Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197427815_197427816del | CA2837994669 | CRB1 | c.2490_2491del (p.Tyr831HisfsTer6) c.1371_1372del (p.Tyr458HisfsTer6) c.633_634del (p.Tyr212HisfsTer6) c.2154_2155del (p.Tyr719HisfsTer6) n.391_392del c.2283_2284del (p.Tyr762HisfsTer6) c.2128+5859_2128+5860del (n.2128+5859_2128+5860del) n.2491_2492del n.2699_2700del c.1908_1909del (p.Tyr637HisfsTer6) c.933_934del (p.Tyr312HisfsTer6) c.1647_1648del (p.Tyr550HisfsTer6) n.2443_2444del n.2651_2652del | |
1 | g.197427816T>A | CA344037743 | CRB1 | c.2491T>A (p.Tyr831Asn) c.1372T>A (p.Tyr458Asn) c.634T>A (p.Tyr212Asn) c.2155T>A (p.Tyr719Asn) n.392T>A c.2284T>A (p.Tyr762Asn) c.2128+5860T>A (n.2128+5860T>A) n.2492T>A n.2700T>A c.1909T>A (p.Tyr637Asn) c.934T>A (p.Tyr312Asn) c.1648T>A (p.Tyr550Asn) n.2444T>A n.2652T>A | |
1 | g.197427816T>C | CA344037746 | CRB1 | c.2491T>C (p.Tyr831His) c.1372T>C (p.Tyr458His) c.634T>C (p.Tyr212His) c.2155T>C (p.Tyr719His) n.392T>C c.2284T>C (p.Tyr762His) c.2128+5860T>C (n.2128+5860T>C) n.2492T>C n.2700T>C c.1909T>C (p.Tyr637His) c.934T>C (p.Tyr312His) c.1648T>C (p.Tyr550His) n.2444T>C n.2652T>C | dbSNP gnomAD v4 |
1 | g.197427816T>G | CA344037748 | CRB1 | c.2491T>G (p.Tyr831Asp) c.1372T>G (p.Tyr458Asp) c.634T>G (p.Tyr212Asp) c.2155T>G (p.Tyr719Asp) n.392T>G c.2284T>G (p.Tyr762Asp) c.2128+5860T>G (n.2128+5860T>G) n.2492T>G n.2700T>G c.1909T>G (p.Tyr637Asp) c.934T>G (p.Tyr312Asp) c.1648T>G (p.Tyr550Asp) n.2444T>G n.2652T>G | |
1 | g.197427816T= | CA1218066305 | CRB1 | c.2491T= (p.Tyr831=) c.1372T= (p.Tyr458=) c.634T= (p.Tyr212=) c.2155T= (p.Tyr719=) n.392T= c.2284T= (p.Tyr762=) c.2128+5860T= (n.2128+5860T=) n.2492T= n.2700T= c.1909T= (p.Tyr637=) c.934T= (p.Tyr312=) c.1648T= (p.Tyr550=) n.2444T= n.2652T= | |
1 | g.197427817A>C | CA344037751 | CRB1 | c.2492A>C (p.Tyr831Ser) c.1373A>C (p.Tyr458Ser) c.635A>C (p.Tyr212Ser) c.2156A>C (p.Tyr719Ser) n.393A>C c.2285A>C (p.Tyr762Ser) c.2128+5861A>C (n.2128+5861A>C) n.2493A>C n.2701A>C c.1910A>C (p.Tyr637Ser) c.935A>C (p.Tyr312Ser) c.1649A>C (p.Tyr550Ser) n.2445A>C n.2653A>C | |
1 | g.197427817A>G | CA344037753 | CRB1 | c.2492A>G (p.Tyr831Cys) c.1373A>G (p.Tyr458Cys) c.635A>G (p.Tyr212Cys) c.2156A>G (p.Tyr719Cys) n.393A>G c.2285A>G (p.Tyr762Cys) c.2128+5861A>G (n.2128+5861A>G) n.2493A>G n.2701A>G c.1910A>G (p.Tyr637Cys) c.935A>G (p.Tyr312Cys) c.1649A>G (p.Tyr550Cys) n.2445A>G n.2653A>G | |
1 | g.197427817A>T | CA344037752 | CRB1 | c.2492A>T (p.Tyr831Phe) c.1373A>T (p.Tyr458Phe) c.635A>T (p.Tyr212Phe) c.2156A>T (p.Tyr719Phe) n.393A>T c.2285A>T (p.Tyr762Phe) c.2128+5861A>T (n.2128+5861A>T) n.2493A>T n.2701A>T c.1910A>T (p.Tyr637Phe) c.935A>T (p.Tyr312Phe) c.1649A>T (p.Tyr550Phe) n.2445A>T n.2653A>T | |
1 | g.197427818C>A | CA344037754 | CRB1 | c.2493C>A (p.Tyr831Ter) c.1374C>A (p.Tyr458Ter) c.636C>A (p.Tyr212Ter) c.2157C>A (p.Tyr719Ter) n.394C>A c.2286C>A (p.Tyr762Ter) c.2128+5862C>A (n.2128+5862C>A) n.2494C>A n.2702C>A c.1911C>A (p.Tyr637Ter) c.936C>A (p.Tyr312Ter) c.1650C>A (p.Tyr550Ter) n.2446C>A n.2654C>A | |
1 | g.197427818C>G | CA344037756 | CRB1 | c.2493C>G (p.Tyr831Ter) c.1374C>G (p.Tyr458Ter) c.636C>G (p.Tyr212Ter) c.2157C>G (p.Tyr719Ter) n.394C>G c.2286C>G (p.Tyr762Ter) c.2128+5862C>G (n.2128+5862C>G) n.2494C>G n.2702C>G c.1911C>G (p.Tyr637Ter) c.936C>G (p.Tyr312Ter) c.1650C>G (p.Tyr550Ter) n.2446C>G n.2654C>G | |
1 | g.197427818C>T | CA422808834 | CRB1 | c.2493C>T (p.Tyr831=) c.1374C>T (p.Tyr458=) c.636C>T (p.Tyr212=) c.2157C>T (p.Tyr719=) n.394C>T c.2286C>T (p.Tyr762=) c.2128+5862C>T (n.2128+5862C>T) n.2494C>T n.2702C>T c.1911C>T (p.Tyr637=) c.936C>T (p.Tyr312=) c.1650C>T (p.Tyr550=) n.2446C>T n.2654C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427819A>C | CA344037759 | CRB1 | c.2494A>C (p.Ile832Leu) c.1375A>C (p.Ile459Leu) c.637A>C (p.Ile213Leu) c.2158A>C (p.Ile720Leu) n.395A>C c.2287A>C (p.Ile763Leu) c.2128+5863A>C (n.2128+5863A>C) n.2495A>C n.2703A>C c.1912A>C (p.Ile638Leu) c.937A>C (p.Ile313Leu) c.1651A>C (p.Ile551Leu) n.2447A>C n.2655A>C | gnomAD v4 |
1 | g.197427819A>G | CA344037760 | CRB1 | c.2494A>G (p.Ile832Val) c.1375A>G (p.Ile459Val) c.637A>G (p.Ile213Val) c.2158A>G (p.Ile720Val) n.395A>G c.2287A>G (p.Ile763Val) c.2128+5863A>G (n.2128+5863A>G) n.2495A>G n.2703A>G c.1912A>G (p.Ile638Val) c.937A>G (p.Ile313Val) c.1651A>G (p.Ile551Val) n.2447A>G n.2655A>G | gnomAD v4 |
1 | g.197427819A>T | CA344037762 | CRB1 | c.2494A>T (p.Ile832Phe) c.1375A>T (p.Ile459Phe) c.637A>T (p.Ile213Phe) c.2158A>T (p.Ile720Phe) n.395A>T c.2287A>T (p.Ile763Phe) c.2128+5863A>T (n.2128+5863A>T) n.2495A>T n.2703A>T c.1912A>T (p.Ile638Phe) c.937A>T (p.Ile313Phe) c.1651A>T (p.Ile551Phe) n.2447A>T n.2655A>T | |
