Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197427451A=CA1218065864CRB1c.2129-3A= (n.2129-3A=)
c.1010-3A= (n.1010-3A=)
c.272-3A= (n.272-3A=)
c.1793-3A= (n.1793-3A=)
n.30-3A=
c.1922-3A= (n.1922-3A=)
c.2128+5495A= (n.2128+5495A=)
n.2130-3A=
n.2338-3A=
c.1547-3A= (n.1547-3A=)
c.572-3A= (n.572-3A=)
c.1286-3A= (n.1286-3A=)
n.2082-3A=
n.2290-3A=
1g.197427451A>GCA1312058CRB1c.2129-3A>G (n.2129-3A>G)
c.1010-3A>G (n.1010-3A>G)
c.272-3A>G (n.272-3A>G)
c.1793-3A>G (n.1793-3A>G)
n.30-3A>G
c.1922-3A>G (n.1922-3A>G)
c.2128+5495A>G (n.2128+5495A>G)
n.2130-3A>G
n.2338-3A>G
c.1547-3A>G (n.1547-3A>G)
c.572-3A>G (n.572-3A>G)
c.1286-3A>G (n.1286-3A>G)
n.2082-3A>G
n.2290-3A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427452A>CCA344036257CRB1c.2129-2A>C (n.2129-2A>C)
c.1010-2A>C (n.1010-2A>C)
c.272-2A>C (n.272-2A>C)
c.1793-2A>C (n.1793-2A>C)
n.30-2A>C
c.1922-2A>C (n.1922-2A>C)
c.2128+5496A>C (n.2128+5496A>C)
n.2130-2A>C
n.2338-2A>C
c.1547-2A>C (n.1547-2A>C)
c.572-2A>C (n.572-2A>C)
c.1286-2A>C (n.1286-2A>C)
n.2082-2A>C
n.2290-2A>C
 ClinVar
1g.197427452A>GCA344036259CRB1c.2129-2A>G (n.2129-2A>G)
c.1010-2A>G (n.1010-2A>G)
c.272-2A>G (n.272-2A>G)
c.1793-2A>G (n.1793-2A>G)
n.30-2A>G
c.1922-2A>G (n.1922-2A>G)
c.2128+5496A>G (n.2128+5496A>G)
n.2130-2A>G
n.2338-2A>G
c.1547-2A>G (n.1547-2A>G)
c.572-2A>G (n.572-2A>G)
c.1286-2A>G (n.1286-2A>G)
n.2082-2A>G
n.2290-2A>G
 ClinVar dbSNP
1g.197427452A>TCA344036261CRB1c.2129-2A>T (n.2129-2A>T)
c.1010-2A>T (n.1010-2A>T)
c.272-2A>T (n.272-2A>T)
c.1793-2A>T (n.1793-2A>T)
n.30-2A>T
c.1922-2A>T (n.1922-2A>T)
c.2128+5496A>T (n.2128+5496A>T)
n.2130-2A>T
n.2338-2A>T
c.1547-2A>T (n.1547-2A>T)
c.572-2A>T (n.572-2A>T)
c.1286-2A>T (n.1286-2A>T)
n.2082-2A>T
n.2290-2A>T
1g.197427453G>ACA344036264CRB1c.2129-1G>A (n.2129-1G>A)
c.1010-1G>A (n.1010-1G>A)
c.272-1G>A (n.272-1G>A)
c.1793-1G>A (n.1793-1G>A)
n.30-1G>A
c.1922-1G>A (n.1922-1G>A)
c.2128+5497G>A (n.2128+5497G>A)
n.2130-1G>A
n.2338-1G>A
c.1547-1G>A (n.1547-1G>A)
c.572-1G>A (n.572-1G>A)
c.1286-1G>A (n.1286-1G>A)
n.2082-1G>A
n.2290-1G>A
 ClinVar COSMIC
1g.197427453G>CCA344036265CRB1c.2129-1G>C (n.2129-1G>C)
c.1010-1G>C (n.1010-1G>C)
c.272-1G>C (n.272-1G>C)
c.1793-1G>C (n.1793-1G>C)
n.30-1G>C
c.1922-1G>C (n.1922-1G>C)
c.2128+5497G>C (n.2128+5497G>C)
n.2130-1G>C
n.2338-1G>C
c.1547-1G>C (n.1547-1G>C)
c.572-1G>C (n.572-1G>C)
c.1286-1G>C (n.1286-1G>C)
n.2082-1G>C
n.2290-1G>C
 ClinVar dbSNP COSMIC
1g.197427453G=CA1218065866CRB1c.2129-1G= (n.2129-1G=)
c.1010-1G= (n.1010-1G=)
c.272-1G= (n.272-1G=)
c.1793-1G= (n.1793-1G=)
n.30-1G=
c.1922-1G= (n.1922-1G=)
c.2128+5497G= (n.2128+5497G=)
n.2130-1G=
n.2338-1G=
c.1547-1G= (n.1547-1G=)
c.572-1G= (n.572-1G=)
c.1286-1G= (n.1286-1G=)
n.2082-1G=
n.2290-1G=
1g.197427453G>TCA344036267CRB1c.2129-1G>T (n.2129-1G>T)
c.1010-1G>T (n.1010-1G>T)
c.272-1G>T (n.272-1G>T)
c.1793-1G>T (n.1793-1G>T)
n.30-1G>T
c.1922-1G>T (n.1922-1G>T)
c.2128+5497G>T (n.2128+5497G>T)
n.2130-1G>T
n.2338-1G>T
c.1547-1G>T (n.1547-1G>T)
c.572-1G>T (n.572-1G>T)
c.1286-1G>T (n.1286-1G>T)
n.2082-1G>T
n.2290-1G>T
 ClinVar
1g.197427454A=CA1142044929CRB1c.2129A= (p.Glu710=)
c.1010A= (p.Glu337=)
c.272A= (p.Glu91=)
c.1793A= (p.Glu598=)
n.30A=
c.1922A= (p.Glu641=)
c.2128+5498A= (n.2128+5498A=)
n.2130A=
n.2338A=
c.1547A= (p.Glu516=)
c.572A= (p.Glu191=)
c.1286A= (p.Glu429=)
n.2082A=
n.2290A=
1g.197427454A>CCA344036269CRB1c.2129A>C (p.Glu710Ala)
c.1010A>C (p.Glu337Ala)
c.272A>C (p.Glu91Ala)
c.1793A>C (p.Glu598Ala)
n.30A>C
c.1922A>C (p.Glu641Ala)
c.2128+5498A>C (n.2128+5498A>C)
n.2130A>C
n.2338A>C
c.1547A>C (p.Glu516Ala)
c.572A>C (p.Glu191Ala)
c.1286A>C (p.Glu429Ala)
n.2082A>C
n.2290A>C
 COSMIC
1g.197427454A>GCA344036270CRB1c.2129A>G (p.Glu710Gly)
c.1010A>G (p.Glu337Gly)
c.272A>G (p.Glu91Gly)
c.1793A>G (p.Glu598Gly)
n.30A>G
c.1922A>G (p.Glu641Gly)
c.2128+5498A>G (n.2128+5498A>G)
n.2130A>G
n.2338A>G
c.1547A>G (p.Glu516Gly)
c.572A>G (p.Glu191Gly)
c.1286A>G (p.Glu429Gly)
n.2082A>G
n.2290A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197427454A>TCA1312059CRB1c.2129A>T (p.Glu710Val)
c.1010A>T (p.Glu337Val)
c.272A>T (p.Glu91Val)
c.1793A>T (p.Glu598Val)
n.30A>T
c.1922A>T (p.Glu641Val)
c.2128+5498A>T (n.2128+5498A>T)
n.2130A>T
n.2338A>T
c.1547A>T (p.Glu516Val)
c.572A>T (p.Glu191Val)
c.1286A>T (p.Glu429Val)
n.2082A>T
n.2290A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427455G>ACA422808289CRB1c.2130G>A (p.Glu710=)
c.1011G>A (p.Glu337=)
c.273G>A (p.Glu91=)
c.1794G>A (p.Glu598=)
n.31G>A
c.1923G>A (p.Glu641=)
c.2128+5499G>A (n.2128+5499G>A)
n.2131G>A
n.2339G>A
c.1548G>A (p.Glu516=)
c.573G>A (p.Glu191=)
c.1287G>A (p.Glu429=)
n.2083G>A
n.2291G>A
 ClinVar dbSNP
1g.197427455G>CCA344036274CRB1c.2130G>C (p.Glu710Asp)
c.1011G>C (p.Glu337Asp)
c.273G>C (p.Glu91Asp)
c.1794G>C (p.Glu598Asp)
n.31G>C
c.1923G>C (p.Glu641Asp)
c.2128+5499G>C (n.2128+5499G>C)
n.2131G>C
n.2339G>C
c.1548G>C (p.Glu516Asp)
c.573G>C (p.Glu191Asp)
c.1287G>C (p.Glu429Asp)
n.2083G>C
n.2291G>C
 dbSNP gnomAD v2 gnomAD v4
1g.197427455G=CA1218065869CRB1c.2130G= (p.Glu710=)
c.1011G= (p.Glu337=)
c.273G= (p.Glu91=)
c.1794G= (p.Glu598=)
n.31G=
c.1923G= (p.Glu641=)
c.2128+5499G= (n.2128+5499G=)
n.2131G=
n.2339G=
c.1548G= (p.Glu516=)
c.573G= (p.Glu191=)
c.1287G= (p.Glu429=)
n.2083G=
n.2291G=
1g.197427455G>TCA344036279CRB1c.2130G>T (p.Glu710Asp)
c.1011G>T (p.Glu337Asp)
c.273G>T (p.Glu91Asp)
c.1794G>T (p.Glu598Asp)
n.31G>T
c.1923G>T (p.Glu641Asp)
c.2128+5499G>T (n.2128+5499G>T)
n.2131G>T
n.2339G>T
c.1548G>T (p.Glu516Asp)
c.573G>T (p.Glu191Asp)
c.1287G>T (p.Glu429Asp)
n.2083G>T
n.2291G>T
 gnomAD v4
1g.197427456T>ACA344036282CRB1c.2131T>A (p.Tyr711Asn)
c.1012T>A (p.Tyr338Asn)
c.274T>A (p.Tyr92Asn)
c.1795T>A (p.Tyr599Asn)
n.32T>A
c.1924T>A (p.Tyr642Asn)
c.2128+5500T>A (n.2128+5500T>A)
n.2132T>A
n.2340T>A
c.1549T>A (p.Tyr517Asn)
c.574T>A (p.Tyr192Asn)
c.1288T>A (p.Tyr430Asn)
n.2084T>A
n.2292T>A
1g.197427456T>CCA344036285CRB1c.2131T>C (p.Tyr711His)
c.1012T>C (p.Tyr338His)
c.274T>C (p.Tyr92His)
c.1795T>C (p.Tyr599His)
n.32T>C
c.1924T>C (p.Tyr642His)
c.2128+5500T>C (n.2128+5500T>C)
n.2132T>C
n.2340T>C
c.1549T>C (p.Tyr517His)
c.574T>C (p.Tyr192His)
c.1288T>C (p.Tyr430His)
n.2084T>C
n.2292T>C
 gnomAD v4
1g.197427456T>GCA35900268CRB1c.2131T>G (p.Tyr711Asp)
c.1012T>G (p.Tyr338Asp)
c.274T>G (p.Tyr92Asp)
c.1795T>G (p.Tyr599Asp)
n.32T>G
c.1924T>G (p.Tyr642Asp)
c.2128+5500T>G (n.2128+5500T>G)
n.2132T>G
n.2340T>G
c.1549T>G (p.Tyr517Asp)
c.574T>G (p.Tyr192Asp)
c.1288T>G (p.Tyr430Asp)
n.2084T>G
n.2292T>G
 dbSNP
1g.197427456T=CA1218065872CRB1c.2131T= (p.Tyr711=)
c.1012T= (p.Tyr338=)
c.274T= (p.Tyr92=)
c.1795T= (p.Tyr599=)
n.32T=
c.1924T= (p.Tyr642=)
c.2128+5500T= (n.2128+5500T=)
n.2132T=
n.2340T=
c.1549T= (p.Tyr517=)
c.574T= (p.Tyr192=)
c.1288T= (p.Tyr430=)
n.2084T=
n.2292T=
1g.197427457_197427458delCA2580061815CRB1c.2132_2133del (p.Tyr711CysfsTer9)
c.1013_1014del (p.Tyr338CysfsTer9)
c.275_276del (p.Tyr92CysfsTer9)
c.1796_1797del (p.Tyr599CysfsTer9)
n.33_34del
c.1925_1926del (p.Tyr642CysfsTer9)
c.2128+5501_2128+5502del (n.2128+5501_2128+5502del)
n.2133_2134del
n.2341_2342del
c.1550_1551del (p.Tyr517CysfsTer9)
c.575_576del (p.Tyr192CysfsTer9)
c.1289_1290del (p.Tyr430CysfsTer9)
n.2085_2086del
n.2293_2294del
 ClinVar
1g.197427457A=CA1218065877CRB1c.2132A= (p.Tyr711=)
c.1013A= (p.Tyr338=)
c.275A= (p.Tyr92=)
c.1796A= (p.Tyr599=)
n.33A=
c.1925A= (p.Tyr642=)
c.2128+5501A= (n.2128+5501A=)
n.2133A=
n.2341A=
c.1550A= (p.Tyr517=)
c.575A= (p.Tyr192=)
c.1289A= (p.Tyr430=)
n.2085A=
n.2293A=
1g.197427457A>CCA344036288CRB1c.2132A>C (p.Tyr711Ser)
c.1013A>C (p.Tyr338Ser)
c.275A>C (p.Tyr92Ser)
c.1796A>C (p.Tyr599Ser)
n.33A>C
c.1925A>C (p.Tyr642Ser)
c.2128+5501A>C (n.2128+5501A>C)
n.2133A>C
n.2341A>C
c.1550A>C (p.Tyr517Ser)
c.575A>C (p.Tyr192Ser)
c.1289A>C (p.Tyr430Ser)
n.2085A>C
n.2293A>C
1g.197427457A>GCA344036292CRB1c.2132A>G (p.Tyr711Cys)
c.1013A>G (p.Tyr338Cys)
c.275A>G (p.Tyr92Cys)
c.1796A>G (p.Tyr599Cys)
n.33A>G
c.1925A>G (p.Tyr642Cys)
c.2128+5501A>G (n.2128+5501A>G)
n.2133A>G
n.2341A>G
c.1550A>G (p.Tyr517Cys)
c.575A>G (p.Tyr192Cys)
c.1289A>G (p.Tyr430Cys)
n.2085A>G
n.2293A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197427457A>TCA344036290CRB1c.2132A>T (p.Tyr711Phe)
c.1013A>T (p.Tyr338Phe)
c.275A>T (p.Tyr92Phe)
c.1796A>T (p.Tyr599Phe)
n.33A>T
c.1925A>T (p.Tyr642Phe)
c.2128+5501A>T (n.2128+5501A>T)
n.2133A>T
n.2341A>T
c.1550A>T (p.Tyr517Phe)
c.575A>T (p.Tyr192Phe)
c.1289A>T (p.Tyr430Phe)
n.2085A>T
n.2293A>T
1g.197427458T>ACA344036295CRB1c.2133T>A (p.Tyr711Ter)
c.1014T>A (p.Tyr338Ter)
c.276T>A (p.Tyr92Ter)
c.1797T>A (p.Tyr599Ter)
n.34T>A
c.1926T>A (p.Tyr642Ter)
c.2128+5502T>A (n.2128+5502T>A)
n.2134T>A
n.2342T>A
c.1551T>A (p.Tyr517Ter)
c.576T>A (p.Tyr192Ter)
c.1290T>A (p.Tyr430Ter)
n.2086T>A
n.2294T>A
 ClinVar dbSNP
1g.197427458T>CCA1312060CRB1c.2133T>C (p.Tyr711=)
c.1014T>C (p.Tyr338=)
c.276T>C (p.Tyr92=)
c.1797T>C (p.Tyr599=)
n.34T>C
c.1926T>C (p.Tyr642=)
c.2128+5502T>C (n.2128+5502T>C)
n.2134T>C
n.2342T>C
c.1551T>C (p.Tyr517=)
c.576T>C (p.Tyr192=)
c.1290T>C (p.Tyr430=)
n.2086T>C
n.2294T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427458T>GCA344036297CRB1c.2133T>G (p.Tyr711Ter)
c.1014T>G (p.Tyr338Ter)
c.276T>G (p.Tyr92Ter)
c.1797T>G (p.Tyr599Ter)
n.34T>G
c.1926T>G (p.Tyr642Ter)
c.2128+5502T>G (n.2128+5502T>G)
n.2134T>G
n.2342T>G
c.1551T>G (p.Tyr517Ter)
c.576T>G (p.Tyr192Ter)
c.1290T>G (p.Tyr430Ter)
n.2086T>G
n.2294T>G
1g.197427458T=CA1218065881CRB1c.2133T= (p.Tyr711=)
c.1014T= (p.Tyr338=)
c.276T= (p.Tyr92=)
c.1797T= (p.Tyr599=)
n.34T=
c.1926T= (p.Tyr642=)
c.2128+5502T= (n.2128+5502T=)
n.2134T=
n.2342T=
c.1551T= (p.Tyr517=)
c.576T= (p.Tyr192=)
c.1290T= (p.Tyr430=)
n.2086T=
n.2294T=
1g.197427459G>ACA344036300CRB1c.2134G>A (p.Val712Met)
c.1015G>A (p.Val339Met)
c.277G>A (p.Val93Met)
c.1798G>A (p.Val600Met)
n.35G>A
c.1927G>A (p.Val643Met)
c.2128+5503G>A (n.2128+5503G>A)
n.2135G>A
n.2343G>A
c.1552G>A (p.Val518Met)
c.577G>A (p.Val193Met)
c.1291G>A (p.Val431Met)
n.2087G>A
n.2295G>A
 gnomAD v4
1g.197427459G>CCA344036302CRB1c.2134G>C (p.Val712Leu)
c.1015G>C (p.Val339Leu)
c.277G>C (p.Val93Leu)
c.1798G>C (p.Val600Leu)
n.35G>C
c.1927G>C (p.Val643Leu)
c.2128+5503G>C (n.2128+5503G>C)
n.2135G>C
n.2343G>C
c.1552G>C (p.Val518Leu)
c.577G>C (p.Val193Leu)
c.1291G>C (p.Val431Leu)
n.2087G>C
n.2295G>C
1g.197427459G=CA1218065883CRB1c.2134G= (p.Val712=)
c.1015G= (p.Val339=)
c.277G= (p.Val93=)
c.1798G= (p.Val600=)
n.35G=
c.1927G= (p.Val643=)
c.2128+5503G= (n.2128+5503G=)
n.2135G=
n.2343G=
c.1552G= (p.Val518=)
c.577G= (p.Val193=)
c.1291G= (p.Val431=)
n.2087G=
n.2295G=
1g.197427459G>TCA1312061CRB1c.2134G>T (p.Val712Leu)
c.1015G>T (p.Val339Leu)
c.277G>T (p.Val93Leu)
c.1798G>T (p.Val600Leu)
n.35G>T
c.1927G>T (p.Val643Leu)
c.2128+5503G>T (n.2128+5503G>T)
n.2135G>T
n.2343G>T
c.1552G>T (p.Val518Leu)
c.577G>T (p.Val193Leu)
c.1291G>T (p.Val431Leu)
n.2087G>T
n.2295G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427460T>ACA344036305CRB1c.2135T>A (p.Val712Glu)
c.1016T>A (p.Val339Glu)
c.278T>A (p.Val93Glu)
c.1799T>A (p.Val600Glu)
n.36T>A
c.1928T>A (p.Val643Glu)
c.2128+5504T>A (n.2128+5504T>A)
n.2136T>A
n.2344T>A
c.1553T>A (p.Val518Glu)
c.578T>A (p.Val193Glu)
c.1292T>A (p.Val431Glu)
n.2088T>A
n.2296T>A
1g.197427460T>CCA344036307CRB1c.2135T>C (p.Val712Ala)
c.1016T>C (p.Val339Ala)
c.278T>C (p.Val93Ala)
c.1799T>C (p.Val600Ala)
n.36T>C
c.1928T>C (p.Val643Ala)
c.2128+5504T>C (n.2128+5504T>C)
n.2136T>C
n.2344T>C
c.1553T>C (p.Val518Ala)
c.578T>C (p.Val193Ala)
c.1292T>C (p.Val431Ala)
n.2088T>C
n.2296T>C
 dbSNP gnomAD v4
1g.197427460T>GCA344036309CRB1c.2135T>G (p.Val712Gly)
c.1016T>G (p.Val339Gly)
c.278T>G (p.Val93Gly)
c.1799T>G (p.Val600Gly)
n.36T>G
c.1928T>G (p.Val643Gly)
c.2128+5504T>G (n.2128+5504T>G)
n.2136T>G
n.2344T>G
c.1553T>G (p.Val518Gly)
c.578T>G (p.Val193Gly)
c.1292T>G (p.Val431Gly)
n.2088T>G
n.2296T>G
1g.197427460T=CA1218065885CRB1c.2135T= (p.Val712=)
c.1016T= (p.Val339=)
c.278T= (p.Val93=)
c.1799T= (p.Val600=)
n.36T=
c.1928T= (p.Val643=)
c.2128+5504T= (n.2128+5504T=)
n.2136T=
n.2344T=
c.1553T= (p.Val518=)
c.578T= (p.Val193=)
c.1292T= (p.Val431=)
n.2088T=
n.2296T=
1g.197427461G>ACA422808791CRB1c.2136G>A (p.Val712=)
c.1017G>A (p.Val339=)
c.279G>A (p.Val93=)
c.1800G>A (p.Val600=)
n.37G>A
c.1929G>A (p.Val643=)
c.2128+5505G>A (n.2128+5505G>A)
n.2137G>A
n.2345G>A
c.1554G>A (p.Val518=)
c.579G>A (p.Val193=)
c.1293G>A (p.Val431=)
n.2089G>A
n.2297G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427461G>CCA422808793CRB1c.2136G>C (p.Val712=)
c.1017G>C (p.Val339=)
c.279G>C (p.Val93=)
c.1800G>C (p.Val600=)
n.37G>C
c.1929G>C (p.Val643=)
c.2128+5505G>C (n.2128+5505G>C)
n.2137G>C
n.2345G>C
c.1554G>C (p.Val518=)
c.579G>C (p.Val193=)
c.1293G>C (p.Val431=)
n.2089G>C
n.2297G>C
1g.197427461G=CA1218065887CRB1c.2136G= (p.Val712=)
c.1017G= (p.Val339=)
c.279G= (p.Val93=)
c.1800G= (p.Val600=)
n.37G=
c.1929G= (p.Val643=)
c.2128+5505G= (n.2128+5505G=)
n.2137G=
n.2345G=
c.1554G= (p.Val518=)
c.579G= (p.Val193=)
c.1293G= (p.Val431=)
n.2089G=
n.2297G=
1g.197427461G>TCA422808792CRB1c.2136G>T (p.Val712=)
c.1017G>T (p.Val339=)
c.279G>T (p.Val93=)
c.1800G>T (p.Val600=)
n.37G>T
c.1929G>T (p.Val643=)
c.2128+5505G>T (n.2128+5505G>T)
n.2137G>T
n.2345G>T
c.1554G>T (p.Val518=)
