Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197427738delCA2586964522CRB1c.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
1g.197427736A>CCA344037206CRB1c.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
1g.197427736A>GCA344037210CRB1c.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
1g.197427736A>TCA344037208CRB1c.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
1g.197427737A>CCA344037213CRB1c.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
1g.197427737A>GCA422808723CRB1c.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
1g.197427737A>TCA344037215CRB1c.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
1g.197427738A=CA1218066221CRB1c.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=
1g.197427738A>CCA344037217CRB1c.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
1g.197427738A>GCA1312119CRB1c.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
1g.197427738A>TCA344037220CRB1c.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
1g.197427739T>ACA344037223CRB1c.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
1g.197427739T>CCA35900834CRB1c.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
1g.197427739T>GCA344037225CRB1c.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
1g.197427739T=CA1141993183CRB1c.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=
1g.197427740T>ACA422808725CRB1c.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
1g.197427740T>CCA422808724CRB1c.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
1g.197427740T>GCA344037228CRB1c.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
1g.197427741G>ACA344037231CRB1c.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
1g.197427741G>CCA1312120CRB1c.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
1g.197427741G=CA1218066228CRB1c.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=
1g.197427741G>TCA344037234CRB1c.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
1g.197427742A>CCA344037236CRB1c.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
1g.197427742A>GCA344037241CRB1c.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
1g.197427742A>TCA344037239CRB1c.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
1g.197427743A=CA1218066230CRB1c.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=
1g.197427743A>CCA344037243CRB1c.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
1g.197427743A>GCA422808728CRB1c.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
1g.197427743A>TCA344037245CRB1c.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
1g.197427744C>ACA344037247CRB1c.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
1g.197427744C=CA1143772734CRB1c.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=
1g.197427744C>GCA344037249CRB1c.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
1g.197427744C>TCA1312121CRB1c.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
1g.197427745T>ACA344037252CRB1c.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
1g.197427745T>CCA344037254CRB1c.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
1g.197427745T>GCA344037255CRB1c.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
1g.197427745T=CA1218066235CRB1c.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=
1g.197427745_197427746insACTAATTTGGGAGAGTTTGCA2571443668CRB1c.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
1g.197427746G>ACA422808729CRB1c.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
1g.197427746G>CCA422808731CRB1c.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
1g.197427746G>TCA422808732CRB1c.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
1g.197427747T>ACA344037258CRB1c.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
1g.197427747T>CCA344037259CRB1c.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
1g.197427747T>GCA344037261CRB1c.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
1g.197427748A=CA1218066242CRB1c.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=
1g.197427748A>CCA344037267CRB1c.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
1g.197427748A>GCA35900848CRB1c.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
1g.197427748A>TCA344037264CRB1c.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
1g.197427748_197427749insCTCA2649670118CRB1c.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
1g.197427749T>ACA344037270CRB1c.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
1g.197427749T>CCA422808734CRB1c.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
1g.197427749T>GCA344037272CRB1c.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
1g.197427750C>ACA344037275CRB1c.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
1g.197427750C=CA1218066245CRB1c.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=
1g.197427750C>GCA344037277CRB1c.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
1g.197427750C>TCA344037279CRB1c.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
1g.197427750_197427751delCA2649670119CRB1c.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
1g.197427751A=CA1218066247CRB1c.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=
1g.197427751A>CCA344037282CRB1c.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
1g.197427751A>GCA344037284CRB1c.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
1g.197427751A>TCA344037286CRB1c.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
1g.197427752G>ACA422808735CRB1c.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
1g.197427752G>CCA344037289CRB1c.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
1g.197427752G=CA1218066249CRB1c.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=
1g.197427752G>TCA344037291CRB1c.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
1g.197427753T>ACA344037293CRB1c.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
1g.197427753T>CCA344037296CRB1c.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
1g.197427753T>GCA344037298CRB1c.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
1g.197427754C>ACA344037307CRB1c.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
1g.197427754C>GCA344037310CRB1c.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
1g.197427754C>TCA344037305CRB1c.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
1g.197427755T>ACA422808737CRB1c.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
1g.197427755T>CCA422808738CRB1c.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
1g.197427755T>GCA422808739CRB1c.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
1g.197427756T>ACA344037315CRB1c.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
1g.197427756T>CCA344037313CRB1c.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
1g.197427756T>GCA344037318CRB1c.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
1g.197427757C>ACA344037320CRB1c.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
1g.197427757C>GCA344037325CRB1c.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
1g.197427757C>TCA344037322CRB1c.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
1g.197427758A>CCA422808740CRB1c.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
1g.197427758A>GCA422808741CRB1c.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
1g.197427758A>TCA422808742CRB1c.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
1g.197427759C>ACA344037327CRB1c.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
1g.197427759C=CA1218066251CRB1c.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=
1g.197427759C>GCA344037331CRB1c.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
1g.197427759C>TCA344037329CRB1c.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
1g.197427760A=CA1218066253CRB1c.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=
1g.197427760A>CCA344037333CRB1c.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
1g.197427760A>GCA35900854CRB1c.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
1g.197427760A>TCA344037334CRB1c.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
1g.197427763dupCA1218066255CRB1c.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
1g.197427761A>CCA344037336CRB1c.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
1g.197427761A>GCA422808747CRB1c.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
1g.197427761A>TCA344037337CRB1c.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
1g.197427762A>CCA344037340CRB1c.2437A>C (p.Asn813His)
c.1318A>C (p.Asn440His)
c.580A>C (p.Asn194His)
c.2101A>C (p.Asn701His)
n.338A>C
c.2230A>C (p.Asn744His)
c.2128+5806A>C (n.2128+5806A>C)
n.2438A>C
n.2646A>C
c.1855A>C (p.Asn619His)
c.880A>C (p.Asn294His)
c.1594A>C (p.Asn532His)
n.2390A>C
n.2598A>C
1g.197427762A>GCA344037342CRB1c.2437A>G (p.Asn813Asp)
c.1318A>G (p.Asn440Asp)
c.580A>G (p.Asn194Asp)
c.2101A>G (p.Asn701Asp)
n.338A>G
c.2230A>G (p.Asn744Asp)
c.2128+5806A>G (n.2128+5806A>G)
n.2438A>G
n.2646A>G
c.1855A>G (p.Asn619Asp)
c.880A>G (p.Asn294Asp)
c.1594A>G (p.Asn532Asp)
n.2390A>G
n.2598A>G
1g.197427762A>TCA344037344CRB1c.2437A>T (p.Asn813Tyr)
c.1318A>T (p.Asn440Tyr)
c.580A>T (p.Asn194Tyr)
c.2101A>T (p.Asn701Tyr)
n.338A>T
c.2230A>T (p.Asn744Tyr)
c.2128+5806A>T (n.2128+5806A>T)
n.2438A>T
n.2646A>T
c.1855A>T (p.Asn619Tyr)
c.880A>T (p.Asn294Tyr)
c.1594A>T (p.Asn532Tyr)
n.2390A>T
n.2598A>T
1g.197427763A>CCA344037348CRB1c.2438A>C (p.Asn813Thr)
c.1319A>C (p.Asn440Thr)
c.581A>C (p.Asn194Thr)
c.2102A>C (p.Asn701Thr)
n.339A>C
c.2231A>C (p.Asn744Thr)
c.2128+5807A>C (n.2128+5807A>C)
n.2439A>C
n.2647A>C
c.1856A>C (p.Asn619Thr)
c.881A>C (p.Asn294Thr)
c.1595A>C (p.Asn532Thr)
n.2391A>C
n.2599A>C
1g.197427763A>GCA344037350CRB1c.2438A>G (p.Asn813Ser)
c.1319A>G (p.Asn440Ser)
c.581A>G (p.Asn194Ser)
c.2102A>G (p.Asn701Ser)
n.339A>G
c.2231A>G (p.Asn744Ser)
c.2128+5807A>G (n.2128+5807A>G)
n.2439A>G
n.2647A>G
c.1856A>G (p.Asn619Ser)
c.881A>G (p.Asn294Ser)
c.1595A>G (p.Asn532Ser)
n.2391A>G
n.2599A>G
1g.197427763A>TCA344037352CRB1c.2438A>T (p.Asn813Ile)
c.1319A>T (p.Asn440Ile)
c.581A>T (p.Asn194Ile)
c.2102A>T (p.Asn701Ile)
n.339A>T
c.2231A>T (p.Asn744Ile)
c.2128+5807A>T (n.2128+5807A>T)
n.2439A>T
n.2647A>T
c.1856A>T (p.Asn619Ile)
c.881A>T (p.Asn294Ile)
c.1595A>T (p.Asn532Ile)
n.2391A>T
n.2599A>T
1g.197427764C>ACA344037356CRB1c.2439C>A (p.Asn813Lys)
c.1320C>A (p.Asn440Lys)
c.582C>A (p.Asn194Lys)
c.2103C>A (p.Asn701Lys)
n.340C>A
c.2232C>A (p.Asn744Lys)
c.2128+5808C>A (n.2128+5808C>A)
n.2440C>A
n.2648C>A
c.1857C>A (p.Asn619Lys)
c.882C>A (p.Asn294Lys)
c.1596C>A (p.Asn532Lys)
n.2392C>A
n.2600C>A
1g.197427764C>GCA344037354CRB1c.2439C>G (p.Asn813Lys)
c.1320C>G (p.Asn440Lys)
c.582C>G (p.Asn194Lys)
c.2103C>G (p.Asn701Lys)
n.340C>G
c.2232C>G (p.Asn744Lys)
c.2128+5808C>G (n.2128+5808C>G)
n.2440C>G
n.2648C>G
c.1857C>G (p.Asn619Lys)
c.882C>G (p.Asn294Lys)
c.1596C>G (p.Asn532Lys)
n.2392C>G
n.2600C>G
1g.197427764C>TCA422808748CRB1c.2439C>T (p.Asn813=)