1 | g.197427820T>A | CA344037763 | CRB1 | c.2495T>A (p.Ile832Asn) c.1376T>A (p.Ile459Asn) c.638T>A (p.Ile213Asn) c.2159T>A (p.Ile720Asn) n.396T>A c.2288T>A (p.Ile763Asn) c.2128+5864T>A (n.2128+5864T>A) n.2496T>A n.2704T>A c.1913T>A (p.Ile638Asn) c.938T>A (p.Ile313Asn) c.1652T>A (p.Ile551Asn) n.2448T>A n.2656T>A | |
1 | g.197427820T>C | CA344037770 | CRB1 | c.2495T>C (p.Ile832Thr) c.1376T>C (p.Ile459Thr) c.638T>C (p.Ile213Thr) c.2159T>C (p.Ile720Thr) n.396T>C c.2288T>C (p.Ile763Thr) c.2128+5864T>C (n.2128+5864T>C) n.2496T>C n.2704T>C c.1913T>C (p.Ile638Thr) c.938T>C (p.Ile313Thr) c.1652T>C (p.Ile551Thr) n.2448T>C n.2656T>C | gnomAD v4 |
1 | g.197427820T>G | CA344037773 | CRB1 | c.2495T>G (p.Ile832Ser) c.1376T>G (p.Ile459Ser) c.638T>G (p.Ile213Ser) c.2159T>G (p.Ile720Ser) n.396T>G c.2288T>G (p.Ile763Ser) c.2128+5864T>G (n.2128+5864T>G) n.2496T>G n.2704T>G c.1913T>G (p.Ile638Ser) c.938T>G (p.Ile313Ser) c.1652T>G (p.Ile551Ser) n.2448T>G n.2656T>G | |
1 | g.197427821T>A | CA422808838 | CRB1 | c.2496T>A (p.Ile832=) c.1377T>A (p.Ile459=) c.639T>A (p.Ile213=) c.2160T>A (p.Ile720=) n.397T>A c.2289T>A (p.Ile763=) c.2128+5865T>A (n.2128+5865T>A) n.2497T>A n.2705T>A c.1914T>A (p.Ile638=) c.939T>A (p.Ile313=) c.1653T>A (p.Ile551=) n.2449T>A n.2657T>A | |
1 | g.197427821T>C | CA422808839 | CRB1 | c.2496T>C (p.Ile832=) c.1377T>C (p.Ile459=) c.639T>C (p.Ile213=) c.2160T>C (p.Ile720=) n.397T>C c.2289T>C (p.Ile763=) c.2128+5865T>C (n.2128+5865T>C) n.2497T>C n.2705T>C c.1914T>C (p.Ile638=) c.939T>C (p.Ile313=) c.1653T>C (p.Ile551=) n.2449T>C n.2657T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427821T>G | CA344037776 | CRB1 | c.2496T>G (p.Ile832Met) c.1377T>G (p.Ile459Met) c.639T>G (p.Ile213Met) c.2160T>G (p.Ile720Met) n.397T>G c.2289T>G (p.Ile763Met) c.2128+5865T>G (n.2128+5865T>G) n.2497T>G n.2705T>G c.1914T>G (p.Ile638Met) c.939T>G (p.Ile313Met) c.1653T>G (p.Ile551Met) n.2449T>G n.2657T>G | |
1 | g.197427821T= | CA1218066307 | CRB1 | c.2496T= (p.Ile832=) c.1377T= (p.Ile459=) c.639T= (p.Ile213=) c.2160T= (p.Ile720=) n.397T= c.2289T= (p.Ile763=) c.2128+5865T= (n.2128+5865T=) n.2497T= n.2705T= c.1914T= (p.Ile638=) c.939T= (p.Ile313=) c.1653T= (p.Ile551=) n.2449T= n.2657T= | |
1 | g.197427822G>A | CA344037779 | CRB1 | c.2497G>A (p.Gly833Ser) c.1378G>A (p.Gly460Ser) c.640G>A (p.Gly214Ser) c.2161G>A (p.Gly721Ser) n.398G>A c.2290G>A (p.Gly764Ser) c.2128+5866G>A (n.2128+5866G>A) n.2498G>A n.2706G>A c.1915G>A (p.Gly639Ser) c.940G>A (p.Gly314Ser) c.1654G>A (p.Gly552Ser) n.2450G>A n.2658G>A | |
1 | g.197427822G>C | CA344037792 | CRB1 | c.2497G>C (p.Gly833Arg) c.1378G>C (p.Gly460Arg) c.640G>C (p.Gly214Arg) c.2161G>C (p.Gly721Arg) n.398G>C c.2290G>C (p.Gly764Arg) c.2128+5866G>C (n.2128+5866G>C) n.2498G>C n.2706G>C c.1915G>C (p.Gly639Arg) c.940G>C (p.Gly314Arg) c.1654G>C (p.Gly552Arg) n.2450G>C n.2658G>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427822G= | CA1218066309 | CRB1 | c.2497G= (p.Gly833=) c.1378G= (p.Gly460=) c.640G= (p.Gly214=) c.2161G= (p.Gly721=) n.398G= c.2290G= (p.Gly764=) c.2128+5866G= (n.2128+5866G=) n.2498G= n.2706G= c.1915G= (p.Gly639=) c.940G= (p.Gly314=) c.1654G= (p.Gly552=) n.2450G= n.2658G= | |
1 | g.197427822G>T | CA344037794 | CRB1 | c.2497G>T (p.Gly833Cys) c.1378G>T (p.Gly460Cys) c.640G>T (p.Gly214Cys) c.2161G>T (p.Gly721Cys) n.398G>T c.2290G>T (p.Gly764Cys) c.2128+5866G>T (n.2128+5866G>T) n.2498G>T n.2706G>T c.1915G>T (p.Gly639Cys) c.940G>T (p.Gly314Cys) c.1654G>T (p.Gly552Cys) n.2450G>T n.2658G>T | ClinVar dbSNP COSMIC COSMIC |
1 | g.197427823G>A | CA344037805 | CRB1 | c.2498G>A (p.Gly833Asp) c.1379G>A (p.Gly460Asp) c.641G>A (p.Gly214Asp) c.2162G>A (p.Gly721Asp) n.399G>A c.2291G>A (p.Gly764Asp) c.2128+5867G>A (n.2128+5867G>A) n.2499G>A n.2707G>A c.1916G>A (p.Gly639Asp) c.941G>A (p.Gly314Asp) c.1655G>A (p.Gly552Asp) n.2451G>A n.2659G>A | ClinVar dbSNP |
1 | g.197427823G>C | CA344037798 | CRB1 | c.2498G>C (p.Gly833Ala) c.1379G>C (p.Gly460Ala) c.641G>C (p.Gly214Ala) c.2162G>C (p.Gly721Ala) n.399G>C c.2291G>C (p.Gly764Ala) c.2128+5867G>C (n.2128+5867G>C) n.2499G>C n.2707G>C c.1916G>C (p.Gly639Ala) c.941G>C (p.Gly314Ala) c.1655G>C (p.Gly552Ala) n.2451G>C n.2659G>C | |
1 | g.197427823G= | CA1218066313 | CRB1 | c.2498G= (p.Gly833=) c.1379G= (p.Gly460=) c.641G= (p.Gly214=) c.2162G= (p.Gly721=) n.399G= c.2291G= (p.Gly764=) c.2128+5867G= (n.2128+5867G=) n.2499G= n.2707G= c.1916G= (p.Gly639=) c.941G= (p.Gly314=) c.1655G= (p.Gly552=) n.2451G= n.2659G= | |
