Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197427448T>A | CA2649670108 | CRB1 | c.2129-6T>A (n.2129-6T>A) c.1010-6T>A (n.1010-6T>A) c.272-6T>A (n.272-6T>A) c.1793-6T>A (n.1793-6T>A) n.30-6T>A c.1922-6T>A (n.1922-6T>A) c.2128+5492T>A (n.2128+5492T>A) n.2130-6T>A n.2338-6T>A c.1547-6T>A (n.1547-6T>A) c.572-6T>A (n.572-6T>A) c.1286-6T>A (n.1286-6T>A) n.2082-6T>A n.2290-6T>A | gnomAD v4 |
1 | g.197427448T>C | CA2649670109 | CRB1 | c.2129-6T>C (n.2129-6T>C) c.1010-6T>C (n.1010-6T>C) c.272-6T>C (n.272-6T>C) c.1793-6T>C (n.1793-6T>C) n.30-6T>C c.1922-6T>C (n.1922-6T>C) c.2128+5492T>C (n.2128+5492T>C) n.2130-6T>C n.2338-6T>C c.1547-6T>C (n.1547-6T>C) c.572-6T>C (n.572-6T>C) c.1286-6T>C (n.1286-6T>C) n.2082-6T>C n.2290-6T>C | gnomAD v4 |
1 | g.197427449T>C | CA2649670110 | CRB1 | c.2129-5T>C (n.2129-5T>C) c.1010-5T>C (n.1010-5T>C) c.272-5T>C (n.272-5T>C) c.1793-5T>C (n.1793-5T>C) n.30-5T>C c.1922-5T>C (n.1922-5T>C) c.2128+5493T>C (n.2128+5493T>C) n.2130-5T>C n.2338-5T>C c.1547-5T>C (n.1547-5T>C) c.572-5T>C (n.572-5T>C) c.1286-5T>C (n.1286-5T>C) n.2082-5T>C n.2290-5T>C | gnomAD v4 |
1 | g.197427449T>G | CA2574105525 | CRB1 | c.2129-5T>G (n.2129-5T>G) c.1010-5T>G (n.1010-5T>G) c.272-5T>G (n.272-5T>G) c.1793-5T>G (n.1793-5T>G) n.30-5T>G c.1922-5T>G (n.1922-5T>G) c.2128+5493T>G (n.2128+5493T>G) n.2130-5T>G n.2338-5T>G c.1547-5T>G (n.1547-5T>G) c.572-5T>G (n.572-5T>G) c.1286-5T>G (n.1286-5T>G) n.2082-5T>G n.2290-5T>G | ClinVar |
1 | g.197427450G>A | CA2574105526 | CRB1 | c.2129-4G>A (n.2129-4G>A) c.1010-4G>A (n.1010-4G>A) c.272-4G>A (n.272-4G>A) c.1793-4G>A (n.1793-4G>A) n.30-4G>A c.1922-4G>A (n.1922-4G>A) c.2128+5494G>A (n.2128+5494G>A) n.2130-4G>A n.2338-4G>A c.1547-4G>A (n.1547-4G>A) c.572-4G>A (n.572-4G>A) c.1286-4G>A (n.1286-4G>A) n.2082-4G>A n.2290-4G>A | |
1 | g.197427451A= | CA1218065864 | CRB1 | c.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= | |
1 | g.197427451A>G | CA1312058 | CRB1 | c.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 |
1 | g.197427452A>C | CA344036257 | CRB1 | c.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 |
1 | g.197427452A>G | CA344036259 | CRB1 | c.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 |
1 | g.197427452A>T | CA344036261 | CRB1 | c.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 | |
1 | g.197427453G>A | CA344036264 | CRB1 | c.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 |
1 | g.197427453G>C | CA344036265 | CRB1 | c.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 |
1 | g.197427453G= | CA1218065866 | CRB1 | c.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= | |
1 | g.197427453G>T | CA344036267 | CRB1 | c.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 |
1 | g.197427454A= | CA1142044929 | CRB1 | c.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= | |
1 | g.197427454A>C | CA344036269 | CRB1 | c.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 |
1 | g.197427454A>G | CA344036270 | CRB1 | c.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 |
1 | g.197427454A>T | CA1312059 | CRB1 | c.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 |
1 | g.197427455G>A | CA422808289 | CRB1 | c.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 |
1 | g.197427455G>C | CA344036274 | CRB1 | c.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 |
1 | g.197427455G= | CA1218065869 | CRB1 | c.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= | |
1 | g.197427455G>T | CA344036279 | CRB1 | c.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 |
1 | g.197427456T>A | CA344036282 | CRB1 | c.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 | |
1 | g.197427456T>C | CA344036285 | CRB1 | c.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 |
1 | g.197427456T>G | CA35900268 | CRB1 | c.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 |
1 | g.197427456T= | CA1218065872 | CRB1 | c.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= | |
1 | g.197427457_197427458del | CA2580061815 | CRB1 | c.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 |
1 | g.197427457A= | CA1218065877 | CRB1 | c.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= | |
1 | g.197427457A>C | CA344036288 | CRB1 | c.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 | |
1 | g.197427457A>G | CA344036292 | CRB1 | c.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 |
1 | g.197427457A>T | CA344036290 | CRB1 | c.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 | |
1 | g.197427458T>A | CA344036295 | CRB1 | c.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 |
1 | g.197427458T>C | CA1312060 | CRB1 | c.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 |
1 | g.197427458T>G | CA344036297 | CRB1 | c.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 | |
1 | g.197427458T= | CA1218065881 | CRB1 | c.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= | |
1 | g.197427459G>A | CA344036300 | CRB1 | c.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 |
1 | g.197427459G>C | CA344036302 | CRB1 | c.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 | |
1 | g.197427459G= | CA1218065883 | CRB1 | c.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= | |
1 | g.197427459G>T | CA1312061 | CRB1 | c.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 |
1 | g.197427460T>A | CA344036305 | CRB1 | c.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 | |