c.1320C>T (p.Asn440=)
c.582C>T (p.Asn194=)
c.2103C>T (p.Asn701=)
n.340C>T
c.2232C>T (p.Asn744=)
c.2128+5808C>T (n.2128+5808C>T)
n.2440C>T
n.2648C>T
c.1857C>T (p.Asn619=)
c.882C>T (p.Asn294=)
c.1596C>T (p.Asn532=)
n.2392C>T
n.2600C>T
1g.197427765delCA2649670120CRB1c.2440del (p.Leu814Ter)
c.1321del (p.Leu441Ter)
c.583del (p.Leu195Ter)
c.2104del (p.Leu702Ter)
n.341del
c.2233del (p.Leu745Ter)
c.2128+5809del (n.2128+5809del)
n.2441del
n.2649del
c.1858del (p.Leu620Ter)
c.883del (p.Leu295Ter)
c.1597del (p.Leu533Ter)
n.2393del
n.2601del
 gnomAD v4
1g.197427765C>ACA344037360CRB1c.2440C>A (p.Leu814Ile)
c.1321C>A (p.Leu441Ile)
c.583C>A (p.Leu195Ile)
c.2104C>A (p.Leu702Ile)
n.341C>A
c.2233C>A (p.Leu745Ile)
c.2128+5809C>A (n.2128+5809C>A)
n.2441C>A
n.2649C>A
c.1858C>A (p.Leu620Ile)
c.883C>A (p.Leu295Ile)
c.1597C>A (p.Leu533Ile)
n.2393C>A
n.2601C>A
1g.197427765C=CA1218066256CRB1c.2440C= (p.Leu814=)
c.1321C= (p.Leu441=)
c.583C= (p.Leu195=)
c.2104C= (p.Leu702=)
n.341C=
c.2233C= (p.Leu745=)
c.2128+5809C= (n.2128+5809C=)
n.2441C=
n.2649C=
c.1858C= (p.Leu620=)
c.883C= (p.Leu295=)
c.1597C= (p.Leu533=)
n.2393C=
n.2601C=
1g.197427765C>GCA344037363CRB1c.2440C>G (p.Leu814Val)
c.1321C>G (p.Leu441Val)
c.583C>G (p.Leu195Val)
c.2104C>G (p.Leu702Val)
n.341C>G
c.2233C>G (p.Leu745Val)
c.2128+5809C>G (n.2128+5809C>G)
n.2441C>G
n.2649C>G
c.1858C>G (p.Leu620Val)
c.883C>G (p.Leu295Val)
c.1597C>G (p.Leu533Val)
n.2393C>G
n.2601C>G
 dbSNP
1g.197427765C>TCA422808751CRB1c.2440C>T (p.Leu814=)
c.1321C>T (p.Leu441=)
c.583C>T (p.Leu195=)
c.2104C>T (p.Leu702=)
n.341C>T
c.2233C>T (p.Leu745=)
c.2128+5809C>T (n.2128+5809C>T)
n.2441C>T
n.2649C>T
c.1858C>T (p.Leu620=)
c.883C>T (p.Leu295=)
c.1597C>T (p.Leu533=)
n.2393C>T
n.2601C>T
1g.197427766T>ACA228007CRB1c.2441T>A (p.Leu814Gln)
c.1322T>A (p.Leu441Gln)
c.584T>A (p.Leu195Gln)
c.2105T>A (p.Leu702Gln)
n.342T>A
c.2234T>A (p.Leu745Gln)
c.2128+5810T>A (n.2128+5810T>A)
n.2442T>A
n.2650T>A
c.1859T>A (p.Leu620Gln)
c.884T>A (p.Leu295Gln)
c.1598T>A (p.Leu533Gln)
n.2394T>A
n.2602T>A
 ClinVar dbSNP
1g.197427766T>CCA344037371CRB1c.2441T>C (p.Leu814Pro)
c.1322T>C (p.Leu441Pro)
c.584T>C (p.Leu195Pro)
c.2105T>C (p.Leu702Pro)
n.342T>C
c.2234T>C (p.Leu745Pro)
c.2128+5810T>C (n.2128+5810T>C)
n.2442T>C
n.2650T>C
c.1859T>C (p.Leu620Pro)
c.884T>C (p.Leu295Pro)
c.1598T>C (p.Leu533Pro)
n.2394T>C
n.2602T>C
1g.197427766T>GCA344037373CRB1c.2441T>G (p.Leu814Arg)
c.1322T>G (p.Leu441Arg)
c.584T>G (p.Leu195Arg)
c.2105T>G (p.Leu702Arg)
n.342T>G
c.2234T>G (p.Leu745Arg)
c.2128+5810T>G (n.2128+5810T>G)
n.2442T>G
n.2650T>G
c.1859T>G (p.Leu620Arg)
c.884T>G (p.Leu295Arg)
c.1598T>G (p.Leu533Arg)
n.2394T>G
n.2602T>G
1g.197427766T=CA1140762943CRB1c.2441T= (p.Leu814=)
c.1322T= (p.Leu441=)
c.584T= (p.Leu195=)
c.2105T= (p.Leu702=)
n.342T=
c.2234T= (p.Leu745=)
c.2128+5810T= (n.2128+5810T=)
n.2442T=
n.2650T=
c.1859T= (p.Leu620=)
c.884T= (p.Leu295=)
c.1598T= (p.Leu533=)
n.2394T=
n.2602T=
1g.197427766_197427767delCA2586964523CRB1c.2441_2442del (p.Leu814ArgfsTer23)
c.1322_1323del (p.Leu441ArgfsTer23)
c.584_585del (p.Leu195ArgfsTer23)
c.2105_2106del (p.Leu702ArgfsTer23)
n.342_343del
c.2234_2235del (p.Leu745ArgfsTer23)
c.2128+5810_2128+5811del (n.2128+5810_2128+5811del)
n.2442_2443del
n.2650_2651del
c.1859_1860del (p.Leu620ArgfsTer23)
c.884_885del (p.Leu295ArgfsTer23)
c.1598_1599del (p.Leu533ArgfsTer23)
n.2394_2395del
n.2602_2603del
1g.197427767A>CCA422808752CRB1c.2442A>C (p.Leu814=)
c.1323A>C (p.Leu441=)
c.585A>C (p.Leu195=)
c.2106A>C (p.Leu702=)
n.343A>C
c.2235A>C (p.Leu745=)
c.2128+5811A>C (n.2128+5811A>C)
n.2443A>C
n.2651A>C
c.1860A>C (p.Leu620=)
c.885A>C (p.Leu295=)
c.1599A>C (p.Leu533=)
n.2395A>C
n.2603A>C
1g.197427767A>GCA422808754CRB1c.2442A>G (p.Leu814=)
c.1323A>G (p.Leu441=)
c.585A>G (p.Leu195=)
c.2106A>G (p.Leu702=)
n.343A>G
c.2235A>G (p.Leu745=)
c.2128+5811A>G (n.2128+5811A>G)
n.2443A>G
n.2651A>G
c.1860A>G (p.Leu620=)
c.885A>G (p.Leu295=)
c.1599A>G (p.Leu533=)
n.2395A>G
n.2603A>G
1g.197427767A>TCA422808756CRB1c.2442A>T (p.Leu814=)
c.1323A>T (p.Leu441=)
c.585A>T (p.Leu195=)
c.2106A>T (p.Leu702=)
n.343A>T
c.2235A>T (p.Leu745=)
c.2128+5811A>T (n.2128+5811A>T)
n.2443A>T
n.2651A>T
c.1860A>T (p.Leu620=)
c.885A>T (p.Leu295=)
c.1599A>T (p.Leu533=)
n.2395A>T
n.2603A>T
1g.197427768G>ACA344037378CRB1c.2443G>A (p.Gly815Arg)
c.1324G>A (p.Gly442Arg)
c.586G>A (p.Gly196Arg)
c.2107G>A (p.Gly703Arg)
n.344G>A
c.2236G>A (p.Gly746Arg)
c.2128+5812G>A (n.2128+5812G>A)
n.2444G>A
n.2652G>A
c.1861G>A (p.Gly621Arg)
c.886G>A (p.Gly296Arg)
c.1600G>A (p.Gly534Arg)
n.2396G>A
n.2604G>A
 COSMIC
1g.197427768G>CCA344037381CRB1c.2443G>C (p.Gly815Arg)
c.1324G>C (p.Gly442Arg)
c.586G>C (p.Gly196Arg)
c.2107G>C (p.Gly703Arg)
n.344G>C
c.2236G>C (p.Gly746Arg)
c.2128+5812G>C (n.2128+5812G>C)
n.2444G>C
n.2652G>C
c.1861G>C (p.Gly621Arg)
c.886G>C (p.Gly296Arg)
c.1600G>C (p.Gly534Arg)
n.2396G>C
n.2604G>C
1g.197427768G>TCA344037383CRB1c.2443G>T (p.Gly815Ter)
c.1324G>T (p.Gly442Ter)
c.586G>T (p.Gly196Ter)
c.2107G>T (p.Gly703Ter)
n.344G>T
c.2236G>T (p.Gly746Ter)
c.2128+5812G>T (n.2128+5812G>T)
n.2444G>T
n.2652G>T
c.1861G>T (p.Gly621Ter)
c.886G>T (p.Gly296Ter)
c.1600G>T (p.Gly534Ter)
n.2396G>T
n.2604G>T
1g.197427768_197427769delinsAACA645534549CRB1c.2443_2444delinsAA (p.Gly815Lys)
c.1324_1325delinsAA (p.Gly442Lys)
c.586_587delinsAA (p.Gly196Lys)
c.2107_2108delinsAA (p.Gly703Lys)
n.344_345delinsAA
c.2236_2237delinsAA (p.Gly746Lys)
c.2128+5812_2128+5813delinsAA (n.2128+5812_2128+5813delinsAA)
n.2444_2445delinsAA
n.2652_2653delinsAA
c.1861_1862delinsAA (p.Gly621Lys)
c.886_887delinsAA (p.Gly296Lys)
c.1600_1601delinsAA (p.Gly534Lys)
n.2396_2397delinsAA
n.2604_2605delinsAA
 COSMIC
1g.197427769G>ACA344037388CRB1c.2444G>A (p.Gly815Glu)
c.1325G>A (p.Gly442Glu)
c.587G>A (p.Gly196Glu)
c.2108G>A (p.Gly703Glu)
n.345G>A
c.2237G>A (p.Gly746Glu)
c.2128+5813G>A (n.2128+5813G>A)
n.2445G>A
n.2653G>A
c.1862G>A (p.Gly621Glu)
c.887G>A (p.Gly296Glu)
c.1601G>A (p.Gly534Glu)
n.2397G>A
n.2605G>A
 COSMIC COSMIC
1g.197427769G>CCA344037390CRB1c.2444G>C (p.Gly815Ala)
c.1325G>C (p.Gly442Ala)
c.587G>C (p.Gly196Ala)
c.2108G>C (p.Gly703Ala)
n.345G>C
c.2237G>C (p.Gly746Ala)
c.2128+5813G>C (n.2128+5813G>C)
n.2445G>C
n.2653G>C
c.1862G>C (p.Gly621Ala)
c.887G>C (p.Gly296Ala)
c.1601G>C (p.Gly534Ala)
n.2397G>C
n.2605G>C
1g.197427769G>TCA344037393CRB1c.2444G>T (p.Gly815Val)
c.1325G>T (p.Gly442Val)
c.587G>T (p.Gly196Val)
c.2108G>T (p.Gly703Val)
n.345G>T
c.2237G>T (p.Gly746Val)
c.2128+5813G>T (n.2128+5813G>T)
n.2445G>T
n.2653G>T
c.1862G>T (p.Gly621Val)
c.887G>T (p.Gly296Val)
c.1601G>T (p.Gly534Val)
n.2397G>T
n.2605G>T
 gnomAD v4
1g.197427770A>CCA422808758CRB1c.2445A>C (p.Gly815=)
c.1326A>C (p.Gly442=)
c.588A>C (p.Gly196=)
c.2109A>C (p.Gly703=)
n.346A>C
c.2238A>C (p.Gly746=)
c.2128+5814A>C (n.2128+5814A>C)
n.2446A>C
n.2654A>C
c.1863A>C (p.Gly621=)
c.888A>C (p.Gly296=)
c.1602A>C (p.Gly534=)
n.2398A>C
n.2606A>C
1g.197427770A>GCA422808762CRB1c.2445A>G (p.Gly815=)
c.1326A>G (p.Gly442=)
c.588A>G (p.Gly196=)
c.2109A>G (p.Gly703=)
n.346A>G
c.2238A>G (p.Gly746=)
c.2128+5814A>G (n.2128+5814A>G)
n.2446A>G
n.2654A>G
c.1863A>G (p.Gly621=)
c.888A>G (p.Gly296=)
c.1602A>G (p.Gly534=)
n.2398A>G
n.2606A>G
1g.197427770A>TCA422808760CRB1c.2445A>T (p.Gly815=)
c.1326A>T (p.Gly442=)
c.588A>T (p.Gly196=)
c.2109A>T (p.Gly703=)
n.346A>T
c.2238A>T (p.Gly746=)
c.2128+5814A>T (n.2128+5814A>T)
n.2446A>T
n.2654A>T
c.1863A>T (p.Gly621=)
c.888A>T (p.Gly296=)
c.1602A>T (p.Gly534=)
n.2398A>T
n.2606A>T
1g.197427771T>ACA344037401CRB1c.2446T>A (p.Phe816Ile)
c.1327T>A (p.Phe443Ile)
c.589T>A (p.Phe197Ile)
c.2110T>A (p.Phe704Ile)
n.347T>A
c.2239T>A (p.Phe747Ile)
c.2128+5815T>A (n.2128+5815T>A)
n.2447T>A
n.2655T>A
c.1864T>A (p.Phe622Ile)
c.889T>A (p.Phe297Ile)
c.1603T>A (p.Phe535Ile)
n.2399T>A
n.2607T>A
1g.197427771T>CCA344037404CRB1c.2446T>C (p.Phe816Leu)
c.1327T>C (p.Phe443Leu)
c.589T>C (p.Phe197Leu)
c.2110T>C (p.Phe704Leu)
n.347T>C
c.2239T>C (p.Phe747Leu)
c.2128+5815T>C (n.2128+5815T>C)
n.2447T>C
n.2655T>C
c.1864T>C (p.Phe622Leu)
c.889T>C (p.Phe297Leu)
c.1603T>C (p.Phe535Leu)
n.2399T>C
n.2607T>C
1g.197427771T>GCA344037397CRB1c.2446T>G (p.Phe816Val)
c.1327T>G (p.Phe443Val)
c.589T>G (p.Phe197Val)
c.2110T>G (p.Phe704Val)
n.347T>G
c.2239T>G (p.Phe747Val)
c.2128+5815T>G (n.2128+5815T>G)
n.2447T>G
n.2655T>G
c.1864T>G (p.Phe622Val)
c.889T>G (p.Phe297Val)
c.1603T>G (p.Phe535Val)
n.2399T>G
n.2607T>G
 dbSNP
1g.197427771T=CA1218066260CRB1c.2446T= (p.Phe816=)
c.1327T= (p.Phe443=)
c.589T= (p.Phe197=)
c.2110T= (p.Phe704=)
n.347T=
c.2239T= (p.Phe747=)
c.2128+5815T= (n.2128+5815T=)
n.2447T=
n.2655T=
c.1864T= (p.Phe622=)
c.889T= (p.Phe297=)
c.1603T= (p.Phe535=)
n.2399T=
n.2607T=
1g.197427772T>ACA344037411CRB1c.2447T>A (p.Phe816Tyr)
c.1328T>A (p.Phe443Tyr)
c.590T>A (p.Phe197Tyr)
c.2111T>A (p.Phe704Tyr)
n.348T>A
c.2240T>A (p.Phe747Tyr)
c.2128+5816T>A (n.2128+5816T>A)
n.2448T>A
n.2656T>A
c.1865T>A (p.Phe622Tyr)
c.890T>A (p.Phe297Tyr)
c.1604T>A (p.Phe535Tyr)
n.2400T>A
n.2608T>A
1g.197427772T>CCA344037413CRB1c.2447T>C (p.Phe816Ser)
c.1328T>C (p.Phe443Ser)
c.590T>C (p.Phe197Ser)
c.2111T>C (p.Phe704Ser)
n.348T>C
c.2240T>C (p.Phe747Ser)
c.2128+5816T>C (n.2128+5816T>C)
n.2448T>C
n.2656T>C
c.1865T>C (p.Phe622Ser)
c.890T>C (p.Phe297Ser)
c.1604T>C (p.Phe535Ser)
n.2400T>C
n.2608T>C
1g.197427772T>GCA344037417CRB1c.2447T>G (p.Phe816Cys)
c.1328T>G (p.Phe443Cys)
c.590T>G (p.Phe197Cys)
c.2111T>G (p.Phe704Cys)
n.348T>G
c.2240T>G (p.Phe747Cys)
c.2128+5816T>G (n.2128+5816T>G)
n.2448T>G
n.2656T>G
c.1865T>G (p.Phe622Cys)
c.890T>G (p.Phe297Cys)
c.1604T>G (p.Phe535Cys)
n.2400T>G
n.2608T>G
1g.197427773T>ACA344037419CRB1c.2448T>A (p.Phe816Leu)
c.1329T>A (p.Phe443Leu)
c.591T>A (p.Phe197Leu)
c.2112T>A (p.Phe704Leu)
n.349T>A
c.2241T>A (p.Phe747Leu)
c.2128+5817T>A (n.2128+5817T>A)
n.2449T>A
n.2657T>A
c.1866T>A (p.Phe622Leu)
c.891T>A (p.Phe297Leu)
c.1605T>A (p.Phe535Leu)
n.2401T>A
n.2609T>A
1g.197427773T>CCA422808764CRB1c.2448T>C (p.Phe816=)
c.1329T>C (p.Phe443=)
c.591T>C (p.Phe197=)
c.2112T>C (p.Phe704=)
n.349T>C
c.2241T>C (p.Phe747=)
c.2128+5817T>C (n.2128+5817T>C)
n.2449T>C
n.2657T>C
c.1866T>C (p.Phe622=)
c.891T>C (p.Phe297=)
c.1605T>C (p.Phe535=)
n.2401T>C
n.2609T>C
1g.197427773T>GCA344037421CRB1c.2448T>G (p.Phe816Leu)
c.1329T>G (p.Phe443Leu)
c.591T>G (p.Phe197Leu)
c.2112T>G (p.Phe704Leu)
n.349T>G
c.2241T>G (p.Phe747Leu)
c.2128+5817T>G (n.2128+5817T>G)
n.2449T>G
n.2657T>G
c.1866T>G (p.Phe622Leu)
c.891T>G (p.Phe297Leu)
c.1605T>G (p.Phe535Leu)
n.2401T>G
n.2609T>G
1g.197427774A>CCA344037426CRB1c.2449A>C (p.Ile817Leu)
c.1330A>C (p.Ile444Leu)
c.592A>C (p.Ile198Leu)
c.2113A>C (p.Ile705Leu)
n.350A>C
c.2242A>C (p.Ile748Leu)
c.2128+5818A>C (n.2128+5818A>C)
n.2450A>C
n.2658A>C
c.1867A>C (p.Ile623Leu)
c.892A>C (p.Ile298Leu)
c.1606A>C (p.Ile536Leu)
n.2402A>C
n.2610A>C
1g.197427774A>GCA344037428CRB1c.2449A>G (p.Ile817Val)
c.1330A>G (p.Ile444Val)
c.592A>G (p.Ile198Val)
