Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197427600A=CA1218066057CRB1c.2275A= (p.Thr759=)
c.1156A= (p.Thr386=)
c.418A= (p.Thr140=)
c.1939A= (p.Thr647=)
n.176A=
c.2068A= (p.Thr690=)
c.2128+5644A= (n.2128+5644A=)
n.2276A=
n.2484A=
c.1693A= (p.Thr565=)
c.718A= (p.Thr240=)
c.1432A= (p.Thr478=)
n.2228A=
n.2436A=
1g.197427600A>CCA344036875CRB1c.2275A>C (p.Thr759Pro)
c.1156A>C (p.Thr386Pro)
c.418A>C (p.Thr140Pro)
c.1939A>C (p.Thr647Pro)
n.176A>C
c.2068A>C (p.Thr690Pro)
c.2128+5644A>C (n.2128+5644A>C)
n.2276A>C
n.2484A>C
c.1693A>C (p.Thr565Pro)
c.718A>C (p.Thr240Pro)
c.1432A>C (p.Thr478Pro)
n.2228A>C
n.2436A>C
1g.197427600A>GCA344036876CRB1c.2275A>G (p.Thr759Ala)
c.1156A>G (p.Thr386Ala)
c.418A>G (p.Thr140Ala)
c.1939A>G (p.Thr647Ala)
n.176A>G
c.2068A>G (p.Thr690Ala)
c.2128+5644A>G (n.2128+5644A>G)
n.2276A>G
n.2484A>G
c.1693A>G (p.Thr565Ala)
c.718A>G (p.Thr240Ala)
c.1432A>G (p.Thr478Ala)
n.2228A>G
n.2436A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197427600A>TCA344036877CRB1c.2275A>T (p.Thr759Ser)
c.1156A>T (p.Thr386Ser)
c.418A>T (p.Thr140Ser)
c.1939A>T (p.Thr647Ser)
n.176A>T
c.2068A>T (p.Thr690Ser)
c.2128+5644A>T (n.2128+5644A>T)
n.2276A>T
n.2484A>T
c.1693A>T (p.Thr565Ser)
c.718A>T (p.Thr240Ser)
c.1432A>T (p.Thr478Ser)
n.2228A>T
n.2436A>T
1g.197427601_197427604dupCA2586964516CRB1c.2276_2279dup (p.Gln761LeufsTer30)
c.1157_1160dup (p.Gln388LeufsTer30)
c.419_422dup (p.Gln142LeufsTer30)
c.1940_1943dup (p.Gln649LeufsTer30)
n.177_180dup
c.2069_2072dup (p.Gln692LeufsTer30)
c.2128+5645_2128+5648dup (n.2128+5645_2128+5648dup)
n.2277_2280dup
n.2485_2488dup
c.1694_1697dup (p.Gln567LeufsTer30)
c.719_722dup (p.Gln242LeufsTer30)
c.1433_1436dup (p.Gln480LeufsTer30)
n.2229_2232dup
n.2437_2440dup
1g.197427601C>ACA344036878CRB1c.2276C>A (p.Thr759Asn)
c.1157C>A (p.Thr386Asn)
c.419C>A (p.Thr140Asn)
c.1940C>A (p.Thr647Asn)
n.177C>A
c.2069C>A (p.Thr690Asn)
c.2128+5645C>A (n.2128+5645C>A)
n.2277C>A
n.2485C>A
c.1694C>A (p.Thr565Asn)
c.719C>A (p.Thr240Asn)
c.1433C>A (p.Thr478Asn)
n.2229C>A
n.2437C>A
1g.197427601C>GCA344036879CRB1c.2276C>G (p.Thr759Ser)
c.1157C>G (p.Thr386Ser)
c.419C>G (p.Thr140Ser)
c.1940C>G (p.Thr647Ser)
n.177C>G
c.2069C>G (p.Thr690Ser)
c.2128+5645C>G (n.2128+5645C>G)
n.2277C>G
n.2485C>G
c.1694C>G (p.Thr565Ser)
c.719C>G (p.Thr240Ser)
c.1433C>G (p.Thr478Ser)
n.2229C>G
n.2437C>G
1g.197427601C>TCA344036880CRB1c.2276C>T (p.Thr759Ile)
c.1157C>T (p.Thr386Ile)
c.419C>T (p.Thr140Ile)
c.1940C>T (p.Thr647Ile)
n.177C>T
c.2069C>T (p.Thr690Ile)
c.2128+5645C>T (n.2128+5645C>T)
n.2277C>T
n.2485C>T
c.1694C>T (p.Thr565Ile)
c.719C>T (p.Thr240Ile)
c.1433C>T (p.Thr478Ile)
n.2229C>T
n.2437C>T
1g.197427602T>ACA422809031CRB1c.2277T>A (p.Thr759=)
c.1158T>A (p.Thr386=)
c.420T>A (p.Thr140=)
c.1941T>A (p.Thr647=)
n.178T>A
c.2070T>A (p.Thr690=)
c.2128+5646T>A (n.2128+5646T>A)
n.2278T>A
n.2486T>A
c.1695T>A (p.Thr565=)
c.720T>A (p.Thr240=)
c.1434T>A (p.Thr478=)
n.2230T>A
n.2438T>A
1g.197427602T>CCA422809033CRB1c.2277T>C (p.Thr759=)
c.1158T>C (p.Thr386=)
c.420T>C (p.Thr140=)
c.1941T>C (p.Thr647=)
n.178T>C
c.2070T>C (p.Thr690=)
c.2128+5646T>C (n.2128+5646T>C)
n.2278T>C
n.2486T>C
c.1695T>C (p.Thr565=)
c.720T>C (p.Thr240=)
c.1434T>C (p.Thr478=)
n.2230T>C
n.2438T>C
 ClinVar dbSNP gnomAD v4
1g.197427602T>GCA422809034CRB1c.2277T>G (p.Thr759=)
c.1158T>G (p.Thr386=)
c.420T>G (p.Thr140=)
c.1941T>G (p.Thr647=)
n.178T>G
c.2070T>G (p.Thr690=)
c.2128+5646T>G (n.2128+5646T>G)
n.2278T>G
n.2486T>G
c.1695T>G (p.Thr565=)
c.720T>G (p.Thr240=)
c.1434T>G (p.Thr478=)
n.2230T>G
n.2438T>G
1g.197427603T>ACA344036881CRB1c.2278T>A (p.Tyr760Asn)
c.1159T>A (p.Tyr387Asn)
c.421T>A (p.Tyr141Asn)
c.1942T>A (p.Tyr648Asn)
n.179T>A
c.2071T>A (p.Tyr691Asn)
c.2128+5647T>A (n.2128+5647T>A)
n.2279T>A
n.2487T>A
c.1696T>A (p.Tyr566Asn)
c.721T>A (p.Tyr241Asn)
c.1435T>A (p.Tyr479Asn)
n.2231T>A
n.2439T>A
 ClinVar dbSNP
1g.197427603T>CCA344036883CRB1c.2278T>C (p.Tyr760His)
c.1159T>C (p.Tyr387His)
c.421T>C (p.Tyr141His)
c.1942T>C (p.Tyr648His)
n.179T>C
c.2071T>C (p.Tyr691His)
c.2128+5647T>C (n.2128+5647T>C)
n.2279T>C
n.2487T>C
c.1696T>C (p.Tyr566His)
c.721T>C (p.Tyr241His)
c.1435T>C (p.Tyr479His)
n.2231T>C
n.2439T>C
 gnomAD v4
1g.197427603T>GCA344036882CRB1c.2278T>G (p.Tyr760Asp)
c.1159T>G (p.Tyr387Asp)
c.421T>G (p.Tyr141Asp)
c.1942T>G (p.Tyr648Asp)
n.179T>G
c.2071T>G (p.Tyr691Asp)
c.2128+5647T>G (n.2128+5647T>G)
n.2279T>G
n.2487T>G
c.1696T>G (p.Tyr566Asp)
c.721T>G (p.Tyr241Asp)
c.1435T>G (p.Tyr479Asp)
n.2231T>G
n.2439T>G
1g.197427604A=CA1218066059CRB1c.2279A= (p.Tyr760=)
c.1160A= (p.Tyr387=)
c.422A= (p.Tyr141=)
c.1943A= (p.Tyr648=)
n.180A=
c.2072A= (p.Tyr691=)
c.2128+5648A= (n.2128+5648A=)
n.2280A=
n.2488A=
c.1697A= (p.Tyr566=)
c.722A= (p.Tyr241=)
c.1436A= (p.Tyr479=)
n.2232A=
n.2440A=
1g.197427604A>CCA344036884CRB1c.2279A>C (p.Tyr760Ser)
c.1160A>C (p.Tyr387Ser)
c.422A>C (p.Tyr141Ser)
c.1943A>C (p.Tyr648Ser)
n.180A>C
c.2072A>C (p.Tyr691Ser)
c.2128+5648A>C (n.2128+5648A>C)
n.2280A>C
n.2488A>C
c.1697A>C (p.Tyr566Ser)
c.722A>C (p.Tyr241Ser)
c.1436A>C (p.Tyr479Ser)
n.2232A>C
n.2440A>C
1g.197427604A>GCA1312089CRB1c.2279A>G (p.Tyr760Cys)
c.1160A>G (p.Tyr387Cys)
c.422A>G (p.Tyr141Cys)
c.1943A>G (p.Tyr648Cys)
n.180A>G
c.2072A>G (p.Tyr691Cys)
c.2128+5648A>G (n.2128+5648A>G)
n.2280A>G
n.2488A>G
c.1697A>G (p.Tyr566Cys)
c.722A>G (p.Tyr241Cys)
c.1436A>G (p.Tyr479Cys)
n.2232A>G
n.2440A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427604A>TCA344036885CRB1c.2279A>T (p.Tyr760Phe)
c.1160A>T (p.Tyr387Phe)
c.422A>T (p.Tyr141Phe)
c.1943A>T (p.Tyr648Phe)
n.180A>T
c.2072A>T (p.Tyr691Phe)
c.2128+5648A>T (n.2128+5648A>T)
n.2280A>T
n.2488A>T
c.1697A>T (p.Tyr566Phe)
c.722A>T (p.Tyr241Phe)
c.1436A>T (p.Tyr479Phe)
n.2232A>T
n.2440A>T
1g.197427605T>ACA344036886CRB1c.2280T>A (p.Tyr760Ter)
c.1161T>A (p.Tyr387Ter)
c.423T>A (p.Tyr141Ter)
c.1944T>A (p.Tyr648Ter)
n.181T>A
c.2073T>A (p.Tyr691Ter)
c.2128+5649T>A (n.2128+5649T>A)
n.2281T>A
n.2489T>A
c.1698T>A (p.Tyr566Ter)
c.723T>A (p.Tyr241Ter)
c.1437T>A (p.Tyr479Ter)
n.2233T>A
n.2441T>A
1g.197427605T>CCA422809041CRB1c.2280T>C (p.Tyr760=)
c.1161T>C (p.Tyr387=)
c.423T>C (p.Tyr141=)
c.1944T>C (p.Tyr648=)
n.181T>C
c.2073T>C (p.Tyr691=)
c.2128+5649T>C (n.2128+5649T>C)
n.2281T>C
n.2489T>C
c.1698T>C (p.Tyr566=)
c.723T>C (p.Tyr241=)
c.1437T>C (p.Tyr479=)
n.2233T>C
n.2441T>C
 ClinVar gnomAD v4
1g.197427605T>GCA344036887CRB1c.2280T>G (p.Tyr760Ter)
c.1161T>G (p.Tyr387Ter)
c.423T>G (p.Tyr141Ter)
c.1944T>G (p.Tyr648Ter)
n.181T>G
c.2073T>G (p.Tyr691Ter)
c.2128+5649T>G (n.2128+5649T>G)
n.2281T>G
n.2489T>G
c.1698T>G (p.Tyr566Ter)
c.723T>G (p.Tyr241Ter)
c.1437T>G (p.Tyr479Ter)
n.2233T>G
n.2441T>G
1g.197427606C>ACA344036888CRB1c.2281C>A (p.Gln761Lys)
c.1162C>A (p.Gln388Lys)
c.424C>A (p.Gln142Lys)
c.1945C>A (p.Gln649Lys)
n.182C>A
c.2074C>A (p.Gln692Lys)
c.2128+5650C>A (n.2128+5650C>A)
n.2282C>A
n.2490C>A
c.1699C>A (p.Gln567Lys)
c.724C>A (p.Gln242Lys)
c.1438C>A (p.Gln480Lys)
n.2234C>A
n.2442C>A
1g.197427606C>GCA344036889CRB1c.2281C>G (p.Gln761Glu)
c.1162C>G (p.Gln388Glu)
c.424C>G (p.Gln142Glu)
c.1945C>G (p.Gln649Glu)
n.182C>G
c.2074C>G (p.Gln692Glu)
c.2128+5650C>G (n.2128+5650C>G)
n.2282C>G
n.2490C>G
c.1699C>G (p.Gln567Glu)
c.724C>G (p.Gln242Glu)
c.1438C>G (p.Gln480Glu)
n.2234C>G
n.2442C>G
1g.197427606C>TCA344036890CRB1c.2281C>T (p.Gln761Ter)
c.1162C>T (p.Gln388Ter)
c.424C>T (p.Gln142Ter)
c.1945C>T (p.Gln649Ter)
n.182C>T
c.2074C>T (p.Gln692Ter)
c.2128+5650C>T (n.2128+5650C>T)
n.2282C>T
n.2490C>T
c.1699C>T (p.Gln567Ter)
c.724C>T (p.Gln242Ter)
c.1438C>T (p.Gln480Ter)
n.2234C>T
n.2442C>T
1g.197427607A=CA1218066061CRB1c.2282A= (p.Gln761=)
c.1163A= (p.Gln388=)
c.425A= (p.Gln142=)
c.1946A= (p.Gln649=)
n.183A=
c.2075A= (p.Gln692=)
c.2128+5651A= (n.2128+5651A=)
n.2283A=
n.2491A=
c.1700A= (p.Gln567=)
c.725A= (p.Gln242=)
c.1439A= (p.Gln480=)
n.2235A=
n.2443A=
1g.197427607A>CCA344036891CRB1c.2282A>C (p.Gln761Pro)
c.1163A>C (p.Gln388Pro)
c.425A>C (p.Gln142Pro)
c.1946A>C (p.Gln649Pro)
n.183A>C
c.2075A>C (p.Gln692Pro)
c.2128+5651A>C (n.2128+5651A>C)
n.2283A>C
n.2491A>C
c.1700A>C (p.Gln567Pro)
c.725A>C (p.Gln242Pro)
c.1439A>C (p.Gln480Pro)
n.2235A>C
n.2443A>C
 dbSNP gnomAD v4
1g.197427607A>GCA344036892CRB1c.2282A>G (p.Gln761Arg)
c.1163A>G (p.Gln388Arg)
c.425A>G (p.Gln142Arg)
c.1946A>G (p.Gln649Arg)
n.183A>G
c.2075A>G (p.Gln692Arg)
c.2128+5651A>G (n.2128+5651A>G)
n.2283A>G
n.2491A>G
c.1700A>G (p.Gln567Arg)
c.725A>G (p.Gln242Arg)
c.1439A>G (p.Gln480Arg)
n.2235A>G
n.2443A>G
 ClinVar
1g.197427607A>TCA344036893CRB1c.2282A>T (p.Gln761Leu)
c.1163A>T (p.Gln388Leu)
c.425A>T (p.Gln142Leu)
c.1946A>T (p.Gln649Leu)
n.183A>T
c.2075A>T (p.Gln692Leu)
c.2128+5651A>T (n.2128+5651A>T)
n.2283A>T
n.2491A>T
c.1700A>T (p.Gln567Leu)
c.725A>T (p.Gln242Leu)
c.1439A>T (p.Gln480Leu)
n.2235A>T
n.2443A>T
1g.197427608A=CA1218066064CRB1c.2283A= (p.Gln761=)
c.1164A= (p.Gln388=)
c.426A= (p.Gln142=)
c.1947A= (p.Gln649=)
n.184A=
c.2076A= (p.Gln692=)
c.2128+5652A= (n.2128+5652A=)
n.2284A=
n.2492A=
c.1701A= (p.Gln567=)
c.726A= (p.Gln242=)
c.1440A= (p.Gln480=)
n.2236A=
n.2444A=
1g.197427608A>CCA1312090CRB1c.2283A>C (p.Gln761His)
c.1164A>C (p.Gln388His)
c.426A>C (p.Gln142His)
c.1947A>C (p.Gln649His)
n.184A>C
c.2076A>C (p.Gln692His)
c.2128+5652A>C (n.2128+5652A>C)
n.2284A>C
n.2492A>C
c.1701A>C (p.Gln567His)
c.726A>C (p.Gln242His)
c.1440A>C (p.Gln480His)
n.2236A>C
n.2444A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427608A>GCA422809046CRB1c.2283A>G (p.Gln761=)
c.1164A>G (p.Gln388=)
c.426A>G (p.Gln142=)
c.1947A>G (p.Gln649=)
n.184A>G
c.2076A>G (p.Gln692=)
c.2128+5652A>G (n.2128+5652A>G)
n.2284A>G
n.2492A>G
c.1701A>G (p.Gln567=)
c.726A>G (p.Gln242=)
c.1440A>G (p.Gln480=)
n.2236A>G
n.2444A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197427608A>TCA344036894CRB1c.2283A>T (p.Gln761His)
c.1164A>T (p.Gln388His)
c.426A>T (p.Gln142His)
c.1947A>T (p.Gln649His)
n.184A>T
c.2076A>T (p.Gln692His)
c.2128+5652A>T (n.2128+5652A>T)
n.2284A>T
n.2492A>T
c.1701A>T (p.Gln567His)
c.726A>T (p.Gln242His)
c.1440A>T (p.Gln480His)
n.2236A>T
n.2444A>T
1g.197427609T>ACA344036895CRB1c.2284T>A (p.Tyr762Asn)
c.1165T>A (p.Tyr389Asn)
c.427T>A (p.Tyr143Asn)
c.1948T>A (p.Tyr650Asn)
n.185T>A
c.2077T>A (p.Tyr693Asn)
c.2128+5653T>A (n.2128+5653T>A)
n.2285T>A
n.2493T>A
c.1702T>A (p.Tyr568Asn)
c.727T>A (p.Tyr243Asn)
c.1441T>A (p.Tyr481Asn)
n.2237T>A
n.2445T>A
1g.197427609T>CCA1312091CRB1c.2284T>C (p.Tyr762His)
c.1165T>C (p.Tyr389His)
c.427T>C (p.Tyr143His)
c.1948T>C (p.Tyr650His)
n.185T>C
c.2077T>C (p.Tyr693His)
c.2128+5653T>C (n.2128+5653T>C)
n.2285T>C
n.2493T>C
c.1702T>C (p.Tyr568His)
c.727T>C (p.Tyr243His)
c.1441T>C (p.Tyr481His)
n.2237T>C
n.2445T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427609T>GCA344036896CRB1c.2284T>G (p.Tyr762Asp)
c.1165T>G (p.Tyr389Asp)
c.427T>G (p.Tyr143Asp)
c.1948T>G (p.Tyr650Asp)
n.185T>G
c.2077T>G (p.Tyr693Asp)
c.2128+5653T>G (n.2128+5653T>G)
n.2285T>G
n.2493T>G
c.1702T>G (p.Tyr568Asp)
c.727T>G (p.Tyr243Asp)
c.1441T>G (p.Tyr481Asp)
n.2237T>G
n.2445T>G
1g.197427609T=CA1148714012CRB1c.2284T= (p.Tyr762=)
c.1165T= (p.Tyr389=)
c.427T= (p.Tyr143=)
c.1948T= (p.Tyr650=)
n.185T=
c.2077T= (p.Tyr693=)
c.2128+5653T= (n.2128+5653T=)
n.2285T=
n.2493T=
c.1702T= (p.Tyr568=)
c.727T= (p.Tyr243=)
c.1441T= (p.Tyr481=)
n.2237T=
n.2445T=
1g.197427610A>CCA344036897CRB1c.2285A>C (p.Tyr762Ser)
c.1166A>C (p.Tyr389Ser)
c.428A>C (p.Tyr143Ser)
c.1949A>C (p.Tyr650Ser)
n.186A>C
c.2078A>C (p.Tyr693Ser)
c.2128+5654A>C (n.2128+5654A>C)
n.2286A>C
n.2494A>C
c.1703A>C (p.Tyr568Ser)
c.728A>C (p.Tyr243Ser)
c.1442A>C (p.Tyr481Ser)
n.2238A>C
n.2446A>C
1g.197427610A>GCA344036898CRB1c.2285A>G (p.Tyr762Cys)
c.1166A>G (p.Tyr389Cys)
c.428A>G (p.Tyr143Cys)
c.1949A>G (p.Tyr650Cys)
n.186A>G
c.2078A>G (p.Tyr693Cys)
c.2128+5654A>G (n.2128+5654A>G)
n.2286A>G
n.2494A>G
c.1703A>G (p.Tyr568Cys)
c.728A>G (p.Tyr243Cys)
c.1442A>G (p.Tyr481Cys)
n.2238A>G
n.2446A>G
1g.197427610A>TCA344036899CRB1c.2285A>T (p.Tyr762Phe)
c.1166A>T (p.Tyr389Phe)
c.428A>T (p.Tyr143Phe)
c.1949A>T (p.Tyr650Phe)
n.186A>T
c.2078A>T (p.Tyr693Phe)
c.2128+5654A>T (n.2128+5654A>T)
n.2286A>T
n.2494A>T
c.1703A>T (p.Tyr568Phe)
c.728A>T (p.Tyr243Phe)
c.1442A>T (p.Tyr481Phe)
n.2238A>T
n.2446A>T
 gnomAD v4
1g.197427611T>ACA344036900CRB1c.2286T>A (p.Tyr762Ter)
c.1167T>A (p.Tyr389Ter)
c.429T>A (p.Tyr143Ter)
c.1950T>A (p.Tyr650Ter)
n.187T>A
c.2079T>A (p.Tyr693Ter)
c.2128+5655T>A (n.2128+5655T>A)
n.2287T>A
n.2495T>A
c.1704T>A (p.Tyr568Ter)
c.729T>A (p.Tyr243Ter)
c.1443T>A (p.Tyr481Ter)
n.2239T>A
n.2447T>A
1g.197427611T>CCA422809048CRB1c.2286T>C (p.Tyr762=)
c.1167T>C (p.Tyr389=)
c.429T>C (p.Tyr143=)
c.1950T>C (p.Tyr650=)
n.187T>C
c.2079T>C (p.Tyr693=)
c.2128+5655T>C (n.2128+5655T>C)
n.2287T>C
n.2495T>C
c.1704T>C (p.Tyr568=)
c.729T>C (p.Tyr243=)
c.1443T>C (p.Tyr481=)
n.2239T>C
n.2447T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427611T>GCA344036901CRB1c.2286T>G (p.Tyr762Ter)
c.1167T>G (p.Tyr389Ter)
c.429T>G (p.Tyr143Ter)
c.1950T>G (p.Tyr650Ter)
n.187T>G
c.2079T>G (p.Tyr693Ter)
c.2128+5655T>G (n.2128+5655T>G)
n.2287T>G
n.2495T>G
c.1704T>G (p.Tyr568Ter)
c.729T>G (p.Tyr243Ter)
c.1443T>G (p.Tyr481Ter)
n.2239T>G
n.2447T>G
1g.197427611T=CA1218066067CRB1c.2286T= (p.Tyr762=)
c.1167T= (p.Tyr389=)
c.429T= (p.Tyr143=)
c.1950T= (p.Tyr650=)
n.187T=
c.2079T= (p.Tyr693=)
c.2128+5655T= (n.2128+5655T=)
n.2287T=
n.2495T=
c.1704T= (p.Tyr568=)
c.729T= (p.Tyr243=)
c.1443T= (p.Tyr481=)
n.2239T=
n.2447T=
1g.197427612A=CA1218066070CRB1c.2287A= (p.Ile763=)
c.1168A= (p.Ile390=)
c.430A= (p.Ile144=)
c.1951A= (p.Ile651=)
n.188A=
c.2080A= (p.Ile694=)
c.2128+5656A= (n.2128+5656A=)
n.2288A=
n.2496A=
c.1705A= (p.Ile569=)
c.730A= (p.Ile244=)
c.1444A= (p.Ile482=)
n.2240A=
n.2448A=
1g.197427612A>CCA344036903CRB1c.2287A>C (p.Ile763Leu)
c.1168A>C (p.Ile390Leu)
c.430A>C (p.Ile144Leu)
c.1951A>C (p.Ile651Leu)
n.188A>C
c.2080A>C (p.Ile694Leu)
c.2128+5656A>C (n.2128+5656A>C)
n.2288A>C
n.2496A>C
c.1705A>C (p.Ile569Leu)
c.730A>C (p.Ile244Leu)
c.1444A>C (p.Ile482Leu)
n.2240A>C
n.2448A>C
1g.197427612A>GCA344036905CRB1c.2287A>G (p.Ile763Val)
c.1168A>G (p.Ile390Val)
c.430A>G (p.Ile144Val)
c.1951A>G (p.Ile651Val)
n.188A>G
c.2080A>G (p.Ile694Val)
c.2128+5656A>G (n.2128+5656A>G)
n.2288A>G
n.2496A>G
c.1705A>G (p.Ile569Val)
c.730A>G (p.Ile244Val)
c.1444A>G (p.Ile482Val)
n.2240A>G
n.2448A>G
1g.197427612A>TCA344036904CRB1c.2287A>T (p.Ile763Phe)
c.1168A>T (p.Ile390Phe)