1 | g.197427460T>C | CA344036307 | CRB1 | c.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 |
1 | g.197427460T>G | CA344036309 | CRB1 | c.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 | |
1 | g.197427460T= | CA1218065885 | CRB1 | c.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= | |
1 | g.197427461G>A | CA422808791 | CRB1 | c.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 |
1 | g.197427461G>C | CA422808793 | CRB1 | c.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 | |
1 | g.197427461G= | CA1218065887 | CRB1 | c.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= | |
1 | g.197427461G>T | CA422808792 | CRB1 | c.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 | |
1 | g.197427462G>A | CA344036312 | CRB1 | c.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 |
1 | g.197427462G>C | CA344036313 | CRB1 | c.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 | |
1 | g.197427462G>T | CA344036316 | CRB1 | c.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 | |
1 | g.197427463C>A | CA344036322 | CRB1 | c.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 | |
1 | g.197427463C= | CA1218065890 | CRB1 | c.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= | |
1 | g.197427463C>G | CA344036318 | CRB1 | c.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 | |
1 | g.197427463C>T | CA344036321 | CRB1 | c.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 |
1 | g.197427464A>C | CA422808798 | CRB1 | c.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 | |
1 | g.197427464A>G | CA422808799 | CRB1 | c.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 |
1 | g.197427464A>T | CA422808800 | CRB1 | c.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 | |
1 | g.197427465G>A | CA344036325 | CRB1 | c.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 |
1 | g.197427465G>C | CA344036327 | CRB1 | c.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 | |
1 | g.197427465G>T | CA344036328 | CRB1 | c.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 | |
1 | g.197427466G>A | CA344036330 | CRB1 | c.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 |
1 | g.197427466G>C | CA344036332 | CRB1 | c.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 | |
1 | g.197427466G>T | CA344036334 | CRB1 | c.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 |
1 | g.197427467C>A | CA422808802 | CRB1 | c.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 |
1 | g.197427467C= | CA1218065894 | CRB1 | c.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= | |
1 | g.197427467C>G | CA422808803 | CRB1 | c.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 |
1 | g.197427467C>T | CA422808804 | CRB1 | c.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 | |
1 | g.197427468A>C | CA422808805 | CRB1 | c.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 | |
1 | g.197427468A>G | CA344036336 | CRB1 | c.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 |
1 | g.197427468A>T | CA344036338 | CRB1 | c.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 | |
1 | g.197427469G>A | CA344036340 | CRB1 | c.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 |
1 | g.197427469G>C | CA344036343 | CRB1 | c.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 |
1 | g.197427469G>T | CA344036344 | CRB1 | c.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 | |
1 | g.197427470A>C | CA344036346 | CRB1 | c.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 | |
1 | g.197427470A>G | CA422808807 | CRB1 | c.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 | |
1 | g.197427470A>T | CA344036348 | CRB1 | c.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 |
1 | g.197427471T>A | CA344036350 | CRB1 | c.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 | |
1 | g.197427471T>C | CA344036352 | CRB1 | c.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 | |
1 | g.197427471T>G | CA344036354 | CRB1 | c.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 | |
1 | g.197427473del | CA2649670111 | CRB1 | c.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 |
1 | g.197427472T>A | CA344036357 | CRB1 | c.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 | |
1 | g.197427472T>C | CA344036358 | CRB1 | c.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 | |
1 | g.197427472T>G | CA344036360 | CRB1 | c.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 | |
1 | g.197427473T>A | CA344036363 | CRB1 | c.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 | |
1 | g.197427473T>C | CA422808812 | CRB1 | c.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 | |
1 | g.197427473T>G | CA344036362 | CRB1 | c.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 | |
1 | g.197427474G>A | CA344036366 | CRB1 | c.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 | |
1 | g.197427474G>C | CA344036368 | CRB1 | c.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 | |
1 | g.197427474G>T | CA344036371 | CRB1 | c.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 | |
1 | g.197427475del | CA2573131434 | CRB1 | c.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 |
1 | g.197427475G>A | CA344036373 | CRB1 | c.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 |
1 | g.197427475G>C | CA344036375 | CRB1 | c.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 | |