c.2113A>G (p.Ile705Val)
n.350A>G
c.2242A>G (p.Ile748Val)
c.2128+5818A>G (n.2128+5818A>G)
n.2450A>G
n.2658A>G
c.1867A>G (p.Ile623Val)
c.892A>G (p.Ile298Val)
c.1606A>G (p.Ile536Val)
n.2402A>G
n.2610A>G
1g.197427774A>TCA344037430CRB1c.2449A>T (p.Ile817Phe)
c.1330A>T (p.Ile444Phe)
c.592A>T (p.Ile198Phe)
c.2113A>T (p.Ile705Phe)
n.350A>T
c.2242A>T (p.Ile748Phe)
c.2128+5818A>T (n.2128+5818A>T)
n.2450A>T
n.2658A>T
c.1867A>T (p.Ile623Phe)
c.892A>T (p.Ile298Phe)
c.1606A>T (p.Ile536Phe)
n.2402A>T
n.2610A>T
1g.197427775T>ACA344037435CRB1c.2450T>A (p.Ile817Asn)
c.1331T>A (p.Ile444Asn)
c.593T>A (p.Ile198Asn)
c.2114T>A (p.Ile705Asn)
n.351T>A
c.2243T>A (p.Ile748Asn)
c.2128+5819T>A (n.2128+5819T>A)
n.2451T>A
n.2659T>A
c.1868T>A (p.Ile623Asn)
c.893T>A (p.Ile298Asn)
c.1607T>A (p.Ile536Asn)
n.2403T>A
n.2611T>A
1g.197427775T>CCA344037437CRB1c.2450T>C (p.Ile817Thr)
c.1331T>C (p.Ile444Thr)
c.593T>C (p.Ile198Thr)
c.2114T>C (p.Ile705Thr)
n.351T>C
c.2243T>C (p.Ile748Thr)
c.2128+5819T>C (n.2128+5819T>C)
n.2451T>C
n.2659T>C
c.1868T>C (p.Ile623Thr)
c.893T>C (p.Ile298Thr)
c.1607T>C (p.Ile536Thr)
n.2403T>C
n.2611T>C
1g.197427775T>GCA344037439CRB1c.2450T>G (p.Ile817Ser)
c.1331T>G (p.Ile444Ser)
c.593T>G (p.Ile198Ser)
c.2114T>G (p.Ile705Ser)
n.351T>G
c.2243T>G (p.Ile748Ser)
c.2128+5819T>G (n.2128+5819T>G)
n.2451T>G
n.2659T>G
c.1868T>G (p.Ile623Ser)
c.893T>G (p.Ile298Ser)
c.1607T>G (p.Ile536Ser)
n.2403T>G
n.2611T>G
1g.197427776T>ACA422808767CRB1c.2451T>A (p.Ile817=)
c.1332T>A (p.Ile444=)
c.594T>A (p.Ile198=)
c.2115T>A (p.Ile705=)
n.352T>A
c.2244T>A (p.Ile748=)
c.2128+5820T>A (n.2128+5820T>A)
n.2452T>A
n.2660T>A
c.1869T>A (p.Ile623=)
c.894T>A (p.Ile298=)
c.1608T>A (p.Ile536=)
n.2404T>A
n.2612T>A
1g.197427776T>CCA422808768CRB1c.2451T>C (p.Ile817=)
c.1332T>C (p.Ile444=)
c.594T>C (p.Ile198=)
c.2115T>C (p.Ile705=)
n.352T>C
c.2244T>C (p.Ile748=)
c.2128+5820T>C (n.2128+5820T>C)
n.2452T>C
n.2660T>C
c.1869T>C (p.Ile623=)
c.894T>C (p.Ile298=)
c.1608T>C (p.Ile536=)
n.2404T>C
n.2612T>C
1g.197427776T>GCA344037440CRB1c.2451T>G (p.Ile817Met)
c.1332T>G (p.Ile444Met)
c.594T>G (p.Ile198Met)
c.2115T>G (p.Ile705Met)
n.352T>G
c.2244T>G (p.Ile748Met)
c.2128+5820T>G (n.2128+5820T>G)
n.2452T>G
n.2660T>G
c.1869T>G (p.Ile623Met)
c.894T>G (p.Ile298Met)
c.1608T>G (p.Ile536Met)
n.2404T>G
n.2612T>G
1g.197427777T>ACA344037449CRB1c.2452T>A (p.Ser818Thr)
c.1333T>A (p.Ser445Thr)
c.595T>A (p.Ser199Thr)
c.2116T>A (p.Ser706Thr)
n.353T>A
c.2245T>A (p.Ser749Thr)
c.2128+5821T>A (n.2128+5821T>A)
n.2453T>A
n.2661T>A
c.1870T>A (p.Ser624Thr)
c.895T>A (p.Ser299Thr)
c.1609T>A (p.Ser537Thr)
n.2405T>A
n.2613T>A
1g.197427777T>CCA344037443CRB1c.2452T>C (p.Ser818Pro)
c.1333T>C (p.Ser445Pro)
c.595T>C (p.Ser199Pro)
c.2116T>C (p.Ser706Pro)
n.353T>C
c.2245T>C (p.Ser749Pro)
c.2128+5821T>C (n.2128+5821T>C)
n.2453T>C
n.2661T>C
c.1870T>C (p.Ser624Pro)
c.895T>C (p.Ser299Pro)
c.1609T>C (p.Ser537Pro)
n.2405T>C
n.2613T>C
1g.197427777T>GCA344037446CRB1c.2452T>G (p.Ser818Ala)
c.1333T>G (p.Ser445Ala)
c.595T>G (p.Ser199Ala)
c.2116T>G (p.Ser706Ala)
n.353T>G
c.2245T>G (p.Ser749Ala)
c.2128+5821T>G (n.2128+5821T>G)
n.2453T>G
n.2661T>G
c.1870T>G (p.Ser624Ala)
c.895T>G (p.Ser299Ala)
c.1609T>G (p.Ser537Ala)
n.2405T>G
n.2613T>G
1g.197427778C>ACA344037454CRB1c.2453C>A (p.Ser818Tyr)
c.1334C>A (p.Ser445Tyr)
c.596C>A (p.Ser199Tyr)
c.2117C>A (p.Ser706Tyr)
n.354C>A
c.2246C>A (p.Ser749Tyr)
c.2128+5822C>A (n.2128+5822C>A)
n.2454C>A
n.2662C>A
c.1871C>A (p.Ser624Tyr)
c.896C>A (p.Ser299Tyr)
c.1610C>A (p.Ser537Tyr)
n.2406C>A
n.2614C>A
 gnomAD v4
1g.197427778C>GCA344037457CRB1c.2453C>G (p.Ser818Cys)
c.1334C>G (p.Ser445Cys)
c.596C>G (p.Ser199Cys)
c.2117C>G (p.Ser706Cys)
n.354C>G
c.2246C>G (p.Ser749Cys)
c.2128+5822C>G (n.2128+5822C>G)
n.2454C>G
n.2662C>G
c.1871C>G (p.Ser624Cys)
c.896C>G (p.Ser299Cys)
c.1610C>G (p.Ser537Cys)
n.2406C>G
n.2614C>G
1g.197427778C>TCA344037460CRB1c.2453C>T (p.Ser818Phe)
c.1334C>T (p.Ser445Phe)
c.596C>T (p.Ser199Phe)
c.2117C>T (p.Ser706Phe)
n.354C>T
c.2246C>T (p.Ser749Phe)
c.2128+5822C>T (n.2128+5822C>T)
n.2454C>T
n.2662C>T
c.1871C>T (p.Ser624Phe)
c.896C>T (p.Ser299Phe)
c.1610C>T (p.Ser537Phe)
n.2406C>T
n.2614C>T
 COSMIC
1g.197427779T>ACA422808770CRB1c.2454T>A (p.Ser818=)
c.1335T>A (p.Ser445=)
c.597T>A (p.Ser199=)
c.2118T>A (p.Ser706=)
n.355T>A
c.2247T>A (p.Ser749=)
c.2128+5823T>A (n.2128+5823T>A)
n.2455T>A
n.2663T>A
c.1872T>A (p.Ser624=)
c.897T>A (p.Ser299=)
c.1611T>A (p.Ser537=)
n.2407T>A
n.2615T>A
1g.197427779T>CCA422808771CRB1c.2454T>C (p.Ser818=)
c.1335T>C (p.Ser445=)
c.597T>C (p.Ser199=)
c.2118T>C (p.Ser706=)
n.355T>C
c.2247T>C (p.Ser749=)
c.2128+5823T>C (n.2128+5823T>C)
n.2455T>C
n.2663T>C
c.1872T>C (p.Ser624=)
c.897T>C (p.Ser299=)
c.1611T>C (p.Ser537=)
n.2407T>C
n.2615T>C
1g.197427779T>GCA422808772CRB1c.2454T>G (p.Ser818=)
c.1335T>G (p.Ser445=)
c.597T>G (p.Ser199=)
c.2118T>G (p.Ser706=)
n.355T>G
c.2247T>G (p.Ser749=)
c.2128+5823T>G (n.2128+5823T>G)
n.2455T>G
n.2663T>G
c.1872T>G (p.Ser624=)
c.897T>G (p.Ser299=)
c.1611T>G (p.Ser537=)
n.2407T>G
n.2615T>G
1g.197427780G>ACA344037464CRB1c.2455G>A (p.Ala819Thr)
c.1336G>A (p.Ala446Thr)
c.598G>A (p.Ala200Thr)
c.2119G>A (p.Ala707Thr)
n.356G>A
c.2248G>A (p.Ala750Thr)
c.2128+5824G>A (n.2128+5824G>A)
n.2456G>A
n.2664G>A
c.1873G>A (p.Ala625Thr)
c.898G>A (p.Ala300Thr)
c.1612G>A (p.Ala538Thr)
n.2408G>A
n.2616G>A
 dbSNP gnomAD v3 gnomAD v4
1g.197427780G>CCA344037467CRB1c.2455G>C (p.Ala819Pro)
c.1336G>C (p.Ala446Pro)
c.598G>C (p.Ala200Pro)
c.2119G>C (p.Ala707Pro)
n.356G>C
c.2248G>C (p.Ala750Pro)
c.2128+5824G>C (n.2128+5824G>C)
n.2456G>C
n.2664G>C
c.1873G>C (p.Ala625Pro)
c.898G>C (p.Ala300Pro)
c.1612G>C (p.Ala538Pro)
n.2408G>C
n.2616G>C
1g.197427780G=CA1218066263CRB1c.2455G= (p.Ala819=)
c.1336G= (p.Ala446=)
c.598G= (p.Ala200=)
c.2119G= (p.Ala707=)
n.356G=
c.2248G= (p.Ala750=)
c.2128+5824G= (n.2128+5824G=)
n.2456G=
n.2664G=
c.1873G= (p.Ala625=)
c.898G= (p.Ala300=)
c.1612G= (p.Ala538=)
n.2408G=
n.2616G=
1g.197427780G>TCA344037470CRB1c.2455G>T (p.Ala819Ser)
c.1336G>T (p.Ala446Ser)
c.598G>T (p.Ala200Ser)
c.2119G>T (p.Ala707Ser)
n.356G>T
c.2248G>T (p.Ala750Ser)
c.2128+5824G>T (n.2128+5824G>T)
n.2456G>T
n.2664G>T
c.1873G>T (p.Ala625Ser)
c.898G>T (p.Ala300Ser)
c.1612G>T (p.Ala538Ser)
n.2408G>T
n.2616G>T
 gnomAD v4
1g.197427781C>ACA344037478CRB1c.2456C>A (p.Ala819Asp)
c.1337C>A (p.Ala446Asp)
c.599C>A (p.Ala200Asp)
c.2120C>A (p.Ala707Asp)
n.357C>A
c.2249C>A (p.Ala750Asp)
c.2128+5825C>A (n.2128+5825C>A)
n.2457C>A
n.2665C>A
c.1874C>A (p.Ala625Asp)
c.899C>A (p.Ala300Asp)
c.1613C>A (p.Ala538Asp)
n.2409C>A
n.2617C>A
1g.197427781C>GCA344037480CRB1c.2456C>G (p.Ala819Gly)
c.1337C>G (p.Ala446Gly)
c.599C>G (p.Ala200Gly)
c.2120C>G (p.Ala707Gly)
n.357C>G
c.2249C>G (p.Ala750Gly)
c.2128+5825C>G (n.2128+5825C>G)
n.2457C>G
n.2665C>G
c.1874C>G (p.Ala625Gly)
c.899C>G (p.Ala300Gly)
c.1613C>G (p.Ala538Gly)
n.2409C>G
n.2617C>G
1g.197427781C>TCA344037482CRB1c.2456C>T (p.Ala819Val)
c.1337C>T (p.Ala446Val)
c.599C>T (p.Ala200Val)
c.2120C>T (p.Ala707Val)
n.357C>T
c.2249C>T (p.Ala750Val)
c.2128+5825C>T (n.2128+5825C>T)
n.2457C>T
n.2665C>T
c.1874C>T (p.Ala625Val)
c.899C>T (p.Ala300Val)
c.1613C>T (p.Ala538Val)
n.2409C>T
n.2617C>T
 gnomAD v4
1g.197427782T>ACA422808775CRB1c.2457T>A (p.Ala819=)
c.1338T>A (p.Ala446=)
c.600T>A (p.Ala200=)
c.2121T>A (p.Ala707=)
n.358T>A
c.2250T>A (p.Ala750=)
c.2128+5826T>A (n.2128+5826T>A)
n.2458T>A
n.2666T>A
c.1875T>A (p.Ala625=)
c.900T>A (p.Ala300=)
c.1614T>A (p.Ala538=)
n.2410T>A
n.2618T>A
1g.197427782T>CCA422808777CRB1c.2457T>C (p.Ala819=)
c.1338T>C (p.Ala446=)
c.600T>C (p.Ala200=)
c.2121T>C (p.Ala707=)
n.358T>C
c.2250T>C (p.Ala750=)
c.2128+5826T>C (n.2128+5826T>C)
n.2458T>C
n.2666T>C
c.1875T>C (p.Ala625=)
c.900T>C (p.Ala300=)
c.1614T>C (p.Ala538=)
n.2410T>C
n.2618T>C
1g.197427782T>GCA422808778CRB1c.2457T>G (p.Ala819=)
c.1338T>G (p.Ala446=)
c.600T>G (p.Ala200=)
c.2121T>G (p.Ala707=)
n.358T>G
c.2250T>G (p.Ala750=)
c.2128+5826T>G (n.2128+5826T>G)
n.2458T>G
n.2666T>G
c.1875T>G (p.Ala625=)
c.900T>G (p.Ala300=)
c.1614T>G (p.Ala538=)
n.2410T>G
n.2618T>G
1g.197427783T>ACA344037484CRB1c.2458T>A (p.Ser820Thr)
c.1339T>A (p.Ser447Thr)
c.601T>A (p.Ser201Thr)
c.2122T>A (p.Ser708Thr)
n.359T>A
c.2251T>A (p.Ser751Thr)
c.2128+5827T>A (n.2128+5827T>A)
n.2459T>A
n.2667T>A
c.1876T>A (p.Ser626Thr)
c.901T>A (p.Ser301Thr)
c.1615T>A (p.Ser539Thr)
n.2411T>A
n.2619T>A
1g.197427783T>CCA344037486CRB1c.2458T>C (p.Ser820Pro)
c.1339T>C (p.Ser447Pro)
c.601T>C (p.Ser201Pro)
c.2122T>C (p.Ser708Pro)
n.359T>C
c.2251T>C (p.Ser751Pro)
c.2128+5827T>C (n.2128+5827T>C)
n.2459T>C
n.2667T>C
c.1876T>C (p.Ser626Pro)
c.901T>C (p.Ser301Pro)
c.1615T>C (p.Ser539Pro)
n.2411T>C
n.2619T>C
1g.197427783T>GCA344037489CRB1c.2458T>G (p.Ser820Ala)
c.1339T>G (p.Ser447Ala)
c.601T>G (p.Ser201Ala)
c.2122T>G (p.Ser708Ala)
n.359T>G
c.2251T>G (p.Ser751Ala)
c.2128+5827T>G (n.2128+5827T>G)
n.2459T>G
n.2667T>G
c.1876T>G (p.Ser626Ala)
c.901T>G (p.Ser301Ala)
c.1615T>G (p.Ser539Ala)
n.2411T>G
n.2619T>G
1g.197427784C>ACA344037500CRB1c.2459C>A (p.Ser820Tyr)
c.1340C>A (p.Ser447Tyr)
c.602C>A (p.Ser201Tyr)
c.2123C>A (p.Ser708Tyr)
n.360C>A
c.2252C>A (p.Ser751Tyr)
c.2128+5828C>A (n.2128+5828C>A)
n.2460C>A
n.2668C>A
c.1877C>A (p.Ser626Tyr)
c.902C>A (p.Ser301Tyr)
c.1616C>A (p.Ser539Tyr)
n.2412C>A
n.2620C>A
1g.197427784C=CA1218066266CRB1c.2459C= (p.Ser820=)
c.1340C= (p.Ser447=)
c.602C= (p.Ser201=)
c.2123C= (p.Ser708=)
n.360C=
c.2252C= (p.Ser751=)
c.2128+5828C= (n.2128+5828C=)
n.2460C=
n.2668C=
c.1877C= (p.Ser626=)
c.902C= (p.Ser301=)
c.1616C= (p.Ser539=)
n.2412C=
n.2620C=
1g.197427784C>GCA344037496CRB1c.2459C>G (p.Ser820Cys)
c.1340C>G (p.Ser447Cys)
c.602C>G (p.Ser201Cys)
c.2123C>G (p.Ser708Cys)
n.360C>G
c.2252C>G (p.Ser751Cys)
c.2128+5828C>G (n.2128+5828C>G)
n.2460C>G
n.2668C>G
c.1877C>G (p.Ser626Cys)
c.902C>G (p.Ser301Cys)
c.1616C>G (p.Ser539Cys)
n.2412C>G
n.2620C>G
 gnomAD v4
1g.197427784C>TCA1312122CRB1c.2459C>T (p.Ser820Phe)
c.1340C>T (p.Ser447Phe)
c.602C>T (p.Ser201Phe)
c.2123C>T (p.Ser708Phe)
n.360C>T
c.2252C>T (p.Ser751Phe)
c.2128+5828C>T (n.2128+5828C>T)
n.2460C>T
n.2668C>T
c.1877C>T (p.Ser626Phe)
c.902C>T (p.Ser301Phe)
c.1616C>T (p.Ser539Phe)
n.2412C>T
n.2620C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.197427785T>ACA422808783CRB1c.2460T>A (p.Ser820=)
c.1341T>A (p.Ser447=)
c.603T>A (p.Ser201=)
c.2124T>A (p.Ser708=)
n.361T>A
c.2253T>A (p.Ser751=)
c.2128+5829T>A (n.2128+5829T>A)
n.2461T>A
n.2669T>A
c.1878T>A (p.Ser626=)
c.903T>A (p.Ser301=)
c.1617T>A (p.Ser539=)
n.2413T>A
n.2621T>A
1g.197427785T>CCA422808780CRB1c.2460T>C (p.Ser820=)
c.1341T>C (p.Ser447=)
c.603T>C (p.Ser201=)
c.2124T>C (p.Ser708=)
n.361T>C
c.2253T>C (p.Ser751=)
c.2128+5829T>C (n.2128+5829T>C)
n.2461T>C
n.2669T>C
c.1878T>C (p.Ser626=)
c.903T>C (p.Ser301=)
c.1617T>C (p.Ser539=)
n.2413T>C
n.2621T>C
1g.197427785T>GCA422808782CRB1c.2460T>G (p.Ser820=)
c.1341T>G (p.Ser447=)
c.603T>G (p.Ser201=)
c.2124T>G (p.Ser708=)