c.430A>T (p.Ile144Phe)
c.1951A>T (p.Ile651Phe)
n.188A>T
c.2080A>T (p.Ile694Phe)
c.2128+5656A>T (n.2128+5656A>T)
n.2288A>T
n.2496A>T
c.1705A>T (p.Ile569Phe)
c.730A>T (p.Ile244Phe)
c.1444A>T (p.Ile482Phe)
n.2240A>T
n.2448A>T
 dbSNP gnomAD v2 gnomAD v4
1g.197427613T>ACA344036906CRB1c.2288T>A (p.Ile763Asn)
c.1169T>A (p.Ile390Asn)
c.431T>A (p.Ile144Asn)
c.1952T>A (p.Ile651Asn)
n.189T>A
c.2081T>A (p.Ile694Asn)
c.2128+5657T>A (n.2128+5657T>A)
n.2289T>A
n.2497T>A
c.1706T>A (p.Ile569Asn)
c.731T>A (p.Ile244Asn)
c.1445T>A (p.Ile482Asn)
n.2241T>A
n.2449T>A
 ClinVar dbSNP gnomAD v4
1g.197427613T>CCA344036907CRB1c.2288T>C (p.Ile763Thr)
c.1169T>C (p.Ile390Thr)
c.431T>C (p.Ile144Thr)
c.1952T>C (p.Ile651Thr)
n.189T>C
c.2081T>C (p.Ile694Thr)
c.2128+5657T>C (n.2128+5657T>C)
n.2289T>C
n.2497T>C
c.1706T>C (p.Ile569Thr)
c.731T>C (p.Ile244Thr)
c.1445T>C (p.Ile482Thr)
n.2241T>C
n.2449T>C
1g.197427613T>GCA344036908CRB1c.2288T>G (p.Ile763Ser)
c.1169T>G (p.Ile390Ser)
c.431T>G (p.Ile144Ser)
c.1952T>G (p.Ile651Ser)
n.189T>G
c.2081T>G (p.Ile694Ser)
c.2128+5657T>G (n.2128+5657T>G)
n.2289T>G
n.2497T>G
c.1706T>G (p.Ile569Ser)
c.731T>G (p.Ile244Ser)
c.1445T>G (p.Ile482Ser)
n.2241T>G
n.2449T>G
1g.197427614C>ACA422809053CRB1c.2289C>A (p.Ile763=)
c.1170C>A (p.Ile390=)
c.432C>A (p.Ile144=)
c.1953C>A (p.Ile651=)
n.190C>A
c.2082C>A (p.Ile694=)
c.2128+5658C>A (n.2128+5658C>A)
n.2290C>A
n.2498C>A
c.1707C>A (p.Ile569=)
c.732C>A (p.Ile244=)
c.1446C>A (p.Ile482=)
n.2242C>A
n.2450C>A
1g.197427614C>GCA344036909CRB1c.2289C>G (p.Ile763Met)
c.1170C>G (p.Ile390Met)
c.432C>G (p.Ile144Met)
c.1953C>G (p.Ile651Met)
n.190C>G
c.2082C>G (p.Ile694Met)
c.2128+5658C>G (n.2128+5658C>G)
n.2290C>G
n.2498C>G
c.1707C>G (p.Ile569Met)
c.732C>G (p.Ile244Met)
c.1446C>G (p.Ile482Met)
n.2242C>G
n.2450C>G
1g.197427614C>TCA422809052CRB1c.2289C>T (p.Ile763=)
c.1170C>T (p.Ile390=)
c.432C>T (p.Ile144=)
c.1953C>T (p.Ile651=)
n.190C>T
c.2082C>T (p.Ile694=)
c.2128+5658C>T (n.2128+5658C>T)
n.2290C>T
n.2498C>T
c.1707C>T (p.Ile569=)
c.732C>T (p.Ile244=)
c.1446C>T (p.Ile482=)
n.2242C>T
n.2450C>T
 COSMIC COSMIC
1g.197427615C>ACA344036910CRB1c.2290C>A (p.Arg764Ser)
c.1171C>A (p.Arg391Ser)
c.433C>A (p.Arg145Ser)
c.1954C>A (p.Arg652Ser)
n.191C>A
c.2083C>A (p.Arg695Ser)
c.2128+5659C>A (n.2128+5659C>A)
n.2291C>A
n.2499C>A
c.1708C>A (p.Arg570Ser)
c.733C>A (p.Arg245Ser)
c.1447C>A (p.Arg483Ser)
n.2243C>A
n.2451C>A
1g.197427615C=CA1140762941CRB1c.2290C= (p.Arg764=)
c.1171C= (p.Arg391=)
c.433C= (p.Arg145=)
c.1954C= (p.Arg652=)
n.191C=
c.2083C= (p.Arg695=)
c.2128+5659C= (n.2128+5659C=)
n.2291C=
n.2499C=
c.1708C= (p.Arg570=)
c.733C= (p.Arg245=)
c.1447C= (p.Arg483=)
n.2243C=
n.2451C=
1g.197427615C>GCA1312092CRB1c.2290C>G (p.Arg764Gly)
c.1171C>G (p.Arg391Gly)
c.433C>G (p.Arg145Gly)
c.1954C>G (p.Arg652Gly)
n.191C>G
c.2083C>G (p.Arg695Gly)
c.2128+5659C>G (n.2128+5659C>G)
n.2291C>G
n.2499C>G
c.1708C>G (p.Arg570Gly)
c.733C>G (p.Arg245Gly)
c.1447C>G (p.Arg483Gly)
n.2243C>G
n.2451C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427615C>TCA228006CRB1c.2290C>T (p.Arg764Cys)
c.1171C>T (p.Arg391Cys)
c.433C>T (p.Arg145Cys)
c.1954C>T (p.Arg652Cys)
n.191C>T
c.2083C>T (p.Arg695Cys)
c.2128+5659C>T (n.2128+5659C>T)
n.2291C>T
n.2499C>T
c.1708C>T (p.Arg570Cys)
c.733C>T (p.Arg245Cys)
c.1447C>T (p.Arg483Cys)
n.2243C>T
n.2451C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197427616G>ACA233861CRB1c.2291G>A (p.Arg764His)
c.1172G>A (p.Arg391His)
c.434G>A (p.Arg145His)
c.1955G>A (p.Arg652His)
n.192G>A
c.2084G>A (p.Arg695His)
c.2128+5660G>A (n.2128+5660G>A)
n.2292G>A
n.2500G>A
c.1709G>A (p.Arg570His)
c.734G>A (p.Arg245His)
c.1448G>A (p.Arg483His)
n.2244G>A
n.2452G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427616G>CCA344036911CRB1c.2291G>C (p.Arg764Pro)
c.1172G>C (p.Arg391Pro)
c.434G>C (p.Arg145Pro)
c.1955G>C (p.Arg652Pro)
n.192G>C
c.2084G>C (p.Arg695Pro)
c.2128+5660G>C (n.2128+5660G>C)
n.2292G>C
n.2500G>C
c.1709G>C (p.Arg570Pro)
c.734G>C (p.Arg245Pro)
c.1448G>C (p.Arg483Pro)
n.2244G>C
n.2452G>C
 gnomAD v4
1g.197427616G=CA1144034625CRB1c.2291G= (p.Arg764=)
c.1172G= (p.Arg391=)
c.434G= (p.Arg145=)
c.1955G= (p.Arg652=)
n.192G=
c.2084G= (p.Arg695=)
c.2128+5660G= (n.2128+5660G=)
n.2292G=
n.2500G=
c.1709G= (p.Arg570=)
c.734G= (p.Arg245=)
c.1448G= (p.Arg483=)
n.2244G=
n.2452G=
1g.197427616G>TCA35900554CRB1c.2291G>T (p.Arg764Leu)
c.1172G>T (p.Arg391Leu)
c.434G>T (p.Arg145Leu)
c.1955G>T (p.Arg652Leu)
n.192G>T
c.2084G>T (p.Arg695Leu)
c.2128+5660G>T (n.2128+5660G>T)
n.2292G>T
n.2500G>T
c.1709G>T (p.Arg570Leu)
c.734G>T (p.Arg245Leu)
c.1448G>T (p.Arg483Leu)
n.2244G>T
n.2452G>T
 dbSNP gnomAD v3 gnomAD v4
1g.197427618_197427619delCA2580611529CRB1c.2293_2294del (p.Val765LeufsTer24)
c.1174_1175del (p.Val392LeufsTer24)
c.436_437del (p.Val146LeufsTer24)
c.1957_1958del (p.Val653LeufsTer24)
n.194_195del
c.2086_2087del (p.Val696LeufsTer24)
c.2128+5662_2128+5663del (n.2128+5662_2128+5663del)
n.2294_2295del
n.2502_2503del
c.1711_1712del (p.Val571LeufsTer24)
c.736_737del (p.Val246LeufsTer24)
c.1450_1451del (p.Val484LeufsTer24)
n.2246_2247del
n.2454_2455del
 ClinVar
1g.197427617T>ACA422809055CRB1c.2292T>A (p.Arg764=)
c.1173T>A (p.Arg391=)
c.435T>A (p.Arg145=)
c.1956T>A (p.Arg652=)
n.193T>A
c.2085T>A (p.Arg695=)
c.2128+5661T>A (n.2128+5661T>A)
n.2293T>A
n.2501T>A
c.1710T>A (p.Arg570=)
c.735T>A (p.Arg245=)
c.1449T>A (p.Arg483=)
n.2245T>A
n.2453T>A
1g.197427617T>CCA422809056CRB1c.2292T>C (p.Arg764=)
c.1173T>C (p.Arg391=)
c.435T>C (p.Arg145=)
c.1956T>C (p.Arg652=)
n.193T>C
c.2085T>C (p.Arg695=)
c.2128+5661T>C (n.2128+5661T>C)
n.2293T>C
n.2501T>C
c.1710T>C (p.Arg570=)
c.735T>C (p.Arg245=)
c.1449T>C (p.Arg483=)
n.2245T>C
n.2453T>C
1g.197427617T>GCA422809057CRB1c.2292T>G (p.Arg764=)
c.1173T>G (p.Arg391=)
c.435T>G (p.Arg145=)
c.1956T>G (p.Arg652=)
n.193T>G
c.2085T>G (p.Arg695=)
c.2128+5661T>G (n.2128+5661T>G)
n.2293T>G
n.2501T>G
c.1710T>G (p.Arg570=)
c.735T>G (p.Arg245=)
c.1449T>G (p.Arg483=)
n.2245T>G
n.2453T>G
1g.197427618G>ACA344036912CRB1c.2293G>A (p.Val765Ile)
c.1174G>A (p.Val392Ile)
c.436G>A (p.Val146Ile)
c.1957G>A (p.Val653Ile)
n.194G>A
c.2086G>A (p.Val696Ile)
c.2128+5662G>A (n.2128+5662G>A)
n.2294G>A
n.2502G>A
c.1711G>A (p.Val571Ile)
c.736G>A (p.Val246Ile)
c.1450G>A (p.Val484Ile)
n.2246G>A
n.2454G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427618G>CCA344036913CRB1c.2293G>C (p.Val765Leu)
c.1174G>C (p.Val392Leu)
c.436G>C (p.Val146Leu)
c.1957G>C (p.Val653Leu)
n.194G>C
c.2086G>C (p.Val696Leu)
c.2128+5662G>C (n.2128+5662G>C)
n.2294G>C
n.2502G>C
c.1711G>C (p.Val571Leu)
c.736G>C (p.Val246Leu)
c.1450G>C (p.Val484Leu)
n.2246G>C
n.2454G>C
1g.197427618G=CA1218066080CRB1c.2293G= (p.Val765=)
c.1174G= (p.Val392=)
c.436G= (p.Val146=)
c.1957G= (p.Val653=)
n.194G=
c.2086G= (p.Val696=)
c.2128+5662G= (n.2128+5662G=)
n.2294G=
n.2502G=
c.1711G= (p.Val571=)
c.736G= (p.Val246=)
c.1450G= (p.Val484=)
n.2246G=
n.2454G=
1g.197427618G>TCA344036914CRB1c.2293G>T (p.Val765Phe)
c.1174G>T (p.Val392Phe)
c.436G>T (p.Val146Phe)
c.1957G>T (p.Val653Phe)
n.194G>T
c.2086G>T (p.Val696Phe)
c.2128+5662G>T (n.2128+5662G>T)
n.2294G>T
n.2502G>T
c.1711G>T (p.Val571Phe)
c.736G>T (p.Val246Phe)
c.1450G>T (p.Val484Phe)
n.2246G>T
n.2454G>T
 COSMIC COSMIC
1g.197427619T>ACA344036915CRB1c.2294T>A (p.Val765Asp)
c.1175T>A (p.Val392Asp)
c.437T>A (p.Val146Asp)
c.1958T>A (p.Val653Asp)
n.195T>A
c.2087T>A (p.Val696Asp)
c.2128+5663T>A (n.2128+5663T>A)
n.2295T>A
n.2503T>A
c.1712T>A (p.Val571Asp)
c.737T>A (p.Val246Asp)
c.1451T>A (p.Val484Asp)
n.2247T>A
n.2455T>A
 dbSNP gnomAD v3 gnomAD v4
1g.197427619T>CCA10575439CRB1c.2294T>C (p.Val765Ala)
c.1175T>C (p.Val392Ala)
c.437T>C (p.Val146Ala)
c.1958T>C (p.Val653Ala)
n.195T>C
c.2087T>C (p.Val696Ala)
c.2128+5663T>C (n.2128+5663T>C)
n.2295T>C
n.2503T>C
c.1712T>C (p.Val571Ala)
c.737T>C (p.Val246Ala)
c.1451T>C (p.Val484Ala)
n.2247T>C
n.2455T>C
 ClinVar dbSNP
1g.197427619T>GCA344036916CRB1c.2294T>G (p.Val765Gly)
c.1175T>G (p.Val392Gly)
c.437T>G (p.Val146Gly)
c.1958T>G (p.Val653Gly)
n.195T>G
c.2087T>G (p.Val696Gly)
c.2128+5663T>G (n.2128+5663T>G)
n.2295T>G
n.2503T>G
c.1712T>G (p.Val571Gly)
c.737T>G (p.Val246Gly)
c.1451T>G (p.Val484Gly)
n.2247T>G
n.2455T>G
1g.197427619T=CA1218066081CRB1c.2294T= (p.Val765=)
c.1175T= (p.Val392=)
c.437T= (p.Val146=)
c.1958T= (p.Val653=)
n.195T=
c.2087T= (p.Val696=)
c.2128+5663T= (n.2128+5663T=)
n.2295T=
n.2503T=
c.1712T= (p.Val571=)
c.737T= (p.Val246=)
c.1451T= (p.Val484=)
n.2247T=
n.2455T=
1g.197427620C>ACA422809064CRB1c.2295C>A (p.Val765=)
c.1176C>A (p.Val392=)
c.438C>A (p.Val146=)
c.1959C>A (p.Val653=)
n.196C>A
c.2088C>A (p.Val696=)
c.2128+5664C>A (n.2128+5664C>A)
n.2296C>A
n.2504C>A
c.1713C>A (p.Val571=)
c.738C>A (p.Val246=)
c.1452C>A (p.Val484=)
n.2248C>A
n.2456C>A
1g.197427620C>GCA422809062CRB1c.2295C>G (p.Val765=)
c.1176C>G (p.Val392=)
c.438C>G (p.Val146=)
c.1959C>G (p.Val653=)
n.196C>G
c.2088C>G (p.Val696=)
c.2128+5664C>G (n.2128+5664C>G)
n.2296C>G
n.2504C>G
c.1713C>G (p.Val571=)
c.738C>G (p.Val246=)
c.1452C>G (p.Val484=)
n.2248C>G
n.2456C>G
1g.197427620C>TCA422809066CRB1c.2295C>T (p.Val765=)
c.1176C>T (p.Val392=)
c.438C>T (p.Val146=)
c.1959C>T (p.Val653=)
n.196C>T
c.2088C>T (p.Val696=)
c.2128+5664C>T (n.2128+5664C>T)
n.2296C>T
n.2504C>T
c.1713C>T (p.Val571=)
c.738C>T (p.Val246=)
c.1452C>T (p.Val484=)
n.2248C>T
n.2456C>T
 COSMIC
1g.197427621T>ACA344036917CRB1c.2296T>A (p.Trp766Arg)
c.1177T>A (p.Trp393Arg)
c.439T>A (p.Trp147Arg)
c.1960T>A (p.Trp654Arg)
n.197T>A
c.2089T>A (p.Trp697Arg)
c.2128+5665T>A (n.2128+5665T>A)
n.2297T>A
n.2505T>A
c.1714T>A (p.Trp572Arg)
c.739T>A (p.Trp247Arg)
c.1453T>A (p.Trp485Arg)
n.2249T>A
n.2457T>A
1g.197427621T>CCA344036918CRB1c.2296T>C (p.Trp766Arg)
c.1177T>C (p.Trp393Arg)
c.439T>C (p.Trp147Arg)
c.1960T>C (p.Trp654Arg)
n.197T>C
c.2089T>C (p.Trp697Arg)
c.2128+5665T>C (n.2128+5665T>C)
n.2297T>C
n.2505T>C
c.1714T>C (p.Trp572Arg)
c.739T>C (p.Trp247Arg)
c.1453T>C (p.Trp485Arg)
n.2249T>C
n.2457T>C
1g.197427621T>GCA344036919CRB1c.2296T>G (p.Trp766Gly)
c.1177T>G (p.Trp393Gly)
c.439T>G (p.Trp147Gly)
c.1960T>G (p.Trp654Gly)
n.197T>G
c.2089T>G (p.Trp697Gly)
c.2128+5665T>G (n.2128+5665T>G)
n.2297T>G
n.2505T>G
c.1714T>G (p.Trp572Gly)
c.739T>G (p.Trp247Gly)
c.1453T>G (p.Trp485Gly)
n.2249T>G
n.2457T>G
1g.197427622G>ACA344036920CRB1c.2297G>A (p.Trp766Ter)
c.1178G>A (p.Trp393Ter)
c.440G>A (p.Trp147Ter)
c.1961G>A (p.Trp654Ter)
n.198G>A
c.2090G>A (p.Trp697Ter)
c.2128+5666G>A (n.2128+5666G>A)
n.2298G>A
n.2506G>A
c.1715G>A (p.Trp572Ter)
c.740G>A (p.Trp247Ter)
c.1454G>A (p.Trp485Ter)
n.2250G>A
n.2458G>A
 ClinVar gnomAD v4
1g.197427622G>CCA344036922CRB1c.2297G>C (p.Trp766Ser)
c.1178G>C (p.Trp393Ser)
c.440G>C (p.Trp147Ser)
c.1961G>C (p.Trp654Ser)
n.198G>C
c.2090G>C (p.Trp697Ser)
c.2128+5666G>C (n.2128+5666G>C)
n.2298G>C
n.2506G>C
c.1715G>C (p.Trp572Ser)
c.740G>C (p.Trp247Ser)
c.1454G>C (p.Trp485Ser)
n.2250G>C
n.2458G>C
1g.197427622G>TCA344036921CRB1c.2297G>T (p.Trp766Leu)
c.1178G>T (p.Trp393Leu)
c.440G>T (p.Trp147Leu)
c.1961G>T (p.Trp654Leu)
n.198G>T
c.2090G>T (p.Trp697Leu)
c.2128+5666G>T (n.2128+5666G>T)
n.2298G>T
n.2506G>T
c.1715G>T (p.Trp572Leu)
c.740G>T (p.Trp247Leu)
c.1454G>T (p.Trp485Leu)
n.2250G>T
n.2458G>T
1g.197427623G>ACA344036923CRB1c.2298G>A (p.Trp766Ter)
c.1179G>A (p.Trp393Ter)
c.441G>A (p.Trp147Ter)
c.1962G>A (p.Trp654Ter)
n.199G>A
c.2091G>A (p.Trp697Ter)
c.2128+5667G>A (n.2128+5667G>A)
n.2299G>A
n.2507G>A
c.1716G>A (p.Trp572Ter)
c.741G>A (p.Trp247Ter)
c.1455G>A (p.Trp485Ter)
n.2251G>A
n.2459G>A
 ClinVar dbSNP
1g.197427623G>CCA344036925CRB1c.2298G>C (p.Trp766Cys)
c.1179G>C (p.Trp393Cys)
c.441G>C (p.Trp147Cys)
c.1962G>C (p.Trp654Cys)
n.199G>C
c.2091G>C (p.Trp697Cys)
c.2128+5667G>C (n.2128+5667G>C)
n.2299G>C
n.2507G>C
c.1716G>C (p.Trp572Cys)
c.741G>C (p.Trp247Cys)
c.1455G>C (p.Trp485Cys)
n.2251G>C
n.2459G>C
 gnomAD v4
1g.197427623G=CA1218066083CRB1c.2298G= (p.Trp766=)
c.1179G= (p.Trp393=)
c.441G= (p.Trp147=)
c.1962G= (p.Trp654=)
n.199G=
c.2091G= (p.Trp697=)
c.2128+5667G= (n.2128+5667G=)
n.2299G=
n.2507G=
c.1716G= (p.Trp572=)
c.741G= (p.Trp247=)
c.1455G= (p.Trp485=)
n.2251G=
n.2459G=
1g.197427623G>TCA344036924CRB1c.2298G>T (p.Trp766Cys)
c.1179G>T (p.Trp393Cys)
c.441G>T (p.Trp147Cys)
c.1962G>T (p.Trp654Cys)
n.199G>T
c.2091G>T (p.Trp697Cys)
c.2128+5667G>T (n.2128+5667G>T)
n.2299G>T
n.2507G>T
c.1716G>T (p.Trp572Cys)
c.741G>T (p.Trp247Cys)
c.1455G>T (p.Trp485Cys)
n.2251G>T
n.2459G>T
1g.197427624C>ACA344036926CRB1c.2299C>A (p.Leu767Ile)
c.1180C>A (p.Leu394Ile)
c.442C>A (p.Leu148Ile)
c.1963C>A (p.Leu655Ile)
n.200C>A
c.2092C>A (p.Leu698Ile)
c.2128+5668C>A (n.2128+5668C>A)
n.2300C>A
n.2508C>A
c.1717C>A (p.Leu573Ile)
c.742C>A (p.Leu248Ile)
c.1456C>A (p.Leu486Ile)
n.2252C>A
n.2460C>A
1g.197427624C>GCA344036927CRB1c.2299C>G (p.Leu767Val)
c.1180C>G (p.Leu394Val)
c.442C>G (p.Leu148Val)
c.1963C>G (p.Leu655Val)
n.200C>G
c.2092C>G (p.Leu698Val)
c.2128+5668C>G (n.2128+5668C>G)
n.2300C>G
n.2508C>G
c.1717C>G (p.Leu573Val)
c.742C>G (p.Leu248Val)
c.1456C>G (p.Leu486Val)
n.2252C>G
n.2460C>G
1g.197427624C>TCA422809069CRB1c.2299C>T (p.Leu767=)
c.1180C>T (p.Leu394=)
c.442C>T (p.Leu148=)
c.1963C>T (p.Leu655=)
n.200C>T
c.2092C>T (p.Leu698=)
c.2128+5668C>T (n.2128+5668C>T)
n.2300C>T
n.2508C>T
c.1717C>T (p.Leu573=)
c.742C>T (p.Leu248=)
c.1456C>T (p.Leu486=)
n.2252C>T
n.2460C>T
1g.197427625delCA2747247596CRB1c.2300del (p.Leu767GlnfsTer6)
c.1181del (p.Leu394GlnfsTer6)
c.443del (p.Leu148GlnfsTer6)
c.1964del (p.Leu655GlnfsTer6)
n.201del
c.2093del (p.Leu698GlnfsTer6)
c.2128+5669del (n.2128+5669del)
n.2301del
n.2509del
c.1718del (p.Leu573GlnfsTer6)
c.743del (p.Leu248GlnfsTer6)
c.1457del (p.Leu486GlnfsTer6)
n.2253del
n.2461del
1g.197427625T>ACA344036930CRB1c.2300T>A (p.Leu767Gln)
c.1181T>A (p.Leu394Gln)
c.443T>A (p.Leu148Gln)
c.1964T>A (p.Leu655Gln)
n.201T>A
c.2093T>A (p.Leu698Gln)
c.2128+5669T>A (n.2128+5669T>A)
n.2301T>A
n.2509T>A
c.1718T>A (p.Leu573Gln)
c.743T>A (p.Leu248Gln)
c.1457T>A (p.Leu486Gln)
n.2253T>A
n.2461T>A
1g.197427625T>CCA344036931CRB1c.2300T>C (p.Leu767Pro)
c.1181T>C (p.Leu394Pro)
c.443T>C (p.Leu148Pro)
c.1964T>C (p.Leu655Pro)
n.201T>C
c.2093T>C (p.Leu698Pro)
c.2128+5669T>C (n.2128+5669T>C)
n.2301T>C
n.2509T>C
c.1718T>C (p.Leu573Pro)
c.743T>C (p.Leu248Pro)
c.1457T>C (p.Leu486Pro)
n.2253T>C
n.2461T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427625T>GCA344036932CRB1c.2300T>G (p.Leu767Arg)
c.1181T>G (p.Leu394Arg)