c.579G>T (p.Val193=)
c.1293G>T (p.Val431=)
n.2089G>T
n.2297G>T
1g.197427462G>ACA344036312CRB1c.2137G>A (p.Ala713Thr)
c.1018G>A (p.Ala340Thr)
c.280G>A (p.Ala94Thr)
c.1801G>A (p.Ala601Thr)
n.38G>A
c.1930G>A (p.Ala644Thr)
c.2128+5506G>A (n.2128+5506G>A)
n.2138G>A
n.2346G>A
c.1555G>A (p.Ala519Thr)
c.580G>A (p.Ala194Thr)
c.1294G>A (p.Ala432Thr)
n.2090G>A
n.2298G>A
 ClinVar dbSNP COSMIC COSMIC
1g.197427462G>CCA344036313CRB1c.2137G>C (p.Ala713Pro)
c.1018G>C (p.Ala340Pro)
c.280G>C (p.Ala94Pro)
c.1801G>C (p.Ala601Pro)
n.38G>C
c.1930G>C (p.Ala644Pro)
c.2128+5506G>C (n.2128+5506G>C)
n.2138G>C
n.2346G>C
c.1555G>C (p.Ala519Pro)
c.580G>C (p.Ala194Pro)
c.1294G>C (p.Ala432Pro)
n.2090G>C
n.2298G>C
1g.197427462G>TCA344036316CRB1c.2137G>T (p.Ala713Ser)
c.1018G>T (p.Ala340Ser)
c.280G>T (p.Ala94Ser)
c.1801G>T (p.Ala601Ser)
n.38G>T
c.1930G>T (p.Ala644Ser)
c.2128+5506G>T (n.2128+5506G>T)
n.2138G>T
n.2346G>T
c.1555G>T (p.Ala519Ser)
c.580G>T (p.Ala194Ser)
c.1294G>T (p.Ala432Ser)
n.2090G>T
n.2298G>T
1g.197427463C>ACA344036322CRB1c.2138C>A (p.Ala713Glu)
c.1019C>A (p.Ala340Glu)
c.281C>A (p.Ala94Glu)
c.1802C>A (p.Ala601Glu)
n.39C>A
c.1931C>A (p.Ala644Glu)
c.2128+5507C>A (n.2128+5507C>A)
n.2139C>A
n.2347C>A
c.1556C>A (p.Ala519Glu)
c.581C>A (p.Ala194Glu)
c.1295C>A (p.Ala432Glu)
n.2091C>A
n.2299C>A
1g.197427463C=CA1218065890CRB1c.2138C= (p.Ala713=)
c.1019C= (p.Ala340=)
c.281C= (p.Ala94=)
c.1802C= (p.Ala601=)
n.39C=
c.1931C= (p.Ala644=)
c.2128+5507C= (n.2128+5507C=)
n.2139C=
n.2347C=
c.1556C= (p.Ala519=)
c.581C= (p.Ala194=)
c.1295C= (p.Ala432=)
n.2091C=
n.2299C=
1g.197427463C>GCA344036318CRB1c.2138C>G (p.Ala713Gly)
c.1019C>G (p.Ala340Gly)
c.281C>G (p.Ala94Gly)
c.1802C>G (p.Ala601Gly)
n.39C>G
c.1931C>G (p.Ala644Gly)
c.2128+5507C>G (n.2128+5507C>G)
n.2139C>G
n.2347C>G
c.1556C>G (p.Ala519Gly)
c.581C>G (p.Ala194Gly)
c.1295C>G (p.Ala432Gly)
n.2091C>G
n.2299C>G
1g.197427463C>TCA344036321CRB1c.2138C>T (p.Ala713Val)
c.1019C>T (p.Ala340Val)
c.281C>T (p.Ala94Val)
c.1802C>T (p.Ala601Val)
n.39C>T
c.1931C>T (p.Ala644Val)
c.2128+5507C>T (n.2128+5507C>T)
n.2139C>T
n.2347C>T
c.1556C>T (p.Ala519Val)
c.581C>T (p.Ala194Val)
c.1295C>T (p.Ala432Val)
n.2091C>T
n.2299C>T
 ClinVar dbSNP COSMIC COSMIC
1g.197427464A>CCA422808798CRB1c.2139A>C (p.Ala713=)
c.1020A>C (p.Ala340=)
c.282A>C (p.Ala94=)
c.1803A>C (p.Ala601=)
n.40A>C
c.1932A>C (p.Ala644=)
c.2128+5508A>C (n.2128+5508A>C)
n.2140A>C
n.2348A>C
c.1557A>C (p.Ala519=)
c.582A>C (p.Ala194=)
c.1296A>C (p.Ala432=)
n.2092A>C
n.2300A>C
1g.197427464A>GCA422808799CRB1c.2139A>G (p.Ala713=)
c.1020A>G (p.Ala340=)
c.282A>G (p.Ala94=)
c.1803A>G (p.Ala601=)
n.40A>G
c.1932A>G (p.Ala644=)
c.2128+5508A>G (n.2128+5508A>G)
n.2140A>G
n.2348A>G
c.1557A>G (p.Ala519=)
c.582A>G (p.Ala194=)
c.1296A>G (p.Ala432=)
n.2092A>G
n.2300A>G
 ClinVar dbSNP gnomAD v4
1g.197427464A>TCA422808800CRB1c.2139A>T (p.Ala713=)
c.1020A>T (p.Ala340=)
c.282A>T (p.Ala94=)
c.1803A>T (p.Ala601=)
n.40A>T
c.1932A>T (p.Ala644=)
c.2128+5508A>T (n.2128+5508A>T)
n.2140A>T
n.2348A>T
c.1557A>T (p.Ala519=)
c.582A>T (p.Ala194=)
c.1296A>T (p.Ala432=)
n.2092A>T
n.2300A>T
1g.197427465G>ACA344036325CRB1c.2140G>A (p.Gly714Ser)
c.1021G>A (p.Gly341Ser)
c.283G>A (p.Gly95Ser)
c.1804G>A (p.Gly602Ser)
n.41G>A
c.1933G>A (p.Gly645Ser)
c.2128+5509G>A (n.2128+5509G>A)
n.2141G>A
n.2349G>A
c.1558G>A (p.Gly520Ser)
c.583G>A (p.Gly195Ser)
c.1297G>A (p.Gly433Ser)
n.2093G>A
n.2301G>A
 gnomAD v4
1g.197427465G>CCA344036327CRB1c.2140G>C (p.Gly714Arg)
c.1021G>C (p.Gly341Arg)
c.283G>C (p.Gly95Arg)
c.1804G>C (p.Gly602Arg)
n.41G>C
c.1933G>C (p.Gly645Arg)
c.2128+5509G>C (n.2128+5509G>C)
n.2141G>C
n.2349G>C
c.1558G>C (p.Gly520Arg)
c.583G>C (p.Gly195Arg)
c.1297G>C (p.Gly433Arg)
n.2093G>C
n.2301G>C
1g.197427465G>TCA344036328CRB1c.2140G>T (p.Gly714Cys)
c.1021G>T (p.Gly341Cys)
c.283G>T (p.Gly95Cys)
c.1804G>T (p.Gly602Cys)
n.41G>T
c.1933G>T (p.Gly645Cys)
c.2128+5509G>T (n.2128+5509G>T)
n.2141G>T
n.2349G>T
c.1558G>T (p.Gly520Cys)
c.583G>T (p.Gly195Cys)
c.1297G>T (p.Gly433Cys)
n.2093G>T
n.2301G>T
1g.197427466G>ACA344036330CRB1c.2141G>A (p.Gly714Asp)
c.1022G>A (p.Gly341Asp)
c.284G>A (p.Gly95Asp)
c.1805G>A (p.Gly602Asp)
n.42G>A
c.1934G>A (p.Gly645Asp)
c.2128+5510G>A (n.2128+5510G>A)
n.2142G>A
n.2350G>A
c.1559G>A (p.Gly520Asp)
c.584G>A (p.Gly195Asp)
c.1298G>A (p.Gly433Asp)
n.2094G>A
n.2302G>A
 ClinVar dbSNP
1g.197427466G>CCA344036332CRB1c.2141G>C (p.Gly714Ala)
c.1022G>C (p.Gly341Ala)
c.284G>C (p.Gly95Ala)
c.1805G>C (p.Gly602Ala)
n.42G>C
c.1934G>C (p.Gly645Ala)
c.2128+5510G>C (n.2128+5510G>C)
n.2142G>C
n.2350G>C
c.1559G>C (p.Gly520Ala)
c.584G>C (p.Gly195Ala)
c.1298G>C (p.Gly433Ala)
n.2094G>C
n.2302G>C
1g.197427466G>TCA344036334CRB1c.2141G>T (p.Gly714Val)
c.1022G>T (p.Gly341Val)
c.284G>T (p.Gly95Val)
c.1805G>T (p.Gly602Val)
n.42G>T
c.1934G>T (p.Gly645Val)
c.2128+5510G>T (n.2128+5510G>T)
n.2142G>T
n.2350G>T
c.1559G>T (p.Gly520Val)
c.584G>T (p.Gly195Val)
c.1298G>T (p.Gly433Val)
n.2094G>T
n.2302G>T
 gnomAD v4
1g.197427467C>ACA422808802CRB1c.2142C>A (p.Gly714=)
c.1023C>A (p.Gly341=)
c.285C>A (p.Gly95=)
c.1806C>A (p.Gly602=)
n.43C>A
c.1935C>A (p.Gly645=)
c.2128+5511C>A (n.2128+5511C>A)
n.2143C>A
n.2351C>A
c.1560C>A (p.Gly520=)
c.585C>A (p.Gly195=)
c.1299C>A (p.Gly433=)
n.2095C>A
n.2303C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427467C=CA1218065894CRB1c.2142C= (p.Gly714=)
c.1023C= (p.Gly341=)
c.285C= (p.Gly95=)
c.1806C= (p.Gly602=)
n.43C=
c.1935C= (p.Gly645=)
c.2128+5511C= (n.2128+5511C=)
n.2143C=
n.2351C=
c.1560C= (p.Gly520=)
c.585C= (p.Gly195=)
c.1299C= (p.Gly433=)
n.2095C=
n.2303C=
1g.197427467C>GCA422808803CRB1c.2142C>G (p.Gly714=)
c.1023C>G (p.Gly341=)
c.285C>G (p.Gly95=)
c.1806C>G (p.Gly602=)
n.43C>G
c.1935C>G (p.Gly645=)
c.2128+5511C>G (n.2128+5511C>G)
n.2143C>G
n.2351C>G
c.1560C>G (p.Gly520=)
c.585C>G (p.Gly195=)
c.1299C>G (p.Gly433=)
n.2095C>G
n.2303C>G
 dbSNP
1g.197427467C>TCA422808804CRB1c.2142C>T (p.Gly714=)
c.1023C>T (p.Gly341=)
c.285C>T (p.Gly95=)
c.1806C>T (p.Gly602=)
n.43C>T
c.1935C>T (p.Gly645=)
c.2128+5511C>T (n.2128+5511C>T)
n.2143C>T
n.2351C>T
c.1560C>T (p.Gly520=)
c.585C>T (p.Gly195=)
c.1299C>T (p.Gly433=)
n.2095C>T
n.2303C>T
1g.197427468A>CCA422808805CRB1c.2143A>C (p.Arg715=)
c.1024A>C (p.Arg342=)
c.286A>C (p.Arg96=)
c.1807A>C (p.Arg603=)
n.44A>C
c.1936A>C (p.Arg646=)
c.2128+5512A>C (n.2128+5512A>C)
n.2144A>C
n.2352A>C
c.1561A>C (p.Arg521=)
c.586A>C (p.Arg196=)
c.1300A>C (p.Arg434=)
n.2096A>C
n.2304A>C
1g.197427468A>GCA344036336CRB1c.2143A>G (p.Arg715Gly)
c.1024A>G (p.Arg342Gly)
c.286A>G (p.Arg96Gly)
c.1807A>G (p.Arg603Gly)
n.44A>G
c.1936A>G (p.Arg646Gly)
c.2128+5512A>G (n.2128+5512A>G)
n.2144A>G
n.2352A>G
c.1561A>G (p.Arg521Gly)
c.586A>G (p.Arg196Gly)
c.1300A>G (p.Arg434Gly)
n.2096A>G
n.2304A>G
 gnomAD v4
1g.197427468A>TCA344036338CRB1c.2143A>T (p.Arg715Ter)
c.1024A>T (p.Arg342Ter)
c.286A>T (p.Arg96Ter)
c.1807A>T (p.Arg603Ter)
n.44A>T
c.1936A>T (p.Arg646Ter)
c.2128+5512A>T (n.2128+5512A>T)
n.2144A>T
n.2352A>T
c.1561A>T (p.Arg521Ter)
c.586A>T (p.Arg196Ter)
c.1300A>T (p.Arg434Ter)
n.2096A>T
n.2304A>T
1g.197427469G>ACA344036340CRB1c.2144G>A (p.Arg715Lys)
c.1025G>A (p.Arg342Lys)
c.287G>A (p.Arg96Lys)
c.1808G>A (p.Arg603Lys)
n.45G>A
c.1937G>A (p.Arg646Lys)
c.2128+5513G>A (n.2128+5513G>A)
n.2145G>A
n.2353G>A
c.1562G>A (p.Arg521Lys)
c.587G>A (p.Arg196Lys)
c.1301G>A (p.Arg434Lys)
n.2097G>A
n.2305G>A
 gnomAD v4
1g.197427469G>CCA344036343CRB1c.2144G>C (p.Arg715Thr)
c.1025G>C (p.Arg342Thr)
c.287G>C (p.Arg96Thr)
c.1808G>C (p.Arg603Thr)
n.45G>C
c.1937G>C (p.Arg646Thr)
c.2128+5513G>C (n.2128+5513G>C)
n.2145G>C
n.2353G>C
c.1562G>C (p.Arg521Thr)
c.587G>C (p.Arg196Thr)
c.1301G>C (p.Arg434Thr)
n.2097G>C
n.2305G>C
 COSMIC COSMIC
1g.197427469G>TCA344036344CRB1c.2144G>T (p.Arg715Ile)
c.1025G>T (p.Arg342Ile)
c.287G>T (p.Arg96Ile)
c.1808G>T (p.Arg603Ile)
n.45G>T
c.1937G>T (p.Arg646Ile)
c.2128+5513G>T (n.2128+5513G>T)
n.2145G>T
n.2353G>T
c.1562G>T (p.Arg521Ile)
c.587G>T (p.Arg196Ile)
c.1301G>T (p.Arg434Ile)
n.2097G>T
n.2305G>T
1g.197427470A>CCA344036346CRB1c.2145A>C (p.Arg715Ser)
c.1026A>C (p.Arg342Ser)
c.288A>C (p.Arg96Ser)
c.1809A>C (p.Arg603Ser)
n.46A>C
c.1938A>C (p.Arg646Ser)
c.2128+5514A>C (n.2128+5514A>C)
n.2146A>C
n.2354A>C
c.1563A>C (p.Arg521Ser)
c.588A>C (p.Arg196Ser)
c.1302A>C (p.Arg434Ser)
n.2098A>C
n.2306A>C
1g.197427470A>GCA422808807CRB1c.2145A>G (p.Arg715=)
c.1026A>G (p.Arg342=)
c.288A>G (p.Arg96=)
c.1809A>G (p.Arg603=)
n.46A>G
c.1938A>G (p.Arg646=)
c.2128+5514A>G (n.2128+5514A>G)
n.2146A>G
n.2354A>G
c.1563A>G (p.Arg521=)
c.588A>G (p.Arg196=)
c.1302A>G (p.Arg434=)
n.2098A>G
n.2306A>G
1g.197427470A>TCA344036348CRB1c.2145A>T (p.Arg715Ser)
c.1026A>T (p.Arg342Ser)
c.288A>T (p.Arg96Ser)
c.1809A>T (p.Arg603Ser)
n.46A>T
c.1938A>T (p.Arg646Ser)
c.2128+5514A>T (n.2128+5514A>T)
n.2146A>T
n.2354A>T
c.1563A>T (p.Arg521Ser)
c.588A>T (p.Arg196Ser)
c.1302A>T (p.Arg434Ser)
n.2098A>T
n.2306A>T
 gnomAD v4
1g.197427471T>ACA344036350CRB1c.2146T>A (p.Phe716Ile)
c.1027T>A (p.Phe343Ile)
c.289T>A (p.Phe97Ile)
c.1810T>A (p.Phe604Ile)
n.47T>A
c.1939T>A (p.Phe647Ile)
c.2128+5515T>A (n.2128+5515T>A)
n.2147T>A
n.2355T>A
c.1564T>A (p.Phe522Ile)
c.589T>A (p.Phe197Ile)
c.1303T>A (p.Phe435Ile)
n.2099T>A
n.2307T>A
1g.197427471T>CCA344036352CRB1c.2146T>C (p.Phe716Leu)
c.1027T>C (p.Phe343Leu)
c.289T>C (p.Phe97Leu)
c.1810T>C (p.Phe604Leu)
n.47T>C
c.1939T>C (p.Phe647Leu)
c.2128+5515T>C (n.2128+5515T>C)
n.2147T>C
n.2355T>C
c.1564T>C (p.Phe522Leu)
c.589T>C (p.Phe197Leu)
c.1303T>C (p.Phe435Leu)
n.2099T>C
n.2307T>C
1g.197427471T>GCA344036354CRB1c.2146T>G (p.Phe716Val)
c.1027T>G (p.Phe343Val)
c.289T>G (p.Phe97Val)
c.1810T>G (p.Phe604Val)
n.47T>G
c.1939T>G (p.Phe647Val)
c.2128+5515T>G (n.2128+5515T>G)
n.2147T>G
n.2355T>G
c.1564T>G (p.Phe522Val)
c.589T>G (p.Phe197Val)
c.1303T>G (p.Phe435Val)
n.2099T>G
n.2307T>G
1g.197427473delCA2649670111CRB1c.2148del (p.Phe716LeufsTer?)
c.1029del (p.Phe343LeufsTer?)
c.291del (p.Phe97LeufsTer?)
c.1812del (p.Phe604LeufsTer?)
n.49del
c.1941del (p.Phe647LeufsTer?)
c.2128+5517del (n.2128+5517del)
n.2149del
n.2357del
c.1566del (p.Phe522LeufsTer?)
c.591del (p.Phe197LeufsTer?)
c.1305del (p.Phe435LeufsTer?)
n.2101del
n.2309del
 gnomAD v4
1g.197427472T>ACA344036357CRB1c.2147T>A (p.Phe716Tyr)
c.1028T>A (p.Phe343Tyr)
c.290T>A (p.Phe97Tyr)
c.1811T>A (p.Phe604Tyr)
n.48T>A
c.1940T>A (p.Phe647Tyr)
c.2128+5516T>A (n.2128+5516T>A)
n.2148T>A
n.2356T>A
c.1565T>A (p.Phe522Tyr)
c.590T>A (p.Phe197Tyr)
c.1304T>A (p.Phe435Tyr)
n.2100T>A
n.2308T>A
1g.197427472T>CCA344036358CRB1c.2147T>C (p.Phe716Ser)
c.1028T>C (p.Phe343Ser)
c.290T>C (p.Phe97Ser)
c.1811T>C (p.Phe604Ser)
n.48T>C
c.1940T>C (p.Phe647Ser)
c.2128+5516T>C (n.2128+5516T>C)
n.2148T>C
n.2356T>C
c.1565T>C (p.Phe522Ser)
c.590T>C (p.Phe197Ser)
c.1304T>C (p.Phe435Ser)
n.2100T>C
n.2308T>C
1g.197427472T>GCA344036360CRB1c.2147T>G (p.Phe716Cys)
c.1028T>G (p.Phe343Cys)
c.290T>G (p.Phe97Cys)
c.1811T>G (p.Phe604Cys)
n.48T>G
c.1940T>G (p.Phe647Cys)
c.2128+5516T>G (n.2128+5516T>G)
n.2148T>G
n.2356T>G
c.1565T>G (p.Phe522Cys)
c.590T>G (p.Phe197Cys)
c.1304T>G (p.Phe435Cys)
n.2100T>G
n.2308T>G
1g.197427473T>ACA344036363CRB1c.2148T>A (p.Phe716Leu)
c.1029T>A (p.Phe343Leu)
c.291T>A (p.Phe97Leu)
c.1812T>A (p.Phe604Leu)
n.49T>A
c.1941T>A (p.Phe647Leu)
c.2128+5517T>A (n.2128+5517T>A)
n.2149T>A
n.2357T>A
c.1566T>A (p.Phe522Leu)
c.591T>A (p.Phe197Leu)
c.1305T>A (p.Phe435Leu)
n.2101T>A
n.2309T>A
1g.197427473T>CCA422808812CRB1c.2148T>C (p.Phe716=)
c.1029T>C (p.Phe343=)
c.291T>C (p.Phe97=)
c.1812T>C (p.Phe604=)
n.49T>C
c.1941T>C (p.Phe647=)
c.2128+5517T>C (n.2128+5517T>C)
n.2149T>C
n.2357T>C
c.1566T>C (p.Phe522=)
c.591T>C (p.Phe197=)
c.1305T>C (p.Phe435=)
n.2101T>C
n.2309T>C
1g.197427473T>GCA344036362CRB1c.2148T>G (p.Phe716Leu)
c.1029T>G (p.Phe343Leu)
c.291T>G (p.Phe97Leu)
c.1812T>G (p.Phe604Leu)
n.49T>G
c.1941T>G (p.Phe647Leu)
c.2128+5517T>G (n.2128+5517T>G)
n.2149T>G
n.2357T>G
c.1566T>G (p.Phe522Leu)
c.591T>G (p.Phe197Leu)
c.1305T>G (p.Phe435Leu)
n.2101T>G
n.2309T>G
1g.197427474G>ACA344036366CRB1c.2149G>A (p.Gly717Ser)
c.1030G>A (p.Gly344Ser)
c.292G>A (p.Gly98Ser)
c.1813G>A (p.Gly605Ser)
n.50G>A
c.1942G>A (p.Gly648Ser)
c.2128+5518G>A (n.2128+5518G>A)
n.2150G>A
n.2358G>A
c.1567G>A (p.Gly523Ser)
c.592G>A (p.Gly198Ser)
c.1306G>A (p.Gly436Ser)
n.2102G>A
n.2310G>A
1g.197427474G>CCA344036368CRB1c.2149G>C (p.Gly717Arg)
c.1030G>C (p.Gly344Arg)
c.292G>C (p.Gly98Arg)
c.1813G>C (p.Gly605Arg)
n.50G>C
c.1942G>C (p.Gly648Arg)
c.2128+5518G>C (n.2128+5518G>C)
n.2150G>C
n.2358G>C
c.1567G>C (p.Gly523Arg)
c.592G>C (p.Gly198Arg)
c.1306G>C (p.Gly436Arg)
n.2102G>C
n.2310G>C
1g.197427474G>TCA344036371CRB1c.2149G>T (p.Gly717Cys)
c.1030G>T (p.Gly344Cys)
c.292G>T (p.Gly98Cys)
c.1813G>T (p.Gly605Cys)
n.50G>T
c.1942G>T (p.Gly648Cys)
c.2128+5518G>T (n.2128+5518G>T)
n.2150G>T
n.2358G>T
c.1567G>T (p.Gly523Cys)
c.592G>T (p.Gly198Cys)
c.1306G>T (p.Gly436Cys)
n.2102G>T
n.2310G>T
1g.197427475delCA2573131434CRB1c.2150del (p.Gly717AlafsTer?)
c.1031del (p.Gly344AlafsTer?)
c.293del (p.Gly98AlafsTer?)
c.1814del (p.Gly605AlafsTer?)
n.51del
c.1943del (p.Gly648AlafsTer?)
c.2128+5519del (n.2128+5519del)
n.2151del
n.2359del
c.1568del (p.Gly523AlafsTer?)
c.593del (p.Gly198AlafsTer?)
c.1307del (p.Gly436AlafsTer?)