n.361T>G
c.2253T>G (p.Ser751=)
c.2128+5829T>G (n.2128+5829T>G)
n.2461T>G
n.2669T>G
c.1878T>G (p.Ser626=)
c.903T>G (p.Ser301=)
c.1617T>G (p.Ser539=)
n.2413T>G
n.2621T>G
1g.197427786A>CCA344037505CRB1c.2461A>C (p.Thr821Pro)
c.1342A>C (p.Thr448Pro)
c.604A>C (p.Thr202Pro)
c.2125A>C (p.Thr709Pro)
n.362A>C
c.2254A>C (p.Thr752Pro)
c.2128+5830A>C (n.2128+5830A>C)
n.2462A>C
n.2670A>C
c.1879A>C (p.Thr627Pro)
c.904A>C (p.Thr302Pro)
c.1618A>C (p.Thr540Pro)
n.2414A>C
n.2622A>C
1g.197427786A>GCA344037511CRB1c.2461A>G (p.Thr821Ala)
c.1342A>G (p.Thr448Ala)
c.604A>G (p.Thr202Ala)
c.2125A>G (p.Thr709Ala)
n.362A>G
c.2254A>G (p.Thr752Ala)
c.2128+5830A>G (n.2128+5830A>G)
n.2462A>G
n.2670A>G
c.1879A>G (p.Thr627Ala)
c.904A>G (p.Thr302Ala)
c.1618A>G (p.Thr540Ala)
n.2414A>G
n.2622A>G
1g.197427786A>TCA344037507CRB1c.2461A>T (p.Thr821Ser)
c.1342A>T (p.Thr448Ser)
c.604A>T (p.Thr202Ser)
c.2125A>T (p.Thr709Ser)
n.362A>T
c.2254A>T (p.Thr752Ser)
c.2128+5830A>T (n.2128+5830A>T)
n.2462A>T
n.2670A>T
c.1879A>T (p.Thr627Ser)
c.904A>T (p.Thr302Ser)
c.1618A>T (p.Thr540Ser)
n.2414A>T
n.2622A>T
1g.197427787C>ACA344037515CRB1c.2462C>A (p.Thr821Lys)
c.1343C>A (p.Thr448Lys)
c.605C>A (p.Thr202Lys)
c.2126C>A (p.Thr709Lys)
n.363C>A
c.2255C>A (p.Thr752Lys)
c.2128+5831C>A (n.2128+5831C>A)
n.2463C>A
n.2671C>A
c.1880C>A (p.Thr627Lys)
c.905C>A (p.Thr302Lys)
c.1619C>A (p.Thr540Lys)
n.2415C>A
n.2623C>A
 gnomAD v4
1g.197427787C=CA1141893786CRB1c.2462C= (p.Thr821=)
c.1343C= (p.Thr448=)
c.605C= (p.Thr202=)
c.2126C= (p.Thr709=)
n.363C=
c.2255C= (p.Thr752=)
c.2128+5831C= (n.2128+5831C=)
n.2463C=
n.2671C=
c.1880C= (p.Thr627=)
c.905C= (p.Thr302=)
c.1619C= (p.Thr540=)
n.2415C=
n.2623C=
1g.197427787C>GCA344037518CRB1c.2462C>G (p.Thr821Arg)
c.1343C>G (p.Thr448Arg)
c.605C>G (p.Thr202Arg)
c.2126C>G (p.Thr709Arg)
n.363C>G
c.2255C>G (p.Thr752Arg)
c.2128+5831C>G (n.2128+5831C>G)
n.2463C>G
n.2671C>G
c.1880C>G (p.Thr627Arg)
c.905C>G (p.Thr302Arg)
c.1619C>G (p.Thr540Arg)
n.2415C>G
n.2623C>G
 ClinVar dbSNP
1g.197427787C>TCA247395CRB1c.2462C>T (p.Thr821Met)
c.1343C>T (p.Thr448Met)
c.605C>T (p.Thr202Met)
c.2126C>T (p.Thr709Met)
n.363C>T
c.2255C>T (p.Thr752Met)
c.2128+5831C>T (n.2128+5831C>T)
n.2463C>T
n.2671C>T
c.1880C>T (p.Thr627Met)
c.905C>T (p.Thr302Met)
c.1619C>T (p.Thr540Met)
n.2415C>T
n.2623C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427788G>ACA1312123CRB1c.2463G>A (p.Thr821=)
c.1344G>A (p.Thr448=)
c.606G>A (p.Thr202=)
c.2127G>A (p.Thr709=)
n.364G>A
c.2256G>A (p.Thr752=)
c.2128+5832G>A (n.2128+5832G>A)
n.2464G>A
n.2672G>A
c.1881G>A (p.Thr627=)
c.906G>A (p.Thr302=)
c.1620G>A (p.Thr540=)
n.2416G>A
n.2624G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197427788G>CCA422808785CRB1c.2463G>C (p.Thr821=)
c.1344G>C (p.Thr448=)
c.606G>C (p.Thr202=)
c.2127G>C (p.Thr709=)
n.364G>C
c.2256G>C (p.Thr752=)
c.2128+5832G>C (n.2128+5832G>C)
n.2464G>C
n.2672G>C
c.1881G>C (p.Thr627=)
c.906G>C (p.Thr302=)
c.1620G>C (p.Thr540=)
n.2416G>C
n.2624G>C
 gnomAD v4
1g.197427788G=CA1144049097CRB1c.2463G= (p.Thr821=)
c.1344G= (p.Thr448=)
c.606G= (p.Thr202=)
c.2127G= (p.Thr709=)
n.364G=
c.2256G= (p.Thr752=)
c.2128+5832G= (n.2128+5832G=)
n.2464G=
n.2672G=
c.1881G= (p.Thr627=)
c.906G= (p.Thr302=)
c.1620G= (p.Thr540=)
n.2416G=
n.2624G=
1g.197427788G>TCA422808786CRB1c.2463G>T (p.Thr821=)
c.1344G>T (p.Thr448=)
c.606G>T (p.Thr202=)
c.2127G>T (p.Thr709=)
n.364G>T
c.2256G>T (p.Thr752=)
c.2128+5832G>T (n.2128+5832G>T)
n.2464G>T
n.2672G>T
c.1881G>T (p.Thr627=)
c.906G>T (p.Thr302=)
c.1620G>T (p.Thr540=)
n.2416G>T
n.2624G>T
1g.197427789T>ACA344037527CRB1c.2464T>A (p.Trp822Arg)
c.1345T>A (p.Trp449Arg)
c.607T>A (p.Trp203Arg)
c.2128T>A (p.Trp710Arg)
n.365T>A
c.2257T>A (p.Trp753Arg)
c.2128+5833T>A (n.2128+5833T>A)
n.2465T>A
n.2673T>A
c.1882T>A (p.Trp628Arg)
c.907T>A (p.Trp303Arg)
c.1621T>A (p.Trp541Arg)
n.2417T>A
n.2625T>A
1g.197427789T>CCA344037529CRB1c.2464T>C (p.Trp822Arg)
c.1345T>C (p.Trp449Arg)
c.607T>C (p.Trp203Arg)
c.2128T>C (p.Trp710Arg)
n.365T>C
c.2257T>C (p.Trp753Arg)
c.2128+5833T>C (n.2128+5833T>C)
n.2465T>C
n.2673T>C
c.1882T>C (p.Trp628Arg)
c.907T>C (p.Trp303Arg)
c.1621T>C (p.Trp541Arg)
n.2417T>C
n.2625T>C
1g.197427789T>GCA344037531CRB1c.2464T>G (p.Trp822Gly)
c.1345T>G (p.Trp449Gly)
c.607T>G (p.Trp203Gly)
c.2128T>G (p.Trp710Gly)
n.365T>G
c.2257T>G (p.Trp753Gly)
c.2128+5833T>G (n.2128+5833T>G)
n.2465T>G
n.2673T>G
c.1882T>G (p.Trp628Gly)
c.907T>G (p.Trp303Gly)
c.1621T>G (p.Trp541Gly)
n.2417T>G
n.2625T>G
1g.197427790G>ACA344037535CRB1c.2465G>A (p.Trp822Ter)
c.1346G>A (p.Trp449Ter)
c.608G>A (p.Trp203Ter)
c.2129G>A (p.Trp710Ter)
n.366G>A
c.2258G>A (p.Trp753Ter)
c.2128+5834G>A (n.2128+5834G>A)
n.2466G>A
n.2674G>A
c.1883G>A (p.Trp628Ter)
c.908G>A (p.Trp303Ter)
c.1622G>A (p.Trp541Ter)
n.2418G>A
n.2626G>A
 COSMIC COSMIC
1g.197427790G>CCA344037539CRB1c.2465G>C (p.Trp822Ser)
c.1346G>C (p.Trp449Ser)
c.608G>C (p.Trp203Ser)
c.2129G>C (p.Trp710Ser)
n.366G>C
c.2258G>C (p.Trp753Ser)
c.2128+5834G>C (n.2128+5834G>C)
n.2466G>C
n.2674G>C
c.1883G>C (p.Trp628Ser)
c.908G>C (p.Trp303Ser)
c.1622G>C (p.Trp541Ser)
n.2418G>C
n.2626G>C
1g.197427790G>TCA344037543CRB1c.2465G>T (p.Trp822Leu)
c.1346G>T (p.Trp449Leu)
c.608G>T (p.Trp203Leu)
c.2129G>T (p.Trp710Leu)
n.366G>T
c.2258G>T (p.Trp753Leu)
c.2128+5834G>T (n.2128+5834G>T)
n.2466G>T
n.2674G>T
c.1883G>T (p.Trp628Leu)
c.908G>T (p.Trp303Leu)
c.1622G>T (p.Trp541Leu)
n.2418G>T
n.2626G>T
1g.197427791G>ACA344037547CRB1c.2466G>A (p.Trp822Ter)
c.1347G>A (p.Trp449Ter)
c.609G>A (p.Trp203Ter)
c.2130G>A (p.Trp710Ter)
n.367G>A
c.2259G>A (p.Trp753Ter)
c.2128+5835G>A (n.2128+5835G>A)
n.2467G>A
n.2675G>A
c.1884G>A (p.Trp628Ter)
c.909G>A (p.Trp303Ter)
c.1623G>A (p.Trp541Ter)
n.2419G>A
n.2627G>A
 ClinVar dbSNP COSMIC COSMIC
1g.197427791G>CCA344037550CRB1c.2466G>C (p.Trp822Cys)
c.1347G>C (p.Trp449Cys)
c.609G>C (p.Trp203Cys)
c.2130G>C (p.Trp710Cys)
n.367G>C
c.2259G>C (p.Trp753Cys)
c.2128+5835G>C (n.2128+5835G>C)
n.2467G>C
n.2675G>C
c.1884G>C (p.Trp628Cys)
c.909G>C (p.Trp303Cys)
c.1623G>C (p.Trp541Cys)
n.2419G>C
n.2627G>C
1g.197427791G=CA1218066276CRB1c.2466G= (p.Trp822=)
c.1347G= (p.Trp449=)
c.609G= (p.Trp203=)
c.2130G= (p.Trp710=)
n.367G=
c.2259G= (p.Trp753=)
c.2128+5835G= (n.2128+5835G=)
n.2467G=
n.2675G=
c.1884G= (p.Trp628=)
c.909G= (p.Trp303=)
c.1623G= (p.Trp541=)
n.2419G=
n.2627G=
1g.197427791G>TCA344037551CRB1c.2466G>T (p.Trp822Cys)
c.1347G>T (p.Trp449Cys)
c.609G>T (p.Trp203Cys)
c.2130G>T (p.Trp710Cys)
n.367G>T
c.2259G>T (p.Trp753Cys)
c.2128+5835G>T (n.2128+5835G>T)
n.2467G>T
n.2675G>T
c.1884G>T (p.Trp628Cys)
c.909G>T (p.Trp303Cys)
c.1623G>T (p.Trp541Cys)
n.2419G>T
n.2627G>T
1g.197427792A=CA1218066279CRB1c.2467A= (p.Lys823=)
c.1348A= (p.Lys450=)
c.610A= (p.Lys204=)
c.2131A= (p.Lys711=)
n.368A=
c.2260A= (p.Lys754=)
c.2128+5836A= (n.2128+5836A=)
n.2468A=
n.2676A=
c.1885A= (p.Lys629=)
c.910A= (p.Lys304=)
c.1624A= (p.Lys542=)
n.2420A=
n.2628A=
1g.197427792A>CCA344037556CRB1c.2467A>C (p.Lys823Gln)
c.1348A>C (p.Lys450Gln)
c.610A>C (p.Lys204Gln)
c.2131A>C (p.Lys711Gln)
n.368A>C
c.2260A>C (p.Lys754Gln)
c.2128+5836A>C (n.2128+5836A>C)
n.2468A>C
n.2676A>C
c.1885A>C (p.Lys629Gln)
c.910A>C (p.Lys304Gln)
c.1624A>C (p.Lys542Gln)
n.2420A>C
n.2628A>C
 dbSNP gnomAD v2 gnomAD v4
1g.197427792A>GCA344037562CRB1c.2467A>G (p.Lys823Glu)
c.1348A>G (p.Lys450Glu)
c.610A>G (p.Lys204Glu)
c.2131A>G (p.Lys711Glu)
n.368A>G
c.2260A>G (p.Lys754Glu)
c.2128+5836A>G (n.2128+5836A>G)
n.2468A>G
n.2676A>G
c.1885A>G (p.Lys629Glu)
c.910A>G (p.Lys304Glu)
c.1624A>G (p.Lys542Glu)
n.2420A>G
n.2628A>G
1g.197427792A>TCA344037558CRB1c.2467A>T (p.Lys823Ter)
c.1348A>T (p.Lys450Ter)
c.610A>T (p.Lys204Ter)
c.2131A>T (p.Lys711Ter)
n.368A>T
c.2260A>T (p.Lys754Ter)
c.2128+5836A>T (n.2128+5836A>T)
n.2468A>T
n.2676A>T
c.1885A>T (p.Lys629Ter)
c.910A>T (p.Lys304Ter)
c.1624A>T (p.Lys542Ter)
n.2420A>T
n.2628A>T
1g.197427793A>CCA344037566CRB1c.2468A>C (p.Lys823Thr)
c.1349A>C (p.Lys450Thr)
c.611A>C (p.Lys204Thr)
c.2132A>C (p.Lys711Thr)
n.369A>C
c.2261A>C (p.Lys754Thr)
c.2128+5837A>C (n.2128+5837A>C)
n.2469A>C
n.2677A>C
c.1886A>C (p.Lys629Thr)
c.911A>C (p.Lys304Thr)
c.1625A>C (p.Lys542Thr)
n.2421A>C
n.2629A>C
1g.197427793A>GCA344037575CRB1c.2468A>G (p.Lys823Arg)
c.1349A>G (p.Lys450Arg)
c.611A>G (p.Lys204Arg)
c.2132A>G (p.Lys711Arg)
n.369A>G
c.2261A>G (p.Lys754Arg)
c.2128+5837A>G (n.2128+5837A>G)
n.2469A>G
n.2677A>G
c.1886A>G (p.Lys629Arg)
c.911A>G (p.Lys304Arg)
c.1625A>G (p.Lys542Arg)
n.2421A>G
n.2629A>G
1g.197427793A>TCA344037579CRB1c.2468A>T (p.Lys823Ile)
c.1349A>T (p.Lys450Ile)
c.611A>T (p.Lys204Ile)
c.2132A>T (p.Lys711Ile)
n.369A>T
c.2261A>T (p.Lys754Ile)
c.2128+5837A>T (n.2128+5837A>T)
n.2469A>T
n.2677A>T
c.1886A>T (p.Lys629Ile)
c.911A>T (p.Lys304Ile)
c.1625A>T (p.Lys542Ile)
n.2421A>T
n.2629A>T
1g.197427794A>CCA344037582CRB1c.2469A>C (p.Lys823Asn)
c.1350A>C (p.Lys450Asn)
c.612A>C (p.Lys204Asn)
c.2133A>C (p.Lys711Asn)
n.370A>C
c.2262A>C (p.Lys754Asn)
c.2128+5838A>C (n.2128+5838A>C)
n.2470A>C
n.2678A>C
c.1887A>C (p.Lys629Asn)
c.912A>C (p.Lys304Asn)
c.1626A>C (p.Lys542Asn)
n.2422A>C
n.2630A>C
1g.197427794A>GCA422808790CRB1c.2469A>G (p.Lys823=)
c.1350A>G (p.Lys450=)
c.612A>G (p.Lys204=)
c.2133A>G (p.Lys711=)
n.370A>G
c.2262A>G (p.Lys754=)
c.2128+5838A>G (n.2128+5838A>G)
n.2470A>G
n.2678A>G
c.1887A>G (p.Lys629=)
c.912A>G (p.Lys304=)
c.1626A>G (p.Lys542=)
n.2422A>G
n.2630A>G
1g.197427794A>TCA344037585CRB1c.2469A>T (p.Lys823Asn)
c.1350A>T (p.Lys450Asn)
c.612A>T (p.Lys204Asn)
c.2133A>T (p.Lys711Asn)
n.370A>T
c.2262A>T (p.Lys754Asn)
c.2128+5838A>T (n.2128+5838A>T)
n.2470A>T
n.2678A>T
c.1887A>T (p.Lys629Asn)
c.912A>T (p.Lys304Asn)
c.1626A>T (p.Lys542Asn)
n.2422A>T
n.2630A>T
1g.197427795A>CCA344037588CRB1c.2470A>C (p.Ile824Leu)
c.1351A>C (p.Ile451Leu)
c.613A>C (p.Ile205Leu)
c.2134A>C (p.Ile712Leu)
n.371A>C
c.2263A>C (p.Ile755Leu)
c.2128+5839A>C (n.2128+5839A>C)
n.2471A>C
n.2679A>C
c.1888A>C (p.Ile630Leu)
c.913A>C (p.Ile305Leu)
c.1627A>C (p.Ile543Leu)
n.2423A>C
n.2631A>C
1g.197427795A>GCA344037591CRB1c.2470A>G (p.Ile824Val)
c.1351A>G (p.Ile451Val)
c.613A>G (p.Ile205Val)
c.2134A>G (p.Ile712Val)
n.371A>G
c.2263A>G (p.Ile755Val)
c.2128+5839A>G (n.2128+5839A>G)
n.2471A>G
n.2679A>G
c.1888A>G (p.Ile630Val)
c.913A>G (p.Ile305Val)
c.1627A>G (p.Ile543Val)
n.2423A>G
n.2631A>G
1g.197427795A>TCA344037595CRB1c.2470A>T (p.Ile824Phe)
c.1351A>T (p.Ile451Phe)
c.613A>T (p.Ile205Phe)
c.2134A>T (p.Ile712Phe)
n.371A>T
c.2263A>T (p.Ile755Phe)
c.2128+5839A>T (n.2128+5839A>T)
n.2471A>T
n.2679A>T
c.1888A>T (p.Ile630Phe)
c.913A>T (p.Ile305Phe)
c.1627A>T (p.Ile543Phe)
n.2423A>T
n.2631A>T
1g.197427796T>ACA344037599CRB1c.2471T>A (p.Ile824Asn)
c.1352T>A (p.Ile451Asn)
c.614T>A (p.Ile205Asn)
c.2135T>A (p.Ile712Asn)
n.372T>A
c.2264T>A (p.Ile755Asn)
c.2128+5840T>A (n.2128+5840T>A)
n.2472T>A
n.2680T>A
c.1889T>A (p.Ile630Asn)
c.914T>A (p.Ile305Asn)
c.1628T>A (p.Ile543Asn)
n.2424T>A
n.2632T>A
1g.197427796T>CCA344037603CRB1c.2471T>C (p.Ile824Thr)