1 | g.197427823G>T | CA344037803 | CRB1 | c.2498G>T (p.Gly833Val) c.1379G>T (p.Gly460Val) c.641G>T (p.Gly214Val) c.2162G>T (p.Gly721Val) n.399G>T c.2291G>T (p.Gly764Val) c.2128+5867G>T (n.2128+5867G>T) n.2499G>T n.2707G>T c.1916G>T (p.Gly639Val) c.941G>T (p.Gly314Val) c.1655G>T (p.Gly552Val) n.2451G>T n.2659G>T | |
1 | g.197427824T>A | CA422808841 | CRB1 | c.2499T>A (p.Gly833=) c.1380T>A (p.Gly460=) c.642T>A (p.Gly214=) c.2163T>A (p.Gly721=) n.400T>A c.2292T>A (p.Gly764=) c.2128+5868T>A (n.2128+5868T>A) n.2500T>A n.2708T>A c.1917T>A (p.Gly639=) c.942T>A (p.Gly314=) c.1656T>A (p.Gly552=) n.2452T>A n.2660T>A | |
1 | g.197427824T>C | CA422808842 | CRB1 | c.2499T>C (p.Gly833=) c.1380T>C (p.Gly460=) c.642T>C (p.Gly214=) c.2163T>C (p.Gly721=) n.400T>C c.2292T>C (p.Gly764=) c.2128+5868T>C (n.2128+5868T>C) n.2500T>C n.2708T>C c.1917T>C (p.Gly639=) c.942T>C (p.Gly314=) c.1656T>C (p.Gly552=) n.2452T>C n.2660T>C | |
1 | g.197427824T>G | CA422808843 | CRB1 | c.2499T>G (p.Gly833=) c.1380T>G (p.Gly460=) c.642T>G (p.Gly214=) c.2163T>G (p.Gly721=) n.400T>G c.2292T>G (p.Gly764=) c.2128+5868T>G (n.2128+5868T>G) n.2500T>G n.2708T>G c.1917T>G (p.Gly639=) c.942T>G (p.Gly314=) c.1656T>G (p.Gly552=) n.2452T>G n.2660T>G | |
1 | g.197427825G>A | CA344037808 | CRB1 | c.2500G>A (p.Gly834Ser) c.1381G>A (p.Gly461Ser) c.643G>A (p.Gly215Ser) c.2164G>A (p.Gly722Ser) n.401G>A c.2293G>A (p.Gly765Ser) c.2128+5869G>A (n.2128+5869G>A) n.2501G>A n.2709G>A c.1918G>A (p.Gly640Ser) c.943G>A (p.Gly315Ser) c.1657G>A (p.Gly553Ser) n.2453G>A n.2661G>A | gnomAD v4 |
1 | g.197427825G>C | CA344037811 | CRB1 | c.2500G>C (p.Gly834Arg) c.1381G>C (p.Gly461Arg) c.643G>C (p.Gly215Arg) c.2164G>C (p.Gly722Arg) n.401G>C c.2293G>C (p.Gly765Arg) c.2128+5869G>C (n.2128+5869G>C) n.2501G>C n.2709G>C c.1918G>C (p.Gly640Arg) c.943G>C (p.Gly315Arg) c.1657G>C (p.Gly553Arg) n.2453G>C n.2661G>C | |
1 | g.197427825G>T | CA344037826 | CRB1 | c.2500G>T (p.Gly834Cys) c.1381G>T (p.Gly461Cys) c.643G>T (p.Gly215Cys) c.2164G>T (p.Gly722Cys) n.401G>T c.2293G>T (p.Gly765Cys) c.2128+5869G>T (n.2128+5869G>T) n.2501G>T n.2709G>T c.1918G>T (p.Gly640Cys) c.943G>T (p.Gly315Cys) c.1657G>T (p.Gly553Cys) n.2453G>T n.2661G>T | |
1 | g.197427826G>A | CA344037829 | CRB1 | c.2501G>A (p.Gly834Asp) c.1382G>A (p.Gly461Asp) c.644G>A (p.Gly215Asp) c.2165G>A (p.Gly722Asp) n.402G>A c.2294G>A (p.Gly765Asp) c.2128+5870G>A (n.2128+5870G>A) n.2502G>A n.2710G>A c.1919G>A (p.Gly640Asp) c.944G>A (p.Gly315Asp) c.1658G>A (p.Gly553Asp) n.2454G>A n.2662G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427826G>C | CA344037832 | CRB1 | c.2501G>C (p.Gly834Ala) c.1382G>C (p.Gly461Ala) c.644G>C (p.Gly215Ala) c.2165G>C (p.Gly722Ala) n.402G>C c.2294G>C (p.Gly765Ala) c.2128+5870G>C (n.2128+5870G>C) n.2502G>C n.2710G>C c.1919G>C (p.Gly640Ala) c.944G>C (p.Gly315Ala) c.1658G>C (p.Gly553Ala) n.2454G>C n.2662G>C | |
1 | g.197427826G= | CA1218066318 | CRB1 | c.2501G= (p.Gly834=) c.1382G= (p.Gly461=) c.644G= (p.Gly215=) c.2165G= (p.Gly722=) n.402G= c.2294G= (p.Gly765=) c.2128+5870G= (n.2128+5870G=) n.2502G= n.2710G= c.1919G= (p.Gly640=) c.944G= (p.Gly315=) c.1658G= (p.Gly553=) n.2454G= n.2662G= | |
1 | g.197427826G>T | CA344037834 | CRB1 | c.2501G>T (p.Gly834Val) c.1382G>T (p.Gly461Val) c.644G>T (p.Gly215Val) c.2165G>T (p.Gly722Val) n.402G>T c.2294G>T (p.Gly765Val) c.2128+5870G>T (n.2128+5870G>T) n.2502G>T n.2710G>T c.1919G>T (p.Gly640Val) c.944G>T (p.Gly315Val) c.1658G>T (p.Gly553Val) n.2454G>T n.2662G>T | |
1 | g.197427826_197427830delinsGCCTA | CA1218066319 | CRB1 | c.2501_2505delinsGCCTA (p.Gly834=) c.1382_1386delinsGCCTA (p.Gly461=) c.644_648delinsGCCTA (p.Gly215=) c.2165_2169delinsGCCTA (p.Gly722=) n.402_406delinsGCCTA c.2294_2298delinsGCCTA (p.Gly765=) c.2128+5870_2128+5874delinsGCCTA (n.2128+5870_2128+5874delinsGCCTA) n.2502_2506delinsGCCTA n.2710_2714delinsGCCTA c.1919_1923delinsGCCTA (p.Gly640=) c.944_948delinsGCCTA (p.Gly315=) c.1658_1662delinsGCCTA (p.Gly553=) n.2454_2458delinsGCCTA n.2662_2666delinsGCCTA | |
1 | g.197427827C>A | CA422808844 | CRB1 | c.2502C>A (p.Gly834=) c.1383C>A (p.Gly461=) c.645C>A (p.Gly215=) c.2166C>A (p.Gly722=) n.403C>A c.2295C>A (p.Gly765=) c.2128+5871C>A (n.2128+5871C>A) n.2503C>A n.2711C>A c.1920C>A (p.Gly640=) c.945C>A (p.Gly315=) c.1659C>A (p.Gly553=) n.2455C>A n.2663C>A | |
1 | g.197427827C>G | CA422808846 | CRB1 | c.2502C>G (p.Gly834=) c.1383C>G (p.Gly461=) c.645C>G (p.Gly215=) c.2166C>G (p.Gly722=) n.403C>G c.2295C>G (p.Gly765=) c.2128+5871C>G (n.2128+5871C>G) n.2503C>G n.2711C>G c.1920C>G (p.Gly640=) c.945C>G (p.Gly315=) c.1659C>G (p.Gly553=) n.2455C>G n.2663C>G | |