c.443T>G (p.Leu148Arg)
c.1964T>G (p.Leu655Arg)
n.201T>G
c.2093T>G (p.Leu698Arg)
c.2128+5669T>G (n.2128+5669T>G)
n.2301T>G
n.2509T>G
c.1718T>G (p.Leu573Arg)
c.743T>G (p.Leu248Arg)
c.1457T>G (p.Leu486Arg)
n.2253T>G
n.2461T>G
1g.197427625T=CA1218066086CRB1c.2300T= (p.Leu767=)
c.1181T= (p.Leu394=)
c.443T= (p.Leu148=)
c.1964T= (p.Leu655=)
n.201T=
c.2093T= (p.Leu698=)
c.2128+5669T= (n.2128+5669T=)
n.2301T=
n.2509T=
c.1718T= (p.Leu573=)
c.743T= (p.Leu248=)
c.1457T= (p.Leu486=)
n.2253T=
n.2461T=
1g.197427626A>CCA422809071CRB1c.2301A>C (p.Leu767=)
c.1182A>C (p.Leu394=)
c.444A>C (p.Leu148=)
c.1965A>C (p.Leu655=)
n.202A>C
c.2094A>C (p.Leu698=)
c.2128+5670A>C (n.2128+5670A>C)
n.2302A>C
n.2510A>C
c.1719A>C (p.Leu573=)
c.744A>C (p.Leu248=)
c.1458A>C (p.Leu486=)
n.2254A>C
n.2462A>C
1g.197427626A>GCA422809072CRB1c.2301A>G (p.Leu767=)
c.1182A>G (p.Leu394=)
c.444A>G (p.Leu148=)
c.1965A>G (p.Leu655=)
n.202A>G
c.2094A>G (p.Leu698=)
c.2128+5670A>G (n.2128+5670A>G)
n.2302A>G
n.2510A>G
c.1719A>G (p.Leu573=)
c.744A>G (p.Leu248=)
c.1458A>G (p.Leu486=)
n.2254A>G
n.2462A>G
 ClinVar dbSNP
1g.197427626A>TCA422809076CRB1c.2301A>T (p.Leu767=)
c.1182A>T (p.Leu394=)
c.444A>T (p.Leu148=)
c.1965A>T (p.Leu655=)
n.202A>T
c.2094A>T (p.Leu698=)
c.2128+5670A>T (n.2128+5670A>T)
n.2302A>T
n.2510A>T
c.1719A>T (p.Leu573=)
c.744A>T (p.Leu248=)
c.1458A>T (p.Leu486=)
n.2254A>T
n.2462A>T
1g.197427627G>ACA344036933CRB1c.2302G>A (p.Glu768Lys)
c.1183G>A (p.Glu395Lys)
c.445G>A (p.Glu149Lys)
c.1966G>A (p.Glu656Lys)
n.203G>A
c.2095G>A (p.Glu699Lys)
c.2128+5671G>A (n.2128+5671G>A)
n.2303G>A
n.2511G>A
c.1720G>A (p.Glu574Lys)
c.745G>A (p.Glu249Lys)
c.1459G>A (p.Glu487Lys)
n.2255G>A
n.2463G>A
1g.197427627G>CCA1312093CRB1c.2302G>C (p.Glu768Gln)
c.1183G>C (p.Glu395Gln)
c.445G>C (p.Glu149Gln)
c.1966G>C (p.Glu656Gln)
n.203G>C
c.2095G>C (p.Glu699Gln)
c.2128+5671G>C (n.2128+5671G>C)
n.2303G>C
n.2511G>C
c.1720G>C (p.Glu574Gln)
c.745G>C (p.Glu249Gln)
c.1459G>C (p.Glu487Gln)
n.2255G>C
n.2463G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427627G=CA1218066087CRB1c.2302G= (p.Glu768=)
c.1183G= (p.Glu395=)
c.445G= (p.Glu149=)
c.1966G= (p.Glu656=)
n.203G=
c.2095G= (p.Glu699=)
c.2128+5671G= (n.2128+5671G=)
n.2303G=
n.2511G=
c.1720G= (p.Glu574=)
c.745G= (p.Glu249=)
c.1459G= (p.Glu487=)
n.2255G=
n.2463G=
1g.197427627G>TCA344036934CRB1c.2302G>T (p.Glu768Ter)
c.1183G>T (p.Glu395Ter)
c.445G>T (p.Glu149Ter)
c.1966G>T (p.Glu656Ter)
n.203G>T
c.2095G>T (p.Glu699Ter)
c.2128+5671G>T (n.2128+5671G>T)
n.2303G>T
n.2511G>T
c.1720G>T (p.Glu574Ter)
c.745G>T (p.Glu249Ter)
c.1459G>T (p.Glu487Ter)
n.2255G>T
n.2463G>T
1g.197427628A=CA1218066090CRB1c.2303A= (p.Glu768=)
c.1184A= (p.Glu395=)
c.446A= (p.Glu149=)
c.1967A= (p.Glu656=)
n.204A=
c.2096A= (p.Glu699=)
c.2128+5672A= (n.2128+5672A=)
n.2304A=
n.2512A=
c.1721A= (p.Glu574=)
c.746A= (p.Glu249=)
c.1460A= (p.Glu487=)
n.2256A=
n.2464A=
1g.197427628A>CCA344036935CRB1c.2303A>C (p.Glu768Ala)
c.1184A>C (p.Glu395Ala)
c.446A>C (p.Glu149Ala)
c.1967A>C (p.Glu656Ala)
n.204A>C
c.2096A>C (p.Glu699Ala)
c.2128+5672A>C (n.2128+5672A>C)
n.2304A>C
n.2512A>C
c.1721A>C (p.Glu574Ala)
c.746A>C (p.Glu249Ala)
c.1460A>C (p.Glu487Ala)
n.2256A>C
n.2464A>C
1g.197427628A>GCA1312094CRB1c.2303A>G (p.Glu768Gly)
c.1184A>G (p.Glu395Gly)
c.446A>G (p.Glu149Gly)
c.1967A>G (p.Glu656Gly)
n.204A>G
c.2096A>G (p.Glu699Gly)
c.2128+5672A>G (n.2128+5672A>G)
n.2304A>G
n.2512A>G
c.1721A>G (p.Glu574Gly)
c.746A>G (p.Glu249Gly)
c.1460A>G (p.Glu487Gly)
n.2256A>G
n.2464A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427628A>TCA344036936CRB1c.2303A>T (p.Glu768Val)
c.1184A>T (p.Glu395Val)
c.446A>T (p.Glu149Val)
c.1967A>T (p.Glu656Val)
n.204A>T
c.2096A>T (p.Glu699Val)
c.2128+5672A>T (n.2128+5672A>T)
n.2304A>T
n.2512A>T
c.1721A>T (p.Glu574Val)
c.746A>T (p.Glu249Val)
c.1460A>T (p.Glu487Val)
n.2256A>T
n.2464A>T
1g.197427629G>ACA422809083CRB1c.2304G>A (p.Glu768=)
c.1185G>A (p.Glu395=)
c.447G>A (p.Glu149=)
c.1968G>A (p.Glu656=)
n.205G>A
c.2097G>A (p.Glu699=)
c.2128+5673G>A (n.2128+5673G>A)
n.2305G>A
n.2513G>A
c.1722G>A (p.Glu574=)
c.747G>A (p.Glu249=)
c.1461G>A (p.Glu487=)
n.2257G>A
n.2465G>A
1g.197427629G>CCA344036937CRB1c.2304G>C (p.Glu768Asp)
c.1185G>C (p.Glu395Asp)
c.447G>C (p.Glu149Asp)
c.1968G>C (p.Glu656Asp)
n.205G>C
c.2097G>C (p.Glu699Asp)
c.2128+5673G>C (n.2128+5673G>C)
n.2305G>C
n.2513G>C
c.1722G>C (p.Glu574Asp)
c.747G>C (p.Glu249Asp)
c.1461G>C (p.Glu487Asp)
n.2257G>C
n.2465G>C
1g.197427629G>TCA344036938CRB1c.2304G>T (p.Glu768Asp)
c.1185G>T (p.Glu395Asp)
c.447G>T (p.Glu149Asp)
c.1968G>T (p.Glu656Asp)
n.205G>T
c.2097G>T (p.Glu699Asp)
c.2128+5673G>T (n.2128+5673G>T)
n.2305G>T
n.2513G>T
c.1722G>T (p.Glu574Asp)
c.747G>T (p.Glu249Asp)
c.1461G>T (p.Glu487Asp)
n.2257G>T
n.2465G>T
1g.197427630C>ACA344036939CRB1c.2305C>A (p.Arg769Ser)
c.1186C>A (p.Arg396Ser)
c.448C>A (p.Arg150Ser)
c.1969C>A (p.Arg657Ser)
n.206C>A
c.2098C>A (p.Arg700Ser)
c.2128+5674C>A (n.2128+5674C>A)
n.2306C>A
n.2514C>A
c.1723C>A (p.Arg575Ser)
c.748C>A (p.Arg250Ser)
c.1462C>A (p.Arg488Ser)
n.2258C>A
n.2466C>A
 dbSNP gnomAD v2 gnomAD v4
1g.197427630C=CA1148301556CRB1c.2305C= (p.Arg769=)
c.1186C= (p.Arg396=)
c.448C= (p.Arg150=)
c.1969C= (p.Arg657=)
n.206C=
c.2098C= (p.Arg700=)
c.2128+5674C= (n.2128+5674C=)
n.2306C=
n.2514C=
c.1723C= (p.Arg575=)
c.748C= (p.Arg250=)
c.1462C= (p.Arg488=)
n.2258C=
n.2466C=
1g.197427630C>GCA344036940CRB1c.2305C>G (p.Arg769Gly)
c.1186C>G (p.Arg396Gly)
c.448C>G (p.Arg150Gly)
c.1969C>G (p.Arg657Gly)
n.206C>G
c.2098C>G (p.Arg700Gly)
c.2128+5674C>G (n.2128+5674C>G)
n.2306C>G
n.2514C>G
c.1723C>G (p.Arg575Gly)
c.748C>G (p.Arg250Gly)
c.1462C>G (p.Arg488Gly)
n.2258C>G
n.2466C>G
 gnomAD v4
1g.197427630C>TCA1312095CRB1c.2305C>T (p.Arg769Cys)
c.1186C>T (p.Arg396Cys)
c.448C>T (p.Arg150Cys)
c.1969C>T (p.Arg657Cys)
n.206C>T
c.2098C>T (p.Arg700Cys)
c.2128+5674C>T (n.2128+5674C>T)
n.2306C>T
n.2514C>T
c.1723C>T (p.Arg575Cys)
c.748C>T (p.Arg250Cys)
c.1462C>T (p.Arg488Cys)
n.2258C>T
n.2466C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197427631G>ACA179934CRB1c.2306G>A (p.Arg769His)
c.1187G>A (p.Arg396His)
c.449G>A (p.Arg150His)
c.1970G>A (p.Arg657His)
n.207G>A
c.2099G>A (p.Arg700His)
c.2128+5675G>A (n.2128+5675G>A)
n.2307G>A
n.2515G>A
c.1724G>A (p.Arg575His)
c.749G>A (p.Arg250His)
c.1463G>A (p.Arg488His)
n.2259G>A
n.2467G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427631G>CCA344036941CRB1c.2306G>C (p.Arg769Pro)
c.1187G>C (p.Arg396Pro)
c.449G>C (p.Arg150Pro)
c.1970G>C (p.Arg657Pro)
n.207G>C
c.2099G>C (p.Arg700Pro)
c.2128+5675G>C (n.2128+5675G>C)
n.2307G>C
n.2515G>C
c.1724G>C (p.Arg575Pro)
c.749G>C (p.Arg250Pro)
c.1463G>C (p.Arg488Pro)
n.2259G>C
n.2467G>C
 ClinVar dbSNP
1g.197427631G=CA1140762942CRB1c.2306G= (p.Arg769=)
c.1187G= (p.Arg396=)
c.449G= (p.Arg150=)
c.1970G= (p.Arg657=)
n.207G=
c.2099G= (p.Arg700=)
c.2128+5675G= (n.2128+5675G=)
n.2307G=
n.2515G=
c.1724G= (p.Arg575=)
c.749G= (p.Arg250=)
c.1463G= (p.Arg488=)
n.2259G=
n.2467G=
1g.197427631G>TCA344036942CRB1c.2306G>T (p.Arg769Leu)
c.1187G>T (p.Arg396Leu)
c.449G>T (p.Arg150Leu)
c.1970G>T (p.Arg657Leu)
n.207G>T
c.2099G>T (p.Arg700Leu)
c.2128+5675G>T (n.2128+5675G>T)
n.2307G>T
n.2515G>T
c.1724G>T (p.Arg575Leu)
c.749G>T (p.Arg250Leu)
c.1463G>T (p.Arg488Leu)
n.2259G>T
n.2467G>T
1g.197427631_197427632delinsAGCA2586964520CRB1c.2306_2307delinsAG (p.Arg769Gln)
c.1187_1188delinsAG (p.Arg396Gln)
c.449_450delinsAG (p.Arg150Gln)
c.1970_1971delinsAG (p.Arg657Gln)
n.207_208delinsAG
c.2099_2100delinsAG (p.Arg700Gln)
c.2128+5675_2128+5676delinsAG (n.2128+5675_2128+5676delinsAG)
n.2307_2308delinsAG
n.2515_2516delinsAG
c.1724_1725delinsAG (p.Arg575Gln)
c.749_750delinsAG (p.Arg250Gln)
c.1463_1464delinsAG (p.Arg488Gln)
n.2259_2260delinsAG
n.2467_2468delinsAG
1g.197427631_197427632insACACA2747247611CRB1c.2306_2307insACA (p.Arg769_Gly770insHis)
c.1187_1188insACA (p.Arg396_Gly397insHis)
c.449_450insACA (p.Arg150_Gly151insHis)
c.1970_1971insACA (p.Arg657_Gly658insHis)
n.207_208insACA
c.2099_2100insACA (p.Arg700_Gly701insHis)
c.2128+5675_2128+5676insACA (n.2128+5675_2128+5676insACA)
n.2307_2308insACA
n.2515_2516insACA
c.1724_1725insACA (p.Arg575_Gly576insHis)
c.749_750insACA (p.Arg250_Gly251insHis)
c.1463_1464insACA (p.Arg488_Gly489insHis)
n.2259_2260insACA
n.2467_2468insACA
1g.197427632C>ACA1312097CRB1c.2307C>A (p.Arg769=)
c.1188C>A (p.Arg396=)
c.450C>A (p.Arg150=)
c.1971C>A (p.Arg657=)
n.208C>A
c.2100C>A (p.Arg700=)
c.2128+5676C>A (n.2128+5676C>A)
n.2308C>A
n.2516C>A
c.1725C>A (p.Arg575=)
c.750C>A (p.Arg250=)
c.1464C>A (p.Arg488=)
n.2260C>A
n.2468C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427632C=CA1142406312CRB1c.2307C= (p.Arg769=)
c.1188C= (p.Arg396=)
c.450C= (p.Arg150=)
c.1971C= (p.Arg657=)
n.208C=
c.2100C= (p.Arg700=)
c.2128+5676C= (n.2128+5676C=)
n.2308C=
n.2516C=
c.1725C= (p.Arg575=)
c.750C= (p.Arg250=)
c.1464C= (p.Arg488=)
n.2260C=
n.2468C=
1g.197427632C>GCA422809093CRB1c.2307C>G (p.Arg769=)
c.1188C>G (p.Arg396=)
c.450C>G (p.Arg150=)
c.1971C>G (p.Arg657=)
n.208C>G
c.2100C>G (p.Arg700=)
c.2128+5676C>G (n.2128+5676C>G)
n.2308C>G
n.2516C>G
c.1725C>G (p.Arg575=)
c.750C>G (p.Arg250=)
c.1464C>G (p.Arg488=)
n.2260C>G
n.2468C>G
 ClinVar
1g.197427632C>TCA1312096CRB1c.2307C>T (p.Arg769=)
c.1188C>T (p.Arg396=)
c.450C>T (p.Arg150=)
c.1971C>T (p.Arg657=)
n.208C>T
c.2100C>T (p.Arg700=)
c.2128+5676C>T (n.2128+5676C>T)
n.2308C>T
n.2516C>T
c.1725C>T (p.Arg575=)
c.750C>T (p.Arg250=)
c.1464C>T (p.Arg488=)
n.2260C>T
n.2468C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197427633G>ACA1312098CRB1c.2308G>A (p.Gly770Ser)
c.1189G>A (p.Gly397Ser)
c.451G>A (p.Gly151Ser)
c.1972G>A (p.Gly658Ser)
n.209G>A
c.2101G>A (p.Gly701Ser)
c.2128+5677G>A (n.2128+5677G>A)
n.2309G>A
n.2517G>A
c.1726G>A (p.Gly576Ser)
c.751G>A (p.Gly251Ser)
c.1465G>A (p.Gly489Ser)
n.2261G>A
n.2469G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197427633G>CCA344036943CRB1c.2308G>C (p.Gly770Arg)
c.1189G>C (p.Gly397Arg)
c.451G>C (p.Gly151Arg)
c.1972G>C (p.Gly658Arg)
n.209G>C
c.2101G>C (p.Gly701Arg)
c.2128+5677G>C (n.2128+5677G>C)
n.2309G>C
n.2517G>C
c.1726G>C (p.Gly576Arg)
c.751G>C (p.Gly251Arg)
c.1465G>C (p.Gly489Arg)
n.2261G>C
n.2469G>C
 dbSNP gnomAD v2 gnomAD v4
1g.197427633G=CA1218066108CRB1c.2308G= (p.Gly770=)
c.1189G= (p.Gly397=)
c.451G= (p.Gly151=)
c.1972G= (p.Gly658=)
n.209G=
c.2101G= (p.Gly701=)
c.2128+5677G= (n.2128+5677G=)
n.2309G=
n.2517G=
c.1726G= (p.Gly576=)
c.751G= (p.Gly251=)
c.1465G= (p.Gly489=)
n.2261G=
n.2469G=
1g.197427633G>TCA344036944CRB1c.2308G>T (p.Gly770Cys)
c.1189G>T (p.Gly397Cys)
c.451G>T (p.Gly151Cys)
c.1972G>T (p.Gly658Cys)
n.209G>T
c.2101G>T (p.Gly701Cys)
c.2128+5677G>T (n.2128+5677G>T)
n.2309G>T
n.2517G>T
c.1726G>T (p.Gly576Cys)
c.751G>T (p.Gly251Cys)
c.1465G>T (p.Gly489Cys)
n.2261G>T
n.2469G>T
1g.197427634dupCA2649670116CRB1c.2309dup (p.Arg771GlnfsTer19)
c.1190dup (p.Arg398GlnfsTer19)
c.452dup (p.Arg152GlnfsTer19)
c.1973dup (p.Arg659GlnfsTer19)
n.210dup
c.2102dup (p.Arg702GlnfsTer19)
c.2128+5678dup (n.2128+5678dup)
n.2310dup
n.2518dup
c.1727dup (p.Arg577GlnfsTer19)
c.752dup (p.Arg252GlnfsTer19)
c.1466dup (p.Arg490GlnfsTer19)
n.2262dup
n.2470dup
 gnomAD v4
1g.197427634G>ACA10581628CRB1c.2309G>A (p.Gly770Asp)
c.1190G>A (p.Gly397Asp)
c.452G>A (p.Gly151Asp)
c.1973G>A (p.Gly658Asp)
n.210G>A
c.2102G>A (p.Gly701Asp)
c.2128+5678G>A (n.2128+5678G>A)
n.2310G>A
n.2518G>A
c.1727G>A (p.Gly576Asp)
c.752G>A (p.Gly251Asp)
c.1466G>A (p.Gly489Asp)
n.2262G>A
n.2470G>A
 ClinVar dbSNP
1g.197427634G>CCA344036945CRB1c.2309G>C (p.Gly770Ala)
c.1190G>C (p.Gly397Ala)
c.452G>C (p.Gly151Ala)
c.1973G>C (p.Gly658Ala)
n.210G>C
c.2102G>C (p.Gly701Ala)
c.2128+5678G>C (n.2128+5678G>C)
n.2310G>C
n.2518G>C
c.1727G>C (p.Gly576Ala)
c.752G>C (p.Gly251Ala)
c.1466G>C (p.Gly489Ala)
n.2262G>C
n.2470G>C
 COSMIC
1g.197427634G=CA1218066114CRB1c.2309G= (p.Gly770=)
c.1190G= (p.Gly397=)
c.452G= (p.Gly151=)
c.1973G= (p.Gly658=)
n.210G=
c.2102G= (p.Gly701=)
c.2128+5678G= (n.2128+5678G=)
n.2310G=
n.2518G=
c.1727G= (p.Gly576=)
c.752G= (p.Gly251=)
c.1466G= (p.Gly489=)
n.2262G=
n.2470G=
1g.197427634G>TCA344036946CRB1c.2309G>T (p.Gly770Val)
c.1190G>T (p.Gly397Val)
c.452G>T (p.Gly151Val)
c.1973G>T (p.Gly658Val)
n.210G>T
c.2102G>T (p.Gly701Val)
c.2128+5678G>T (n.2128+5678G>T)
n.2310G>T
n.2518G>T
c.1727G>T (p.Gly576Val)
c.752G>T (p.Gly251Val)
c.1466G>T (p.Gly489Val)
n.2262G>T
n.2470G>T
1g.197427635C>ACA422809097CRB1c.2310C>A (p.Gly770=)
c.1191C>A (p.Gly397=)
c.453C>A (p.Gly151=)
c.1974C>A (p.Gly658=)
n.211C>A
c.2103C>A (p.Gly701=)
c.2128+5679C>A (n.2128+5679C>A)
n.2311C>A
n.2519C>A
c.1728C>A (p.Gly576=)
c.753C>A (p.Gly251=)
c.1467C>A (p.Gly489=)
n.2263C>A
n.2471C>A
1g.197427635C>GCA422809099CRB1c.2310C>G (p.Gly770=)
c.1191C>G (p.Gly397=)
c.453C>G (p.Gly151=)
c.1974C>G (p.Gly658=)
n.211C>G
c.2103C>G (p.Gly701=)
c.2128+5679C>G (n.2128+5679C>G)
n.2311C>G
n.2519C>G
c.1728C>G (p.Gly576=)
c.753C>G (p.Gly251=)
c.1467C>G (p.Gly489=)
n.2263C>G
n.2471C>G
1g.197427635C>TCA422809100CRB1c.2310C>T (p.Gly770=)
c.1191C>T (p.Gly397=)
c.453C>T (p.Gly151=)
c.1974C>T (p.Gly658=)
n.211C>T
c.2103C>T (p.Gly701=)
c.2128+5679C>T (n.2128+5679C>T)
n.2311C>T
n.2519C>T
c.1728C>T (p.Gly576=)
c.753C>T (p.Gly251=)
c.1467C>T (p.Gly489=)
n.2263C>T
n.2471C>T
1g.197427636A=CA1143640397CRB1c.2311A= (p.Arg771=)
c.1192A= (p.Arg398=)
c.454A= (p.Arg152=)
c.1975A= (p.Arg659=)
n.212A=
c.2104A= (p.Arg702=)
c.2128+5680A= (n.2128+5680A=)
n.2312A=
n.2520A=
c.1729A= (p.Arg577=)
c.754A= (p.Arg252=)
c.1468A= (p.Arg490=)
n.2264A=
n.2472A=
1g.197427636A>CCA422809101CRB1c.2311A>C (p.Arg771=)
c.1192A>C (p.Arg398=)
c.454A>C (p.Arg152=)
c.1975A>C (p.Arg659=)
n.212A>C
c.2104A>C (p.Arg702=)
c.2128+5680A>C (n.2128+5680A>C)
n.2312A>C
n.2520A>C
c.1729A>C (p.Arg577=)
c.754A>C (p.Arg252=)
c.1468A>C (p.Arg490=)
n.2264A>C
n.2472A>C
1g.197427636A>GCA1312099CRB1c.2311A>G (p.Arg771Gly)
c.1192A>G (p.Arg398Gly)
c.454A>G (p.Arg152Gly)
c.1975A>G (p.Arg659Gly)
n.212A>G
c.2104A>G (p.Arg702Gly)
c.2128+5680A>G (n.2128+5680A>G)
n.2312A>G
n.2520A>G
c.1729A>G (p.Arg577Gly)
c.754A>G (p.Arg252Gly)
c.1468A>G (p.Arg490Gly)
n.2264A>G
n.2472A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427636A>TCA344036947CRB1c.2311A>T (p.Arg771Ter)
c.1192A>T (p.Arg398Ter)
c.454A>T (p.Arg152Ter)
c.1975A>T (p.Arg659Ter)
n.212A>T
c.2104A>T (p.Arg702Ter)
c.2128+5680A>T (n.2128+5680A>T)
n.2312A>T
n.2520A>T
c.1729A>T (p.Arg577Ter)
c.754A>T (p.Arg252Ter)