c.1352T>C (p.Ile451Thr)
c.614T>C (p.Ile205Thr)
c.2135T>C (p.Ile712Thr)
n.372T>C
c.2264T>C (p.Ile755Thr)
c.2128+5840T>C (n.2128+5840T>C)
n.2472T>C
n.2680T>C
c.1889T>C (p.Ile630Thr)
c.914T>C (p.Ile305Thr)
c.1628T>C (p.Ile543Thr)
n.2424T>C
n.2632T>C
1g.197427796T>GCA344037605CRB1c.2471T>G (p.Ile824Ser)
c.1352T>G (p.Ile451Ser)
c.614T>G (p.Ile205Ser)
c.2135T>G (p.Ile712Ser)
n.372T>G
c.2264T>G (p.Ile755Ser)
c.2128+5840T>G (n.2128+5840T>G)
n.2472T>G
n.2680T>G
c.1889T>G (p.Ile630Ser)
c.914T>G (p.Ile305Ser)
c.1628T>G (p.Ile543Ser)
n.2424T>G
n.2632T>G
1g.197427797C>ACA422808797CRB1c.2472C>A (p.Ile824=)
c.1353C>A (p.Ile451=)
c.615C>A (p.Ile205=)
c.2136C>A (p.Ile712=)
n.373C>A
c.2265C>A (p.Ile755=)
c.2128+5841C>A (n.2128+5841C>A)
n.2473C>A
n.2681C>A
c.1890C>A (p.Ile630=)
c.915C>A (p.Ile305=)
c.1629C>A (p.Ile543=)
n.2425C>A
n.2633C>A
1g.197427797C=CA1218066281CRB1c.2472C= (p.Ile824=)
c.1353C= (p.Ile451=)
c.615C= (p.Ile205=)
c.2136C= (p.Ile712=)
n.373C=
c.2265C= (p.Ile755=)
c.2128+5841C= (n.2128+5841C=)
n.2473C=
n.2681C=
c.1890C= (p.Ile630=)
c.915C= (p.Ile305=)
c.1629C= (p.Ile543=)
n.2425C=
n.2633C=
1g.197427797C>GCA344037609CRB1c.2472C>G (p.Ile824Met)
c.1353C>G (p.Ile451Met)
c.615C>G (p.Ile205Met)
c.2136C>G (p.Ile712Met)
n.373C>G
c.2265C>G (p.Ile755Met)
c.2128+5841C>G (n.2128+5841C>G)
n.2473C>G
n.2681C>G
c.1890C>G (p.Ile630Met)
c.915C>G (p.Ile305Met)
c.1629C>G (p.Ile543Met)
n.2425C>G
n.2633C>G
 COSMIC
1g.197427797C>TCA1312124CRB1c.2472C>T (p.Ile824=)
c.1353C>T (p.Ile451=)
c.615C>T (p.Ile205=)
c.2136C>T (p.Ile712=)
n.373C>T
c.2265C>T (p.Ile755=)
c.2128+5841C>T (n.2128+5841C>T)
n.2473C>T
n.2681C>T
c.1890C>T (p.Ile630=)
c.915C>T (p.Ile305=)
c.1629C>T (p.Ile543=)
n.2425C>T
n.2633C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.197427798G>ACA1312125CRB1c.2473G>A (p.Glu825Lys)
c.1354G>A (p.Glu452Lys)
c.616G>A (p.Glu206Lys)
c.2137G>A (p.Glu713Lys)
n.374G>A
c.2266G>A (p.Glu756Lys)
c.2128+5842G>A (n.2128+5842G>A)
n.2474G>A
n.2682G>A
c.1891G>A (p.Glu631Lys)
c.916G>A (p.Glu306Lys)
c.1630G>A (p.Glu544Lys)
n.2426G>A
n.2634G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197427798G>CCA344037616CRB1c.2473G>C (p.Glu825Gln)
c.1354G>C (p.Glu452Gln)
c.616G>C (p.Glu206Gln)
c.2137G>C (p.Glu713Gln)
n.374G>C
c.2266G>C (p.Glu756Gln)
c.2128+5842G>C (n.2128+5842G>C)
n.2474G>C
n.2682G>C
c.1891G>C (p.Glu631Gln)
c.916G>C (p.Glu306Gln)
c.1630G>C (p.Glu544Gln)
n.2426G>C
n.2634G>C
1g.197427798G=CA1143578896CRB1c.2473G= (p.Glu825=)
c.1354G= (p.Glu452=)
c.616G= (p.Glu206=)
c.2137G= (p.Glu713=)
n.374G=
c.2266G= (p.Glu756=)
c.2128+5842G= (n.2128+5842G=)
n.2474G=
n.2682G=
c.1891G= (p.Glu631=)
c.916G= (p.Glu306=)
c.1630G= (p.Glu544=)
n.2426G=
n.2634G=
1g.197427798G>TCA344037620CRB1c.2473G>T (p.Glu825Ter)
c.1354G>T (p.Glu452Ter)
c.616G>T (p.Glu206Ter)
c.2137G>T (p.Glu713Ter)
n.374G>T
c.2266G>T (p.Glu756Ter)
c.2128+5842G>T (n.2128+5842G>T)
n.2474G>T
n.2682G>T
c.1891G>T (p.Glu631Ter)
c.916G>T (p.Glu306Ter)
c.1630G>T (p.Glu544Ter)
n.2426G>T
n.2634G>T
 COSMIC COSMIC
1g.197427799A=CA1218066285CRB1c.2474A= (p.Glu825=)
c.1355A= (p.Glu452=)
c.617A= (p.Glu206=)
c.2138A= (p.Glu713=)
n.375A=
c.2267A= (p.Glu756=)
c.2128+5843A= (n.2128+5843A=)
n.2475A=
n.2683A=
c.1892A= (p.Glu631=)
c.917A= (p.Glu306=)
c.1631A= (p.Glu544=)
n.2427A=
n.2635A=
1g.197427799A>CCA344037623CRB1c.2474A>C (p.Glu825Ala)
c.1355A>C (p.Glu452Ala)
c.617A>C (p.Glu206Ala)
c.2138A>C (p.Glu713Ala)
n.375A>C
c.2267A>C (p.Glu756Ala)
c.2128+5843A>C (n.2128+5843A>C)
n.2475A>C
n.2683A>C
c.1892A>C (p.Glu631Ala)
c.917A>C (p.Glu306Ala)
c.1631A>C (p.Glu544Ala)
n.2427A>C
n.2635A>C
1g.197427799A>GCA344037628CRB1c.2474A>G (p.Glu825Gly)
c.1355A>G (p.Glu452Gly)
c.617A>G (p.Glu206Gly)
c.2138A>G (p.Glu713Gly)
n.375A>G
c.2267A>G (p.Glu756Gly)
c.2128+5843A>G (n.2128+5843A>G)
n.2475A>G
n.2683A>G
c.1892A>G (p.Glu631Gly)
c.917A>G (p.Glu306Gly)
c.1631A>G (p.Glu544Gly)
n.2427A>G
n.2635A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197427799A>TCA344037631CRB1c.2474A>T (p.Glu825Val)
c.1355A>T (p.Glu452Val)
c.617A>T (p.Glu206Val)
c.2138A>T (p.Glu713Val)
n.375A>T
c.2267A>T (p.Glu756Val)
c.2128+5843A>T (n.2128+5843A>T)
n.2475A>T
n.2683A>T
c.1892A>T (p.Glu631Val)
c.917A>T (p.Glu306Val)
c.1631A>T (p.Glu544Val)
n.2427A>T
n.2635A>T
1g.197427800A>CCA344037635CRB1c.2475A>C (p.Glu825Asp)
c.1356A>C (p.Glu452Asp)
c.618A>C (p.Glu206Asp)
c.2139A>C (p.Glu713Asp)
n.376A>C
c.2268A>C (p.Glu756Asp)
c.2128+5844A>C (n.2128+5844A>C)
n.2476A>C
n.2684A>C
c.1893A>C (p.Glu631Asp)
c.918A>C (p.Glu306Asp)
c.1632A>C (p.Glu544Asp)
n.2428A>C
n.2636A>C
1g.197427800A>GCA422808801CRB1c.2475A>G (p.Glu825=)
c.1356A>G (p.Glu452=)
c.618A>G (p.Glu206=)
c.2139A>G (p.Glu713=)
n.376A>G
c.2268A>G (p.Glu756=)
c.2128+5844A>G (n.2128+5844A>G)
n.2476A>G
n.2684A>G
c.1893A>G (p.Glu631=)
c.918A>G (p.Glu306=)
c.1632A>G (p.Glu544=)
n.2428A>G
n.2636A>G
1g.197427800A>TCA344037637CRB1c.2475A>T (p.Glu825Asp)
c.1356A>T (p.Glu452Asp)
c.618A>T (p.Glu206Asp)
c.2139A>T (p.Glu713Asp)
n.376A>T
c.2268A>T (p.Glu756Asp)
c.2128+5844A>T (n.2128+5844A>T)
n.2476A>T
n.2684A>T
c.1893A>T (p.Glu631Asp)
c.918A>T (p.Glu306Asp)
c.1632A>T (p.Glu544Asp)
n.2428A>T
n.2636A>T
1g.197427801A>CCA344037641CRB1c.2476A>C (p.Lys826Gln)
c.1357A>C (p.Lys453Gln)
c.619A>C (p.Lys207Gln)
c.2140A>C (p.Lys714Gln)
n.377A>C
c.2269A>C (p.Lys757Gln)
c.2128+5845A>C (n.2128+5845A>C)
n.2477A>C
n.2685A>C
c.1894A>C (p.Lys632Gln)
c.919A>C (p.Lys307Gln)
c.1633A>C (p.Lys545Gln)
n.2429A>C
n.2637A>C
1g.197427801A>GCA344037644CRB1c.2476A>G (p.Lys826Glu)
c.1357A>G (p.Lys453Glu)
c.619A>G (p.Lys207Glu)
c.2140A>G (p.Lys714Glu)
n.377A>G
c.2269A>G (p.Lys757Glu)
c.2128+5845A>G (n.2128+5845A>G)
n.2477A>G
n.2685A>G
c.1894A>G (p.Lys632Glu)
c.919A>G (p.Lys307Glu)
c.1633A>G (p.Lys545Glu)
n.2429A>G
n.2637A>G
1g.197427801A>TCA344037645CRB1c.2476A>T (p.Lys826Ter)
c.1357A>T (p.Lys453Ter)
c.619A>T (p.Lys207Ter)
c.2140A>T (p.Lys714Ter)
n.377A>T
c.2269A>T (p.Lys757Ter)
c.2128+5845A>T (n.2128+5845A>T)
n.2477A>T
n.2685A>T
c.1894A>T (p.Lys632Ter)
c.919A>T (p.Lys307Ter)
c.1633A>T (p.Lys545Ter)
n.2429A>T
n.2637A>T
1g.197427802A>CCA344037650CRB1c.2477A>C (p.Lys826Thr)
c.1358A>C (p.Lys453Thr)
c.620A>C (p.Lys207Thr)
c.2141A>C (p.Lys714Thr)
n.378A>C
c.2270A>C (p.Lys757Thr)
c.2128+5846A>C (n.2128+5846A>C)
n.2478A>C
n.2686A>C
c.1895A>C (p.Lys632Thr)
c.920A>C (p.Lys307Thr)
c.1634A>C (p.Lys545Thr)
n.2430A>C
n.2638A>C
1g.197427802A>GCA344037651CRB1c.2477A>G (p.Lys826Arg)
c.1358A>G (p.Lys453Arg)
c.620A>G (p.Lys207Arg)
c.2141A>G (p.Lys714Arg)
n.378A>G
c.2270A>G (p.Lys757Arg)
c.2128+5846A>G (n.2128+5846A>G)
n.2478A>G
n.2686A>G
c.1895A>G (p.Lys632Arg)
c.920A>G (p.Lys307Arg)
c.1634A>G (p.Lys545Arg)
n.2430A>G
n.2638A>G
1g.197427802A>TCA344037654CRB1c.2477A>T (p.Lys826Met)
c.1358A>T (p.Lys453Met)
c.620A>T (p.Lys207Met)
c.2141A>T (p.Lys714Met)
n.378A>T
c.2270A>T (p.Lys757Met)
c.2128+5846A>T (n.2128+5846A>T)
n.2478A>T
n.2686A>T
c.1895A>T (p.Lys632Met)
c.920A>T (p.Lys307Met)
c.1634A>T (p.Lys545Met)
n.2430A>T
n.2638A>T
1g.197427803G>ACA422808806CRB1c.2478G>A (p.Lys826=)
c.1359G>A (p.Lys453=)
c.621G>A (p.Lys207=)
c.2142G>A (p.Lys714=)
n.379G>A
c.2271G>A (p.Lys757=)
c.2128+5847G>A (n.2128+5847G>A)
n.2479G>A
n.2687G>A
c.1896G>A (p.Lys632=)
c.921G>A (p.Lys307=)
c.1635G>A (p.Lys545=)
n.2431G>A
n.2639G>A
 ClinVar dbSNP gnomAD v4 COSMIC
1g.197427803G>CCA344037660CRB1c.2478G>C (p.Lys826Asn)
c.1359G>C (p.Lys453Asn)
c.621G>C (p.Lys207Asn)
c.2142G>C (p.Lys714Asn)
n.379G>C
c.2271G>C (p.Lys757Asn)
c.2128+5847G>C (n.2128+5847G>C)
n.2479G>C
n.2687G>C
c.1896G>C (p.Lys632Asn)
c.921G>C (p.Lys307Asn)
c.1635G>C (p.Lys545Asn)
n.2431G>C
n.2639G>C
 dbSNP
1g.197427803G=CA1218066288CRB1c.2478G= (p.Lys826=)
c.1359G= (p.Lys453=)
c.621G= (p.Lys207=)
c.2142G= (p.Lys714=)
n.379G=
c.2271G= (p.Lys757=)
c.2128+5847G= (n.2128+5847G=)
n.2479G=
n.2687G=
c.1896G= (p.Lys632=)
c.921G= (p.Lys307=)
c.1635G= (p.Lys545=)
n.2431G=
n.2639G=
1g.197427803G>TCA344037662CRB1c.2478G>T (p.Lys826Asn)
c.1359G>T (p.Lys453Asn)
c.621G>T (p.Lys207Asn)
c.2142G>T (p.Lys714Asn)
n.379G>T
c.2271G>T (p.Lys757Asn)
c.2128+5847G>T (n.2128+5847G>T)
n.2479G>T
n.2687G>T
c.1896G>T (p.Lys632Asn)
c.921G>T (p.Lys307Asn)
c.1635G>T (p.Lys545Asn)
n.2431G>T
n.2639G>T
1g.197427804G>ACA1312126CRB1c.2479G>A (p.Gly827Arg)
c.1360G>A (p.Gly454Arg)
c.622G>A (p.Gly208Arg)
c.2143G>A (p.Gly715Arg)
n.380G>A
c.2272G>A (p.Gly758Arg)
c.2128+5848G>A (n.2128+5848G>A)
n.2480G>A
n.2688G>A
c.1897G>A (p.Gly633Arg)
c.922G>A (p.Gly308Arg)
c.1636G>A (p.Gly546Arg)
n.2432G>A
n.2640G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427804G>CCA344037668CRB1c.2479G>C (p.Gly827Arg)
c.1360G>C (p.Gly454Arg)
c.622G>C (p.Gly208Arg)
c.2143G>C (p.Gly715Arg)
n.380G>C
c.2272G>C (p.Gly758Arg)
c.2128+5848G>C (n.2128+5848G>C)
n.2480G>C
n.2688G>C
c.1897G>C (p.Gly633Arg)
c.922G>C (p.Gly308Arg)
c.1636G>C (p.Gly546Arg)
n.2432G>C
n.2640G>C
1g.197427804G=CA1140762944CRB1c.2479G= (p.Gly827=)
c.1360G= (p.Gly454=)
c.622G= (p.Gly208=)
c.2143G= (p.Gly715=)
n.380G=
c.2272G= (p.Gly758=)
c.2128+5848G= (n.2128+5848G=)
n.2480G=
n.2688G=
c.1897G= (p.Gly633=)
c.922G= (p.Gly308=)
c.1636G= (p.Gly546=)
n.2432G=
n.2640G=
1g.197427804G>TCA228009CRB1c.2479G>T (p.Gly827Ter)
c.1360G>T (p.Gly454Ter)
c.622G>T (p.Gly208Ter)
c.2143G>T (p.Gly715Ter)
n.380G>T
c.2272G>T (p.Gly758Ter)
c.2128+5848G>T (n.2128+5848G>T)
n.2480G>T
n.2688G>T
c.1897G>T (p.Gly633Ter)
c.922G>T (p.Gly308Ter)
c.1636G>T (p.Gly546Ter)
n.2432G>T
n.2640G>T
 ClinVar dbSNP
1g.197427805G>ACA344037676CRB1c.2480G>A (p.Gly827Glu)
c.1361G>A (p.Gly454Glu)
c.623G>A (p.Gly208Glu)
c.2144G>A (p.Gly715Glu)
n.381G>A
c.2273G>A (p.Gly758Glu)
c.2128+5849G>A (n.2128+5849G>A)
n.2481G>A
n.2689G>A
c.1898G>A (p.Gly633Glu)
c.923G>A (p.Gly308Glu)
c.1637G>A (p.Gly546Glu)
n.2433G>A
n.2641G>A
 COSMIC COSMIC
1g.197427805G>CCA344037678CRB1c.2480G>C (p.Gly827Ala)
c.1361G>C (p.Gly454Ala)
c.623G>C (p.Gly208Ala)
c.2144G>C (p.Gly715Ala)
n.381G>C
c.2273G>C (p.Gly758Ala)
c.2128+5849G>C (n.2128+5849G>C)
n.2481G>C
n.2689G>C
c.1898G>C (p.Gly633Ala)
c.923G>C (p.Gly308Ala)
c.1637G>C (p.Gly546Ala)
n.2433G>C
n.2641G>C
 dbSNP
1g.197427805G=CA1218066291CRB1c.2480G= (p.Gly827=)
c.1361G= (p.Gly454=)
c.623G= (p.Gly208=)
c.2144G= (p.Gly715=)
n.381G=
c.2273G= (p.Gly758=)
c.2128+5849G= (n.2128+5849G=)
n.2481G=
n.2689G=
c.1898G= (p.Gly633=)
c.923G= (p.Gly308=)
c.1637G= (p.Gly546=)
n.2433G=
n.2641G=
1g.197427805G>TCA344037683CRB1c.2480G>T (p.Gly827Val)
c.1361G>T (p.Gly454Val)
c.623G>T (p.Gly208Val)
c.2144G>T (p.Gly715Val)
n.381G>T
c.2273G>T (p.Gly758Val)
c.2128+5849G>T (n.2128+5849G>T)
n.2481G>T
n.2689G>T
c.1898G>T (p.Gly633Val)
c.923G>T (p.Gly308Val)
c.1637G>T (p.Gly546Val)
n.2433G>T
n.2641G>T
 ClinVar dbSNP gnomAD v4
1g.197427806A>CCA422808811CRB1c.2481A>C (p.Gly827=)
c.1362A>C (p.Gly454=)
c.624A>C (p.Gly208=)
c.2145A>C (p.Gly715=)
n.382A>C
c.2274A>C (p.Gly758=)
c.2128+5850A>C (n.2128+5850A>C)
n.2482A>C
n.2690A>C