1 | g.197427827C>T | CA422808847 | CRB1 | c.2502C>T (p.Gly834=) c.1383C>T (p.Gly461=) c.645C>T (p.Gly215=) c.2166C>T (p.Gly722=) n.403C>T c.2295C>T (p.Gly765=) c.2128+5871C>T (n.2128+5871C>T) n.2503C>T n.2711C>T c.1920C>T (p.Gly640=) c.945C>T (p.Gly315=) c.1659C>T (p.Gly553=) n.2455C>T n.2663C>T | gnomAD v4 |
1 | g.197427830_197427833del | CA1312129 | CRB1 | c.2505_2508del (p.Pro836ThrfsTer19) c.1386_1389del (p.Pro463ThrfsTer19) c.648_651del (p.Pro217ThrfsTer19) c.2169_2172del (p.Pro724ThrfsTer19) n.406_409del c.2298_2301del (p.Pro767ThrfsTer19) c.2128+5874_2128+5877del (n.2128+5874_2128+5877del) n.2506_2509del n.2714_2717del c.1923_1926del (p.Pro642ThrfsTer19) c.948_951del (p.Pro317ThrfsTer19) c.1662_1665del (p.Pro555ThrfsTer19) n.2458_2461del n.2666_2669del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427828C>A | CA344037846 | CRB1 | c.2503C>A (p.Leu835Ile) c.1384C>A (p.Leu462Ile) c.646C>A (p.Leu216Ile) c.2167C>A (p.Leu723Ile) n.404C>A c.2296C>A (p.Leu766Ile) c.2128+5872C>A (n.2128+5872C>A) n.2504C>A n.2712C>A c.1921C>A (p.Leu641Ile) c.946C>A (p.Leu316Ile) c.1660C>A (p.Leu554Ile) n.2456C>A n.2664C>A | |
1 | g.197427828C>G | CA344037843 | CRB1 | c.2503C>G (p.Leu835Val) c.1384C>G (p.Leu462Val) c.646C>G (p.Leu216Val) c.2167C>G (p.Leu723Val) n.404C>G c.2296C>G (p.Leu766Val) c.2128+5872C>G (n.2128+5872C>G) n.2504C>G n.2712C>G c.1921C>G (p.Leu641Val) c.946C>G (p.Leu316Val) c.1660C>G (p.Leu554Val) n.2456C>G n.2664C>G | |
1 | g.197427828C>T | CA422808851 | CRB1 | c.2503C>T (p.Leu835=) c.1384C>T (p.Leu462=) c.646C>T (p.Leu216=) c.2167C>T (p.Leu723=) n.404C>T c.2296C>T (p.Leu766=) c.2128+5872C>T (n.2128+5872C>T) n.2504C>T n.2712C>T c.1921C>T (p.Leu641=) c.946C>T (p.Leu316=) c.1660C>T (p.Leu554=) n.2456C>T n.2664C>T | |
1 | g.197427829T>A | CA344037848 | CRB1 | c.2504T>A (p.Leu835Gln) c.1385T>A (p.Leu462Gln) c.647T>A (p.Leu216Gln) c.2168T>A (p.Leu723Gln) n.405T>A c.2297T>A (p.Leu766Gln) c.2128+5873T>A (n.2128+5873T>A) n.2505T>A n.2713T>A c.1922T>A (p.Leu641Gln) c.947T>A (p.Leu316Gln) c.1661T>A (p.Leu554Gln) n.2457T>A n.2665T>A | |
1 | g.197427829T>C | CA344037851 | CRB1 | c.2504T>C (p.Leu835Pro) c.1385T>C (p.Leu462Pro) c.647T>C (p.Leu216Pro) c.2168T>C (p.Leu723Pro) n.405T>C c.2297T>C (p.Leu766Pro) c.2128+5873T>C (n.2128+5873T>C) n.2505T>C n.2713T>C c.1922T>C (p.Leu641Pro) c.947T>C (p.Leu316Pro) c.1661T>C (p.Leu554Pro) n.2457T>C n.2665T>C | gnomAD v4 |
1 | g.197427829T>G | CA344037854 | CRB1 | c.2504T>G (p.Leu835Arg) c.1385T>G (p.Leu462Arg) c.647T>G (p.Leu216Arg) c.2168T>G (p.Leu723Arg) n.405T>G c.2297T>G (p.Leu766Arg) c.2128+5873T>G (n.2128+5873T>G) n.2505T>G n.2713T>G c.1922T>G (p.Leu641Arg) c.947T>G (p.Leu316Arg) c.1661T>G (p.Leu554Arg) n.2457T>G n.2665T>G | |
1 | g.197427830A= | CA1218066322 | CRB1 | c.2505A= (p.Leu835=) c.1386A= (p.Leu462=) c.648A= (p.Leu216=) c.2169A= (p.Leu723=) n.406A= c.2298A= (p.Leu766=) c.2128+5874A= (n.2128+5874A=) n.2506A= n.2714A= c.1923A= (p.Leu641=) c.948A= (p.Leu316=) c.1662A= (p.Leu554=) n.2458A= n.2666A= | |
1 | g.197427830A>C | CA422808854 | CRB1 | c.2505A>C (p.Leu835=) c.1386A>C (p.Leu462=) c.648A>C (p.Leu216=) c.2169A>C (p.Leu723=) n.406A>C c.2298A>C (p.Leu766=) c.2128+5874A>C (n.2128+5874A>C) n.2506A>C n.2714A>C c.1923A>C (p.Leu641=) c.948A>C (p.Leu316=) c.1662A>C (p.Leu554=) n.2458A>C n.2666A>C | |
1 | g.197427830A>G | CA422808855 | CRB1 | c.2505A>G (p.Leu835=) c.1386A>G (p.Leu462=) c.648A>G (p.Leu216=) c.2169A>G (p.Leu723=) n.406A>G c.2298A>G (p.Leu766=) c.2128+5874A>G (n.2128+5874A>G) n.2506A>G n.2714A>G c.1923A>G (p.Leu641=) c.948A>G (p.Leu316=) c.1662A>G (p.Leu554=) n.2458A>G n.2666A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427830A>T | CA422808856 | CRB1 | c.2505A>T (p.Leu835=) c.1386A>T (p.Leu462=) c.648A>T (p.Leu216=) c.2169A>T (p.Leu723=) n.406A>T c.2298A>T (p.Leu766=) c.2128+5874A>T (n.2128+5874A>T) n.2506A>T n.2714A>T c.1923A>T (p.Leu641=) c.948A>T (p.Leu316=) c.1662A>T (p.Leu554=) n.2458A>T n.2666A>T | |
1 | g.197427831C>A | CA1312130 | CRB1 | c.2506C>A (p.Pro836Thr) c.1387C>A (p.Pro463Thr) c.649C>A (p.Pro217Thr) c.2170C>A (p.Pro724Thr) n.407C>A c.2299C>A (p.Pro767Thr) c.2128+5875C>A (n.2128+5875C>A) n.2507C>A n.2715C>A c.1924C>A (p.Pro642Thr) c.949C>A (p.Pro317Thr) c.1663C>A (p.Pro555Thr) n.2459C>A n.2667C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427831C= | CA1141533191 | CRB1 | c.2506C= (p.Pro836=) c.1387C= (p.Pro463=) c.649C= (p.Pro217=) c.2170C= (p.Pro724=) n.407C= c.2299C= (p.Pro767=) c.2128+5875C= (n.2128+5875C=) n.2507C= n.2715C= c.1924C= (p.Pro642=) c.949C= (p.Pro317=) c.1663C= (p.Pro555=) n.2459C= n.2667C= | |