c.1468A>T (p.Arg490Ter)
n.2264A>T
n.2472A>T
1g.197427637G>ACA344036948CRB1c.2312G>A (p.Arg771Lys)
c.1193G>A (p.Arg398Lys)
c.455G>A (p.Arg152Lys)
c.1976G>A (p.Arg659Lys)
n.213G>A
c.2105G>A (p.Arg702Lys)
c.2128+5681G>A (n.2128+5681G>A)
n.2313G>A
n.2521G>A
c.1730G>A (p.Arg577Lys)
c.755G>A (p.Arg252Lys)
c.1469G>A (p.Arg490Lys)
n.2265G>A
n.2473G>A
1g.197427637G>CCA344036949CRB1c.2312G>C (p.Arg771Thr)
c.1193G>C (p.Arg398Thr)
c.455G>C (p.Arg152Thr)
c.1976G>C (p.Arg659Thr)
n.213G>C
c.2105G>C (p.Arg702Thr)
c.2128+5681G>C (n.2128+5681G>C)
n.2313G>C
n.2521G>C
c.1730G>C (p.Arg577Thr)
c.755G>C (p.Arg252Thr)
c.1469G>C (p.Arg490Thr)
n.2265G>C
n.2473G>C
1g.197427637G>TCA344036950CRB1c.2312G>T (p.Arg771Ile)
c.1193G>T (p.Arg398Ile)
c.455G>T (p.Arg152Ile)
c.1976G>T (p.Arg659Ile)
n.213G>T
c.2105G>T (p.Arg702Ile)
c.2128+5681G>T (n.2128+5681G>T)
n.2313G>T
n.2521G>T
c.1730G>T (p.Arg577Ile)
c.755G>T (p.Arg252Ile)
c.1469G>T (p.Arg490Ile)
n.2265G>T
n.2473G>T
1g.197427638A>CCA344036951CRB1c.2313A>C (p.Arg771Ser)
c.1194A>C (p.Arg398Ser)
c.456A>C (p.Arg152Ser)
c.1977A>C (p.Arg659Ser)
n.214A>C
c.2106A>C (p.Arg702Ser)
c.2128+5682A>C (n.2128+5682A>C)
n.2314A>C
n.2522A>C
c.1731A>C (p.Arg577Ser)
c.756A>C (p.Arg252Ser)
c.1470A>C (p.Arg490Ser)
n.2266A>C
n.2474A>C
1g.197427638A>GCA422809107CRB1c.2313A>G (p.Arg771=)
c.1194A>G (p.Arg398=)
c.456A>G (p.Arg152=)
c.1977A>G (p.Arg659=)
n.214A>G
c.2106A>G (p.Arg702=)
c.2128+5682A>G (n.2128+5682A>G)
n.2314A>G
n.2522A>G
c.1731A>G (p.Arg577=)
c.756A>G (p.Arg252=)
c.1470A>G (p.Arg490=)
n.2266A>G
n.2474A>G
1g.197427638A>TCA344036952CRB1c.2313A>T (p.Arg771Ser)
c.1194A>T (p.Arg398Ser)
c.456A>T (p.Arg152Ser)
c.1977A>T (p.Arg659Ser)
n.214A>T
c.2106A>T (p.Arg702Ser)
c.2128+5682A>T (n.2128+5682A>T)
n.2314A>T
n.2522A>T
c.1731A>T (p.Arg577Ser)
c.756A>T (p.Arg252Ser)
c.1470A>T (p.Arg490Ser)
n.2266A>T
n.2474A>T
1g.197427639C>ACA1312100CRB1c.2314C>A (p.Leu772Ile)
c.1195C>A (p.Leu399Ile)
c.457C>A (p.Leu153Ile)
c.1978C>A (p.Leu660Ile)
n.215C>A
c.2107C>A (p.Leu703Ile)
c.2128+5683C>A (n.2128+5683C>A)
n.2315C>A
n.2523C>A
c.1732C>A (p.Leu578Ile)
c.757C>A (p.Leu253Ile)
c.1471C>A (p.Leu491Ile)
n.2267C>A
n.2475C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427639C=CA1218066119CRB1c.2314C= (p.Leu772=)
c.1195C= (p.Leu399=)
c.457C= (p.Leu153=)
c.1978C= (p.Leu660=)
n.215C=
c.2107C= (p.Leu703=)
c.2128+5683C= (n.2128+5683C=)
n.2315C=
n.2523C=
c.1732C= (p.Leu578=)
c.757C= (p.Leu253=)
c.1471C= (p.Leu491=)
n.2267C=
n.2475C=
1g.197427639C>GCA344036953CRB1c.2314C>G (p.Leu772Val)
c.1195C>G (p.Leu399Val)
c.457C>G (p.Leu153Val)
c.1978C>G (p.Leu660Val)
n.215C>G
c.2107C>G (p.Leu703Val)
c.2128+5683C>G (n.2128+5683C>G)
n.2315C>G
n.2523C>G
c.1732C>G (p.Leu578Val)
c.757C>G (p.Leu253Val)
c.1471C>G (p.Leu491Val)
n.2267C>G
n.2475C>G
 COSMIC COSMIC
1g.197427639C>TCA422809111CRB1c.2314C>T (p.Leu772=)
c.1195C>T (p.Leu399=)
c.457C>T (p.Leu153=)
c.1978C>T (p.Leu660=)
n.215C>T
c.2107C>T (p.Leu703=)
c.2128+5683C>T (n.2128+5683C>T)
n.2315C>T
n.2523C>T
c.1732C>T (p.Leu578=)
c.757C>T (p.Leu253=)
c.1471C>T (p.Leu491=)
n.2267C>T
n.2475C>T
1g.197427640T>ACA344036954CRB1c.2315T>A (p.Leu772Gln)
c.1196T>A (p.Leu399Gln)
c.458T>A (p.Leu153Gln)
c.1979T>A (p.Leu660Gln)
n.216T>A
c.2108T>A (p.Leu703Gln)
c.2128+5684T>A (n.2128+5684T>A)
n.2316T>A
n.2524T>A
c.1733T>A (p.Leu578Gln)
c.758T>A (p.Leu253Gln)
c.1472T>A (p.Leu491Gln)
n.2268T>A
n.2476T>A
1g.197427640T>CCA344036955CRB1c.2315T>C (p.Leu772Pro)
c.1196T>C (p.Leu399Pro)
c.458T>C (p.Leu153Pro)
c.1979T>C (p.Leu660Pro)
n.216T>C
c.2108T>C (p.Leu703Pro)
c.2128+5684T>C (n.2128+5684T>C)
n.2316T>C
n.2524T>C
c.1733T>C (p.Leu578Pro)
c.758T>C (p.Leu253Pro)
c.1472T>C (p.Leu491Pro)
n.2268T>C
n.2476T>C
1g.197427640T>GCA344036956CRB1c.2315T>G (p.Leu772Arg)
c.1196T>G (p.Leu399Arg)
c.458T>G (p.Leu153Arg)
c.1979T>G (p.Leu660Arg)
n.216T>G
c.2108T>G (p.Leu703Arg)
c.2128+5684T>G (n.2128+5684T>G)
n.2316T>G
n.2524T>G
c.1733T>G (p.Leu578Arg)
c.758T>G (p.Leu253Arg)
c.1472T>G (p.Leu491Arg)
n.2268T>G
n.2476T>G
1g.197427641A=CA1218066122CRB1c.2316A= (p.Leu772=)
c.1197A= (p.Leu399=)
c.459A= (p.Leu153=)
c.1980A= (p.Leu660=)
n.217A=
c.2109A= (p.Leu703=)
c.2128+5685A= (n.2128+5685A=)
n.2317A=
n.2525A=
c.1734A= (p.Leu578=)
c.759A= (p.Leu253=)
c.1473A= (p.Leu491=)
n.2269A=
n.2477A=
1g.197427641A>CCA422809119CRB1c.2316A>C (p.Leu772=)
c.1197A>C (p.Leu399=)
c.459A>C (p.Leu153=)
c.1980A>C (p.Leu660=)
n.217A>C
c.2109A>C (p.Leu703=)
c.2128+5685A>C (n.2128+5685A>C)
n.2317A>C
n.2525A>C
c.1734A>C (p.Leu578=)
c.759A>C (p.Leu253=)
c.1473A>C (p.Leu491=)
n.2269A>C
n.2477A>C
1g.197427641A>GCA35900609CRB1c.2316A>G (p.Leu772=)
c.1197A>G (p.Leu399=)
c.459A>G (p.Leu153=)
c.1980A>G (p.Leu660=)
n.217A>G
c.2109A>G (p.Leu703=)
c.2128+5685A>G (n.2128+5685A>G)
n.2317A>G
n.2525A>G
c.1734A>G (p.Leu578=)
c.759A>G (p.Leu253=)
c.1473A>G (p.Leu491=)
n.2269A>G
n.2477A>G
 ClinVar dbSNP gnomAD v4
1g.197427641A>TCA422809117CRB1c.2316A>T (p.Leu772=)
c.1197A>T (p.Leu399=)
c.459A>T (p.Leu153=)
c.1980A>T (p.Leu660=)
n.217A>T
c.2109A>T (p.Leu703=)
c.2128+5685A>T (n.2128+5685A>T)
n.2317A>T
n.2525A>T
c.1734A>T (p.Leu578=)
c.759A>T (p.Leu253=)
c.1473A>T (p.Leu491=)
n.2269A>T
n.2477A>T
1g.197427642G>ACA344036957CRB1c.2317G>A (p.Ala773Thr)
c.1198G>A (p.Ala400Thr)
c.460G>A (p.Ala154Thr)
c.1981G>A (p.Ala661Thr)
n.218G>A
c.2110G>A (p.Ala704Thr)
c.2128+5686G>A (n.2128+5686G>A)
n.2318G>A
n.2526G>A
c.1735G>A (p.Ala579Thr)
c.760G>A (p.Ala254Thr)
c.1474G>A (p.Ala492Thr)
n.2270G>A
n.2478G>A
 dbSNP gnomAD v3 gnomAD v4
1g.197427642G>CCA344036958CRB1c.2317G>C (p.Ala773Pro)
c.1198G>C (p.Ala400Pro)
c.460G>C (p.Ala154Pro)
c.1981G>C (p.Ala661Pro)
n.218G>C
c.2110G>C (p.Ala704Pro)
c.2128+5686G>C (n.2128+5686G>C)
n.2318G>C
n.2526G>C
c.1735G>C (p.Ala579Pro)
c.760G>C (p.Ala254Pro)
c.1474G>C (p.Ala492Pro)
n.2270G>C
n.2478G>C
1g.197427642G=CA1218066123CRB1c.2317G= (p.Ala773=)
c.1198G= (p.Ala400=)
c.460G= (p.Ala154=)
c.1981G= (p.Ala661=)
n.218G=
c.2110G= (p.Ala704=)
c.2128+5686G= (n.2128+5686G=)
n.2318G=
n.2526G=
c.1735G= (p.Ala579=)
c.760G= (p.Ala254=)
c.1474G= (p.Ala492=)
n.2270G=
n.2478G=
1g.197427642G>TCA344036959CRB1c.2317G>T (p.Ala773Ser)
c.1198G>T (p.Ala400Ser)
c.460G>T (p.Ala154Ser)
c.1981G>T (p.Ala661Ser)
n.218G>T
c.2110G>T (p.Ala704Ser)
c.2128+5686G>T (n.2128+5686G>T)
n.2318G>T
n.2526G>T
c.1735G>T (p.Ala579Ser)
c.760G>T (p.Ala254Ser)
c.1474G>T (p.Ala492Ser)
n.2270G>T
n.2478G>T
1g.197427643C>ACA344036962CRB1c.2318C>A (p.Ala773Glu)
c.1199C>A (p.Ala400Glu)
c.461C>A (p.Ala154Glu)
c.1982C>A (p.Ala661Glu)
n.219C>A
c.2111C>A (p.Ala704Glu)
c.2128+5687C>A (n.2128+5687C>A)
n.2319C>A
n.2527C>A
c.1736C>A (p.Ala579Glu)
c.761C>A (p.Ala254Glu)
c.1475C>A (p.Ala492Glu)
n.2271C>A
n.2479C>A
 gnomAD v4
1g.197427643C>GCA344036960CRB1c.2318C>G (p.Ala773Gly)
c.1199C>G (p.Ala400Gly)
c.461C>G (p.Ala154Gly)
c.1982C>G (p.Ala661Gly)
n.219C>G
c.2111C>G (p.Ala704Gly)
c.2128+5687C>G (n.2128+5687C>G)
n.2319C>G
n.2527C>G
c.1736C>G (p.Ala579Gly)
c.761C>G (p.Ala254Gly)
c.1475C>G (p.Ala492Gly)
n.2271C>G
n.2479C>G
1g.197427643C>TCA344036961CRB1c.2318C>T (p.Ala773Val)
c.1199C>T (p.Ala400Val)
c.461C>T (p.Ala154Val)
c.1982C>T (p.Ala661Val)
n.219C>T
c.2111C>T (p.Ala704Val)
c.2128+5687C>T (n.2128+5687C>T)
n.2319C>T
n.2527C>T
c.1736C>T (p.Ala579Val)
c.761C>T (p.Ala254Val)
c.1475C>T (p.Ala492Val)
n.2271C>T
n.2479C>T
1g.197427644A>CCA422809127CRB1c.2319A>C (p.Ala773=)
c.1200A>C (p.Ala400=)
c.462A>C (p.Ala154=)
c.1983A>C (p.Ala661=)
n.220A>C
c.2112A>C (p.Ala704=)
c.2128+5688A>C (n.2128+5688A>C)
n.2320A>C
n.2528A>C
c.1737A>C (p.Ala579=)
c.762A>C (p.Ala254=)
c.1476A>C (p.Ala492=)
n.2272A>C
n.2480A>C
1g.197427644A>GCA422809128CRB1c.2319A>G (p.Ala773=)
c.1200A>G (p.Ala400=)
c.462A>G (p.Ala154=)
c.1983A>G (p.Ala661=)
n.220A>G
c.2112A>G (p.Ala704=)
c.2128+5688A>G (n.2128+5688A>G)
n.2320A>G
n.2528A>G
c.1737A>G (p.Ala579=)
c.762A>G (p.Ala254=)
c.1476A>G (p.Ala492=)
n.2272A>G
n.2480A>G
1g.197427644A>TCA422809129CRB1c.2319A>T (p.Ala773=)
c.1200A>T (p.Ala400=)
c.462A>T (p.Ala154=)
c.1983A>T (p.Ala661=)
n.220A>T
c.2112A>T (p.Ala704=)
c.2128+5688A>T (n.2128+5688A>T)
n.2320A>T
n.2528A>T
c.1737A>T (p.Ala579=)
c.762A>T (p.Ala254=)
c.1476A>T (p.Ala492=)
n.2272A>T
n.2480A>T
1g.197427644_197427646delCA2649670117CRB1c.2319_2321del (p.Met774del)
c.1200_1202del (p.Met401del)
c.462_464del (p.Met155del)
c.1983_1985del (p.Met662del)
n.220_222del
c.2112_2114del (p.Met705del)
c.2128+5688_2128+5690del (n.2128+5688_2128+5690del)
n.2320_2322del
n.2528_2530del
c.1737_1739del (p.Met580del)
c.762_764del (p.Met255del)
c.1476_1478del (p.Met493del)
n.2272_2274del
n.2480_2482del
 gnomAD v4
1g.197427645A>CCA344036963CRB1c.2320A>C (p.Met774Leu)
c.1201A>C (p.Met401Leu)
c.463A>C (p.Met155Leu)
c.1984A>C (p.Met662Leu)
n.221A>C
c.2113A>C (p.Met705Leu)
c.2128+5689A>C (n.2128+5689A>C)
n.2321A>C
n.2529A>C
c.1738A>C (p.Met580Leu)
c.763A>C (p.Met255Leu)
c.1477A>C (p.Met493Leu)
n.2273A>C
n.2481A>C
1g.197427645A>GCA344036964CRB1c.2320A>G (p.Met774Val)
c.1201A>G (p.Met401Val)
c.463A>G (p.Met155Val)
c.1984A>G (p.Met662Val)
n.221A>G
c.2113A>G (p.Met705Val)
c.2128+5689A>G (n.2128+5689A>G)
n.2321A>G
n.2529A>G
c.1738A>G (p.Met580Val)
c.763A>G (p.Met255Val)
c.1477A>G (p.Met493Val)
n.2273A>G
n.2481A>G
1g.197427645A>TCA344036965CRB1c.2320A>T (p.Met774Leu)
c.1201A>T (p.Met401Leu)
c.463A>T (p.Met155Leu)
c.1984A>T (p.Met662Leu)
n.221A>T
c.2113A>T (p.Met705Leu)
c.2128+5689A>T (n.2128+5689A>T)
n.2321A>T
n.2529A>T
c.1738A>T (p.Met580Leu)
c.763A>T (p.Met255Leu)
c.1477A>T (p.Met493Leu)
n.2273A>T
n.2481A>T
1g.197427646T>ACA344036966CRB1c.2321T>A (p.Met774Lys)
c.1202T>A (p.Met401Lys)
c.464T>A (p.Met155Lys)
c.1985T>A (p.Met662Lys)
n.222T>A
c.2114T>A (p.Met705Lys)
c.2128+5690T>A (n.2128+5690T>A)
n.2322T>A
n.2530T>A
c.1739T>A (p.Met580Lys)
c.764T>A (p.Met255Lys)
c.1478T>A (p.Met493Lys)
n.2274T>A
n.2482T>A
1g.197427646T>CCA344036967CRB1c.2321T>C (p.Met774Thr)
c.1202T>C (p.Met401Thr)
c.464T>C (p.Met155Thr)
c.1985T>C (p.Met662Thr)
n.222T>C
c.2114T>C (p.Met705Thr)
c.2128+5690T>C (n.2128+5690T>C)
n.2322T>C
n.2530T>C
c.1739T>C (p.Met580Thr)
c.764T>C (p.Met255Thr)
c.1478T>C (p.Met493Thr)
n.2274T>C
n.2482T>C
1g.197427646T>GCA344036968CRB1c.2321T>G (p.Met774Arg)
c.1202T>G (p.Met401Arg)
c.464T>G (p.Met155Arg)
c.1985T>G (p.Met662Arg)
n.222T>G
c.2114T>G (p.Met705Arg)
c.2128+5690T>G (n.2128+5690T>G)
n.2322T>G
n.2530T>G
c.1739T>G (p.Met580Arg)
c.764T>G (p.Met255Arg)
c.1478T>G (p.Met493Arg)
n.2274T>G
n.2482T>G
1g.197427647G>ACA1312101CRB1c.2322G>A (p.Met774Ile)
c.1203G>A (p.Met401Ile)
c.465G>A (p.Met155Ile)
c.1986G>A (p.Met662Ile)
n.223G>A
c.2115G>A (p.Met705Ile)
c.2128+5691G>A (n.2128+5691G>A)
n.2323G>A
n.2531G>A
c.1740G>A (p.Met580Ile)
c.765G>A (p.Met255Ile)
c.1479G>A (p.Met493Ile)
n.2275G>A
n.2483G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197427647G>CCA344036969CRB1c.2322G>C (p.Met774Ile)
c.1203G>C (p.Met401Ile)
c.465G>C (p.Met155Ile)
c.1986G>C (p.Met662Ile)
n.223G>C
c.2115G>C (p.Met705Ile)
c.2128+5691G>C (n.2128+5691G>C)
n.2323G>C
n.2531G>C
c.1740G>C (p.Met580Ile)
c.765G>C (p.Met255Ile)
c.1479G>C (p.Met493Ile)
n.2275G>C
n.2483G>C
 gnomAD v4
1g.197427647G=CA1147568552CRB1c.2322G= (p.Met774=)
c.1203G= (p.Met401=)
c.465G= (p.Met155=)
c.1986G= (p.Met662=)
n.223G=
c.2115G= (p.Met705=)
c.2128+5691G= (n.2128+5691G=)
n.2323G=
n.2531G=
c.1740G= (p.Met580=)
c.765G= (p.Met255=)
c.1479G= (p.Met493=)
n.2275G=
n.2483G=
1g.197427647G>TCA344036970CRB1c.2322G>T (p.Met774Ile)
c.1203G>T (p.Met401Ile)
c.465G>T (p.Met155Ile)
c.1986G>T (p.Met662Ile)
n.223G>T
c.2115G>T (p.Met705Ile)
c.2128+5691G>T (n.2128+5691G>T)
n.2323G>T
n.2531G>T
c.1740G>T (p.Met580Ile)
c.765G>T (p.Met255Ile)
c.1479G>T (p.Met493Ile)
n.2275G>T
n.2483G>T
1g.197427648C>ACA344036971CRB1c.2323C>A (p.Leu775Met)
c.1204C>A (p.Leu402Met)
c.466C>A (p.Leu156Met)
c.1987C>A (p.Leu663Met)
n.224C>A
c.2116C>A (p.Leu706Met)
c.2128+5692C>A (n.2128+5692C>A)
n.2324C>A
n.2532C>A
c.1741C>A (p.Leu581Met)
c.766C>A (p.Leu256Met)
c.1480C>A (p.Leu494Met)
n.2276C>A
n.2484C>A
1g.197427648C>GCA344036972CRB1c.2323C>G (p.Leu775Val)
c.1204C>G (p.Leu402Val)
c.466C>G (p.Leu156Val)
c.1987C>G (p.Leu663Val)
n.224C>G
c.2116C>G (p.Leu706Val)
c.2128+5692C>G (n.2128+5692C>G)
n.2324C>G
n.2532C>G
c.1741C>G (p.Leu581Val)
c.766C>G (p.Leu256Val)
c.1480C>G (p.Leu494Val)
n.2276C>G
n.2484C>G
1g.197427648C>TCA422809142CRB1c.2323C>T (p.Leu775=)
c.1204C>T (p.Leu402=)
c.466C>T (p.Leu156=)
c.1987C>T (p.Leu663=)
n.224C>T
c.2116C>T (p.Leu706=)
c.2128+5692C>T (n.2128+5692C>T)
n.2324C>T
n.2532C>T
c.1741C>T (p.Leu581=)
c.766C>T (p.Leu256=)
c.1480C>T (p.Leu494=)
n.2276C>T
n.2484C>T
1g.197427649T>ACA344036973CRB1c.2324T>A (p.Leu775Gln)
c.1205T>A (p.Leu402Gln)
c.467T>A (p.Leu156Gln)
c.1988T>A (p.Leu663Gln)
n.225T>A
c.2117T>A (p.Leu706Gln)
c.2128+5693T>A (n.2128+5693T>A)
n.2325T>A
n.2533T>A
c.1742T>A (p.Leu581Gln)
c.767T>A (p.Leu256Gln)
c.1481T>A (p.Leu494Gln)
n.2277T>A
n.2485T>A
1g.197427649T>CCA344036975CRB1c.2324T>C (p.Leu775Pro)
c.1205T>C (p.Leu402Pro)
c.467T>C (p.Leu156Pro)
c.1988T>C (p.Leu663Pro)
n.225T>C
c.2117T>C (p.Leu706Pro)
c.2128+5693T>C (n.2128+5693T>C)
n.2325T>C
n.2533T>C
c.1742T>C (p.Leu581Pro)
c.767T>C (p.Leu256Pro)
c.1481T>C (p.Leu494Pro)
n.2277T>C
n.2485T>C
1g.197427649T>GCA344036974CRB1c.2324T>G (p.Leu775Arg)
c.1205T>G (p.Leu402Arg)
c.467T>G (p.Leu156Arg)
c.1988T>G (p.Leu663Arg)
n.225T>G
c.2117T>G (p.Leu706Arg)
c.2128+5693T>G (n.2128+5693T>G)
n.2325T>G
n.2533T>G
c.1742T>G (p.Leu581Arg)
c.767T>G (p.Leu256Arg)
c.1481T>G (p.Leu494Arg)
n.2277T>G
n.2485T>G
 dbSNP gnomAD v2 gnomAD v4
1g.197427649T=CA1218066125CRB1c.2324T= (p.Leu775=)
c.1205T= (p.Leu402=)
c.467T= (p.Leu156=)
c.1988T= (p.Leu663=)
n.225T=
c.2117T= (p.Leu706=)
c.2128+5693T= (n.2128+5693T=)
n.2325T=
n.2533T=
c.1742T= (p.Leu581=)
c.767T= (p.Leu256=)
c.1481T= (p.Leu494=)
n.2277T=
n.2485T=
1g.197427650G>ACA422809147CRB1c.2325G>A (p.Leu775=)
c.1206G>A (p.Leu402=)
c.468G>A (p.Leu156=)
c.1989G>A (p.Leu663=)
n.226G>A
c.2118G>A (p.Leu706=)
c.2128+5694G>A (n.2128+5694G>A)
n.2326G>A
n.2534G>A
c.1743G>A (p.Leu581=)
c.768G>A (p.Leu256=)
c.1482G>A (p.Leu494=)
n.2278G>A
n.2486G>A
 gnomAD v4
1g.197427650G>CCA422809148CRB1c.2325G>C (p.Leu775=)
c.1206G>C (p.Leu402=)
c.468G>C (p.Leu156=)
c.1989G>C (p.Leu663=)
n.226G>C
c.2118G>C (p.Leu706=)
c.2128+5694G>C (n.2128+5694G>C)
n.2326G>C
n.2534G>C
c.1743G>C (p.Leu581=)
c.768G>C (p.Leu256=)
c.1482G>C (p.Leu494=)
n.2278G>C
n.2486G>C
