| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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= | |
| 1 | g.197427692_197427693insACAC | CA2747247634 | CRB1 | c.2367_2368insACAC (p.Asp790ThrfsTer16) c.1248_1249insACAC (p.Asp417ThrfsTer16) c.510_511insACAC (p.Asp171ThrfsTer16) c.2031_2032insACAC (p.Asp678ThrfsTer16) n.268_269insACAC c.2160_2161insACAC (p.Asp721ThrfsTer16) c.2128+5736_2128+5737insACAC (n.2128+5736_2128+5737insACAC) n.2368_2369insACAC n.2576_2577insACAC c.1785_1786insACAC (p.Asp596ThrfsTer16) c.810_811insACAC (p.Asp271ThrfsTer16) c.1524_1525insACAC (p.Asp509ThrfsTer16) n.2320_2321insACAC n.2528_2529insACAC | |
| 1 | g.197427693G>A | CA344037061 | CRB1 | c.2368G>A (p.Asp790Asn) c.1249G>A (p.Asp417Asn) c.511G>A (p.Asp171Asn) c.2032G>A (p.Asp678Asn) n.269G>A c.2161G>A (p.Asp721Asn) c.2128+5737G>A (n.2128+5737G>A) n.2369G>A n.2577G>A c.1786G>A (p.Asp596Asn) c.811G>A (p.Asp271Asn) c.1525G>A (p.Asp509Asn) n.2321G>A n.2529G>A | dbSNP gnomAD v2 |
| 1 | g.197427693G>C | CA344037062 | CRB1 | c.2368G>C (p.Asp790His) c.1249G>C (p.Asp417His) c.511G>C (p.Asp171His) c.2032G>C (p.Asp678His) n.269G>C c.2161G>C (p.Asp721His) c.2128+5737G>C (n.2128+5737G>C) n.2369G>C n.2577G>C c.1786G>C (p.Asp596His) c.811G>C (p.Asp271His) c.1525G>C (p.Asp509His) n.2321G>C n.2529G>C | |
| 1 | g.197427693G= | CA1218066180 | CRB1 | c.2368G= (p.Asp790=) c.1249G= (p.Asp417=) c.511G= (p.Asp171=) c.2032G= (p.Asp678=) n.269G= c.2161G= (p.Asp721=) c.2128+5737G= (n.2128+5737G=) n.2369G= n.2577G= c.1786G= (p.Asp596=) c.811G= (p.Asp271=) c.1525G= (p.Asp509=) n.2321G= n.2529G= | |
| 1 | g.197427693G>T | CA344037063 | CRB1 | c.2368G>T (p.Asp790Tyr) c.1249G>T (p.Asp417Tyr) c.511G>T (p.Asp171Tyr) c.2032G>T (p.Asp678Tyr) n.269G>T c.2161G>T (p.Asp721Tyr) c.2128+5737G>T (n.2128+5737G>T) n.2369G>T n.2577G>T c.1786G>T (p.Asp596Tyr) c.811G>T (p.Asp271Tyr) c.1525G>T (p.Asp509Tyr) n.2321G>T n.2529G>T | |
| 1 | g.197427694A= | CA1218066182 | CRB1 | c.2369A= (p.Asp790=) c.1250A= (p.Asp417=) c.512A= (p.Asp171=) c.2033A= (p.Asp678=) n.270A= c.2162A= (p.Asp721=) c.2128+5738A= (n.2128+5738A=) n.2370A= n.2578A= c.1787A= (p.Asp596=) c.812A= (p.Asp271=) c.1526A= (p.Asp509=) n.2322A= n.2530A= | |
| 1 | g.197427694A>C | CA344037064 | CRB1 | c.2369A>C (p.Asp790Ala) c.1250A>C (p.Asp417Ala) c.512A>C (p.Asp171Ala) c.2033A>C (p.Asp678Ala) n.270A>C c.2162A>C (p.Asp721Ala) c.2128+5738A>C (n.2128+5738A>C) n.2370A>C n.2578A>C c.1787A>C (p.Asp596Ala) c.812A>C (p.Asp271Ala) c.1526A>C (p.Asp509Ala) n.2322A>C n.2530A>C | |
| 1 | g.197427694A>G | CA344037065 | CRB1 | c.2369A>G (p.Asp790Gly) c.1250A>G (p.Asp417Gly) c.512A>G (p.Asp171Gly) c.2033A>G (p.Asp678Gly) n.270A>G c.2162A>G (p.Asp721Gly) c.2128+5738A>G (n.2128+5738A>G) n.2370A>G n.2578A>G c.1787A>G (p.Asp596Gly) c.812A>G (p.Asp271Gly) c.1526A>G (p.Asp509Gly) n.2322A>G n.2530A>G | |
| 1 | g.197427694A>T | CA344037066 | CRB1 | c.2369A>T (p.Asp790Val) c.1250A>T (p.Asp417Val) c.512A>T (p.Asp171Val) c.2033A>T (p.Asp678Val) n.270A>T c.2162A>T (p.Asp721Val) c.2128+5738A>T (n.2128+5738A>T) n.2370A>T n.2578A>T c.1787A>T (p.Asp596Val) c.812A>T (p.Asp271Val) c.1526A>T (p.Asp509Val) n.2322A>T n.2530A>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197427695T>A | CA344037067 | CRB1 | c.2370T>A (p.Asp790Glu) c.1251T>A (p.Asp417Glu) c.513T>A (p.Asp171Glu) c.2034T>A (p.Asp678Glu) n.271T>A c.2163T>A (p.Asp721Glu) c.2128+5739T>A (n.2128+5739T>A) n.2371T>A n.2579T>A c.1788T>A (p.Asp596Glu) c.813T>A (p.Asp271Glu) c.1527T>A (p.Asp509Glu) n.2323T>A n.2531T>A | gnomAD v4 |
| 1 | g.197427695T>C | CA422809273 | CRB1 | c.2370T>C (p.Asp790=) c.1251T>C (p.Asp417=) c.513T>C (p.Asp171=) c.2034T>C (p.Asp678=) n.271T>C c.2163T>C (p.Asp721=) c.2128+5739T>C (n.2128+5739T>C) n.2371T>C n.2579T>C c.1788T>C (p.Asp596=) c.813T>C (p.Asp271=) c.1527T>C (p.Asp509=) n.2323T>C n.2531T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197427695T>G | CA344037068 | CRB1 | c.2370T>G (p.Asp790Glu) c.1251T>G (p.Asp417Glu) c.513T>G (p.Asp171Glu) c.2034T>G (p.Asp678Glu) n.271T>G c.2163T>G (p.Asp721Glu) c.2128+5739T>G (n.2128+5739T>G) n.2371T>G n.2579T>G c.1788T>G (p.Asp596Glu) c.813T>G (p.Asp271Glu) c.1527T>G (p.Asp509Glu) n.2323T>G n.2531T>G | |
| 1 | g.197427695T= | CA1218066185 | CRB1 | c.2370T= (p.Asp790=) c.1251T= (p.Asp417=) c.513T= (p.Asp171=) c.2034T= (p.Asp678=) n.271T= c.2163T= (p.Asp721=) c.2128+5739T= (n.2128+5739T=) n.2371T= n.2579T= c.1788T= (p.Asp596=) c.813T= (p.Asp271=) c.1527T= (p.Asp509=) n.2323T= n.2531T= | |
| 1 | g.197427696G>A | CA344037069 | CRB1 | c.2371G>A (p.Gly791Arg) c.1252G>A (p.Gly418Arg) c.514G>A (p.Gly172Arg) c.2035G>A (p.Gly679Arg) n.272G>A c.2164G>A (p.Gly722Arg) c.2128+5740G>A (n.2128+5740G>A) n.2372G>A n.2580G>A c.1789G>A (p.Gly597Arg) c.814G>A (p.Gly272Arg) c.1528G>A (p.Gly510Arg) n.2324G>A n.2532G>A | gnomAD v4 COSMIC COSMIC |
| 1 | g.197427696G>C | CA344037070 | CRB1 | c.2371G>C (p.Gly791Arg) c.1252G>C (p.Gly418Arg) c.514G>C (p.Gly172Arg) c.2035G>C (p.Gly679Arg) n.272G>C c.2164G>C (p.Gly722Arg) c.2128+5740G>C (n.2128+5740G>C) n.2372G>C n.2580G>C c.1789G>C (p.Gly597Arg) c.814G>C (p.Gly272Arg) c.1528G>C (p.Gly510Arg) n.2324G>C n.2532G>C | ClinVar |
| 1 | g.197427696G>T | CA344037071 | CRB1 | c.2371G>T (p.Gly791Ter) c.1252G>T (p.Gly418Ter) c.514G>T (p.Gly172Ter) c.2035G>T (p.Gly679Ter) n.272G>T c.2164G>T (p.Gly722Ter) c.2128+5740G>T (n.2128+5740G>T) n.2372G>T n.2580G>T c.1789G>T (p.Gly597Ter) c.814G>T (p.Gly272Ter) c.1528G>T (p.Gly510Ter) n.2324G>T n.2532G>T | |
| 1 | g.197427697G>A | CA344037074 | CRB1 | c.2372G>A (p.Gly791Glu) c.1253G>A (p.Gly418Glu) c.515G>A (p.Gly172Glu) c.2036G>A (p.Gly679Glu) n.273G>A c.2165G>A (p.Gly722Glu) c.2128+5741G>A (n.2128+5741G>A) n.2373G>A n.2581G>A c.1790G>A (p.Gly597Glu) c.815G>A (p.Gly272Glu) c.1529G>A (p.Gly510Glu) n.2325G>A n.2533G>A | gnomAD v4 |
| 1 | g.197427697G>C | CA344037072 | CRB1 | c.2372G>C (p.Gly791Ala) c.1253G>C (p.Gly418Ala) c.515G>C (p.Gly172Ala) c.2036G>C (p.Gly679Ala) n.273G>C c.2165G>C (p.Gly722Ala) c.2128+5741G>C (n.2128+5741G>C) n.2373G>C n.2581G>C c.1790G>C (p.Gly597Ala) c.815G>C (p.Gly272Ala) c.1529G>C (p.Gly510Ala) n.2325G>C n.2533G>C | |
| 1 | g.197427697G>T | CA344037073 | CRB1 | c.2372G>T (p.Gly791Val) c.1253G>T (p.Gly418Val) c.515G>T (p.Gly172Val) c.2036G>T (p.Gly679Val) n.273G>T c.2165G>T (p.Gly722Val) c.2128+5741G>T (n.2128+5741G>T) n.2373G>T n.2581G>T c.1790G>T (p.Gly597Val) c.815G>T (p.Gly272Val) c.1529G>T (p.Gly510Val) n.2325G>T n.2533G>T | |
| 1 | g.197427698A= | CA1218066187 | CRB1 | c.2373A= (p.Gly791=) c.1254A= (p.Gly418=) c.516A= (p.Gly172=) c.2037A= (p.Gly679=) n.274A= c.2166A= (p.Gly722=) c.2128+5742A= (n.2128+5742A=) n.2374A= n.2582A= c.1791A= (p.Gly597=) c.816A= (p.Gly272=) c.1530A= (p.Gly510=) n.2326A= n.2534A= | |
| 1 | g.197427698A>C | CA422809285 | CRB1 | c.2373A>C (p.Gly791=) c.1254A>C (p.Gly418=) c.516A>C (p.Gly172=) c.2037A>C (p.Gly679=) n.274A>C c.2166A>C (p.Gly722=) c.2128+5742A>C (n.2128+5742A>C) n.2374A>C n.2582A>C c.1791A>C (p.Gly597=) c.816A>C (p.Gly272=) c.1530A>C (p.Gly510=) n.2326A>C n.2534A>C | |
| 1 | g.197427698A>G | CA422809287 | CRB1 | c.2373A>G (p.Gly791=) c.1254A>G (p.Gly418=) c.516A>G (p.Gly172=) c.2037A>G (p.Gly679=) n.274A>G c.2166A>G (p.Gly722=) c.2128+5742A>G (n.2128+5742A>G) n.2374A>G n.2582A>G c.1791A>G (p.Gly597=) c.816A>G (p.Gly272=) c.1530A>G (p.Gly510=) n.2326A>G n.2534A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427698A>T | CA422809288 | CRB1 | c.2373A>T (p.Gly791=) c.1254A>T (p.Gly418=) c.516A>T (p.Gly172=) c.2037A>T (p.Gly679=) n.274A>T c.2166A>T (p.Gly722=) c.2128+5742A>T (n.2128+5742A>T) n.2374A>T n.2582A>T c.1791A>T (p.Gly597=) c.816A>T (p.Gly272=) c.1530A>T (p.Gly510=) n.2326A>T n.2534A>T | COSMIC |
| 1 | g.197427699A>C | CA344037075 | CRB1 | c.2374A>C (p.Asn792His) c.1255A>C (p.Asn419His) c.517A>C (p.Asn173His) c.2038A>C (p.Asn680His) n.275A>C c.2167A>C (p.Asn723His) c.2128+5743A>C (n.2128+5743A>C) n.2375A>C n.2583A>C c.1792A>C (p.Asn598His) c.817A>C (p.Asn273His) c.1531A>C (p.Asn511His) n.2327A>C n.2535A>C | |
| 1 | g.197427699A>G | CA344037076 | CRB1 | c.2374A>G (p.Asn792Asp) c.1255A>G (p.Asn419Asp) c.517A>G (p.Asn173Asp) c.2038A>G (p.Asn680Asp) n.275A>G c.2167A>G (p.Asn723Asp) c.2128+5743A>G (n.2128+5743A>G) n.2375A>G n.2583A>G c.1792A>G (p.Asn598Asp) c.817A>G (p.Asn273Asp) c.1531A>G (p.Asn511Asp) n.2327A>G n.2535A>G | |
| 1 | g.197427699A>T | CA344037077 | CRB1 | c.2374A>T (p.Asn792Tyr) c.1255A>T (p.Asn419Tyr) c.517A>T (p.Asn173Tyr) c.2038A>T (p.Asn680Tyr) n.275A>T c.2167A>T (p.Asn723Tyr) c.2128+5743A>T (n.2128+5743A>T) n.2375A>T n.2583A>T c.1792A>T (p.Asn598Tyr) c.817A>T (p.Asn273Tyr) c.1531A>T (p.Asn511Tyr) n.2327A>T n.2535A>T | |
| 1 | g.197427700A= | CA1148229772 | CRB1 | c.2375A= (p.Asn792=) c.1256A= (p.Asn419=) c.518A= (p.Asn173=) c.2039A= (p.Asn680=) n.276A= c.2168A= (p.Asn723=) c.2128+5744A= (n.2128+5744A=) n.2376A= n.2584A= c.1793A= (p.Asn598=) c.818A= (p.Asn273=) c.1532A= (p.Asn511=) n.2328A= n.2536A= | |
| 1 | g.197427700A>C | CA344037078 | CRB1 | c.2375A>C (p.Asn792Thr) c.1256A>C (p.Asn419Thr) c.518A>C (p.Asn173Thr) c.2039A>C (p.Asn680Thr) n.276A>C c.2168A>C (p.Asn723Thr) c.2128+5744A>C (n.2128+5744A>C) n.2376A>C n.2584A>C c.1793A>C (p.Asn598Thr) c.818A>C (p.Asn273Thr) c.1532A>C (p.Asn511Thr) n.2328A>C n.2536A>C | |
| 1 | g.197427700A>G | CA1312111 | CRB1 | c.2375A>G (p.Asn792Ser) c.1256A>G (p.Asn419Ser) c.518A>G (p.Asn173Ser) c.2039A>G (p.Asn680Ser) n.276A>G c.2168A>G (p.Asn723Ser) c.2128+5744A>G (n.2128+5744A>G) n.2376A>G n.2584A>G c.1793A>G (p.Asn598Ser) c.818A>G (p.Asn273Ser) c.1532A>G (p.Asn511Ser) n.2328A>G n.2536A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427700A>T | CA344037079 | CRB1 | c.2375A>T (p.Asn792Ile) c.1256A>T (p.Asn419Ile) c.518A>T (p.Asn173Ile) c.2039A>T (p.Asn680Ile) n.276A>T c.2168A>T (p.Asn723Ile) c.2128+5744A>T (n.2128+5744A>T) n.2376A>T n.2584A>T c.1793A>T (p.Asn598Ile) c.818A>T (p.Asn273Ile) c.1532A>T (p.Asn511Ile) n.2328A>T n.2536A>T | |