1 | g.197427475G= | CA1218065895 | CRB1 | c.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= | |
1 | g.197427475G>T | CA344036376 | CRB1 | c.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 | |
1 | g.197427476C>A | CA422808817 | CRB1 | c.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 | |
1 | g.197427476C>G | CA422808818 | CRB1 | c.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 | |
1 | g.197427476C>T | CA422808819 | CRB1 | c.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 |
1 | g.197427477C>A | CA344036378 | CRB1 | c.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 | |
1 | g.197427477C>G | CA344036382 | CRB1 | c.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 | |
1 | g.197427477C>T | CA344036380 | CRB1 | c.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 | |
1 | g.197427478A>C | CA344036383 | CRB1 | c.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 | |
1 | g.197427478A>G | CA344036385 | CRB1 | c.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 | |
1 | g.197427478A>T | CA344036387 | CRB1 | c.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 | |
1 | g.197427479G>A | CA422808826 | CRB1 | c.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 | |
1 | g.197427479G>C | CA35900290 | CRB1 | c.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 |
1 | g.197427479G= | CA1218065897 | CRB1 | c.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= | |
1 | g.197427479G>T | CA344036389 | CRB1 | c.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 | |
1 | g.197427480G>A | CA344036391 | CRB1 | c.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 |
1 | g.197427480G>C | CA344036392 | CRB1 | c.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 | |
1 | g.197427480G>T | CA344036395 | CRB1 | c.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 | |
1 | g.197427481A>C | CA344036396 | CRB1 | c.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 | |
1 | g.197427481A>G | CA344036398 | CRB1 | c.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 | |
1 | g.197427481A>T | CA344036400 | CRB1 | c.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 | |
1 | g.197427482T>A | CA344036405 | CRB1 | c.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 | |
1 | g.197427482T>C | CA422808833 | CRB1 | c.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 |
1 | g.197427482T>G | CA344036403 | CRB1 | c.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 | |
1 | g.197427483G>A | CA344036407 | CRB1 | c.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 |
1 | g.197427483G>C | CA344036411 | CRB1 | c.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 | |
1 | g.197427483G= | CA1218065901 | CRB1 | c.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= | |
1 | g.197427483G>T | CA344036410 | CRB1 | c.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 |
1 | g.197427484A= | CA1218065902 | CRB1 | c.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= | |
1 | g.197427484A>C | CA344036414 | CRB1 | c.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 | |
1 | g.197427484A>G | CA344036415 | CRB1 | c.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 |
1 | g.197427484A>T | CA1312062 | CRB1 | c.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 |
1 | g.197427485C>A | CA344036419 | CRB1 | c.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 | |
1 | g.197427485C>G | CA344036420 | CRB1 | c.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 | |
1 | g.197427485C>T | CA422808840 | CRB1 | c.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 |
1 | g.197427485_197427486insA | CA2649670112 | CRB1 | c.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 |
1 | g.197427486T>A | CA344036427 | CRB1 | c.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 | |
1 | g.197427486T>C | CA344036425 | CRB1 | c.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 | |
1 | g.197427486T>G | CA344036423 | CRB1 | c.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 | |
1 | g.197427486_197427487insAA | CA2649670113 | CRB1 | c.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 |
1 | g.197427487C>A | CA344036429 | CRB1 | c.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 | |
1 | g.197427487C>G | CA344036431 | CRB1 | c.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 | |
1 | g.197427487C>T | CA344036433 | CRB1 | c.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 |
1 | g.197427488C>A | CA422808849 | CRB1 | c.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 | |
1 | g.197427488C>G | CA422808845 | CRB1 | c.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 | |
1 | g.197427488C>T | CA422808848 | CRB1 | c.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 | |
1 | g.197427489A>C | CA344036435 | CRB1 | c.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 | |
1 | g.197427489A>G | CA344036438 | CRB1 | c.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 | |
1 | g.197427489A>T | CA344036440 | CRB1 | c.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 | |
1 | g.197427490C>A | CA344036445 | CRB1 | c.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 | |
1 | g.197427490C= | CA1144035601 | CRB1 | c.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= | |
1 | g.197427490C>G | CA344036442 | CRB1 | c.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 |
