Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197427650_197427657delinsGACTCCAACA1218066129CRB1c.2325_2332delinsGACTCCAA (p.Leu775=)
c.1206_1213delinsGACTCCAA (p.Leu402=)
c.468_475delinsGACTCCAA (p.Leu156=)
c.1989_1996delinsGACTCCAA (p.Leu663=)
n.226_233delinsGACTCCAA
c.2118_2125delinsGACTCCAA (p.Leu706=)
c.2128+5694_2128+5701delinsGACTCCAA (n.2128+5694_2128+5701delinsGACTCCAA)
n.2326_2333delinsGACTCCAA
n.2534_2541delinsGACTCCAA
c.1743_1750delinsGACTCCAA (p.Leu581=)
c.768_775delinsGACTCCAA (p.Leu256=)
c.1482_1489delinsGACTCCAA (p.Leu494=)
n.2278_2285delinsGACTCCAA
n.2486_2493delinsGACTCCAA
1g.197427655_197427661delCA236376CRB1c.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
1g.197427655C>ACA344036984CRB1c.2330C>A (p.Pro777Gln)
c.1211C>A (p.Pro404Gln)
c.473C>A (p.Pro158Gln)
c.1994C>A (p.Pro665Gln)
n.231C>A
c.2123C>A (p.Pro708Gln)
c.2128+5699C>A (n.2128+5699C>A)
n.2331C>A
n.2539C>A
c.1748C>A (p.Pro583Gln)
c.773C>A (p.Pro258Gln)
c.1487C>A (p.Pro496Gln)
n.2283C>A
n.2491C>A
1g.197427655C=CA1218066139CRB1c.2330C= (p.Pro777=)
c.1211C= (p.Pro404=)
c.473C= (p.Pro158=)
c.1994C= (p.Pro665=)
n.231C=
c.2123C= (p.Pro708=)
c.2128+5699C= (n.2128+5699C=)
n.2331C=
n.2539C=
c.1748C= (p.Pro583=)
c.773C= (p.Pro258=)
c.1487C= (p.Pro496=)
n.2283C=
n.2491C=
1g.197427655C>GCA344036985CRB1c.2330C>G (p.Pro777Arg)
c.1211C>G (p.Pro404Arg)
c.473C>G (p.Pro158Arg)
c.1994C>G (p.Pro665Arg)
n.231C>G
c.2123C>G (p.Pro708Arg)
c.2128+5699C>G (n.2128+5699C>G)
n.2331C>G
n.2539C>G
c.1748C>G (p.Pro583Arg)
c.773C>G (p.Pro258Arg)
c.1487C>G (p.Pro496Arg)
n.2283C>G
n.2491C>G
1g.197427655C>TCA10609329CRB1c.2330C>T (p.Pro777Leu)
c.1211C>T (p.Pro404Leu)
c.473C>T (p.Pro158Leu)
c.1994C>T (p.Pro665Leu)
n.231C>T
c.2123C>T (p.Pro708Leu)
c.2128+5699C>T (n.2128+5699C>T)
n.2331C>T
n.2539C>T
c.1748C>T (p.Pro583Leu)
c.773C>T (p.Pro258Leu)
c.1487C>T (p.Pro496Leu)
n.2283C>T
n.2491C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427656A>CCA422809168CRB1c.2331A>C (p.Pro777=)
c.1212A>C (p.Pro404=)
c.474A>C (p.Pro158=)
c.1995A>C (p.Pro665=)
n.232A>C
c.2124A>C (p.Pro708=)
c.2128+5700A>C (n.2128+5700A>C)
n.2332A>C
n.2540A>C
c.1749A>C (p.Pro583=)
c.774A>C (p.Pro258=)
c.1488A>C (p.Pro496=)
n.2284A>C
n.2492A>C
1g.197427656A>GCA422809170CRB1c.2331A>G (p.Pro777=)
c.1212A>G (p.Pro404=)
c.474A>G (p.Pro158=)
c.1995A>G (p.Pro665=)
n.232A>G
c.2124A>G (p.Pro708=)
c.2128+5700A>G (n.2128+5700A>G)
n.2332A>G
n.2540A>G
c.1749A>G (p.Pro583=)
c.774A>G (p.Pro258=)
c.1488A>G (p.Pro496=)
n.2284A>G
n.2492A>G
1g.197427656A>TCA422809172CRB1c.2331A>T (p.Pro777=)
c.1212A>T (p.Pro404=)
c.474A>T (p.Pro158=)
c.1995A>T (p.Pro665=)
n.232A>T
c.2124A>T (p.Pro708=)
c.2128+5700A>T (n.2128+5700A>T)
n.2332A>T
n.2540A>T
c.1749A>T (p.Pro583=)
c.774A>T (p.Pro258=)
c.1488A>T (p.Pro496=)
n.2284A>T
n.2492A>T
1g.197427657A=CA1142382299CRB1c.2332A= (p.Asn778=)
c.1213A= (p.Asn405=)
c.475A= (p.Asn159=)
c.1996A= (p.Asn666=)
n.233A=
c.2125A= (p.Asn709=)
c.2128+5701A= (n.2128+5701A=)
n.2333A=
n.2541A=
c.1750A= (p.Asn584=)
c.775A= (p.Asn259=)
c.1489A= (p.Asn497=)
n.2285A=
n.2493A=
1g.197427657A>CCA344036986CRB1c.2332A>C (p.Asn778His)
c.1213A>C (p.Asn405His)
c.475A>C (p.Asn159His)
c.1996A>C (p.Asn666His)
n.233A>C
c.2125A>C (p.Asn709His)
c.2128+5701A>C (n.2128+5701A>C)