| 1 | g.197427701T>A | CA344037080 | CRB1 | c.2376T>A (p.Asn792Lys) c.1257T>A (p.Asn419Lys) c.519T>A (p.Asn173Lys) c.2040T>A (p.Asn680Lys) n.277T>A c.2169T>A (p.Asn723Lys) c.2128+5745T>A (n.2128+5745T>A) n.2377T>A n.2585T>A c.1794T>A (p.Asn598Lys) c.819T>A (p.Asn273Lys) c.1533T>A (p.Asn511Lys) n.2329T>A n.2537T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427701T>C | CA422809297 | CRB1 | c.2376T>C (p.Asn792=) c.1257T>C (p.Asn419=) c.519T>C (p.Asn173=) c.2040T>C (p.Asn680=) n.277T>C c.2169T>C (p.Asn723=) c.2128+5745T>C (n.2128+5745T>C) n.2377T>C n.2585T>C c.1794T>C (p.Asn598=) c.819T>C (p.Asn273=) c.1533T>C (p.Asn511=) n.2329T>C n.2537T>C | |
| 1 | g.197427701T>G | CA344037081 | CRB1 | c.2376T>G (p.Asn792Lys) c.1257T>G (p.Asn419Lys) c.519T>G (p.Asn173Lys) c.2040T>G (p.Asn680Lys) n.277T>G c.2169T>G (p.Asn723Lys) c.2128+5745T>G (n.2128+5745T>G) n.2377T>G n.2585T>G c.1794T>G (p.Asn598Lys) c.819T>G (p.Asn273Lys) c.1533T>G (p.Asn511Lys) n.2329T>G n.2537T>G | |
| 1 | g.197427701T= | CA1218066190 | CRB1 | c.2376T= (p.Asn792=) c.1257T= (p.Asn419=) c.519T= (p.Asn173=) c.2040T= (p.Asn680=) n.277T= c.2169T= (p.Asn723=) c.2128+5745T= (n.2128+5745T=) n.2377T= n.2585T= c.1794T= (p.Asn598=) c.819T= (p.Asn273=) c.1533T= (p.Asn511=) n.2329T= n.2537T= | |
| 1 | g.197427702G>A | CA1312112 | CRB1 | c.2377G>A (p.Val793Ile) c.1258G>A (p.Val420Ile) c.520G>A (p.Val174Ile) c.2041G>A (p.Val681Ile) n.278G>A c.2170G>A (p.Val724Ile) c.2128+5746G>A (n.2128+5746G>A) n.2378G>A n.2586G>A c.1795G>A (p.Val599Ile) c.820G>A (p.Val274Ile) c.1534G>A (p.Val512Ile) n.2330G>A n.2538G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427702G>C | CA344037082 | CRB1 | c.2377G>C (p.Val793Leu) c.1258G>C (p.Val420Leu) c.520G>C (p.Val174Leu) c.2041G>C (p.Val681Leu) n.278G>C c.2170G>C (p.Val724Leu) c.2128+5746G>C (n.2128+5746G>C) n.2378G>C n.2586G>C c.1795G>C (p.Val599Leu) c.820G>C (p.Val274Leu) c.1534G>C (p.Val512Leu) n.2330G>C n.2538G>C | dbSNP |
| 1 | g.197427702G= | CA1144351085 | CRB1 | c.2377G= (p.Val793=) c.1258G= (p.Val420=) c.520G= (p.Val174=) c.2041G= (p.Val681=) n.278G= c.2170G= (p.Val724=) c.2128+5746G= (n.2128+5746G=) n.2378G= n.2586G= c.1795G= (p.Val599=) c.820G= (p.Val274=) c.1534G= (p.Val512=) n.2330G= n.2538G= | |
| 1 | g.197427702G>T | CA344037083 | CRB1 | c.2377G>T (p.Val793Phe) c.1258G>T (p.Val420Phe) c.520G>T (p.Val174Phe) c.2041G>T (p.Val681Phe) n.278G>T c.2170G>T (p.Val724Phe) c.2128+5746G>T (n.2128+5746G>T) n.2378G>T n.2586G>T c.1795G>T (p.Val599Phe) c.820G>T (p.Val274Phe) c.1534G>T (p.Val512Phe) n.2330G>T n.2538G>T | |
| 1 | g.197427703T>A | CA1312113 | CRB1 | c.2378T>A (p.Val793Asp) c.1259T>A (p.Val420Asp) c.521T>A (p.Val174Asp) c.2042T>A (p.Val681Asp) n.279T>A c.2171T>A (p.Val724Asp) c.2128+5747T>A (n.2128+5747T>A) n.2379T>A n.2587T>A c.1796T>A (p.Val599Asp) c.821T>A (p.Val274Asp) c.1535T>A (p.Val512Asp) n.2331T>A n.2539T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197427703T>C | CA344037085 | CRB1 | c.2378T>C (p.Val793Ala) c.1259T>C (p.Val420Ala) c.521T>C (p.Val174Ala) c.2042T>C (p.Val681Ala) n.279T>C c.2171T>C (p.Val724Ala) c.2128+5747T>C (n.2128+5747T>C) n.2379T>C n.2587T>C c.1796T>C (p.Val599Ala) c.821T>C (p.Val274Ala) c.1535T>C (p.Val512Ala) n.2331T>C n.2539T>C | |
| 1 | g.197427703T>G | CA344037084 | CRB1 | c.2378T>G (p.Val793Gly) c.1259T>G (p.Val420Gly) c.521T>G (p.Val174Gly) c.2042T>G (p.Val681Gly) n.279T>G c.2171T>G (p.Val724Gly) c.2128+5747T>G (n.2128+5747T>G) n.2379T>G n.2587T>G c.1796T>G (p.Val599Gly) c.821T>G (p.Val274Gly) c.1535T>G (p.Val512Gly) n.2331T>G n.2539T>G | |
| 1 | g.197427703T= | CA1218066193 | CRB1 | c.2378T= (p.Val793=) c.1259T= (p.Val420=) c.521T= (p.Val174=) c.2042T= (p.Val681=) n.279T= c.2171T= (p.Val724=) c.2128+5747T= (n.2128+5747T=) n.2379T= n.2587T= c.1796T= (p.Val599=) c.821T= (p.Val274=) c.1535T= (p.Val512=) n.2331T= n.2539T= | |
| 1 | g.197427704C>A | CA422809309 | CRB1 | c.2379C>A (p.Val793=) c.1260C>A (p.Val420=) c.522C>A (p.Val174=) c.2043C>A (p.Val681=) n.280C>A c.2172C>A (p.Val724=) c.2128+5748C>A (n.2128+5748C>A) n.2380C>A n.2588C>A c.1797C>A (p.Val599=) c.822C>A (p.Val274=) c.1536C>A (p.Val512=) n.2332C>A n.2540C>A | |
| 1 | g.197427704C>G | CA422809311 | CRB1 | c.2379C>G (p.Val793=) c.1260C>G (p.Val420=) c.522C>G (p.Val174=) c.2043C>G (p.Val681=) n.280C>G c.2172C>G (p.Val724=) c.2128+5748C>G (n.2128+5748C>G) n.2380C>G n.2588C>G c.1797C>G (p.Val599=) c.822C>G (p.Val274=) c.1536C>G (p.Val512=) n.2332C>G n.2540C>G | |
| 1 | g.197427704C>T | CA422809313 | CRB1 | c.2379C>T (p.Val793=) c.1260C>T (p.Val420=) c.522C>T (p.Val174=) c.2043C>T (p.Val681=) n.280C>T c.2172C>T (p.Val724=) c.2128+5748C>T (n.2128+5748C>T) n.2380C>T n.2588C>T c.1797C>T (p.Val599=) c.822C>T (p.Val274=) c.1536C>T (p.Val512=) n.2332C>T n.2540C>T | ClinVar dbSNP |
| 1 | g.197427705C>A | CA344037086 | CRB1 | c.2380C>A (p.His794Asn) c.1261C>A (p.His421Asn) c.523C>A (p.His175Asn) c.2044C>A (p.His682Asn) n.281C>A c.2173C>A (p.His725Asn) c.2128+5749C>A (n.2128+5749C>A) n.2381C>A n.2589C>A c.1798C>A (p.His600Asn) c.823C>A (p.His275Asn) c.1537C>A (p.His513Asn) n.2333C>A n.2541C>A | ClinVar dbSNP |
| 1 | g.197427705C= | CA1218066195 | CRB1 | c.2380C= (p.His794=) c.1261C= (p.His421=) c.523C= (p.His175=) c.2044C= (p.His682=) n.281C= c.2173C= (p.His725=) c.2128+5749C= (n.2128+5749C=) n.2381C= n.2589C= c.1798C= (p.His600=) c.823C= (p.His275=) c.1537C= (p.His513=) n.2333C= n.2541C= | |
| 1 | g.197427705C>G | CA344037088 | CRB1 | c.2380C>G (p.His794Asp) c.1261C>G (p.His421Asp) c.523C>G (p.His175Asp) c.2044C>G (p.His682Asp) n.281C>G c.2173C>G (p.His725Asp) c.2128+5749C>G (n.2128+5749C>G) n.2381C>G n.2589C>G c.1798C>G (p.His600Asp) c.823C>G (p.His275Asp) c.1537C>G (p.His513Asp) n.2333C>G n.2541C>G | |
| 1 | g.197427705C>T | CA344037087 | CRB1 | c.2380C>T (p.His794Tyr) c.1261C>T (p.His421Tyr) c.523C>T (p.His175Tyr) c.2044C>T (p.His682Tyr) n.281C>T c.2173C>T (p.His725Tyr) c.2128+5749C>T (n.2128+5749C>T) n.2381C>T n.2589C>T c.1798C>T (p.His600Tyr) c.823C>T (p.His275Tyr) c.1537C>T (p.His513Tyr) n.2333C>T n.2541C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427706A>C | CA344037089 | CRB1 | c.2381A>C (p.His794Pro) c.1262A>C (p.His421Pro) c.524A>C (p.His175Pro) c.2045A>C (p.His682Pro) n.282A>C c.2174A>C (p.His725Pro) c.2128+5750A>C (n.2128+5750A>C) n.2382A>C n.2590A>C c.1799A>C (p.His600Pro) c.824A>C (p.His275Pro) c.1538A>C (p.His513Pro) n.2334A>C n.2542A>C | |
| 1 | g.197427706A>G | CA344037092 | CRB1 | c.2381A>G (p.His794Arg) c.1262A>G (p.His421Arg) c.524A>G (p.His175Arg) c.2045A>G (p.His682Arg) n.282A>G c.2174A>G (p.His725Arg) c.2128+5750A>G (n.2128+5750A>G) n.2382A>G n.2590A>G c.1799A>G (p.His600Arg) c.824A>G (p.His275Arg) c.1538A>G (p.His513Arg) n.2334A>G n.2542A>G | |
| 1 | g.197427706A>T | CA344037091 | CRB1 | c.2381A>T (p.His794Leu) c.1262A>T (p.His421Leu) c.524A>T (p.His175Leu) c.2045A>T (p.His682Leu) n.282A>T c.2174A>T (p.His725Leu) c.2128+5750A>T (n.2128+5750A>T) n.2382A>T n.2590A>T c.1799A>T (p.His600Leu) c.824A>T (p.His275Leu) c.1538A>T (p.His513Leu) n.2334A>T n.2542A>T | |
| 1 | g.197427707C>A | CA344037093 | CRB1 | c.2382C>A (p.His794Gln) c.1263C>A (p.His421Gln) c.525C>A (p.His175Gln) c.2046C>A (p.His682Gln) n.283C>A c.2175C>A (p.His725Gln) c.2128+5751C>A (n.2128+5751C>A) n.2383C>A n.2591C>A c.1800C>A (p.His600Gln) c.825C>A (p.His275Gln) c.1539C>A (p.His513Gln) n.2335C>A n.2543C>A | |
| 1 | g.197427707C= | CA1218066201 | CRB1 | c.2382C= (p.His794=) c.1263C= (p.His421=) c.525C= (p.His175=) c.2046C= (p.His682=) n.283C= c.2175C= (p.His725=) c.2128+5751C= (n.2128+5751C=) n.2383C= n.2591C= c.1800C= (p.His600=) c.825C= (p.His275=) c.1539C= (p.His513=) n.2335C= n.2543C= | |
| 1 | g.197427707C>G | CA344037094 | CRB1 | c.2382C>G (p.His794Gln) c.1263C>G (p.His421Gln) c.525C>G (p.His175Gln) c.2046C>G (p.His682Gln) n.283C>G c.2175C>G (p.His725Gln) c.2128+5751C>G (n.2128+5751C>G) n.2383C>G n.2591C>G c.1800C>G (p.His600Gln) c.825C>G (p.His275Gln) c.1539C>G (p.His513Gln) n.2335C>G n.2543C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427707C>T | CA422809320 | CRB1 | c.2382C>T (p.His794=) c.1263C>T (p.His421=) c.525C>T (p.His175=) c.2046C>T (p.His682=) n.283C>T c.2175C>T (p.His725=) c.2128+5751C>T (n.2128+5751C>T) n.2383C>T n.2591C>T c.1800C>T (p.His600=) c.825C>T (p.His275=) c.1539C>T (p.His513=) n.2335C>T n.2543C>T | ClinVar |
| 1 | g.197427708T>A | CA344037095 | CRB1 | c.2383T>A (p.Leu795Met) c.1264T>A (p.Leu422Met) c.526T>A (p.Leu176Met) c.2047T>A (p.Leu683Met) n.284T>A c.2176T>A (p.Leu726Met) c.2128+5752T>A (n.2128+5752T>A) n.2384T>A n.2592T>A c.1801T>A (p.Leu601Met) c.826T>A (p.Leu276Met) c.1540T>A (p.Leu514Met) n.2336T>A n.2544T>A | |
| 1 | g.197427708T>C | CA422809325 | CRB1 | c.2383T>C (p.Leu795=) c.1264T>C (p.Leu422=) c.526T>C (p.Leu176=) c.2047T>C (p.Leu683=) n.284T>C c.2176T>C (p.Leu726=) c.2128+5752T>C (n.2128+5752T>C) n.2384T>C n.2592T>C c.1801T>C (p.Leu601=) c.826T>C (p.Leu276=) c.1540T>C (p.Leu514=) n.2336T>C n.2544T>C | |
| 1 | g.197427708T>G | CA344037096 | CRB1 | c.2383T>G (p.Leu795Val) c.1264T>G (p.Leu422Val) c.526T>G (p.Leu176Val) c.2047T>G (p.Leu683Val) n.284T>G c.2176T>G (p.Leu726Val) c.2128+5752T>G (n.2128+5752T>G) n.2384T>G n.2592T>G c.1801T>G (p.Leu601Val) c.826T>G (p.Leu276Val) c.1540T>G (p.Leu514Val) n.2336T>G n.2544T>G | |
| 1 | g.197427709T>A | CA344037097 | CRB1 | c.2384T>A (p.Leu795Ter) c.1265T>A (p.Leu422Ter) c.527T>A (p.Leu176Ter) c.2048T>A (p.Leu683Ter) n.285T>A c.2177T>A (p.Leu726Ter) c.2128+5753T>A (n.2128+5753T>A) n.2385T>A n.2593T>A c.1802T>A (p.Leu601Ter) c.827T>A (p.Leu276Ter) c.1541T>A (p.Leu514Ter) n.2337T>A n.2545T>A | |
| 1 | g.197427709T>C | CA344037098 | CRB1 | c.2384T>C (p.Leu795Ser) c.1265T>C (p.Leu422Ser) c.527T>C (p.Leu176Ser) c.2048T>C (p.Leu683Ser) n.285T>C c.2177T>C (p.Leu726Ser) c.2128+5753T>C (n.2128+5753T>C) n.2385T>C n.2593T>C c.1802T>C (p.Leu601Ser) c.827T>C (p.Leu276Ser) c.1541T>C (p.Leu514Ser) n.2337T>C n.2545T>C | |
| 1 | g.197427709T>G | CA344037099 | CRB1 | c.2384T>G (p.Leu795Trp) c.1265T>G (p.Leu422Trp) c.527T>G (p.Leu176Trp) c.2048T>G (p.Leu683Trp) n.285T>G c.2177T>G (p.Leu726Trp) c.2128+5753T>G (n.2128+5753T>G) n.2385T>G n.2593T>G c.1802T>G (p.Leu601Trp) c.827T>G (p.Leu276Trp) c.1541T>G (p.Leu514Trp) n.2337T>G n.2545T>G | |