1 | g.197427490C>T | CA1312063 | CRB1 | c.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 |
1 | g.197427491T>A | CA422808857 | CRB1 | c.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 | |
1 | g.197427491T>C | CA422808858 | CRB1 | c.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 |
1 | g.197427491T>G | CA422808859 | CRB1 | c.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 |
1 | g.197427491T= | CA1218065906 | CRB1 | c.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= | |
1 | g.197427492G>A | CA344036449 | CRB1 | c.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 | |
1 | g.197427492G>C | CA344036450 | CRB1 | c.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 |
1 | g.197427492G>T | CA344036452 | CRB1 | c.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 | |
1 | g.197427493G>A | CA1312064 | CRB1 | c.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 |
1 | g.197427493G>C | CA344036455 | CRB1 | c.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 | |
1 | g.197427493G= | CA1218065908 | CRB1 | c.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= | |
1 | g.197427493G>T | CA344036456 | CRB1 | c.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 |
1 | g.197427494T>A | CA422808865 | CRB1 | c.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 | |
1 | g.197427494T>C | CA422808866 | CRB1 | c.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 | |
1 | g.197427494T>G | CA422808867 | CRB1 | c.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 |
1 | g.197427494T= | CA1218065910 | CRB1 | c.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= | |
1 | g.197427495T>A | CA344036457 | CRB1 | c.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 | |
1 | g.197427495T>C | CA344036458 | CRB1 | c.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 | |
1 | g.197427495T>G | CA344036459 | CRB1 | c.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 | |
1 | g.197427496_197427497del | CA2580061818 | CRB1 | c.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 |
1 | g.197427496A= | CA1218065918 | CRB1 | c.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= | |
1 | g.197427496A>C | CA344036460 | CRB1 | c.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 | |
1 | g.197427496A>G | CA1312065 | CRB1 | c.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 |
1 | g.197427496A>T | CA344036463 | CRB1 | c.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 | |
1 | g.197427497T>A | CA344036465 | CRB1 | c.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 |
1 | g.197427497T>C | CA1312066 | CRB1 | c.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 |
1 | g.197427497T>G | CA344036467 | CRB1 | c.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 | |
1 | g.197427497T= | CA1218065920 | CRB1 | c.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= | |
1 | g.197427498G>A | CA35900337 | CRB1 | c.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 |
1 | g.197427498G>C | CA344036473 | CRB1 | c.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 | |
1 | g.197427498G= | CA1218065922 | CRB1 | c.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= | |
1 | g.197427498G>T | CA344036474 | CRB1 | c.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 | |
1 | g.197427499T>A | CA344036477 | CRB1 | c.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 |
1 | g.197427499T>C | CA344036478 | CRB1 | c.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 |
1 | g.197427499T>G | CA344036479 | CRB1 | c.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 | |
1 | g.197427499T= | CA1218065923 | CRB1 | c.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= | |
1 | g.197427500C>A | CA35900344 | CRB1 | c.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 |
1 | g.197427500C= | CA1218065925 | CRB1 | c.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= | |
1 | g.197427500C>G | CA422808877 | CRB1 | c.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 | |
1 | g.197427500C>T | CA35900356 | CRB1 | c.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 |
1 | g.197427501A>C | CA344036482 | CRB1 | c.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 | |
1 | g.197427501A>G | CA344036484 | CRB1 | c.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 | |
1 | g.197427501A>T | CA344036485 | CRB1 | c.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 | |
1 | g.197427502T>A | CA344036488 | CRB1 | c.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 | |
1 | g.197427502T>C | CA344036490 | CRB1 | c.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 |
1 | g.197427502T>G | CA344036492 | CRB1 | c.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 | |
1 | g.197427503C>A | CA422808884 | CRB1 | c.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 |
1 | g.197427503C>G | CA344036494 | CRB1 | c.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 | |
1 | g.197427503C>T | CA422808885 | CRB1 | c.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 | |
1 | g.197427504T>A | CA344036497 | CRB1 | c.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 | |
1 | g.197427504T>C | CA1312067 | CRB1 | c.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 |
1 | g.197427504T>G | CA344036499 | CRB1 | c.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 | |