1g.197427650G>TCA422809150CRB1c.2325G>T (p.Leu775=)
c.1206G>T (p.Leu402=)
c.468G>T (p.Leu156=)
c.1989G>T (p.Leu663=)
n.226G>T
c.2118G>T (p.Leu706=)
c.2128+5694G>T (n.2128+5694G>T)
n.2326G>T
n.2534G>T
c.1743G>T (p.Leu581=)
c.768G>T (p.Leu256=)
c.1482G>T (p.Leu494=)
n.2278G>T
n.2486G>T
 gnomAD v4
1g.197427650_197427657delinsGACTCCAACA1218066129CRB1c.2325_2332delinsGACTCCAA (p.Leu775=)
c.1206_1213delinsGACTCCAA (p.Leu402=)
c.468_475delinsGACTCCAA (p.Leu156=)
c.1989_1996delinsGACTCCAA (p.Leu663=)
n.226_233delinsGACTCCAA
c.2118_2125delinsGACTCCAA (p.Leu706=)
c.2128+5694_2128+5701delinsGACTCCAA (n.2128+5694_2128+5701delinsGACTCCAA)
n.2326_2333delinsGACTCCAA
n.2534_2541delinsGACTCCAA
c.1743_1750delinsGACTCCAA (p.Leu581=)
c.768_775delinsGACTCCAA (p.Leu256=)
c.1482_1489delinsGACTCCAA (p.Leu494=)
n.2278_2285delinsGACTCCAA
n.2486_2493delinsGACTCCAA
1g.197427651A>CCA344036976CRB1c.2326A>C (p.Thr776Pro)
c.1207A>C (p.Thr403Pro)
c.469A>C (p.Thr157Pro)
c.1990A>C (p.Thr664Pro)
n.227A>C
c.2119A>C (p.Thr707Pro)
c.2128+5695A>C (n.2128+5695A>C)
n.2327A>C
n.2535A>C
c.1744A>C (p.Thr582Pro)
c.769A>C (p.Thr257Pro)
c.1483A>C (p.Thr495Pro)
n.2279A>C
n.2487A>C
1g.197427651A>GCA344036977CRB1c.2326A>G (p.Thr776Ala)
c.1207A>G (p.Thr403Ala)
c.469A>G (p.Thr157Ala)
c.1990A>G (p.Thr664Ala)
n.227A>G
c.2119A>G (p.Thr707Ala)
c.2128+5695A>G (n.2128+5695A>G)
n.2327A>G
n.2535A>G
c.1744A>G (p.Thr582Ala)
c.769A>G (p.Thr257Ala)
c.1483A>G (p.Thr495Ala)
n.2279A>G
n.2487A>G
1g.197427651A>TCA344036978CRB1c.2326A>T (p.Thr776Ser)
c.1207A>T (p.Thr403Ser)
c.469A>T (p.Thr157Ser)
c.1990A>T (p.Thr664Ser)
n.227A>T
c.2119A>T (p.Thr707Ser)
c.2128+5695A>T (n.2128+5695A>T)
n.2327A>T
n.2535A>T
c.1744A>T (p.Thr582Ser)
c.769A>T (p.Thr257Ser)
c.1483A>T (p.Thr495Ser)
n.2279A>T
n.2487A>T
1g.197427655_197427661delCA236376CRB1c.2330_2336del (p.Pro777LeufsTer4)
c.1211_1217del (p.Pro404LeufsTer4)
c.473_479del (p.Pro158LeufsTer4)
c.1994_2000del (p.Pro665LeufsTer4)
n.231_237del
c.2123_2129del (p.Pro708LeufsTer4)
c.2128+5699_2128+5705del (n.2128+5699_2128+5705del)
n.2331_2337del
n.2539_2545del
c.1748_1754del (p.Pro583LeufsTer4)
c.773_779del (p.Pro258LeufsTer4)
c.1487_1493del (p.Pro496LeufsTer4)
n.2283_2289del
n.2491_2497del
 ClinVar dbSNP
1g.197427652C>ACA344036981CRB1c.2327C>A (p.Thr776Asn)
c.1208C>A (p.Thr403Asn)
c.470C>A (p.Thr157Asn)
c.1991C>A (p.Thr664Asn)
n.228C>A
c.2120C>A (p.Thr707Asn)
c.2128+5696C>A (n.2128+5696C>A)
n.2328C>A
n.2536C>A
c.1745C>A (p.Thr582Asn)
c.770C>A (p.Thr257Asn)
c.1484C>A (p.Thr495Asn)
n.2280C>A
n.2488C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427652C=CA1218066134CRB1c.2327C= (p.Thr776=)
c.1208C= (p.Thr403=)
c.470C= (p.Thr157=)
c.1991C= (p.Thr664=)
n.228C=
c.2120C= (p.Thr707=)
c.2128+5696C= (n.2128+5696C=)
n.2328C=
n.2536C=
c.1745C= (p.Thr582=)
c.770C= (p.Thr257=)
c.1484C= (p.Thr495=)
n.2280C=
n.2488C=
1g.197427652C>GCA344036979CRB1c.2327C>G (p.Thr776Ser)
c.1208C>G (p.Thr403Ser)
c.470C>G (p.Thr157Ser)
c.1991C>G (p.Thr664Ser)
n.228C>G
c.2120C>G (p.Thr707Ser)
c.2128+5696C>G (n.2128+5696C>G)
n.2328C>G
n.2536C>G
c.1745C>G (p.Thr582Ser)
c.770C>G (p.Thr257Ser)
c.1484C>G (p.Thr495Ser)
n.2280C>G
n.2488C>G
1g.197427652C>TCA344036980CRB1c.2327C>T (p.Thr776Ile)
c.1208C>T (p.Thr403Ile)
c.470C>T (p.Thr157Ile)
c.1991C>T (p.Thr664Ile)
n.228C>T
c.2120C>T (p.Thr707Ile)
c.2128+5696C>T (n.2128+5696C>T)
n.2328C>T
n.2536C>T
c.1745C>T (p.Thr582Ile)
c.770C>T (p.Thr257Ile)
c.1484C>T (p.Thr495Ile)
n.2280C>T
n.2488C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427653T>ACA422809159CRB1c.2328T>A (p.Thr776=)
c.1209T>A (p.Thr403=)
c.471T>A (p.Thr157=)
c.1992T>A (p.Thr664=)
n.229T>A
c.2121T>A (p.Thr707=)
c.2128+5697T>A (n.2128+5697T>A)
n.2329T>A
n.2537T>A
c.1746T>A (p.Thr582=)
c.771T>A (p.Thr257=)
c.1485T>A (p.Thr495=)
n.2281T>A
n.2489T>A
1g.197427653T>CCA422809160CRB1c.2328T>C (p.Thr776=)
c.1209T>C (p.Thr403=)
c.471T>C (p.Thr157=)
c.1992T>C (p.Thr664=)
n.229T>C
c.2121T>C (p.Thr707=)
c.2128+5697T>C (n.2128+5697T>C)
n.2329T>C
n.2537T>C
c.1746T>C (p.Thr582=)
c.771T>C (p.Thr257=)
c.1485T>C (p.Thr495=)
n.2281T>C
n.2489T>C
 ClinVar
1g.197427653T>GCA422809161CRB1c.2328T>G (p.Thr776=)
c.1209T>G (p.Thr403=)
c.471T>G (p.Thr157=)
c.1992T>G (p.Thr664=)
n.229T>G
c.2121T>G (p.Thr707=)
c.2128+5697T>G (n.2128+5697T>G)
n.2329T>G
n.2537T>G
c.1746T>G (p.Thr582=)
c.771T>G (p.Thr257=)
c.1485T>G (p.Thr495=)
n.2281T>G
n.2489T>G
1g.197427654C>ACA344036982CRB1c.2329C>A (p.Pro777Thr)
c.1210C>A (p.Pro404Thr)
c.472C>A (p.Pro158Thr)
c.1993C>A (p.Pro665Thr)
n.230C>A
c.2122C>A (p.Pro708Thr)
c.2128+5698C>A (n.2128+5698C>A)
n.2330C>A
n.2538C>A
c.1747C>A (p.Pro583Thr)
c.772C>A (p.Pro258Thr)
c.1486C>A (p.Pro496Thr)
n.2282C>A
n.2490C>A
1g.197427654C=CA1218066136CRB1c.2329C= (p.Pro777=)
c.1210C= (p.Pro404=)
c.472C= (p.Pro158=)
c.1993C= (p.Pro665=)
n.230C=
c.2122C= (p.Pro708=)
c.2128+5698C= (n.2128+5698C=)
n.2330C=
n.2538C=
c.1747C= (p.Pro583=)
c.772C= (p.Pro258=)
c.1486C= (p.Pro496=)
n.2282C=
n.2490C=
1g.197427654C>GCA1312102CRB1c.2329C>G (p.Pro777Ala)
c.1210C>G (p.Pro404Ala)
c.472C>G (p.Pro158Ala)
c.1993C>G (p.Pro665Ala)
n.230C>G
c.2122C>G (p.Pro708Ala)
c.2128+5698C>G (n.2128+5698C>G)
n.2330C>G
n.2538C>G
c.1747C>G (p.Pro583Ala)
c.772C>G (p.Pro258Ala)
c.1486C>G (p.Pro496Ala)
n.2282C>G
n.2490C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427654C>TCA344036983CRB1c.2329C>T (p.Pro777Ser)
c.1210C>T (p.Pro404Ser)
c.472C>T (p.Pro158Ser)
c.1993C>T (p.Pro665Ser)
n.230C>T
c.2122C>T (p.Pro708Ser)
c.2128+5698C>T (n.2128+5698C>T)
n.2330C>T
n.2538C>T
c.1747C>T (p.Pro583Ser)
c.772C>T (p.Pro258Ser)
c.1486C>T (p.Pro496Ser)
n.2282C>T
n.2490C>T
 gnomAD v4
1g.197427655C>ACA344036984CRB1c.2330C>A (p.Pro777Gln)
c.1211C>A (p.Pro404Gln)
c.473C>A (p.Pro158Gln)
c.1994C>A (p.Pro665Gln)
n.231C>A
c.2123C>A (p.Pro708Gln)
c.2128+5699C>A (n.2128+5699C>A)
n.2331C>A
n.2539C>A
c.1748C>A (p.Pro583Gln)
c.773C>A (p.Pro258Gln)
c.1487C>A (p.Pro496Gln)
n.2283C>A
n.2491C>A
1g.197427655C=CA1218066139CRB1c.2330C= (p.Pro777=)
c.1211C= (p.Pro404=)
c.473C= (p.Pro158=)
c.1994C= (p.Pro665=)
n.231C=
c.2123C= (p.Pro708=)
c.2128+5699C= (n.2128+5699C=)
n.2331C=
n.2539C=
c.1748C= (p.Pro583=)
c.773C= (p.Pro258=)
c.1487C= (p.Pro496=)
n.2283C=
n.2491C=
1g.197427655C>GCA344036985CRB1c.2330C>G (p.Pro777Arg)
c.1211C>G (p.Pro404Arg)
c.473C>G (p.Pro158Arg)
c.1994C>G (p.Pro665Arg)
n.231C>G
c.2123C>G (p.Pro708Arg)
c.2128+5699C>G (n.2128+5699C>G)
n.2331C>G
n.2539C>G
c.1748C>G (p.Pro583Arg)
c.773C>G (p.Pro258Arg)
c.1487C>G (p.Pro496Arg)
n.2283C>G
n.2491C>G
1g.197427655C>TCA10609329CRB1c.2330C>T (p.Pro777Leu)
c.1211C>T (p.Pro404Leu)
c.473C>T (p.Pro158Leu)
c.1994C>T (p.Pro665Leu)
n.231C>T
c.2123C>T (p.Pro708Leu)
c.2128+5699C>T (n.2128+5699C>T)
n.2331C>T
n.2539C>T
c.1748C>T (p.Pro583Leu)
c.773C>T (p.Pro258Leu)
c.1487C>T (p.Pro496Leu)
n.2283C>T
n.2491C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427656A>CCA422809168CRB1c.2331A>C (p.Pro777=)
c.1212A>C (p.Pro404=)
c.474A>C (p.Pro158=)
c.1995A>C (p.Pro665=)
n.232A>C
c.2124A>C (p.Pro708=)
c.2128+5700A>C (n.2128+5700A>C)
n.2332A>C
n.2540A>C
c.1749A>C (p.Pro583=)
c.774A>C (p.Pro258=)
c.1488A>C (p.Pro496=)
n.2284A>C
n.2492A>C
1g.197427656A>GCA422809170CRB1c.2331A>G (p.Pro777=)
c.1212A>G (p.Pro404=)
c.474A>G (p.Pro158=)
c.1995A>G (p.Pro665=)
n.232A>G
c.2124A>G (p.Pro708=)
c.2128+5700A>G (n.2128+5700A>G)
n.2332A>G
n.2540A>G
c.1749A>G (p.Pro583=)
c.774A>G (p.Pro258=)
c.1488A>G (p.Pro496=)
n.2284A>G
n.2492A>G
1g.197427656A>TCA422809172CRB1c.2331A>T (p.Pro777=)
c.1212A>T (p.Pro404=)
c.474A>T (p.Pro158=)
c.1995A>T (p.Pro665=)
n.232A>T
c.2124A>T (p.Pro708=)
c.2128+5700A>T (n.2128+5700A>T)
n.2332A>T
n.2540A>T
c.1749A>T (p.Pro583=)
c.774A>T (p.Pro258=)
c.1488A>T (p.Pro496=)
n.2284A>T
n.2492A>T
1g.197427657A=CA1142382299CRB1c.2332A= (p.Asn778=)
c.1213A= (p.Asn405=)
c.475A= (p.Asn159=)
c.1996A= (p.Asn666=)
n.233A=
c.2125A= (p.Asn709=)
c.2128+5701A= (n.2128+5701A=)
n.2333A=
n.2541A=
c.1750A= (p.Asn584=)
c.775A= (p.Asn259=)
c.1489A= (p.Asn497=)
n.2285A=
n.2493A=
1g.197427657A>CCA344036986CRB1c.2332A>C (p.Asn778His)
c.1213A>C (p.Asn405His)
c.475A>C (p.Asn159His)
c.1996A>C (p.Asn666His)
n.233A>C
c.2125A>C (p.Asn709His)
c.2128+5701A>C (n.2128+5701A>C)
n.2333A>C
n.2541A>C
c.1750A>C (p.Asn584His)
c.775A>C (p.Asn259His)
c.1489A>C (p.Asn497His)
n.2285A>C
n.2493A>C
1g.197427657A>GCA1312103CRB1c.2332A>G (p.Asn778Asp)
c.1213A>G (p.Asn405Asp)
c.475A>G (p.Asn159Asp)
c.1996A>G (p.Asn666Asp)
n.233A>G
c.2125A>G (p.Asn709Asp)
c.2128+5701A>G (n.2128+5701A>G)
n.2333A>G
n.2541A>G
c.1750A>G (p.Asn584Asp)
c.775A>G (p.Asn259Asp)
c.1489A>G (p.Asn497Asp)
n.2285A>G
n.2493A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427657A>TCA35900696CRB1c.2332A>T (p.Asn778Tyr)
c.1213A>T (p.Asn405Tyr)
c.475A>T (p.Asn159Tyr)
c.1996A>T (p.Asn666Tyr)
n.233A>T
c.2125A>T (p.Asn709Tyr)
c.2128+5701A>T (n.2128+5701A>T)
n.2333A>T
n.2541A>T
c.1750A>T (p.Asn584Tyr)
c.775A>T (p.Asn259Tyr)
c.1489A>T (p.Asn497Tyr)
n.2285A>T
n.2493A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427658A=CA1218066144CRB1c.2333A= (p.Asn778=)
c.1214A= (p.Asn405=)
c.476A= (p.Asn159=)
c.1997A= (p.Asn666=)
n.234A=
c.2126A= (p.Asn709=)
c.2128+5702A= (n.2128+5702A=)
n.2334A=
n.2542A=
c.1751A= (p.Asn584=)
c.776A= (p.Asn259=)
c.1490A= (p.Asn497=)
n.2286A=
n.2494A=
1g.197427658A>CCA344036987CRB1c.2333A>C (p.Asn778Thr)
c.1214A>C (p.Asn405Thr)
c.476A>C (p.Asn159Thr)
c.1997A>C (p.Asn666Thr)
n.234A>C
c.2126A>C (p.Asn709Thr)
c.2128+5702A>C (n.2128+5702A>C)
n.2334A>C
n.2542A>C
c.1751A>C (p.Asn584Thr)
c.776A>C (p.Asn259Thr)
c.1490A>C (p.Asn497Thr)
n.2286A>C
n.2494A>C
1g.197427658A>GCA344036988CRB1c.2333A>G (p.Asn778Ser)
c.1214A>G (p.Asn405Ser)
c.476A>G (p.Asn159Ser)
c.1997A>G (p.Asn666Ser)
n.234A>G
c.2126A>G (p.Asn709Ser)
c.2128+5702A>G (n.2128+5702A>G)
n.2334A>G
n.2542A>G
c.1751A>G (p.Asn584Ser)
c.776A>G (p.Asn259Ser)
c.1490A>G (p.Asn497Ser)
n.2286A>G
n.2494A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197427658A>TCA344036989CRB1c.2333A>T (p.Asn778Ile)
c.1214A>T (p.Asn405Ile)
c.476A>T (p.Asn159Ile)
c.1997A>T (p.Asn666Ile)
n.234A>T
c.2126A>T (p.Asn709Ile)
c.2128+5702A>T (n.2128+5702A>T)
n.2334A>T
n.2542A>T
c.1751A>T (p.Asn584Ile)
c.776A>T (p.Asn259Ile)
c.1490A>T (p.Asn497Ile)
n.2286A>T
n.2494A>T
 gnomAD v4
1g.197427659C>ACA344036990CRB1c.2334C>A (p.Asn778Lys)
c.1215C>A (p.Asn405Lys)
c.477C>A (p.Asn159Lys)
c.1998C>A (p.Asn666Lys)
n.235C>A
c.2127C>A (p.Asn709Lys)
c.2128+5703C>A (n.2128+5703C>A)
n.2335C>A
n.2543C>A
c.1752C>A (p.Asn584Lys)
c.777C>A (p.Asn259Lys)
c.1491C>A (p.Asn497Lys)
n.2287C>A
n.2495C>A
1g.197427659C=CA1218066145CRB1c.2334C= (p.Asn778=)
c.1215C= (p.Asn405=)
c.477C= (p.Asn159=)
c.1998C= (p.Asn666=)
n.235C=
c.2127C= (p.Asn709=)
c.2128+5703C= (n.2128+5703C=)
n.2335C=
n.2543C=
c.1752C= (p.Asn584=)
c.777C= (p.Asn259=)
c.1491C= (p.Asn497=)
n.2287C=
n.2495C=
1g.197427659C>GCA1312104CRB1c.2334C>G (p.Asn778Lys)
c.1215C>G (p.Asn405Lys)
c.477C>G (p.Asn159Lys)
c.1998C>G (p.Asn666Lys)
n.235C>G
c.2127C>G (p.Asn709Lys)
c.2128+5703C>G (n.2128+5703C>G)
n.2335C>G
n.2543C>G
c.1752C>G (p.Asn584Lys)
c.777C>G (p.Asn259Lys)
c.1491C>G (p.Asn497Lys)
n.2287C>G
n.2495C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427659C>TCA422809177CRB1c.2334C>T (p.Asn778=)
c.1215C>T (p.Asn405=)
c.477C>T (p.Asn159=)
c.1998C>T (p.Asn666=)
n.235C>T
c.2127C>T (p.Asn709=)
c.2128+5703C>T (n.2128+5703C>T)
n.2335C>T
n.2543C>T
c.1752C>T (p.Asn584=)
c.777C>T (p.Asn259=)
c.1491C>T (p.Asn497=)
n.2287C>T
n.2495C>T
 ClinVar dbSNP gnomAD v4
1g.197427660T>ACA344036991CRB1c.2335T>A (p.Ser779Thr)
c.1216T>A (p.Ser406Thr)
c.478T>A (p.Ser160Thr)
c.1999T>A (p.Ser667Thr)
n.236T>A
c.2128T>A (p.Ser710Thr)
c.2128+5704T>A (n.2128+5704T>A)
n.2336T>A
n.2544T>A
c.1753T>A (p.Ser585Thr)
c.778T>A (p.Ser260Thr)
c.1492T>A (p.Ser498Thr)
n.2288T>A
n.2496T>A
1g.197427660T>CCA344036992CRB1c.2335T>C (p.Ser779Pro)
c.1216T>C (p.Ser406Pro)
c.478T>C (p.Ser160Pro)
c.1999T>C (p.Ser667Pro)
n.236T>C
c.2128T>C (p.Ser710Pro)
c.2128+5704T>C (n.2128+5704T>C)
n.2336T>C
n.2544T>C
c.1753T>C (p.Ser585Pro)
c.778T>C (p.Ser260Pro)
c.1492T>C (p.Ser498Pro)
n.2288T>C
n.2496T>C
1g.197427660T>GCA344036993CRB1c.2335T>G (p.Ser779Ala)
c.1216T>G (p.Ser406Ala)
c.478T>G (p.Ser160Ala)
c.1999T>G (p.Ser667Ala)
n.236T>G
c.2128T>G (p.Ser710Ala)
c.2128+5704T>G (n.2128+5704T>G)
n.2336T>G
n.2544T>G
c.1753T>G (p.Ser585Ala)
c.778T>G (p.Ser260Ala)
c.1492T>G (p.Ser498Ala)
n.2288T>G
n.2496T>G
1g.197427661C>ACA344036994CRB1c.2336C>A (p.Ser779Tyr)
c.1217C>A (p.Ser406Tyr)
c.479C>A (p.Ser160Tyr)
c.2000C>A (p.Ser667Tyr)
n.237C>A
c.2129C>A (p.Ser710Tyr)
c.2128+5705C>A (n.2128+5705C>A)
n.2337C>A
n.2545C>A
c.1754C>A (p.Ser585Tyr)
c.779C>A (p.Ser260Tyr)
c.1493C>A (p.Ser498Tyr)
n.2289C>A
n.2497C>A
1g.197427661C>GCA344036995CRB1c.2336C>G (p.Ser779Cys)
c.1217C>G (p.Ser406Cys)
c.479C>G (p.Ser160Cys)
c.2000C>G (p.Ser667Cys)
n.237C>G
c.2129C>G (p.Ser710Cys)
c.2128+5705C>G (n.2128+5705C>G)
n.2337C>G
n.2545C>G
c.1754C>G (p.Ser585Cys)
c.779C>G (p.Ser260Cys)
c.1493C>G (p.Ser498Cys)
n.2289C>G
n.2497C>G
1g.197427661C>TCA344036996CRB1c.2336C>T (p.Ser779Phe)
c.1217C>T (p.Ser406Phe)
c.479C>T (p.Ser160Phe)
c.2000C>T (p.Ser667Phe)
n.237C>T
c.2129C>T (p.Ser710Phe)
c.2128+5705C>T (n.2128+5705C>T)
n.2337C>T
n.2545C>T
c.1754C>T (p.Ser585Phe)
c.779C>T (p.Ser260Phe)
c.1493C>T (p.Ser498Phe)
n.2289C>T
n.2497C>T
1g.197427662T>ACA422809185CRB1c.2337T>A (p.Ser779=)
c.1218T>A (p.Ser406=)
c.480T>A (p.Ser160=)
c.2001T>A (p.Ser667=)
n.238T>A
c.2130T>A (p.Ser710=)
c.2128+5706T>A (n.2128+5706T>A)
n.2338T>A
n.2546T>A
c.1755T>A (p.Ser585=)
c.780T>A (p.Ser260=)
c.1494T>A (p.Ser498=)
n.2290T>A
n.2498T>A
1g.197427662T>CCA35900710CRB1c.2337T>C (p.Ser779=)
c.1218T>C (p.Ser406=)
c.480T>C (p.Ser160=)
c.2001T>C (p.Ser667=)
n.238T>C
c.2130T>C (p.Ser710=)
c.2128+5706T>C (n.2128+5706T>C)
n.2338T>C
n.2546T>C
c.1755T>C (p.Ser585=)
c.780T>C (p.Ser260=)
c.1494T>C (p.Ser498=)
n.2290T>C
n.2498T>C
 dbSNP gnomAD v4
1g.197427662T>GCA422809188CRB1c.2337T>G (p.Ser779=)
c.1218T>G (p.Ser406=)
c.480T>G (p.Ser160=)
c.2001T>G (p.Ser667=)
n.238T>G
c.2130T>G (p.Ser710=)
c.2128+5706T>G (n.2128+5706T>G)
n.2338T>G
n.2546T>G
c.1755T>G (p.Ser585=)
c.780T>G (p.Ser260=)
c.1494T>G (p.Ser498=)
n.2290T>G
n.2498T>G
1g.197427662T=CA1218066147CRB1c.2337T= (p.Ser779=)
c.1218T= (p.Ser406=)
c.480T= (p.Ser160=)
c.2001T= (p.Ser667=)
n.238T=
c.2130T= (p.Ser710=)
c.2128+5706T= (n.2128+5706T=)