| 1 | g.197427710G>A | CA422809329 | CRB1 | c.2385G>A (p.Leu795=) c.1266G>A (p.Leu422=) c.528G>A (p.Leu176=) c.2049G>A (p.Leu683=) n.286G>A c.2178G>A (p.Leu726=) c.2128+5754G>A (n.2128+5754G>A) n.2386G>A n.2594G>A c.1803G>A (p.Leu601=) c.828G>A (p.Leu276=) c.1542G>A (p.Leu514=) n.2338G>A n.2546G>A | |
| 1 | g.197427710G>C | CA344037100 | CRB1 | c.2385G>C (p.Leu795Phe) c.1266G>C (p.Leu422Phe) c.528G>C (p.Leu176Phe) c.2049G>C (p.Leu683Phe) n.286G>C c.2178G>C (p.Leu726Phe) c.2128+5754G>C (n.2128+5754G>C) n.2386G>C n.2594G>C c.1803G>C (p.Leu601Phe) c.828G>C (p.Leu276Phe) c.1542G>C (p.Leu514Phe) n.2338G>C n.2546G>C | |
| 1 | g.197427710G>T | CA344037101 | CRB1 | c.2385G>T (p.Leu795Phe) c.1266G>T (p.Leu422Phe) c.528G>T (p.Leu176Phe) c.2049G>T (p.Leu683Phe) n.286G>T c.2178G>T (p.Leu726Phe) c.2128+5754G>T (n.2128+5754G>T) n.2386G>T n.2594G>T c.1803G>T (p.Leu601Phe) c.828G>T (p.Leu276Phe) c.1542G>T (p.Leu514Phe) n.2338G>T n.2546G>T | |
| 1 | g.197427711A>C | CA344037102 | CRB1 | c.2386A>C (p.Ile796Leu) c.1267A>C (p.Ile423Leu) c.529A>C (p.Ile177Leu) c.2050A>C (p.Ile684Leu) n.287A>C c.2179A>C (p.Ile727Leu) c.2128+5755A>C (n.2128+5755A>C) n.2387A>C n.2595A>C c.1804A>C (p.Ile602Leu) c.829A>C (p.Ile277Leu) c.1543A>C (p.Ile515Leu) n.2339A>C n.2547A>C | |
| 1 | g.197427711A>G | CA344037103 | CRB1 | c.2386A>G (p.Ile796Val) c.1267A>G (p.Ile423Val) c.529A>G (p.Ile177Val) c.2050A>G (p.Ile684Val) n.287A>G c.2179A>G (p.Ile727Val) c.2128+5755A>G (n.2128+5755A>G) n.2387A>G n.2595A>G c.1804A>G (p.Ile602Val) c.829A>G (p.Ile277Val) c.1543A>G (p.Ile515Val) n.2339A>G n.2547A>G | |
| 1 | g.197427711A>T | CA344037104 | CRB1 | c.2386A>T (p.Ile796Leu) c.1267A>T (p.Ile423Leu) c.529A>T (p.Ile177Leu) c.2050A>T (p.Ile684Leu) n.287A>T c.2179A>T (p.Ile727Leu) c.2128+5755A>T (n.2128+5755A>T) n.2387A>T n.2595A>T c.1804A>T (p.Ile602Leu) c.829A>T (p.Ile277Leu) c.1543A>T (p.Ile515Leu) n.2339A>T n.2547A>T | |
| 1 | g.197427712T>A | CA344037107 | CRB1 | c.2387T>A (p.Ile796Lys) c.1268T>A (p.Ile423Lys) c.530T>A (p.Ile177Lys) c.2051T>A (p.Ile684Lys) n.288T>A c.2180T>A (p.Ile727Lys) c.2128+5756T>A (n.2128+5756T>A) n.2388T>A n.2596T>A c.1805T>A (p.Ile602Lys) c.830T>A (p.Ile277Lys) c.1544T>A (p.Ile515Lys) n.2340T>A n.2548T>A | |
| 1 | g.197427712T>C | CA344037105 | CRB1 | c.2387T>C (p.Ile796Thr) c.1268T>C (p.Ile423Thr) c.530T>C (p.Ile177Thr) c.2051T>C (p.Ile684Thr) n.288T>C c.2180T>C (p.Ile727Thr) c.2128+5756T>C (n.2128+5756T>C) n.2388T>C n.2596T>C c.1805T>C (p.Ile602Thr) c.830T>C (p.Ile277Thr) c.1544T>C (p.Ile515Thr) n.2340T>C n.2548T>C | ClinVar |
| 1 | g.197427712T>G | CA344037106 | CRB1 | c.2387T>G (p.Ile796Arg) c.1268T>G (p.Ile423Arg) c.530T>G (p.Ile177Arg) c.2051T>G (p.Ile684Arg) n.288T>G c.2180T>G (p.Ile727Arg) c.2128+5756T>G (n.2128+5756T>G) n.2388T>G n.2596T>G c.1805T>G (p.Ile602Arg) c.830T>G (p.Ile277Arg) c.1544T>G (p.Ile515Arg) n.2340T>G n.2548T>G | |
| 1 | g.197427713A>C | CA422808696 | CRB1 | c.2388A>C (p.Ile796=) c.1269A>C (p.Ile423=) c.531A>C (p.Ile177=) c.2052A>C (p.Ile684=) n.289A>C c.2181A>C (p.Ile727=) c.2128+5757A>C (n.2128+5757A>C) n.2389A>C n.2597A>C c.1806A>C (p.Ile602=) c.831A>C (p.Ile277=) c.1545A>C (p.Ile515=) n.2341A>C n.2549A>C | |
| 1 | g.197427713A>G | CA344037108 | CRB1 | c.2388A>G (p.Ile796Met) c.1269A>G (p.Ile423Met) c.531A>G (p.Ile177Met) c.2052A>G (p.Ile684Met) n.289A>G c.2181A>G (p.Ile727Met) c.2128+5757A>G (n.2128+5757A>G) n.2389A>G n.2597A>G c.1806A>G (p.Ile602Met) c.831A>G (p.Ile277Met) c.1545A>G (p.Ile515Met) n.2341A>G n.2549A>G | |
| 1 | g.197427713A>T | CA422808700 | CRB1 | c.2388A>T (p.Ile796=) c.1269A>T (p.Ile423=) c.531A>T (p.Ile177=) c.2052A>T (p.Ile684=) n.289A>T c.2181A>T (p.Ile727=) c.2128+5757A>T (n.2128+5757A>T) n.2389A>T n.2597A>T c.1806A>T (p.Ile602=) c.831A>T (p.Ile277=) c.1545A>T (p.Ile515=) n.2341A>T n.2549A>T | |
| 1 | g.197427713_197427715del | CA2830534959 | CRB1 | c.2388_2390del (p.Ser797del) c.1269_1271del (p.Ser424del) c.531_533del (p.Ser178del) c.2052_2054del (p.Ser685del) n.289_291del c.2181_2183del (p.Ser728del) c.2128+5757_2128+5759del (n.2128+5757_2128+5759del) n.2389_2391del n.2597_2599del c.1806_1808del (p.Ser603del) c.831_833del (p.Ser278del) c.1545_1547del (p.Ser516del) n.2341_2343del n.2549_2551del | |
| 1 | g.197427714T>A | CA344037109 | CRB1 | c.2389T>A (p.Ser797Thr) c.1270T>A (p.Ser424Thr) c.532T>A (p.Ser178Thr) c.2053T>A (p.Ser685Thr) n.290T>A c.2182T>A (p.Ser728Thr) c.2128+5758T>A (n.2128+5758T>A) n.2390T>A n.2598T>A c.1807T>A (p.Ser603Thr) c.832T>A (p.Ser278Thr) c.1546T>A (p.Ser516Thr) n.2342T>A n.2550T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427714T>C | CA344037110 | CRB1 | c.2389T>C (p.Ser797Pro) c.1270T>C (p.Ser424Pro) c.532T>C (p.Ser178Pro) c.2053T>C (p.Ser685Pro) n.290T>C c.2182T>C (p.Ser728Pro) c.2128+5758T>C (n.2128+5758T>C) n.2390T>C n.2598T>C c.1807T>C (p.Ser603Pro) c.832T>C (p.Ser278Pro) c.1546T>C (p.Ser516Pro) n.2342T>C n.2550T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427714T>G | CA344037111 | CRB1 | c.2389T>G (p.Ser797Ala) c.1270T>G (p.Ser424Ala) c.532T>G (p.Ser178Ala) c.2053T>G (p.Ser685Ala) n.290T>G c.2182T>G (p.Ser728Ala) c.2128+5758T>G (n.2128+5758T>G) n.2390T>G n.2598T>G c.1807T>G (p.Ser603Ala) c.832T>G (p.Ser278Ala) c.1546T>G (p.Ser516Ala) n.2342T>G n.2550T>G | |
| 1 | g.197427714T= | CA1218066204 | CRB1 | c.2389T= (p.Ser797=) c.1270T= (p.Ser424=) c.532T= (p.Ser178=) c.2053T= (p.Ser685=) n.290T= c.2182T= (p.Ser728=) c.2128+5758T= (n.2128+5758T=) n.2390T= n.2598T= c.1807T= (p.Ser603=) c.832T= (p.Ser278=) c.1546T= (p.Ser516=) n.2342T= n.2550T= | |
| 1 | g.197427715C>A | CA344037112 | CRB1 | c.2390C>A (p.Ser797Tyr) c.1271C>A (p.Ser424Tyr) c.533C>A (p.Ser178Tyr) c.2054C>A (p.Ser685Tyr) n.291C>A c.2183C>A (p.Ser728Tyr) c.2128+5759C>A (n.2128+5759C>A) n.2391C>A n.2599C>A c.1808C>A (p.Ser603Tyr) c.833C>A (p.Ser278Tyr) c.1547C>A (p.Ser516Tyr) n.2343C>A n.2551C>A | |
| 1 | g.197427715C>G | CA344037113 | CRB1 | c.2390C>G (p.Ser797Cys) c.1271C>G (p.Ser424Cys) c.533C>G (p.Ser178Cys) c.2054C>G (p.Ser685Cys) n.291C>G c.2183C>G (p.Ser728Cys) c.2128+5759C>G (n.2128+5759C>G) n.2391C>G n.2599C>G c.1808C>G (p.Ser603Cys) c.833C>G (p.Ser278Cys) c.1547C>G (p.Ser516Cys) n.2343C>G n.2551C>G | |
| 1 | g.197427715C>T | CA344037114 | CRB1 | c.2390C>T (p.Ser797Phe) c.1271C>T (p.Ser424Phe) c.533C>T (p.Ser178Phe) c.2054C>T (p.Ser685Phe) n.291C>T c.2183C>T (p.Ser728Phe) c.2128+5759C>T (n.2128+5759C>T) n.2391C>T n.2599C>T c.1808C>T (p.Ser603Phe) c.833C>T (p.Ser278Phe) c.1547C>T (p.Ser516Phe) n.2343C>T n.2551C>T | COSMIC COSMIC |
| 1 | g.197427716T>A | CA422808706 | CRB1 | c.2391T>A (p.Ser797=) c.1272T>A (p.Ser424=) c.534T>A (p.Ser178=) c.2055T>A (p.Ser685=) n.292T>A c.2184T>A (p.Ser728=) c.2128+5760T>A (n.2128+5760T>A) n.2392T>A n.2600T>A c.1809T>A (p.Ser603=) c.834T>A (p.Ser278=) c.1548T>A (p.Ser516=) n.2344T>A n.2552T>A | |
| 1 | g.197427716T>C | CA1312114 | CRB1 | c.2391T>C (p.Ser797=) c.1272T>C (p.Ser424=) c.534T>C (p.Ser178=) c.2055T>C (p.Ser685=) n.292T>C c.2184T>C (p.Ser728=) c.2128+5760T>C (n.2128+5760T>C) n.2392T>C n.2600T>C c.1809T>C (p.Ser603=) c.834T>C (p.Ser278=) c.1548T>C (p.Ser516=) n.2344T>C n.2552T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427716T>G | CA422808707 | CRB1 | c.2391T>G (p.Ser797=) c.1272T>G (p.Ser424=) c.534T>G (p.Ser178=) c.2055T>G (p.Ser685=) n.292T>G c.2184T>G (p.Ser728=) c.2128+5760T>G (n.2128+5760T>G) n.2392T>G n.2600T>G c.1809T>G (p.Ser603=) c.834T>G (p.Ser278=) c.1548T>G (p.Ser516=) n.2344T>G n.2552T>G | |
| 1 | g.197427716T= | CA1149143994 | CRB1 | c.2391T= (p.Ser797=) c.1272T= (p.Ser424=) c.534T= (p.Ser178=) c.2055T= (p.Ser685=) n.292T= c.2184T= (p.Ser728=) c.2128+5760T= (n.2128+5760T=) n.2392T= n.2600T= c.1809T= (p.Ser603=) c.834T= (p.Ser278=) c.1548T= (p.Ser516=) n.2344T= n.2552T= | |
| 1 | g.197427717T>A | CA344037115 | CRB1 | c.2392T>A (p.Leu798Met) c.1273T>A (p.Leu425Met) c.535T>A (p.Leu179Met) c.2056T>A (p.Leu686Met) n.293T>A c.2185T>A (p.Leu729Met) c.2128+5761T>A (n.2128+5761T>A) n.2393T>A n.2601T>A c.1810T>A (p.Leu604Met) c.835T>A (p.Leu279Met) c.1549T>A (p.Leu517Met) n.2345T>A n.2553T>A | |
| 1 | g.197427717T>C | CA422808709 | CRB1 | c.2392T>C (p.Leu798=) c.1273T>C (p.Leu425=) c.535T>C (p.Leu179=) c.2056T>C (p.Leu686=) n.293T>C c.2185T>C (p.Leu729=) c.2128+5761T>C (n.2128+5761T>C) n.2393T>C n.2601T>C c.1810T>C (p.Leu604=) c.835T>C (p.Leu279=) c.1549T>C (p.Leu517=) n.2345T>C n.2553T>C | |
| 1 | g.197427717T>G | CA344037116 | CRB1 | c.2392T>G (p.Leu798Val) c.1273T>G (p.Leu425Val) c.535T>G (p.Leu179Val) c.2056T>G (p.Leu686Val) n.293T>G c.2185T>G (p.Leu729Val) c.2128+5761T>G (n.2128+5761T>G) n.2393T>G n.2601T>G c.1810T>G (p.Leu604Val) c.835T>G (p.Leu279Val) c.1549T>G (p.Leu517Val) n.2345T>G n.2553T>G | |
| 1 | g.197427718T>A | CA344037119 | CRB1 | c.2393T>A (p.Leu798Ter) c.1274T>A (p.Leu425Ter) c.536T>A (p.Leu179Ter) c.2057T>A (p.Leu686Ter) n.294T>A c.2186T>A (p.Leu729Ter) c.2128+5762T>A (n.2128+5762T>A) n.2394T>A n.2602T>A c.1811T>A (p.Leu604Ter) c.836T>A (p.Leu279Ter) c.1550T>A (p.Leu517Ter) n.2346T>A n.2554T>A | ClinVar dbSNP |
| 1 | g.197427718T>C | CA344037118 | CRB1 | c.2393T>C (p.Leu798Ser) c.1274T>C (p.Leu425Ser) c.536T>C (p.Leu179Ser) c.2057T>C (p.Leu686Ser) n.294T>C c.2186T>C (p.Leu729Ser) c.2128+5762T>C (n.2128+5762T>C) n.2394T>C n.2602T>C c.1811T>C (p.Leu604Ser) c.836T>C (p.Leu279Ser) c.1550T>C (p.Leu517Ser) n.2346T>C n.2554T>C | |
| 1 | g.197427718T>G | CA344037117 | CRB1 | c.2393T>G (p.Leu798Trp) c.1274T>G (p.Leu425Trp) c.536T>G (p.Leu179Trp) c.2057T>G (p.Leu686Trp) n.294T>G c.2186T>G (p.Leu729Trp) c.2128+5762T>G (n.2128+5762T>G) n.2394T>G n.2602T>G c.1811T>G (p.Leu604Trp) c.836T>G (p.Leu279Trp) c.1550T>G (p.Leu517Trp) n.2346T>G n.2554T>G | |
| 1 | g.197427719G>A | CA422808711 | CRB1 | c.2394G>A (p.Leu798=) c.1275G>A (p.Leu425=) c.537G>A (p.Leu179=) c.2058G>A (p.Leu686=) n.295G>A c.2187G>A (p.Leu729=) c.2128+5763G>A (n.2128+5763G>A) n.2395G>A n.2603G>A c.1812G>A (p.Leu604=) c.837G>A (p.Leu279=) c.1551G>A (p.Leu517=) n.2347G>A n.2555G>A | |