1 | g.197427504T= | CA1218065927 | CRB1 | c.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= | |
1 | g.197427505T>A | CA344036502 | CRB1 | c.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 | |
1 | g.197427505T>C | CA344036504 | CRB1 | c.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 | |
1 | g.197427505T>G | CA344036506 | CRB1 | c.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 |
1 | g.197427505T= | CA1218065929 | CRB1 | c.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= | |
1 | g.197427506T>A | CA344036507 | CRB1 | c.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 | |
1 | g.197427506T>C | CA422808891 | CRB1 | c.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 | |
1 | g.197427506T>G | CA344036509 | CRB1 | c.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 | |
1 | g.197427507A>C | CA344036511 | CRB1 | c.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 | |
1 | g.197427507A>G | CA344036512 | CRB1 | c.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 |
1 | g.197427507A>T | CA344036514 | CRB1 | c.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 | |
1 | g.197427508C>A | CA344036517 | CRB1 | c.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 | |
1 | g.197427508C>G | CA344036519 | CRB1 | c.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 | |
1 | g.197427508C>T | CA344036520 | CRB1 | c.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 | |
1 | g.197427509T>A | CA1312068 | CRB1 | c.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 |
1 | g.197427509T>C | CA422808897 | CRB1 | c.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 | |
1 | g.197427509T>G | CA422808896 | CRB1 | c.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 | |
1 | g.197427509T= | CA1218065931 | CRB1 | c.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= | |
1 | g.197427510C>A | CA344036526 | CRB1 | c.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 | |
1 | g.197427510C>G | CA344036525 | CRB1 | c.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 | |
1 | g.197427510C>T | CA344036527 | CRB1 | c.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 | |
1 | g.197427511T>A | CA344036530 | CRB1 | c.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 | |
1 | g.197427511T>C | CA344036532 | CRB1 | c.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 | |
1 | g.197427511T>G | CA344036533 | CRB1 | c.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 | |
1 | g.197427512T>A | CA422808902 | CRB1 | c.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 | |
1 | g.197427512T>C | CA422808903 | CRB1 | c.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 |
1 | g.197427512T>G | CA422808904 | CRB1 | c.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 | |
1 | g.197427512T= | CA1218065933 | CRB1 | c.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= | |
1 | g.197427513G>A | CA344036535 | CRB1 | c.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 |
1 | g.197427513G>C | CA344036538 | CRB1 | c.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 | |
1 | g.197427513G>T | CA344036540 | CRB1 | c.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 | |
1 | g.197427514A>C | CA344036545 | CRB1 | c.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 | |
1 | g.197427514A>G | CA344036542 | CRB1 | c.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 |
1 | g.197427514A>T | CA344036543 | CRB1 | c.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 | |
1 | g.197427515T>A | CA1312069 | CRB1 | c.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 |
1 | g.197427515T>C | CA422808906 | CRB1 | c.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 |
1 | g.197427515T>G | CA344036548 | CRB1 | c.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 | |
1 | g.197427515T= | CA1218065935 | CRB1 | c.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= | |
1 | g.197427516G>A | CA344036551 | CRB1 | c.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 | |
1 | g.197427516G>C | CA344036553 | CRB1 | c.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 | |
1 | g.197427516G>T | CA344036555 | CRB1 | c.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 | |
1 | g.197427520_197427529del | CA2574105527 | CRB1 | c.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 |
1 | g.197427517A>C | CA344036557 | CRB1 | c.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 | |
1 | g.197427517A>G | CA344036561 | CRB1 | c.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 | |
1 | g.197427517A>T | CA344036559 | CRB1 | c.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 | |
1 | g.197427518G>A | CA422808907 | CRB1 | c.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 | |
1 | g.197427518G>C | CA344036563 | CRB1 | c.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 |
1 | g.197427518G= | CA1218065937 | CRB1 | c.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= | |
1 | g.197427518G>T | CA344036564 | CRB1 | c.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 | |
1 | g.197427519A>C | CA344036566 | CRB1 | c.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 | |
1 | g.197427519A>G | CA344036568 | CRB1 | c.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 | |
1 | g.197427519A>T | CA344036570 | CRB1 | c.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 | |