n.2103del
n.2311del
 ClinVar dbSNP
1g.197427475G>ACA344036373CRB1c.2150G>A (p.Gly717Asp)
c.1031G>A (p.Gly344Asp)
c.293G>A (p.Gly98Asp)
c.1814G>A (p.Gly605Asp)
n.51G>A
c.1943G>A (p.Gly648Asp)
c.2128+5519G>A (n.2128+5519G>A)
n.2151G>A
n.2359G>A
c.1568G>A (p.Gly523Asp)
c.593G>A (p.Gly198Asp)
c.1307G>A (p.Gly436Asp)
n.2103G>A
n.2311G>A
 dbSNP
1g.197427475G>CCA344036375CRB1c.2150G>C (p.Gly717Ala)
c.1031G>C (p.Gly344Ala)
c.293G>C (p.Gly98Ala)
c.1814G>C (p.Gly605Ala)
n.51G>C
c.1943G>C (p.Gly648Ala)
c.2128+5519G>C (n.2128+5519G>C)
n.2151G>C
n.2359G>C
c.1568G>C (p.Gly523Ala)
c.593G>C (p.Gly198Ala)
c.1307G>C (p.Gly436Ala)
n.2103G>C
n.2311G>C
1g.197427475G=CA1218065895CRB1c.2150G= (p.Gly717=)
c.1031G= (p.Gly344=)
c.293G= (p.Gly98=)
c.1814G= (p.Gly605=)
n.51G=
c.1943G= (p.Gly648=)
c.2128+5519G= (n.2128+5519G=)
n.2151G=
n.2359G=
c.1568G= (p.Gly523=)
c.593G= (p.Gly198=)
c.1307G= (p.Gly436=)
n.2103G=
n.2311G=
1g.197427475G>TCA344036376CRB1c.2150G>T (p.Gly717Val)
c.1031G>T (p.Gly344Val)
c.293G>T (p.Gly98Val)
c.1814G>T (p.Gly605Val)
n.51G>T
c.1943G>T (p.Gly648Val)
c.2128+5519G>T (n.2128+5519G>T)
n.2151G>T
n.2359G>T
c.1568G>T (p.Gly523Val)
c.593G>T (p.Gly198Val)
c.1307G>T (p.Gly436Val)
n.2103G>T
n.2311G>T
1g.197427476C>ACA422808817CRB1c.2151C>A (p.Gly717=)
c.1032C>A (p.Gly344=)
c.294C>A (p.Gly98=)
c.1815C>A (p.Gly605=)
n.52C>A
c.1944C>A (p.Gly648=)
c.2128+5520C>A (n.2128+5520C>A)
n.2152C>A
n.2360C>A
c.1569C>A (p.Gly523=)
c.594C>A (p.Gly198=)
c.1308C>A (p.Gly436=)
n.2104C>A
n.2312C>A
1g.197427476C>GCA422808818CRB1c.2151C>G (p.Gly717=)
c.1032C>G (p.Gly344=)
c.294C>G (p.Gly98=)
c.1815C>G (p.Gly605=)
n.52C>G
c.1944C>G (p.Gly648=)
c.2128+5520C>G (n.2128+5520C>G)
n.2152C>G
n.2360C>G
c.1569C>G (p.Gly523=)
c.594C>G (p.Gly198=)
c.1308C>G (p.Gly436=)
n.2104C>G
n.2312C>G
1g.197427476C>TCA422808819CRB1c.2151C>T (p.Gly717=)
c.1032C>T (p.Gly344=)
c.294C>T (p.Gly98=)
c.1815C>T (p.Gly605=)
n.52C>T
c.1944C>T (p.Gly648=)
c.2128+5520C>T (n.2128+5520C>T)
n.2152C>T
n.2360C>T
c.1569C>T (p.Gly523=)
c.594C>T (p.Gly198=)
c.1308C>T (p.Gly436=)
n.2104C>T
n.2312C>T
 COSMIC
1g.197427477C>ACA344036378CRB1c.2152C>A (p.Gln718Lys)
c.1033C>A (p.Gln345Lys)
c.295C>A (p.Gln99Lys)
c.1816C>A (p.Gln606Lys)
n.53C>A
c.1945C>A (p.Gln649Lys)
c.2128+5521C>A (n.2128+5521C>A)
n.2153C>A
n.2361C>A
c.1570C>A (p.Gln524Lys)
c.595C>A (p.Gln199Lys)
c.1309C>A (p.Gln437Lys)
n.2105C>A
n.2313C>A
1g.197427477C>GCA344036382CRB1c.2152C>G (p.Gln718Glu)
c.1033C>G (p.Gln345Glu)
c.295C>G (p.Gln99Glu)
c.1816C>G (p.Gln606Glu)
n.53C>G
c.1945C>G (p.Gln649Glu)
c.2128+5521C>G (n.2128+5521C>G)
n.2153C>G
n.2361C>G
c.1570C>G (p.Gln524Glu)
c.595C>G (p.Gln199Glu)
c.1309C>G (p.Gln437Glu)
n.2105C>G
n.2313C>G
1g.197427477C>TCA344036380CRB1c.2152C>T (p.Gln718Ter)
c.1033C>T (p.Gln345Ter)
c.295C>T (p.Gln99Ter)
c.1816C>T (p.Gln606Ter)
n.53C>T
c.1945C>T (p.Gln649Ter)
c.2128+5521C>T (n.2128+5521C>T)
n.2153C>T
n.2361C>T
c.1570C>T (p.Gln524Ter)
c.595C>T (p.Gln199Ter)
c.1309C>T (p.Gln437Ter)
n.2105C>T
n.2313C>T
1g.197427478A>CCA344036383CRB1c.2153A>C (p.Gln718Pro)
c.1034A>C (p.Gln345Pro)
c.296A>C (p.Gln99Pro)
c.1817A>C (p.Gln606Pro)
n.54A>C
c.1946A>C (p.Gln649Pro)
c.2128+5522A>C (n.2128+5522A>C)
n.2154A>C
n.2362A>C
c.1571A>C (p.Gln524Pro)
c.596A>C (p.Gln199Pro)
c.1310A>C (p.Gln437Pro)
n.2106A>C
n.2314A>C
1g.197427478A>GCA344036385CRB1c.2153A>G (p.Gln718Arg)
c.1034A>G (p.Gln345Arg)
c.296A>G (p.Gln99Arg)
c.1817A>G (p.Gln606Arg)
n.54A>G
c.1946A>G (p.Gln649Arg)
c.2128+5522A>G (n.2128+5522A>G)
n.2154A>G
n.2362A>G
c.1571A>G (p.Gln524Arg)
c.596A>G (p.Gln199Arg)
c.1310A>G (p.Gln437Arg)
n.2106A>G
n.2314A>G
1g.197427478A>TCA344036387CRB1c.2153A>T (p.Gln718Leu)
c.1034A>T (p.Gln345Leu)
c.296A>T (p.Gln99Leu)
c.1817A>T (p.Gln606Leu)
n.54A>T
c.1946A>T (p.Gln649Leu)
c.2128+5522A>T (n.2128+5522A>T)
n.2154A>T
n.2362A>T
c.1571A>T (p.Gln524Leu)
c.596A>T (p.Gln199Leu)
c.1310A>T (p.Gln437Leu)
n.2106A>T
n.2314A>T
1g.197427479G>ACA422808826CRB1c.2154G>A (p.Gln718=)
c.1035G>A (p.Gln345=)
c.297G>A (p.Gln99=)
c.1818G>A (p.Gln606=)
n.55G>A
c.1947G>A (p.Gln649=)
c.2128+5523G>A (n.2128+5523G>A)
n.2155G>A
n.2363G>A
c.1572G>A (p.Gln524=)
c.597G>A (p.Gln199=)
c.1311G>A (p.Gln437=)
n.2107G>A
n.2315G>A
1g.197427479G>CCA35900290CRB1c.2154G>C (p.Gln718His)
c.1035G>C (p.Gln345His)
c.297G>C (p.Gln99His)
c.1818G>C (p.Gln606His)
n.55G>C
c.1947G>C (p.Gln649His)
c.2128+5523G>C (n.2128+5523G>C)
n.2155G>C
n.2363G>C
c.1572G>C (p.Gln524His)
c.597G>C (p.Gln199His)
c.1311G>C (p.Gln437His)
n.2107G>C
n.2315G>C
 dbSNP
1g.197427479G=CA1218065897CRB1c.2154G= (p.Gln718=)
c.1035G= (p.Gln345=)
c.297G= (p.Gln99=)
c.1818G= (p.Gln606=)
n.55G=
c.1947G= (p.Gln649=)
c.2128+5523G= (n.2128+5523G=)
n.2155G=
n.2363G=
c.1572G= (p.Gln524=)
c.597G= (p.Gln199=)
c.1311G= (p.Gln437=)
n.2107G=
n.2315G=
1g.197427479G>TCA344036389CRB1c.2154G>T (p.Gln718His)
c.1035G>T (p.Gln345His)
c.297G>T (p.Gln99His)
c.1818G>T (p.Gln606His)
n.55G>T
c.1947G>T (p.Gln649His)
c.2128+5523G>T (n.2128+5523G>T)
n.2155G>T
n.2363G>T
c.1572G>T (p.Gln524His)
c.597G>T (p.Gln199His)
c.1311G>T (p.Gln437His)
n.2107G>T
n.2315G>T
1g.197427480G>ACA344036391CRB1c.2155G>A (p.Asp719Asn)
c.1036G>A (p.Asp346Asn)
c.298G>A (p.Asp100Asn)
c.1819G>A (p.Asp607Asn)
n.56G>A
c.1948G>A (p.Asp650Asn)
c.2128+5524G>A (n.2128+5524G>A)
n.2156G>A
n.2364G>A
c.1573G>A (p.Asp525Asn)
c.598G>A (p.Asp200Asn)
c.1312G>A (p.Asp438Asn)
n.2108G>A
n.2316G>A
 COSMIC
1g.197427480G>CCA344036392CRB1c.2155G>C (p.Asp719His)
c.1036G>C (p.Asp346His)
c.298G>C (p.Asp100His)
c.1819G>C (p.Asp607His)
n.56G>C
c.1948G>C (p.Asp650His)
c.2128+5524G>C (n.2128+5524G>C)
n.2156G>C
n.2364G>C
c.1573G>C (p.Asp525His)
c.598G>C (p.Asp200His)
c.1312G>C (p.Asp438His)
n.2108G>C
n.2316G>C
1g.197427480G>TCA344036395CRB1c.2155G>T (p.Asp719Tyr)
c.1036G>T (p.Asp346Tyr)
c.298G>T (p.Asp100Tyr)
c.1819G>T (p.Asp607Tyr)
n.56G>T
c.1948G>T (p.Asp650Tyr)
c.2128+5524G>T (n.2128+5524G>T)
n.2156G>T
n.2364G>T
c.1573G>T (p.Asp525Tyr)
c.598G>T (p.Asp200Tyr)
c.1312G>T (p.Asp438Tyr)
n.2108G>T
n.2316G>T
1g.197427481A>CCA344036396CRB1c.2156A>C (p.Asp719Ala)
c.1037A>C (p.Asp346Ala)
c.299A>C (p.Asp100Ala)
c.1820A>C (p.Asp607Ala)
n.57A>C
c.1949A>C (p.Asp650Ala)
c.2128+5525A>C (n.2128+5525A>C)
n.2157A>C
n.2365A>C
c.1574A>C (p.Asp525Ala)
c.599A>C (p.Asp200Ala)
c.1313A>C (p.Asp438Ala)
n.2109A>C
n.2317A>C
1g.197427481A>GCA344036398CRB1c.2156A>G (p.Asp719Gly)
c.1037A>G (p.Asp346Gly)
c.299A>G (p.Asp100Gly)
c.1820A>G (p.Asp607Gly)
n.57A>G
c.1949A>G (p.Asp650Gly)
c.2128+5525A>G (n.2128+5525A>G)
n.2157A>G
n.2365A>G
c.1574A>G (p.Asp525Gly)
c.599A>G (p.Asp200Gly)
c.1313A>G (p.Asp438Gly)
n.2109A>G
n.2317A>G
1g.197427481A>TCA344036400CRB1c.2156A>T (p.Asp719Val)
c.1037A>T (p.Asp346Val)
c.299A>T (p.Asp100Val)
c.1820A>T (p.Asp607Val)
n.57A>T
c.1949A>T (p.Asp650Val)
c.2128+5525A>T (n.2128+5525A>T)
n.2157A>T
n.2365A>T
c.1574A>T (p.Asp525Val)
c.599A>T (p.Asp200Val)
c.1313A>T (p.Asp438Val)
n.2109A>T
n.2317A>T
1g.197427482T>ACA344036405CRB1c.2157T>A (p.Asp719Glu)
c.1038T>A (p.Asp346Glu)
c.300T>A (p.Asp100Glu)
c.1821T>A (p.Asp607Glu)
n.58T>A
c.1950T>A (p.Asp650Glu)
c.2128+5526T>A (n.2128+5526T>A)
n.2158T>A
n.2366T>A
c.1575T>A (p.Asp525Glu)
c.600T>A (p.Asp200Glu)
c.1314T>A (p.Asp438Glu)
n.2110T>A
n.2318T>A
1g.197427482T>CCA422808833CRB1c.2157T>C (p.Asp719=)
c.1038T>C (p.Asp346=)
c.300T>C (p.Asp100=)
c.1821T>C (p.Asp607=)
n.58T>C
c.1950T>C (p.Asp650=)
c.2128+5526T>C (n.2128+5526T>C)
n.2158T>C
n.2366T>C
c.1575T>C (p.Asp525=)
c.600T>C (p.Asp200=)
c.1314T>C (p.Asp438=)
n.2110T>C
n.2318T>C
 dbSNP COSMIC COSMIC
1g.197427482T>GCA344036403CRB1c.2157T>G (p.Asp719Glu)
c.1038T>G (p.Asp346Glu)
c.300T>G (p.Asp100Glu)
c.1821T>G (p.Asp607Glu)
n.58T>G
c.1950T>G (p.Asp650Glu)
c.2128+5526T>G (n.2128+5526T>G)
n.2158T>G
n.2366T>G
c.1575T>G (p.Asp525Glu)
c.600T>G (p.Asp200Glu)
c.1314T>G (p.Asp438Glu)
n.2110T>G
n.2318T>G
1g.197427483G>ACA344036407CRB1c.2158G>A (p.Asp720Asn)
c.1039G>A (p.Asp347Asn)
c.301G>A (p.Asp101Asn)
c.1822G>A (p.Asp608Asn)
n.59G>A
c.1951G>A (p.Asp651Asn)
c.2128+5527G>A (n.2128+5527G>A)
n.2159G>A
n.2367G>A
c.1576G>A (p.Asp526Asn)
c.601G>A (p.Asp201Asn)
c.1315G>A (p.Asp439Asn)
n.2111G>A
n.2319G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427483G>CCA344036411CRB1c.2158G>C (p.Asp720His)
c.1039G>C (p.Asp347His)
c.301G>C (p.Asp101His)
c.1822G>C (p.Asp608His)
n.59G>C
c.1951G>C (p.Asp651His)
c.2128+5527G>C (n.2128+5527G>C)
n.2159G>C
n.2367G>C
c.1576G>C (p.Asp526His)
c.601G>C (p.Asp201His)
c.1315G>C (p.Asp439His)
n.2111G>C
n.2319G>C
1g.197427483G=CA1218065901CRB1c.2158G= (p.Asp720=)
c.1039G= (p.Asp347=)
c.301G= (p.Asp101=)
c.1822G= (p.Asp608=)
n.59G=
c.1951G= (p.Asp651=)
c.2128+5527G= (n.2128+5527G=)
n.2159G=
n.2367G=
c.1576G= (p.Asp526=)
c.601G= (p.Asp201=)
c.1315G= (p.Asp439=)
n.2111G=
n.2319G=
1g.197427483G>TCA344036410CRB1c.2158G>T (p.Asp720Tyr)
c.1039G>T (p.Asp347Tyr)
c.301G>T (p.Asp101Tyr)
c.1822G>T (p.Asp608Tyr)
n.59G>T
c.1951G>T (p.Asp651Tyr)
c.2128+5527G>T (n.2128+5527G>T)
n.2159G>T
n.2367G>T
c.1576G>T (p.Asp526Tyr)
c.601G>T (p.Asp201Tyr)
c.1315G>T (p.Asp439Tyr)
n.2111G>T
n.2319G>T
 COSMIC COSMIC
1g.197427484A=CA1218065902CRB1c.2159A= (p.Asp720=)
c.1040A= (p.Asp347=)
c.302A= (p.Asp101=)
c.1823A= (p.Asp608=)
n.60A=
c.1952A= (p.Asp651=)
c.2128+5528A= (n.2128+5528A=)
n.2160A=
n.2368A=
c.1577A= (p.Asp526=)
c.602A= (p.Asp201=)
c.1316A= (p.Asp439=)
n.2112A=
n.2320A=
1g.197427484A>CCA344036414CRB1c.2159A>C (p.Asp720Ala)
c.1040A>C (p.Asp347Ala)
c.302A>C (p.Asp101Ala)
c.1823A>C (p.Asp608Ala)
n.60A>C
c.1952A>C (p.Asp651Ala)
c.2128+5528A>C (n.2128+5528A>C)
n.2160A>C
n.2368A>C
c.1577A>C (p.Asp526Ala)
c.602A>C (p.Asp201Ala)
c.1316A>C (p.Asp439Ala)
n.2112A>C
n.2320A>C
1g.197427484A>GCA344036415CRB1c.2159A>G (p.Asp720Gly)
c.1040A>G (p.Asp347Gly)
c.302A>G (p.Asp101Gly)
c.1823A>G (p.Asp608Gly)
n.60A>G
c.1952A>G (p.Asp651Gly)
c.2128+5528A>G (n.2128+5528A>G)
n.2160A>G
n.2368A>G
c.1577A>G (p.Asp526Gly)
c.602A>G (p.Asp201Gly)
c.1316A>G (p.Asp439Gly)
n.2112A>G
n.2320A>G
 ClinVar
1g.197427484A>TCA1312062CRB1c.2159A>T (p.Asp720Val)
c.1040A>T (p.Asp347Val)
c.302A>T (p.Asp101Val)
c.1823A>T (p.Asp608Val)
n.60A>T
c.1952A>T (p.Asp651Val)
c.2128+5528A>T (n.2128+5528A>T)
n.2160A>T
n.2368A>T
c.1577A>T (p.Asp526Val)
c.602A>T (p.Asp201Val)
c.1316A>T (p.Asp439Val)
n.2112A>T
n.2320A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427485C>ACA344036419CRB1c.2160C>A (p.Asp720Glu)
c.1041C>A (p.Asp347Glu)
c.303C>A (p.Asp101Glu)
c.1824C>A (p.Asp608Glu)
n.61C>A
c.1953C>A (p.Asp651Glu)
c.2128+5529C>A (n.2128+5529C>A)
n.2161C>A
n.2369C>A
c.1578C>A (p.Asp526Glu)
c.603C>A (p.Asp201Glu)
c.1317C>A (p.Asp439Glu)
n.2113C>A
n.2321C>A
1g.197427485C>GCA344036420CRB1c.2160C>G (p.Asp720Glu)
c.1041C>G (p.Asp347Glu)
c.303C>G (p.Asp101Glu)
c.1824C>G (p.Asp608Glu)
n.61C>G
c.1953C>G (p.Asp651Glu)
c.2128+5529C>G (n.2128+5529C>G)
n.2161C>G
n.2369C>G
c.1578C>G (p.Asp526Glu)
c.603C>G (p.Asp201Glu)
c.1317C>G (p.Asp439Glu)
n.2113C>G
n.2321C>G
1g.197427485C>TCA422808840CRB1c.2160C>T (p.Asp720=)
c.1041C>T (p.Asp347=)
c.303C>T (p.Asp101=)
c.1824C>T (p.Asp608=)
n.61C>T
c.1953C>T (p.Asp651=)
c.2128+5529C>T (n.2128+5529C>T)
n.2161C>T
n.2369C>T
c.1578C>T (p.Asp526=)
c.603C>T (p.Asp201=)
c.1317C>T (p.Asp439=)
n.2113C>T
n.2321C>T
 gnomAD v4
1g.197427485_197427486insACA2649670112CRB1c.2160_2161insA (p.Ser721IlefsTer10)
c.1041_1042insA (p.Ser348IlefsTer10)
c.303_304insA (p.Ser102IlefsTer10)
c.1824_1825insA (p.Ser609IlefsTer10)
n.61_62insA
c.1953_1954insA (p.Ser652IlefsTer10)
c.2128+5529_2128+5530insA (n.2128+5529_2128+5530insA)
n.2161_2162insA
n.2369_2370insA
c.1578_1579insA (p.Ser527IlefsTer10)
c.603_604insA (p.Ser202IlefsTer10)
c.1317_1318insA (p.Ser440IlefsTer10)
n.2113_2114insA
n.2321_2322insA
 gnomAD v4
1g.197427486T>ACA344036427CRB1c.2161T>A (p.Ser721Thr)
c.1042T>A (p.Ser348Thr)
c.304T>A (p.Ser102Thr)
c.1825T>A (p.Ser609Thr)
n.62T>A
c.1954T>A (p.Ser652Thr)
c.2128+5530T>A (n.2128+5530T>A)
n.2162T>A
n.2370T>A
c.1579T>A (p.Ser527Thr)
c.604T>A (p.Ser202Thr)
c.1318T>A (p.Ser440Thr)
n.2114T>A
n.2322T>A
1g.197427486T>CCA344036425CRB1c.2161T>C (p.Ser721Pro)
c.1042T>C (p.Ser348Pro)
c.304T>C (p.Ser102Pro)
c.1825T>C (p.Ser609Pro)
n.62T>C
c.1954T>C (p.Ser652Pro)
c.2128+5530T>C (n.2128+5530T>C)
n.2162T>C
n.2370T>C
c.1579T>C (p.Ser527Pro)
c.604T>C (p.Ser202Pro)
c.1318T>C (p.Ser440Pro)
n.2114T>C
n.2322T>C
1g.197427486T>GCA344036423CRB1c.2161T>G (p.Ser721Ala)
c.1042T>G (p.Ser348Ala)
c.304T>G (p.Ser102Ala)
c.1825T>G (p.Ser609Ala)
n.62T>G
c.1954T>G (p.Ser652Ala)
c.2128+5530T>G (n.2128+5530T>G)
n.2162T>G
n.2370T>G
c.1579T>G (p.Ser527Ala)
c.604T>G (p.Ser202Ala)
c.1318T>G (p.Ser440Ala)
n.2114T>G
n.2322T>G
1g.197427486_197427487insAACA2649670113CRB1c.2161_2162insAA (p.Ser721Ter)
c.1042_1043insAA (p.Ser348Ter)
c.304_305insAA (p.Ser102Ter)
c.1825_1826insAA (p.Ser609Ter)
n.62_63insAA
c.1954_1955insAA (p.Ser652Ter)
c.2128+5530_2128+5531insAA (n.2128+5530_2128+5531insAA)
n.2162_2163insAA
n.2370_2371insAA
c.1579_1580insAA (p.Ser527Ter)
c.604_605insAA (p.Ser202Ter)
c.1318_1319insAA (p.Ser440Ter)
n.2114_2115insAA
n.2322_2323insAA
 gnomAD v4
1g.197427487C>ACA344036429CRB1c.2162C>A (p.Ser721Tyr)
c.1043C>A (p.Ser348Tyr)
c.305C>A (p.Ser102Tyr)
c.1826C>A (p.Ser609Tyr)
n.63C>A
c.1955C>A (p.Ser652Tyr)
c.2128+5531C>A (n.2128+5531C>A)
n.2163C>A
n.2371C>A
c.1580C>A (p.Ser527Tyr)
c.605C>A (p.Ser202Tyr)
c.1319C>A (p.Ser440Tyr)
n.2115C>A
n.2323C>A
1g.197427487C>GCA344036431CRB1c.2162C>G (p.Ser721Cys)
c.1043C>G (p.Ser348Cys)
c.305C>G (p.Ser102Cys)
c.1826C>G (p.Ser609Cys)
n.63C>G
c.1955C>G (p.Ser652Cys)
c.2128+5531C>G (n.2128+5531C>G)
n.2163C>G
n.2371C>G
c.1580C>G (p.Ser527Cys)
c.605C>G (p.Ser202Cys)
c.1319C>G (p.Ser440Cys)
n.2115C>G
n.2323C>G
1g.197427487C>TCA344036433CRB1c.2162C>T (p.Ser721Phe)
c.1043C>T (p.Ser348Phe)
c.305C>T (p.Ser102Phe)
c.1826C>T (p.Ser609Phe)
n.63C>T
c.1955C>T (p.Ser652Phe)
c.2128+5531C>T (n.2128+5531C>T)
n.2163C>T
n.2371C>T
c.1580C>T (p.Ser527Phe)
c.605C>T (p.Ser202Phe)
c.1319C>T (p.Ser440Phe)
n.2115C>T