| 1 | g.197427719G>C | CA344037120 | CRB1 | c.2394G>C (p.Leu798Phe) c.1275G>C (p.Leu425Phe) c.537G>C (p.Leu179Phe) c.2058G>C (p.Leu686Phe) n.295G>C c.2187G>C (p.Leu729Phe) c.2128+5763G>C (n.2128+5763G>C) n.2395G>C n.2603G>C c.1812G>C (p.Leu604Phe) c.837G>C (p.Leu279Phe) c.1551G>C (p.Leu517Phe) n.2347G>C n.2555G>C | |
| 1 | g.197427719G>T | CA344037121 | CRB1 | c.2394G>T (p.Leu798Phe) c.1275G>T (p.Leu425Phe) c.537G>T (p.Leu179Phe) c.2058G>T (p.Leu686Phe) n.295G>T c.2187G>T (p.Leu729Phe) c.2128+5763G>T (n.2128+5763G>T) n.2395G>T n.2603G>T c.1812G>T (p.Leu604Phe) c.837G>T (p.Leu279Phe) c.1551G>T (p.Leu517Phe) n.2347G>T n.2555G>T | gnomAD v4 COSMIC COSMIC |
| 1 | g.197427720A>C | CA344037123 | CRB1 | c.2395A>C (p.Lys799Gln) c.1276A>C (p.Lys426Gln) c.538A>C (p.Lys180Gln) c.2059A>C (p.Lys687Gln) n.296A>C c.2188A>C (p.Lys730Gln) c.2128+5764A>C (n.2128+5764A>C) n.2396A>C n.2604A>C c.1813A>C (p.Lys605Gln) c.838A>C (p.Lys280Gln) c.1552A>C (p.Lys518Gln) n.2348A>C n.2556A>C | |
| 1 | g.197427720A>G | CA344037125 | CRB1 | c.2395A>G (p.Lys799Glu) c.1276A>G (p.Lys426Glu) c.538A>G (p.Lys180Glu) c.2059A>G (p.Lys687Glu) n.296A>G c.2188A>G (p.Lys730Glu) c.2128+5764A>G (n.2128+5764A>G) n.2396A>G n.2604A>G c.1813A>G (p.Lys605Glu) c.838A>G (p.Lys280Glu) c.1552A>G (p.Lys518Glu) n.2348A>G n.2556A>G | |
| 1 | g.197427720A>T | CA344037126 | CRB1 | c.2395A>T (p.Lys799Ter) c.1276A>T (p.Lys426Ter) c.538A>T (p.Lys180Ter) c.2059A>T (p.Lys687Ter) n.296A>T c.2188A>T (p.Lys730Ter) c.2128+5764A>T (n.2128+5764A>T) n.2396A>T n.2604A>T c.1813A>T (p.Lys605Ter) c.838A>T (p.Lys280Ter) c.1552A>T (p.Lys518Ter) n.2348A>T n.2556A>T | |
| 1 | g.197427721A>C | CA344037129 | CRB1 | c.2396A>C (p.Lys799Thr) c.1277A>C (p.Lys426Thr) c.539A>C (p.Lys180Thr) c.2060A>C (p.Lys687Thr) n.297A>C c.2189A>C (p.Lys730Thr) c.2128+5765A>C (n.2128+5765A>C) n.2397A>C n.2605A>C c.1814A>C (p.Lys605Thr) c.839A>C (p.Lys280Thr) c.1553A>C (p.Lys518Thr) n.2349A>C n.2557A>C | |
| 1 | g.197427721A>G | CA344037130 | CRB1 | c.2396A>G (p.Lys799Arg) c.1277A>G (p.Lys426Arg) c.539A>G (p.Lys180Arg) c.2060A>G (p.Lys687Arg) n.297A>G c.2189A>G (p.Lys730Arg) c.2128+5765A>G (n.2128+5765A>G) n.2397A>G n.2605A>G c.1814A>G (p.Lys605Arg) c.839A>G (p.Lys280Arg) c.1553A>G (p.Lys518Arg) n.2349A>G n.2557A>G | |
| 1 | g.197427721A>T | CA344037132 | CRB1 | c.2396A>T (p.Lys799Ile) c.1277A>T (p.Lys426Ile) c.539A>T (p.Lys180Ile) c.2060A>T (p.Lys687Ile) n.297A>T c.2189A>T (p.Lys730Ile) c.2128+5765A>T (n.2128+5765A>T) n.2397A>T n.2605A>T c.1814A>T (p.Lys605Ile) c.839A>T (p.Lys280Ile) c.1553A>T (p.Lys518Ile) n.2349A>T n.2557A>T | |
| 1 | g.197427722A>C | CA344037133 | CRB1 | c.2397A>C (p.Lys799Asn) c.1278A>C (p.Lys426Asn) c.540A>C (p.Lys180Asn) c.2061A>C (p.Lys687Asn) n.298A>C c.2190A>C (p.Lys730Asn) c.2128+5766A>C (n.2128+5766A>C) n.2398A>C n.2606A>C c.1815A>C (p.Lys605Asn) c.840A>C (p.Lys280Asn) c.1554A>C (p.Lys518Asn) n.2350A>C n.2558A>C | |
| 1 | g.197427722A>G | CA422808712 | CRB1 | c.2397A>G (p.Lys799=) c.1278A>G (p.Lys426=) c.540A>G (p.Lys180=) c.2061A>G (p.Lys687=) n.298A>G c.2190A>G (p.Lys730=) c.2128+5766A>G (n.2128+5766A>G) n.2398A>G n.2606A>G c.1815A>G (p.Lys605=) c.840A>G (p.Lys280=) c.1554A>G (p.Lys518=) n.2350A>G n.2558A>G | |
| 1 | g.197427722A>T | CA344037135 | CRB1 | c.2397A>T (p.Lys799Asn) c.1278A>T (p.Lys426Asn) c.540A>T (p.Lys180Asn) c.2061A>T (p.Lys687Asn) n.298A>T c.2190A>T (p.Lys730Asn) c.2128+5766A>T (n.2128+5766A>T) n.2398A>T n.2606A>T c.1815A>T (p.Lys605Asn) c.840A>T (p.Lys280Asn) c.1554A>T (p.Lys518Asn) n.2350A>T n.2558A>T | |
| 1 | g.197427722_197427723insGAT | CA2830534962 | CRB1 | c.2397_2398insGAT (p.Lys799_Ile800insAsp) c.1278_1279insGAT (p.Lys426_Ile427insAsp) c.540_541insGAT (p.Lys180_Ile181insAsp) c.2061_2062insGAT (p.Lys687_Ile688insAsp) n.298_299insGAT c.2190_2191insGAT (p.Lys730_Ile731insAsp) c.2128+5766_2128+5767insGAT (n.2128+5766_2128+5767insGAT) n.2398_2399insGAT n.2606_2607insGAT c.1815_1816insGAT (p.Lys605_Ile606insAsp) c.840_841insGAT (p.Lys280_Ile281insAsp) c.1554_1555insGAT (p.Lys518_Ile519insAsp) n.2350_2351insGAT n.2558_2559insGAT | |
| 1 | g.197427723A= | CA1140913823 | CRB1 | c.2398A= (p.Ile800=) c.1279A= (p.Ile427=) c.541A= (p.Ile181=) c.2062A= (p.Ile688=) n.299A= c.2191A= (p.Ile731=) c.2128+5767A= (n.2128+5767A=) n.2399A= n.2607A= c.1816A= (p.Ile606=) c.841A= (p.Ile281=) c.1555A= (p.Ile519=) n.2351A= n.2559A= | |
| 1 | g.197427723A>C | CA344037138 | CRB1 | c.2398A>C (p.Ile800Leu) c.1279A>C (p.Ile427Leu) c.541A>C (p.Ile181Leu) c.2062A>C (p.Ile688Leu) n.299A>C c.2191A>C (p.Ile731Leu) c.2128+5767A>C (n.2128+5767A>C) n.2399A>C n.2607A>C c.1816A>C (p.Ile606Leu) c.841A>C (p.Ile281Leu) c.1555A>C (p.Ile519Leu) n.2351A>C n.2559A>C | |
| 1 | g.197427723A>G | CA1312115 | CRB1 | c.2398A>G (p.Ile800Val) c.1279A>G (p.Ile427Val) c.541A>G (p.Ile181Val) c.2062A>G (p.Ile688Val) n.299A>G c.2191A>G (p.Ile731Val) c.2128+5767A>G (n.2128+5767A>G) n.2399A>G n.2607A>G c.1816A>G (p.Ile606Val) c.841A>G (p.Ile281Val) c.1555A>G (p.Ile519Val) n.2351A>G n.2559A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427723A>T | CA344037140 | CRB1 | c.2398A>T (p.Ile800Phe) c.1279A>T (p.Ile427Phe) c.541A>T (p.Ile181Phe) c.2062A>T (p.Ile688Phe) n.299A>T c.2191A>T (p.Ile731Phe) c.2128+5767A>T (n.2128+5767A>T) n.2399A>T n.2607A>T c.1816A>T (p.Ile606Phe) c.841A>T (p.Ile281Phe) c.1555A>T (p.Ile519Phe) n.2351A>T n.2559A>T | |
| 1 | g.197427724T>A | CA344037142 | CRB1 | c.2399T>A (p.Ile800Asn) c.1280T>A (p.Ile427Asn) c.542T>A (p.Ile181Asn) c.2063T>A (p.Ile688Asn) n.300T>A c.2192T>A (p.Ile731Asn) c.2128+5768T>A (n.2128+5768T>A) n.2400T>A n.2608T>A c.1817T>A (p.Ile606Asn) c.842T>A (p.Ile281Asn) c.1556T>A (p.Ile519Asn) n.2352T>A n.2560T>A | |
| 1 | g.197427724T>C | CA344037147 | CRB1 | c.2399T>C (p.Ile800Thr) c.1280T>C (p.Ile427Thr) c.542T>C (p.Ile181Thr) c.2063T>C (p.Ile688Thr) n.300T>C c.2192T>C (p.Ile731Thr) c.2128+5768T>C (n.2128+5768T>C) n.2400T>C n.2608T>C c.1817T>C (p.Ile606Thr) c.842T>C (p.Ile281Thr) c.1556T>C (p.Ile519Thr) n.2352T>C n.2560T>C | |
| 1 | g.197427724T>G | CA344037145 | CRB1 | c.2399T>G (p.Ile800Ser) c.1280T>G (p.Ile427Ser) c.542T>G (p.Ile181Ser) c.2063T>G (p.Ile688Ser) n.300T>G c.2192T>G (p.Ile731Ser) c.2128+5768T>G (n.2128+5768T>G) n.2400T>G n.2608T>G c.1817T>G (p.Ile606Ser) c.842T>G (p.Ile281Ser) c.1556T>G (p.Ile519Ser) n.2352T>G n.2560T>G | |
| 1 | g.197427725C>A | CA422808714 | CRB1 | c.2400C>A (p.Ile800=) c.1281C>A (p.Ile427=) c.543C>A (p.Ile181=) c.2064C>A (p.Ile688=) n.301C>A c.2193C>A (p.Ile731=) c.2128+5769C>A (n.2128+5769C>A) n.2401C>A n.2609C>A c.1818C>A (p.Ile606=) c.843C>A (p.Ile281=) c.1557C>A (p.Ile519=) n.2353C>A n.2561C>A | |
| 1 | g.197427725C>G | CA344037150 | CRB1 | c.2400C>G (p.Ile800Met) c.1281C>G (p.Ile427Met) c.543C>G (p.Ile181Met) c.2064C>G (p.Ile688Met) n.301C>G c.2193C>G (p.Ile731Met) c.2128+5769C>G (n.2128+5769C>G) n.2401C>G n.2609C>G c.1818C>G (p.Ile606Met) c.843C>G (p.Ile281Met) c.1557C>G (p.Ile519Met) n.2353C>G n.2561C>G | |
| 1 | g.197427725C>T | CA422808715 | CRB1 | c.2400C>T (p.Ile800=) c.1281C>T (p.Ile427=) c.543C>T (p.Ile181=) c.2064C>T (p.Ile688=) n.301C>T c.2193C>T (p.Ile731=) c.2128+5769C>T (n.2128+5769C>T) n.2401C>T n.2609C>T c.1818C>T (p.Ile606=) c.843C>T (p.Ile281=) c.1557C>T (p.Ile519=) n.2353C>T n.2561C>T | gnomAD v4 COSMIC |
| 1 | g.197427726A= | CA1141581333 | CRB1 | c.2401A= (p.Lys801=) c.1282A= (p.Lys428=) c.544A= (p.Lys182=) c.2065A= (p.Lys689=) n.302A= c.2194A= (p.Lys732=) c.2128+5770A= (n.2128+5770A=) n.2402A= n.2610A= c.1819A= (p.Lys607=) c.844A= (p.Lys282=) c.1558A= (p.Lys520=) n.2354A= n.2562A= | |
| 1 | g.197427726A>C | CA344037152 | CRB1 | c.2401A>C (p.Lys801Gln) c.1282A>C (p.Lys428Gln) c.544A>C (p.Lys182Gln) c.2065A>C (p.Lys689Gln) n.302A>C c.2194A>C (p.Lys732Gln) c.2128+5770A>C (n.2128+5770A>C) n.2402A>C n.2610A>C c.1819A>C (p.Lys607Gln) c.844A>C (p.Lys282Gln) c.1558A>C (p.Lys520Gln) n.2354A>C n.2562A>C | |
| 1 | g.197427726A>G | CA344037154 | CRB1 | c.2401A>G (p.Lys801Glu) c.1282A>G (p.Lys428Glu) c.544A>G (p.Lys182Glu) c.2065A>G (p.Lys689Glu) n.302A>G c.2194A>G (p.Lys732Glu) c.2128+5770A>G (n.2128+5770A>G) n.2402A>G n.2610A>G c.1819A>G (p.Lys607Glu) c.844A>G (p.Lys282Glu) c.1558A>G (p.Lys520Glu) n.2354A>G n.2562A>G | |
| 1 | g.197427726A>T | CA203531 | CRB1 | c.2401A>T (p.Lys801Ter) c.1282A>T (p.Lys428Ter) c.544A>T (p.Lys182Ter) c.2065A>T (p.Lys689Ter) n.302A>T c.2194A>T (p.Lys732Ter) c.2128+5770A>T (n.2128+5770A>T) n.2402A>T n.2610A>T c.1819A>T (p.Lys607Ter) c.844A>T (p.Lys282Ter) c.1558A>T (p.Lys520Ter) n.2354A>T n.2562A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427727A>C | CA344037157 | CRB1 | c.2402A>C (p.Lys801Thr) c.1283A>C (p.Lys428Thr) c.545A>C (p.Lys182Thr) c.2066A>C (p.Lys689Thr) n.303A>C c.2195A>C (p.Lys732Thr) c.2128+5771A>C (n.2128+5771A>C) n.2403A>C n.2611A>C c.1820A>C (p.Lys607Thr) c.845A>C (p.Lys282Thr) c.1559A>C (p.Lys520Thr) n.2355A>C n.2563A>C | |
| 1 | g.197427727A>G | CA344037159 | CRB1 | c.2402A>G (p.Lys801Arg) c.1283A>G (p.Lys428Arg) c.545A>G (p.Lys182Arg) c.2066A>G (p.Lys689Arg) n.303A>G c.2195A>G (p.Lys732Arg) c.2128+5771A>G (n.2128+5771A>G) n.2403A>G n.2611A>G c.1820A>G (p.Lys607Arg) c.845A>G (p.Lys282Arg) c.1559A>G (p.Lys520Arg) n.2355A>G n.2563A>G | |
| 1 | g.197427727A>T | CA344037161 | CRB1 | c.2402A>T (p.Lys801Met) c.1283A>T (p.Lys428Met) c.545A>T (p.Lys182Met) c.2066A>T (p.Lys689Met) n.303A>T c.2195A>T (p.Lys732Met) c.2128+5771A>T (n.2128+5771A>T) n.2403A>T n.2611A>T c.1820A>T (p.Lys607Met) c.845A>T (p.Lys282Met) c.1559A>T (p.Lys520Met) n.2355A>T n.2563A>T | |
| 1 | g.197427728G>A | CA1312116 | CRB1 | c.2403G>A (p.Lys801=) c.1284G>A (p.Lys428=) c.546G>A (p.Lys182=) c.2067G>A (p.Lys689=) n.304G>A c.2196G>A (p.Lys732=) c.2128+5772G>A (n.2128+5772G>A) n.2404G>A n.2612G>A c.1821G>A (p.Lys607=) c.846G>A (p.Lys282=) c.1560G>A (p.Lys520=) n.2356G>A n.2564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427728G>C | CA344037164 | CRB1 | c.2403G>C (p.Lys801Asn) c.1284G>C (p.Lys428Asn) c.546G>C (p.Lys182Asn) c.2067G>C (p.Lys689Asn) n.304G>C c.2196G>C (p.Lys732Asn) c.2128+5772G>C (n.2128+5772G>C) n.2404G>C n.2612G>C c.1821G>C (p.Lys607Asn) c.846G>C (p.Lys282Asn) c.1560G>C (p.Lys520Asn) n.2356G>C n.2564G>C | |