n.2338T=
n.2546T=
c.1755T= (p.Ser585=)
c.780T= (p.Ser260=)
c.1494T= (p.Ser498=)
n.2290T=
n.2498T=
1g.197427663C>ACA344036997CRB1c.2338C>A (p.Pro780Thr)
c.1219C>A (p.Pro407Thr)
c.481C>A (p.Pro161Thr)
c.2002C>A (p.Pro668Thr)
n.239C>A
c.2131C>A (p.Pro711Thr)
c.2128+5707C>A (n.2128+5707C>A)
n.2339C>A
n.2547C>A
c.1756C>A (p.Pro586Thr)
c.781C>A (p.Pro261Thr)
c.1495C>A (p.Pro499Thr)
n.2291C>A
n.2499C>A
1g.197427663C>GCA344036998CRB1c.2338C>G (p.Pro780Ala)
c.1219C>G (p.Pro407Ala)
c.481C>G (p.Pro161Ala)
c.2002C>G (p.Pro668Ala)
n.239C>G
c.2131C>G (p.Pro711Ala)
c.2128+5707C>G (n.2128+5707C>G)
n.2339C>G
n.2547C>G
c.1756C>G (p.Pro586Ala)
c.781C>G (p.Pro261Ala)
c.1495C>G (p.Pro499Ala)
n.2291C>G
n.2499C>G
 gnomAD v4
1g.197427663C>TCA344036999CRB1c.2338C>T (p.Pro780Ser)
c.1219C>T (p.Pro407Ser)
c.481C>T (p.Pro161Ser)
c.2002C>T (p.Pro668Ser)
n.239C>T
c.2131C>T (p.Pro711Ser)
c.2128+5707C>T (n.2128+5707C>T)
n.2339C>T
n.2547C>T
c.1756C>T (p.Pro586Ser)
c.781C>T (p.Pro261Ser)
c.1495C>T (p.Pro499Ser)
n.2291C>T
n.2499C>T
1g.197427664C>ACA344037000CRB1c.2339C>A (p.Pro780His)
c.1220C>A (p.Pro407His)
c.482C>A (p.Pro161His)
c.2003C>A (p.Pro668His)
n.240C>A
c.2132C>A (p.Pro711His)
c.2128+5708C>A (n.2128+5708C>A)
n.2340C>A
n.2548C>A
c.1757C>A (p.Pro586His)
c.782C>A (p.Pro261His)
c.1496C>A (p.Pro499His)
n.2292C>A
n.2500C>A
 dbSNP gnomAD v2 gnomAD v4
1g.197427664C=CA1218066149CRB1c.2339C= (p.Pro780=)
c.1220C= (p.Pro407=)
c.482C= (p.Pro161=)
c.2003C= (p.Pro668=)
n.240C=
c.2132C= (p.Pro711=)
c.2128+5708C= (n.2128+5708C=)
n.2340C=
n.2548C=
c.1757C= (p.Pro586=)
c.782C= (p.Pro261=)
c.1496C= (p.Pro499=)
n.2292C=
n.2500C=
1g.197427664C>GCA344037001CRB1c.2339C>G (p.Pro780Arg)
c.1220C>G (p.Pro407Arg)
c.482C>G (p.Pro161Arg)
c.2003C>G (p.Pro668Arg)
n.240C>G
c.2132C>G (p.Pro711Arg)
c.2128+5708C>G (n.2128+5708C>G)
n.2340C>G
n.2548C>G
c.1757C>G (p.Pro586Arg)
c.782C>G (p.Pro261Arg)
c.1496C>G (p.Pro499Arg)
n.2292C>G
n.2500C>G
 dbSNP gnomAD v4 COSMIC COSMIC
1g.197427664C>TCA344037002CRB1c.2339C>T (p.Pro780Leu)
c.1220C>T (p.Pro407Leu)
c.482C>T (p.Pro161Leu)
c.2003C>T (p.Pro668Leu)
n.240C>T
c.2132C>T (p.Pro711Leu)
c.2128+5708C>T (n.2128+5708C>T)
n.2340C>T
n.2548C>T
c.1757C>T (p.Pro586Leu)
c.782C>T (p.Pro261Leu)
c.1496C>T (p.Pro499Leu)
n.2292C>T
n.2500C>T
 ClinVar dbSNP gnomAD v4
1g.197427664_197427665insAGTCA2747247626CRB1c.2339_2340insAGT (p.Pro780_Lys781insVal)
c.1220_1221insAGT (p.Pro407_Lys408insVal)
c.482_483insAGT (p.Pro161_Lys162insVal)
c.2003_2004insAGT (p.Pro668_Lys669insVal)
n.240_241insAGT
c.2132_2133insAGT (p.Pro711_Lys712insVal)
c.2128+5708_2128+5709insAGT (n.2128+5708_2128+5709insAGT)
n.2340_2341insAGT
n.2548_2549insAGT
c.1757_1758insAGT (p.Pro586_Lys587insVal)
c.782_783insAGT (p.Pro261_Lys262insVal)
c.1496_1497insAGT (p.Pro499_Lys500insVal)
n.2292_2293insAGT
n.2500_2501insAGT
1g.197427665C>ACA422809195CRB1c.2340C>A (p.Pro780=)
c.1221C>A (p.Pro407=)
c.483C>A (p.Pro161=)
c.2004C>A (p.Pro668=)
n.241C>A
c.2133C>A (p.Pro711=)
c.2128+5709C>A (n.2128+5709C>A)
n.2341C>A
n.2549C>A
c.1758C>A (p.Pro586=)
c.783C>A (p.Pro261=)
c.1497C>A (p.Pro499=)
n.2293C>A
n.2501C>A
1g.197427665C>GCA422809198CRB1c.2340C>G (p.Pro780=)
c.1221C>G (p.Pro407=)
c.483C>G (p.Pro161=)
c.2004C>G (p.Pro668=)
n.241C>G
c.2133C>G (p.Pro711=)
c.2128+5709C>G (n.2128+5709C>G)
n.2341C>G
n.2549C>G
c.1758C>G (p.Pro586=)
c.783C>G (p.Pro261=)
c.1497C>G (p.Pro499=)
n.2293C>G
n.2501C>G
 gnomAD v4
1g.197427665C>TCA422809197CRB1c.2340C>T (p.Pro780=)
c.1221C>T (p.Pro407=)
c.483C>T (p.Pro161=)
c.2004C>T (p.Pro668=)
n.241C>T
c.2133C>T (p.Pro711=)
c.2128+5709C>T (n.2128+5709C>T)
n.2341C>T
n.2549C>T
c.1758C>T (p.Pro586=)
c.783C>T (p.Pro261=)
c.1497C>T (p.Pro499=)
n.2293C>T
n.2501C>T
 ClinVar dbSNP
1g.197427666A>CCA344037003CRB1c.2341A>C (p.Lys781Gln)
c.1222A>C (p.Lys408Gln)
c.484A>C (p.Lys162Gln)
c.2005A>C (p.Lys669Gln)
n.242A>C
c.2134A>C (p.Lys712Gln)
c.2128+5710A>C (n.2128+5710A>C)
n.2342A>C
n.2550A>C
c.1759A>C (p.Lys587Gln)
c.784A>C (p.Lys262Gln)
c.1498A>C (p.Lys500Gln)
n.2294A>C
n.2502A>C
1g.197427666A>GCA344037005CRB1c.2341A>G (p.Lys781Glu)
c.1222A>G (p.Lys408Glu)
c.484A>G (p.Lys162Glu)
c.2005A>G (p.Lys669Glu)
n.242A>G
c.2134A>G (p.Lys712Glu)
c.2128+5710A>G (n.2128+5710A>G)
n.2342A>G
n.2550A>G
c.1759A>G (p.Lys587Glu)
c.784A>G (p.Lys262Glu)
c.1498A>G (p.Lys500Glu)
n.2294A>G
n.2502A>G
1g.197427666A>TCA344037004CRB1c.2341A>T (p.Lys781Ter)
c.1222A>T (p.Lys408Ter)
c.484A>T (p.Lys162Ter)
c.2005A>T (p.Lys669Ter)
n.242A>T
c.2134A>T (p.Lys712Ter)
c.2128+5710A>T (n.2128+5710A>T)
n.2342A>T
n.2550A>T
c.1759A>T (p.Lys587Ter)
c.784A>T (p.Lys262Ter)
c.1498A>T (p.Lys500Ter)
n.2294A>T
n.2502A>T
1g.197427667A>CCA344037006CRB1c.2342A>C (p.Lys781Thr)
c.1223A>C (p.Lys408Thr)
c.485A>C (p.Lys162Thr)
c.2006A>C (p.Lys669Thr)
n.243A>C
c.2135A>C (p.Lys712Thr)
c.2128+5711A>C (n.2128+5711A>C)
n.2343A>C
n.2551A>C
c.1760A>C (p.Lys587Thr)
c.785A>C (p.Lys262Thr)
c.1499A>C (p.Lys500Thr)
n.2295A>C
n.2503A>C
1g.197427667A>GCA344037007CRB1c.2342A>G (p.Lys781Arg)
c.1223A>G (p.Lys408Arg)
c.485A>G (p.Lys162Arg)
c.2006A>G (p.Lys669Arg)
n.243A>G
c.2135A>G (p.Lys712Arg)
c.2128+5711A>G (n.2128+5711A>G)
n.2343A>G
n.2551A>G
c.1760A>G (p.Lys587Arg)
c.785A>G (p.Lys262Arg)
c.1499A>G (p.Lys500Arg)
n.2295A>G
n.2503A>G
1g.197427667A>TCA344037008CRB1c.2342A>T (p.Lys781Ile)
c.1223A>T (p.Lys408Ile)
c.485A>T (p.Lys162Ile)
c.2006A>T (p.Lys669Ile)
n.243A>T
c.2135A>T (p.Lys712Ile)
c.2128+5711A>T (n.2128+5711A>T)
n.2343A>T
n.2551A>T
c.1760A>T (p.Lys587Ile)
c.785A>T (p.Lys262Ile)
c.1499A>T (p.Lys500Ile)
n.2295A>T
n.2503A>T
1g.197427668A=CA1218066153CRB1c.2343A= (p.Lys781=)
c.1224A= (p.Lys408=)
c.486A= (p.Lys162=)
c.2007A= (p.Lys669=)
n.244A=
c.2136A= (p.Lys712=)
c.2128+5712A= (n.2128+5712A=)
n.2344A=
n.2552A=
c.1761A= (p.Lys587=)
c.786A= (p.Lys262=)
c.1500A= (p.Lys500=)
n.2296A=
n.2504A=
1g.197427668A>CCA344037009CRB1c.2343A>C (p.Lys781Asn)
c.1224A>C (p.Lys408Asn)
c.486A>C (p.Lys162Asn)
c.2007A>C (p.Lys669Asn)
n.244A>C
c.2136A>C (p.Lys712Asn)
c.2128+5712A>C (n.2128+5712A>C)
n.2344A>C
n.2552A>C
c.1761A>C (p.Lys587Asn)
c.786A>C (p.Lys262Asn)
c.1500A>C (p.Lys500Asn)
n.2296A>C
n.2504A>C
1g.197427668A>GCA422809209CRB1c.2343A>G (p.Lys781=)
c.1224A>G (p.Lys408=)
c.486A>G (p.Lys162=)
c.2007A>G (p.Lys669=)
n.244A>G
c.2136A>G (p.Lys712=)
c.2128+5712A>G (n.2128+5712A>G)
n.2344A>G
n.2552A>G
c.1761A>G (p.Lys587=)
c.786A>G (p.Lys262=)
c.1500A>G (p.Lys500=)
n.2296A>G
n.2504A>G
 ClinVar dbSNP gnomAD v4
1g.197427668A>TCA344037010CRB1c.2343A>T (p.Lys781Asn)
c.1224A>T (p.Lys408Asn)
c.486A>T (p.Lys162Asn)
c.2007A>T (p.Lys669Asn)
n.244A>T
c.2136A>T (p.Lys712Asn)
c.2128+5712A>T (n.2128+5712A>T)
n.2344A>T
n.2552A>T
c.1761A>T (p.Lys587Asn)
c.786A>T (p.Lys262Asn)
c.1500A>T (p.Lys500Asn)
n.2296A>T
n.2504A>T
1g.197427669T>ACA344037011CRB1c.2344T>A (p.Leu782Ile)
c.1225T>A (p.Leu409Ile)
c.487T>A (p.Leu163Ile)
c.2008T>A (p.Leu670Ile)
n.245T>A
c.2137T>A (p.Leu713Ile)
c.2128+5713T>A (n.2128+5713T>A)
n.2345T>A
n.2553T>A
c.1762T>A (p.Leu588Ile)
c.787T>A (p.Leu263Ile)
c.1501T>A (p.Leu501Ile)
n.2297T>A
n.2505T>A
1g.197427669T>CCA422809210CRB1c.2344T>C (p.Leu782=)
c.1225T>C (p.Leu409=)
c.487T>C (p.Leu163=)
c.2008T>C (p.Leu670=)
n.245T>C
c.2137T>C (p.Leu713=)
c.2128+5713T>C (n.2128+5713T>C)
n.2345T>C
n.2553T>C
c.1762T>C (p.Leu588=)
c.787T>C (p.Leu263=)
c.1501T>C (p.Leu501=)
n.2297T>C
n.2505T>C
1g.197427669T>GCA1312105CRB1c.2344T>G (p.Leu782Val)
c.1225T>G (p.Leu409Val)
c.487T>G (p.Leu163Val)
c.2008T>G (p.Leu670Val)
n.245T>G
c.2137T>G (p.Leu713Val)
c.2128+5713T>G (n.2128+5713T>G)
n.2345T>G
n.2553T>G
c.1762T>G (p.Leu588Val)
c.787T>G (p.Leu263Val)
c.1501T>G (p.Leu501Val)
n.2297T>G
n.2505T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427669T=CA1218066155CRB1c.2344T= (p.Leu782=)
c.1225T= (p.Leu409=)
c.487T= (p.Leu163=)
c.2008T= (p.Leu670=)
n.245T=
c.2137T= (p.Leu713=)
c.2128+5713T= (n.2128+5713T=)
n.2345T=
n.2553T=
c.1762T= (p.Leu588=)
c.787T= (p.Leu263=)
c.1501T= (p.Leu501=)
n.2297T=
n.2505T=
1g.197427670T>ACA344037012CRB1c.2345T>A (p.Leu782Ter)
c.1226T>A (p.Leu409Ter)
c.488T>A (p.Leu163Ter)
c.2009T>A (p.Leu670Ter)
n.246T>A
c.2138T>A (p.Leu713Ter)
c.2128+5714T>A (n.2128+5714T>A)
n.2346T>A
n.2554T>A
c.1763T>A (p.Leu588Ter)
c.788T>A (p.Leu263Ter)
c.1502T>A (p.Leu501Ter)
n.2298T>A
n.2506T>A
1g.197427670T>CCA344037013CRB1c.2345T>C (p.Leu782Ser)
c.1226T>C (p.Leu409Ser)
c.488T>C (p.Leu163Ser)
c.2009T>C (p.Leu670Ser)
n.246T>C
c.2138T>C (p.Leu713Ser)
c.2128+5714T>C (n.2128+5714T>C)
n.2346T>C
n.2554T>C
c.1763T>C (p.Leu588Ser)
c.788T>C (p.Leu263Ser)
c.1502T>C (p.Leu501Ser)
n.2298T>C
n.2506T>C
1g.197427670T>GCA344037014CRB1c.2345T>G (p.Leu782Ter)
c.1226T>G (p.Leu409Ter)
c.488T>G (p.Leu163Ter)
c.2009T>G (p.Leu670Ter)
n.246T>G
c.2138T>G (p.Leu713Ter)
c.2128+5714T>G (n.2128+5714T>G)
n.2346T>G
n.2554T>G
c.1763T>G (p.Leu588Ter)
c.788T>G (p.Leu263Ter)
c.1502T>G (p.Leu501Ter)
n.2298T>G
n.2506T>G
1g.197427671A>CCA344037015CRB1c.2346A>C (p.Leu782Phe)
c.1227A>C (p.Leu409Phe)
c.489A>C (p.Leu163Phe)
c.2010A>C (p.Leu670Phe)
n.247A>C
c.2139A>C (p.Leu713Phe)
c.2128+5715A>C (n.2128+5715A>C)
n.2347A>C
n.2555A>C
c.1764A>C (p.Leu588Phe)
c.789A>C (p.Leu263Phe)
c.1503A>C (p.Leu501Phe)
n.2299A>C
n.2507A>C
1g.197427671A>GCA422809216CRB1c.2346A>G (p.Leu782=)
c.1227A>G (p.Leu409=)
c.489A>G (p.Leu163=)
c.2010A>G (p.Leu670=)
n.247A>G
c.2139A>G (p.Leu713=)
c.2128+5715A>G (n.2128+5715A>G)
n.2347A>G
n.2555A>G
c.1764A>G (p.Leu588=)
c.789A>G (p.Leu263=)
c.1503A>G (p.Leu501=)
n.2299A>G
n.2507A>G
 ClinVar gnomAD v4
1g.197427671A>TCA344037016CRB1c.2346A>T (p.Leu782Phe)
c.1227A>T (p.Leu409Phe)
c.489A>T (p.Leu163Phe)
c.2010A>T (p.Leu670Phe)
n.247A>T
c.2139A>T (p.Leu713Phe)
c.2128+5715A>T (n.2128+5715A>T)
n.2347A>T
n.2555A>T
c.1764A>T (p.Leu588Phe)
c.789A>T (p.Leu263Phe)
c.1503A>T (p.Leu501Phe)
n.2299A>T
n.2507A>T
 gnomAD v4
1g.197427672G>ACA344037019CRB1c.2347G>A (p.Val783Ile)
c.1228G>A (p.Val410Ile)
c.490G>A (p.Val164Ile)
c.2011G>A (p.Val671Ile)
n.248G>A
c.2140G>A (p.Val714Ile)
c.2128+5716G>A (n.2128+5716G>A)
n.2348G>A
n.2556G>A
c.1765G>A (p.Val589Ile)
c.790G>A (p.Val264Ile)
c.1504G>A (p.Val502Ile)
n.2300G>A
n.2508G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427672G>CCA344037017CRB1c.2347G>C (p.Val783Leu)
c.1228G>C (p.Val410Leu)
c.490G>C (p.Val164Leu)
c.2011G>C (p.Val671Leu)
n.248G>C
c.2140G>C (p.Val714Leu)
c.2128+5716G>C (n.2128+5716G>C)
n.2348G>C
n.2556G>C
c.1765G>C (p.Val589Leu)
c.790G>C (p.Val264Leu)
c.1504G>C (p.Val502Leu)
n.2300G>C
n.2508G>C
1g.197427672G=CA1218066157CRB1c.2347G= (p.Val783=)
c.1228G= (p.Val410=)
c.490G= (p.Val164=)
c.2011G= (p.Val671=)
n.248G=
c.2140G= (p.Val714=)
c.2128+5716G= (n.2128+5716G=)
n.2348G=
n.2556G=
c.1765G= (p.Val589=)
c.790G= (p.Val264=)
c.1504G= (p.Val502=)
n.2300G=
n.2508G=
1g.197427672G>TCA344037018CRB1c.2347G>T (p.Val783Leu)
c.1228G>T (p.Val410Leu)
c.490G>T (p.Val164Leu)
c.2011G>T (p.Val671Leu)
n.248G>T
c.2140G>T (p.Val714Leu)
c.2128+5716G>T (n.2128+5716G>T)
n.2348G>T
n.2556G>T
c.1765G>T (p.Val589Leu)
c.790G>T (p.Val264Leu)
c.1504G>T (p.Val502Leu)
n.2300G>T
n.2508G>T
1g.197427673T>ACA344037020CRB1c.2348T>A (p.Val783Glu)
c.1229T>A (p.Val410Glu)
c.491T>A (p.Val164Glu)
c.2012T>A (p.Val671Glu)
n.249T>A
c.2141T>A (p.Val714Glu)
c.2128+5717T>A (n.2128+5717T>A)
n.2349T>A
n.2557T>A
c.1766T>A (p.Val589Glu)
c.791T>A (p.Val264Glu)
c.1505T>A (p.Val502Glu)
n.2301T>A
n.2509T>A
1g.197427673T>CCA344037021CRB1c.2348T>C (p.Val783Ala)
c.1229T>C (p.Val410Ala)
c.491T>C (p.Val164Ala)
c.2012T>C (p.Val671Ala)
n.249T>C
c.2141T>C (p.Val714Ala)
c.2128+5717T>C (n.2128+5717T>C)
n.2349T>C
n.2557T>C
c.1766T>C (p.Val589Ala)
c.791T>C (p.Val264Ala)
c.1505T>C (p.Val502Ala)
n.2301T>C
n.2509T>C
 gnomAD v4
1g.197427673T>GCA344037022CRB1c.2348T>G (p.Val783Gly)
c.1229T>G (p.Val410Gly)
c.491T>G (p.Val164Gly)
c.2012T>G (p.Val671Gly)
n.249T>G
c.2141T>G (p.Val714Gly)
c.2128+5717T>G (n.2128+5717T>G)
n.2349T>G
n.2557T>G
c.1766T>G (p.Val589Gly)
c.791T>G (p.Val264Gly)
c.1505T>G (p.Val502Gly)
n.2301T>G
n.2509T>G
1g.197427674A>CCA422809224CRB1c.2349A>C (p.Val783=)
c.1230A>C (p.Val410=)
c.492A>C (p.Val164=)
c.2013A>C (p.Val671=)
n.250A>C
c.2142A>C (p.Val714=)
c.2128+5718A>C (n.2128+5718A>C)
n.2350A>C
n.2558A>C
c.1767A>C (p.Val589=)
c.792A>C (p.Val264=)
c.1506A>C (p.Val502=)
n.2302A>C
n.2510A>C
1g.197427674A>GCA422809225CRB1c.2349A>G (p.Val783=)
c.1230A>G (p.Val410=)
c.492A>G (p.Val164=)
c.2013A>G (p.Val671=)
n.250A>G
c.2142A>G (p.Val714=)
c.2128+5718A>G (n.2128+5718A>G)
n.2350A>G
n.2558A>G
c.1767A>G (p.Val589=)
c.792A>G (p.Val264=)
c.1506A>G (p.Val502=)
n.2302A>G
n.2510A>G
1g.197427674A>TCA422809223CRB1c.2349A>T (p.Val783=)
c.1230A>T (p.Val410=)
c.492A>T (p.Val164=)
c.2013A>T (p.Val671=)
n.250A>T
c.2142A>T (p.Val714=)
c.2128+5718A>T (n.2128+5718A>T)
n.2350A>T
n.2558A>T
c.1767A>T (p.Val589=)
c.792A>T (p.Val264=)
c.1506A>T (p.Val502=)
n.2302A>T
n.2510A>T
1g.197427675G>ACA1312106CRB1c.2350G>A (p.Val784Ile)
c.1231G>A (p.Val411Ile)
c.493G>A (p.Val165Ile)
c.2014G>A (p.Val672Ile)
n.251G>A
c.2143G>A (p.Val715Ile)
c.2128+5719G>A (n.2128+5719G>A)
n.2351G>A
n.2559G>A
c.1768G>A (p.Val590Ile)
c.793G>A (p.Val265Ile)
c.1507G>A (p.Val503Ile)
n.2303G>A
n.2511G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427675G>CCA344037023CRB1c.2350G>C (p.Val784Leu)
c.1231G>C (p.Val411Leu)
c.493G>C (p.Val165Leu)
c.2014G>C (p.Val672Leu)
n.251G>C
c.2143G>C (p.Val715Leu)
c.2128+5719G>C (n.2128+5719G>C)
n.2351G>C
n.2559G>C
c.1768G>C (p.Val590Leu)
c.793G>C (p.Val265Leu)
c.1507G>C (p.Val503Leu)
n.2303G>C
n.2511G>C
1g.197427675G=CA1218066158CRB1c.2350G= (p.Val784=)
c.1231G= (p.Val411=)
c.493G= (p.Val165=)
c.2014G= (p.Val672=)
n.251G=
c.2143G= (p.Val715=)
c.2128+5719G= (n.2128+5719G=)
n.2351G=
n.2559G=
c.1768G= (p.Val590=)
c.793G= (p.Val265=)
c.1507G= (p.Val503=)
n.2303G=
n.2511G=
1g.197427675G>TCA344037024CRB1c.2350G>T (p.Val784Leu)
c.1231G>T (p.Val411Leu)
c.493G>T (p.Val165Leu)
c.2014G>T (p.Val672Leu)
n.251G>T
c.2143G>T (p.Val715Leu)
c.2128+5719G>T (n.2128+5719G>T)
n.2351G>T
n.2559G>T
c.1768G>T (p.Val590Leu)
c.793G>T (p.Val265Leu)
c.1507G>T (p.Val503Leu)
n.2303G>T
n.2511G>T
1g.197427676T>ACA344037025CRB1c.2351T>A (p.Val784Glu)
c.1232T>A (p.Val411Glu)
c.494T>A (p.Val165Glu)
c.2015T>A (p.Val672Glu)
n.252T>A
c.2144T>A (p.Val715Glu)
c.2128+5720T>A (n.2128+5720T>A)
n.2352T>A
n.2560T>A
c.1769T>A (p.Val590Glu)
c.794T>A (p.Val265Glu)
c.1508T>A (p.Val503Glu)
n.2304T>A
n.2512T>A