n.2323C>T
 COSMIC
1g.197427488C>ACA422808849CRB1c.2163C>A (p.Ser721=)
c.1044C>A (p.Ser348=)
c.306C>A (p.Ser102=)
c.1827C>A (p.Ser609=)
n.64C>A
c.1956C>A (p.Ser652=)
c.2128+5532C>A (n.2128+5532C>A)
n.2164C>A
n.2372C>A
c.1581C>A (p.Ser527=)
c.606C>A (p.Ser202=)
c.1320C>A (p.Ser440=)
n.2116C>A
n.2324C>A
1g.197427488C>GCA422808845CRB1c.2163C>G (p.Ser721=)
c.1044C>G (p.Ser348=)
c.306C>G (p.Ser102=)
c.1827C>G (p.Ser609=)
n.64C>G
c.1956C>G (p.Ser652=)
c.2128+5532C>G (n.2128+5532C>G)
n.2164C>G
n.2372C>G
c.1581C>G (p.Ser527=)
c.606C>G (p.Ser202=)
c.1320C>G (p.Ser440=)
n.2116C>G
n.2324C>G
1g.197427488C>TCA422808848CRB1c.2163C>T (p.Ser721=)
c.1044C>T (p.Ser348=)
c.306C>T (p.Ser102=)
c.1827C>T (p.Ser609=)
n.64C>T
c.1956C>T (p.Ser652=)
c.2128+5532C>T (n.2128+5532C>T)
n.2164C>T
n.2372C>T
c.1581C>T (p.Ser527=)
c.606C>T (p.Ser202=)
c.1320C>T (p.Ser440=)
n.2116C>T
n.2324C>T
1g.197427489A>CCA344036435CRB1c.2164A>C (p.Thr722Pro)
c.1045A>C (p.Thr349Pro)
c.307A>C (p.Thr103Pro)
c.1828A>C (p.Thr610Pro)
n.65A>C
c.1957A>C (p.Thr653Pro)
c.2128+5533A>C (n.2128+5533A>C)
n.2165A>C
n.2373A>C
c.1582A>C (p.Thr528Pro)
c.607A>C (p.Thr203Pro)
c.1321A>C (p.Thr441Pro)
n.2117A>C
n.2325A>C
1g.197427489A>GCA344036438CRB1c.2164A>G (p.Thr722Ala)
c.1045A>G (p.Thr349Ala)
c.307A>G (p.Thr103Ala)
c.1828A>G (p.Thr610Ala)
n.65A>G
c.1957A>G (p.Thr653Ala)
c.2128+5533A>G (n.2128+5533A>G)
n.2165A>G
n.2373A>G
c.1582A>G (p.Thr528Ala)
c.607A>G (p.Thr203Ala)
c.1321A>G (p.Thr441Ala)
n.2117A>G
n.2325A>G
1g.197427489A>TCA344036440CRB1c.2164A>T (p.Thr722Ser)
c.1045A>T (p.Thr349Ser)
c.307A>T (p.Thr103Ser)
c.1828A>T (p.Thr610Ser)
n.65A>T
c.1957A>T (p.Thr653Ser)
c.2128+5533A>T (n.2128+5533A>T)
n.2165A>T
n.2373A>T
c.1582A>T (p.Thr528Ser)
c.607A>T (p.Thr203Ser)
c.1321A>T (p.Thr441Ser)
n.2117A>T
n.2325A>T
1g.197427490C>ACA344036445CRB1c.2165C>A (p.Thr722Asn)
c.1046C>A (p.Thr349Asn)
c.308C>A (p.Thr103Asn)
c.1829C>A (p.Thr610Asn)
n.66C>A
c.1958C>A (p.Thr653Asn)
c.2128+5534C>A (n.2128+5534C>A)
n.2166C>A
n.2374C>A
c.1583C>A (p.Thr528Asn)
c.608C>A (p.Thr203Asn)
c.1322C>A (p.Thr441Asn)
n.2118C>A
n.2326C>A
1g.197427490C=CA1144035601CRB1c.2165C= (p.Thr722=)
c.1046C= (p.Thr349=)
c.308C= (p.Thr103=)
c.1829C= (p.Thr610=)
n.66C=
c.1958C= (p.Thr653=)
c.2128+5534C= (n.2128+5534C=)
n.2166C=
n.2374C=
c.1583C= (p.Thr528=)
c.608C= (p.Thr203=)
c.1322C= (p.Thr441=)
n.2118C=
n.2326C=
1g.197427490C>GCA344036442CRB1c.2165C>G (p.Thr722Ser)
c.1046C>G (p.Thr349Ser)
c.308C>G (p.Thr103Ser)
c.1829C>G (p.Thr610Ser)
n.66C>G
c.1958C>G (p.Thr653Ser)
c.2128+5534C>G (n.2128+5534C>G)
n.2166C>G
n.2374C>G
c.1583C>G (p.Thr528Ser)
c.608C>G (p.Thr203Ser)
c.1322C>G (p.Thr441Ser)
n.2118C>G
n.2326C>G
 gnomAD v4
1g.197427490C>TCA1312063CRB1c.2165C>T (p.Thr722Ile)
c.1046C>T (p.Thr349Ile)
c.308C>T (p.Thr103Ile)
c.1829C>T (p.Thr610Ile)
n.66C>T
c.1958C>T (p.Thr653Ile)
c.2128+5534C>T (n.2128+5534C>T)
n.2166C>T
n.2374C>T
c.1583C>T (p.Thr528Ile)
c.608C>T (p.Thr203Ile)
c.1322C>T (p.Thr441Ile)
n.2118C>T
n.2326C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427491T>ACA422808857CRB1c.2166T>A (p.Thr722=)
c.1047T>A (p.Thr349=)
c.309T>A (p.Thr103=)
c.1830T>A (p.Thr610=)
n.67T>A
c.1959T>A (p.Thr653=)
c.2128+5535T>A (n.2128+5535T>A)
n.2167T>A
n.2375T>A
c.1584T>A (p.Thr528=)
c.609T>A (p.Thr203=)
c.1323T>A (p.Thr441=)
n.2119T>A
n.2327T>A
1g.197427491T>CCA422808858CRB1c.2166T>C (p.Thr722=)
c.1047T>C (p.Thr349=)
c.309T>C (p.Thr103=)
c.1830T>C (p.Thr610=)
n.67T>C
c.1959T>C (p.Thr653=)
c.2128+5535T>C (n.2128+5535T>C)
n.2167T>C
n.2375T>C
c.1584T>C (p.Thr528=)
c.609T>C (p.Thr203=)
c.1323T>C (p.Thr441=)
n.2119T>C
n.2327T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427491T>GCA422808859CRB1c.2166T>G (p.Thr722=)
c.1047T>G (p.Thr349=)
c.309T>G (p.Thr103=)
c.1830T>G (p.Thr610=)
n.67T>G
c.1959T>G (p.Thr653=)
c.2128+5535T>G (n.2128+5535T>G)
n.2167T>G
n.2375T>G
c.1584T>G (p.Thr528=)
c.609T>G (p.Thr203=)
c.1323T>G (p.Thr441=)
n.2119T>G
n.2327T>G
 dbSNP gnomAD v2
1g.197427491T=CA1218065906CRB1c.2166T= (p.Thr722=)
c.1047T= (p.Thr349=)
c.309T= (p.Thr103=)
c.1830T= (p.Thr610=)
n.67T=
c.1959T= (p.Thr653=)
c.2128+5535T= (n.2128+5535T=)
n.2167T=
n.2375T=
c.1584T= (p.Thr528=)
c.609T= (p.Thr203=)
c.1323T= (p.Thr441=)
n.2119T=
n.2327T=
1g.197427492G>ACA344036449CRB1c.2167G>A (p.Gly723Ser)
c.1048G>A (p.Gly350Ser)
c.310G>A (p.Gly104Ser)
c.1831G>A (p.Gly611Ser)
n.68G>A
c.1960G>A (p.Gly654Ser)
c.2128+5536G>A (n.2128+5536G>A)
n.2168G>A
n.2376G>A
c.1585G>A (p.Gly529Ser)
c.610G>A (p.Gly204Ser)
c.1324G>A (p.Gly442Ser)
n.2120G>A
n.2328G>A
1g.197427492G>CCA344036450CRB1c.2167G>C (p.Gly723Arg)
c.1048G>C (p.Gly350Arg)
c.310G>C (p.Gly104Arg)
c.1831G>C (p.Gly611Arg)
n.68G>C
c.1960G>C (p.Gly654Arg)
c.2128+5536G>C (n.2128+5536G>C)
n.2168G>C
n.2376G>C
c.1585G>C (p.Gly529Arg)
c.610G>C (p.Gly204Arg)
c.1324G>C (p.Gly442Arg)
n.2120G>C
n.2328G>C
 dbSNP
1g.197427492G>TCA344036452CRB1c.2167G>T (p.Gly723Cys)
c.1048G>T (p.Gly350Cys)
c.310G>T (p.Gly104Cys)
c.1831G>T (p.Gly611Cys)
n.68G>T
c.1960G>T (p.Gly654Cys)
c.2128+5536G>T (n.2128+5536G>T)
n.2168G>T
n.2376G>T
c.1585G>T (p.Gly529Cys)
c.610G>T (p.Gly204Cys)
c.1324G>T (p.Gly442Cys)
n.2120G>T
n.2328G>T
1g.197427493G>ACA1312064CRB1c.2168G>A (p.Gly723Asp)
c.1049G>A (p.Gly350Asp)
c.311G>A (p.Gly104Asp)
c.1832G>A (p.Gly611Asp)
n.69G>A
c.1961G>A (p.Gly654Asp)
c.2128+5537G>A (n.2128+5537G>A)
n.2169G>A
n.2377G>A
c.1586G>A (p.Gly529Asp)
c.611G>A (p.Gly204Asp)
c.1325G>A (p.Gly442Asp)
n.2121G>A
n.2329G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427493G>CCA344036455CRB1c.2168G>C (p.Gly723Ala)
c.1049G>C (p.Gly350Ala)
c.311G>C (p.Gly104Ala)
c.1832G>C (p.Gly611Ala)
n.69G>C
c.1961G>C (p.Gly654Ala)
c.2128+5537G>C (n.2128+5537G>C)
n.2169G>C
n.2377G>C
c.1586G>C (p.Gly529Ala)
c.611G>C (p.Gly204Ala)
c.1325G>C (p.Gly442Ala)
n.2121G>C
n.2329G>C
1g.197427493G=CA1218065908CRB1c.2168G= (p.Gly723=)
c.1049G= (p.Gly350=)
c.311G= (p.Gly104=)
c.1832G= (p.Gly611=)
n.69G=
c.1961G= (p.Gly654=)
c.2128+5537G= (n.2128+5537G=)
n.2169G=
n.2377G=
c.1586G= (p.Gly529=)
c.611G= (p.Gly204=)
c.1325G= (p.Gly442=)
n.2121G=
n.2329G=
1g.197427493G>TCA344036456CRB1c.2168G>T (p.Gly723Val)
c.1049G>T (p.Gly350Val)
c.311G>T (p.Gly104Val)
c.1832G>T (p.Gly611Val)
n.69G>T
c.1961G>T (p.Gly654Val)
c.2128+5537G>T (n.2128+5537G>T)
n.2169G>T
n.2377G>T
c.1586G>T (p.Gly529Val)
c.611G>T (p.Gly204Val)
c.1325G>T (p.Gly442Val)
n.2121G>T
n.2329G>T
 ClinVar dbSNP
1g.197427494T>ACA422808865CRB1c.2169T>A (p.Gly723=)
c.1050T>A (p.Gly350=)
c.312T>A (p.Gly104=)
c.1833T>A (p.Gly611=)
n.70T>A
c.1962T>A (p.Gly654=)
c.2128+5538T>A (n.2128+5538T>A)
n.2170T>A
n.2378T>A
c.1587T>A (p.Gly529=)
c.612T>A (p.Gly204=)
c.1326T>A (p.Gly442=)
n.2122T>A
n.2330T>A
1g.197427494T>CCA422808866CRB1c.2169T>C (p.Gly723=)
c.1050T>C (p.Gly350=)
c.312T>C (p.Gly104=)
c.1833T>C (p.Gly611=)
n.70T>C
c.1962T>C (p.Gly654=)
c.2128+5538T>C (n.2128+5538T>C)
n.2170T>C
n.2378T>C
c.1587T>C (p.Gly529=)
c.612T>C (p.Gly204=)
c.1326T>C (p.Gly442=)
n.2122T>C
n.2330T>C
1g.197427494T>GCA422808867CRB1c.2169T>G (p.Gly723=)
c.1050T>G (p.Gly350=)
c.312T>G (p.Gly104=)
c.1833T>G (p.Gly611=)
n.70T>G
c.1962T>G (p.Gly654=)
c.2128+5538T>G (n.2128+5538T>G)
n.2170T>G
n.2378T>G
c.1587T>G (p.Gly529=)
c.612T>G (p.Gly204=)
c.1326T>G (p.Gly442=)
n.2122T>G
n.2330T>G
 dbSNP
1g.197427494T=CA1218065910CRB1c.2169T= (p.Gly723=)
c.1050T= (p.Gly350=)
c.312T= (p.Gly104=)
c.1833T= (p.Gly611=)
n.70T=
c.1962T= (p.Gly654=)
c.2128+5538T= (n.2128+5538T=)
n.2170T=
n.2378T=
c.1587T= (p.Gly529=)
c.612T= (p.Gly204=)
c.1326T= (p.Gly442=)
n.2122T=
n.2330T=
1g.197427495T>ACA344036457CRB1c.2170T>A (p.Tyr724Asn)
c.1051T>A (p.Tyr351Asn)
c.313T>A (p.Tyr105Asn)
c.1834T>A (p.Tyr612Asn)
n.71T>A
c.1963T>A (p.Tyr655Asn)
c.2128+5539T>A (n.2128+5539T>A)
n.2171T>A
n.2379T>A
c.1588T>A (p.Tyr530Asn)
c.613T>A (p.Tyr205Asn)
c.1327T>A (p.Tyr443Asn)
n.2123T>A
n.2331T>A
1g.197427495T>CCA344036458CRB1c.2170T>C (p.Tyr724His)
c.1051T>C (p.Tyr351His)
c.313T>C (p.Tyr105His)
c.1834T>C (p.Tyr612His)
n.71T>C
c.1963T>C (p.Tyr655His)
c.2128+5539T>C (n.2128+5539T>C)
n.2171T>C
n.2379T>C
c.1588T>C (p.Tyr530His)
c.613T>C (p.Tyr205His)
c.1327T>C (p.Tyr443His)
n.2123T>C
n.2331T>C
1g.197427495T>GCA344036459CRB1c.2170T>G (p.Tyr724Asp)
c.1051T>G (p.Tyr351Asp)
c.313T>G (p.Tyr105Asp)
c.1834T>G (p.Tyr612Asp)
n.71T>G
c.1963T>G (p.Tyr655Asp)
c.2128+5539T>G (n.2128+5539T>G)
n.2171T>G
n.2379T>G
c.1588T>G (p.Tyr530Asp)
c.613T>G (p.Tyr205Asp)
c.1327T>G (p.Tyr443Asp)
n.2123T>G
n.2331T>G
1g.197427496_197427497delCA2580061818CRB1c.2171_2172del (p.Tyr724CysfsTer6)
c.1052_1053del (p.Tyr351CysfsTer6)
c.314_315del (p.Tyr105CysfsTer6)
c.1835_1836del (p.Tyr612CysfsTer6)
n.72_73del
c.1964_1965del (p.Tyr655CysfsTer6)
c.2128+5540_2128+5541del (n.2128+5540_2128+5541del)
n.2172_2173del
n.2380_2381del
c.1589_1590del (p.Tyr530CysfsTer6)
c.614_615del (p.Tyr205CysfsTer6)
c.1328_1329del (p.Tyr443CysfsTer6)
n.2124_2125del
n.2332_2333del
 ClinVar
1g.197427496A=CA1218065918CRB1c.2171A= (p.Tyr724=)
c.1052A= (p.Tyr351=)
c.314A= (p.Tyr105=)
c.1835A= (p.Tyr612=)
n.72A=
c.1964A= (p.Tyr655=)
c.2128+5540A= (n.2128+5540A=)
n.2172A=
n.2380A=
c.1589A= (p.Tyr530=)
c.614A= (p.Tyr205=)
c.1328A= (p.Tyr443=)
n.2124A=
n.2332A=
1g.197427496A>CCA344036460CRB1c.2171A>C (p.Tyr724Ser)
c.1052A>C (p.Tyr351Ser)
c.314A>C (p.Tyr105Ser)
c.1835A>C (p.Tyr612Ser)
n.72A>C
c.1964A>C (p.Tyr655Ser)
c.2128+5540A>C (n.2128+5540A>C)
n.2172A>C
n.2380A>C
c.1589A>C (p.Tyr530Ser)
c.614A>C (p.Tyr205Ser)
c.1328A>C (p.Tyr443Ser)
n.2124A>C
n.2332A>C
1g.197427496A>GCA1312065CRB1c.2171A>G (p.Tyr724Cys)
c.1052A>G (p.Tyr351Cys)
c.314A>G (p.Tyr105Cys)
c.1835A>G (p.Tyr612Cys)
n.72A>G
c.1964A>G (p.Tyr655Cys)
c.2128+5540A>G (n.2128+5540A>G)
n.2172A>G
n.2380A>G
c.1589A>G (p.Tyr530Cys)
c.614A>G (p.Tyr205Cys)
c.1328A>G (p.Tyr443Cys)
n.2124A>G
n.2332A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427496A>TCA344036463CRB1c.2171A>T (p.Tyr724Phe)
c.1052A>T (p.Tyr351Phe)
c.314A>T (p.Tyr105Phe)
c.1835A>T (p.Tyr612Phe)
n.72A>T
c.1964A>T (p.Tyr655Phe)
c.2128+5540A>T (n.2128+5540A>T)
n.2172A>T
n.2380A>T
c.1589A>T (p.Tyr530Phe)
c.614A>T (p.Tyr205Phe)
c.1328A>T (p.Tyr443Phe)
n.2124A>T
n.2332A>T
1g.197427497T>ACA344036465CRB1c.2172T>A (p.Tyr724Ter)
c.1053T>A (p.Tyr351Ter)
c.315T>A (p.Tyr105Ter)
c.1836T>A (p.Tyr612Ter)
n.73T>A
c.1965T>A (p.Tyr655Ter)
c.2128+5541T>A (n.2128+5541T>A)
n.2173T>A
n.2381T>A
c.1590T>A (p.Tyr530Ter)
c.615T>A (p.Tyr205Ter)
c.1329T>A (p.Tyr443Ter)
n.2125T>A
n.2333T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197427497T>CCA1312066CRB1c.2172T>C (p.Tyr724=)
c.1053T>C (p.Tyr351=)
c.315T>C (p.Tyr105=)
c.1836T>C (p.Tyr612=)
n.73T>C
c.1965T>C (p.Tyr655=)
c.2128+5541T>C (n.2128+5541T>C)
n.2173T>C
n.2381T>C
c.1590T>C (p.Tyr530=)
c.615T>C (p.Tyr205=)
c.1329T>C (p.Tyr443=)
n.2125T>C
n.2333T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427497T>GCA344036467CRB1c.2172T>G (p.Tyr724Ter)
c.1053T>G (p.Tyr351Ter)
c.315T>G (p.Tyr105Ter)
c.1836T>G (p.Tyr612Ter)
n.73T>G
c.1965T>G (p.Tyr655Ter)
c.2128+5541T>G (n.2128+5541T>G)
n.2173T>G
n.2381T>G
c.1590T>G (p.Tyr530Ter)
c.615T>G (p.Tyr205Ter)
c.1329T>G (p.Tyr443Ter)
n.2125T>G
n.2333T>G
1g.197427497T=CA1218065920CRB1c.2172T= (p.Tyr724=)
c.1053T= (p.Tyr351=)
c.315T= (p.Tyr105=)
c.1836T= (p.Tyr612=)
n.73T=
c.1965T= (p.Tyr655=)
c.2128+5541T= (n.2128+5541T=)
n.2173T=
n.2381T=
c.1590T= (p.Tyr530=)
c.615T= (p.Tyr205=)
c.1329T= (p.Tyr443=)
n.2125T=
n.2333T=
1g.197427498G>ACA35900337CRB1c.2173G>A (p.Val725Ile)
c.1054G>A (p.Val352Ile)
c.316G>A (p.Val106Ile)
c.1837G>A (p.Val613Ile)
n.74G>A
c.1966G>A (p.Val656Ile)
c.2128+5542G>A (n.2128+5542G>A)
n.2174G>A
n.2382G>A
c.1591G>A (p.Val531Ile)
c.616G>A (p.Val206Ile)
c.1330G>A (p.Val444Ile)
n.2126G>A
n.2334G>A
 dbSNP gnomAD v4
1g.197427498G>CCA344036473CRB1c.2173G>C (p.Val725Leu)
c.1054G>C (p.Val352Leu)
c.316G>C (p.Val106Leu)
c.1837G>C (p.Val613Leu)
n.74G>C
c.1966G>C (p.Val656Leu)
c.2128+5542G>C (n.2128+5542G>C)
n.2174G>C
n.2382G>C
c.1591G>C (p.Val531Leu)
c.616G>C (p.Val206Leu)
c.1330G>C (p.Val444Leu)
n.2126G>C
n.2334G>C
1g.197427498G=CA1218065922CRB1c.2173G= (p.Val725=)
c.1054G= (p.Val352=)
c.316G= (p.Val106=)
c.1837G= (p.Val613=)
n.74G=
c.1966G= (p.Val656=)
c.2128+5542G= (n.2128+5542G=)
n.2174G=
n.2382G=
c.1591G= (p.Val531=)
c.616G= (p.Val206=)
c.1330G= (p.Val444=)
n.2126G=
n.2334G=
1g.197427498G>TCA344036474CRB1c.2173G>T (p.Val725Phe)
c.1054G>T (p.Val352Phe)
c.316G>T (p.Val106Phe)
c.1837G>T (p.Val613Phe)
n.74G>T
c.1966G>T (p.Val656Phe)
c.2128+5542G>T (n.2128+5542G>T)
n.2174G>T
n.2382G>T
c.1591G>T (p.Val531Phe)
c.616G>T (p.Val206Phe)
c.1330G>T (p.Val444Phe)
n.2126G>T
n.2334G>T
1g.197427499T>ACA344036477CRB1c.2174T>A (p.Val725Asp)
c.1055T>A (p.Val352Asp)
c.317T>A (p.Val106Asp)
c.1838T>A (p.Val613Asp)
n.75T>A
c.1967T>A (p.Val656Asp)
c.2128+5543T>A (n.2128+5543T>A)
n.2175T>A
n.2383T>A
c.1592T>A (p.Val531Asp)
c.617T>A (p.Val206Asp)
c.1331T>A (p.Val444Asp)
n.2127T>A
n.2335T>A
 ClinVar
1g.197427499T>CCA344036478CRB1c.2174T>C (p.Val725Ala)
c.1055T>C (p.Val352Ala)
c.317T>C (p.Val106Ala)
c.1838T>C (p.Val613Ala)
n.75T>C
c.1967T>C (p.Val656Ala)
c.2128+5543T>C (n.2128+5543T>C)
n.2175T>C
n.2383T>C
c.1592T>C (p.Val531Ala)
c.617T>C (p.Val206Ala)
c.1331T>C (p.Val444Ala)
n.2127T>C
n.2335T>C
 ClinVar dbSNP gnomAD v4
1g.197427499T>GCA344036479CRB1c.2174T>G (p.Val725Gly)
c.1055T>G (p.Val352Gly)
c.317T>G (p.Val106Gly)
c.1838T>G (p.Val613Gly)
n.75T>G
c.1967T>G (p.Val656Gly)
c.2128+5543T>G (n.2128+5543T>G)
n.2175T>G
n.2383T>G
c.1592T>G (p.Val531Gly)
c.617T>G (p.Val206Gly)
c.1331T>G (p.Val444Gly)
n.2127T>G
n.2335T>G
1g.197427499T=CA1218065923CRB1c.2174T= (p.Val725=)
c.1055T= (p.Val352=)
c.317T= (p.Val106=)
c.1838T= (p.Val613=)
n.75T=
c.1967T= (p.Val656=)
c.2128+5543T= (n.2128+5543T=)
n.2175T=
n.2383T=
c.1592T= (p.Val531=)
c.617T= (p.Val206=)
c.1331T= (p.Val444=)
n.2127T=
n.2335T=
1g.197427500C>ACA35900344CRB1c.2175C>A (p.Val725=)
c.1056C>A (p.Val352=)
c.318C>A (p.Val106=)
c.1839C>A (p.Val613=)
n.76C>A
c.1968C>A (p.Val656=)