| 1 | g.197427728G= | CA1147340957 | CRB1 | c.2403G= (p.Lys801=) c.1284G= (p.Lys428=) c.546G= (p.Lys182=) c.2067G= (p.Lys689=) n.304G= c.2196G= (p.Lys732=) c.2128+5772G= (n.2128+5772G=) n.2404G= n.2612G= c.1821G= (p.Lys607=) c.846G= (p.Lys282=) c.1560G= (p.Lys520=) n.2356G= n.2564G= | |
| 1 | g.197427728G>T | CA344037166 | CRB1 | c.2403G>T (p.Lys801Asn) c.1284G>T (p.Lys428Asn) c.546G>T (p.Lys182Asn) c.2067G>T (p.Lys689Asn) n.304G>T c.2196G>T (p.Lys732Asn) c.2128+5772G>T (n.2128+5772G>T) n.2404G>T n.2612G>T c.1821G>T (p.Lys607Asn) c.846G>T (p.Lys282Asn) c.1560G>T (p.Lys520Asn) n.2356G>T n.2564G>T | |
| 1 | g.197427728_197427729insTGGA | CA2830534963 | CRB1 | c.2403_2404insTGGA (p.Pro802TrpfsTer4) c.1284_1285insTGGA (p.Pro429TrpfsTer4) c.546_547insTGGA (p.Pro183TrpfsTer4) c.2067_2068insTGGA (p.Pro690TrpfsTer4) n.304_305insTGGA c.2196_2197insTGGA (p.Pro733TrpfsTer4) c.2128+5772_2128+5773insTGGA (n.2128+5772_2128+5773insTGGA) n.2404_2405insTGGA n.2612_2613insTGGA c.1821_1822insTGGA (p.Pro608TrpfsTer4) c.846_847insTGGA (p.Pro283TrpfsTer4) c.1560_1561insTGGA (p.Pro521TrpfsTer4) n.2356_2357insTGGA n.2564_2565insTGGA | |
| 1 | g.197427729C>A | CA344037172 | CRB1 | c.2404C>A (p.Pro802Thr) c.1285C>A (p.Pro429Thr) c.547C>A (p.Pro183Thr) c.2068C>A (p.Pro690Thr) n.305C>A c.2197C>A (p.Pro733Thr) c.2128+5773C>A (n.2128+5773C>A) n.2405C>A n.2613C>A c.1822C>A (p.Pro608Thr) c.847C>A (p.Pro283Thr) c.1561C>A (p.Pro521Thr) n.2357C>A n.2565C>A | gnomAD v4 |
| 1 | g.197427729C= | CA1218066215 | CRB1 | c.2404C= (p.Pro802=) c.1285C= (p.Pro429=) c.547C= (p.Pro183=) c.2068C= (p.Pro690=) n.305C= c.2197C= (p.Pro733=) c.2128+5773C= (n.2128+5773C=) n.2405C= n.2613C= c.1822C= (p.Pro608=) c.847C= (p.Pro283=) c.1561C= (p.Pro521=) n.2357C= n.2565C= | |
| 1 | g.197427729C>G | CA344037170 | CRB1 | c.2404C>G (p.Pro802Ala) c.1285C>G (p.Pro429Ala) c.547C>G (p.Pro183Ala) c.2068C>G (p.Pro690Ala) n.305C>G c.2197C>G (p.Pro733Ala) c.2128+5773C>G (n.2128+5773C>G) n.2405C>G n.2613C>G c.1822C>G (p.Pro608Ala) c.847C>G (p.Pro283Ala) c.1561C>G (p.Pro521Ala) n.2357C>G n.2565C>G | |
| 1 | g.197427729C>T | CA1312117 | CRB1 | c.2404C>T (p.Pro802Ser) c.1285C>T (p.Pro429Ser) c.547C>T (p.Pro183Ser) c.2068C>T (p.Pro690Ser) n.305C>T c.2197C>T (p.Pro733Ser) c.2128+5773C>T (n.2128+5773C>T) n.2405C>T n.2613C>T c.1822C>T (p.Pro608Ser) c.847C>T (p.Pro283Ser) c.1561C>T (p.Pro521Ser) n.2357C>T n.2565C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427730C>A | CA344037175 | CRB1 | c.2405C>A (p.Pro802Gln) c.1286C>A (p.Pro429Gln) c.548C>A (p.Pro183Gln) c.2069C>A (p.Pro690Gln) n.306C>A c.2198C>A (p.Pro733Gln) c.2128+5774C>A (n.2128+5774C>A) n.2406C>A n.2614C>A c.1823C>A (p.Pro608Gln) c.848C>A (p.Pro283Gln) c.1562C>A (p.Pro521Gln) n.2358C>A n.2566C>A | |
| 1 | g.197427730C= | CA1218066218 | CRB1 | c.2405C= (p.Pro802=) c.1286C= (p.Pro429=) c.548C= (p.Pro183=) c.2069C= (p.Pro690=) n.306C= c.2198C= (p.Pro733=) c.2128+5774C= (n.2128+5774C=) n.2406C= n.2614C= c.1823C= (p.Pro608=) c.848C= (p.Pro283=) c.1562C= (p.Pro521=) n.2358C= n.2566C= | |
| 1 | g.197427730C>G | CA344037177 | CRB1 | c.2405C>G (p.Pro802Arg) c.1286C>G (p.Pro429Arg) c.548C>G (p.Pro183Arg) c.2069C>G (p.Pro690Arg) n.306C>G c.2198C>G (p.Pro733Arg) c.2128+5774C>G (n.2128+5774C>G) n.2406C>G n.2614C>G c.1823C>G (p.Pro608Arg) c.848C>G (p.Pro283Arg) c.1562C>G (p.Pro521Arg) n.2358C>G n.2566C>G | |
| 1 | g.197427730C>T | CA344037179 | CRB1 | c.2405C>T (p.Pro802Leu) c.1286C>T (p.Pro429Leu) c.548C>T (p.Pro183Leu) c.2069C>T (p.Pro690Leu) n.306C>T c.2198C>T (p.Pro733Leu) c.2128+5774C>T (n.2128+5774C>T) n.2406C>T n.2614C>T c.1823C>T (p.Pro608Leu) c.848C>T (p.Pro283Leu) c.1562C>T (p.Pro521Leu) n.2358C>T n.2566C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427731A= | CA1141784834 | CRB1 | c.2406A= (p.Pro802=) c.1287A= (p.Pro429=) c.549A= (p.Pro183=) c.2070A= (p.Pro690=) n.307A= c.2199A= (p.Pro733=) c.2128+5775A= (n.2128+5775A=) n.2407A= n.2615A= c.1824A= (p.Pro608=) c.849A= (p.Pro283=) c.1563A= (p.Pro521=) n.2359A= n.2567A= | |
| 1 | g.197427731A>C | CA422808719 | CRB1 | c.2406A>C (p.Pro802=) c.1287A>C (p.Pro429=) c.549A>C (p.Pro183=) c.2070A>C (p.Pro690=) n.307A>C c.2199A>C (p.Pro733=) c.2128+5775A>C (n.2128+5775A>C) n.2407A>C n.2615A>C c.1824A>C (p.Pro608=) c.849A>C (p.Pro283=) c.1563A>C (p.Pro521=) n.2359A>C n.2567A>C | ClinVar dbSNP |
| 1 | g.197427731A>G | CA422808720 | CRB1 | c.2406A>G (p.Pro802=) c.1287A>G (p.Pro429=) c.549A>G (p.Pro183=) c.2070A>G (p.Pro690=) n.307A>G c.2199A>G (p.Pro733=) c.2128+5775A>G (n.2128+5775A>G) n.2407A>G n.2615A>G c.1824A>G (p.Pro608=) c.849A>G (p.Pro283=) c.1563A>G (p.Pro521=) n.2359A>G n.2567A>G | ClinVar gnomAD v4 |
| 1 | g.197427731A>T | CA35900825 | CRB1 | c.2406A>T (p.Pro802=) c.1287A>T (p.Pro429=) c.549A>T (p.Pro183=) c.2070A>T (p.Pro690=) n.307A>T c.2199A>T (p.Pro733=) c.2128+5775A>T (n.2128+5775A>T) n.2407A>T n.2615A>T c.1824A>T (p.Pro608=) c.849A>T (p.Pro283=) c.1563A>T (p.Pro521=) n.2359A>T n.2567A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197427732T>A | CA344037184 | CRB1 | c.2407T>A (p.Tyr803Asn) c.1288T>A (p.Tyr430Asn) c.550T>A (p.Tyr184Asn) c.2071T>A (p.Tyr691Asn) n.308T>A c.2200T>A (p.Tyr734Asn) c.2128+5776T>A (n.2128+5776T>A) n.2408T>A n.2616T>A c.1825T>A (p.Tyr609Asn) c.850T>A (p.Tyr284Asn) c.1564T>A (p.Tyr522Asn) n.2360T>A n.2568T>A | dbSNP |
| 1 | g.197427732T>C | CA344037186 | CRB1 | c.2407T>C (p.Tyr803His) c.1288T>C (p.Tyr430His) c.550T>C (p.Tyr184His) c.2071T>C (p.Tyr691His) n.308T>C c.2200T>C (p.Tyr734His) c.2128+5776T>C (n.2128+5776T>C) n.2408T>C n.2616T>C c.1825T>C (p.Tyr609His) c.850T>C (p.Tyr284His) c.1564T>C (p.Tyr522His) n.2360T>C n.2568T>C | |
| 1 | g.197427732T>G | CA344037188 | CRB1 | c.2407T>G (p.Tyr803Asp) c.1288T>G (p.Tyr430Asp) c.550T>G (p.Tyr184Asp) c.2071T>G (p.Tyr691Asp) n.308T>G c.2200T>G (p.Tyr734Asp) c.2128+5776T>G (n.2128+5776T>G) n.2408T>G n.2616T>G c.1825T>G (p.Tyr609Asp) c.850T>G (p.Tyr284Asp) c.1564T>G (p.Tyr522Asp) n.2360T>G n.2568T>G | |
| 1 | g.197427733A= | CA1218066220 | CRB1 | c.2408A= (p.Tyr803=) c.1289A= (p.Tyr430=) c.551A= (p.Tyr184=) c.2072A= (p.Tyr691=) n.309A= c.2201A= (p.Tyr734=) c.2128+5777A= (n.2128+5777A=) n.2409A= n.2617A= c.1826A= (p.Tyr609=) c.851A= (p.Tyr284=) c.1565A= (p.Tyr522=) n.2361A= n.2569A= | |
| 1 | g.197427733A>C | CA344037194 | CRB1 | c.2408A>C (p.Tyr803Ser) c.1289A>C (p.Tyr430Ser) c.551A>C (p.Tyr184Ser) c.2072A>C (p.Tyr691Ser) n.309A>C c.2201A>C (p.Tyr734Ser) c.2128+5777A>C (n.2128+5777A>C) n.2409A>C n.2617A>C c.1826A>C (p.Tyr609Ser) c.851A>C (p.Tyr284Ser) c.1565A>C (p.Tyr522Ser) n.2361A>C n.2569A>C | |
| 1 | g.197427733A>G | CA1312118 | CRB1 | c.2408A>G (p.Tyr803Cys) c.1289A>G (p.Tyr430Cys) c.551A>G (p.Tyr184Cys) c.2072A>G (p.Tyr691Cys) n.309A>G c.2201A>G (p.Tyr734Cys) c.2128+5777A>G (n.2128+5777A>G) n.2409A>G n.2617A>G c.1826A>G (p.Tyr609Cys) c.851A>G (p.Tyr284Cys) c.1565A>G (p.Tyr522Cys) n.2361A>G n.2569A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427733A>T | CA344037192 | CRB1 | c.2408A>T (p.Tyr803Phe) c.1289A>T (p.Tyr430Phe) c.551A>T (p.Tyr184Phe) c.2072A>T (p.Tyr691Phe) n.309A>T c.2201A>T (p.Tyr734Phe) c.2128+5777A>T (n.2128+5777A>T) n.2409A>T n.2617A>T c.1826A>T (p.Tyr609Phe) c.851A>T (p.Tyr284Phe) c.1565A>T (p.Tyr522Phe) n.2361A>T n.2569A>T | |
| 1 | g.197427734T>A | CA344037196 | CRB1 | c.2409T>A (p.Tyr803Ter) c.1290T>A (p.Tyr430Ter) c.552T>A (p.Tyr184Ter) c.2073T>A (p.Tyr691Ter) n.310T>A c.2202T>A (p.Tyr734Ter) c.2128+5778T>A (n.2128+5778T>A) n.2410T>A n.2618T>A c.1827T>A (p.Tyr609Ter) c.852T>A (p.Tyr284Ter) c.1566T>A (p.Tyr522Ter) n.2362T>A n.2570T>A | |
| 1 | g.197427734T>C | CA422808721 | CRB1 | c.2409T>C (p.Tyr803=) c.1290T>C (p.Tyr430=) c.552T>C (p.Tyr184=) c.2073T>C (p.Tyr691=) n.310T>C c.2202T>C (p.Tyr734=) c.2128+5778T>C (n.2128+5778T>C) n.2410T>C n.2618T>C c.1827T>C (p.Tyr609=) c.852T>C (p.Tyr284=) c.1566T>C (p.Tyr522=) n.2362T>C n.2570T>C | |
| 1 | g.197427734T>G | CA344037198 | CRB1 | c.2409T>G (p.Tyr803Ter) c.1290T>G (p.Tyr430Ter) c.552T>G (p.Tyr184Ter) c.2073T>G (p.Tyr691Ter) n.310T>G c.2202T>G (p.Tyr734Ter) c.2128+5778T>G (n.2128+5778T>G) n.2410T>G n.2618T>G c.1827T>G (p.Tyr609Ter) c.852T>G (p.Tyr284Ter) c.1566T>G (p.Tyr522Ter) n.2362T>G n.2570T>G | |
| 1 | g.197427735A>C | CA344037200 | CRB1 | c.2410A>C (p.Lys804Gln) c.1291A>C (p.Lys431Gln) c.553A>C (p.Lys185Gln) c.2074A>C (p.Lys692Gln) n.311A>C c.2203A>C (p.Lys735Gln) c.2128+5779A>C (n.2128+5779A>C) n.2411A>C n.2619A>C c.1828A>C (p.Lys610Gln) c.853A>C (p.Lys285Gln) c.1567A>C (p.Lys523Gln) n.2363A>C n.2571A>C | |
| 1 | g.197427735A>G | CA344037202 | CRB1 | c.2410A>G (p.Lys804Glu) c.1291A>G (p.Lys431Glu) c.553A>G (p.Lys185Glu) c.2074A>G (p.Lys692Glu) n.311A>G c.2203A>G (p.Lys735Glu) c.2128+5779A>G (n.2128+5779A>G) n.2411A>G n.2619A>G c.1828A>G (p.Lys610Glu) c.853A>G (p.Lys285Glu) c.1567A>G (p.Lys523Glu) n.2363A>G n.2571A>G | |
| 1 | g.197427735A>T | CA344037203 | CRB1 | c.2410A>T (p.Lys804Ter) c.1291A>T (p.Lys431Ter) c.553A>T (p.Lys185Ter) c.2074A>T (p.Lys692Ter) n.311A>T c.2203A>T (p.Lys735Ter) c.2128+5779A>T (n.2128+5779A>T) n.2411A>T n.2619A>T c.1828A>T (p.Lys610Ter) c.853A>T (p.Lys285Ter) c.1567A>T (p.Lys523Ter) n.2363A>T n.2571A>T | |
| 1 | g.197427738del | CA2586964522 | CRB1 | c.2413del (p.Ile805LeufsTer10) c.1294del (p.Ile432LeufsTer10) c.556del (p.Ile186LeufsTer10) c.2077del (p.Ile693LeufsTer10) n.314del c.2206del (p.Ile736LeufsTer10) c.2128+5782del (n.2128+5782del) n.2414del n.2622del c.1831del (p.Ile611LeufsTer10) c.856del (p.Ile286LeufsTer10) c.1570del (p.Ile524LeufsTer10) n.2366del n.2574del | |
| 1 | g.197427736A>C | CA344037206 | CRB1 | c.2411A>C (p.Lys804Thr) c.1292A>C (p.Lys431Thr) c.554A>C (p.Lys185Thr) c.2075A>C (p.Lys692Thr) n.312A>C c.2204A>C (p.Lys735Thr) c.2128+5780A>C (n.2128+5780A>C) n.2412A>C n.2620A>C c.1829A>C (p.Lys610Thr) c.854A>C (p.Lys285Thr) c.1568A>C (p.Lys523Thr) n.2364A>C n.2572A>C | |
| 1 | g.197427736A>G | CA344037210 | CRB1 | c.2411A>G (p.Lys804Arg) c.1292A>G (p.Lys431Arg) c.554A>G (p.Lys185Arg) c.2075A>G (p.Lys692Arg) n.312A>G c.2204A>G (p.Lys735Arg) c.2128+5780A>G (n.2128+5780A>G) n.2412A>G n.2620A>G c.1829A>G (p.Lys610Arg) c.854A>G (p.Lys285Arg) c.1568A>G (p.Lys523Arg) n.2364A>G n.2572A>G | |