1 | g.197427520G>A | CA344036574 | CRB1 | c.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 | |
1 | g.197427520G>C | CA1312070 | CRB1 | c.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 |
1 | g.197427520G= | CA1218065941 | CRB1 | c.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= | |
1 | g.197427520G>T | CA344036576 | CRB1 | c.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 | |
1 | g.197427521C>A | CA344036578 | CRB1 | c.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 |
1 | g.197427521C= | CA1218065943 | CRB1 | c.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= | |
1 | g.197427521C>G | CA344036579 | CRB1 | c.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 |
1 | g.197427521C>T | CA422808911 | CRB1 | c.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 |
1 | g.197427522T>A | CA344036585 | CRB1 | c.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 | |
1 | g.197427522T>C | CA344036584 | CRB1 | c.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 | |
1 | g.197427522T>G | CA344036582 | CRB1 | c.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 | |
1 | g.197427523A= | CA1218065946 | CRB1 | c.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= | |
1 | g.197427523A>C | CA344036588 | CRB1 | c.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 | |
1 | g.197427523A>G | CA1312071 | CRB1 | c.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 |
1 | g.197427523A>T | CA344036592 | CRB1 | c.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 | |
1 | g.197427524T>A | CA344036594 | CRB1 | c.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 |
1 | g.197427524T>C | CA1312072 | CRB1 | c.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 |
1 | g.197427524T>G | CA344036597 | CRB1 | c.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 | |
1 | g.197427524T= | CA1149104412 | CRB1 | c.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= | |
1 | g.197427525G>A | CA344036599 | CRB1 | c.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 |
1 | g.197427525G>C | CA344036601 | CRB1 | c.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 | |
1 | g.197427525G= | CA1218065950 | CRB1 | c.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= | |
1 | g.197427525G>T | CA344036603 | CRB1 | c.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 | |
1 | g.197427526G>A | CA344036604 | CRB1 | c.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 | |
1 | g.197427526G>C | CA344036606 | CRB1 | c.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 | |
1 | g.197427526G>T | CA344036608 | CRB1 | c.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 | |
1 | g.197427527A>C | CA422808913 | CRB1 | c.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 | |
1 | g.197427527A>G | CA422808915 | CRB1 | c.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 | |
1 | g.197427527A>T | CA422808916 | CRB1 | c.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 | |
1 | g.197427528G>A | CA344036613 | CRB1 | c.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 | |
1 | g.197427528G>C | CA344036615 | CRB1 | c.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 | |
1 | g.197427528G>T | CA344036611 | CRB1 | c.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 | |
1 | g.197427529A>C | CA344036617 | CRB1 | c.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 | |
1 | g.197427529A>G | CA344036618 | CRB1 | c.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 | |
1 | g.197427529A>T | CA344036619 | CRB1 | c.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 | |
1 | g.197427530C>A | CA344036620 | CRB1 | c.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 | |
1 | g.197427530C>G | CA344036622 | CRB1 | c.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 | |
1 | g.197427530C>T | CA422808917 | CRB1 | c.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 |
1 | g.197427531A>C | CA344036627 | CRB1 | c.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 | |
1 | g.197427531A>G | CA344036623 | CRB1 | c.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 | |
1 | g.197427531A>T | CA344036625 | CRB1 | c.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 | |
1 | g.197427532C>A | CA344036629 | CRB1 | c.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 |
1 | g.197427532C>G | CA344036631 | CRB1 | c.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 | |
1 | g.197427532C>T | CA344036632 | CRB1 | c.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 | |
1 | g.197427533C>A | CA422808919 | CRB1 | c.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 | |
1 | g.197427533C= | CA1218065951 | CRB1 | c.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= | |
1 | g.197427533C>G | CA422808920 | CRB1 | c.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 |
1 | g.197427533C>T | CA422808922 | CRB1 | c.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 |
1 | g.197427534A= | CA1141848460 | CRB1 | c.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= | |
1 | g.197427534A>C | CA344036635 | CRB1 | c.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 | |
1 | g.197427534A>G | CA1312073 | CRB1 | c.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 |
1 | g.197427534A>T | CA344036638 | CRB1 | c.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 |