c.2128+5544C>A (n.2128+5544C>A)
n.2176C>A
n.2384C>A
c.1593C>A (p.Val531=)
c.618C>A (p.Val206=)
c.1332C>A (p.Val444=)
n.2128C>A
n.2336C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197427500C=CA1218065925CRB1c.2175C= (p.Val725=)
c.1056C= (p.Val352=)
c.318C= (p.Val106=)
c.1839C= (p.Val613=)
n.76C=
c.1968C= (p.Val656=)
c.2128+5544C= (n.2128+5544C=)
n.2176C=
n.2384C=
c.1593C= (p.Val531=)
c.618C= (p.Val206=)
c.1332C= (p.Val444=)
n.2128C=
n.2336C=
1g.197427500C>GCA422808877CRB1c.2175C>G (p.Val725=)
c.1056C>G (p.Val352=)
c.318C>G (p.Val106=)
c.1839C>G (p.Val613=)
n.76C>G
c.1968C>G (p.Val656=)
c.2128+5544C>G (n.2128+5544C>G)
n.2176C>G
n.2384C>G
c.1593C>G (p.Val531=)
c.618C>G (p.Val206=)
c.1332C>G (p.Val444=)
n.2128C>G
n.2336C>G
1g.197427500C>TCA35900356CRB1c.2175C>T (p.Val725=)
c.1056C>T (p.Val352=)
c.318C>T (p.Val106=)
c.1839C>T (p.Val613=)
n.76C>T
c.1968C>T (p.Val656=)
c.2128+5544C>T (n.2128+5544C>T)
n.2176C>T
n.2384C>T
c.1593C>T (p.Val531=)
c.618C>T (p.Val206=)
c.1332C>T (p.Val444=)
n.2128C>T
n.2336C>T
 dbSNP gnomAD v3 gnomAD v4
1g.197427501A>CCA344036482CRB1c.2176A>C (p.Ile726Leu)
c.1057A>C (p.Ile353Leu)
c.319A>C (p.Ile107Leu)
c.1840A>C (p.Ile614Leu)
n.77A>C
c.1969A>C (p.Ile657Leu)
c.2128+5545A>C (n.2128+5545A>C)
n.2177A>C
n.2385A>C
c.1594A>C (p.Ile532Leu)
c.619A>C (p.Ile207Leu)
c.1333A>C (p.Ile445Leu)
n.2129A>C
n.2337A>C
1g.197427501A>GCA344036484CRB1c.2176A>G (p.Ile726Val)
c.1057A>G (p.Ile353Val)
c.319A>G (p.Ile107Val)
c.1840A>G (p.Ile614Val)
n.77A>G
c.1969A>G (p.Ile657Val)
c.2128+5545A>G (n.2128+5545A>G)
n.2177A>G
n.2385A>G
c.1594A>G (p.Ile532Val)
c.619A>G (p.Ile207Val)
c.1333A>G (p.Ile445Val)
n.2129A>G
n.2337A>G
1g.197427501A>TCA344036485CRB1c.2176A>T (p.Ile726Phe)
c.1057A>T (p.Ile353Phe)
c.319A>T (p.Ile107Phe)
c.1840A>T (p.Ile614Phe)
n.77A>T
c.1969A>T (p.Ile657Phe)
c.2128+5545A>T (n.2128+5545A>T)
n.2177A>T
n.2385A>T
c.1594A>T (p.Ile532Phe)
c.619A>T (p.Ile207Phe)
c.1333A>T (p.Ile445Phe)
n.2129A>T
n.2337A>T
1g.197427502T>ACA344036488CRB1c.2177T>A (p.Ile726Asn)
c.1058T>A (p.Ile353Asn)
c.320T>A (p.Ile107Asn)
c.1841T>A (p.Ile614Asn)
n.78T>A
c.1970T>A (p.Ile657Asn)
c.2128+5546T>A (n.2128+5546T>A)
n.2178T>A
n.2386T>A
c.1595T>A (p.Ile532Asn)
c.620T>A (p.Ile207Asn)
c.1334T>A (p.Ile445Asn)
n.2130T>A
n.2338T>A
1g.197427502T>CCA344036490CRB1c.2177T>C (p.Ile726Thr)
c.1058T>C (p.Ile353Thr)
c.320T>C (p.Ile107Thr)
c.1841T>C (p.Ile614Thr)
n.78T>C
c.1970T>C (p.Ile657Thr)
c.2128+5546T>C (n.2128+5546T>C)
n.2178T>C
n.2386T>C
c.1595T>C (p.Ile532Thr)
c.620T>C (p.Ile207Thr)
c.1334T>C (p.Ile445Thr)
n.2130T>C
n.2338T>C
 gnomAD v4
1g.197427502T>GCA344036492CRB1c.2177T>G (p.Ile726Ser)
c.1058T>G (p.Ile353Ser)
c.320T>G (p.Ile107Ser)
c.1841T>G (p.Ile614Ser)
n.78T>G
c.1970T>G (p.Ile657Ser)
c.2128+5546T>G (n.2128+5546T>G)
n.2178T>G
n.2386T>G
c.1595T>G (p.Ile532Ser)
c.620T>G (p.Ile207Ser)
c.1334T>G (p.Ile445Ser)
n.2130T>G
n.2338T>G
1g.197427503C>ACA422808884CRB1c.2178C>A (p.Ile726=)
c.1059C>A (p.Ile353=)
c.321C>A (p.Ile107=)
c.1842C>A (p.Ile614=)
n.79C>A
c.1971C>A (p.Ile657=)
c.2128+5547C>A (n.2128+5547C>A)
n.2179C>A
n.2387C>A
c.1596C>A (p.Ile532=)
c.621C>A (p.Ile207=)
c.1335C>A (p.Ile445=)
n.2131C>A
n.2339C>A
 ClinVar gnomAD v4
1g.197427503C>GCA344036494CRB1c.2178C>G (p.Ile726Met)
c.1059C>G (p.Ile353Met)
c.321C>G (p.Ile107Met)
c.1842C>G (p.Ile614Met)
n.79C>G
c.1971C>G (p.Ile657Met)
c.2128+5547C>G (n.2128+5547C>G)
n.2179C>G
n.2387C>G
c.1596C>G (p.Ile532Met)
c.621C>G (p.Ile207Met)
c.1335C>G (p.Ile445Met)
n.2131C>G
n.2339C>G
1g.197427503C>TCA422808885CRB1c.2178C>T (p.Ile726=)
c.1059C>T (p.Ile353=)
c.321C>T (p.Ile107=)
c.1842C>T (p.Ile614=)
n.79C>T
c.1971C>T (p.Ile657=)
c.2128+5547C>T (n.2128+5547C>T)
n.2179C>T
n.2387C>T
c.1596C>T (p.Ile532=)
c.621C>T (p.Ile207=)
c.1335C>T (p.Ile445=)
n.2131C>T
n.2339C>T
1g.197427504T>ACA344036497CRB1c.2179T>A (p.Phe727Ile)
c.1060T>A (p.Phe354Ile)
c.322T>A (p.Phe108Ile)
c.1843T>A (p.Phe615Ile)
n.80T>A
c.1972T>A (p.Phe658Ile)
c.2128+5548T>A (n.2128+5548T>A)
n.2180T>A
n.2388T>A
c.1597T>A (p.Phe533Ile)
c.622T>A (p.Phe208Ile)
c.1336T>A (p.Phe446Ile)
n.2132T>A
n.2340T>A
1g.197427504T>CCA1312067CRB1c.2179T>C (p.Phe727Leu)
c.1060T>C (p.Phe354Leu)
c.322T>C (p.Phe108Leu)
c.1843T>C (p.Phe615Leu)
n.80T>C
c.1972T>C (p.Phe658Leu)
c.2128+5548T>C (n.2128+5548T>C)
n.2180T>C
n.2388T>C
c.1597T>C (p.Phe533Leu)
c.622T>C (p.Phe208Leu)
c.1336T>C (p.Phe446Leu)
n.2132T>C
n.2340T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427504T>GCA344036499CRB1c.2179T>G (p.Phe727Val)
c.1060T>G (p.Phe354Val)
c.322T>G (p.Phe108Val)
c.1843T>G (p.Phe615Val)
n.80T>G
c.1972T>G (p.Phe658Val)
c.2128+5548T>G (n.2128+5548T>G)
n.2180T>G
n.2388T>G
c.1597T>G (p.Phe533Val)
c.622T>G (p.Phe208Val)
c.1336T>G (p.Phe446Val)
n.2132T>G
n.2340T>G
1g.197427504T=CA1218065927CRB1c.2179T= (p.Phe727=)
c.1060T= (p.Phe354=)
c.322T= (p.Phe108=)
c.1843T= (p.Phe615=)
n.80T=
c.1972T= (p.Phe658=)
c.2128+5548T= (n.2128+5548T=)
n.2180T=
n.2388T=
c.1597T= (p.Phe533=)
c.622T= (p.Phe208=)
c.1336T= (p.Phe446=)
n.2132T=
n.2340T=
1g.197427505T>ACA344036502CRB1c.2180T>A (p.Phe727Tyr)
c.1061T>A (p.Phe354Tyr)
c.323T>A (p.Phe108Tyr)
c.1844T>A (p.Phe615Tyr)
n.81T>A
c.1973T>A (p.Phe658Tyr)
c.2128+5549T>A (n.2128+5549T>A)
n.2181T>A
n.2389T>A
c.1598T>A (p.Phe533Tyr)
c.623T>A (p.Phe208Tyr)
c.1337T>A (p.Phe446Tyr)
n.2133T>A
n.2341T>A
1g.197427505T>CCA344036504CRB1c.2180T>C (p.Phe727Ser)
c.1061T>C (p.Phe354Ser)
c.323T>C (p.Phe108Ser)
c.1844T>C (p.Phe615Ser)
n.81T>C
c.1973T>C (p.Phe658Ser)
c.2128+5549T>C (n.2128+5549T>C)
n.2181T>C
n.2389T>C
c.1598T>C (p.Phe533Ser)
c.623T>C (p.Phe208Ser)
c.1337T>C (p.Phe446Ser)
n.2133T>C
n.2341T>C
1g.197427505T>GCA344036506CRB1c.2180T>G (p.Phe727Cys)
c.1061T>G (p.Phe354Cys)
c.323T>G (p.Phe108Cys)
c.1844T>G (p.Phe615Cys)
n.81T>G
c.1973T>G (p.Phe658Cys)
c.2128+5549T>G (n.2128+5549T>G)
n.2181T>G
n.2389T>G
c.1598T>G (p.Phe533Cys)
c.623T>G (p.Phe208Cys)
c.1337T>G (p.Phe446Cys)
n.2133T>G
n.2341T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427505T=CA1218065929CRB1c.2180T= (p.Phe727=)
c.1061T= (p.Phe354=)
c.323T= (p.Phe108=)
c.1844T= (p.Phe615=)
n.81T=
c.1973T= (p.Phe658=)
c.2128+5549T= (n.2128+5549T=)
n.2181T=
n.2389T=
c.1598T= (p.Phe533=)
c.623T= (p.Phe208=)
c.1337T= (p.Phe446=)
n.2133T=
n.2341T=
1g.197427506T>ACA344036507CRB1c.2181T>A (p.Phe727Leu)
c.1062T>A (p.Phe354Leu)
c.324T>A (p.Phe108Leu)
c.1845T>A (p.Phe615Leu)
n.82T>A
c.1974T>A (p.Phe658Leu)
c.2128+5550T>A (n.2128+5550T>A)
n.2182T>A
n.2390T>A
c.1599T>A (p.Phe533Leu)
c.624T>A (p.Phe208Leu)
c.1338T>A (p.Phe446Leu)
n.2134T>A
n.2342T>A
1g.197427506T>CCA422808891CRB1c.2181T>C (p.Phe727=)
c.1062T>C (p.Phe354=)
c.324T>C (p.Phe108=)
c.1845T>C (p.Phe615=)
n.82T>C
c.1974T>C (p.Phe658=)
c.2128+5550T>C (n.2128+5550T>C)
n.2182T>C
n.2390T>C
c.1599T>C (p.Phe533=)
c.624T>C (p.Phe208=)
c.1338T>C (p.Phe446=)
n.2134T>C
n.2342T>C
1g.197427506T>GCA344036509CRB1c.2181T>G (p.Phe727Leu)
c.1062T>G (p.Phe354Leu)
c.324T>G (p.Phe108Leu)
c.1845T>G (p.Phe615Leu)
n.82T>G
c.1974T>G (p.Phe658Leu)
c.2128+5550T>G (n.2128+5550T>G)
n.2182T>G
n.2390T>G
c.1599T>G (p.Phe533Leu)
c.624T>G (p.Phe208Leu)
c.1338T>G (p.Phe446Leu)
n.2134T>G
n.2342T>G
1g.197427507A>CCA344036511CRB1c.2182A>C (p.Thr728Pro)
c.1063A>C (p.Thr355Pro)
c.325A>C (p.Thr109Pro)
c.1846A>C (p.Thr616Pro)
n.83A>C
c.1975A>C (p.Thr659Pro)
c.2128+5551A>C (n.2128+5551A>C)
n.2183A>C
n.2391A>C
c.1600A>C (p.Thr534Pro)
c.625A>C (p.Thr209Pro)
c.1339A>C (p.Thr447Pro)
n.2135A>C
n.2343A>C
1g.197427507A>GCA344036512CRB1c.2182A>G (p.Thr728Ala)
c.1063A>G (p.Thr355Ala)
c.325A>G (p.Thr109Ala)
c.1846A>G (p.Thr616Ala)
n.83A>G
c.1975A>G (p.Thr659Ala)
c.2128+5551A>G (n.2128+5551A>G)
n.2183A>G
n.2391A>G
c.1600A>G (p.Thr534Ala)
c.625A>G (p.Thr209Ala)
c.1339A>G (p.Thr447Ala)
n.2135A>G
n.2343A>G
 gnomAD v4
1g.197427507A>TCA344036514CRB1c.2182A>T (p.Thr728Ser)
c.1063A>T (p.Thr355Ser)
c.325A>T (p.Thr109Ser)
c.1846A>T (p.Thr616Ser)
n.83A>T
c.1975A>T (p.Thr659Ser)
c.2128+5551A>T (n.2128+5551A>T)
n.2183A>T
n.2391A>T
c.1600A>T (p.Thr534Ser)
c.625A>T (p.Thr209Ser)
c.1339A>T (p.Thr447Ser)
n.2135A>T
n.2343A>T
1g.197427508C>ACA344036517CRB1c.2183C>A (p.Thr728Asn)
c.1064C>A (p.Thr355Asn)
c.326C>A (p.Thr109Asn)
c.1847C>A (p.Thr616Asn)
n.84C>A
c.1976C>A (p.Thr659Asn)
c.2128+5552C>A (n.2128+5552C>A)
n.2184C>A
n.2392C>A
c.1601C>A (p.Thr534Asn)
c.626C>A (p.Thr209Asn)
c.1340C>A (p.Thr447Asn)
n.2136C>A
n.2344C>A
1g.197427508C>GCA344036519CRB1c.2183C>G (p.Thr728Ser)
c.1064C>G (p.Thr355Ser)
c.326C>G (p.Thr109Ser)
c.1847C>G (p.Thr616Ser)
n.84C>G
c.1976C>G (p.Thr659Ser)
c.2128+5552C>G (n.2128+5552C>G)
n.2184C>G
n.2392C>G
c.1601C>G (p.Thr534Ser)
c.626C>G (p.Thr209Ser)
c.1340C>G (p.Thr447Ser)
n.2136C>G
n.2344C>G
1g.197427508C>TCA344036520CRB1c.2183C>T (p.Thr728Ile)
c.1064C>T (p.Thr355Ile)
c.326C>T (p.Thr109Ile)
c.1847C>T (p.Thr616Ile)
n.84C>T
c.1976C>T (p.Thr659Ile)
c.2128+5552C>T (n.2128+5552C>T)
n.2184C>T
n.2392C>T
c.1601C>T (p.Thr534Ile)
c.626C>T (p.Thr209Ile)
c.1340C>T (p.Thr447Ile)
n.2136C>T
n.2344C>T
1g.197427509T>ACA1312068CRB1c.2184T>A (p.Thr728=)
c.1065T>A (p.Thr355=)
c.327T>A (p.Thr109=)
c.1848T>A (p.Thr616=)
n.85T>A
c.1977T>A (p.Thr659=)
c.2128+5553T>A (n.2128+5553T>A)
n.2185T>A
n.2393T>A
c.1602T>A (p.Thr534=)
c.627T>A (p.Thr209=)
c.1341T>A (p.Thr447=)
n.2137T>A
n.2345T>A
 ClinVar dbSNP ExAC
1g.197427509T>CCA422808897CRB1c.2184T>C (p.Thr728=)
c.1065T>C (p.Thr355=)
c.327T>C (p.Thr109=)
c.1848T>C (p.Thr616=)
n.85T>C
c.1977T>C (p.Thr659=)
c.2128+5553T>C (n.2128+5553T>C)
n.2185T>C
n.2393T>C
c.1602T>C (p.Thr534=)
c.627T>C (p.Thr209=)
c.1341T>C (p.Thr447=)
n.2137T>C
n.2345T>C
1g.197427509T>GCA422808896CRB1c.2184T>G (p.Thr728=)
c.1065T>G (p.Thr355=)
c.327T>G (p.Thr109=)
c.1848T>G (p.Thr616=)
n.85T>G
c.1977T>G (p.Thr659=)
c.2128+5553T>G (n.2128+5553T>G)
n.2185T>G
n.2393T>G
c.1602T>G (p.Thr534=)
c.627T>G (p.Thr209=)
c.1341T>G (p.Thr447=)
n.2137T>G
n.2345T>G
1g.197427509T=CA1218065931CRB1c.2184T= (p.Thr728=)
c.1065T= (p.Thr355=)
c.327T= (p.Thr109=)
c.1848T= (p.Thr616=)
n.85T=
c.1977T= (p.Thr659=)
c.2128+5553T= (n.2128+5553T=)
n.2185T=
n.2393T=
c.1602T= (p.Thr534=)
c.627T= (p.Thr209=)
c.1341T= (p.Thr447=)
n.2137T=
n.2345T=
1g.197427510C>ACA344036526CRB1c.2185C>A (p.Leu729Ile)
c.1066C>A (p.Leu356Ile)
c.328C>A (p.Leu110Ile)
c.1849C>A (p.Leu617Ile)
n.86C>A
c.1978C>A (p.Leu660Ile)
c.2128+5554C>A (n.2128+5554C>A)
n.2186C>A
n.2394C>A
c.1603C>A (p.Leu535Ile)
c.628C>A (p.Leu210Ile)
c.1342C>A (p.Leu448Ile)
n.2138C>A
n.2346C>A
1g.197427510C>GCA344036525CRB1c.2185C>G (p.Leu729Val)
c.1066C>G (p.Leu356Val)
c.328C>G (p.Leu110Val)
c.1849C>G (p.Leu617Val)
n.86C>G
c.1978C>G (p.Leu660Val)
c.2128+5554C>G (n.2128+5554C>G)
n.2186C>G
n.2394C>G
c.1603C>G (p.Leu535Val)
c.628C>G (p.Leu210Val)
c.1342C>G (p.Leu448Val)
n.2138C>G
n.2346C>G
1g.197427510C>TCA344036527CRB1c.2185C>T (p.Leu729Phe)
c.1066C>T (p.Leu356Phe)
c.328C>T (p.Leu110Phe)
c.1849C>T (p.Leu617Phe)
n.86C>T
c.1978C>T (p.Leu660Phe)
c.2128+5554C>T (n.2128+5554C>T)
n.2186C>T
n.2394C>T
c.1603C>T (p.Leu535Phe)
c.628C>T (p.Leu210Phe)
c.1342C>T (p.Leu448Phe)
n.2138C>T
n.2346C>T
1g.197427511T>ACA344036530CRB1c.2186T>A (p.Leu729His)
c.1067T>A (p.Leu356His)
c.329T>A (p.Leu110His)
c.1850T>A (p.Leu617His)
n.87T>A
c.1979T>A (p.Leu660His)
c.2128+5555T>A (n.2128+5555T>A)
n.2187T>A
n.2395T>A
c.1604T>A (p.Leu535His)
c.629T>A (p.Leu210His)
c.1343T>A (p.Leu448His)
n.2139T>A
n.2347T>A
1g.197427511T>CCA344036532CRB1c.2186T>C (p.Leu729Pro)
c.1067T>C (p.Leu356Pro)
c.329T>C (p.Leu110Pro)
c.1850T>C (p.Leu617Pro)
n.87T>C
c.1979T>C (p.Leu660Pro)
c.2128+5555T>C (n.2128+5555T>C)
n.2187T>C
n.2395T>C
c.1604T>C (p.Leu535Pro)
c.629T>C (p.Leu210Pro)
c.1343T>C (p.Leu448Pro)
n.2139T>C
n.2347T>C
1g.197427511T>GCA344036533CRB1c.2186T>G (p.Leu729Arg)
c.1067T>G (p.Leu356Arg)
c.329T>G (p.Leu110Arg)
c.1850T>G (p.Leu617Arg)
n.87T>G
c.1979T>G (p.Leu660Arg)
c.2128+5555T>G (n.2128+5555T>G)
n.2187T>G
n.2395T>G
c.1604T>G (p.Leu535Arg)
c.629T>G (p.Leu210Arg)
c.1343T>G (p.Leu448Arg)
n.2139T>G
n.2347T>G
1g.197427512T>ACA422808902CRB1c.2187T>A (p.Leu729=)
c.1068T>A (p.Leu356=)
c.330T>A (p.Leu110=)
c.1851T>A (p.Leu617=)
n.88T>A
c.1980T>A (p.Leu660=)
c.2128+5556T>A (n.2128+5556T>A)
n.2188T>A
n.2396T>A
c.1605T>A (p.Leu535=)
c.630T>A (p.Leu210=)
c.1344T>A (p.Leu448=)
n.2140T>A
n.2348T>A
1g.197427512T>CCA422808903CRB1c.2187T>C (p.Leu729=)
c.1068T>C (p.Leu356=)
c.330T>C (p.Leu110=)
c.1851T>C (p.Leu617=)
n.88T>C
c.1980T>C (p.Leu660=)
c.2128+5556T>C (n.2128+5556T>C)
n.2188T>C
n.2396T>C
c.1605T>C (p.Leu535=)
c.630T>C (p.Leu210=)
c.1344T>C (p.Leu448=)
n.2140T>C
n.2348T>C
 ClinVar dbSNP gnomAD v4
1g.197427512T>GCA422808904CRB1c.2187T>G (p.Leu729=)
c.1068T>G (p.Leu356=)
c.330T>G (p.Leu110=)
c.1851T>G (p.Leu617=)
n.88T>G
c.1980T>G (p.Leu660=)
c.2128+5556T>G (n.2128+5556T>G)
n.2188T>G
n.2396T>G
c.1605T>G (p.Leu535=)
c.630T>G (p.Leu210=)
c.1344T>G (p.Leu448=)
n.2140T>G
n.2348T>G
1g.197427512T=CA1218065933CRB1c.2187T= (p.Leu729=)
c.1068T= (p.Leu356=)
c.330T= (p.Leu110=)
c.1851T= (p.Leu617=)
n.88T=
c.1980T= (p.Leu660=)
c.2128+5556T= (n.2128+5556T=)
n.2188T=
n.2396T=
c.1605T= (p.Leu535=)
c.630T= (p.Leu210=)
c.1344T= (p.Leu448=)
n.2140T=
n.2348T=
1g.197427513G>ACA344036535CRB1c.2188G>A (p.Asp730Asn)
c.1069G>A (p.Asp357Asn)
c.331G>A (p.Asp111Asn)
c.1852G>A (p.Asp618Asn)
n.89G>A
c.1981G>A (p.Asp661Asn)
c.2128+5557G>A (n.2128+5557G>A)
n.2189G>A
n.2397G>A
c.1606G>A (p.Asp536Asn)
c.631G>A (p.Asp211Asn)
c.1345G>A (p.Asp449Asn)
n.2141G>A
n.2349G>A
 COSMIC
1g.197427513G>CCA344036538CRB1c.2188G>C (p.Asp730His)
c.1069G>C (p.Asp357His)
c.331G>C (p.Asp111His)
c.1852G>C (p.Asp618His)
n.89G>C
c.1981G>C (p.Asp661His)
c.2128+5557G>C (n.2128+5557G>C)
n.2189G>C
n.2397G>C
c.1606G>C (p.Asp536His)
c.631G>C (p.Asp211His)
c.1345G>C (p.Asp449His)
n.2141G>C
n.2349G>C
1g.197427513G>TCA344036540CRB1c.2188G>T (p.Asp730Tyr)
c.1069G>T (p.Asp357Tyr)
c.331G>T (p.Asp111Tyr)
c.1852G>T (p.Asp618Tyr)
n.89G>T
c.1981G>T (p.Asp661Tyr)
c.2128+5557G>T (n.2128+5557G>T)
n.2189G>T
n.2397G>T