| 1 | g.197427736A>T | CA344037208 | CRB1 | c.2411A>T (p.Lys804Ile) c.1292A>T (p.Lys431Ile) c.554A>T (p.Lys185Ile) c.2075A>T (p.Lys692Ile) n.312A>T c.2204A>T (p.Lys735Ile) c.2128+5780A>T (n.2128+5780A>T) n.2412A>T n.2620A>T c.1829A>T (p.Lys610Ile) c.854A>T (p.Lys285Ile) c.1568A>T (p.Lys523Ile) n.2364A>T n.2572A>T | |
| 1 | g.197427737A>C | CA344037213 | CRB1 | c.2412A>C (p.Lys804Asn) c.1293A>C (p.Lys431Asn) c.555A>C (p.Lys185Asn) c.2076A>C (p.Lys692Asn) n.313A>C c.2205A>C (p.Lys735Asn) c.2128+5781A>C (n.2128+5781A>C) n.2413A>C n.2621A>C c.1830A>C (p.Lys610Asn) c.855A>C (p.Lys285Asn) c.1569A>C (p.Lys523Asn) n.2365A>C n.2573A>C | |
| 1 | g.197427737A>G | CA422808723 | CRB1 | c.2412A>G (p.Lys804=) c.1293A>G (p.Lys431=) c.555A>G (p.Lys185=) c.2076A>G (p.Lys692=) n.313A>G c.2205A>G (p.Lys735=) c.2128+5781A>G (n.2128+5781A>G) n.2413A>G n.2621A>G c.1830A>G (p.Lys610=) c.855A>G (p.Lys285=) c.1569A>G (p.Lys523=) n.2365A>G n.2573A>G | |
| 1 | g.197427737A>T | CA344037215 | CRB1 | c.2412A>T (p.Lys804Asn) c.1293A>T (p.Lys431Asn) c.555A>T (p.Lys185Asn) c.2076A>T (p.Lys692Asn) n.313A>T c.2205A>T (p.Lys735Asn) c.2128+5781A>T (n.2128+5781A>T) n.2413A>T n.2621A>T c.1830A>T (p.Lys610Asn) c.855A>T (p.Lys285Asn) c.1569A>T (p.Lys523Asn) n.2365A>T n.2573A>T | |
| 1 | g.197427738A= | CA1218066221 | CRB1 | c.2413A= (p.Ile805=) c.1294A= (p.Ile432=) c.556A= (p.Ile186=) c.2077A= (p.Ile693=) n.314A= c.2206A= (p.Ile736=) c.2128+5782A= (n.2128+5782A=) n.2414A= n.2622A= c.1831A= (p.Ile611=) c.856A= (p.Ile286=) c.1570A= (p.Ile524=) n.2366A= n.2574A= | |
| 1 | g.197427738A>C | CA344037217 | CRB1 | c.2413A>C (p.Ile805Leu) c.1294A>C (p.Ile432Leu) c.556A>C (p.Ile186Leu) c.2077A>C (p.Ile693Leu) n.314A>C c.2206A>C (p.Ile736Leu) c.2128+5782A>C (n.2128+5782A>C) n.2414A>C n.2622A>C c.1831A>C (p.Ile611Leu) c.856A>C (p.Ile286Leu) c.1570A>C (p.Ile524Leu) n.2366A>C n.2574A>C | gnomAD v4 |
| 1 | g.197427738A>G | CA1312119 | CRB1 | c.2413A>G (p.Ile805Val) c.1294A>G (p.Ile432Val) c.556A>G (p.Ile186Val) c.2077A>G (p.Ile693Val) n.314A>G c.2206A>G (p.Ile736Val) c.2128+5782A>G (n.2128+5782A>G) n.2414A>G n.2622A>G c.1831A>G (p.Ile611Val) c.856A>G (p.Ile286Val) c.1570A>G (p.Ile524Val) n.2366A>G n.2574A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.197427738A>T | CA344037220 | CRB1 | c.2413A>T (p.Ile805Phe) c.1294A>T (p.Ile432Phe) c.556A>T (p.Ile186Phe) c.2077A>T (p.Ile693Phe) n.314A>T c.2206A>T (p.Ile736Phe) c.2128+5782A>T (n.2128+5782A>T) n.2414A>T n.2622A>T c.1831A>T (p.Ile611Phe) c.856A>T (p.Ile286Phe) c.1570A>T (p.Ile524Phe) n.2366A>T n.2574A>T | |
| 1 | g.197427739T>A | CA344037223 | CRB1 | c.2414T>A (p.Ile805Asn) c.1295T>A (p.Ile432Asn) c.557T>A (p.Ile186Asn) c.2078T>A (p.Ile693Asn) n.315T>A c.2207T>A (p.Ile736Asn) c.2128+5783T>A (n.2128+5783T>A) n.2415T>A n.2623T>A c.1832T>A (p.Ile611Asn) c.857T>A (p.Ile286Asn) c.1571T>A (p.Ile524Asn) n.2367T>A n.2575T>A | |
| 1 | g.197427739T>C | CA35900834 | CRB1 | c.2414T>C (p.Ile805Thr) c.1295T>C (p.Ile432Thr) c.557T>C (p.Ile186Thr) c.2078T>C (p.Ile693Thr) n.315T>C c.2207T>C (p.Ile736Thr) c.2128+5783T>C (n.2128+5783T>C) n.2415T>C n.2623T>C c.1832T>C (p.Ile611Thr) c.857T>C (p.Ile286Thr) c.1571T>C (p.Ile524Thr) n.2367T>C n.2575T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427739T>G | CA344037225 | CRB1 | c.2414T>G (p.Ile805Ser) c.1295T>G (p.Ile432Ser) c.557T>G (p.Ile186Ser) c.2078T>G (p.Ile693Ser) n.315T>G c.2207T>G (p.Ile736Ser) c.2128+5783T>G (n.2128+5783T>G) n.2415T>G n.2623T>G c.1832T>G (p.Ile611Ser) c.857T>G (p.Ile286Ser) c.1571T>G (p.Ile524Ser) n.2367T>G n.2575T>G | |
| 1 | g.197427739T= | CA1141993183 | CRB1 | c.2414T= (p.Ile805=) c.1295T= (p.Ile432=) c.557T= (p.Ile186=) c.2078T= (p.Ile693=) n.315T= c.2207T= (p.Ile736=) c.2128+5783T= (n.2128+5783T=) n.2415T= n.2623T= c.1832T= (p.Ile611=) c.857T= (p.Ile286=) c.1571T= (p.Ile524=) n.2367T= n.2575T= | |
| 1 | g.197427740T>A | CA422808725 | CRB1 | c.2415T>A (p.Ile805=) c.1296T>A (p.Ile432=) c.558T>A (p.Ile186=) c.2079T>A (p.Ile693=) n.316T>A c.2208T>A (p.Ile736=) c.2128+5784T>A (n.2128+5784T>A) n.2416T>A n.2624T>A c.1833T>A (p.Ile611=) c.858T>A (p.Ile286=) c.1572T>A (p.Ile524=) n.2368T>A n.2576T>A | |
| 1 | g.197427740T>C | CA422808724 | CRB1 | c.2415T>C (p.Ile805=) c.1296T>C (p.Ile432=) c.558T>C (p.Ile186=) c.2079T>C (p.Ile693=) n.316T>C c.2208T>C (p.Ile736=) c.2128+5784T>C (n.2128+5784T>C) n.2416T>C n.2624T>C c.1833T>C (p.Ile611=) c.858T>C (p.Ile286=) c.1572T>C (p.Ile524=) n.2368T>C n.2576T>C | |
| 1 | g.197427740T>G | CA344037228 | CRB1 | c.2415T>G (p.Ile805Met) c.1296T>G (p.Ile432Met) c.558T>G (p.Ile186Met) c.2079T>G (p.Ile693Met) n.316T>G c.2208T>G (p.Ile736Met) c.2128+5784T>G (n.2128+5784T>G) n.2416T>G n.2624T>G c.1833T>G (p.Ile611Met) c.858T>G (p.Ile286Met) c.1572T>G (p.Ile524Met) n.2368T>G n.2576T>G | |
| 1 | g.197427741G>A | CA344037231 | CRB1 | c.2416G>A (p.Glu806Lys) c.1297G>A (p.Glu433Lys) c.559G>A (p.Glu187Lys) c.2080G>A (p.Glu694Lys) n.317G>A c.2209G>A (p.Glu737Lys) c.2128+5785G>A (n.2128+5785G>A) n.2417G>A n.2625G>A c.1834G>A (p.Glu612Lys) c.859G>A (p.Glu287Lys) c.1573G>A (p.Glu525Lys) n.2369G>A n.2577G>A | COSMIC COSMIC |
| 1 | g.197427741G>C | CA1312120 | CRB1 | c.2416G>C (p.Glu806Gln) c.1297G>C (p.Glu433Gln) c.559G>C (p.Glu187Gln) c.2080G>C (p.Glu694Gln) n.317G>C c.2209G>C (p.Glu737Gln) c.2128+5785G>C (n.2128+5785G>C) n.2417G>C n.2625G>C c.1834G>C (p.Glu612Gln) c.859G>C (p.Glu287Gln) c.1573G>C (p.Glu525Gln) n.2369G>C n.2577G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427741G= | CA1218066228 | CRB1 | c.2416G= (p.Glu806=) c.1297G= (p.Glu433=) c.559G= (p.Glu187=) c.2080G= (p.Glu694=) n.317G= c.2209G= (p.Glu737=) c.2128+5785G= (n.2128+5785G=) n.2417G= n.2625G= c.1834G= (p.Glu612=) c.859G= (p.Glu287=) c.1573G= (p.Glu525=) n.2369G= n.2577G= | |
| 1 | g.197427741G>T | CA344037234 | CRB1 | c.2416G>T (p.Glu806Ter) c.1297G>T (p.Glu433Ter) c.559G>T (p.Glu187Ter) c.2080G>T (p.Glu694Ter) n.317G>T c.2209G>T (p.Glu737Ter) c.2128+5785G>T (n.2128+5785G>T) n.2417G>T n.2625G>T c.1834G>T (p.Glu612Ter) c.859G>T (p.Glu287Ter) c.1573G>T (p.Glu525Ter) n.2369G>T n.2577G>T | ClinVar dbSNP |
| 1 | g.197427742A>C | CA344037236 | CRB1 | c.2417A>C (p.Glu806Ala) c.1298A>C (p.Glu433Ala) c.560A>C (p.Glu187Ala) c.2081A>C (p.Glu694Ala) n.318A>C c.2210A>C (p.Glu737Ala) c.2128+5786A>C (n.2128+5786A>C) n.2418A>C n.2626A>C c.1835A>C (p.Glu612Ala) c.860A>C (p.Glu287Ala) c.1574A>C (p.Glu525Ala) n.2370A>C n.2578A>C | |
| 1 | g.197427742A>G | CA344037241 | CRB1 | c.2417A>G (p.Glu806Gly) c.1298A>G (p.Glu433Gly) c.560A>G (p.Glu187Gly) c.2081A>G (p.Glu694Gly) n.318A>G c.2210A>G (p.Glu737Gly) c.2128+5786A>G (n.2128+5786A>G) n.2418A>G n.2626A>G c.1835A>G (p.Glu612Gly) c.860A>G (p.Glu287Gly) c.1574A>G (p.Glu525Gly) n.2370A>G n.2578A>G | |
| 1 | g.197427742A>T | CA344037239 | CRB1 | c.2417A>T (p.Glu806Val) c.1298A>T (p.Glu433Val) c.560A>T (p.Glu187Val) c.2081A>T (p.Glu694Val) n.318A>T c.2210A>T (p.Glu737Val) c.2128+5786A>T (n.2128+5786A>T) n.2418A>T n.2626A>T c.1835A>T (p.Glu612Val) c.860A>T (p.Glu287Val) c.1574A>T (p.Glu525Val) n.2370A>T n.2578A>T | |
| 1 | g.197427743A= | CA1218066230 | CRB1 | c.2418A= (p.Glu806=) c.1299A= (p.Glu433=) c.561A= (p.Glu187=) c.2082A= (p.Glu694=) n.319A= c.2211A= (p.Glu737=) c.2128+5787A= (n.2128+5787A=) n.2419A= n.2627A= c.1836A= (p.Glu612=) c.861A= (p.Glu287=) c.1575A= (p.Glu525=) n.2371A= n.2579A= | |
| 1 | g.197427743A>C | CA344037243 | CRB1 | c.2418A>C (p.Glu806Asp) c.1299A>C (p.Glu433Asp) c.561A>C (p.Glu187Asp) c.2082A>C (p.Glu694Asp) n.319A>C c.2211A>C (p.Glu737Asp) c.2128+5787A>C (n.2128+5787A>C) n.2419A>C n.2627A>C c.1836A>C (p.Glu612Asp) c.861A>C (p.Glu287Asp) c.1575A>C (p.Glu525Asp) n.2371A>C n.2579A>C | dbSNP gnomAD v2 |
| 1 | g.197427743A>G | CA422808728 | CRB1 | c.2418A>G (p.Glu806=) c.1299A>G (p.Glu433=) c.561A>G (p.Glu187=) c.2082A>G (p.Glu694=) n.319A>G c.2211A>G (p.Glu737=) c.2128+5787A>G (n.2128+5787A>G) n.2419A>G n.2627A>G c.1836A>G (p.Glu612=) c.861A>G (p.Glu287=) c.1575A>G (p.Glu525=) n.2371A>G n.2579A>G | |
| 1 | g.197427743A>T | CA344037245 | CRB1 | c.2418A>T (p.Glu806Asp) c.1299A>T (p.Glu433Asp) c.561A>T (p.Glu187Asp) c.2082A>T (p.Glu694Asp) n.319A>T c.2211A>T (p.Glu737Asp) c.2128+5787A>T (n.2128+5787A>T) n.2419A>T n.2627A>T c.1836A>T (p.Glu612Asp) c.861A>T (p.Glu287Asp) c.1575A>T (p.Glu525Asp) n.2371A>T n.2579A>T | |
| 1 | g.197427744C>A | CA344037247 | CRB1 | c.2419C>A (p.Leu807Met) c.1300C>A (p.Leu434Met) c.562C>A (p.Leu188Met) c.2083C>A (p.Leu695Met) n.320C>A c.2212C>A (p.Leu738Met) c.2128+5788C>A (n.2128+5788C>A) n.2420C>A n.2628C>A c.1837C>A (p.Leu613Met) c.862C>A (p.Leu288Met) c.1576C>A (p.Leu526Met) n.2372C>A n.2580C>A | |
| 1 | g.197427744C= | CA1143772734 | CRB1 | c.2419C= (p.Leu807=) c.1300C= (p.Leu434=) c.562C= (p.Leu188=) c.2083C= (p.Leu695=) n.320C= c.2212C= (p.Leu738=) c.2128+5788C= (n.2128+5788C=) n.2420C= n.2628C= c.1837C= (p.Leu613=) c.862C= (p.Leu288=) c.1576C= (p.Leu526=) n.2372C= n.2580C= | |
| 1 | g.197427744C>G | CA344037249 | CRB1 | c.2419C>G (p.Leu807Val) c.1300C>G (p.Leu434Val) c.562C>G (p.Leu188Val) c.2083C>G (p.Leu695Val) n.320C>G c.2212C>G (p.Leu738Val) c.2128+5788C>G (n.2128+5788C>G) n.2420C>G n.2628C>G c.1837C>G (p.Leu613Val) c.862C>G (p.Leu288Val) c.1576C>G (p.Leu526Val) n.2372C>G n.2580C>G | |
| 1 | g.197427744C>T | CA1312121 | CRB1 | c.2419C>T (p.Leu807=) c.1300C>T (p.Leu434=) c.562C>T (p.Leu188=) c.2083C>T (p.Leu695=) n.320C>T c.2212C>T (p.Leu738=) c.2128+5788C>T (n.2128+5788C>T) n.2420C>T n.2628C>T c.1837C>T (p.Leu613=) c.862C>T (p.Leu288=) c.1576C>T (p.Leu526=) n.2372C>T n.2580C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427745T>A | CA344037252 | CRB1 | c.2420T>A (p.Leu807Gln) c.1301T>A (p.Leu434Gln) c.563T>A (p.Leu188Gln) c.2084T>A (p.Leu695Gln) n.321T>A c.2213T>A (p.Leu738Gln) c.2128+5789T>A (n.2128+5789T>A) n.2421T>A n.2629T>A c.1838T>A (p.Leu613Gln) c.863T>A (p.Leu288Gln) c.1577T>A (p.Leu526Gln) n.2373T>A n.2581T>A | |