1g.197427676T>CCA344037026CRB1c.2351T>C (p.Val784Ala)
c.1232T>C (p.Val411Ala)
c.494T>C (p.Val165Ala)
c.2015T>C (p.Val672Ala)
n.252T>C
c.2144T>C (p.Val715Ala)
c.2128+5720T>C (n.2128+5720T>C)
n.2352T>C
n.2560T>C
c.1769T>C (p.Val590Ala)
c.794T>C (p.Val265Ala)
c.1508T>C (p.Val503Ala)
n.2304T>C
n.2512T>C
1g.197427676T>GCA344037027CRB1c.2351T>G (p.Val784Gly)
c.1232T>G (p.Val411Gly)
c.494T>G (p.Val165Gly)
c.2015T>G (p.Val672Gly)
n.252T>G
c.2144T>G (p.Val715Gly)
c.2128+5720T>G (n.2128+5720T>G)
n.2352T>G
n.2560T>G
c.1769T>G (p.Val590Gly)
c.794T>G (p.Val265Gly)
c.1508T>G (p.Val503Gly)
n.2304T>G
n.2512T>G
1g.197427677A=CA1141652929CRB1c.2352A= (p.Val784=)
c.1233A= (p.Val411=)
c.495A= (p.Val165=)
c.2016A= (p.Val672=)
n.253A=
c.2145A= (p.Val715=)
c.2128+5721A= (n.2128+5721A=)
n.2353A=
n.2561A=
c.1770A= (p.Val590=)
c.795A= (p.Val265=)
c.1509A= (p.Val503=)
n.2305A=
n.2513A=
1g.197427677A>CCA422809232CRB1c.2352A>C (p.Val784=)
c.1233A>C (p.Val411=)
c.495A>C (p.Val165=)
c.2016A>C (p.Val672=)
n.253A>C
c.2145A>C (p.Val715=)
c.2128+5721A>C (n.2128+5721A>C)
n.2353A>C
n.2561A>C
c.1770A>C (p.Val590=)
c.795A>C (p.Val265=)
c.1509A>C (p.Val503=)
n.2305A>C
n.2513A>C
1g.197427677A>GCA422809233CRB1c.2352A>G (p.Val784=)
c.1233A>G (p.Val411=)
c.495A>G (p.Val165=)
c.2016A>G (p.Val672=)
n.253A>G
c.2145A>G (p.Val715=)
c.2128+5721A>G (n.2128+5721A>G)
n.2353A>G
n.2561A>G
c.1770A>G (p.Val590=)
c.795A>G (p.Val265=)
c.1509A>G (p.Val503=)
n.2305A>G
n.2513A>G
1g.197427677A>TCA1312107CRB1c.2352A>T (p.Val784=)
c.1233A>T (p.Val411=)
c.495A>T (p.Val165=)
c.2016A>T (p.Val672=)
n.253A>T
c.2145A>T (p.Val715=)
c.2128+5721A>T (n.2128+5721A>T)
n.2353A>T
n.2561A>T
c.1770A>T (p.Val590=)
c.795A>T (p.Val265=)
c.1509A>T (p.Val503=)
n.2305A>T
n.2513A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427680delCA2574105528CRB1c.2355del (p.Lys785AsnfsTer11)
c.1236del (p.Lys412AsnfsTer11)
c.498del (p.Lys166AsnfsTer11)
c.2019del (p.Lys673AsnfsTer11)
n.256del
c.2148del (p.Lys716AsnfsTer11)
c.2128+5724del (n.2128+5724del)
n.2356del
n.2564del
c.1773del (p.Lys591AsnfsTer11)
c.798del (p.Lys266AsnfsTer11)
c.1512del (p.Lys504AsnfsTer11)
n.2308del
n.2516del
 ClinVar
1g.197427678A>CCA344037030CRB1c.2353A>C (p.Lys785Gln)
c.1234A>C (p.Lys412Gln)
c.496A>C (p.Lys166Gln)
c.2017A>C (p.Lys673Gln)
n.254A>C
c.2146A>C (p.Lys716Gln)
c.2128+5722A>C (n.2128+5722A>C)
n.2354A>C
n.2562A>C
c.1771A>C (p.Lys591Gln)
c.796A>C (p.Lys266Gln)
c.1510A>C (p.Lys504Gln)
n.2306A>C
n.2514A>C
1g.197427678A>GCA344037029CRB1c.2353A>G (p.Lys785Glu)
c.1234A>G (p.Lys412Glu)
c.496A>G (p.Lys166Glu)
c.2017A>G (p.Lys673Glu)
n.254A>G
c.2146A>G (p.Lys716Glu)
c.2128+5722A>G (n.2128+5722A>G)
n.2354A>G
n.2562A>G
c.1771A>G (p.Lys591Glu)
c.796A>G (p.Lys266Glu)
c.1510A>G (p.Lys504Glu)
n.2306A>G
n.2514A>G
1g.197427678A>TCA344037028CRB1c.2353A>T (p.Lys785Ter)
c.1234A>T (p.Lys412Ter)
c.496A>T (p.Lys166Ter)
c.2017A>T (p.Lys673Ter)
n.254A>T
c.2146A>T (p.Lys716Ter)
c.2128+5722A>T (n.2128+5722A>T)
n.2354A>T
n.2562A>T
c.1771A>T (p.Lys591Ter)
c.796A>T (p.Lys266Ter)
c.1510A>T (p.Lys504Ter)
n.2306A>T
n.2514A>T
1g.197427679A>CCA344037031CRB1c.2354A>C (p.Lys785Thr)
c.1235A>C (p.Lys412Thr)
c.497A>C (p.Lys166Thr)
c.2018A>C (p.Lys673Thr)
n.255A>C
c.2147A>C (p.Lys716Thr)
c.2128+5723A>C (n.2128+5723A>C)
n.2355A>C
n.2563A>C
c.1772A>C (p.Lys591Thr)
c.797A>C (p.Lys266Thr)
c.1511A>C (p.Lys504Thr)
n.2307A>C
n.2515A>C
1g.197427679A>GCA344037033CRB1c.2354A>G (p.Lys785Arg)
c.1235A>G (p.Lys412Arg)
c.497A>G (p.Lys166Arg)
c.2018A>G (p.Lys673Arg)
n.255A>G
c.2147A>G (p.Lys716Arg)
c.2128+5723A>G (n.2128+5723A>G)
n.2355A>G
n.2563A>G
c.1772A>G (p.Lys591Arg)
c.797A>G (p.Lys266Arg)
c.1511A>G (p.Lys504Arg)
n.2307A>G
n.2515A>G
1g.197427679A>TCA344037032CRB1c.2354A>T (p.Lys785Ile)
c.1235A>T (p.Lys412Ile)
c.497A>T (p.Lys166Ile)
c.2018A>T (p.Lys673Ile)
n.255A>T
c.2147A>T (p.Lys716Ile)
c.2128+5723A>T (n.2128+5723A>T)
n.2355A>T
n.2563A>T
c.1772A>T (p.Lys591Ile)
c.797A>T (p.Lys266Ile)
c.1511A>T (p.Lys504Ile)
n.2307A>T
n.2515A>T
1g.197427680A=CA1218066161CRB1c.2355A= (p.Lys785=)
c.1236A= (p.Lys412=)
c.498A= (p.Lys166=)
c.2019A= (p.Lys673=)
n.256A=
c.2148A= (p.Lys716=)
c.2128+5724A= (n.2128+5724A=)
n.2356A=
n.2564A=
c.1773A= (p.Lys591=)
c.798A= (p.Lys266=)
c.1512A= (p.Lys504=)
n.2308A=
n.2516A=
1g.197427680A>CCA344037034CRB1c.2355A>C (p.Lys785Asn)
c.1236A>C (p.Lys412Asn)
c.498A>C (p.Lys166Asn)
c.2019A>C (p.Lys673Asn)
n.256A>C
c.2148A>C (p.Lys716Asn)
c.2128+5724A>C (n.2128+5724A>C)
n.2356A>C
n.2564A>C
c.1773A>C (p.Lys591Asn)
c.798A>C (p.Lys266Asn)
c.1512A>C (p.Lys504Asn)
n.2308A>C
n.2516A>C
 dbSNP
1g.197427680A>GCA422809241CRB1c.2355A>G (p.Lys785=)
c.1236A>G (p.Lys412=)
c.498A>G (p.Lys166=)
c.2019A>G (p.Lys673=)
n.256A>G
c.2148A>G (p.Lys716=)
c.2128+5724A>G (n.2128+5724A>G)
n.2356A>G
n.2564A>G
c.1773A>G (p.Lys591=)
c.798A>G (p.Lys266=)
c.1512A>G (p.Lys504=)
n.2308A>G
n.2516A>G
1g.197427680A>TCA344037035CRB1c.2355A>T (p.Lys785Asn)
c.1236A>T (p.Lys412Asn)
c.498A>T (p.Lys166Asn)
c.2019A>T (p.Lys673Asn)
n.256A>T
c.2148A>T (p.Lys716Asn)
c.2128+5724A>T (n.2128+5724A>T)
n.2356A>T
n.2564A>T
c.1773A>T (p.Lys591Asn)
c.798A>T (p.Lys266Asn)
c.1512A>T (p.Lys504Asn)
n.2308A>T
n.2516A>T
1g.197427681T>ACA344037036CRB1c.2356T>A (p.Phe786Ile)
c.1237T>A (p.Phe413Ile)
c.499T>A (p.Phe167Ile)
c.2020T>A (p.Phe674Ile)
n.257T>A
c.2149T>A (p.Phe717Ile)
c.2128+5725T>A (n.2128+5725T>A)
n.2357T>A
n.2565T>A
c.1774T>A (p.Phe592Ile)
c.799T>A (p.Phe267Ile)
c.1513T>A (p.Phe505Ile)
n.2309T>A
n.2517T>A
1g.197427681T>CCA344037037CRB1c.2356T>C (p.Phe786Leu)
c.1237T>C (p.Phe413Leu)
c.499T>C (p.Phe167Leu)
c.2020T>C (p.Phe674Leu)
n.257T>C
c.2149T>C (p.Phe717Leu)
c.2128+5725T>C (n.2128+5725T>C)
n.2357T>C
n.2565T>C
c.1774T>C (p.Phe592Leu)
c.799T>C (p.Phe267Leu)
c.1513T>C (p.Phe505Leu)
n.2309T>C
n.2517T>C
1g.197427681T>GCA344037038CRB1c.2356T>G (p.Phe786Val)
c.1237T>G (p.Phe413Val)
c.499T>G (p.Phe167Val)
c.2020T>G (p.Phe674Val)
n.257T>G
c.2149T>G (p.Phe717Val)
c.2128+5725T>G (n.2128+5725T>G)
n.2357T>G
n.2565T>G
c.1774T>G (p.Phe592Val)
c.799T>G (p.Phe267Val)
c.1513T>G (p.Phe505Val)
n.2309T>G
n.2517T>G
1g.197427683delCA2545867274CRB1c.2358del (p.Phe786LeufsTer10)
c.1239del (p.Phe413LeufsTer10)
c.501del (p.Phe167LeufsTer10)
c.2022del (p.Phe674LeufsTer10)
n.259del
c.2151del (p.Phe717LeufsTer10)
c.2128+5727del (n.2128+5727del)
n.2359del
n.2567del
c.1776del (p.Phe592LeufsTer10)
c.801del (p.Phe267LeufsTer10)
c.1515del (p.Phe505LeufsTer10)
n.2311del
n.2519del
1g.197427682T>ACA344037039CRB1c.2357T>A (p.Phe786Tyr)
c.1238T>A (p.Phe413Tyr)
c.500T>A (p.Phe167Tyr)
c.2021T>A (p.Phe674Tyr)
n.258T>A
c.2150T>A (p.Phe717Tyr)
c.2128+5726T>A (n.2128+5726T>A)
n.2358T>A
n.2566T>A
c.1775T>A (p.Phe592Tyr)
c.800T>A (p.Phe267Tyr)
c.1514T>A (p.Phe505Tyr)
n.2310T>A
n.2518T>A
 gnomAD v4 COSMIC
1g.197427682T>CCA344037040CRB1c.2357T>C (p.Phe786Ser)
c.1238T>C (p.Phe413Ser)
c.500T>C (p.Phe167Ser)
c.2021T>C (p.Phe674Ser)
n.258T>C
c.2150T>C (p.Phe717Ser)
c.2128+5726T>C (n.2128+5726T>C)
n.2358T>C
n.2566T>C
c.1775T>C (p.Phe592Ser)
c.800T>C (p.Phe267Ser)
c.1514T>C (p.Phe505Ser)
n.2310T>C
n.2518T>C
1g.197427682T>GCA344037041CRB1c.2357T>G (p.Phe786Cys)
c.1238T>G (p.Phe413Cys)
c.500T>G (p.Phe167Cys)
c.2021T>G (p.Phe674Cys)
n.258T>G
c.2150T>G (p.Phe717Cys)
c.2128+5726T>G (n.2128+5726T>G)
n.2358T>G
n.2566T>G
c.1775T>G (p.Phe592Cys)
c.800T>G (p.Phe267Cys)
c.1514T>G (p.Phe505Cys)
n.2310T>G
n.2518T>G
1g.197427683T>ACA344037042CRB1c.2358T>A (p.Phe786Leu)
c.1239T>A (p.Phe413Leu)
c.501T>A (p.Phe167Leu)
c.2022T>A (p.Phe674Leu)
n.259T>A
c.2151T>A (p.Phe717Leu)
c.2128+5727T>A (n.2128+5727T>A)
n.2359T>A
n.2567T>A
c.1776T>A (p.Phe592Leu)
c.801T>A (p.Phe267Leu)
c.1515T>A (p.Phe505Leu)
n.2311T>A
n.2519T>A
1g.197427683T>CCA422809246CRB1c.2358T>C (p.Phe786=)
c.1239T>C (p.Phe413=)
c.501T>C (p.Phe167=)
c.2022T>C (p.Phe674=)
n.259T>C
c.2151T>C (p.Phe717=)
c.2128+5727T>C (n.2128+5727T>C)
n.2359T>C
n.2567T>C
c.1776T>C (p.Phe592=)
c.801T>C (p.Phe267=)
c.1515T>C (p.Phe505=)
n.2311T>C
n.2519T>C
 ClinVar dbSNP gnomAD v4
1g.197427683T>GCA344037043CRB1c.2358T>G (p.Phe786Leu)
c.1239T>G (p.Phe413Leu)
c.501T>G (p.Phe167Leu)
c.2022T>G (p.Phe674Leu)
n.259T>G
c.2151T>G (p.Phe717Leu)
c.2128+5727T>G (n.2128+5727T>G)
n.2359T>G
n.2567T>G
c.1776T>G (p.Phe592Leu)
c.801T>G (p.Phe267Leu)
c.1515T>G (p.Phe505Leu)
n.2311T>G
n.2519T>G
 dbSNP
1g.197427683T=CA1218066164CRB1c.2358T= (p.Phe786=)
c.1239T= (p.Phe413=)
c.501T= (p.Phe167=)
c.2022T= (p.Phe674=)
n.259T=
c.2151T= (p.Phe717=)
c.2128+5727T= (n.2128+5727T=)
n.2359T=
n.2567T=
c.1776T= (p.Phe592=)
c.801T= (p.Phe267=)
c.1515T= (p.Phe505=)
n.2311T=
n.2519T=
1g.197427684G>ACA344037044CRB1c.2359G>A (p.Val787Ile)
c.1240G>A (p.Val414Ile)
c.502G>A (p.Val168Ile)
c.2023G>A (p.Val675Ile)
n.260G>A
c.2152G>A (p.Val718Ile)
c.2128+5728G>A (n.2128+5728G>A)
n.2360G>A
n.2568G>A
c.1777G>A (p.Val593Ile)
c.802G>A (p.Val268Ile)
c.1516G>A (p.Val506Ile)
n.2312G>A
n.2520G>A
 dbSNP gnomAD v2 gnomAD v4
1g.197427684G>CCA1312108CRB1c.2359G>C (p.Val787Leu)
c.1240G>C (p.Val414Leu)
c.502G>C (p.Val168Leu)
c.2023G>C (p.Val675Leu)
n.260G>C
c.2152G>C (p.Val718Leu)
c.2128+5728G>C (n.2128+5728G>C)
n.2360G>C
n.2568G>C
c.1777G>C (p.Val593Leu)
c.802G>C (p.Val268Leu)
c.1516G>C (p.Val506Leu)
n.2312G>C
n.2520G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427684G=CA1141753916CRB1c.2359G= (p.Val787=)
c.1240G= (p.Val414=)
c.502G= (p.Val168=)
c.2023G= (p.Val675=)
n.260G=
c.2152G= (p.Val718=)
c.2128+5728G= (n.2128+5728G=)
n.2360G=
n.2568G=
c.1777G= (p.Val593=)
c.802G= (p.Val268=)
c.1516G= (p.Val506=)
n.2312G=
n.2520G=
1g.197427684G>TCA1312109CRB1c.2359G>T (p.Val787Phe)
c.1240G>T (p.Val414Phe)
c.502G>T (p.Val168Phe)
c.2023G>T (p.Val675Phe)
n.260G>T
c.2152G>T (p.Val718Phe)
c.2128+5728G>T (n.2128+5728G>T)
n.2360G>T
n.2568G>T
c.1777G>T (p.Val593Phe)
c.802G>T (p.Val268Phe)
c.1516G>T (p.Val506Phe)
n.2312G>T
n.2520G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427685T>ACA344037045CRB1c.2360T>A (p.Val787Asp)
c.1241T>A (p.Val414Asp)
c.503T>A (p.Val168Asp)
c.2024T>A (p.Val675Asp)
n.261T>A
c.2153T>A (p.Val718Asp)
c.2128+5729T>A (n.2128+5729T>A)
n.2361T>A
n.2569T>A
c.1778T>A (p.Val593Asp)
c.803T>A (p.Val268Asp)
c.1517T>A (p.Val506Asp)
n.2313T>A
n.2521T>A
1g.197427685T>CCA344037047CRB1c.2360T>C (p.Val787Ala)
c.1241T>C (p.Val414Ala)
c.503T>C (p.Val168Ala)
c.2024T>C (p.Val675Ala)
n.261T>C
c.2153T>C (p.Val718Ala)
c.2128+5729T>C (n.2128+5729T>C)
n.2361T>C
n.2569T>C
c.1778T>C (p.Val593Ala)
c.803T>C (p.Val268Ala)
c.1517T>C (p.Val506Ala)
n.2313T>C
n.2521T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427685T>GCA344037046CRB1c.2360T>G (p.Val787Gly)
c.1241T>G (p.Val414Gly)
c.503T>G (p.Val168Gly)
c.2024T>G (p.Val675Gly)
n.261T>G
c.2153T>G (p.Val718Gly)
c.2128+5729T>G (n.2128+5729T>G)
n.2361T>G
n.2569T>G
c.1778T>G (p.Val593Gly)
c.803T>G (p.Val268Gly)
c.1517T>G (p.Val506Gly)
n.2313T>G
n.2521T>G
1g.197427685T=CA1218066167CRB1c.2360T= (p.Val787=)
c.1241T= (p.Val414=)
c.503T= (p.Val168=)
c.2024T= (p.Val675=)
n.261T=
c.2153T= (p.Val718=)
c.2128+5729T= (n.2128+5729T=)
n.2361T=
n.2569T=
c.1778T= (p.Val593=)
c.803T= (p.Val268=)
c.1517T= (p.Val506=)
n.2313T=
n.2521T=
1g.197427686T>ACA422809250CRB1c.2361T>A (p.Val787=)
c.1242T>A (p.Val414=)
c.504T>A (p.Val168=)
c.2025T>A (p.Val675=)
n.262T>A
c.2154T>A (p.Val718=)
c.2128+5730T>A (n.2128+5730T>A)
n.2362T>A
n.2570T>A
c.1779T>A (p.Val593=)
c.804T>A (p.Val268=)
c.1518T>A (p.Val506=)
n.2314T>A
n.2522T>A
1g.197427686T>CCA422809254CRB1c.2361T>C (p.Val787=)
c.1242T>C (p.Val414=)
c.504T>C (p.Val168=)
c.2025T>C (p.Val675=)
n.262T>C
c.2154T>C (p.Val718=)
c.2128+5730T>C (n.2128+5730T>C)
n.2362T>C
n.2570T>C
c.1779T>C (p.Val593=)
c.804T>C (p.Val268=)
c.1518T>C (p.Val506=)
n.2314T>C
n.2522T>C
1g.197427686T>GCA422809252CRB1c.2361T>G (p.Val787=)
c.1242T>G (p.Val414=)
c.504T>G (p.Val168=)
c.2025T>G (p.Val675=)
n.262T>G
c.2154T>G (p.Val718=)
c.2128+5730T>G (n.2128+5730T>G)
n.2362T>G
n.2570T>G
c.1779T>G (p.Val593=)
c.804T>G (p.Val268=)
c.1518T>G (p.Val506=)
n.2314T>G
n.2522T>G
 gnomAD v4
1g.197427687C>ACA344037048CRB1c.2362C>A (p.Leu788Ile)
c.1243C>A (p.Leu415Ile)
c.505C>A (p.Leu169Ile)
c.2026C>A (p.Leu676Ile)
n.263C>A
c.2155C>A (p.Leu719Ile)
c.2128+5731C>A (n.2128+5731C>A)
n.2363C>A
n.2571C>A
c.1780C>A (p.Leu594Ile)
c.805C>A (p.Leu269Ile)
c.1519C>A (p.Leu507Ile)
n.2315C>A
n.2523C>A
1g.197427687C>GCA344037049CRB1c.2362C>G (p.Leu788Val)
c.1243C>G (p.Leu415Val)
c.505C>G (p.Leu169Val)
c.2026C>G (p.Leu676Val)
n.263C>G
c.2155C>G (p.Leu719Val)
c.2128+5731C>G (n.2128+5731C>G)
n.2363C>G
n.2571C>G
c.1780C>G (p.Leu594Val)
c.805C>G (p.Leu269Val)
c.1519C>G (p.Leu507Val)
n.2315C>G
n.2523C>G
 gnomAD v4
1g.197427687C>TCA344037050CRB1c.2362C>T (p.Leu788Phe)
c.1243C>T (p.Leu415Phe)
c.505C>T (p.Leu169Phe)
c.2026C>T (p.Leu676Phe)
n.263C>T
c.2155C>T (p.Leu719Phe)
c.2128+5731C>T (n.2128+5731C>T)
n.2363C>T
n.2571C>T
c.1780C>T (p.Leu594Phe)
c.805C>T (p.Leu269Phe)
c.1519C>T (p.Leu507Phe)
n.2315C>T
n.2523C>T
1g.197427688T>ACA344037051CRB1c.2363T>A (p.Leu788His)
c.1244T>A (p.Leu415His)
c.506T>A (p.Leu169His)
c.2027T>A (p.Leu676His)
n.264T>A
c.2156T>A (p.Leu719His)
c.2128+5732T>A (n.2128+5732T>A)
n.2364T>A
n.2572T>A
c.1781T>A (p.Leu594His)
c.806T>A (p.Leu269His)
c.1520T>A (p.Leu507His)
n.2316T>A
n.2524T>A
1g.197427688T>CCA344037052CRB1c.2363T>C (p.Leu788Pro)
c.1244T>C (p.Leu415Pro)
c.506T>C (p.Leu169Pro)
c.2027T>C (p.Leu676Pro)
n.264T>C
c.2156T>C (p.Leu719Pro)
c.2128+5732T>C (n.2128+5732T>C)
n.2364T>C
n.2572T>C
c.1781T>C (p.Leu594Pro)
c.806T>C (p.Leu269Pro)
c.1520T>C (p.Leu507Pro)
n.2316T>C
n.2524T>C
 ClinVar dbSNP gnomAD v4
1g.197427688T>GCA344037053CRB1c.2363T>G (p.Leu788Arg)
c.1244T>G (p.Leu415Arg)
c.506T>G (p.Leu169Arg)
c.2027T>G (p.Leu676Arg)
n.264T>G
c.2156T>G (p.Leu719Arg)
c.2128+5732T>G (n.2128+5732T>G)
n.2364T>G
n.2572T>G
c.1781T>G (p.Leu594Arg)
c.806T>G (p.Leu269Arg)
c.1520T>G (p.Leu507Arg)
n.2316T>G
n.2524T>G
 ClinVar dbSNP gnomAD v4
1g.197427688T=CA1218066169CRB1c.2363T= (p.Leu788=)
c.1244T= (p.Leu415=)
c.506T= (p.Leu169=)
c.2027T= (p.Leu676=)
n.264T=
c.2156T= (p.Leu719=)
c.2128+5732T= (n.2128+5732T=)
n.2364T=
n.2572T=
c.1781T= (p.Leu594=)
c.806T= (p.Leu269=)
c.1520T= (p.Leu507=)
n.2316T=
n.2524T=
1g.197427688_197427691delinsTTAACA1218066171CRB1c.2363_2366delinsTTAA (p.Leu788=)
c.1244_1247delinsTTAA (p.Leu415=)
c.506_509delinsTTAA (p.Leu169=)
c.2027_2030delinsTTAA (p.Leu676=)
n.264_267delinsTTAA