1 | g.197427535T>A | CA1312074 | CRB1 | c.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 |
1 | g.197427535T>C | CA344036643 | CRB1 | c.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 | |
1 | g.197427535T>G | CA344036641 | CRB1 | c.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 |
1 | g.197427535T= | CA1218065957 | CRB1 | c.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= | |
1 | g.197427536C>A | CA422808923 | CRB1 | c.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 | |
1 | g.197427536C>G | CA344036646 | CRB1 | c.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 | |
1 | g.197427536C>T | CA422808926 | CRB1 | c.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 | |
1 | g.197427537A>C | CA344036648 | CRB1 | c.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 | |
1 | g.197427537A>G | CA344036652 | CRB1 | c.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 | |
1 | g.197427537A>T | CA344036649 | CRB1 | c.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 | |
1 | g.197427538G>A | CA344036654 | CRB1 | c.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 |
1 | g.197427538G>C | CA344036656 | CRB1 | c.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 |
1 | g.197427538G= | CA1148482153 | CRB1 | c.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= | |
1 | g.197427538G>T | CA1312075 | CRB1 | c.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 |
1 | g.197427539C>A | CA344036659 | CRB1 | c.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 | |
1 | g.197427539C>G | CA344036660 | CRB1 | c.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 | |
1 | g.197427539C>T | CA422808930 | CRB1 | c.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 | |
1 | g.197427540C>A | CA344036662 | CRB1 | c.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 | |
1 | g.197427540C= | CA1218065958 | CRB1 | c.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= | |
1 | g.197427540C>G | CA344036666 | CRB1 | c.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 | |
1 | g.197427540C>T | CA1312076 | CRB1 | c.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 |
1 | g.197427541T>A | CA344036668 | CRB1 | c.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 | |
1 | g.197427541T>C | CA344036670 | CRB1 | c.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 | |
1 | g.197427541T>G | CA344036672 | CRB1 | c.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 | |
1 | g.197427542C>A | CA422808934 | CRB1 | c.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 | |
1 | g.197427542C>G | CA422808936 | CRB1 | c.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 | |
1 | g.197427542C>T | CA422808937 | CRB1 | c.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 |
1 | g.197427543T>A | CA344036674 | CRB1 | c.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 | |
1 | g.197427543T>C | CA344036676 | CRB1 | c.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 |
1 | g.197427543T>G | CA344036678 | CRB1 | c.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 | |
1 | g.197427543T= | CA1218065961 | CRB1 | c.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= | |
1 | g.197427544C>A | CA344036681 | CRB1 | c.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 | |
1 | g.197427544C= | CA1218065966 | CRB1 | c.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= | |
1 | g.197427544C>G | CA344036682 | CRB1 | c.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 | |
1 | g.197427544C>T | CA344036684 | CRB1 | c.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 |
1 | g.197427545dup | CA645509086 | CRB1 | c.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 |
1 | g.197427545del | CA2649670114 | CRB1 | c.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 |
1 | g.197427545C>A | CA422808938 | CRB1 | c.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 | |
1 | g.197427545C>G | CA422808939 | CRB1 | c.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 | |
1 | g.197427545C>T | CA422808941 | CRB1 | c.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 |
1 | g.197427546A>C | CA344036687 | CRB1 | c.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 |
1 | g.197427546A>G | CA344036689 | CRB1 | c.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 | |
1 | g.197427546A>T | CA344036691 | CRB1 | c.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 | |
1 | g.197427547T>A | CA344036697 | CRB1 | c.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 | |
1 | g.197427547T>C | CA228002 | CRB1 | c.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 |
1 | g.197427547T>G | CA344036695 | CRB1 | c.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 | |
1 | g.197427547T= | CA1140762938 | CRB1 | c.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= | |
1 | g.197427548del | CA2649670115 | CRB1 | c.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 |
1 | g.197427548G>A | CA344036700 | CRB1 | c.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 |
1 | g.197427548G>C | CA344036702 | CRB1 | c.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 | |
1 | g.197427548G= | CA1218065971 | CRB1 | c.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= | |
1 | g.197427548G>T | CA344036704 | CRB1 | c.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 |