| 1 | g.197427745T>C | CA344037254 | CRB1 | c.2420T>C (p.Leu807Pro) c.1301T>C (p.Leu434Pro) c.563T>C (p.Leu188Pro) c.2084T>C (p.Leu695Pro) n.321T>C c.2213T>C (p.Leu738Pro) c.2128+5789T>C (n.2128+5789T>C) n.2421T>C n.2629T>C c.1838T>C (p.Leu613Pro) c.863T>C (p.Leu288Pro) c.1577T>C (p.Leu526Pro) n.2373T>C n.2581T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427745T>G | CA344037255 | CRB1 | c.2420T>G (p.Leu807Arg) c.1301T>G (p.Leu434Arg) c.563T>G (p.Leu188Arg) c.2084T>G (p.Leu695Arg) n.321T>G c.2213T>G (p.Leu738Arg) c.2128+5789T>G (n.2128+5789T>G) n.2421T>G n.2629T>G c.1838T>G (p.Leu613Arg) c.863T>G (p.Leu288Arg) c.1577T>G (p.Leu526Arg) n.2373T>G n.2581T>G | ClinVar |
| 1 | g.197427745T= | CA1218066235 | CRB1 | c.2420T= (p.Leu807=) c.1301T= (p.Leu434=) c.563T= (p.Leu188=) c.2084T= (p.Leu695=) n.321T= c.2213T= (p.Leu738=) c.2128+5789T= (n.2128+5789T=) n.2421T= n.2629T= c.1838T= (p.Leu613=) c.863T= (p.Leu288=) c.1577T= (p.Leu526=) n.2373T= n.2581T= | |
| 1 | g.197427745_197427746insACTAATTTGGGAGAGTTTG | CA2571443668 | CRB1 | c.2420_2421insACTAATTTGGGAGAGTTTG (p.Tyr808LeufsTer36) c.1301_1302insACTAATTTGGGAGAGTTTG (p.Tyr435LeufsTer36) c.563_564insACTAATTTGGGAGAGTTTG (p.Tyr189LeufsTer36) c.2084_2085insACTAATTTGGGAGAGTTTG (p.Tyr696LeufsTer36) n.321_322insACTAATTTGGGAGAGTTTG c.2213_2214insACTAATTTGGGAGAGTTTG (p.Tyr739LeufsTer36) c.2128+5789_2128+5790insACTAATTTGGGAGAGTTTG (n.2128+5789_2128+5790insACTAATTTGGGAGAGTTTG) n.2421_2422insACTAATTTGGGAGAGTTTG n.2629_2630insACTAATTTGGGAGAGTTTG c.1838_1839insACTAATTTGGGAGAGTTTG (p.Tyr614LeufsTer36) c.863_864insACTAATTTGGGAGAGTTTG (p.Tyr289LeufsTer36) c.1577_1578insACTAATTTGGGAGAGTTTG (p.Tyr527LeufsTer36) n.2373_2374insACTAATTTGGGAGAGTTTG n.2581_2582insACTAATTTGGGAGAGTTTG | |
| 1 | g.197427746G>A | CA422808729 | CRB1 | c.2421G>A (p.Leu807=) c.1302G>A (p.Leu434=) c.564G>A (p.Leu188=) c.2085G>A (p.Leu695=) n.322G>A c.2214G>A (p.Leu738=) c.2128+5790G>A (n.2128+5790G>A) n.2422G>A n.2630G>A c.1839G>A (p.Leu613=) c.864G>A (p.Leu288=) c.1578G>A (p.Leu526=) n.2374G>A n.2582G>A | |
| 1 | g.197427746G>C | CA422808731 | CRB1 | c.2421G>C (p.Leu807=) c.1302G>C (p.Leu434=) c.564G>C (p.Leu188=) c.2085G>C (p.Leu695=) n.322G>C c.2214G>C (p.Leu738=) c.2128+5790G>C (n.2128+5790G>C) n.2422G>C n.2630G>C c.1839G>C (p.Leu613=) c.864G>C (p.Leu288=) c.1578G>C (p.Leu526=) n.2374G>C n.2582G>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427746G>T | CA422808732 | CRB1 | c.2421G>T (p.Leu807=) c.1302G>T (p.Leu434=) c.564G>T (p.Leu188=) c.2085G>T (p.Leu695=) n.322G>T c.2214G>T (p.Leu738=) c.2128+5790G>T (n.2128+5790G>T) n.2422G>T n.2630G>T c.1839G>T (p.Leu613=) c.864G>T (p.Leu288=) c.1578G>T (p.Leu526=) n.2374G>T n.2582G>T | |
| 1 | g.197427747T>A | CA344037258 | CRB1 | c.2422T>A (p.Tyr808Asn) c.1303T>A (p.Tyr435Asn) c.565T>A (p.Tyr189Asn) c.2086T>A (p.Tyr696Asn) n.323T>A c.2215T>A (p.Tyr739Asn) c.2128+5791T>A (n.2128+5791T>A) n.2423T>A n.2631T>A c.1840T>A (p.Tyr614Asn) c.865T>A (p.Tyr289Asn) c.1579T>A (p.Tyr527Asn) n.2375T>A n.2583T>A | |
| 1 | g.197427747T>C | CA344037259 | CRB1 | c.2422T>C (p.Tyr808His) c.1303T>C (p.Tyr435His) c.565T>C (p.Tyr189His) c.2086T>C (p.Tyr696His) n.323T>C c.2215T>C (p.Tyr739His) c.2128+5791T>C (n.2128+5791T>C) n.2423T>C n.2631T>C c.1840T>C (p.Tyr614His) c.865T>C (p.Tyr289His) c.1579T>C (p.Tyr527His) n.2375T>C n.2583T>C | gnomAD v4 |
| 1 | g.197427747T>G | CA344037261 | CRB1 | c.2422T>G (p.Tyr808Asp) c.1303T>G (p.Tyr435Asp) c.565T>G (p.Tyr189Asp) c.2086T>G (p.Tyr696Asp) n.323T>G c.2215T>G (p.Tyr739Asp) c.2128+5791T>G (n.2128+5791T>G) n.2423T>G n.2631T>G c.1840T>G (p.Tyr614Asp) c.865T>G (p.Tyr289Asp) c.1579T>G (p.Tyr527Asp) n.2375T>G n.2583T>G | gnomAD v4 |
| 1 | g.197427748A= | CA1218066242 | CRB1 | c.2423A= (p.Tyr808=) c.1304A= (p.Tyr435=) c.566A= (p.Tyr189=) c.2087A= (p.Tyr696=) n.324A= c.2216A= (p.Tyr739=) c.2128+5792A= (n.2128+5792A=) n.2424A= n.2632A= c.1841A= (p.Tyr614=) c.866A= (p.Tyr289=) c.1580A= (p.Tyr527=) n.2376A= n.2584A= | |
| 1 | g.197427748A>C | CA344037267 | CRB1 | c.2423A>C (p.Tyr808Ser) c.1304A>C (p.Tyr435Ser) c.566A>C (p.Tyr189Ser) c.2087A>C (p.Tyr696Ser) n.324A>C c.2216A>C (p.Tyr739Ser) c.2128+5792A>C (n.2128+5792A>C) n.2424A>C n.2632A>C c.1841A>C (p.Tyr614Ser) c.866A>C (p.Tyr289Ser) c.1580A>C (p.Tyr527Ser) n.2376A>C n.2584A>C | |
| 1 | g.197427748A>G | CA35900848 | CRB1 | c.2423A>G (p.Tyr808Cys) c.1304A>G (p.Tyr435Cys) c.566A>G (p.Tyr189Cys) c.2087A>G (p.Tyr696Cys) n.324A>G c.2216A>G (p.Tyr739Cys) c.2128+5792A>G (n.2128+5792A>G) n.2424A>G n.2632A>G c.1841A>G (p.Tyr614Cys) c.866A>G (p.Tyr289Cys) c.1580A>G (p.Tyr527Cys) n.2376A>G n.2584A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427748A>T | CA344037264 | CRB1 | c.2423A>T (p.Tyr808Phe) c.1304A>T (p.Tyr435Phe) c.566A>T (p.Tyr189Phe) c.2087A>T (p.Tyr696Phe) n.324A>T c.2216A>T (p.Tyr739Phe) c.2128+5792A>T (n.2128+5792A>T) n.2424A>T n.2632A>T c.1841A>T (p.Tyr614Phe) c.866A>T (p.Tyr289Phe) c.1580A>T (p.Tyr527Phe) n.2376A>T n.2584A>T | dbSNP gnomAD v4 |
| 1 | g.197427748_197427749insCT | CA2649670118 | CRB1 | c.2423_2424insCT (p.Gln809PhefsTer7) c.1304_1305insCT (p.Gln436PhefsTer7) c.566_567insCT (p.Gln190PhefsTer7) c.2087_2088insCT (p.Gln697PhefsTer7) n.324_325insCT c.2216_2217insCT (p.Gln740PhefsTer7) c.2128+5792_2128+5793insCT (n.2128+5792_2128+5793insCT) n.2424_2425insCT n.2632_2633insCT c.1841_1842insCT (p.Gln615PhefsTer7) c.866_867insCT (p.Gln290PhefsTer7) c.1580_1581insCT (p.Gln528PhefsTer7) n.2376_2377insCT n.2584_2585insCT | gnomAD v4 |
| 1 | g.197427749T>A | CA344037270 | CRB1 | c.2424T>A (p.Tyr808Ter) c.1305T>A (p.Tyr435Ter) c.567T>A (p.Tyr189Ter) c.2088T>A (p.Tyr696Ter) n.325T>A c.2217T>A (p.Tyr739Ter) c.2128+5793T>A (n.2128+5793T>A) n.2425T>A n.2633T>A c.1842T>A (p.Tyr614Ter) c.867T>A (p.Tyr289Ter) c.1581T>A (p.Tyr527Ter) n.2377T>A n.2585T>A | |
| 1 | g.197427749T>C | CA422808734 | CRB1 | c.2424T>C (p.Tyr808=) c.1305T>C (p.Tyr435=) c.567T>C (p.Tyr189=) c.2088T>C (p.Tyr696=) n.325T>C c.2217T>C (p.Tyr739=) c.2128+5793T>C (n.2128+5793T>C) n.2425T>C n.2633T>C c.1842T>C (p.Tyr614=) c.867T>C (p.Tyr289=) c.1581T>C (p.Tyr527=) n.2377T>C n.2585T>C | |
| 1 | g.197427749T>G | CA344037272 | CRB1 | c.2424T>G (p.Tyr808Ter) c.1305T>G (p.Tyr435Ter) c.567T>G (p.Tyr189Ter) c.2088T>G (p.Tyr696Ter) n.325T>G c.2217T>G (p.Tyr739Ter) c.2128+5793T>G (n.2128+5793T>G) n.2425T>G n.2633T>G c.1842T>G (p.Tyr614Ter) c.867T>G (p.Tyr289Ter) c.1581T>G (p.Tyr527Ter) n.2377T>G n.2585T>G | |
| 1 | g.197427750C>A | CA344037275 | CRB1 | c.2425C>A (p.Gln809Lys) c.1306C>A (p.Gln436Lys) c.568C>A (p.Gln190Lys) c.2089C>A (p.Gln697Lys) n.326C>A c.2218C>A (p.Gln740Lys) c.2128+5794C>A (n.2128+5794C>A) n.2426C>A n.2634C>A c.1843C>A (p.Gln615Lys) c.868C>A (p.Gln290Lys) c.1582C>A (p.Gln528Lys) n.2378C>A n.2586C>A | |
| 1 | g.197427750C= | CA1218066245 | CRB1 | c.2425C= (p.Gln809=) c.1306C= (p.Gln436=) c.568C= (p.Gln190=) c.2089C= (p.Gln697=) n.326C= c.2218C= (p.Gln740=) c.2128+5794C= (n.2128+5794C=) n.2426C= n.2634C= c.1843C= (p.Gln615=) c.868C= (p.Gln290=) c.1582C= (p.Gln528=) n.2378C= n.2586C= | |
| 1 | g.197427750C>G | CA344037277 | CRB1 | c.2425C>G (p.Gln809Glu) c.1306C>G (p.Gln436Glu) c.568C>G (p.Gln190Glu) c.2089C>G (p.Gln697Glu) n.326C>G c.2218C>G (p.Gln740Glu) c.2128+5794C>G (n.2128+5794C>G) n.2426C>G n.2634C>G c.1843C>G (p.Gln615Glu) c.868C>G (p.Gln290Glu) c.1582C>G (p.Gln528Glu) n.2378C>G n.2586C>G | |
| 1 | g.197427750C>T | CA344037279 | CRB1 | c.2425C>T (p.Gln809Ter) c.1306C>T (p.Gln436Ter) c.568C>T (p.Gln190Ter) c.2089C>T (p.Gln697Ter) n.326C>T c.2218C>T (p.Gln740Ter) c.2128+5794C>T (n.2128+5794C>T) n.2426C>T n.2634C>T c.1843C>T (p.Gln615Ter) c.868C>T (p.Gln290Ter) c.1582C>T (p.Gln528Ter) n.2378C>T n.2586C>T | ClinVar dbSNP |
| 1 | g.197427750_197427751del | CA2649670119 | CRB1 | c.2425_2426del (p.Gln809ValfsTer28) c.1306_1307del (p.Gln436ValfsTer28) c.568_569del (p.Gln190ValfsTer28) c.2089_2090del (p.Gln697ValfsTer28) n.326_327del c.2218_2219del (p.Gln740ValfsTer28) c.2128+5794_2128+5795del (n.2128+5794_2128+5795del) n.2426_2427del n.2634_2635del c.1843_1844del (p.Gln615ValfsTer28) c.868_869del (p.Gln290ValfsTer28) c.1582_1583del (p.Gln528ValfsTer28) n.2378_2379del n.2586_2587del | gnomAD v4 |
| 1 | g.197427751A= | CA1218066247 | CRB1 | c.2426A= (p.Gln809=) c.1307A= (p.Gln436=) c.569A= (p.Gln190=) c.2090A= (p.Gln697=) n.327A= c.2219A= (p.Gln740=) c.2128+5795A= (n.2128+5795A=) n.2427A= n.2635A= c.1844A= (p.Gln615=) c.869A= (p.Gln290=) c.1583A= (p.Gln528=) n.2379A= n.2587A= | |
| 1 | g.197427751A>C | CA344037282 | CRB1 | c.2426A>C (p.Gln809Pro) c.1307A>C (p.Gln436Pro) c.569A>C (p.Gln190Pro) c.2090A>C (p.Gln697Pro) n.327A>C c.2219A>C (p.Gln740Pro) c.2128+5795A>C (n.2128+5795A>C) n.2427A>C n.2635A>C c.1844A>C (p.Gln615Pro) c.869A>C (p.Gln290Pro) c.1583A>C (p.Gln528Pro) n.2379A>C n.2587A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427751A>G | CA344037284 | CRB1 | c.2426A>G (p.Gln809Arg) c.1307A>G (p.Gln436Arg) c.569A>G (p.Gln190Arg) c.2090A>G (p.Gln697Arg) n.327A>G c.2219A>G (p.Gln740Arg) c.2128+5795A>G (n.2128+5795A>G) n.2427A>G n.2635A>G c.1844A>G (p.Gln615Arg) c.869A>G (p.Gln290Arg) c.1583A>G (p.Gln528Arg) n.2379A>G n.2587A>G | ClinVar gnomAD v4 |
| 1 | g.197427751A>T | CA344037286 | CRB1 | c.2426A>T (p.Gln809Leu) c.1307A>T (p.Gln436Leu) c.569A>T (p.Gln190Leu) c.2090A>T (p.Gln697Leu) n.327A>T c.2219A>T (p.Gln740Leu) c.2128+5795A>T (n.2128+5795A>T) n.2427A>T n.2635A>T c.1844A>T (p.Gln615Leu) c.869A>T (p.Gln290Leu) c.1583A>T (p.Gln528Leu) n.2379A>T n.2587A>T | |
| 1 | g.197427752G>A | CA422808735 | CRB1 | c.2427G>A (p.Gln809=) c.1308G>A (p.Gln436=) c.570G>A (p.Gln190=) c.2091G>A (p.Gln697=) n.328G>A c.2220G>A (p.Gln740=) c.2128+5796G>A (n.2128+5796G>A) n.2428G>A n.2636G>A c.1845G>A (p.Gln615=) c.870G>A (p.Gln290=) c.1584G>A (p.Gln528=) n.2380G>A n.2588G>A | dbSNP |
| 1 | g.197427752G>C | CA344037289 | CRB1 | c.2427G>C (p.Gln809His) c.1308G>C (p.Gln436His) c.570G>C (p.Gln190His) c.2091G>C (p.Gln697His) n.328G>C c.2220G>C (p.Gln740His) c.2128+5796G>C (n.2128+5796G>C) n.2428G>C n.2636G>C c.1845G>C (p.Gln615His) c.870G>C (p.Gln290His) c.1584G>C (p.Gln528His) n.2380G>C n.2588G>C | |