c.2156_2159delinsTTAA (p.Leu719=)
c.2128+5732_2128+5735delinsTTAA (n.2128+5732_2128+5735delinsTTAA)
n.2364_2367delinsTTAA
n.2572_2575delinsTTAA
c.1781_1784delinsTTAA (p.Leu594=)
c.806_809delinsTTAA (p.Leu269=)
c.1520_1523delinsTTAA (p.Leu507=)
n.2316_2319delinsTTAA
n.2524_2527delinsTTAA
1g.197427689T>ACA422809257CRB1c.2364T>A (p.Leu788=)
c.1245T>A (p.Leu415=)
c.507T>A (p.Leu169=)
c.2028T>A (p.Leu676=)
n.265T>A
c.2157T>A (p.Leu719=)
c.2128+5733T>A (n.2128+5733T>A)
n.2365T>A
n.2573T>A
c.1782T>A (p.Leu594=)
c.807T>A (p.Leu269=)
c.1521T>A (p.Leu507=)
n.2317T>A
n.2525T>A
1g.197427689T>CCA422809259CRB1c.2364T>C (p.Leu788=)
c.1245T>C (p.Leu415=)
c.507T>C (p.Leu169=)
c.2028T>C (p.Leu676=)
n.265T>C
c.2157T>C (p.Leu719=)
c.2128+5733T>C (n.2128+5733T>C)
n.2365T>C
n.2573T>C
c.1782T>C (p.Leu594=)
c.807T>C (p.Leu269=)
c.1521T>C (p.Leu507=)
n.2317T>C
n.2525T>C
1g.197427689T>GCA422809260CRB1c.2364T>G (p.Leu788=)
c.1245T>G (p.Leu415=)
c.507T>G (p.Leu169=)
c.2028T>G (p.Leu676=)
n.265T>G
c.2157T>G (p.Leu719=)
c.2128+5733T>G (n.2128+5733T>G)
n.2365T>G
n.2573T>G
c.1782T>G (p.Leu594=)
c.807T>G (p.Leu269=)
c.1521T>G (p.Leu507=)
n.2317T>G
n.2525T>G
1g.197427690_197427692delCA729757192CRB1c.2365_2367del (p.Asn789del)
c.1246_1248del (p.Asn416del)
c.508_510del (p.Asn170del)
c.2029_2031del (p.Asn677del)
n.266_268del
c.2158_2160del (p.Asn720del)
c.2128+5734_2128+5736del (n.2128+5734_2128+5736del)
n.2366_2368del
n.2574_2576del
c.1783_1785del (p.Asn595del)
c.808_810del (p.Asn270del)
c.1522_1524del (p.Asn508del)
n.2318_2320del
n.2526_2528del
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427690A=CA1218066177CRB1c.2365A= (p.Asn789=)
c.1246A= (p.Asn416=)
c.508A= (p.Asn170=)
c.2029A= (p.Asn677=)
n.266A=
c.2158A= (p.Asn720=)
c.2128+5734A= (n.2128+5734A=)
n.2366A=
n.2574A=
c.1783A= (p.Asn595=)
c.808A= (p.Asn270=)
c.1522A= (p.Asn508=)
n.2318A=
n.2526A=
1g.197427690A>CCA1312110CRB1c.2365A>C (p.Asn789His)
c.1246A>C (p.Asn416His)
c.508A>C (p.Asn170His)
c.2029A>C (p.Asn677His)
n.266A>C
c.2158A>C (p.Asn720His)
c.2128+5734A>C (n.2128+5734A>C)
n.2366A>C
n.2574A>C
c.1783A>C (p.Asn595His)
c.808A>C (p.Asn270His)
c.1522A>C (p.Asn508His)
n.2318A>C
n.2526A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427690A>GCA344037054CRB1c.2365A>G (p.Asn789Asp)
c.1246A>G (p.Asn416Asp)
c.508A>G (p.Asn170Asp)
c.2029A>G (p.Asn677Asp)
n.266A>G
c.2158A>G (p.Asn720Asp)
c.2128+5734A>G (n.2128+5734A>G)
n.2366A>G
n.2574A>G
c.1783A>G (p.Asn595Asp)
c.808A>G (p.Asn270Asp)
c.1522A>G (p.Asn508Asp)
n.2318A>G
n.2526A>G
1g.197427690A>TCA344037055CRB1c.2365A>T (p.Asn789Tyr)
c.1246A>T (p.Asn416Tyr)
c.508A>T (p.Asn170Tyr)
c.2029A>T (p.Asn677Tyr)
n.266A>T
c.2158A>T (p.Asn720Tyr)
c.2128+5734A>T (n.2128+5734A>T)
n.2366A>T
n.2574A>T
c.1783A>T (p.Asn595Tyr)
c.808A>T (p.Asn270Tyr)
c.1522A>T (p.Asn508Tyr)
n.2318A>T
n.2526A>T
1g.197427691A>CCA344037058CRB1c.2366A>C (p.Asn789Thr)
c.1247A>C (p.Asn416Thr)
c.509A>C (p.Asn170Thr)
c.2030A>C (p.Asn677Thr)
n.267A>C
c.2159A>C (p.Asn720Thr)
c.2128+5735A>C (n.2128+5735A>C)
n.2367A>C
n.2575A>C
c.1784A>C (p.Asn595Thr)
c.809A>C (p.Asn270Thr)
c.1523A>C (p.Asn508Thr)
n.2319A>C
n.2527A>C
1g.197427691A>GCA344037057CRB1c.2366A>G (p.Asn789Ser)
c.1247A>G (p.Asn416Ser)
c.509A>G (p.Asn170Ser)
c.2030A>G (p.Asn677Ser)
n.267A>G
c.2159A>G (p.Asn720Ser)
c.2128+5735A>G (n.2128+5735A>G)
n.2367A>G
n.2575A>G
c.1784A>G (p.Asn595Ser)
c.809A>G (p.Asn270Ser)
c.1523A>G (p.Asn508Ser)
n.2319A>G
n.2527A>G
1g.197427691A>TCA344037056CRB1c.2366A>T (p.Asn789Ile)
c.1247A>T (p.Asn416Ile)
c.509A>T (p.Asn170Ile)
c.2030A>T (p.Asn677Ile)
n.267A>T
c.2159A>T (p.Asn720Ile)
c.2128+5735A>T (n.2128+5735A>T)
n.2367A>T
n.2575A>T
c.1784A>T (p.Asn595Ile)
c.809A>T (p.Asn270Ile)
c.1523A>T (p.Asn508Ile)
n.2319A>T
n.2527A>T
 COSMIC
1g.197427692T>ACA344037059CRB1c.2367T>A (p.Asn789Lys)
c.1248T>A (p.Asn416Lys)
c.510T>A (p.Asn170Lys)
c.2031T>A (p.Asn677Lys)
n.268T>A
c.2160T>A (p.Asn720Lys)
c.2128+5736T>A (n.2128+5736T>A)
n.2368T>A
n.2576T>A
c.1785T>A (p.Asn595Lys)
c.810T>A (p.Asn270Lys)
c.1524T>A (p.Asn508Lys)
n.2320T>A
n.2528T>A
1g.197427692T>CCA35900771CRB1c.2367T>C (p.Asn789=)
c.1248T>C (p.Asn416=)
c.510T>C (p.Asn170=)
c.2031T>C (p.Asn677=)
n.268T>C
c.2160T>C (p.Asn720=)
c.2128+5736T>C (n.2128+5736T>C)
n.2368T>C
n.2576T>C
c.1785T>C (p.Asn595=)
c.810T>C (p.Asn270=)
c.1524T>C (p.Asn508=)
n.2320T>C
n.2528T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427692T>GCA344037060CRB1c.2367T>G (p.Asn789Lys)
c.1248T>G (p.Asn416Lys)
c.510T>G (p.Asn170Lys)
c.2031T>G (p.Asn677Lys)
n.268T>G
c.2160T>G (p.Asn720Lys)
c.2128+5736T>G (n.2128+5736T>G)
n.2368T>G
n.2576T>G
c.1785T>G (p.Asn595Lys)
c.810T>G (p.Asn270Lys)
c.1524T>G (p.Asn508Lys)
n.2320T>G
n.2528T>G
1g.197427692T=CA1218066179CRB1c.2367T= (p.Asn789=)
c.1248T= (p.Asn416=)
c.510T= (p.Asn170=)
c.2031T= (p.Asn677=)
n.268T=
c.2160T= (p.Asn720=)
c.2128+5736T= (n.2128+5736T=)
n.2368T=
n.2576T=
c.1785T= (p.Asn595=)
c.810T= (p.Asn270=)
c.1524T= (p.Asn508=)
n.2320T=
n.2528T=
1g.197427692_197427693insACACCA2747247634CRB1c.2367_2368insACAC (p.Asp790ThrfsTer16)
c.1248_1249insACAC (p.Asp417ThrfsTer16)
c.510_511insACAC (p.Asp171ThrfsTer16)
c.2031_2032insACAC (p.Asp678ThrfsTer16)
n.268_269insACAC
c.2160_2161insACAC (p.Asp721ThrfsTer16)
c.2128+5736_2128+5737insACAC (n.2128+5736_2128+5737insACAC)
n.2368_2369insACAC
n.2576_2577insACAC
c.1785_1786insACAC (p.Asp596ThrfsTer16)
c.810_811insACAC (p.Asp271ThrfsTer16)
c.1524_1525insACAC (p.Asp509ThrfsTer16)
n.2320_2321insACAC
n.2528_2529insACAC
1g.197427693G>ACA344037061CRB1c.2368G>A (p.Asp790Asn)
c.1249G>A (p.Asp417Asn)
c.511G>A (p.Asp171Asn)
c.2032G>A (p.Asp678Asn)
n.269G>A
c.2161G>A (p.Asp721Asn)
c.2128+5737G>A (n.2128+5737G>A)
n.2369G>A
n.2577G>A
c.1786G>A (p.Asp596Asn)
c.811G>A (p.Asp271Asn)
c.1525G>A (p.Asp509Asn)
n.2321G>A
n.2529G>A
 dbSNP gnomAD v2
1g.197427693G>CCA344037062CRB1c.2368G>C (p.Asp790His)
c.1249G>C (p.Asp417His)
c.511G>C (p.Asp171His)
c.2032G>C (p.Asp678His)
n.269G>C
c.2161G>C (p.Asp721His)
c.2128+5737G>C (n.2128+5737G>C)
n.2369G>C
n.2577G>C
c.1786G>C (p.Asp596His)
c.811G>C (p.Asp271His)
c.1525G>C (p.Asp509His)
n.2321G>C
n.2529G>C
1g.197427693G=CA1218066180CRB1c.2368G= (p.Asp790=)
c.1249G= (p.Asp417=)
c.511G= (p.Asp171=)
c.2032G= (p.Asp678=)
n.269G=
c.2161G= (p.Asp721=)
c.2128+5737G= (n.2128+5737G=)
n.2369G=
n.2577G=
c.1786G= (p.Asp596=)
c.811G= (p.Asp271=)
c.1525G= (p.Asp509=)
n.2321G=
n.2529G=
1g.197427693G>TCA344037063CRB1c.2368G>T (p.Asp790Tyr)
c.1249G>T (p.Asp417Tyr)
c.511G>T (p.Asp171Tyr)
c.2032G>T (p.Asp678Tyr)
n.269G>T
c.2161G>T (p.Asp721Tyr)
c.2128+5737G>T (n.2128+5737G>T)
n.2369G>T
n.2577G>T
c.1786G>T (p.Asp596Tyr)
c.811G>T (p.Asp271Tyr)
c.1525G>T (p.Asp509Tyr)
n.2321G>T
n.2529G>T
1g.197427694A=CA1218066182CRB1c.2369A= (p.Asp790=)
c.1250A= (p.Asp417=)
c.512A= (p.Asp171=)
c.2033A= (p.Asp678=)
n.270A=
c.2162A= (p.Asp721=)
c.2128+5738A= (n.2128+5738A=)
n.2370A=
n.2578A=
c.1787A= (p.Asp596=)
c.812A= (p.Asp271=)
c.1526A= (p.Asp509=)
n.2322A=
n.2530A=
1g.197427694A>CCA344037064CRB1c.2369A>C (p.Asp790Ala)
c.1250A>C (p.Asp417Ala)
c.512A>C (p.Asp171Ala)
c.2033A>C (p.Asp678Ala)
n.270A>C
c.2162A>C (p.Asp721Ala)
c.2128+5738A>C (n.2128+5738A>C)
n.2370A>C
n.2578A>C
c.1787A>C (p.Asp596Ala)
c.812A>C (p.Asp271Ala)
c.1526A>C (p.Asp509Ala)
n.2322A>C
n.2530A>C
1g.197427694A>GCA344037065CRB1c.2369A>G (p.Asp790Gly)
c.1250A>G (p.Asp417Gly)
c.512A>G (p.Asp171Gly)
c.2033A>G (p.Asp678Gly)
n.270A>G
c.2162A>G (p.Asp721Gly)
c.2128+5738A>G (n.2128+5738A>G)
n.2370A>G
n.2578A>G
c.1787A>G (p.Asp596Gly)
c.812A>G (p.Asp271Gly)
c.1526A>G (p.Asp509Gly)
n.2322A>G
n.2530A>G
1g.197427694A>TCA344037066CRB1c.2369A>T (p.Asp790Val)
c.1250A>T (p.Asp417Val)
c.512A>T (p.Asp171Val)
c.2033A>T (p.Asp678Val)
n.270A>T
c.2162A>T (p.Asp721Val)
c.2128+5738A>T (n.2128+5738A>T)
n.2370A>T
n.2578A>T
c.1787A>T (p.Asp596Val)
c.812A>T (p.Asp271Val)
c.1526A>T (p.Asp509Val)
n.2322A>T
n.2530A>T
 dbSNP gnomAD v3 gnomAD v4
1g.197427695T>ACA344037067CRB1c.2370T>A (p.Asp790Glu)
c.1251T>A (p.Asp417Glu)
c.513T>A (p.Asp171Glu)
c.2034T>A (p.Asp678Glu)
n.271T>A
c.2163T>A (p.Asp721Glu)
c.2128+5739T>A (n.2128+5739T>A)
n.2371T>A
n.2579T>A
c.1788T>A (p.Asp596Glu)
c.813T>A (p.Asp271Glu)
c.1527T>A (p.Asp509Glu)
n.2323T>A
n.2531T>A
 gnomAD v4
1g.197427695T>CCA422809273CRB1c.2370T>C (p.Asp790=)
c.1251T>C (p.Asp417=)
c.513T>C (p.Asp171=)
c.2034T>C (p.Asp678=)
n.271T>C
c.2163T>C (p.Asp721=)
c.2128+5739T>C (n.2128+5739T>C)
n.2371T>C
n.2579T>C
c.1788T>C (p.Asp596=)
c.813T>C (p.Asp271=)
c.1527T>C (p.Asp509=)
n.2323T>C
n.2531T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427695T>GCA344037068CRB1c.2370T>G (p.Asp790Glu)
c.1251T>G (p.Asp417Glu)
c.513T>G (p.Asp171Glu)
c.2034T>G (p.Asp678Glu)
n.271T>G
c.2163T>G (p.Asp721Glu)
c.2128+5739T>G (n.2128+5739T>G)
n.2371T>G
n.2579T>G
c.1788T>G (p.Asp596Glu)
c.813T>G (p.Asp271Glu)
c.1527T>G (p.Asp509Glu)
n.2323T>G
n.2531T>G
1g.197427695T=CA1218066185CRB1c.2370T= (p.Asp790=)
c.1251T= (p.Asp417=)
c.513T= (p.Asp171=)
c.2034T= (p.Asp678=)
n.271T=
c.2163T= (p.Asp721=)
c.2128+5739T= (n.2128+5739T=)
n.2371T=
n.2579T=
c.1788T= (p.Asp596=)
c.813T= (p.Asp271=)
c.1527T= (p.Asp509=)
n.2323T=
n.2531T=
1g.197427696G>ACA344037069CRB1c.2371G>A (p.Gly791Arg)
c.1252G>A (p.Gly418Arg)
c.514G>A (p.Gly172Arg)
c.2035G>A (p.Gly679Arg)
n.272G>A
c.2164G>A (p.Gly722Arg)
c.2128+5740G>A (n.2128+5740G>A)
n.2372G>A
n.2580G>A
c.1789G>A (p.Gly597Arg)
c.814G>A (p.Gly272Arg)
c.1528G>A (p.Gly510Arg)
n.2324G>A
n.2532G>A
 gnomAD v4 COSMIC COSMIC
1g.197427696G>CCA344037070CRB1c.2371G>C (p.Gly791Arg)
c.1252G>C (p.Gly418Arg)
c.514G>C (p.Gly172Arg)
c.2035G>C (p.Gly679Arg)
n.272G>C
c.2164G>C (p.Gly722Arg)
c.2128+5740G>C (n.2128+5740G>C)
n.2372G>C
n.2580G>C
c.1789G>C (p.Gly597Arg)
c.814G>C (p.Gly272Arg)
c.1528G>C (p.Gly510Arg)
n.2324G>C
n.2532G>C
 ClinVar
1g.197427696G>TCA344037071CRB1c.2371G>T (p.Gly791Ter)
c.1252G>T (p.Gly418Ter)
c.514G>T (p.Gly172Ter)
c.2035G>T (p.Gly679Ter)
n.272G>T
c.2164G>T (p.Gly722Ter)
c.2128+5740G>T (n.2128+5740G>T)
n.2372G>T
n.2580G>T
c.1789G>T (p.Gly597Ter)
c.814G>T (p.Gly272Ter)
c.1528G>T (p.Gly510Ter)
n.2324G>T
n.2532G>T
1g.197427697G>ACA344037074CRB1c.2372G>A (p.Gly791Glu)
c.1253G>A (p.Gly418Glu)
c.515G>A (p.Gly172Glu)
c.2036G>A (p.Gly679Glu)
n.273G>A
c.2165G>A (p.Gly722Glu)
c.2128+5741G>A (n.2128+5741G>A)
n.2373G>A
n.2581G>A
c.1790G>A (p.Gly597Glu)
c.815G>A (p.Gly272Glu)
c.1529G>A (p.Gly510Glu)
n.2325G>A
n.2533G>A
 gnomAD v4
1g.197427697G>CCA344037072CRB1c.2372G>C (p.Gly791Ala)
c.1253G>C (p.Gly418Ala)
c.515G>C (p.Gly172Ala)
c.2036G>C (p.Gly679Ala)
n.273G>C
c.2165G>C (p.Gly722Ala)
c.2128+5741G>C (n.2128+5741G>C)
n.2373G>C
n.2581G>C
c.1790G>C (p.Gly597Ala)
c.815G>C (p.Gly272Ala)
c.1529G>C (p.Gly510Ala)
n.2325G>C
n.2533G>C
1g.197427697G>TCA344037073CRB1c.2372G>T (p.Gly791Val)
c.1253G>T (p.Gly418Val)
c.515G>T (p.Gly172Val)
c.2036G>T (p.Gly679Val)
n.273G>T
c.2165G>T (p.Gly722Val)
c.2128+5741G>T (n.2128+5741G>T)
n.2373G>T
n.2581G>T
c.1790G>T (p.Gly597Val)
c.815G>T (p.Gly272Val)
c.1529G>T (p.Gly510Val)
n.2325G>T
n.2533G>T
1g.197427698A=CA1218066187CRB1c.2373A= (p.Gly791=)
c.1254A= (p.Gly418=)
c.516A= (p.Gly172=)
c.2037A= (p.Gly679=)
n.274A=
c.2166A= (p.Gly722=)
c.2128+5742A= (n.2128+5742A=)
n.2374A=
n.2582A=
c.1791A= (p.Gly597=)
c.816A= (p.Gly272=)
c.1530A= (p.Gly510=)
n.2326A=
n.2534A=
1g.197427698A>CCA422809285CRB1c.2373A>C (p.Gly791=)
c.1254A>C (p.Gly418=)
c.516A>C (p.Gly172=)
c.2037A>C (p.Gly679=)
n.274A>C
c.2166A>C (p.Gly722=)
c.2128+5742A>C (n.2128+5742A>C)
n.2374A>C
n.2582A>C
c.1791A>C (p.Gly597=)
c.816A>C (p.Gly272=)
c.1530A>C (p.Gly510=)
n.2326A>C
n.2534A>C
1g.197427698A>GCA422809287CRB1c.2373A>G (p.Gly791=)
c.1254A>G (p.Gly418=)
c.516A>G (p.Gly172=)
c.2037A>G (p.Gly679=)
n.274A>G
c.2166A>G (p.Gly722=)
c.2128+5742A>G (n.2128+5742A>G)
n.2374A>G
n.2582A>G
c.1791A>G (p.Gly597=)
c.816A>G (p.Gly272=)
c.1530A>G (p.Gly510=)
n.2326A>G
n.2534A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197427698A>TCA422809288CRB1c.2373A>T (p.Gly791=)
c.1254A>T (p.Gly418=)
c.516A>T (p.Gly172=)
c.2037A>T (p.Gly679=)
n.274A>T
c.2166A>T (p.Gly722=)
c.2128+5742A>T (n.2128+5742A>T)
n.2374A>T
n.2582A>T
c.1791A>T (p.Gly597=)
c.816A>T (p.Gly272=)
c.1530A>T (p.Gly510=)
n.2326A>T
n.2534A>T
 COSMIC
1g.197427699A>CCA344037075CRB1c.2374A>C (p.Asn792His)
c.1255A>C (p.Asn419His)
c.517A>C (p.Asn173His)
c.2038A>C (p.Asn680His)
n.275A>C
c.2167A>C (p.Asn723His)
c.2128+5743A>C (n.2128+5743A>C)
n.2375A>C
n.2583A>C
c.1792A>C (p.Asn598His)
c.817A>C (p.Asn273His)
c.1531A>C (p.Asn511His)
n.2327A>C
n.2535A>C
1g.197427699A>GCA344037076CRB1c.2374A>G (p.Asn792Asp)
c.1255A>G (p.Asn419Asp)
c.517A>G (p.Asn173Asp)
c.2038A>G (p.Asn680Asp)
n.275A>G
c.2167A>G (p.Asn723Asp)
c.2128+5743A>G (n.2128+5743A>G)
n.2375A>G
n.2583A>G
c.1792A>G (p.Asn598Asp)
c.817A>G (p.Asn273Asp)
c.1531A>G (p.Asn511Asp)
n.2327A>G
n.2535A>G
1g.197427699A>TCA344037077CRB1c.2374A>T (p.Asn792Tyr)
c.1255A>T (p.Asn419Tyr)
c.517A>T (p.Asn173Tyr)
c.2038A>T (p.Asn680Tyr)
n.275A>T
c.2167A>T (p.Asn723Tyr)
c.2128+5743A>T (n.2128+5743A>T)
n.2375A>T
n.2583A>T
c.1792A>T (p.Asn598Tyr)
c.817A>T (p.Asn273Tyr)
c.1531A>T (p.Asn511Tyr)
n.2327A>T
n.2535A>T
1g.197427700A=CA1148229772CRB1c.2375A= (p.Asn792=)
c.1256A= (p.Asn419=)
c.518A= (p.Asn173=)
c.2039A= (p.Asn680=)
n.276A=
c.2168A= (p.Asn723=)
c.2128+5744A= (n.2128+5744A=)
n.2376A=
n.2584A=
c.1793A= (p.Asn598=)
c.818A= (p.Asn273=)
c.1532A= (p.Asn511=)
n.2328A=
n.2536A=
1g.197427700A>CCA344037078CRB1c.2375A>C (p.Asn792Thr)
c.1256A>C (p.Asn419Thr)
c.518A>C (p.Asn173Thr)
c.2039A>C (p.Asn680Thr)
n.276A>C
c.2168A>C (p.Asn723Thr)
c.2128+5744A>C (n.2128+5744A>C)
n.2376A>C
n.2584A>C
c.1793A>C (p.Asn598Thr)
c.818A>C (p.Asn273Thr)
c.1532A>C (p.Asn511Thr)
n.2328A>C
n.2536A>C
1g.197427700A>GCA1312111CRB1c.2375A>G (p.Asn792Ser)
c.1256A>G (p.Asn419Ser)
c.518A>G (p.Asn173Ser)
c.2039A>G (p.Asn680Ser)
n.276A>G
c.2168A>G (p.Asn723Ser)
c.2128+5744A>G (n.2128+5744A>G)
n.2376A>G
n.2584A>G
c.1793A>G (p.Asn598Ser)
c.818A>G (p.Asn273Ser)
c.1532A>G (p.Asn511Ser)
n.2328A>G
n.2536A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427700A>TCA344037079CRB1c.2375A>T (p.Asn792Ile)
c.1256A>T (p.Asn419Ile)
c.518A>T (p.Asn173Ile)
c.2039A>T (p.Asn680Ile)
n.276A>T
c.2168A>T (p.Asn723Ile)
c.2128+5744A>T (n.2128+5744A>T)
n.2376A>T
n.2584A>T
c.1793A>T (p.Asn598Ile)
c.818A>T (p.Asn273Ile)
c.1532A>T (p.Asn511Ile)
n.2328A>T
n.2536A>T

Number of alleles fetched