1 | g.197427831C>G | CA344037858 | CRB1 | c.2506C>G (p.Pro836Ala) c.1387C>G (p.Pro463Ala) c.649C>G (p.Pro217Ala) c.2170C>G (p.Pro724Ala) n.407C>G c.2299C>G (p.Pro767Ala) c.2128+5875C>G (n.2128+5875C>G) n.2507C>G n.2715C>G c.1924C>G (p.Pro642Ala) c.949C>G (p.Pro317Ala) c.1663C>G (p.Pro555Ala) n.2459C>G n.2667C>G | |
1 | g.197427831C>T | CA344037860 | CRB1 | c.2506C>T (p.Pro836Ser) c.1387C>T (p.Pro463Ser) c.649C>T (p.Pro217Ser) c.2170C>T (p.Pro724Ser) n.407C>T c.2299C>T (p.Pro767Ser) c.2128+5875C>T (n.2128+5875C>T) n.2507C>T n.2715C>T c.1924C>T (p.Pro642Ser) c.949C>T (p.Pro317Ser) c.1663C>T (p.Pro555Ser) n.2459C>T n.2667C>T | |
1 | g.197427832C>A | CA344037864 | CRB1 | c.2507C>A (p.Pro836His) c.1388C>A (p.Pro463His) c.650C>A (p.Pro217His) c.2171C>A (p.Pro724His) n.408C>A c.2300C>A (p.Pro767His) c.2128+5876C>A (n.2128+5876C>A) n.2508C>A n.2716C>A c.1925C>A (p.Pro642His) c.950C>A (p.Pro317His) c.1664C>A (p.Pro555His) n.2460C>A n.2668C>A | |
1 | g.197427832C>G | CA344037869 | CRB1 | c.2507C>G (p.Pro836Arg) c.1388C>G (p.Pro463Arg) c.650C>G (p.Pro217Arg) c.2171C>G (p.Pro724Arg) n.408C>G c.2300C>G (p.Pro767Arg) c.2128+5876C>G (n.2128+5876C>G) n.2508C>G n.2716C>G c.1925C>G (p.Pro642Arg) c.950C>G (p.Pro317Arg) c.1664C>G (p.Pro555Arg) n.2460C>G n.2668C>G | |
1 | g.197427832C>T | CA344037867 | CRB1 | c.2507C>T (p.Pro836Leu) c.1388C>T (p.Pro463Leu) c.650C>T (p.Pro217Leu) c.2171C>T (p.Pro724Leu) n.408C>T c.2300C>T (p.Pro767Leu) c.2128+5876C>T (n.2128+5876C>T) n.2508C>T n.2716C>T c.1925C>T (p.Pro642Leu) c.950C>T (p.Pro317Leu) c.1664C>T (p.Pro555Leu) n.2460C>T n.2668C>T | |
1 | g.197427833T>A | CA422808861 | CRB1 | c.2508T>A (p.Pro836=) c.1389T>A (p.Pro463=) c.651T>A (p.Pro217=) c.2172T>A (p.Pro724=) n.409T>A c.2301T>A (p.Pro767=) c.2128+5877T>A (n.2128+5877T>A) n.2509T>A n.2717T>A c.1926T>A (p.Pro642=) c.951T>A (p.Pro317=) c.1665T>A (p.Pro555=) n.2461T>A n.2669T>A | dbSNP |
1 | g.197427833T>C | CA422808863 | CRB1 | c.2508T>C (p.Pro836=) c.1389T>C (p.Pro463=) c.651T>C (p.Pro217=) c.2172T>C (p.Pro724=) n.409T>C c.2301T>C (p.Pro767=) c.2128+5877T>C (n.2128+5877T>C) n.2509T>C n.2717T>C c.1926T>C (p.Pro642=) c.951T>C (p.Pro317=) c.1665T>C (p.Pro555=) n.2461T>C n.2669T>C | |
1 | g.197427833T>G | CA422808862 | CRB1 | c.2508T>G (p.Pro836=) c.1389T>G (p.Pro463=) c.651T>G (p.Pro217=) c.2172T>G (p.Pro724=) n.409T>G c.2301T>G (p.Pro767=) c.2128+5877T>G (n.2128+5877T>G) n.2509T>G n.2717T>G c.1926T>G (p.Pro642=) c.951T>G (p.Pro317=) c.1665T>G (p.Pro555=) n.2461T>G n.2669T>G | |
1 | g.197427834G>A | CA344037870 | CRB1 | c.2509G>A (p.Asp837Asn) c.1390G>A (p.Asp464Asn) c.652G>A (p.Asp218Asn) c.2173G>A (p.Asp725Asn) n.410G>A c.2302G>A (p.Asp768Asn) c.2128+5878G>A (n.2128+5878G>A) n.2510G>A n.2718G>A c.1927G>A (p.Asp643Asn) c.952G>A (p.Asp318Asn) c.1666G>A (p.Asp556Asn) n.2462G>A n.2670G>A | |
1 | g.197427834G>C | CA228011 | CRB1 | c.2509G>C (p.Asp837His) c.1390G>C (p.Asp464His) c.652G>C (p.Asp218His) c.2173G>C (p.Asp725His) n.410G>C c.2302G>C (p.Asp768His) c.2128+5878G>C (n.2128+5878G>C) n.2510G>C n.2718G>C c.1927G>C (p.Asp643His) c.952G>C (p.Asp318His) c.1666G>C (p.Asp556His) n.2462G>C n.2670G>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427834G= | CA1140762945 | CRB1 | c.2509G= (p.Asp837=) c.1390G= (p.Asp464=) c.652G= (p.Asp218=) c.2173G= (p.Asp725=) n.410G= c.2302G= (p.Asp768=) c.2128+5878G= (n.2128+5878G=) n.2510G= n.2718G= c.1927G= (p.Asp643=) c.952G= (p.Asp318=) c.1666G= (p.Asp556=) n.2462G= n.2670G= | |
1 | g.197427834G>T | CA344037873 | CRB1 | c.2509G>T (p.Asp837Tyr) c.1390G>T (p.Asp464Tyr) c.652G>T (p.Asp218Tyr) c.2173G>T (p.Asp725Tyr) n.410G>T c.2302G>T (p.Asp768Tyr) c.2128+5878G>T (n.2128+5878G>T) n.2510G>T n.2718G>T c.1927G>T (p.Asp643Tyr) c.952G>T (p.Asp318Tyr) c.1666G>T (p.Asp556Tyr) n.2462G>T n.2670G>T | |
1 | g.197427835A>C | CA344037874 | CRB1 | c.2510A>C (p.Asp837Ala) c.1391A>C (p.Asp464Ala) c.653A>C (p.Asp218Ala) c.2174A>C (p.Asp725Ala) n.411A>C c.2303A>C (p.Asp768Ala) c.2128+5879A>C (n.2128+5879A>C) n.2511A>C n.2719A>C c.1928A>C (p.Asp643Ala) c.953A>C (p.Asp318Ala) c.1667A>C (p.Asp556Ala) n.2463A>C n.2671A>C | |
1 | g.197427835A>G | CA344037876 | CRB1 | c.2510A>G (p.Asp837Gly) c.1391A>G (p.Asp464Gly) c.653A>G (p.Asp218Gly) c.2174A>G (p.Asp725Gly) n.411A>G c.2303A>G (p.Asp768Gly) c.2128+5879A>G (n.2128+5879A>G) n.2511A>G n.2719A>G c.1928A>G (p.Asp643Gly) c.953A>G (p.Asp318Gly) c.1667A>G (p.Asp556Gly) n.2463A>G n.2671A>G | |