| 1 | g.197427752G= | CA1218066249 | CRB1 | c.2427G= (p.Gln809=) c.1308G= (p.Gln436=) c.570G= (p.Gln190=) c.2091G= (p.Gln697=) n.328G= c.2220G= (p.Gln740=) c.2128+5796G= (n.2128+5796G=) n.2428G= n.2636G= c.1845G= (p.Gln615=) c.870G= (p.Gln290=) c.1584G= (p.Gln528=) n.2380G= n.2588G= | |
| 1 | g.197427752G>T | CA344037291 | CRB1 | c.2427G>T (p.Gln809His) c.1308G>T (p.Gln436His) c.570G>T (p.Gln190His) c.2091G>T (p.Gln697His) n.328G>T c.2220G>T (p.Gln740His) c.2128+5796G>T (n.2128+5796G>T) n.2428G>T n.2636G>T c.1845G>T (p.Gln615His) c.870G>T (p.Gln290His) c.1584G>T (p.Gln528His) n.2380G>T n.2588G>T | dbSNP gnomAD v2 |
| 1 | g.197427753T>A | CA344037293 | CRB1 | c.2428T>A (p.Ser810Thr) c.1309T>A (p.Ser437Thr) c.571T>A (p.Ser191Thr) c.2092T>A (p.Ser698Thr) n.329T>A c.2221T>A (p.Ser741Thr) c.2128+5797T>A (n.2128+5797T>A) n.2429T>A n.2637T>A c.1846T>A (p.Ser616Thr) c.871T>A (p.Ser291Thr) c.1585T>A (p.Ser529Thr) n.2381T>A n.2589T>A | |
| 1 | g.197427753T>C | CA344037296 | CRB1 | c.2428T>C (p.Ser810Pro) c.1309T>C (p.Ser437Pro) c.571T>C (p.Ser191Pro) c.2092T>C (p.Ser698Pro) n.329T>C c.2221T>C (p.Ser741Pro) c.2128+5797T>C (n.2128+5797T>C) n.2429T>C n.2637T>C c.1846T>C (p.Ser616Pro) c.871T>C (p.Ser291Pro) c.1585T>C (p.Ser529Pro) n.2381T>C n.2589T>C | |
| 1 | g.197427753T>G | CA344037298 | CRB1 | c.2428T>G (p.Ser810Ala) c.1309T>G (p.Ser437Ala) c.571T>G (p.Ser191Ala) c.2092T>G (p.Ser698Ala) n.329T>G c.2221T>G (p.Ser741Ala) c.2128+5797T>G (n.2128+5797T>G) n.2429T>G n.2637T>G c.1846T>G (p.Ser616Ala) c.871T>G (p.Ser291Ala) c.1585T>G (p.Ser529Ala) n.2381T>G n.2589T>G | |
| 1 | g.197427754C>A | CA344037307 | CRB1 | c.2429C>A (p.Ser810Tyr) c.1310C>A (p.Ser437Tyr) c.572C>A (p.Ser191Tyr) c.2093C>A (p.Ser698Tyr) n.330C>A c.2222C>A (p.Ser741Tyr) c.2128+5798C>A (n.2128+5798C>A) n.2430C>A n.2638C>A c.1847C>A (p.Ser616Tyr) c.872C>A (p.Ser291Tyr) c.1586C>A (p.Ser529Tyr) n.2382C>A n.2590C>A | |
| 1 | g.197427754C>G | CA344037310 | CRB1 | c.2429C>G (p.Ser810Cys) c.1310C>G (p.Ser437Cys) c.572C>G (p.Ser191Cys) c.2093C>G (p.Ser698Cys) n.330C>G c.2222C>G (p.Ser741Cys) c.2128+5798C>G (n.2128+5798C>G) n.2430C>G n.2638C>G c.1847C>G (p.Ser616Cys) c.872C>G (p.Ser291Cys) c.1586C>G (p.Ser529Cys) n.2382C>G n.2590C>G | gnomAD v4 |
| 1 | g.197427754C>T | CA344037305 | CRB1 | c.2429C>T (p.Ser810Phe) c.1310C>T (p.Ser437Phe) c.572C>T (p.Ser191Phe) c.2093C>T (p.Ser698Phe) n.330C>T c.2222C>T (p.Ser741Phe) c.2128+5798C>T (n.2128+5798C>T) n.2430C>T n.2638C>T c.1847C>T (p.Ser616Phe) c.872C>T (p.Ser291Phe) c.1586C>T (p.Ser529Phe) n.2382C>T n.2590C>T | gnomAD v4 |
| 1 | g.197427755T>A | CA422808737 | CRB1 | c.2430T>A (p.Ser810=) c.1311T>A (p.Ser437=) c.573T>A (p.Ser191=) c.2094T>A (p.Ser698=) n.331T>A c.2223T>A (p.Ser741=) c.2128+5799T>A (n.2128+5799T>A) n.2431T>A n.2639T>A c.1848T>A (p.Ser616=) c.873T>A (p.Ser291=) c.1587T>A (p.Ser529=) n.2383T>A n.2591T>A | |
| 1 | g.197427755T>C | CA422808738 | CRB1 | c.2430T>C (p.Ser810=) c.1311T>C (p.Ser437=) c.573T>C (p.Ser191=) c.2094T>C (p.Ser698=) n.331T>C c.2223T>C (p.Ser741=) c.2128+5799T>C (n.2128+5799T>C) n.2431T>C n.2639T>C c.1848T>C (p.Ser616=) c.873T>C (p.Ser291=) c.1587T>C (p.Ser529=) n.2383T>C n.2591T>C | |
| 1 | g.197427755T>G | CA422808739 | CRB1 | c.2430T>G (p.Ser810=) c.1311T>G (p.Ser437=) c.573T>G (p.Ser191=) c.2094T>G (p.Ser698=) n.331T>G c.2223T>G (p.Ser741=) c.2128+5799T>G (n.2128+5799T>G) n.2431T>G n.2639T>G c.1848T>G (p.Ser616=) c.873T>G (p.Ser291=) c.1587T>G (p.Ser529=) n.2383T>G n.2591T>G | |
| 1 | g.197427756T>A | CA344037315 | CRB1 | c.2431T>A (p.Ser811Thr) c.1312T>A (p.Ser438Thr) c.574T>A (p.Ser192Thr) c.2095T>A (p.Ser699Thr) n.332T>A c.2224T>A (p.Ser742Thr) c.2128+5800T>A (n.2128+5800T>A) n.2432T>A n.2640T>A c.1849T>A (p.Ser617Thr) c.874T>A (p.Ser292Thr) c.1588T>A (p.Ser530Thr) n.2384T>A n.2592T>A | |
| 1 | g.197427756T>C | CA344037313 | CRB1 | c.2431T>C (p.Ser811Pro) c.1312T>C (p.Ser438Pro) c.574T>C (p.Ser192Pro) c.2095T>C (p.Ser699Pro) n.332T>C c.2224T>C (p.Ser742Pro) c.2128+5800T>C (n.2128+5800T>C) n.2432T>C n.2640T>C c.1849T>C (p.Ser617Pro) c.874T>C (p.Ser292Pro) c.1588T>C (p.Ser530Pro) n.2384T>C n.2592T>C | gnomAD v4 |
| 1 | g.197427756T>G | CA344037318 | CRB1 | c.2431T>G (p.Ser811Ala) c.1312T>G (p.Ser438Ala) c.574T>G (p.Ser192Ala) c.2095T>G (p.Ser699Ala) n.332T>G c.2224T>G (p.Ser742Ala) c.2128+5800T>G (n.2128+5800T>G) n.2432T>G n.2640T>G c.1849T>G (p.Ser617Ala) c.874T>G (p.Ser292Ala) c.1588T>G (p.Ser530Ala) n.2384T>G n.2592T>G | |
| 1 | g.197427757C>A | CA344037320 | CRB1 | c.2432C>A (p.Ser811Ter) c.1313C>A (p.Ser438Ter) c.575C>A (p.Ser192Ter) c.2096C>A (p.Ser699Ter) n.333C>A c.2225C>A (p.Ser742Ter) c.2128+5801C>A (n.2128+5801C>A) n.2433C>A n.2641C>A c.1850C>A (p.Ser617Ter) c.875C>A (p.Ser292Ter) c.1589C>A (p.Ser530Ter) n.2385C>A n.2593C>A | |
| 1 | g.197427757C>G | CA344037325 | CRB1 | c.2432C>G (p.Ser811Ter) c.1313C>G (p.Ser438Ter) c.575C>G (p.Ser192Ter) c.2096C>G (p.Ser699Ter) n.333C>G c.2225C>G (p.Ser742Ter) c.2128+5801C>G (n.2128+5801C>G) n.2433C>G n.2641C>G c.1850C>G (p.Ser617Ter) c.875C>G (p.Ser292Ter) c.1589C>G (p.Ser530Ter) n.2385C>G n.2593C>G | |
| 1 | g.197427757C>T | CA344037322 | CRB1 | c.2432C>T (p.Ser811Leu) c.1313C>T (p.Ser438Leu) c.575C>T (p.Ser192Leu) c.2096C>T (p.Ser699Leu) n.333C>T c.2225C>T (p.Ser742Leu) c.2128+5801C>T (n.2128+5801C>T) n.2433C>T n.2641C>T c.1850C>T (p.Ser617Leu) c.875C>T (p.Ser292Leu) c.1589C>T (p.Ser530Leu) n.2385C>T n.2593C>T | |
| 1 | g.197427758A>C | CA422808740 | CRB1 | c.2433A>C (p.Ser811=) c.1314A>C (p.Ser438=) c.576A>C (p.Ser192=) c.2097A>C (p.Ser699=) n.334A>C c.2226A>C (p.Ser742=) c.2128+5802A>C (n.2128+5802A>C) n.2434A>C n.2642A>C c.1851A>C (p.Ser617=) c.876A>C (p.Ser292=) c.1590A>C (p.Ser530=) n.2386A>C n.2594A>C | |
| 1 | g.197427758A>G | CA422808741 | CRB1 | c.2433A>G (p.Ser811=) c.1314A>G (p.Ser438=) c.576A>G (p.Ser192=) c.2097A>G (p.Ser699=) n.334A>G c.2226A>G (p.Ser742=) c.2128+5802A>G (n.2128+5802A>G) n.2434A>G n.2642A>G c.1851A>G (p.Ser617=) c.876A>G (p.Ser292=) c.1590A>G (p.Ser530=) n.2386A>G n.2594A>G | ClinVar dbSNP |
| 1 | g.197427758A>T | CA422808742 | CRB1 | c.2433A>T (p.Ser811=) c.1314A>T (p.Ser438=) c.576A>T (p.Ser192=) c.2097A>T (p.Ser699=) n.334A>T c.2226A>T (p.Ser742=) c.2128+5802A>T (n.2128+5802A>T) n.2434A>T n.2642A>T c.1851A>T (p.Ser617=) c.876A>T (p.Ser292=) c.1590A>T (p.Ser530=) n.2386A>T n.2594A>T | |
| 1 | g.197427759C>A | CA344037327 | CRB1 | c.2434C>A (p.Gln812Lys) c.1315C>A (p.Gln439Lys) c.577C>A (p.Gln193Lys) c.2098C>A (p.Gln700Lys) n.335C>A c.2227C>A (p.Gln743Lys) c.2128+5803C>A (n.2128+5803C>A) n.2435C>A n.2643C>A c.1852C>A (p.Gln618Lys) c.877C>A (p.Gln293Lys) c.1591C>A (p.Gln531Lys) n.2387C>A n.2595C>A | |
| 1 | g.197427759C= | CA1218066251 | CRB1 | c.2434C= (p.Gln812=) c.1315C= (p.Gln439=) c.577C= (p.Gln193=) c.2098C= (p.Gln700=) n.335C= c.2227C= (p.Gln743=) c.2128+5803C= (n.2128+5803C=) n.2435C= n.2643C= c.1852C= (p.Gln618=) c.877C= (p.Gln293=) c.1591C= (p.Gln531=) n.2387C= n.2595C= | |
| 1 | g.197427759C>G | CA344037331 | CRB1 | c.2434C>G (p.Gln812Glu) c.1315C>G (p.Gln439Glu) c.577C>G (p.Gln193Glu) c.2098C>G (p.Gln700Glu) n.335C>G c.2227C>G (p.Gln743Glu) c.2128+5803C>G (n.2128+5803C>G) n.2435C>G n.2643C>G c.1852C>G (p.Gln618Glu) c.877C>G (p.Gln293Glu) c.1591C>G (p.Gln531Glu) n.2387C>G n.2595C>G | |
| 1 | g.197427759C>T | CA344037329 | CRB1 | c.2434C>T (p.Gln812Ter) c.1315C>T (p.Gln439Ter) c.577C>T (p.Gln193Ter) c.2098C>T (p.Gln700Ter) n.335C>T c.2227C>T (p.Gln743Ter) c.2128+5803C>T (n.2128+5803C>T) n.2435C>T n.2643C>T c.1852C>T (p.Gln618Ter) c.877C>T (p.Gln293Ter) c.1591C>T (p.Gln531Ter) n.2387C>T n.2595C>T | |
| 1 | g.197427760A= | CA1218066253 | CRB1 | c.2435A= (p.Gln812=) c.1316A= (p.Gln439=) c.578A= (p.Gln193=) c.2099A= (p.Gln700=) n.336A= c.2228A= (p.Gln743=) c.2128+5804A= (n.2128+5804A=) n.2436A= n.2644A= c.1853A= (p.Gln618=) c.878A= (p.Gln293=) c.1592A= (p.Gln531=) n.2388A= n.2596A= | |
| 1 | g.197427760A>C | CA344037333 | CRB1 | c.2435A>C (p.Gln812Pro) c.1316A>C (p.Gln439Pro) c.578A>C (p.Gln193Pro) c.2099A>C (p.Gln700Pro) n.336A>C c.2228A>C (p.Gln743Pro) c.2128+5804A>C (n.2128+5804A>C) n.2436A>C n.2644A>C c.1853A>C (p.Gln618Pro) c.878A>C (p.Gln293Pro) c.1592A>C (p.Gln531Pro) n.2388A>C n.2596A>C | |
| 1 | g.197427760A>G | CA35900854 | CRB1 | c.2435A>G (p.Gln812Arg) c.1316A>G (p.Gln439Arg) c.578A>G (p.Gln193Arg) c.2099A>G (p.Gln700Arg) n.336A>G c.2228A>G (p.Gln743Arg) c.2128+5804A>G (n.2128+5804A>G) n.2436A>G n.2644A>G c.1853A>G (p.Gln618Arg) c.878A>G (p.Gln293Arg) c.1592A>G (p.Gln531Arg) n.2388A>G n.2596A>G | dbSNP gnomAD v4 |
| 1 | g.197427760A>T | CA344037334 | CRB1 | c.2435A>T (p.Gln812Leu) c.1316A>T (p.Gln439Leu) c.578A>T (p.Gln193Leu) c.2099A>T (p.Gln700Leu) n.336A>T c.2228A>T (p.Gln743Leu) c.2128+5804A>T (n.2128+5804A>T) n.2436A>T n.2644A>T c.1853A>T (p.Gln618Leu) c.878A>T (p.Gln293Leu) c.1592A>T (p.Gln531Leu) n.2388A>T n.2596A>T | COSMIC |
| 1 | g.197427763dup | CA1218066255 | CRB1 | c.2438dup (p.Asn813LysfsTer25) c.1319dup (p.Asn440LysfsTer25) c.581dup (p.Asn194LysfsTer25) c.2102dup (p.Asn701LysfsTer25) n.339dup c.2231dup (p.Asn744LysfsTer25) c.2128+5807dup (n.2128+5807dup) n.2439dup n.2647dup c.1856dup (p.Asn619LysfsTer25) c.881dup (p.Asn294LysfsTer25) c.1595dup (p.Asn532LysfsTer25) n.2391dup n.2599dup | dbSNP |
| 1 | g.197427761A>C | CA344037336 | CRB1 | c.2436A>C (p.Gln812His) c.1317A>C (p.Gln439His) c.579A>C (p.Gln193His) c.2100A>C (p.Gln700His) n.337A>C c.2229A>C (p.Gln743His) c.2128+5805A>C (n.2128+5805A>C) n.2437A>C n.2645A>C c.1854A>C (p.Gln618His) c.879A>C (p.Gln293His) c.1593A>C (p.Gln531His) n.2389A>C n.2597A>C | gnomAD v4 |
| 1 | g.197427761A>G | CA422808747 | CRB1 | c.2436A>G (p.Gln812=) c.1317A>G (p.Gln439=) c.579A>G (p.Gln193=) c.2100A>G (p.Gln700=) n.337A>G c.2229A>G (p.Gln743=) c.2128+5805A>G (n.2128+5805A>G) n.2437A>G n.2645A>G c.1854A>G (p.Gln618=) c.879A>G (p.Gln293=) c.1593A>G (p.Gln531=) n.2389A>G n.2597A>G | |
| 1 | g.197427761A>T | CA344037337 | CRB1 | c.2436A>T (p.Gln812His) c.1317A>T (p.Gln439His) c.579A>T (p.Gln193His) c.2100A>T (p.Gln700His) n.337A>T c.2229A>T (p.Gln743His) c.2128+5805A>T (n.2128+5805A>T) n.2437A>T n.2645A>T c.1854A>T (p.Gln618His) c.879A>T (p.Gln293His) c.1593A>T (p.Gln531His) n.2389A>T n.2597A>T |