c.1899A>C (p.Gly633=)
c.924A>C (p.Gly308=)
c.1638A>C (p.Gly546=)
n.2434A>C
n.2642A>C
1g.197427806A>GCA422808809CRB1c.2481A>G (p.Gly827=)
c.1362A>G (p.Gly454=)
c.624A>G (p.Gly208=)
c.2145A>G (p.Gly715=)
n.382A>G
c.2274A>G (p.Gly758=)
c.2128+5850A>G (n.2128+5850A>G)
n.2482A>G
n.2690A>G
c.1899A>G (p.Gly633=)
c.924A>G (p.Gly308=)
c.1638A>G (p.Gly546=)
n.2434A>G
n.2642A>G
1g.197427806A>TCA422808810CRB1c.2481A>T (p.Gly827=)
c.1362A>T (p.Gly454=)
c.624A>T (p.Gly208=)
c.2145A>T (p.Gly715=)
n.382A>T
c.2274A>T (p.Gly758=)
c.2128+5850A>T (n.2128+5850A>T)
n.2482A>T
n.2690A>T
c.1899A>T (p.Gly633=)
c.924A>T (p.Gly308=)
c.1638A>T (p.Gly546=)
n.2434A>T
n.2642A>T
1g.197427807G>ACA344037687CRB1c.2482G>A (p.Asp828Asn)
c.1363G>A (p.Asp455Asn)
c.625G>A (p.Asp209Asn)
c.2146G>A (p.Asp716Asn)
n.383G>A
c.2275G>A (p.Asp759Asn)
c.2128+5851G>A (n.2128+5851G>A)
n.2483G>A
n.2691G>A
c.1900G>A (p.Asp634Asn)
c.925G>A (p.Asp309Asn)
c.1639G>A (p.Asp547Asn)
n.2435G>A
n.2643G>A
1g.197427807G>CCA344037688CRB1c.2482G>C (p.Asp828His)
c.1363G>C (p.Asp455His)
c.625G>C (p.Asp209His)
c.2146G>C (p.Asp716His)
n.383G>C
c.2275G>C (p.Asp759His)
c.2128+5851G>C (n.2128+5851G>C)
n.2483G>C
n.2691G>C
c.1900G>C (p.Asp634His)
c.925G>C (p.Asp309His)
c.1639G>C (p.Asp547His)
n.2435G>C
n.2643G>C
1g.197427807G>TCA344037692CRB1c.2482G>T (p.Asp828Tyr)
c.1363G>T (p.Asp455Tyr)
c.625G>T (p.Asp209Tyr)
c.2146G>T (p.Asp716Tyr)
n.383G>T
c.2275G>T (p.Asp759Tyr)
c.2128+5851G>T (n.2128+5851G>T)
n.2483G>T
n.2691G>T
c.1900G>T (p.Asp634Tyr)
c.925G>T (p.Asp309Tyr)
c.1639G>T (p.Asp547Tyr)
n.2435G>T
n.2643G>T
 gnomAD v4
1g.197427808A=CA1218066293CRB1c.2483A= (p.Asp828=)
c.1364A= (p.Asp455=)
c.626A= (p.Asp209=)
c.2147A= (p.Asp716=)
n.384A=
c.2276A= (p.Asp759=)
c.2128+5852A= (n.2128+5852A=)
n.2484A=
n.2692A=
c.1901A= (p.Asp634=)
c.926A= (p.Asp309=)
c.1640A= (p.Asp547=)
n.2436A=
n.2644A=
1g.197427808A>CCA1312127CRB1c.2483A>C (p.Asp828Ala)
c.1364A>C (p.Asp455Ala)
c.626A>C (p.Asp209Ala)
c.2147A>C (p.Asp716Ala)
n.384A>C
c.2276A>C (p.Asp759Ala)
c.2128+5852A>C (n.2128+5852A>C)
n.2484A>C
n.2692A>C
c.1901A>C (p.Asp634Ala)
c.926A>C (p.Asp309Ala)
c.1640A>C (p.Asp547Ala)
n.2436A>C
n.2644A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427808A>GCA344037697CRB1c.2483A>G (p.Asp828Gly)
c.1364A>G (p.Asp455Gly)
c.626A>G (p.Asp209Gly)
c.2147A>G (p.Asp716Gly)
n.384A>G
c.2276A>G (p.Asp759Gly)
c.2128+5852A>G (n.2128+5852A>G)
n.2484A>G
n.2692A>G
c.1901A>G (p.Asp634Gly)
c.926A>G (p.Asp309Gly)
c.1640A>G (p.Asp547Gly)
n.2436A>G
n.2644A>G
1g.197427808A>TCA344037700CRB1c.2483A>T (p.Asp828Val)
c.1364A>T (p.Asp455Val)
c.626A>T (p.Asp209Val)
c.2147A>T (p.Asp716Val)
n.384A>T
c.2276A>T (p.Asp759Val)
c.2128+5852A>T (n.2128+5852A>T)
n.2484A>T
n.2692A>T
c.1901A>T (p.Asp634Val)
c.926A>T (p.Asp309Val)
c.1640A>T (p.Asp547Val)
n.2436A>T
n.2644A>T
1g.197427809T>ACA344037708CRB1c.2484T>A (p.Asp828Glu)
c.1365T>A (p.Asp455Glu)
c.627T>A (p.Asp209Glu)
c.2148T>A (p.Asp716Glu)
n.385T>A
c.2277T>A (p.Asp759Glu)
c.2128+5853T>A (n.2128+5853T>A)
n.2485T>A
n.2693T>A
c.1902T>A (p.Asp634Glu)
c.927T>A (p.Asp309Glu)
c.1641T>A (p.Asp547Glu)
n.2437T>A
n.2645T>A
1g.197427809T>CCA422808816CRB1c.2484T>C (p.Asp828=)
c.1365T>C (p.Asp455=)
c.627T>C (p.Asp209=)
c.2148T>C (p.Asp716=)
n.385T>C
c.2277T>C (p.Asp759=)
c.2128+5853T>C (n.2128+5853T>C)
n.2485T>C
n.2693T>C
c.1902T>C (p.Asp634=)
c.927T>C (p.Asp309=)
c.1641T>C (p.Asp547=)
n.2437T>C
n.2645T>C
 gnomAD v4
1g.197427809T>GCA344037705CRB1c.2484T>G (p.Asp828Glu)
c.1365T>G (p.Asp455Glu)
c.627T>G (p.Asp209Glu)
c.2148T>G (p.Asp716Glu)
n.385T>G
c.2277T>G (p.Asp759Glu)
c.2128+5853T>G (n.2128+5853T>G)
n.2485T>G
n.2693T>G
c.1902T>G (p.Asp634Glu)
c.927T>G (p.Asp309Glu)
c.1641T>G (p.Asp547Glu)
n.2437T>G
n.2645T>G
 gnomAD v4
1g.197427810G>ACA344037711CRB1c.2485G>A (p.Val829Ile)
c.1366G>A (p.Val456Ile)
c.628G>A (p.Val210Ile)
c.2149G>A (p.Val717Ile)
n.386G>A
c.2278G>A (p.Val760Ile)
c.2128+5854G>A (n.2128+5854G>A)
n.2486G>A
n.2694G>A
c.1903G>A (p.Val635Ile)
c.928G>A (p.Val310Ile)
c.1642G>A (p.Val548Ile)
n.2438G>A
n.2646G>A
1g.197427810G>CCA344037714CRB1c.2485G>C (p.Val829Leu)
c.1366G>C (p.Val456Leu)
c.628G>C (p.Val210Leu)
c.2149G>C (p.Val717Leu)
n.386G>C
c.2278G>C (p.Val760Leu)
c.2128+5854G>C (n.2128+5854G>C)
n.2486G>C
n.2694G>C
c.1903G>C (p.Val635Leu)
c.928G>C (p.Val310Leu)
c.1642G>C (p.Val548Leu)
n.2438G>C
n.2646G>C
1g.197427810G>TCA344037717CRB1c.2485G>T (p.Val829Phe)
c.1366G>T (p.Val456Phe)
c.628G>T (p.Val210Phe)
c.2149G>T (p.Val717Phe)
n.386G>T
c.2278G>T (p.Val760Phe)
c.2128+5854G>T (n.2128+5854G>T)
n.2486G>T
n.2694G>T
c.1903G>T (p.Val635Phe)
c.928G>T (p.Val310Phe)
c.1642G>T (p.Val548Phe)
n.2438G>T
n.2646G>T
1g.197427811T>ACA344037721CRB1c.2486T>A (p.Val829Asp)
c.1367T>A (p.Val456Asp)
c.629T>A (p.Val210Asp)
c.2150T>A (p.Val717Asp)
n.387T>A
c.2279T>A (p.Val760Asp)
c.2128+5855T>A (n.2128+5855T>A)
n.2487T>A
n.2695T>A
c.1904T>A (p.Val635Asp)
c.929T>A (p.Val310Asp)
c.1643T>A (p.Val548Asp)
n.2439T>A
n.2647T>A
 ClinVar dbSNP
1g.197427811T>CCA344037723CRB1c.2486T>C (p.Val829Ala)
c.1367T>C (p.Val456Ala)
c.629T>C (p.Val210Ala)
c.2150T>C (p.Val717Ala)
n.387T>C
c.2279T>C (p.Val760Ala)
c.2128+5855T>C (n.2128+5855T>C)
n.2487T>C
n.2695T>C
c.1904T>C (p.Val635Ala)
c.929T>C (p.Val310Ala)
c.1643T>C (p.Val548Ala)
n.2439T>C
n.2647T>C
1g.197427811T>GCA344037725CRB1c.2486T>G (p.Val829Gly)
c.1367T>G (p.Val456Gly)
c.629T>G (p.Val210Gly)
c.2150T>G (p.Val717Gly)
n.387T>G
c.2279T>G (p.Val760Gly)
c.2128+5855T>G (n.2128+5855T>G)
n.2487T>G
n.2695T>G
c.1904T>G (p.Val635Gly)
c.929T>G (p.Val310Gly)
c.1643T>G (p.Val548Gly)
n.2439T>G
n.2647T>G
1g.197427811T=CA1218066297CRB1c.2486T= (p.Val829=)
c.1367T= (p.Val456=)
c.629T= (p.Val210=)
c.2150T= (p.Val717=)
n.387T=
c.2279T= (p.Val760=)
c.2128+5855T= (n.2128+5855T=)
n.2487T=
n.2695T=
c.1904T= (p.Val635=)
c.929T= (p.Val310=)
c.1643T= (p.Val548=)
n.2439T=
n.2647T=
1g.197427812C>ACA422808825CRB1c.2487C>A (p.Val829=)
c.1368C>A (p.Val456=)
c.630C>A (p.Val210=)
c.2151C>A (p.Val717=)
n.388C>A
c.2280C>A (p.Val760=)
c.2128+5856C>A (n.2128+5856C>A)
n.2488C>A
n.2696C>A
c.1905C>A (p.Val635=)
c.930C>A (p.Val310=)
c.1644C>A (p.Val548=)
n.2440C>A
n.2648C>A
 gnomAD v4
1g.197427812C>GCA422808823CRB1c.2487C>G (p.Val829=)
c.1368C>G (p.Val456=)
c.630C>G (p.Val210=)
c.2151C>G (p.Val717=)
n.388C>G
c.2280C>G (p.Val760=)
c.2128+5856C>G (n.2128+5856C>G)
n.2488C>G
n.2696C>G
c.1905C>G (p.Val635=)
c.930C>G (p.Val310=)
c.1644C>G (p.Val548=)
n.2440C>G
n.2648C>G
1g.197427812C>TCA422808824CRB1c.2487C>T (p.Val829=)
c.1368C>T (p.Val456=)
c.630C>T (p.Val210=)
c.2151C>T (p.Val717=)
n.388C>T
c.2280C>T (p.Val760=)
c.2128+5856C>T (n.2128+5856C>T)
n.2488C>T
n.2696C>T
c.1905C>T (p.Val635=)
c.930C>T (p.Val310=)
c.1644C>T (p.Val548=)
n.2440C>T
n.2648C>T
 ClinVar
1g.197427813A=CA1218066303CRB1c.2488A= (p.Ile830=)
c.1369A= (p.Ile457=)
c.631A= (p.Ile211=)
c.2152A= (p.Ile718=)
n.389A=
c.2281A= (p.Ile761=)
c.2128+5857A= (n.2128+5857A=)
n.2489A=
n.2697A=
c.1906A= (p.Ile636=)
c.931A= (p.Ile311=)
c.1645A= (p.Ile549=)
n.2441A=
n.2649A=
1g.197427813A>CCA344037730CRB1c.2488A>C (p.Ile830Leu)
c.1369A>C (p.Ile457Leu)
c.631A>C (p.Ile211Leu)
c.2152A>C (p.Ile718Leu)
n.389A>C
c.2281A>C (p.Ile761Leu)
c.2128+5857A>C (n.2128+5857A>C)
n.2489A>C
n.2697A>C
c.1906A>C (p.Ile636Leu)
c.931A>C (p.Ile311Leu)
c.1645A>C (p.Ile549Leu)
n.2441A>C
n.2649A>C
1g.197427813A>GCA344037729CRB1c.2488A>G (p.Ile830Val)
c.1369A>G (p.Ile457Val)
c.631A>G (p.Ile211Val)
c.2152A>G (p.Ile718Val)
n.389A>G
c.2281A>G (p.Ile761Val)
c.2128+5857A>G (n.2128+5857A>G)
n.2489A>G
n.2697A>G
c.1906A>G (p.Ile636Val)
c.931A>G (p.Ile311Val)
c.1645A>G (p.Ile549Val)
n.2441A>G
n.2649A>G
 dbSNP
1g.197427813A>TCA1312128CRB1c.2488A>T (p.Ile830Phe)
c.1369A>T (p.Ile457Phe)
c.631A>T (p.Ile211Phe)
c.2152A>T (p.Ile718Phe)
n.389A>T
c.2281A>T (p.Ile761Phe)
c.2128+5857A>T (n.2128+5857A>T)
n.2489A>T
n.2697A>T
c.1906A>T (p.Ile636Phe)
c.931A>T (p.Ile311Phe)
c.1645A>T (p.Ile549Phe)
n.2441A>T
n.2649A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427814T>ACA344037732CRB1c.2489T>A (p.Ile830Asn)
c.1370T>A (p.Ile457Asn)
c.632T>A (p.Ile211Asn)
c.2153T>A (p.Ile718Asn)
n.390T>A
c.2282T>A (p.Ile761Asn)
c.2128+5858T>A (n.2128+5858T>A)
n.2490T>A
n.2698T>A
c.1907T>A (p.Ile636Asn)
c.932T>A (p.Ile311Asn)
c.1646T>A (p.Ile549Asn)
n.2442T>A
n.2650T>A
 ClinVar dbSNP
1g.197427814T>CCA344037733CRB1c.2489T>C (p.Ile830Thr)
c.1370T>C (p.Ile457Thr)
c.632T>C (p.Ile211Thr)
c.2153T>C (p.Ile718Thr)
n.390T>C
c.2282T>C (p.Ile761Thr)
c.2128+5858T>C (n.2128+5858T>C)
n.2490T>C
n.2698T>C
c.1907T>C (p.Ile636Thr)
c.932T>C (p.Ile311Thr)
c.1646T>C (p.Ile549Thr)
n.2442T>C
n.2650T>C
1g.197427814T>GCA344037735CRB1c.2489T>G (p.Ile830Ser)
c.1370T>G (p.Ile457Ser)
c.632T>G (p.Ile211Ser)
c.2153T>G (p.Ile718Ser)
n.390T>G
c.2282T>G (p.Ile761Ser)
c.2128+5858T>G (n.2128+5858T>G)
n.2490T>G
n.2698T>G
c.1907T>G (p.Ile636Ser)
c.932T>G (p.Ile311Ser)
c.1646T>G (p.Ile549Ser)
n.2442T>G
n.2650T>G
1g.197427815C>ACA422808828CRB1c.2490C>A (p.Ile830=)
c.1371C>A (p.Ile457=)
c.633C>A (p.Ile211=)
c.2154C>A (p.Ile718=)
n.391C>A
c.2283C>A (p.Ile761=)
c.2128+5859C>A (n.2128+5859C>A)
n.2491C>A
n.2699C>A
c.1908C>A (p.Ile636=)
c.933C>A (p.Ile311=)
c.1647C>A (p.Ile549=)
n.2443C>A
n.2651C>A
1g.197427815C>GCA344037738CRB1c.2490C>G (p.Ile830Met)
c.1371C>G (p.Ile457Met)
c.633C>G (p.Ile211Met)
c.2154C>G (p.Ile718Met)
n.391C>G
c.2283C>G (p.Ile761Met)
c.2128+5859C>G (n.2128+5859C>G)
n.2491C>G
n.2699C>G
c.1908C>G (p.Ile636Met)
c.933C>G (p.Ile311Met)
c.1647C>G (p.Ile549Met)
n.2443C>G
n.2651C>G
 dbSNP COSMIC COSMIC
1g.197427815C>TCA422808830CRB1c.2490C>T (p.Ile830=)
c.1371C>T (p.Ile457=)
c.633C>T (p.Ile211=)
c.2154C>T (p.Ile718=)
n.391C>T
c.2283C>T (p.Ile761=)
c.2128+5859C>T (n.2128+5859C>T)
n.2491C>T
n.2699C>T
c.1908C>T (p.Ile636=)
c.933C>T (p.Ile311=)
c.1647C>T (p.Ile549=)
n.2443C>T
n.2651C>T
1g.197427816T>ACA344037743CRB1c.2491T>A (p.Tyr831Asn)
c.1372T>A (p.Tyr458Asn)
c.634T>A (p.Tyr212Asn)
c.2155T>A (p.Tyr719Asn)
n.392T>A
c.2284T>A (p.Tyr762Asn)
c.2128+5860T>A (n.2128+5860T>A)
n.2492T>A
n.2700T>A
c.1909T>A (p.Tyr637Asn)
c.934T>A (p.Tyr312Asn)
c.1648T>A (p.Tyr550Asn)
n.2444T>A
n.2652T>A
1g.197427816T>CCA344037746CRB1c.2491T>C (p.Tyr831His)
c.1372T>C (p.Tyr458His)
c.634T>C (p.Tyr212His)
c.2155T>C (p.Tyr719His)
n.392T>C
c.2284T>C (p.Tyr762His)
c.2128+5860T>C (n.2128+5860T>C)
n.2492T>C
n.2700T>C
c.1909T>C (p.Tyr637His)
c.934T>C (p.Tyr312His)
c.1648T>C (p.Tyr550His)
n.2444T>C
n.2652T>C
 dbSNP gnomAD v4
1g.197427816T>GCA344037748CRB1c.2491T>G (p.Tyr831Asp)
c.1372T>G (p.Tyr458Asp)
c.634T>G (p.Tyr212Asp)
c.2155T>G (p.Tyr719Asp)
n.392T>G
c.2284T>G (p.Tyr762Asp)
c.2128+5860T>G (n.2128+5860T>G)
n.2492T>G
n.2700T>G
c.1909T>G (p.Tyr637Asp)
c.934T>G (p.Tyr312Asp)
c.1648T>G (p.Tyr550Asp)
n.2444T>G
n.2652T>G
1g.197427816T=CA1218066305CRB1c.2491T= (p.Tyr831=)
c.1372T= (p.Tyr458=)
c.634T= (p.Tyr212=)
c.2155T= (p.Tyr719=)
n.392T=
c.2284T= (p.Tyr762=)