n.2333A>C
n.2541A>C
c.1750A>C (p.Asn584His)
c.775A>C (p.Asn259His)
c.1489A>C (p.Asn497His)
n.2285A>C
n.2493A>C
1g.197427657A>GCA1312103CRB1c.2332A>G (p.Asn778Asp)
c.1213A>G (p.Asn405Asp)
c.475A>G (p.Asn159Asp)
c.1996A>G (p.Asn666Asp)
n.233A>G
c.2125A>G (p.Asn709Asp)
c.2128+5701A>G (n.2128+5701A>G)
n.2333A>G
n.2541A>G
c.1750A>G (p.Asn584Asp)
c.775A>G (p.Asn259Asp)
c.1489A>G (p.Asn497Asp)
n.2285A>G
n.2493A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427657A>TCA35900696CRB1c.2332A>T (p.Asn778Tyr)
c.1213A>T (p.Asn405Tyr)
c.475A>T (p.Asn159Tyr)
c.1996A>T (p.Asn666Tyr)
n.233A>T
c.2125A>T (p.Asn709Tyr)
c.2128+5701A>T (n.2128+5701A>T)
n.2333A>T
n.2541A>T
c.1750A>T (p.Asn584Tyr)
c.775A>T (p.Asn259Tyr)
c.1489A>T (p.Asn497Tyr)
n.2285A>T
n.2493A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427658A=CA1218066144CRB1c.2333A= (p.Asn778=)
c.1214A= (p.Asn405=)
c.476A= (p.Asn159=)
c.1997A= (p.Asn666=)
n.234A=
c.2126A= (p.Asn709=)
c.2128+5702A= (n.2128+5702A=)
n.2334A=
n.2542A=
c.1751A= (p.Asn584=)
c.776A= (p.Asn259=)
c.1490A= (p.Asn497=)
n.2286A=
n.2494A=
1g.197427658A>CCA344036987CRB1c.2333A>C (p.Asn778Thr)
c.1214A>C (p.Asn405Thr)
c.476A>C (p.Asn159Thr)
c.1997A>C (p.Asn666Thr)
n.234A>C
c.2126A>C (p.Asn709Thr)
c.2128+5702A>C (n.2128+5702A>C)
n.2334A>C
n.2542A>C
c.1751A>C (p.Asn584Thr)
c.776A>C (p.Asn259Thr)
c.1490A>C (p.Asn497Thr)
n.2286A>C
n.2494A>C
1g.197427658A>GCA344036988CRB1c.2333A>G (p.Asn778Ser)
c.1214A>G (p.Asn405Ser)
c.476A>G (p.Asn159Ser)
c.1997A>G (p.Asn666Ser)
n.234A>G
c.2126A>G (p.Asn709Ser)
c.2128+5702A>G (n.2128+5702A>G)
n.2334A>G
n.2542A>G
c.1751A>G (p.Asn584Ser)
c.776A>G (p.Asn259Ser)
c.1490A>G (p.Asn497Ser)
n.2286A>G
n.2494A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197427658A>TCA344036989CRB1c.2333A>T (p.Asn778Ile)
c.1214A>T (p.Asn405Ile)
c.476A>T (p.Asn159Ile)
c.1997A>T (p.Asn666Ile)
n.234A>T
c.2126A>T (p.Asn709Ile)
c.2128+5702A>T (n.2128+5702A>T)
n.2334A>T
n.2542A>T
c.1751A>T (p.Asn584Ile)
c.776A>T (p.Asn259Ile)
c.1490A>T (p.Asn497Ile)
n.2286A>T
n.2494A>T
 gnomAD v4
1g.197427659C>ACA344036990CRB1c.2334C>A (p.Asn778Lys)
c.1215C>A (p.Asn405Lys)
c.477C>A (p.Asn159Lys)
c.1998C>A (p.Asn666Lys)
n.235C>A
c.2127C>A (p.Asn709Lys)
c.2128+5703C>A (n.2128+5703C>A)
n.2335C>A
n.2543C>A
c.1752C>A (p.Asn584Lys)
c.777C>A (p.Asn259Lys)
c.1491C>A (p.Asn497Lys)
n.2287C>A
n.2495C>A
1g.197427659C=CA1218066145CRB1c.2334C= (p.Asn778=)
c.1215C= (p.Asn405=)
c.477C= (p.Asn159=)
c.1998C= (p.Asn666=)
n.235C=
c.2127C= (p.Asn709=)
c.2128+5703C= (n.2128+5703C=)
n.2335C=
n.2543C=
c.1752C= (p.Asn584=)
c.777C= (p.Asn259=)
c.1491C= (p.Asn497=)
n.2287C=
n.2495C=
1g.197427659C>GCA1312104CRB1c.2334C>G (p.Asn778Lys)
c.1215C>G (p.Asn405Lys)
c.477C>G (p.Asn159Lys)
c.1998C>G (p.Asn666Lys)
n.235C>G
c.2127C>G (p.Asn709Lys)
c.2128+5703C>G (n.2128+5703C>G)
n.2335C>G
n.2543C>G
c.1752C>G (p.Asn584Lys)
c.777C>G (p.Asn259Lys)
c.1491C>G (p.Asn497Lys)
n.2287C>G
n.2495C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427659C>TCA422809177CRB1c.2334C>T (p.Asn778=)
c.1215C>T (p.Asn405=)
c.477C>T (p.Asn159=)
c.1998C>T (p.Asn666=)
n.235C>T
c.2127C>T (p.Asn709=)
c.2128+5703C>T (n.2128+5703C>T)
n.2335C>T
n.2543C>T
c.1752C>T (p.Asn584=)
c.777C>T (p.Asn259=)
c.1491C>T (p.Asn497=)
n.2287C>T