c.1606G>T (p.Asp536Tyr)
c.631G>T (p.Asp211Tyr)
c.1345G>T (p.Asp449Tyr)
n.2141G>T
n.2349G>T
1g.197427514A>CCA344036545CRB1c.2189A>C (p.Asp730Ala)
c.1070A>C (p.Asp357Ala)
c.332A>C (p.Asp111Ala)
c.1853A>C (p.Asp618Ala)
n.90A>C
c.1982A>C (p.Asp661Ala)
c.2128+5558A>C (n.2128+5558A>C)
n.2190A>C
n.2398A>C
c.1607A>C (p.Asp536Ala)
c.632A>C (p.Asp211Ala)
c.1346A>C (p.Asp449Ala)
n.2142A>C
n.2350A>C
1g.197427514A>GCA344036542CRB1c.2189A>G (p.Asp730Gly)
c.1070A>G (p.Asp357Gly)
c.332A>G (p.Asp111Gly)
c.1853A>G (p.Asp618Gly)
n.90A>G
c.1982A>G (p.Asp661Gly)
c.2128+5558A>G (n.2128+5558A>G)
n.2190A>G
n.2398A>G
c.1607A>G (p.Asp536Gly)
c.632A>G (p.Asp211Gly)
c.1346A>G (p.Asp449Gly)
n.2142A>G
n.2350A>G
 gnomAD v4
1g.197427514A>TCA344036543CRB1c.2189A>T (p.Asp730Val)
c.1070A>T (p.Asp357Val)
c.332A>T (p.Asp111Val)
c.1853A>T (p.Asp618Val)
n.90A>T
c.1982A>T (p.Asp661Val)
c.2128+5558A>T (n.2128+5558A>T)
n.2190A>T
n.2398A>T
c.1607A>T (p.Asp536Val)
c.632A>T (p.Asp211Val)
c.1346A>T (p.Asp449Val)
n.2142A>T
n.2350A>T
1g.197427515T>ACA1312069CRB1c.2190T>A (p.Asp730Glu)
c.1071T>A (p.Asp357Glu)
c.333T>A (p.Asp111Glu)
c.1854T>A (p.Asp618Glu)
n.91T>A
c.1983T>A (p.Asp661Glu)
c.2128+5559T>A (n.2128+5559T>A)
n.2191T>A
n.2399T>A
c.1608T>A (p.Asp536Glu)
c.633T>A (p.Asp211Glu)
c.1347T>A (p.Asp449Glu)
n.2143T>A
n.2351T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427515T>CCA422808906CRB1c.2190T>C (p.Asp730=)
c.1071T>C (p.Asp357=)
c.333T>C (p.Asp111=)
c.1854T>C (p.Asp618=)
n.91T>C
c.1983T>C (p.Asp661=)
c.2128+5559T>C (n.2128+5559T>C)
n.2191T>C
n.2399T>C
c.1608T>C (p.Asp536=)
c.633T>C (p.Asp211=)
c.1347T>C (p.Asp449=)
n.2143T>C
n.2351T>C
 ClinVar
1g.197427515T>GCA344036548CRB1c.2190T>G (p.Asp730Glu)
c.1071T>G (p.Asp357Glu)
c.333T>G (p.Asp111Glu)
c.1854T>G (p.Asp618Glu)
n.91T>G
c.1983T>G (p.Asp661Glu)
c.2128+5559T>G (n.2128+5559T>G)
n.2191T>G
n.2399T>G
c.1608T>G (p.Asp536Glu)
c.633T>G (p.Asp211Glu)
c.1347T>G (p.Asp449Glu)
n.2143T>G
n.2351T>G
1g.197427515T=CA1218065935CRB1c.2190T= (p.Asp730=)
c.1071T= (p.Asp357=)
c.333T= (p.Asp111=)
c.1854T= (p.Asp618=)
n.91T=
c.1983T= (p.Asp661=)
c.2128+5559T= (n.2128+5559T=)
n.2191T=
n.2399T=
c.1608T= (p.Asp536=)
c.633T= (p.Asp211=)
c.1347T= (p.Asp449=)
n.2143T=
n.2351T=
1g.197427516G>ACA344036551CRB1c.2191G>A (p.Glu731Lys)
c.1072G>A (p.Glu358Lys)
c.334G>A (p.Glu112Lys)
c.1855G>A (p.Glu619Lys)
n.92G>A
c.1984G>A (p.Glu662Lys)
c.2128+5560G>A (n.2128+5560G>A)
n.2192G>A
n.2400G>A
c.1609G>A (p.Glu537Lys)
c.634G>A (p.Glu212Lys)
c.1348G>A (p.Glu450Lys)
n.2144G>A
n.2352G>A
1g.197427516G>CCA344036553CRB1c.2191G>C (p.Glu731Gln)
c.1072G>C (p.Glu358Gln)
c.334G>C (p.Glu112Gln)
c.1855G>C (p.Glu619Gln)
n.92G>C
c.1984G>C (p.Glu662Gln)
c.2128+5560G>C (n.2128+5560G>C)
n.2192G>C
n.2400G>C
c.1609G>C (p.Glu537Gln)
c.634G>C (p.Glu212Gln)
c.1348G>C (p.Glu450Gln)
n.2144G>C
n.2352G>C
1g.197427516G>TCA344036555CRB1c.2191G>T (p.Glu731Ter)
c.1072G>T (p.Glu358Ter)
c.334G>T (p.Glu112Ter)
c.1855G>T (p.Glu619Ter)
n.92G>T
c.1984G>T (p.Glu662Ter)
c.2128+5560G>T (n.2128+5560G>T)
n.2192G>T
n.2400G>T
c.1609G>T (p.Glu537Ter)
c.634G>T (p.Glu212Ter)
c.1348G>T (p.Glu450Ter)
n.2144G>T
n.2352G>T
1g.197427520_197427529delCA2574105527CRB1c.2195_2204del (p.Ser732ThrfsTer19)
c.1076_1085del (p.Ser359ThrfsTer19)
c.338_347del (p.Ser113ThrfsTer19)
c.1859_1868del (p.Ser620ThrfsTer19)
n.96_105del
c.1988_1997del (p.Ser663ThrfsTer19)
c.2128+5564_2128+5573del (n.2128+5564_2128+5573del)
n.2196_2205del
n.2404_2413del
c.1613_1622del (p.Ser538ThrfsTer19)
c.638_647del (p.Ser213ThrfsTer19)
c.1352_1361del (p.Ser451ThrfsTer19)
n.2148_2157del
n.2356_2365del
 ClinVar
1g.197427517A>CCA344036557CRB1c.2192A>C (p.Glu731Ala)
c.1073A>C (p.Glu358Ala)
c.335A>C (p.Glu112Ala)
c.1856A>C (p.Glu619Ala)
n.93A>C
c.1985A>C (p.Glu662Ala)
c.2128+5561A>C (n.2128+5561A>C)
n.2193A>C
n.2401A>C
c.1610A>C (p.Glu537Ala)
c.635A>C (p.Glu212Ala)
c.1349A>C (p.Glu450Ala)
n.2145A>C
n.2353A>C
1g.197427517A>GCA344036561CRB1c.2192A>G (p.Glu731Gly)
c.1073A>G (p.Glu358Gly)
c.335A>G (p.Glu112Gly)
c.1856A>G (p.Glu619Gly)
n.93A>G
c.1985A>G (p.Glu662Gly)
c.2128+5561A>G (n.2128+5561A>G)
n.2193A>G
n.2401A>G
c.1610A>G (p.Glu537Gly)
c.635A>G (p.Glu212Gly)
c.1349A>G (p.Glu450Gly)
n.2145A>G
n.2353A>G
1g.197427517A>TCA344036559CRB1c.2192A>T (p.Glu731Val)
c.1073A>T (p.Glu358Val)
c.335A>T (p.Glu112Val)
c.1856A>T (p.Glu619Val)
n.93A>T
c.1985A>T (p.Glu662Val)
c.2128+5561A>T (n.2128+5561A>T)
n.2193A>T
n.2401A>T
c.1610A>T (p.Glu537Val)
c.635A>T (p.Glu212Val)
c.1349A>T (p.Glu450Val)
n.2145A>T
n.2353A>T
1g.197427518G>ACA422808907CRB1c.2193G>A (p.Glu731=)
c.1074G>A (p.Glu358=)
c.336G>A (p.Glu112=)
c.1857G>A (p.Glu619=)
n.94G>A
c.1986G>A (p.Glu662=)
c.2128+5562G>A (n.2128+5562G>A)
n.2194G>A
n.2402G>A
c.1611G>A (p.Glu537=)
c.636G>A (p.Glu212=)
c.1350G>A (p.Glu450=)
n.2146G>A
n.2354G>A
1g.197427518G>CCA344036563CRB1c.2193G>C (p.Glu731Asp)
c.1074G>C (p.Glu358Asp)
c.336G>C (p.Glu112Asp)
c.1857G>C (p.Glu619Asp)
n.94G>C
c.1986G>C (p.Glu662Asp)
c.2128+5562G>C (n.2128+5562G>C)
n.2194G>C
n.2402G>C
c.1611G>C (p.Glu537Asp)
c.636G>C (p.Glu212Asp)
c.1350G>C (p.Glu450Asp)
n.2146G>C
n.2354G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197427518G=CA1218065937CRB1c.2193G= (p.Glu731=)
c.1074G= (p.Glu358=)
c.336G= (p.Glu112=)
c.1857G= (p.Glu619=)
n.94G=
c.1986G= (p.Glu662=)
c.2128+5562G= (n.2128+5562G=)
n.2194G=
n.2402G=
c.1611G= (p.Glu537=)
c.636G= (p.Glu212=)
c.1350G= (p.Glu450=)
n.2146G=
n.2354G=
1g.197427518G>TCA344036564CRB1c.2193G>T (p.Glu731Asp)
c.1074G>T (p.Glu358Asp)
c.336G>T (p.Glu112Asp)
c.1857G>T (p.Glu619Asp)
n.94G>T
c.1986G>T (p.Glu662Asp)
c.2128+5562G>T (n.2128+5562G>T)
n.2194G>T
n.2402G>T
c.1611G>T (p.Glu537Asp)
c.636G>T (p.Glu212Asp)
c.1350G>T (p.Glu450Asp)
n.2146G>T
n.2354G>T
1g.197427519A>CCA344036566CRB1c.2194A>C (p.Ser732Arg)
c.1075A>C (p.Ser359Arg)
c.337A>C (p.Ser113Arg)
c.1858A>C (p.Ser620Arg)
n.95A>C
c.1987A>C (p.Ser663Arg)
c.2128+5563A>C (n.2128+5563A>C)
n.2195A>C
n.2403A>C
c.1612A>C (p.Ser538Arg)
c.637A>C (p.Ser213Arg)
c.1351A>C (p.Ser451Arg)
n.2147A>C
n.2355A>C
1g.197427519A>GCA344036568CRB1c.2194A>G (p.Ser732Gly)
c.1075A>G (p.Ser359Gly)
c.337A>G (p.Ser113Gly)
c.1858A>G (p.Ser620Gly)
n.95A>G
c.1987A>G (p.Ser663Gly)
c.2128+5563A>G (n.2128+5563A>G)
n.2195A>G
n.2403A>G
c.1612A>G (p.Ser538Gly)
c.637A>G (p.Ser213Gly)
c.1351A>G (p.Ser451Gly)
n.2147A>G
n.2355A>G
1g.197427519A>TCA344036570CRB1c.2194A>T (p.Ser732Cys)
c.1075A>T (p.Ser359Cys)
c.337A>T (p.Ser113Cys)
c.1858A>T (p.Ser620Cys)
n.95A>T
c.1987A>T (p.Ser663Cys)
c.2128+5563A>T (n.2128+5563A>T)
n.2195A>T
n.2403A>T
c.1612A>T (p.Ser538Cys)
c.637A>T (p.Ser213Cys)
c.1351A>T (p.Ser451Cys)
n.2147A>T
n.2355A>T
1g.197427520G>ACA344036574CRB1c.2195G>A (p.Ser732Asn)
c.1076G>A (p.Ser359Asn)
c.338G>A (p.Ser113Asn)
c.1859G>A (p.Ser620Asn)
n.96G>A
c.1988G>A (p.Ser663Asn)
c.2128+5564G>A (n.2128+5564G>A)
n.2196G>A
n.2404G>A
c.1613G>A (p.Ser538Asn)
c.638G>A (p.Ser213Asn)
c.1352G>A (p.Ser451Asn)
n.2148G>A
n.2356G>A
1g.197427520G>CCA1312070CRB1c.2195G>C (p.Ser732Thr)
c.1076G>C (p.Ser359Thr)
c.338G>C (p.Ser113Thr)
c.1859G>C (p.Ser620Thr)
n.96G>C
c.1988G>C (p.Ser663Thr)
c.2128+5564G>C (n.2128+5564G>C)
n.2196G>C
n.2404G>C
c.1613G>C (p.Ser538Thr)
c.638G>C (p.Ser213Thr)
c.1352G>C (p.Ser451Thr)
n.2148G>C
n.2356G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427520G=CA1218065941CRB1c.2195G= (p.Ser732=)
c.1076G= (p.Ser359=)
c.338G= (p.Ser113=)
c.1859G= (p.Ser620=)
n.96G=
c.1988G= (p.Ser663=)
c.2128+5564G= (n.2128+5564G=)
n.2196G=
n.2404G=
c.1613G= (p.Ser538=)
c.638G= (p.Ser213=)
c.1352G= (p.Ser451=)
n.2148G=
n.2356G=
1g.197427520G>TCA344036576CRB1c.2195G>T (p.Ser732Ile)
c.1076G>T (p.Ser359Ile)
c.338G>T (p.Ser113Ile)
c.1859G>T (p.Ser620Ile)
n.96G>T
c.1988G>T (p.Ser663Ile)
c.2128+5564G>T (n.2128+5564G>T)
n.2196G>T
n.2404G>T
c.1613G>T (p.Ser538Ile)
c.638G>T (p.Ser213Ile)
c.1352G>T (p.Ser451Ile)
n.2148G>T
n.2356G>T
1g.197427521C>ACA344036578CRB1c.2196C>A (p.Ser732Arg)
c.1077C>A (p.Ser359Arg)
c.339C>A (p.Ser113Arg)
c.1860C>A (p.Ser620Arg)
n.97C>A
c.1989C>A (p.Ser663Arg)
c.2128+5565C>A (n.2128+5565C>A)
n.2197C>A
n.2405C>A
c.1614C>A (p.Ser538Arg)
c.639C>A (p.Ser213Arg)
c.1353C>A (p.Ser451Arg)
n.2149C>A
n.2357C>A
 gnomAD v4
1g.197427521C=CA1218065943CRB1c.2196C= (p.Ser732=)
c.1077C= (p.Ser359=)
c.339C= (p.Ser113=)
c.1860C= (p.Ser620=)
n.97C=
c.1989C= (p.Ser663=)
c.2128+5565C= (n.2128+5565C=)
n.2197C=
n.2405C=
c.1614C= (p.Ser538=)
c.639C= (p.Ser213=)
c.1353C= (p.Ser451=)
n.2149C=
n.2357C=
1g.197427521C>GCA344036579CRB1c.2196C>G (p.Ser732Arg)
c.1077C>G (p.Ser359Arg)
c.339C>G (p.Ser113Arg)
c.1860C>G (p.Ser620Arg)
n.97C>G
c.1989C>G (p.Ser663Arg)
c.2128+5565C>G (n.2128+5565C>G)
n.2197C>G
n.2405C>G
c.1614C>G (p.Ser538Arg)
c.639C>G (p.Ser213Arg)
c.1353C>G (p.Ser451Arg)
n.2149C>G
n.2357C>G
 ClinVar
1g.197427521C>TCA422808911CRB1c.2196C>T (p.Ser732=)
c.1077C>T (p.Ser359=)
c.339C>T (p.Ser113=)
c.1860C>T (p.Ser620=)
n.97C>T
c.1989C>T (p.Ser663=)
c.2128+5565C>T (n.2128+5565C>T)
n.2197C>T
n.2405C>T
c.1614C>T (p.Ser538=)
c.639C>T (p.Ser213=)
c.1353C>T (p.Ser451=)
n.2149C>T
n.2357C>T
 dbSNP gnomAD v3 gnomAD v4
1g.197427522T>ACA344036585CRB1c.2197T>A (p.Tyr733Asn)
c.1078T>A (p.Tyr360Asn)
c.340T>A (p.Tyr114Asn)
c.1861T>A (p.Tyr621Asn)
n.98T>A
c.1990T>A (p.Tyr664Asn)
c.2128+5566T>A (n.2128+5566T>A)
n.2198T>A
n.2406T>A
c.1615T>A (p.Tyr539Asn)
c.640T>A (p.Tyr214Asn)
c.1354T>A (p.Tyr452Asn)
n.2150T>A
n.2358T>A
1g.197427522T>CCA344036584CRB1c.2197T>C (p.Tyr733His)
c.1078T>C (p.Tyr360His)
c.340T>C (p.Tyr114His)
c.1861T>C (p.Tyr621His)
n.98T>C
c.1990T>C (p.Tyr664His)
c.2128+5566T>C (n.2128+5566T>C)
n.2198T>C
n.2406T>C
c.1615T>C (p.Tyr539His)
c.640T>C (p.Tyr214His)
c.1354T>C (p.Tyr452His)
n.2150T>C
n.2358T>C
1g.197427522T>GCA344036582CRB1c.2197T>G (p.Tyr733Asp)
c.1078T>G (p.Tyr360Asp)
c.340T>G (p.Tyr114Asp)
c.1861T>G (p.Tyr621Asp)
n.98T>G
c.1990T>G (p.Tyr664Asp)
c.2128+5566T>G (n.2128+5566T>G)
n.2198T>G
n.2406T>G
c.1615T>G (p.Tyr539Asp)
c.640T>G (p.Tyr214Asp)
c.1354T>G (p.Tyr452Asp)
n.2150T>G
n.2358T>G
1g.197427523A=CA1218065946CRB1c.2198A= (p.Tyr733=)
c.1079A= (p.Tyr360=)
c.341A= (p.Tyr114=)
c.1862A= (p.Tyr621=)
n.99A=
c.1991A= (p.Tyr664=)
c.2128+5567A= (n.2128+5567A=)
n.2199A=
n.2407A=
c.1616A= (p.Tyr539=)
c.641A= (p.Tyr214=)
c.1355A= (p.Tyr452=)
n.2151A=
n.2359A=
1g.197427523A>CCA344036588CRB1c.2198A>C (p.Tyr733Ser)
c.1079A>C (p.Tyr360Ser)
c.341A>C (p.Tyr114Ser)
c.1862A>C (p.Tyr621Ser)
n.99A>C
c.1991A>C (p.Tyr664Ser)
c.2128+5567A>C (n.2128+5567A>C)
n.2199A>C
n.2407A>C
c.1616A>C (p.Tyr539Ser)
c.641A>C (p.Tyr214Ser)
c.1355A>C (p.Tyr452Ser)
n.2151A>C
n.2359A>C
1g.197427523A>GCA1312071CRB1c.2198A>G (p.Tyr733Cys)
c.1079A>G (p.Tyr360Cys)
c.341A>G (p.Tyr114Cys)
c.1862A>G (p.Tyr621Cys)
n.99A>G
c.1991A>G (p.Tyr664Cys)
c.2128+5567A>G (n.2128+5567A>G)
n.2199A>G
n.2407A>G
c.1616A>G (p.Tyr539Cys)
c.641A>G (p.Tyr214Cys)
c.1355A>G (p.Tyr452Cys)
n.2151A>G
n.2359A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427523A>TCA344036592CRB1c.2198A>T (p.Tyr733Phe)
c.1079A>T (p.Tyr360Phe)
c.341A>T (p.Tyr114Phe)
c.1862A>T (p.Tyr621Phe)
n.99A>T
c.1991A>T (p.Tyr664Phe)
c.2128+5567A>T (n.2128+5567A>T)
n.2199A>T
n.2407A>T
c.1616A>T (p.Tyr539Phe)
c.641A>T (p.Tyr214Phe)
c.1355A>T (p.Tyr452Phe)
n.2151A>T
n.2359A>T
1g.197427524T>ACA344036594CRB1c.2199T>A (p.Tyr733Ter)
c.1080T>A (p.Tyr360Ter)
c.342T>A (p.Tyr114Ter)
c.1863T>A (p.Tyr621Ter)
n.100T>A
c.1992T>A (p.Tyr664Ter)
c.2128+5568T>A (n.2128+5568T>A)
n.2200T>A
n.2408T>A
c.1617T>A (p.Tyr539Ter)
c.642T>A (p.Tyr214Ter)
c.1356T>A (p.Tyr452Ter)
n.2152T>A
n.2360T>A
 gnomAD v4
1g.197427524T>CCA1312072CRB1c.2199T>C (p.Tyr733=)
c.1080T>C (p.Tyr360=)
c.342T>C (p.Tyr114=)
c.1863T>C (p.Tyr621=)
n.100T>C
c.1992T>C (p.Tyr664=)
c.2128+5568T>C (n.2128+5568T>C)
n.2200T>C
n.2408T>C
c.1617T>C (p.Tyr539=)
c.642T>C (p.Tyr214=)
c.1356T>C (p.Tyr452=)
n.2152T>C
n.2360T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197427524T>GCA344036597CRB1c.2199T>G (p.Tyr733Ter)
c.1080T>G (p.Tyr360Ter)
c.342T>G (p.Tyr114Ter)
c.1863T>G (p.Tyr621Ter)
n.100T>G
c.1992T>G (p.Tyr664Ter)
c.2128+5568T>G (n.2128+5568T>G)
n.2200T>G
n.2408T>G
c.1617T>G (p.Tyr539Ter)
c.642T>G (p.Tyr214Ter)
c.1356T>G (p.Tyr452Ter)
n.2152T>G
n.2360T>G
1g.197427524T=CA1149104412CRB1c.2199T= (p.Tyr733=)
c.1080T= (p.Tyr360=)
c.342T= (p.Tyr114=)
c.1863T= (p.Tyr621=)
n.100T=
c.1992T= (p.Tyr664=)
c.2128+5568T= (n.2128+5568T=)
n.2200T=
n.2408T=
c.1617T= (p.Tyr539=)
c.642T= (p.Tyr214=)
c.1356T= (p.Tyr452=)
n.2152T=
n.2360T=
1g.197427525G>ACA344036599CRB1c.2200G>A (p.Gly734Arg)
c.1081G>A (p.Gly361Arg)
c.343G>A (p.Gly115Arg)
c.1864G>A (p.Gly622Arg)
n.101G>A
c.1993G>A (p.Gly665Arg)
c.2128+5569G>A (n.2128+5569G>A)
n.2201G>A
n.2409G>A
c.1618G>A (p.Gly540Arg)
c.643G>A (p.Gly215Arg)
c.1357G>A (p.Gly453Arg)
n.2153G>A
n.2361G>A
 dbSNP gnomAD v3 gnomAD v4
1g.197427525G>CCA344036601CRB1c.2200G>C (p.Gly734Arg)
c.1081G>C (p.Gly361Arg)
c.343G>C (p.Gly115Arg)
c.1864G>C (p.Gly622Arg)
n.101G>C
c.1993G>C (p.Gly665Arg)
c.2128+5569G>C (n.2128+5569G>C)
n.2201G>C
n.2409G>C
c.1618G>C (p.Gly540Arg)
c.643G>C (p.Gly215Arg)
c.1357G>C (p.Gly453Arg)
n.2153G>C
n.2361G>C
1g.197427525G=CA1218065950CRB1c.2200G= (p.Gly734=)
c.1081G= (p.Gly361=)
c.343G= (p.Gly115=)
c.1864G= (p.Gly622=)
n.101G=
c.1993G= (p.Gly665=)
c.2128+5569G= (n.2128+5569G=)
n.2201G=
n.2409G=
c.1618G= (p.Gly540=)
c.643G= (p.Gly215=)
c.1357G= (p.Gly453=)
n.2153G=
n.2361G=
1g.197427525G>TCA344036603CRB1c.2200G>T (p.Gly734Ter)
c.1081G>T (p.Gly361Ter)
c.343G>T (p.Gly115Ter)
c.1864G>T (p.Gly622Ter)
n.101G>T
c.1993G>T (p.Gly665Ter)
c.2128+5569G>T (n.2128+5569G>T)
n.2201G>T
n.2409G>T
c.1618G>T (p.Gly540Ter)
c.643G>T (p.Gly215Ter)
c.1357G>T (p.Gly453Ter)
n.2153G>T
n.2361G>T
1g.197427526G>ACA344036604CRB1c.2201G>A (p.Gly734Glu)
c.1082G>A (p.Gly361Glu)
c.344G>A (p.Gly115Glu)
c.1865G>A (p.Gly622Glu)
n.102G>A
c.1994G>A (p.Gly665Glu)
c.2128+5570G>A (n.2128+5570G>A)
n.2202G>A
n.2410G>A
c.1619G>A (p.Gly540Glu)
c.644G>A (p.Gly215Glu)
c.1358G>A (p.Gly453Glu)