1 | g.197427835A>T | CA344037879 | CRB1 | c.2510A>T (p.Asp837Val) c.1391A>T (p.Asp464Val) c.653A>T (p.Asp218Val) c.2174A>T (p.Asp725Val) n.411A>T c.2303A>T (p.Asp768Val) c.2128+5879A>T (n.2128+5879A>T) n.2511A>T n.2719A>T c.1928A>T (p.Asp643Val) c.953A>T (p.Asp318Val) c.1667A>T (p.Asp556Val) n.2463A>T n.2671A>T | |
1 | g.197427836C>A | CA344037895 | CRB1 | c.2511C>A (p.Asp837Glu) c.1392C>A (p.Asp464Glu) c.654C>A (p.Asp218Glu) c.2175C>A (p.Asp725Glu) n.412C>A c.2304C>A (p.Asp768Glu) c.2128+5880C>A (n.2128+5880C>A) n.2512C>A n.2720C>A c.1929C>A (p.Asp643Glu) c.954C>A (p.Asp318Glu) c.1668C>A (p.Asp556Glu) n.2464C>A n.2672C>A | gnomAD v4 |
1 | g.197427836C= | CA1218066329 | CRB1 | c.2511C= (p.Asp837=) c.1392C= (p.Asp464=) c.654C= (p.Asp218=) c.2175C= (p.Asp725=) n.412C= c.2304C= (p.Asp768=) c.2128+5880C= (n.2128+5880C=) n.2512C= n.2720C= c.1929C= (p.Asp643=) c.954C= (p.Asp318=) c.1668C= (p.Asp556=) n.2464C= n.2672C= | |
1 | g.197427836C>G | CA344037897 | CRB1 | c.2511C>G (p.Asp837Glu) c.1392C>G (p.Asp464Glu) c.654C>G (p.Asp218Glu) c.2175C>G (p.Asp725Glu) n.412C>G c.2304C>G (p.Asp768Glu) c.2128+5880C>G (n.2128+5880C>G) n.2512C>G n.2720C>G c.1929C>G (p.Asp643Glu) c.954C>G (p.Asp318Glu) c.1668C>G (p.Asp556Glu) n.2464C>G n.2672C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427836C>T | CA422808864 | CRB1 | c.2511C>T (p.Asp837=) c.1392C>T (p.Asp464=) c.654C>T (p.Asp218=) c.2175C>T (p.Asp725=) n.412C>T c.2304C>T (p.Asp768=) c.2128+5880C>T (n.2128+5880C>T) n.2512C>T n.2720C>T c.1929C>T (p.Asp643=) c.954C>T (p.Asp318=) c.1668C>T (p.Asp556=) n.2464C>T n.2672C>T | |
1 | g.197427837A>C | CA344037901 | CRB1 | c.2512A>C (p.Lys838Gln) c.1393A>C (p.Lys465Gln) c.655A>C (p.Lys219Gln) c.2176A>C (p.Lys726Gln) n.413A>C c.2305A>C (p.Lys769Gln) c.2128+5881A>C (n.2128+5881A>C) n.2513A>C n.2721A>C c.1930A>C (p.Lys644Gln) c.955A>C (p.Lys319Gln) c.1669A>C (p.Lys557Gln) n.2465A>C n.2673A>C | gnomAD v4 |
1 | g.197427837A>G | CA344037904 | CRB1 | c.2512A>G (p.Lys838Glu) c.1393A>G (p.Lys465Glu) c.655A>G (p.Lys219Glu) c.2176A>G (p.Lys726Glu) n.413A>G c.2305A>G (p.Lys769Glu) c.2128+5881A>G (n.2128+5881A>G) n.2513A>G n.2721A>G c.1930A>G (p.Lys644Glu) c.955A>G (p.Lys319Glu) c.1669A>G (p.Lys557Glu) n.2465A>G n.2673A>G | |
1 | g.197427837A>T | CA344037906 | CRB1 | c.2512A>T (p.Lys838Ter) c.1393A>T (p.Lys465Ter) c.655A>T (p.Lys219Ter) c.2176A>T (p.Lys726Ter) n.413A>T c.2305A>T (p.Lys769Ter) c.2128+5881A>T (n.2128+5881A>T) n.2513A>T n.2721A>T c.1930A>T (p.Lys644Ter) c.955A>T (p.Lys319Ter) c.1669A>T (p.Lys557Ter) n.2465A>T n.2673A>T | gnomAD v4 |
1 | g.197427838A>C | CA344037907 | CRB1 | c.2513A>C (p.Lys838Thr) c.1394A>C (p.Lys465Thr) c.656A>C (p.Lys219Thr) c.2177A>C (p.Lys726Thr) c.2306A>C (p.Lys769Thr) c.2128+5882A>C (n.2128+5882A>C) n.2514A>C n.2722A>C c.1931A>C (p.Lys644Thr) c.956A>C (p.Lys319Thr) c.1670A>C (p.Lys557Thr) n.2466A>C n.2674A>C | |
1 | g.197427838A>G | CA344037909 | CRB1 | c.2513A>G (p.Lys838Arg) c.1394A>G (p.Lys465Arg) c.656A>G (p.Lys219Arg) c.2177A>G (p.Lys726Arg) c.2306A>G (p.Lys769Arg) c.2128+5882A>G (n.2128+5882A>G) n.2514A>G n.2722A>G c.1931A>G (p.Lys644Arg) c.956A>G (p.Lys319Arg) c.1670A>G (p.Lys557Arg) n.2466A>G n.2674A>G | |
1 | g.197427838A>T | CA344037908 | CRB1 | c.2513A>T (p.Lys838Met) c.1394A>T (p.Lys465Met) c.656A>T (p.Lys219Met) c.2177A>T (p.Lys726Met) c.2306A>T (p.Lys769Met) c.2128+5882A>T (n.2128+5882A>T) n.2514A>T n.2722A>T c.1931A>T (p.Lys644Met) c.956A>T (p.Lys319Met) c.1670A>T (p.Lys557Met) n.2466A>T n.2674A>T | |
1 | g.197427839G>A | CA422808870 | CRB1 | c.2514G>A (p.Lys838=) c.1395G>A (p.Lys465=) c.657G>A (p.Lys219=) c.2178G>A (p.Lys726=) c.2307G>A (p.Lys769=) c.2128+5883G>A (n.2128+5883G>A) n.2515G>A n.2723G>A c.1932G>A (p.Lys644=) c.957G>A (p.Lys319=) c.1671G>A (p.Lys557=) n.2467G>A n.2675G>A | |
1 | g.197427839G>C | CA344037911 | CRB1 | c.2514G>C (p.Lys838Asn) c.1395G>C (p.Lys465Asn) c.657G>C (p.Lys219Asn) c.2178G>C (p.Lys726Asn) c.2307G>C (p.Lys769Asn) c.2128+5883G>C (n.2128+5883G>C) n.2515G>C n.2723G>C c.1932G>C (p.Lys644Asn) c.957G>C (p.Lys319Asn) c.1671G>C (p.Lys557Asn) n.2467G>C n.2675G>C | gnomAD v4 |
1 | g.197427839G>T | CA344037913 | CRB1 | c.2514G>T (p.Lys838Asn) c.1395G>T (p.Lys465Asn) c.657G>T (p.Lys219Asn) c.2178G>T (p.Lys726Asn) c.2307G>T (p.Lys769Asn) c.2128+5883G>T (n.2128+5883G>T) n.2515G>T n.2723G>T c.1932G>T (p.Lys644Asn) c.957G>T (p.Lys319Asn) c.1671G>T (p.Lys557Asn) n.2467G>T n.2675G>T | |