n.2495C>T
 ClinVar dbSNP gnomAD v4
1g.197427660T>ACA344036991CRB1c.2335T>A (p.Ser779Thr)
c.1216T>A (p.Ser406Thr)
c.478T>A (p.Ser160Thr)
c.1999T>A (p.Ser667Thr)
n.236T>A
c.2128T>A (p.Ser710Thr)
c.2128+5704T>A (n.2128+5704T>A)
n.2336T>A
n.2544T>A
c.1753T>A (p.Ser585Thr)
c.778T>A (p.Ser260Thr)
c.1492T>A (p.Ser498Thr)
n.2288T>A
n.2496T>A
1g.197427660T>CCA344036992CRB1c.2335T>C (p.Ser779Pro)
c.1216T>C (p.Ser406Pro)
c.478T>C (p.Ser160Pro)
c.1999T>C (p.Ser667Pro)
n.236T>C
c.2128T>C (p.Ser710Pro)
c.2128+5704T>C (n.2128+5704T>C)
n.2336T>C
n.2544T>C
c.1753T>C (p.Ser585Pro)
c.778T>C (p.Ser260Pro)
c.1492T>C (p.Ser498Pro)
n.2288T>C
n.2496T>C
1g.197427660T>GCA344036993CRB1c.2335T>G (p.Ser779Ala)
c.1216T>G (p.Ser406Ala)
c.478T>G (p.Ser160Ala)
c.1999T>G (p.Ser667Ala)
n.236T>G
c.2128T>G (p.Ser710Ala)
c.2128+5704T>G (n.2128+5704T>G)
n.2336T>G
n.2544T>G
c.1753T>G (p.Ser585Ala)
c.778T>G (p.Ser260Ala)
c.1492T>G (p.Ser498Ala)
n.2288T>G
n.2496T>G
1g.197427661C>ACA344036994CRB1c.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
1g.197427661C>GCA344036995CRB1c.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
1g.197427661C>TCA344036996CRB1c.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
1g.197427662T>ACA422809185CRB1c.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
1g.197427662T>CCA35900710CRB1c.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
1g.197427662T>GCA422809188CRB1c.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
1g.197427662T=CA1218066147CRB1c.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=
1g.197427663C>ACA344036997CRB1c.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
1g.197427663C>GCA344036998CRB1c.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
1g.197427663C>TCA344036999CRB1c.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
1g.197427664C>ACA344037000CRB1c.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
1g.197427664C=CA1218066149CRB1c.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=
1g.197427664C>GCA344037001CRB1c.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
1g.197427664C>TCA344037002CRB1c.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
1g.197427664_197427665insAGTCA2747247626CRB1c.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
1g.197427665C>ACA422809195CRB1c.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
1g.197427665C>GCA422809198CRB1c.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
1g.197427665C>TCA422809197CRB1c.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
1g.197427666A>CCA344037003CRB1c.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
1g.197427666A>GCA344037005CRB1c.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
1g.197427666A>TCA344037004CRB1c.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
1g.197427667A>CCA344037006CRB1c.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
1g.197427667A>GCA344037007CRB1c.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
1g.197427667A>TCA344037008CRB1c.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
1g.197427668A=CA1218066153CRB1c.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=
1g.197427668A>CCA344037009CRB1c.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

Number of alleles fetched