n.2154G>A
n.2362G>A
1g.197427526G>CCA344036606CRB1c.2201G>C (p.Gly734Ala)
c.1082G>C (p.Gly361Ala)
c.344G>C (p.Gly115Ala)
c.1865G>C (p.Gly622Ala)
n.102G>C
c.1994G>C (p.Gly665Ala)
c.2128+5570G>C (n.2128+5570G>C)
n.2202G>C
n.2410G>C
c.1619G>C (p.Gly540Ala)
c.644G>C (p.Gly215Ala)
c.1358G>C (p.Gly453Ala)
n.2154G>C
n.2362G>C
1g.197427526G>TCA344036608CRB1c.2201G>T (p.Gly734Val)
c.1082G>T (p.Gly361Val)
c.344G>T (p.Gly115Val)
c.1865G>T (p.Gly622Val)
n.102G>T
c.1994G>T (p.Gly665Val)
c.2128+5570G>T (n.2128+5570G>T)
n.2202G>T
n.2410G>T
c.1619G>T (p.Gly540Val)
c.644G>T (p.Gly215Val)
c.1358G>T (p.Gly453Val)
n.2154G>T
n.2362G>T
1g.197427527A>CCA422808913CRB1c.2202A>C (p.Gly734=)
c.1083A>C (p.Gly361=)
c.345A>C (p.Gly115=)
c.1866A>C (p.Gly622=)
n.103A>C
c.1995A>C (p.Gly665=)
c.2128+5571A>C (n.2128+5571A>C)
n.2203A>C
n.2411A>C
c.1620A>C (p.Gly540=)
c.645A>C (p.Gly215=)
c.1359A>C (p.Gly453=)
n.2155A>C
n.2363A>C
1g.197427527A>GCA422808915CRB1c.2202A>G (p.Gly734=)
c.1083A>G (p.Gly361=)
c.345A>G (p.Gly115=)
c.1866A>G (p.Gly622=)
n.103A>G
c.1995A>G (p.Gly665=)
c.2128+5571A>G (n.2128+5571A>G)
n.2203A>G
n.2411A>G
c.1620A>G (p.Gly540=)
c.645A>G (p.Gly215=)
c.1359A>G (p.Gly453=)
n.2155A>G
n.2363A>G
1g.197427527A>TCA422808916CRB1c.2202A>T (p.Gly734=)
c.1083A>T (p.Gly361=)
c.345A>T (p.Gly115=)
c.1866A>T (p.Gly622=)
n.103A>T
c.1995A>T (p.Gly665=)
c.2128+5571A>T (n.2128+5571A>T)
n.2203A>T
n.2411A>T
c.1620A>T (p.Gly540=)
c.645A>T (p.Gly215=)
c.1359A>T (p.Gly453=)
n.2155A>T
n.2363A>T
1g.197427528G>ACA344036613CRB1c.2203G>A (p.Asp735Asn)
c.1084G>A (p.Asp362Asn)
c.346G>A (p.Asp116Asn)
c.1867G>A (p.Asp623Asn)
n.104G>A
c.1996G>A (p.Asp666Asn)
c.2128+5572G>A (n.2128+5572G>A)
n.2204G>A
n.2412G>A
c.1621G>A (p.Asp541Asn)
c.646G>A (p.Asp216Asn)
c.1360G>A (p.Asp454Asn)
n.2156G>A
n.2364G>A
1g.197427528G>CCA344036615CRB1c.2203G>C (p.Asp735His)
c.1084G>C (p.Asp362His)
c.346G>C (p.Asp116His)
c.1867G>C (p.Asp623His)
n.104G>C
c.1996G>C (p.Asp666His)
c.2128+5572G>C (n.2128+5572G>C)
n.2204G>C
n.2412G>C
c.1621G>C (p.Asp541His)
c.646G>C (p.Asp216His)
c.1360G>C (p.Asp454His)
n.2156G>C
n.2364G>C
1g.197427528G>TCA344036611CRB1c.2203G>T (p.Asp735Tyr)
c.1084G>T (p.Asp362Tyr)
c.346G>T (p.Asp116Tyr)
c.1867G>T (p.Asp623Tyr)
n.104G>T
c.1996G>T (p.Asp666Tyr)
c.2128+5572G>T (n.2128+5572G>T)
n.2204G>T
n.2412G>T
c.1621G>T (p.Asp541Tyr)
c.646G>T (p.Asp216Tyr)
c.1360G>T (p.Asp454Tyr)
n.2156G>T
n.2364G>T
1g.197427529A>CCA344036617CRB1c.2204A>C (p.Asp735Ala)
c.1085A>C (p.Asp362Ala)
c.347A>C (p.Asp116Ala)
c.1868A>C (p.Asp623Ala)
n.105A>C
c.1997A>C (p.Asp666Ala)
c.2128+5573A>C (n.2128+5573A>C)
n.2205A>C
n.2413A>C
c.1622A>C (p.Asp541Ala)
c.647A>C (p.Asp216Ala)
c.1361A>C (p.Asp454Ala)
n.2157A>C
n.2365A>C
1g.197427529A>GCA344036618CRB1c.2204A>G (p.Asp735Gly)
c.1085A>G (p.Asp362Gly)
c.347A>G (p.Asp116Gly)
c.1868A>G (p.Asp623Gly)
n.105A>G
c.1997A>G (p.Asp666Gly)
c.2128+5573A>G (n.2128+5573A>G)
n.2205A>G
n.2413A>G
c.1622A>G (p.Asp541Gly)
c.647A>G (p.Asp216Gly)
c.1361A>G (p.Asp454Gly)
n.2157A>G
n.2365A>G
1g.197427529A>TCA344036619CRB1c.2204A>T (p.Asp735Val)
c.1085A>T (p.Asp362Val)
c.347A>T (p.Asp116Val)
c.1868A>T (p.Asp623Val)
n.105A>T
c.1997A>T (p.Asp666Val)
c.2128+5573A>T (n.2128+5573A>T)
n.2205A>T
n.2413A>T
c.1622A>T (p.Asp541Val)
c.647A>T (p.Asp216Val)
c.1361A>T (p.Asp454Val)
n.2157A>T
n.2365A>T
1g.197427530C>ACA344036620CRB1c.2205C>A (p.Asp735Glu)
c.1086C>A (p.Asp362Glu)
c.348C>A (p.Asp116Glu)
c.1869C>A (p.Asp623Glu)
n.106C>A
c.1998C>A (p.Asp666Glu)
c.2128+5574C>A (n.2128+5574C>A)
n.2206C>A
n.2414C>A
c.1623C>A (p.Asp541Glu)
c.648C>A (p.Asp216Glu)
c.1362C>A (p.Asp454Glu)
n.2158C>A
n.2366C>A
1g.197427530C>GCA344036622CRB1c.2205C>G (p.Asp735Glu)
c.1086C>G (p.Asp362Glu)
c.348C>G (p.Asp116Glu)
c.1869C>G (p.Asp623Glu)
n.106C>G
c.1998C>G (p.Asp666Glu)
c.2128+5574C>G (n.2128+5574C>G)
n.2206C>G
n.2414C>G
c.1623C>G (p.Asp541Glu)
c.648C>G (p.Asp216Glu)
c.1362C>G (p.Asp454Glu)
n.2158C>G
n.2366C>G
1g.197427530C>TCA422808917CRB1c.2205C>T (p.Asp735=)
c.1086C>T (p.Asp362=)
c.348C>T (p.Asp116=)
c.1869C>T (p.Asp623=)
n.106C>T
c.1998C>T (p.Asp666=)
c.2128+5574C>T (n.2128+5574C>T)
n.2206C>T
n.2414C>T
c.1623C>T (p.Asp541=)
c.648C>T (p.Asp216=)
c.1362C>T (p.Asp454=)
n.2158C>T
n.2366C>T
 ClinVar gnomAD v4
1g.197427531A>CCA344036627CRB1c.2206A>C (p.Thr736Pro)
c.1087A>C (p.Thr363Pro)
c.349A>C (p.Thr117Pro)
c.1870A>C (p.Thr624Pro)
n.107A>C
c.1999A>C (p.Thr667Pro)
c.2128+5575A>C (n.2128+5575A>C)
n.2207A>C
n.2415A>C
c.1624A>C (p.Thr542Pro)
c.649A>C (p.Thr217Pro)
c.1363A>C (p.Thr455Pro)
n.2159A>C
n.2367A>C
1g.197427531A>GCA344036623CRB1c.2206A>G (p.Thr736Ala)
c.1087A>G (p.Thr363Ala)
c.349A>G (p.Thr117Ala)
c.1870A>G (p.Thr624Ala)
n.107A>G
c.1999A>G (p.Thr667Ala)
c.2128+5575A>G (n.2128+5575A>G)
n.2207A>G
n.2415A>G
c.1624A>G (p.Thr542Ala)
c.649A>G (p.Thr217Ala)
c.1363A>G (p.Thr455Ala)
n.2159A>G
n.2367A>G
1g.197427531A>TCA344036625CRB1c.2206A>T (p.Thr736Ser)
c.1087A>T (p.Thr363Ser)
c.349A>T (p.Thr117Ser)
c.1870A>T (p.Thr624Ser)
n.107A>T
c.1999A>T (p.Thr667Ser)
c.2128+5575A>T (n.2128+5575A>T)
n.2207A>T
n.2415A>T
c.1624A>T (p.Thr542Ser)
c.649A>T (p.Thr217Ser)
c.1363A>T (p.Thr455Ser)
n.2159A>T
n.2367A>T
1g.197427532C>ACA344036629CRB1c.2207C>A (p.Thr736Asn)
c.1088C>A (p.Thr363Asn)
c.350C>A (p.Thr117Asn)
c.1871C>A (p.Thr624Asn)
n.108C>A
c.2000C>A (p.Thr667Asn)
c.2128+5576C>A (n.2128+5576C>A)
n.2208C>A
n.2416C>A
c.1625C>A (p.Thr542Asn)
c.650C>A (p.Thr217Asn)
c.1364C>A (p.Thr455Asn)
n.2160C>A
n.2368C>A
 gnomAD v4
1g.197427532C>GCA344036631CRB1c.2207C>G (p.Thr736Ser)
c.1088C>G (p.Thr363Ser)
c.350C>G (p.Thr117Ser)
c.1871C>G (p.Thr624Ser)
n.108C>G
c.2000C>G (p.Thr667Ser)
c.2128+5576C>G (n.2128+5576C>G)
n.2208C>G
n.2416C>G
c.1625C>G (p.Thr542Ser)
c.650C>G (p.Thr217Ser)
c.1364C>G (p.Thr455Ser)
n.2160C>G
n.2368C>G
1g.197427532C>TCA344036632CRB1c.2207C>T (p.Thr736Ile)
c.1088C>T (p.Thr363Ile)
c.350C>T (p.Thr117Ile)
c.1871C>T (p.Thr624Ile)
n.108C>T
c.2000C>T (p.Thr667Ile)
c.2128+5576C>T (n.2128+5576C>T)
n.2208C>T
n.2416C>T
c.1625C>T (p.Thr542Ile)
c.650C>T (p.Thr217Ile)
c.1364C>T (p.Thr455Ile)
n.2160C>T
n.2368C>T
1g.197427533C>ACA422808919CRB1c.2208C>A (p.Thr736=)
c.1089C>A (p.Thr363=)
c.351C>A (p.Thr117=)
c.1872C>A (p.Thr624=)
n.109C>A
c.2001C>A (p.Thr667=)
c.2128+5577C>A (n.2128+5577C>A)
n.2209C>A
n.2417C>A
c.1626C>A (p.Thr542=)
c.651C>A (p.Thr217=)
c.1365C>A (p.Thr455=)
n.2161C>A
n.2369C>A
1g.197427533C=CA1218065951CRB1c.2208C= (p.Thr736=)
c.1089C= (p.Thr363=)
c.351C= (p.Thr117=)
c.1872C= (p.Thr624=)
n.109C=
c.2001C= (p.Thr667=)
c.2128+5577C= (n.2128+5577C=)
n.2209C=
n.2417C=
c.1626C= (p.Thr542=)
c.651C= (p.Thr217=)
c.1365C= (p.Thr455=)
n.2161C=
n.2369C=
1g.197427533C>GCA422808920CRB1c.2208C>G (p.Thr736=)
c.1089C>G (p.Thr363=)
c.351C>G (p.Thr117=)
c.1872C>G (p.Thr624=)
n.109C>G
c.2001C>G (p.Thr667=)
c.2128+5577C>G (n.2128+5577C>G)
n.2209C>G
n.2417C>G
c.1626C>G (p.Thr542=)
c.651C>G (p.Thr217=)
c.1365C>G (p.Thr455=)
n.2161C>G
n.2369C>G
 dbSNP gnomAD v4
1g.197427533C>TCA422808922CRB1c.2208C>T (p.Thr736=)
c.1089C>T (p.Thr363=)
c.351C>T (p.Thr117=)
c.1872C>T (p.Thr624=)
n.109C>T
c.2001C>T (p.Thr667=)
c.2128+5577C>T (n.2128+5577C>T)
n.2209C>T
n.2417C>T
c.1626C>T (p.Thr542=)
c.651C>T (p.Thr217=)
c.1365C>T (p.Thr455=)
n.2161C>T
n.2369C>T
 ClinVar dbSNP
1g.197427534A=CA1141848460CRB1c.2209A= (p.Ile737=)
c.1090A= (p.Ile364=)
c.352A= (p.Ile118=)
c.1873A= (p.Ile625=)
n.110A=
c.2002A= (p.Ile668=)
c.2128+5578A= (n.2128+5578A=)
n.2210A=
n.2418A=
c.1627A= (p.Ile543=)
c.652A= (p.Ile218=)
c.1366A= (p.Ile456=)
n.2162A=
n.2370A=
1g.197427534A>CCA344036635CRB1c.2209A>C (p.Ile737Leu)
c.1090A>C (p.Ile364Leu)
c.352A>C (p.Ile118Leu)
c.1873A>C (p.Ile625Leu)
n.110A>C
c.2002A>C (p.Ile668Leu)
c.2128+5578A>C (n.2128+5578A>C)
n.2210A>C
n.2418A>C
c.1627A>C (p.Ile543Leu)
c.652A>C (p.Ile218Leu)
c.1366A>C (p.Ile456Leu)
n.2162A>C
n.2370A>C
1g.197427534A>GCA1312073CRB1c.2209A>G (p.Ile737Val)
c.1090A>G (p.Ile364Val)
c.352A>G (p.Ile118Val)
c.1873A>G (p.Ile625Val)
n.110A>G
c.2002A>G (p.Ile668Val)
c.2128+5578A>G (n.2128+5578A>G)
n.2210A>G
n.2418A>G
c.1627A>G (p.Ile543Val)
c.652A>G (p.Ile218Val)
c.1366A>G (p.Ile456Val)
n.2162A>G
n.2370A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427534A>TCA344036638CRB1c.2209A>T (p.Ile737Phe)
c.1090A>T (p.Ile364Phe)
c.352A>T (p.Ile118Phe)
c.1873A>T (p.Ile625Phe)
n.110A>T
c.2002A>T (p.Ile668Phe)
c.2128+5578A>T (n.2128+5578A>T)
n.2210A>T
n.2418A>T
c.1627A>T (p.Ile543Phe)
c.652A>T (p.Ile218Phe)
c.1366A>T (p.Ile456Phe)
n.2162A>T
n.2370A>T
 dbSNP
1g.197427535T>ACA1312074CRB1c.2210T>A (p.Ile737Asn)
c.1091T>A (p.Ile364Asn)
c.353T>A (p.Ile118Asn)
c.1874T>A (p.Ile625Asn)
n.111T>A
c.2003T>A (p.Ile668Asn)
c.2128+5579T>A (n.2128+5579T>A)
n.2211T>A
n.2419T>A
c.1628T>A (p.Ile543Asn)
c.653T>A (p.Ile218Asn)
c.1367T>A (p.Ile456Asn)
n.2163T>A
n.2371T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197427535T>CCA344036643CRB1c.2210T>C (p.Ile737Thr)
c.1091T>C (p.Ile364Thr)
c.353T>C (p.Ile118Thr)
c.1874T>C (p.Ile625Thr)
n.111T>C
c.2003T>C (p.Ile668Thr)
c.2128+5579T>C (n.2128+5579T>C)
n.2211T>C
n.2419T>C
c.1628T>C (p.Ile543Thr)
c.653T>C (p.Ile218Thr)
c.1367T>C (p.Ile456Thr)
n.2163T>C
n.2371T>C
1g.197427535T>GCA344036641CRB1c.2210T>G (p.Ile737Ser)
c.1091T>G (p.Ile364Ser)
c.353T>G (p.Ile118Ser)
c.1874T>G (p.Ile625Ser)
n.111T>G
c.2003T>G (p.Ile668Ser)
c.2128+5579T>G (n.2128+5579T>G)
n.2211T>G
n.2419T>G
c.1628T>G (p.Ile543Ser)
c.653T>G (p.Ile218Ser)
c.1367T>G (p.Ile456Ser)
n.2163T>G
n.2371T>G
 dbSNP gnomAD v3 gnomAD v4
1g.197427535T=CA1218065957CRB1c.2210T= (p.Ile737=)
c.1091T= (p.Ile364=)
c.353T= (p.Ile118=)
c.1874T= (p.Ile625=)
n.111T=
c.2003T= (p.Ile668=)
c.2128+5579T= (n.2128+5579T=)
n.2211T=
n.2419T=
c.1628T= (p.Ile543=)
c.653T= (p.Ile218=)
c.1367T= (p.Ile456=)
n.2163T=
n.2371T=
1g.197427536C>ACA422808923CRB1c.2211C>A (p.Ile737=)
c.1092C>A (p.Ile364=)
c.354C>A (p.Ile118=)
c.1875C>A (p.Ile625=)
n.112C>A
c.2004C>A (p.Ile668=)
c.2128+5580C>A (n.2128+5580C>A)
n.2212C>A
n.2420C>A
c.1629C>A (p.Ile543=)
c.654C>A (p.Ile218=)
c.1368C>A (p.Ile456=)
n.2164C>A
n.2372C>A
1g.197427536C>GCA344036646CRB1c.2211C>G (p.Ile737Met)
c.1092C>G (p.Ile364Met)
c.354C>G (p.Ile118Met)
c.1875C>G (p.Ile625Met)
n.112C>G
c.2004C>G (p.Ile668Met)
c.2128+5580C>G (n.2128+5580C>G)
n.2212C>G
n.2420C>G
c.1629C>G (p.Ile543Met)
c.654C>G (p.Ile218Met)
c.1368C>G (p.Ile456Met)
n.2164C>G
n.2372C>G
1g.197427536C>TCA422808926CRB1c.2211C>T (p.Ile737=)
c.1092C>T (p.Ile364=)
c.354C>T (p.Ile118=)
c.1875C>T (p.Ile625=)
n.112C>T
c.2004C>T (p.Ile668=)
c.2128+5580C>T (n.2128+5580C>T)
n.2212C>T
n.2420C>T
c.1629C>T (p.Ile543=)
c.654C>T (p.Ile218=)
c.1368C>T (p.Ile456=)
n.2164C>T
n.2372C>T
1g.197427537A>CCA344036648CRB1c.2212A>C (p.Ser738Arg)
c.1093A>C (p.Ser365Arg)
c.355A>C (p.Ser119Arg)
c.1876A>C (p.Ser626Arg)
n.113A>C
c.2005A>C (p.Ser669Arg)
c.2128+5581A>C (n.2128+5581A>C)
n.2213A>C
n.2421A>C
c.1630A>C (p.Ser544Arg)
c.655A>C (p.Ser219Arg)
c.1369A>C (p.Ser457Arg)
n.2165A>C
n.2373A>C
1g.197427537A>GCA344036652CRB1c.2212A>G (p.Ser738Gly)
c.1093A>G (p.Ser365Gly)
c.355A>G (p.Ser119Gly)
c.1876A>G (p.Ser626Gly)
n.113A>G
c.2005A>G (p.Ser669Gly)
c.2128+5581A>G (n.2128+5581A>G)
n.2213A>G
n.2421A>G
c.1630A>G (p.Ser544Gly)
c.655A>G (p.Ser219Gly)
c.1369A>G (p.Ser457Gly)
n.2165A>G
n.2373A>G
1g.197427537A>TCA344036649CRB1c.2212A>T (p.Ser738Cys)
c.1093A>T (p.Ser365Cys)
c.355A>T (p.Ser119Cys)
c.1876A>T (p.Ser626Cys)
n.113A>T
c.2005A>T (p.Ser669Cys)
c.2128+5581A>T (n.2128+5581A>T)
n.2213A>T
n.2421A>T
c.1630A>T (p.Ser544Cys)
c.655A>T (p.Ser219Cys)
c.1369A>T (p.Ser457Cys)
n.2165A>T
n.2373A>T
1g.197427538G>ACA344036654CRB1c.2213G>A (p.Ser738Asn)
c.1094G>A (p.Ser365Asn)
c.356G>A (p.Ser119Asn)
c.1877G>A (p.Ser626Asn)
n.114G>A
c.2006G>A (p.Ser669Asn)
c.2128+5582G>A (n.2128+5582G>A)
n.2214G>A
n.2422G>A
c.1631G>A (p.Ser544Asn)
c.656G>A (p.Ser219Asn)
c.1370G>A (p.Ser457Asn)
n.2166G>A
n.2374G>A
 gnomAD v4
1g.197427538G>CCA344036656CRB1c.2213G>C (p.Ser738Thr)
c.1094G>C (p.Ser365Thr)
c.356G>C (p.Ser119Thr)
c.1877G>C (p.Ser626Thr)
n.114G>C
c.2006G>C (p.Ser669Thr)
c.2128+5582G>C (n.2128+5582G>C)
n.2214G>C
n.2422G>C
c.1631G>C (p.Ser544Thr)
c.656G>C (p.Ser219Thr)
c.1370G>C (p.Ser457Thr)
n.2166G>C
n.2374G>C
 dbSNP gnomAD v4
1g.197427538G=CA1148482153CRB1c.2213G= (p.Ser738=)
c.1094G= (p.Ser365=)
c.356G= (p.Ser119=)
c.1877G= (p.Ser626=)
n.114G=
c.2006G= (p.Ser669=)
c.2128+5582G= (n.2128+5582G=)
n.2214G=
n.2422G=
c.1631G= (p.Ser544=)
c.656G= (p.Ser219=)
c.1370G= (p.Ser457=)
n.2166G=
n.2374G=
1g.197427538G>TCA1312075CRB1c.2213G>T (p.Ser738Ile)
c.1094G>T (p.Ser365Ile)
c.356G>T (p.Ser119Ile)
c.1877G>T (p.Ser626Ile)
n.114G>T
c.2006G>T (p.Ser669Ile)
c.2128+5582G>T (n.2128+5582G>T)
n.2214G>T
n.2422G>T
c.1631G>T (p.Ser544Ile)
c.656G>T (p.Ser219Ile)
c.1370G>T (p.Ser457Ile)
n.2166G>T
n.2374G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427539C>ACA344036659CRB1c.2214C>A (p.Ser738Arg)
c.1095C>A (p.Ser365Arg)
c.357C>A (p.Ser119Arg)
c.1878C>A (p.Ser626Arg)
n.115C>A
c.2007C>A (p.Ser669Arg)
c.2128+5583C>A (n.2128+5583C>A)
n.2215C>A
n.2423C>A
c.1632C>A (p.Ser544Arg)
c.657C>A (p.Ser219Arg)
c.1371C>A (p.Ser457Arg)
n.2167C>A
n.2375C>A
1g.197427539C>GCA344036660CRB1c.2214C>G (p.Ser738Arg)
c.1095C>G (p.Ser365Arg)
c.357C>G (p.Ser119Arg)
c.1878C>G (p.Ser626Arg)
n.115C>G
c.2007C>G (p.Ser669Arg)
c.2128+5583C>G (n.2128+5583C>G)
n.2215C>G
n.2423C>G
c.1632C>G (p.Ser544Arg)
c.657C>G (p.Ser219Arg)
c.1371C>G (p.Ser457Arg)
n.2167C>G
n.2375C>G
1g.197427539C>TCA422808930CRB1c.2214C>T (p.Ser738=)
c.1095C>T (p.Ser365=)
c.357C>T (p.Ser119=)
c.1878C>T (p.Ser626=)
n.115C>T
c.2007C>T (p.Ser669=)
c.2128+5583C>T (n.2128+5583C>T)
n.2215C>T
n.2423C>T
c.1632C>T (p.Ser544=)
c.657C>T (p.Ser219=)
c.1371C>T (p.Ser457=)
n.2167C>T
n.2375C>T
1g.197427540C>ACA344036662CRB1c.2215C>A (p.Leu739Ile)
c.1096C>A (p.Leu366Ile)
c.358C>A (p.Leu120Ile)
c.1879C>A (p.Leu627Ile)
n.116C>A
c.2008C>A (p.Leu670Ile)
c.2128+5584C>A (n.2128+5584C>A)
n.2216C>A
n.2424C>A
c.1633C>A (p.Leu545Ile)