1 | g.197427840C>A | CA344037915 | CRB1 | c.2515C>A (p.Gln839Lys) c.1396C>A (p.Gln466Lys) c.658C>A (p.Gln220Lys) c.2179C>A (p.Gln727Lys) c.2308C>A (p.Gln770Lys) c.2128+5884C>A (n.2128+5884C>A) n.2516C>A n.2724C>A c.1933C>A (p.Gln645Lys) c.958C>A (p.Gln320Lys) c.1672C>A (p.Gln558Lys) n.2468C>A n.2676C>A | gnomAD v4 COSMIC COSMIC |
1 | g.197427840C= | CA1218066331 | CRB1 | c.2515C= (p.Gln839=) c.1396C= (p.Gln466=) c.658C= (p.Gln220=) c.2179C= (p.Gln727=) c.2308C= (p.Gln770=) c.2128+5884C= (n.2128+5884C=) n.2516C= n.2724C= c.1933C= (p.Gln645=) c.958C= (p.Gln320=) c.1672C= (p.Gln558=) n.2468C= n.2676C= | |
1 | g.197427840C>G | CA344037924 | CRB1 | c.2515C>G (p.Gln839Glu) c.1396C>G (p.Gln466Glu) c.658C>G (p.Gln220Glu) c.2179C>G (p.Gln727Glu) c.2308C>G (p.Gln770Glu) c.2128+5884C>G (n.2128+5884C>G) n.2516C>G n.2724C>G c.1933C>G (p.Gln645Glu) c.958C>G (p.Gln320Glu) c.1672C>G (p.Gln558Glu) n.2468C>G n.2676C>G | dbSNP gnomAD v2 |
1 | g.197427840C>T | CA344037928 | CRB1 | c.2515C>T (p.Gln839Ter) c.1396C>T (p.Gln466Ter) c.658C>T (p.Gln220Ter) c.2179C>T (p.Gln727Ter) c.2308C>T (p.Gln770Ter) c.2128+5884C>T (n.2128+5884C>T) n.2516C>T n.2724C>T c.1933C>T (p.Gln645Ter) c.958C>T (p.Gln320Ter) c.1672C>T (p.Gln558Ter) n.2468C>T n.2676C>T | |
1 | g.197427841A>C | CA344037930 | CRB1 | c.2516A>C (p.Gln839Pro) c.1397A>C (p.Gln466Pro) c.659A>C (p.Gln220Pro) c.2180A>C (p.Gln727Pro) c.2309A>C (p.Gln770Pro) c.2128+5885A>C (n.2128+5885A>C) n.2517A>C n.2725A>C c.1934A>C (p.Gln645Pro) c.959A>C (p.Gln320Pro) c.1673A>C (p.Gln558Pro) n.2469A>C n.2677A>C | |
1 | g.197427841A>G | CA344037933 | CRB1 | c.2516A>G (p.Gln839Arg) c.1397A>G (p.Gln466Arg) c.659A>G (p.Gln220Arg) c.2180A>G (p.Gln727Arg) c.2309A>G (p.Gln770Arg) c.2128+5885A>G (n.2128+5885A>G) n.2517A>G n.2725A>G c.1934A>G (p.Gln645Arg) c.959A>G (p.Gln320Arg) c.1673A>G (p.Gln558Arg) n.2469A>G n.2677A>G | |
1 | g.197427841A>T | CA344037936 | CRB1 | c.2516A>T (p.Gln839Leu) c.1397A>T (p.Gln466Leu) c.659A>T (p.Gln220Leu) c.2180A>T (p.Gln727Leu) c.2309A>T (p.Gln770Leu) c.2128+5885A>T (n.2128+5885A>T) n.2517A>T n.2725A>T c.1934A>T (p.Gln645Leu) c.959A>T (p.Gln320Leu) c.1673A>T (p.Gln558Leu) n.2469A>T n.2677A>T | |
1 | g.197427842A>C | CA344037937 | CRB1 | c.2517A>C (p.Gln839His) c.1398A>C (p.Gln466His) c.660A>C (p.Gln220His) c.2181A>C (p.Gln727His) c.2310A>C (p.Gln770His) c.2128+5886A>C (n.2128+5886A>C) n.2518A>C n.2726A>C c.1935A>C (p.Gln645His) c.960A>C (p.Gln320His) c.1674A>C (p.Gln558His) n.2470A>C n.2678A>C | |
1 | g.197427842A>G | CA422808872 | CRB1 | c.2517A>G (p.Gln839=) c.1398A>G (p.Gln466=) c.660A>G (p.Gln220=) c.2181A>G (p.Gln727=) c.2310A>G (p.Gln770=) c.2128+5886A>G (n.2128+5886A>G) n.2518A>G n.2726A>G c.1935A>G (p.Gln645=) c.960A>G (p.Gln320=) c.1674A>G (p.Gln558=) n.2470A>G n.2678A>G | ClinVar gnomAD v4 |
1 | g.197427842A>T | CA344037939 | CRB1 | c.2517A>T (p.Gln839His) c.1398A>T (p.Gln466His) c.660A>T (p.Gln220His) c.2181A>T (p.Gln727His) c.2310A>T (p.Gln770His) c.2128+5886A>T (n.2128+5886A>T) n.2518A>T n.2726A>T c.1935A>T (p.Gln645His) c.960A>T (p.Gln320His) c.1674A>T (p.Gln558His) n.2470A>T n.2678A>T | |
1 | g.197427843G>A | CA344037948 | CRB1 | c.2518G>A (p.Glu840Lys) c.1399G>A (p.Glu467Lys) c.661G>A (p.Glu221Lys) c.2182G>A (p.Glu728Lys) c.2311G>A (p.Glu771Lys) c.2128+5887G>A (n.2128+5887G>A) n.2519G>A n.2727G>A c.1936G>A (p.Glu646Lys) c.961G>A (p.Glu321Lys) c.1675G>A (p.Glu559Lys) n.2471G>A n.2679G>A | |
1 | g.197427843G>C | CA344037950 | CRB1 | c.2518G>C (p.Glu840Gln) c.1399G>C (p.Glu467Gln) c.661G>C (p.Glu221Gln) c.2182G>C (p.Glu728Gln) c.2311G>C (p.Glu771Gln) c.2128+5887G>C (n.2128+5887G>C) n.2519G>C n.2727G>C c.1936G>C (p.Glu646Gln) c.961G>C (p.Glu321Gln) c.1675G>C (p.Glu559Gln) n.2471G>C n.2679G>C | |
1 | g.197427843G>T | CA344037957 | CRB1 | c.2518G>T (p.Glu840Ter) c.1399G>T (p.Glu467Ter) c.661G>T (p.Glu221Ter) c.2182G>T (p.Glu728Ter) c.2311G>T (p.Glu771Ter) c.2128+5887G>T (n.2128+5887G>T) n.2519G>T n.2727G>T c.1936G>T (p.Glu646Ter) c.961G>T (p.Glu321Ter) c.1675G>T (p.Glu559Ter) n.2471G>T n.2679G>T | |
1 | g.197427844A>C | CA344037963 | CRB1 | c.2519A>C (p.Glu840Ala) c.1400A>C (p.Glu467Ala) c.662A>C (p.Glu221Ala) c.2183A>C (p.Glu728Ala) c.2312A>C (p.Glu771Ala) c.2128+5888A>C (n.2128+5888A>C) n.2520A>C n.2728A>C c.1937A>C (p.Glu646Ala) c.962A>C (p.Glu321Ala) c.1676A>C (p.Glu559Ala) n.2472A>C n.2680A>C | |
1 | g.197427844A>G | CA344037970 | CRB1 | c.2519A>G (p.Glu840Gly) c.1400A>G (p.Glu467Gly) c.662A>G (p.Glu221Gly) c.2183A>G (p.Glu728Gly) c.2312A>G (p.Glu771Gly) c.2128+5888A>G (n.2128+5888A>G) n.2520A>G n.2728A>G c.1937A>G (p.Glu646Gly) c.962A>G (p.Glu321Gly) c.1676A>G (p.Glu559Gly) n.2472A>G n.2680A>G | dbSNP |