c.2128+5860T= (n.2128+5860T=)
n.2492T=
n.2700T=
c.1909T= (p.Tyr637=)
c.934T= (p.Tyr312=)
c.1648T= (p.Tyr550=)
n.2444T=
n.2652T=
1g.197427817A>CCA344037751CRB1c.2492A>C (p.Tyr831Ser)
c.1373A>C (p.Tyr458Ser)
c.635A>C (p.Tyr212Ser)
c.2156A>C (p.Tyr719Ser)
n.393A>C
c.2285A>C (p.Tyr762Ser)
c.2128+5861A>C (n.2128+5861A>C)
n.2493A>C
n.2701A>C
c.1910A>C (p.Tyr637Ser)
c.935A>C (p.Tyr312Ser)
c.1649A>C (p.Tyr550Ser)
n.2445A>C
n.2653A>C
1g.197427817A>GCA344037753CRB1c.2492A>G (p.Tyr831Cys)
c.1373A>G (p.Tyr458Cys)
c.635A>G (p.Tyr212Cys)
c.2156A>G (p.Tyr719Cys)
n.393A>G
c.2285A>G (p.Tyr762Cys)
c.2128+5861A>G (n.2128+5861A>G)
n.2493A>G
n.2701A>G
c.1910A>G (p.Tyr637Cys)
c.935A>G (p.Tyr312Cys)
c.1649A>G (p.Tyr550Cys)
n.2445A>G
n.2653A>G
1g.197427817A>TCA344037752CRB1c.2492A>T (p.Tyr831Phe)
c.1373A>T (p.Tyr458Phe)
c.635A>T (p.Tyr212Phe)
c.2156A>T (p.Tyr719Phe)
n.393A>T
c.2285A>T (p.Tyr762Phe)
c.2128+5861A>T (n.2128+5861A>T)
n.2493A>T
n.2701A>T
c.1910A>T (p.Tyr637Phe)
c.935A>T (p.Tyr312Phe)
c.1649A>T (p.Tyr550Phe)
n.2445A>T
n.2653A>T
1g.197427818C>ACA344037754CRB1c.2493C>A (p.Tyr831Ter)
c.1374C>A (p.Tyr458Ter)
c.636C>A (p.Tyr212Ter)
c.2157C>A (p.Tyr719Ter)
n.394C>A
c.2286C>A (p.Tyr762Ter)
c.2128+5862C>A (n.2128+5862C>A)
n.2494C>A
n.2702C>A
c.1911C>A (p.Tyr637Ter)
c.936C>A (p.Tyr312Ter)
c.1650C>A (p.Tyr550Ter)
n.2446C>A
n.2654C>A
1g.197427818C>GCA344037756CRB1c.2493C>G (p.Tyr831Ter)
c.1374C>G (p.Tyr458Ter)
c.636C>G (p.Tyr212Ter)
c.2157C>G (p.Tyr719Ter)
n.394C>G
c.2286C>G (p.Tyr762Ter)
c.2128+5862C>G (n.2128+5862C>G)
n.2494C>G
n.2702C>G
c.1911C>G (p.Tyr637Ter)
c.936C>G (p.Tyr312Ter)
c.1650C>G (p.Tyr550Ter)
n.2446C>G
n.2654C>G
1g.197427818C>TCA422808834CRB1c.2493C>T (p.Tyr831=)
c.1374C>T (p.Tyr458=)
c.636C>T (p.Tyr212=)
c.2157C>T (p.Tyr719=)
n.394C>T
c.2286C>T (p.Tyr762=)
c.2128+5862C>T (n.2128+5862C>T)
n.2494C>T
n.2702C>T
c.1911C>T (p.Tyr637=)
c.936C>T (p.Tyr312=)
c.1650C>T (p.Tyr550=)
n.2446C>T
n.2654C>T
 ClinVar dbSNP gnomAD v4
1g.197427819A>CCA344037759CRB1c.2494A>C (p.Ile832Leu)
c.1375A>C (p.Ile459Leu)
c.637A>C (p.Ile213Leu)
c.2158A>C (p.Ile720Leu)
n.395A>C
c.2287A>C (p.Ile763Leu)
c.2128+5863A>C (n.2128+5863A>C)
n.2495A>C
n.2703A>C
c.1912A>C (p.Ile638Leu)
c.937A>C (p.Ile313Leu)
c.1651A>C (p.Ile551Leu)
n.2447A>C
n.2655A>C
 gnomAD v4
1g.197427819A>GCA344037760CRB1c.2494A>G (p.Ile832Val)
c.1375A>G (p.Ile459Val)
c.637A>G (p.Ile213Val)
c.2158A>G (p.Ile720Val)
n.395A>G
c.2287A>G (p.Ile763Val)
c.2128+5863A>G (n.2128+5863A>G)
n.2495A>G
n.2703A>G
c.1912A>G (p.Ile638Val)
c.937A>G (p.Ile313Val)
c.1651A>G (p.Ile551Val)
n.2447A>G
n.2655A>G
 gnomAD v4
1g.197427819A>TCA344037762CRB1c.2494A>T (p.Ile832Phe)
c.1375A>T (p.Ile459Phe)
c.637A>T (p.Ile213Phe)
c.2158A>T (p.Ile720Phe)
n.395A>T
c.2287A>T (p.Ile763Phe)
c.2128+5863A>T (n.2128+5863A>T)
n.2495A>T
n.2703A>T
c.1912A>T (p.Ile638Phe)
c.937A>T (p.Ile313Phe)
c.1651A>T (p.Ile551Phe)
n.2447A>T
n.2655A>T
1g.197427820T>ACA344037763CRB1c.2495T>A (p.Ile832Asn)
c.1376T>A (p.Ile459Asn)
c.638T>A (p.Ile213Asn)
c.2159T>A (p.Ile720Asn)
n.396T>A
c.2288T>A (p.Ile763Asn)
c.2128+5864T>A (n.2128+5864T>A)
n.2496T>A
n.2704T>A
c.1913T>A (p.Ile638Asn)
c.938T>A (p.Ile313Asn)
c.1652T>A (p.Ile551Asn)
n.2448T>A
n.2656T>A
1g.197427820T>CCA344037770CRB1c.2495T>C (p.Ile832Thr)
c.1376T>C (p.Ile459Thr)
c.638T>C (p.Ile213Thr)
c.2159T>C (p.Ile720Thr)
n.396T>C
c.2288T>C (p.Ile763Thr)
c.2128+5864T>C (n.2128+5864T>C)
n.2496T>C
n.2704T>C
c.1913T>C (p.Ile638Thr)
c.938T>C (p.Ile313Thr)
c.1652T>C (p.Ile551Thr)
n.2448T>C
n.2656T>C
 gnomAD v4
1g.197427820T>GCA344037773CRB1c.2495T>G (p.Ile832Ser)
c.1376T>G (p.Ile459Ser)
c.638T>G (p.Ile213Ser)
c.2159T>G (p.Ile720Ser)
n.396T>G
c.2288T>G (p.Ile763Ser)
c.2128+5864T>G (n.2128+5864T>G)
n.2496T>G
n.2704T>G
c.1913T>G (p.Ile638Ser)
c.938T>G (p.Ile313Ser)
c.1652T>G (p.Ile551Ser)
n.2448T>G
n.2656T>G
1g.197427821T>ACA422808838CRB1c.2496T>A (p.Ile832=)
c.1377T>A (p.Ile459=)
c.639T>A (p.Ile213=)
c.2160T>A (p.Ile720=)
n.397T>A
c.2289T>A (p.Ile763=)
c.2128+5865T>A (n.2128+5865T>A)
n.2497T>A
n.2705T>A
c.1914T>A (p.Ile638=)
c.939T>A (p.Ile313=)
c.1653T>A (p.Ile551=)
n.2449T>A
n.2657T>A
1g.197427821T>CCA422808839CRB1c.2496T>C (p.Ile832=)
c.1377T>C (p.Ile459=)
c.639T>C (p.Ile213=)
c.2160T>C (p.Ile720=)
n.397T>C
c.2289T>C (p.Ile763=)
c.2128+5865T>C (n.2128+5865T>C)
n.2497T>C
n.2705T>C
c.1914T>C (p.Ile638=)
c.939T>C (p.Ile313=)
c.1653T>C (p.Ile551=)
n.2449T>C
n.2657T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427821T>GCA344037776CRB1c.2496T>G (p.Ile832Met)
c.1377T>G (p.Ile459Met)
c.639T>G (p.Ile213Met)
c.2160T>G (p.Ile720Met)
n.397T>G
c.2289T>G (p.Ile763Met)
c.2128+5865T>G (n.2128+5865T>G)
n.2497T>G
n.2705T>G
c.1914T>G (p.Ile638Met)
c.939T>G (p.Ile313Met)
c.1653T>G (p.Ile551Met)
n.2449T>G
n.2657T>G
1g.197427821T=CA1218066307CRB1c.2496T= (p.Ile832=)
c.1377T= (p.Ile459=)
c.639T= (p.Ile213=)
c.2160T= (p.Ile720=)
n.397T=
c.2289T= (p.Ile763=)
c.2128+5865T= (n.2128+5865T=)
n.2497T=
n.2705T=
c.1914T= (p.Ile638=)
c.939T= (p.Ile313=)
c.1653T= (p.Ile551=)
n.2449T=
n.2657T=
1g.197427822G>ACA344037779CRB1c.2497G>A (p.Gly833Ser)
c.1378G>A (p.Gly460Ser)
c.640G>A (p.Gly214Ser)
c.2161G>A (p.Gly721Ser)
n.398G>A
c.2290G>A (p.Gly764Ser)
c.2128+5866G>A (n.2128+5866G>A)
n.2498G>A
n.2706G>A
c.1915G>A (p.Gly639Ser)
c.940G>A (p.Gly314Ser)
c.1654G>A (p.Gly552Ser)
n.2450G>A
n.2658G>A
1g.197427822G>CCA344037792CRB1c.2497G>C (p.Gly833Arg)
c.1378G>C (p.Gly460Arg)
c.640G>C (p.Gly214Arg)
c.2161G>C (p.Gly721Arg)
n.398G>C
c.2290G>C (p.Gly764Arg)
c.2128+5866G>C (n.2128+5866G>C)
n.2498G>C
n.2706G>C
c.1915G>C (p.Gly639Arg)
c.940G>C (p.Gly314Arg)
c.1654G>C (p.Gly552Arg)
n.2450G>C
n.2658G>C
 ClinVar dbSNP gnomAD v4
1g.197427822G=CA1218066309CRB1c.2497G= (p.Gly833=)
c.1378G= (p.Gly460=)
c.640G= (p.Gly214=)
c.2161G= (p.Gly721=)
n.398G=
c.2290G= (p.Gly764=)
c.2128+5866G= (n.2128+5866G=)
n.2498G=
n.2706G=
c.1915G= (p.Gly639=)
c.940G= (p.Gly314=)
c.1654G= (p.Gly552=)
n.2450G=
n.2658G=
1g.197427822G>TCA344037794CRB1c.2497G>T (p.Gly833Cys)
c.1378G>T (p.Gly460Cys)
c.640G>T (p.Gly214Cys)
c.2161G>T (p.Gly721Cys)
n.398G>T
c.2290G>T (p.Gly764Cys)
c.2128+5866G>T (n.2128+5866G>T)
n.2498G>T
n.2706G>T
c.1915G>T (p.Gly639Cys)
c.940G>T (p.Gly314Cys)
c.1654G>T (p.Gly552Cys)
n.2450G>T
n.2658G>T
 ClinVar dbSNP COSMIC COSMIC
1g.197427823G>ACA344037805CRB1c.2498G>A (p.Gly833Asp)
c.1379G>A (p.Gly460Asp)
c.641G>A (p.Gly214Asp)
c.2162G>A (p.Gly721Asp)
n.399G>A
c.2291G>A (p.Gly764Asp)
c.2128+5867G>A (n.2128+5867G>A)
n.2499G>A
n.2707G>A
c.1916G>A (p.Gly639Asp)
c.941G>A (p.Gly314Asp)
c.1655G>A (p.Gly552Asp)
n.2451G>A
n.2659G>A
 ClinVar dbSNP
1g.197427823G>CCA344037798CRB1c.2498G>C (p.Gly833Ala)
c.1379G>C (p.Gly460Ala)
c.641G>C (p.Gly214Ala)
c.2162G>C (p.Gly721Ala)
n.399G>C
c.2291G>C (p.Gly764Ala)
c.2128+5867G>C (n.2128+5867G>C)
n.2499G>C
n.2707G>C
c.1916G>C (p.Gly639Ala)
c.941G>C (p.Gly314Ala)
c.1655G>C (p.Gly552Ala)
n.2451G>C
n.2659G>C
1g.197427823G=CA1218066313CRB1c.2498G= (p.Gly833=)
c.1379G= (p.Gly460=)
c.641G= (p.Gly214=)
c.2162G= (p.Gly721=)
n.399G=
c.2291G= (p.Gly764=)
c.2128+5867G= (n.2128+5867G=)
n.2499G=
n.2707G=
c.1916G= (p.Gly639=)
c.941G= (p.Gly314=)
c.1655G= (p.Gly552=)
n.2451G=
n.2659G=
1g.197427823G>TCA344037803CRB1c.2498G>T (p.Gly833Val)
c.1379G>T (p.Gly460Val)
c.641G>T (p.Gly214Val)
c.2162G>T (p.Gly721Val)
n.399G>T
c.2291G>T (p.Gly764Val)
c.2128+5867G>T (n.2128+5867G>T)
n.2499G>T
n.2707G>T
c.1916G>T (p.Gly639Val)
c.941G>T (p.Gly314Val)
c.1655G>T (p.Gly552Val)
n.2451G>T
n.2659G>T
1g.197427824T>ACA422808841CRB1c.2499T>A (p.Gly833=)
c.1380T>A (p.Gly460=)
c.642T>A (p.Gly214=)
c.2163T>A (p.Gly721=)
n.400T>A
c.2292T>A (p.Gly764=)
c.2128+5868T>A (n.2128+5868T>A)
n.2500T>A
n.2708T>A
c.1917T>A (p.Gly639=)
c.942T>A (p.Gly314=)
c.1656T>A (p.Gly552=)
n.2452T>A
n.2660T>A
1g.197427824T>CCA422808842CRB1c.2499T>C (p.Gly833=)
c.1380T>C (p.Gly460=)
c.642T>C (p.Gly214=)
c.2163T>C (p.Gly721=)
n.400T>C
c.2292T>C (p.Gly764=)
c.2128+5868T>C (n.2128+5868T>C)
n.2500T>C
n.2708T>C
c.1917T>C (p.Gly639=)
c.942T>C (p.Gly314=)
c.1656T>C (p.Gly552=)
n.2452T>C
n.2660T>C
1g.197427824T>GCA422808843CRB1c.2499T>G (p.Gly833=)
c.1380T>G (p.Gly460=)
c.642T>G (p.Gly214=)
c.2163T>G (p.Gly721=)
n.400T>G
c.2292T>G (p.Gly764=)
c.2128+5868T>G (n.2128+5868T>G)
n.2500T>G
n.2708T>G
c.1917T>G (p.Gly639=)
c.942T>G (p.Gly314=)
c.1656T>G (p.Gly552=)
n.2452T>G
n.2660T>G
1g.197427825G>ACA344037808CRB1c.2500G>A (p.Gly834Ser)
c.1381G>A (p.Gly461Ser)
c.643G>A (p.Gly215Ser)
c.2164G>A (p.Gly722Ser)
n.401G>A
c.2293G>A (p.Gly765Ser)
c.2128+5869G>A (n.2128+5869G>A)
n.2501G>A
n.2709G>A
c.1918G>A (p.Gly640Ser)
c.943G>A (p.Gly315Ser)
c.1657G>A (p.Gly553Ser)
n.2453G>A
n.2661G>A
 gnomAD v4
1g.197427825G>CCA344037811CRB1c.2500G>C (p.Gly834Arg)
c.1381G>C (p.Gly461Arg)
c.643G>C (p.Gly215Arg)
c.2164G>C (p.Gly722Arg)
n.401G>C
c.2293G>C (p.Gly765Arg)
c.2128+5869G>C (n.2128+5869G>C)
n.2501G>C
n.2709G>C
c.1918G>C (p.Gly640Arg)
c.943G>C (p.Gly315Arg)
c.1657G>C (p.Gly553Arg)
n.2453G>C
n.2661G>C
1g.197427825G>TCA344037826CRB1c.2500G>T (p.Gly834Cys)
c.1381G>T (p.Gly461Cys)
c.643G>T (p.Gly215Cys)
c.2164G>T (p.Gly722Cys)
n.401G>T
c.2293G>T (p.Gly765Cys)
c.2128+5869G>T (n.2128+5869G>T)
n.2501G>T
n.2709G>T
c.1918G>T (p.Gly640Cys)
c.943G>T (p.Gly315Cys)
c.1657G>T (p.Gly553Cys)
n.2453G>T
n.2661G>T
1g.197427826G>ACA344037829CRB1c.2501G>A (p.Gly834Asp)
c.1382G>A (p.Gly461Asp)
c.644G>A (p.Gly215Asp)
c.2165G>A (p.Gly722Asp)
n.402G>A
c.2294G>A (p.Gly765Asp)
c.2128+5870G>A (n.2128+5870G>A)
n.2502G>A
n.2710G>A
c.1919G>A (p.Gly640Asp)
c.944G>A (p.Gly315Asp)
c.1658G>A (p.Gly553Asp)
n.2454G>A
n.2662G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197427826G>CCA344037832CRB1c.2501G>C (p.Gly834Ala)
c.1382G>C (p.Gly461Ala)
c.644G>C (p.Gly215Ala)
c.2165G>C (p.Gly722Ala)
n.402G>C
c.2294G>C (p.Gly765Ala)
c.2128+5870G>C (n.2128+5870G>C)
n.2502G>C
n.2710G>C
c.1919G>C (p.Gly640Ala)
c.944G>C (p.Gly315Ala)
c.1658G>C (p.Gly553Ala)
n.2454G>C
n.2662G>C
1g.197427826G=CA1218066318CRB1c.2501G= (p.Gly834=)
c.1382G= (p.Gly461=)
c.644G= (p.Gly215=)
c.2165G= (p.Gly722=)
n.402G=
c.2294G= (p.Gly765=)
c.2128+5870G= (n.2128+5870G=)
n.2502G=
n.2710G=
c.1919G= (p.Gly640=)
c.944G= (p.Gly315=)
c.1658G= (p.Gly553=)
n.2454G=
n.2662G=
1g.197427826G>TCA344037834CRB1c.2501G>T (p.Gly834Val)
c.1382G>T (p.Gly461Val)
c.644G>T (p.Gly215Val)
c.2165G>T (p.Gly722Val)
n.402G>T
c.2294G>T (p.Gly765Val)
c.2128+5870G>T (n.2128+5870G>T)
n.2502G>T
n.2710G>T
c.1919G>T (p.Gly640Val)
c.944G>T (p.Gly315Val)
c.1658G>T (p.Gly553Val)
n.2454G>T
n.2662G>T
1g.197427826_197427830delinsGCCTACA1218066319CRB1c.2501_2505delinsGCCTA (p.Gly834=)
c.1382_1386delinsGCCTA (p.Gly461=)
c.644_648delinsGCCTA (p.Gly215=)
c.2165_2169delinsGCCTA (p.Gly722=)
n.402_406delinsGCCTA
c.2294_2298delinsGCCTA (p.Gly765=)
c.2128+5870_2128+5874delinsGCCTA (n.2128+5870_2128+5874delinsGCCTA)
n.2502_2506delinsGCCTA
n.2710_2714delinsGCCTA