c.658C>A (p.Leu220Ile)
c.1372C>A (p.Leu458Ile)
n.2168C>A
n.2376C>A
1g.197427540C=CA1218065958CRB1c.2215C= (p.Leu739=)
c.1096C= (p.Leu366=)
c.358C= (p.Leu120=)
c.1879C= (p.Leu627=)
n.116C=
c.2008C= (p.Leu670=)
c.2128+5584C= (n.2128+5584C=)
n.2216C=
n.2424C=
c.1633C= (p.Leu545=)
c.658C= (p.Leu220=)
c.1372C= (p.Leu458=)
n.2168C=
n.2376C=
1g.197427540C>GCA344036666CRB1c.2215C>G (p.Leu739Val)
c.1096C>G (p.Leu366Val)
c.358C>G (p.Leu120Val)
c.1879C>G (p.Leu627Val)
n.116C>G
c.2008C>G (p.Leu670Val)
c.2128+5584C>G (n.2128+5584C>G)
n.2216C>G
n.2424C>G
c.1633C>G (p.Leu545Val)
c.658C>G (p.Leu220Val)
c.1372C>G (p.Leu458Val)
n.2168C>G
n.2376C>G
1g.197427540C>TCA1312076CRB1c.2215C>T (p.Leu739Phe)
c.1096C>T (p.Leu366Phe)
c.358C>T (p.Leu120Phe)
c.1879C>T (p.Leu627Phe)
n.116C>T
c.2008C>T (p.Leu670Phe)
c.2128+5584C>T (n.2128+5584C>T)
n.2216C>T
n.2424C>T
c.1633C>T (p.Leu545Phe)
c.658C>T (p.Leu220Phe)
c.1372C>T (p.Leu458Phe)
n.2168C>T
n.2376C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.197427541T>ACA344036668CRB1c.2216T>A (p.Leu739His)
c.1097T>A (p.Leu366His)
c.359T>A (p.Leu120His)
c.1880T>A (p.Leu627His)
n.117T>A
c.2009T>A (p.Leu670His)
c.2128+5585T>A (n.2128+5585T>A)
n.2217T>A
n.2425T>A
c.1634T>A (p.Leu545His)
c.659T>A (p.Leu220His)
c.1373T>A (p.Leu458His)
n.2169T>A
n.2377T>A
1g.197427541T>CCA344036670CRB1c.2216T>C (p.Leu739Pro)
c.1097T>C (p.Leu366Pro)
c.359T>C (p.Leu120Pro)
c.1880T>C (p.Leu627Pro)
n.117T>C
c.2009T>C (p.Leu670Pro)
c.2128+5585T>C (n.2128+5585T>C)
n.2217T>C
n.2425T>C
c.1634T>C (p.Leu545Pro)
c.659T>C (p.Leu220Pro)
c.1373T>C (p.Leu458Pro)
n.2169T>C
n.2377T>C
1g.197427541T>GCA344036672CRB1c.2216T>G (p.Leu739Arg)
c.1097T>G (p.Leu366Arg)
c.359T>G (p.Leu120Arg)
c.1880T>G (p.Leu627Arg)
n.117T>G
c.2009T>G (p.Leu670Arg)
c.2128+5585T>G (n.2128+5585T>G)
n.2217T>G
n.2425T>G
c.1634T>G (p.Leu545Arg)
c.659T>G (p.Leu220Arg)
c.1373T>G (p.Leu458Arg)
n.2169T>G
n.2377T>G
1g.197427542C>ACA422808934CRB1c.2217C>A (p.Leu739=)
c.1098C>A (p.Leu366=)
c.360C>A (p.Leu120=)
c.1881C>A (p.Leu627=)
n.118C>A
c.2010C>A (p.Leu670=)
c.2128+5586C>A (n.2128+5586C>A)
n.2218C>A
n.2426C>A
c.1635C>A (p.Leu545=)
c.660C>A (p.Leu220=)
c.1374C>A (p.Leu458=)
n.2170C>A
n.2378C>A
1g.197427542C>GCA422808936CRB1c.2217C>G (p.Leu739=)
c.1098C>G (p.Leu366=)
c.360C>G (p.Leu120=)
c.1881C>G (p.Leu627=)
n.118C>G
c.2010C>G (p.Leu670=)
c.2128+5586C>G (n.2128+5586C>G)
n.2218C>G
n.2426C>G
c.1635C>G (p.Leu545=)
c.660C>G (p.Leu220=)
c.1374C>G (p.Leu458=)
n.2170C>G
n.2378C>G
1g.197427542C>TCA422808937CRB1c.2217C>T (p.Leu739=)
c.1098C>T (p.Leu366=)
c.360C>T (p.Leu120=)
c.1881C>T (p.Leu627=)
n.118C>T
c.2010C>T (p.Leu670=)
c.2128+5586C>T (n.2128+5586C>T)
n.2218C>T
n.2426C>T
c.1635C>T (p.Leu545=)
c.660C>T (p.Leu220=)
c.1374C>T (p.Leu458=)
n.2170C>T
n.2378C>T
 gnomAD v4
1g.197427543T>ACA344036674CRB1c.2218T>A (p.Ser740Thr)
c.1099T>A (p.Ser367Thr)
c.361T>A (p.Ser121Thr)
c.1882T>A (p.Ser628Thr)
n.119T>A
c.2011T>A (p.Ser671Thr)
c.2128+5587T>A (n.2128+5587T>A)
n.2219T>A
n.2427T>A
c.1636T>A (p.Ser546Thr)
c.661T>A (p.Ser221Thr)
c.1375T>A (p.Ser459Thr)
n.2171T>A
n.2379T>A
1g.197427543T>CCA344036676CRB1c.2218T>C (p.Ser740Pro)
c.1099T>C (p.Ser367Pro)
c.361T>C (p.Ser121Pro)
c.1882T>C (p.Ser628Pro)
n.119T>C
c.2011T>C (p.Ser671Pro)
c.2128+5587T>C (n.2128+5587T>C)
n.2219T>C
n.2427T>C
c.1636T>C (p.Ser546Pro)
c.661T>C (p.Ser221Pro)
c.1375T>C (p.Ser459Pro)
n.2171T>C
n.2379T>C
 gnomAD v4
1g.197427543T>GCA344036678CRB1c.2218T>G (p.Ser740Ala)
c.1099T>G (p.Ser367Ala)
c.361T>G (p.Ser121Ala)
c.1882T>G (p.Ser628Ala)
n.119T>G
c.2011T>G (p.Ser671Ala)
c.2128+5587T>G (n.2128+5587T>G)
n.2219T>G
n.2427T>G
c.1636T>G (p.Ser546Ala)
c.661T>G (p.Ser221Ala)
c.1375T>G (p.Ser459Ala)
n.2171T>G
n.2379T>G
1g.197427543T=CA1218065961CRB1c.2218T= (p.Ser740=)
c.1099T= (p.Ser367=)
c.361T= (p.Ser121=)
c.1882T= (p.Ser628=)
n.119T=
c.2011T= (p.Ser671=)
c.2128+5587T= (n.2128+5587T=)
n.2219T=
n.2427T=
c.1636T= (p.Ser546=)
c.661T= (p.Ser221=)
c.1375T= (p.Ser459=)
n.2171T=
n.2379T=
1g.197427544C>ACA344036681CRB1c.2219C>A (p.Ser740Tyr)
c.1100C>A (p.Ser367Tyr)
c.362C>A (p.Ser121Tyr)
c.1883C>A (p.Ser628Tyr)
n.120C>A
c.2012C>A (p.Ser671Tyr)
c.2128+5588C>A (n.2128+5588C>A)
n.2220C>A
n.2428C>A
c.1637C>A (p.Ser546Tyr)
c.662C>A (p.Ser221Tyr)
c.1376C>A (p.Ser459Tyr)
n.2172C>A
n.2380C>A
1g.197427544C=CA1218065966CRB1c.2219C= (p.Ser740=)
c.1100C= (p.Ser367=)
c.362C= (p.Ser121=)
c.1883C= (p.Ser628=)
n.120C=
c.2012C= (p.Ser671=)
c.2128+5588C= (n.2128+5588C=)
n.2220C=
n.2428C=
c.1637C= (p.Ser546=)
c.662C= (p.Ser221=)
c.1376C= (p.Ser459=)
n.2172C=
n.2380C=
1g.197427544C>GCA344036682CRB1c.2219C>G (p.Ser740Cys)
c.1100C>G (p.Ser367Cys)
c.362C>G (p.Ser121Cys)
c.1883C>G (p.Ser628Cys)
n.120C>G
c.2012C>G (p.Ser671Cys)
c.2128+5588C>G (n.2128+5588C>G)
n.2220C>G
n.2428C>G
c.1637C>G (p.Ser546Cys)
c.662C>G (p.Ser221Cys)
c.1376C>G (p.Ser459Cys)
n.2172C>G
n.2380C>G
1g.197427544C>TCA344036684CRB1c.2219C>T (p.Ser740Phe)
c.1100C>T (p.Ser367Phe)
c.362C>T (p.Ser121Phe)
c.1883C>T (p.Ser628Phe)
n.120C>T
c.2012C>T (p.Ser671Phe)
c.2128+5588C>T (n.2128+5588C>T)
n.2220C>T
n.2428C>T
c.1637C>T (p.Ser546Phe)
c.662C>T (p.Ser221Phe)
c.1376C>T (p.Ser459Phe)
n.2172C>T
n.2380C>T
 ClinVar dbSNP
1g.197427545dupCA645509086CRB1c.2220dup (p.Met741HisfsTer?)
c.1101dup (p.Met368HisfsTer?)
c.363dup (p.Met122HisfsTer?)
c.1884dup (p.Met629HisfsTer?)
n.121dup
c.2013dup (p.Met672HisfsTer?)
c.2128+5589dup (n.2128+5589dup)
n.2221dup
n.2429dup
c.1638dup (p.Met547HisfsTer?)
c.663dup (p.Met222HisfsTer?)
c.1377dup (p.Met460HisfsTer?)
n.2173dup
n.2381dup
 ClinVar dbSNP
1g.197427545delCA2649670114CRB1c.2220del (p.Met741CysfsTer13)
c.1101del (p.Met368CysfsTer13)
c.363del (p.Met122CysfsTer13)
c.1884del (p.Met629CysfsTer13)
n.121del
c.2013del (p.Met672CysfsTer13)
c.2128+5589del (n.2128+5589del)
n.2221del
n.2429del
c.1638del (p.Met547CysfsTer13)
c.663del (p.Met222CysfsTer13)
c.1377del (p.Met460CysfsTer13)
n.2173del
n.2381del
 gnomAD v4
1g.197427545C>ACA422808938CRB1c.2220C>A (p.Ser740=)
c.1101C>A (p.Ser367=)
c.363C>A (p.Ser121=)
c.1884C>A (p.Ser628=)
n.121C>A
c.2013C>A (p.Ser671=)
c.2128+5589C>A (n.2128+5589C>A)
n.2221C>A
n.2429C>A
c.1638C>A (p.Ser546=)
c.663C>A (p.Ser221=)
c.1377C>A (p.Ser459=)
n.2173C>A
n.2381C>A
1g.197427545C>GCA422808939CRB1c.2220C>G (p.Ser740=)
c.1101C>G (p.Ser367=)
c.363C>G (p.Ser121=)
c.1884C>G (p.Ser628=)
n.121C>G
c.2013C>G (p.Ser671=)
c.2128+5589C>G (n.2128+5589C>G)
n.2221C>G
n.2429C>G
c.1638C>G (p.Ser546=)
c.663C>G (p.Ser221=)
c.1377C>G (p.Ser459=)
n.2173C>G
n.2381C>G
1g.197427545C>TCA422808941CRB1c.2220C>T (p.Ser740=)
c.1101C>T (p.Ser367=)
c.363C>T (p.Ser121=)
c.1884C>T (p.Ser628=)
n.121C>T
c.2013C>T (p.Ser671=)
c.2128+5589C>T (n.2128+5589C>T)
n.2221C>T
n.2429C>T
c.1638C>T (p.Ser546=)
c.663C>T (p.Ser221=)
c.1377C>T (p.Ser459=)
n.2173C>T
n.2381C>T
 COSMIC COSMIC
1g.197427546A>CCA344036687CRB1c.2221A>C (p.Met741Leu)
c.1102A>C (p.Met368Leu)
c.364A>C (p.Met122Leu)
c.1885A>C (p.Met629Leu)
n.122A>C
c.2014A>C (p.Met672Leu)
c.2128+5590A>C (n.2128+5590A>C)
n.2222A>C
n.2430A>C
c.1639A>C (p.Met547Leu)
c.664A>C (p.Met222Leu)
c.1378A>C (p.Met460Leu)
n.2174A>C
n.2382A>C
 gnomAD v4
1g.197427546A>GCA344036689CRB1c.2221A>G (p.Met741Val)
c.1102A>G (p.Met368Val)
c.364A>G (p.Met122Val)
c.1885A>G (p.Met629Val)
n.122A>G
c.2014A>G (p.Met672Val)
c.2128+5590A>G (n.2128+5590A>G)
n.2222A>G
n.2430A>G
c.1639A>G (p.Met547Val)
c.664A>G (p.Met222Val)
c.1378A>G (p.Met460Val)
n.2174A>G
n.2382A>G
1g.197427546A>TCA344036691CRB1c.2221A>T (p.Met741Leu)
c.1102A>T (p.Met368Leu)
c.364A>T (p.Met122Leu)
c.1885A>T (p.Met629Leu)
n.122A>T
c.2014A>T (p.Met672Leu)
c.2128+5590A>T (n.2128+5590A>T)
n.2222A>T
n.2430A>T
c.1639A>T (p.Met547Leu)
c.664A>T (p.Met222Leu)
c.1378A>T (p.Met460Leu)
n.2174A>T
n.2382A>T
1g.197427547T>ACA344036697CRB1c.2222T>A (p.Met741Lys)
c.1103T>A (p.Met368Lys)
c.365T>A (p.Met122Lys)
c.1886T>A (p.Met629Lys)
n.123T>A
c.2015T>A (p.Met672Lys)
c.2128+5591T>A (n.2128+5591T>A)
n.2223T>A
n.2431T>A
c.1640T>A (p.Met547Lys)
c.665T>A (p.Met222Lys)
c.1379T>A (p.Met460Lys)
n.2175T>A
n.2383T>A
1g.197427547T>CCA228002CRB1c.2222T>C (p.Met741Thr)
c.1103T>C (p.Met368Thr)
c.365T>C (p.Met122Thr)
c.1886T>C (p.Met629Thr)
n.123T>C
c.2015T>C (p.Met672Thr)
c.2128+5591T>C (n.2128+5591T>C)
n.2223T>C
n.2431T>C
c.1640T>C (p.Met547Thr)
c.665T>C (p.Met222Thr)
c.1379T>C (p.Met460Thr)
n.2175T>C
n.2383T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.197427547T>GCA344036695CRB1c.2222T>G (p.Met741Arg)
c.1103T>G (p.Met368Arg)
c.365T>G (p.Met122Arg)
c.1886T>G (p.Met629Arg)
n.123T>G
c.2015T>G (p.Met672Arg)
c.2128+5591T>G (n.2128+5591T>G)
n.2223T>G
n.2431T>G
c.1640T>G (p.Met547Arg)
c.665T>G (p.Met222Arg)
c.1379T>G (p.Met460Arg)
n.2175T>G
n.2383T>G
1g.197427547T=CA1140762938CRB1c.2222T= (p.Met741=)
c.1103T= (p.Met368=)
c.365T= (p.Met122=)
c.1886T= (p.Met629=)
n.123T=
c.2015T= (p.Met672=)
c.2128+5591T= (n.2128+5591T=)
n.2223T=
n.2431T=
c.1640T= (p.Met547=)
c.665T= (p.Met222=)
c.1379T= (p.Met460=)
n.2175T=
n.2383T=
1g.197427548delCA2649670115CRB1c.2223del (p.Met741IlefsTer13)
c.1104del (p.Met368IlefsTer13)
c.366del (p.Met122IlefsTer13)
c.1887del (p.Met629IlefsTer13)
n.124del
c.2016del (p.Met672IlefsTer13)
c.2128+5592del (n.2128+5592del)
n.2224del
n.2432del
c.1641del (p.Met547IlefsTer13)
c.666del (p.Met222IlefsTer13)
c.1380del (p.Met460IlefsTer13)
n.2176del
n.2384del
 gnomAD v4
1g.197427548G>ACA344036700CRB1c.2223G>A (p.Met741Ile)
c.1104G>A (p.Met368Ile)
c.366G>A (p.Met122Ile)
c.1887G>A (p.Met629Ile)
n.124G>A
c.2016G>A (p.Met672Ile)
c.2128+5592G>A (n.2128+5592G>A)
n.2224G>A
n.2432G>A
c.1641G>A (p.Met547Ile)
c.666G>A (p.Met222Ile)
c.1380G>A (p.Met460Ile)
n.2176G>A
n.2384G>A
 ClinVar dbSNP
1g.197427548G>CCA344036702CRB1c.2223G>C (p.Met741Ile)
c.1104G>C (p.Met368Ile)
c.366G>C (p.Met122Ile)
c.1887G>C (p.Met629Ile)
n.124G>C
c.2016G>C (p.Met672Ile)
c.2128+5592G>C (n.2128+5592G>C)
n.2224G>C
n.2432G>C
c.1641G>C (p.Met547Ile)
c.666G>C (p.Met222Ile)
c.1380G>C (p.Met460Ile)
n.2176G>C
n.2384G>C
1g.197427548G=CA1218065971CRB1c.2223G= (p.Met741=)
c.1104G= (p.Met368=)
c.366G= (p.Met122=)
c.1887G= (p.Met629=)
n.124G=
c.2016G= (p.Met672=)
c.2128+5592G= (n.2128+5592G=)
n.2224G=
n.2432G=
c.1641G= (p.Met547=)
c.666G= (p.Met222=)
c.1380G= (p.Met460=)
n.2176G=
n.2384G=
1g.197427548G>TCA344036704CRB1c.2223G>T (p.Met741Ile)
c.1104G>T (p.Met368Ile)
c.366G>T (p.Met122Ile)
c.1887G>T (p.Met629Ile)
n.124G>T
c.2016G>T (p.Met672Ile)
c.2128+5592G>T (n.2128+5592G>T)
n.2224G>T
n.2432G>T
c.1641G>T (p.Met547Ile)
c.666G>T (p.Met222Ile)
c.1380G>T (p.Met460Ile)
n.2176G>T
n.2384G>T
 COSMIC COSMIC
1g.197427549T>ACA344036706CRB1c.2224T>A (p.Phe742Ile)
c.1105T>A (p.Phe369Ile)
c.367T>A (p.Phe123Ile)
c.1888T>A (p.Phe630Ile)
n.125T>A
c.2017T>A (p.Phe673Ile)
c.2128+5593T>A (n.2128+5593T>A)
n.2225T>A
n.2433T>A
c.1642T>A (p.Phe548Ile)
c.667T>A (p.Phe223Ile)
c.1381T>A (p.Phe461Ile)
n.2177T>A
n.2385T>A
1g.197427549T>CCA344036708CRB1c.2224T>C (p.Phe742Leu)
c.1105T>C (p.Phe369Leu)
c.367T>C (p.Phe123Leu)
c.1888T>C (p.Phe630Leu)
n.125T>C
c.2017T>C (p.Phe673Leu)
c.2128+5593T>C (n.2128+5593T>C)
n.2225T>C
n.2433T>C
c.1642T>C (p.Phe548Leu)
c.667T>C (p.Phe223Leu)
c.1381T>C (p.Phe461Leu)
n.2177T>C
n.2385T>C
 COSMIC
1g.197427549T>GCA344036710CRB1c.2224T>G (p.Phe742Val)
c.1105T>G (p.Phe369Val)
c.367T>G (p.Phe123Val)
c.1888T>G (p.Phe630Val)
n.125T>G
c.2017T>G (p.Phe673Val)
c.2128+5593T>G (n.2128+5593T>G)
n.2225T>G
n.2433T>G
c.1642T>G (p.Phe548Val)
c.667T>G (p.Phe223Val)
c.1381T>G (p.Phe461Val)
n.2177T>G
n.2385T>G
1g.197427550T>ACA344036712CRB1c.2225T>A (p.Phe742Tyr)
c.1106T>A (p.Phe369Tyr)
c.368T>A (p.Phe123Tyr)
c.1889T>A (p.Phe630Tyr)
n.126T>A
c.2018T>A (p.Phe673Tyr)
c.2128+5594T>A (n.2128+5594T>A)
n.2226T>A
n.2434T>A
c.1643T>A (p.Phe548Tyr)
c.668T>A (p.Phe223Tyr)
c.1382T>A (p.Phe461Tyr)
n.2178T>A
n.2386T>A
1g.197427550T>CCA1312077CRB1c.2225T>C (p.Phe742Ser)
c.1106T>C (p.Phe369Ser)
c.368T>C (p.Phe123Ser)
c.1889T>C (p.Phe630Ser)
n.126T>C
c.2018T>C (p.Phe673Ser)
c.2128+5594T>C (n.2128+5594T>C)
n.2226T>C
n.2434T>C
c.1643T>C (p.Phe548Ser)
c.668T>C (p.Phe223Ser)
c.1382T>C (p.Phe461Ser)
n.2178T>C
n.2386T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197427550T>GCA344036716CRB1c.2225T>G (p.Phe742Cys)
c.1106T>G (p.Phe369Cys)
c.368T>G (p.Phe123Cys)
c.1889T>G (p.Phe630Cys)
n.126T>G
c.2018T>G (p.Phe673Cys)
c.2128+5594T>G (n.2128+5594T>G)
n.2226T>G
n.2434T>G
c.1643T>G (p.Phe548Cys)
c.668T>G (p.Phe223Cys)
c.1382T>G (p.Phe461Cys)
n.2178T>G
n.2386T>G
1g.197427550T=CA1141746936CRB1c.2225T= (p.Phe742=)
c.1106T= (p.Phe369=)
c.368T= (p.Phe123=)
c.1889T= (p.Phe630=)
n.126T=
c.2018T= (p.Phe673=)
c.2128+5594T= (n.2128+5594T=)
n.2226T=
n.2434T=
c.1643T= (p.Phe548=)
c.668T= (p.Phe223=)
c.1382T= (p.Phe461=)
n.2178T=
n.2386T=
1g.197427551T>ACA344036718CRB1c.2226T>A (p.Phe742Leu)
c.1107T>A (p.Phe369Leu)
c.369T>A (p.Phe123Leu)
c.1890T>A (p.Phe630Leu)
n.127T>A
c.2019T>A (p.Phe673Leu)
c.2128+5595T>A (n.2128+5595T>A)
n.2227T>A
n.2435T>A
c.1644T>A (p.Phe548Leu)
c.669T>A (p.Phe223Leu)
c.1383T>A (p.Phe461Leu)
n.2179T>A
n.2387T>A
1g.197427551T>CCA422808943CRB1c.2226T>C (p.Phe742=)
c.1107T>C (p.Phe369=)
c.369T>C (p.Phe123=)
c.1890T>C (p.Phe630=)
n.127T>C
c.2019T>C (p.Phe673=)
c.2128+5595T>C (n.2128+5595T>C)
n.2227T>C
n.2435T>C
c.1644T>C (p.Phe548=)
c.669T>C (p.Phe223=)
c.1383T>C (p.Phe461=)
n.2179T>C
n.2387T>C
 ClinVar dbSNP gnomAD v4
1g.197427551T>GCA344036720CRB1c.2226T>G (p.Phe742Leu)
c.1107T>G (p.Phe369Leu)
c.369T>G (p.Phe123Leu)
c.1890T>G (p.Phe630Leu)
n.127T>G
c.2019T>G (p.Phe673Leu)
c.2128+5595T>G (n.2128+5595T>G)
n.2227T>G
n.2435T>G
c.1644T>G (p.Phe548Leu)
c.669T>G (p.Phe223Leu)
c.1383T>G (p.Phe461Leu)
n.2179T>G
n.2387T>G
1g.197427551T=CA1218065973CRB1c.2226T= (p.Phe742=)
c.1107T= (p.Phe369=)
c.369T= (p.Phe123=)
c.1890T= (p.Phe630=)
n.127T=
c.2019T= (p.Phe673=)
c.2128+5595T= (n.2128+5595T=)
n.2227T=
n.2435T=
c.1644T= (p.Phe548=)
c.669T= (p.Phe223=)
c.1383T= (p.Phe461=)
n.2179T=
n.2387T=

Number of alleles fetched