c.1919_1923delinsGCCTA (p.Gly640=)
c.944_948delinsGCCTA (p.Gly315=)
c.1658_1662delinsGCCTA (p.Gly553=)
n.2454_2458delinsGCCTA
n.2662_2666delinsGCCTA
1g.197427827C>ACA422808844CRB1c.2502C>A (p.Gly834=)
c.1383C>A (p.Gly461=)
c.645C>A (p.Gly215=)
c.2166C>A (p.Gly722=)
n.403C>A
c.2295C>A (p.Gly765=)
c.2128+5871C>A (n.2128+5871C>A)
n.2503C>A
n.2711C>A
c.1920C>A (p.Gly640=)
c.945C>A (p.Gly315=)
c.1659C>A (p.Gly553=)
n.2455C>A
n.2663C>A
1g.197427827C>GCA422808846CRB1c.2502C>G (p.Gly834=)
c.1383C>G (p.Gly461=)
c.645C>G (p.Gly215=)
c.2166C>G (p.Gly722=)
n.403C>G
c.2295C>G (p.Gly765=)
c.2128+5871C>G (n.2128+5871C>G)
n.2503C>G
n.2711C>G
c.1920C>G (p.Gly640=)
c.945C>G (p.Gly315=)
c.1659C>G (p.Gly553=)
n.2455C>G
n.2663C>G
1g.197427827C>TCA422808847CRB1c.2502C>T (p.Gly834=)
c.1383C>T (p.Gly461=)
c.645C>T (p.Gly215=)
c.2166C>T (p.Gly722=)
n.403C>T
c.2295C>T (p.Gly765=)
c.2128+5871C>T (n.2128+5871C>T)
n.2503C>T
n.2711C>T
c.1920C>T (p.Gly640=)
c.945C>T (p.Gly315=)
c.1659C>T (p.Gly553=)
n.2455C>T
n.2663C>T
 gnomAD v4
1g.197427830_197427833delCA1312129CRB1c.2505_2508del (p.Pro836ThrfsTer19)
c.1386_1389del (p.Pro463ThrfsTer19)
c.648_651del (p.Pro217ThrfsTer19)
c.2169_2172del (p.Pro724ThrfsTer19)
n.406_409del
c.2298_2301del (p.Pro767ThrfsTer19)
c.2128+5874_2128+5877del (n.2128+5874_2128+5877del)
n.2506_2509del
n.2714_2717del
c.1923_1926del (p.Pro642ThrfsTer19)
c.948_951del (p.Pro317ThrfsTer19)
c.1662_1665del (p.Pro555ThrfsTer19)
n.2458_2461del
n.2666_2669del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427828C>ACA344037846CRB1c.2503C>A (p.Leu835Ile)
c.1384C>A (p.Leu462Ile)
c.646C>A (p.Leu216Ile)
c.2167C>A (p.Leu723Ile)
n.404C>A
c.2296C>A (p.Leu766Ile)
c.2128+5872C>A (n.2128+5872C>A)
n.2504C>A
n.2712C>A
c.1921C>A (p.Leu641Ile)
c.946C>A (p.Leu316Ile)
c.1660C>A (p.Leu554Ile)
n.2456C>A
n.2664C>A
1g.197427828C>GCA344037843CRB1c.2503C>G (p.Leu835Val)
c.1384C>G (p.Leu462Val)
c.646C>G (p.Leu216Val)
c.2167C>G (p.Leu723Val)
n.404C>G
c.2296C>G (p.Leu766Val)
c.2128+5872C>G (n.2128+5872C>G)
n.2504C>G
n.2712C>G
c.1921C>G (p.Leu641Val)
c.946C>G (p.Leu316Val)
c.1660C>G (p.Leu554Val)
n.2456C>G
n.2664C>G
1g.197427828C>TCA422808851CRB1c.2503C>T (p.Leu835=)
c.1384C>T (p.Leu462=)
c.646C>T (p.Leu216=)
c.2167C>T (p.Leu723=)
n.404C>T
c.2296C>T (p.Leu766=)
c.2128+5872C>T (n.2128+5872C>T)
n.2504C>T
n.2712C>T
c.1921C>T (p.Leu641=)
c.946C>T (p.Leu316=)
c.1660C>T (p.Leu554=)
n.2456C>T
n.2664C>T
1g.197427829T>ACA344037848CRB1c.2504T>A (p.Leu835Gln)
c.1385T>A (p.Leu462Gln)
c.647T>A (p.Leu216Gln)
c.2168T>A (p.Leu723Gln)
n.405T>A
c.2297T>A (p.Leu766Gln)
c.2128+5873T>A (n.2128+5873T>A)
n.2505T>A
n.2713T>A
c.1922T>A (p.Leu641Gln)
c.947T>A (p.Leu316Gln)
c.1661T>A (p.Leu554Gln)
n.2457T>A
n.2665T>A
1g.197427829T>CCA344037851CRB1c.2504T>C (p.Leu835Pro)
c.1385T>C (p.Leu462Pro)
c.647T>C (p.Leu216Pro)
c.2168T>C (p.Leu723Pro)
n.405T>C
c.2297T>C (p.Leu766Pro)
c.2128+5873T>C (n.2128+5873T>C)
n.2505T>C
n.2713T>C
c.1922T>C (p.Leu641Pro)
c.947T>C (p.Leu316Pro)
c.1661T>C (p.Leu554Pro)
n.2457T>C
n.2665T>C
 gnomAD v4
1g.197427829T>GCA344037854CRB1c.2504T>G (p.Leu835Arg)
c.1385T>G (p.Leu462Arg)
c.647T>G (p.Leu216Arg)
c.2168T>G (p.Leu723Arg)
n.405T>G
c.2297T>G (p.Leu766Arg)
c.2128+5873T>G (n.2128+5873T>G)
n.2505T>G
n.2713T>G
c.1922T>G (p.Leu641Arg)
c.947T>G (p.Leu316Arg)
c.1661T>G (p.Leu554Arg)
n.2457T>G
n.2665T>G
1g.197427830A=CA1218066322CRB1c.2505A= (p.Leu835=)
c.1386A= (p.Leu462=)
c.648A= (p.Leu216=)
c.2169A= (p.Leu723=)
n.406A=
c.2298A= (p.Leu766=)
c.2128+5874A= (n.2128+5874A=)
n.2506A=
n.2714A=
c.1923A= (p.Leu641=)
c.948A= (p.Leu316=)
c.1662A= (p.Leu554=)
n.2458A=
n.2666A=
1g.197427830A>CCA422808854CRB1c.2505A>C (p.Leu835=)
c.1386A>C (p.Leu462=)
c.648A>C (p.Leu216=)
c.2169A>C (p.Leu723=)
n.406A>C
c.2298A>C (p.Leu766=)
c.2128+5874A>C (n.2128+5874A>C)
n.2506A>C
n.2714A>C
c.1923A>C (p.Leu641=)
c.948A>C (p.Leu316=)
c.1662A>C (p.Leu554=)
n.2458A>C
n.2666A>C
1g.197427830A>GCA422808855CRB1c.2505A>G (p.Leu835=)
c.1386A>G (p.Leu462=)
c.648A>G (p.Leu216=)
c.2169A>G (p.Leu723=)
n.406A>G
c.2298A>G (p.Leu766=)
c.2128+5874A>G (n.2128+5874A>G)
n.2506A>G
n.2714A>G
c.1923A>G (p.Leu641=)
c.948A>G (p.Leu316=)
c.1662A>G (p.Leu554=)
n.2458A>G
n.2666A>G
 ClinVar dbSNP gnomAD v4
1g.197427830A>TCA422808856CRB1c.2505A>T (p.Leu835=)
c.1386A>T (p.Leu462=)
c.648A>T (p.Leu216=)
c.2169A>T (p.Leu723=)
n.406A>T
c.2298A>T (p.Leu766=)
c.2128+5874A>T (n.2128+5874A>T)
n.2506A>T
n.2714A>T
c.1923A>T (p.Leu641=)
c.948A>T (p.Leu316=)
c.1662A>T (p.Leu554=)
n.2458A>T
n.2666A>T
1g.197427831C>ACA1312130CRB1c.2506C>A (p.Pro836Thr)
c.1387C>A (p.Pro463Thr)
c.649C>A (p.Pro217Thr)
c.2170C>A (p.Pro724Thr)
n.407C>A
c.2299C>A (p.Pro767Thr)
c.2128+5875C>A (n.2128+5875C>A)
n.2507C>A
n.2715C>A
c.1924C>A (p.Pro642Thr)
c.949C>A (p.Pro317Thr)
c.1663C>A (p.Pro555Thr)
n.2459C>A
n.2667C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427831C=CA1141533191CRB1c.2506C= (p.Pro836=)
c.1387C= (p.Pro463=)
c.649C= (p.Pro217=)
c.2170C= (p.Pro724=)
n.407C=
c.2299C= (p.Pro767=)
c.2128+5875C= (n.2128+5875C=)
n.2507C=
n.2715C=
c.1924C= (p.Pro642=)
c.949C= (p.Pro317=)
c.1663C= (p.Pro555=)
n.2459C=
n.2667C=
1g.197427831C>GCA344037858CRB1c.2506C>G (p.Pro836Ala)
c.1387C>G (p.Pro463Ala)
c.649C>G (p.Pro217Ala)
c.2170C>G (p.Pro724Ala)
n.407C>G
c.2299C>G (p.Pro767Ala)
c.2128+5875C>G (n.2128+5875C>G)
n.2507C>G
n.2715C>G
c.1924C>G (p.Pro642Ala)
c.949C>G (p.Pro317Ala)
c.1663C>G (p.Pro555Ala)
n.2459C>G
n.2667C>G
1g.197427831C>TCA344037860CRB1c.2506C>T (p.Pro836Ser)
c.1387C>T (p.Pro463Ser)
c.649C>T (p.Pro217Ser)
c.2170C>T (p.Pro724Ser)
n.407C>T
c.2299C>T (p.Pro767Ser)
c.2128+5875C>T (n.2128+5875C>T)
n.2507C>T
n.2715C>T
c.1924C>T (p.Pro642Ser)
c.949C>T (p.Pro317Ser)
c.1663C>T (p.Pro555Ser)
n.2459C>T
n.2667C>T
1g.197427832C>ACA344037864CRB1c.2507C>A (p.Pro836His)
c.1388C>A (p.Pro463His)
c.650C>A (p.Pro217His)
c.2171C>A (p.Pro724His)
n.408C>A
c.2300C>A (p.Pro767His)
c.2128+5876C>A (n.2128+5876C>A)
n.2508C>A
n.2716C>A
c.1925C>A (p.Pro642His)
c.950C>A (p.Pro317His)
c.1664C>A (p.Pro555His)
n.2460C>A
n.2668C>A
1g.197427832C>GCA344037869CRB1c.2507C>G (p.Pro836Arg)
c.1388C>G (p.Pro463Arg)
c.650C>G (p.Pro217Arg)
c.2171C>G (p.Pro724Arg)
n.408C>G
c.2300C>G (p.Pro767Arg)
c.2128+5876C>G (n.2128+5876C>G)
n.2508C>G
n.2716C>G
c.1925C>G (p.Pro642Arg)
c.950C>G (p.Pro317Arg)
c.1664C>G (p.Pro555Arg)
n.2460C>G
n.2668C>G
1g.197427832C>TCA344037867CRB1c.2507C>T (p.Pro836Leu)
c.1388C>T (p.Pro463Leu)
c.650C>T (p.Pro217Leu)
c.2171C>T (p.Pro724Leu)
n.408C>T
c.2300C>T (p.Pro767Leu)
c.2128+5876C>T (n.2128+5876C>T)
n.2508C>T
n.2716C>T
c.1925C>T (p.Pro642Leu)
c.950C>T (p.Pro317Leu)
c.1664C>T (p.Pro555Leu)
n.2460C>T
n.2668C>T
1g.197427833T>ACA422808861CRB1c.2508T>A (p.Pro836=)
c.1389T>A (p.Pro463=)
c.651T>A (p.Pro217=)
c.2172T>A (p.Pro724=)
n.409T>A
c.2301T>A (p.Pro767=)
c.2128+5877T>A (n.2128+5877T>A)
n.2509T>A
n.2717T>A
c.1926T>A (p.Pro642=)
c.951T>A (p.Pro317=)
c.1665T>A (p.Pro555=)
n.2461T>A
n.2669T>A
 dbSNP
1g.197427833T>CCA422808863CRB1c.2508T>C (p.Pro836=)
c.1389T>C (p.Pro463=)
c.651T>C (p.Pro217=)
c.2172T>C (p.Pro724=)
n.409T>C
c.2301T>C (p.Pro767=)
c.2128+5877T>C (n.2128+5877T>C)
n.2509T>C
n.2717T>C
c.1926T>C (p.Pro642=)
c.951T>C (p.Pro317=)
c.1665T>C (p.Pro555=)
n.2461T>C
n.2669T>C
1g.197427833T>GCA422808862CRB1c.2508T>G (p.Pro836=)
c.1389T>G (p.Pro463=)
c.651T>G (p.Pro217=)
c.2172T>G (p.Pro724=)
n.409T>G
c.2301T>G (p.Pro767=)
c.2128+5877T>G (n.2128+5877T>G)
n.2509T>G
n.2717T>G
c.1926T>G (p.Pro642=)
c.951T>G (p.Pro317=)
c.1665T>G (p.Pro555=)
n.2461T>G
n.2669T>G
1g.197427834G>ACA344037870CRB1c.2509G>A (p.Asp837Asn)
c.1390G>A (p.Asp464Asn)
c.652G>A (p.Asp218Asn)
c.2173G>A (p.Asp725Asn)
n.410G>A
c.2302G>A (p.Asp768Asn)
c.2128+5878G>A (n.2128+5878G>A)
n.2510G>A
n.2718G>A
c.1927G>A (p.Asp643Asn)
c.952G>A (p.Asp318Asn)
c.1666G>A (p.Asp556Asn)
n.2462G>A
n.2670G>A
1g.197427834G>CCA228011CRB1c.2509G>C (p.Asp837His)
c.1390G>C (p.Asp464His)
c.652G>C (p.Asp218His)
c.2173G>C (p.Asp725His)
n.410G>C
c.2302G>C (p.Asp768His)
c.2128+5878G>C (n.2128+5878G>C)
n.2510G>C
n.2718G>C
c.1927G>C (p.Asp643His)
c.952G>C (p.Asp318His)
c.1666G>C (p.Asp556His)
n.2462G>C
n.2670G>C
 ClinVar dbSNP gnomAD v4
1g.197427834G=CA1140762945CRB1c.2509G= (p.Asp837=)
c.1390G= (p.Asp464=)
c.652G= (p.Asp218=)
c.2173G= (p.Asp725=)
n.410G=
c.2302G= (p.Asp768=)
c.2128+5878G= (n.2128+5878G=)
n.2510G=
n.2718G=
c.1927G= (p.Asp643=)
c.952G= (p.Asp318=)
c.1666G= (p.Asp556=)
n.2462G=
n.2670G=
1g.197427834G>TCA344037873CRB1c.2509G>T (p.Asp837Tyr)
c.1390G>T (p.Asp464Tyr)
c.652G>T (p.Asp218Tyr)
c.2173G>T (p.Asp725Tyr)
n.410G>T
c.2302G>T (p.Asp768Tyr)
c.2128+5878G>T (n.2128+5878G>T)
n.2510G>T
n.2718G>T
c.1927G>T (p.Asp643Tyr)
c.952G>T (p.Asp318Tyr)
c.1666G>T (p.Asp556Tyr)
n.2462G>T
n.2670G>T
1g.197427835A>CCA344037874CRB1c.2510A>C (p.Asp837Ala)
c.1391A>C (p.Asp464Ala)
c.653A>C (p.Asp218Ala)
c.2174A>C (p.Asp725Ala)
n.411A>C
c.2303A>C (p.Asp768Ala)
c.2128+5879A>C (n.2128+5879A>C)
n.2511A>C
n.2719A>C
c.1928A>C (p.Asp643Ala)
c.953A>C (p.Asp318Ala)
c.1667A>C (p.Asp556Ala)
n.2463A>C
n.2671A>C
1g.197427835A>GCA344037876CRB1c.2510A>G (p.Asp837Gly)
c.1391A>G (p.Asp464Gly)
c.653A>G (p.Asp218Gly)
c.2174A>G (p.Asp725Gly)
n.411A>G
c.2303A>G (p.Asp768Gly)
c.2128+5879A>G (n.2128+5879A>G)
n.2511A>G
n.2719A>G
c.1928A>G (p.Asp643Gly)
c.953A>G (p.Asp318Gly)
c.1667A>G (p.Asp556Gly)
n.2463A>G
n.2671A>G
1g.197427835A>TCA344037879CRB1c.2510A>T (p.Asp837Val)
c.1391A>T (p.Asp464Val)
c.653A>T (p.Asp218Val)
c.2174A>T (p.Asp725Val)
n.411A>T
c.2303A>T (p.Asp768Val)
c.2128+5879A>T (n.2128+5879A>T)
n.2511A>T
n.2719A>T
c.1928A>T (p.Asp643Val)
c.953A>T (p.Asp318Val)
c.1667A>T (p.Asp556Val)
n.2463A>T
n.2671A>T
1g.197427836C>ACA344037895CRB1c.2511C>A (p.Asp837Glu)
c.1392C>A (p.Asp464Glu)
c.654C>A (p.Asp218Glu)
c.2175C>A (p.Asp725Glu)
n.412C>A
c.2304C>A (p.Asp768Glu)
c.2128+5880C>A (n.2128+5880C>A)
n.2512C>A
n.2720C>A
c.1929C>A (p.Asp643Glu)
c.954C>A (p.Asp318Glu)
c.1668C>A (p.Asp556Glu)
n.2464C>A
n.2672C>A
 gnomAD v4
1g.197427836C=CA1218066329CRB1c.2511C= (p.Asp837=)
c.1392C= (p.Asp464=)
c.654C= (p.Asp218=)
c.2175C= (p.Asp725=)
n.412C=
c.2304C= (p.Asp768=)
c.2128+5880C= (n.2128+5880C=)
n.2512C=
n.2720C=
c.1929C= (p.Asp643=)
c.954C= (p.Asp318=)
c.1668C= (p.Asp556=)
n.2464C=
n.2672C=
1g.197427836C>GCA344037897CRB1c.2511C>G (p.Asp837Glu)
c.1392C>G (p.Asp464Glu)
c.654C>G (p.Asp218Glu)
c.2175C>G (p.Asp725Glu)
n.412C>G
c.2304C>G (p.Asp768Glu)
c.2128+5880C>G (n.2128+5880C>G)
n.2512C>G
n.2720C>G
c.1929C>G (p.Asp643Glu)
c.954C>G (p.Asp318Glu)
c.1668C>G (p.Asp556Glu)
n.2464C>G
n.2672C>G
 dbSNP gnomAD v2 gnomAD v4
1g.197427836C>TCA422808864CRB1c.2511C>T (p.Asp837=)
c.1392C>T (p.Asp464=)
c.654C>T (p.Asp218=)
c.2175C>T (p.Asp725=)
n.412C>T
c.2304C>T (p.Asp768=)
c.2128+5880C>T (n.2128+5880C>T)
n.2512C>T
n.2720C>T
c.1929C>T (p.Asp643=)
c.954C>T (p.Asp318=)
c.1668C>T (p.Asp556=)
n.2464C>T
n.2672C>T

Number of alleles fetched