1 | g.197427844A>T | CA344037973 | CRB1 | c.2519A>T (p.Glu840Val) c.1400A>T (p.Glu467Val) c.662A>T (p.Glu221Val) c.2183A>T (p.Glu728Val) c.2312A>T (p.Glu771Val) c.2128+5888A>T (n.2128+5888A>T) n.2520A>T n.2728A>T c.1937A>T (p.Glu646Val) c.962A>T (p.Glu321Val) c.1676A>T (p.Glu559Val) n.2472A>T n.2680A>T | |
1 | g.197427845G>A | CA422808876 | CRB1 | c.2520G>A (p.Glu840=) c.1401G>A (p.Glu467=) c.663G>A (p.Glu221=) c.2184G>A (p.Glu728=) c.2313G>A (p.Glu771=) c.2128+5889G>A (n.2128+5889G>A) n.2521G>A n.2729G>A c.1938G>A (p.Glu646=) c.963G>A (p.Glu321=) c.1677G>A (p.Glu559=) n.2473G>A n.2681G>A | COSMIC COSMIC |
1 | g.197427845G>C | CA344037976 | CRB1 | c.2520G>C (p.Glu840Asp) c.1401G>C (p.Glu467Asp) c.663G>C (p.Glu221Asp) c.2184G>C (p.Glu728Asp) c.2313G>C (p.Glu771Asp) c.2128+5889G>C (n.2128+5889G>C) n.2521G>C n.2729G>C c.1938G>C (p.Glu646Asp) c.963G>C (p.Glu321Asp) c.1677G>C (p.Glu559Asp) n.2473G>C n.2681G>C | |
1 | g.197427845G>T | CA344037978 | CRB1 | c.2520G>T (p.Glu840Asp) c.1401G>T (p.Glu467Asp) c.663G>T (p.Glu221Asp) c.2184G>T (p.Glu728Asp) c.2313G>T (p.Glu771Asp) c.2128+5889G>T (n.2128+5889G>T) n.2521G>T n.2729G>T c.1938G>T (p.Glu646Asp) c.963G>T (p.Glu321Asp) c.1677G>T (p.Glu559Asp) n.2473G>T n.2681G>T | |
1 | g.197427846A= | CA1218066347 | CRB1 | c.2521A= (p.Thr841=) c.1402A= (p.Thr468=) c.664A= (p.Thr222=) c.2185A= (p.Thr729=) c.2314A= (p.Thr772=) c.2128+5890A= (n.2128+5890A=) n.2522A= n.2730A= c.1939A= (p.Thr647=) c.964A= (p.Thr322=) c.1678A= (p.Thr560=) n.2474A= n.2682A= | |
1 | g.197427846A>C | CA344037981 | CRB1 | c.2521A>C (p.Thr841Pro) c.1402A>C (p.Thr468Pro) c.664A>C (p.Thr222Pro) c.2185A>C (p.Thr729Pro) c.2314A>C (p.Thr772Pro) c.2128+5890A>C (n.2128+5890A>C) n.2522A>C n.2730A>C c.1939A>C (p.Thr647Pro) c.964A>C (p.Thr322Pro) c.1678A>C (p.Thr560Pro) n.2474A>C n.2682A>C | ClinVar dbSNP |
1 | g.197427846A>G | CA344037990 | CRB1 | c.2521A>G (p.Thr841Ala) c.1402A>G (p.Thr468Ala) c.664A>G (p.Thr222Ala) c.2185A>G (p.Thr729Ala) c.2314A>G (p.Thr772Ala) c.2128+5890A>G (n.2128+5890A>G) n.2522A>G n.2730A>G c.1939A>G (p.Thr647Ala) c.964A>G (p.Thr322Ala) c.1678A>G (p.Thr560Ala) n.2474A>G n.2682A>G | dbSNP gnomAD v4 |
1 | g.197427846A>T | CA35901004 | CRB1 | c.2521A>T (p.Thr841Ser) c.1402A>T (p.Thr468Ser) c.664A>T (p.Thr222Ser) c.2185A>T (p.Thr729Ser) c.2314A>T (p.Thr772Ser) c.2128+5890A>T (n.2128+5890A>T) n.2522A>T n.2730A>T c.1939A>T (p.Thr647Ser) c.964A>T (p.Thr322Ser) c.1678A>T (p.Thr560Ser) n.2474A>T n.2682A>T | dbSNP |
1 | g.197427847C>A | CA344038001 | CRB1 | c.2522C>A (p.Thr841Asn) c.1403C>A (p.Thr468Asn) c.665C>A (p.Thr222Asn) c.2186C>A (p.Thr729Asn) c.2315C>A (p.Thr772Asn) c.2128+5891C>A (n.2128+5891C>A) n.2523C>A n.2731C>A c.1940C>A (p.Thr647Asn) c.965C>A (p.Thr322Asn) c.1679C>A (p.Thr560Asn) n.2475C>A n.2683C>A | |
1 | g.197427847C>G | CA344038006 | CRB1 | c.2522C>G (p.Thr841Ser) c.1403C>G (p.Thr468Ser) c.665C>G (p.Thr222Ser) c.2186C>G (p.Thr729Ser) c.2315C>G (p.Thr772Ser) c.2128+5891C>G (n.2128+5891C>G) n.2523C>G n.2731C>G c.1940C>G (p.Thr647Ser) c.965C>G (p.Thr322Ser) c.1679C>G (p.Thr560Ser) n.2475C>G n.2683C>G | |
1 | g.197427847C>T | CA344038011 | CRB1 | c.2522C>T (p.Thr841Ile) c.1403C>T (p.Thr468Ile) c.665C>T (p.Thr222Ile) c.2186C>T (p.Thr729Ile) c.2315C>T (p.Thr772Ile) c.2128+5891C>T (n.2128+5891C>T) n.2523C>T n.2731C>T c.1940C>T (p.Thr647Ile) c.965C>T (p.Thr322Ile) c.1679C>T (p.Thr560Ile) n.2475C>T n.2683C>T | ClinVar dbSNP |
1 | g.197427848T>A | CA422808881 | CRB1 | c.2523T>A (p.Thr841=) c.1404T>A (p.Thr468=) c.666T>A (p.Thr222=) c.2187T>A (p.Thr729=) c.2316T>A (p.Thr772=) c.2128+5892T>A (n.2128+5892T>A) n.2524T>A n.2732T>A c.1941T>A (p.Thr647=) c.966T>A (p.Thr322=) c.1680T>A (p.Thr560=) n.2476T>A n.2684T>A | |
1 | g.197427848T>C | CA422808882 | CRB1 | c.2523T>C (p.Thr841=) c.1404T>C (p.Thr468=) c.666T>C (p.Thr222=) c.2187T>C (p.Thr729=) c.2316T>C (p.Thr772=) c.2128+5892T>C (n.2128+5892T>C) n.2524T>C n.2732T>C c.1941T>C (p.Thr647=) c.966T>C (p.Thr322=) c.1680T>C (p.Thr560=) n.2476T>C n.2684T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427848T>G | CA422808883 | CRB1 | c.2523T>G (p.Thr841=) c.1404T>G (p.Thr468=) c.666T>G (p.Thr222=) c.2187T>G (p.Thr729=) c.2316T>G (p.Thr772=) c.2128+5892T>G (n.2128+5892T>G) n.2524T>G n.2732T>G c.1941T>G (p.Thr647=) c.966T>G (p.Thr322=) c.1680T>G (p.Thr560=) n.2476T>G n.2684T>G | |
1 | g.197427848T= | CA1218066350 | CRB1 | c.2523T= (p.Thr841=) c.1404T= (p.Thr468=) c.666T= (p.Thr222=) c.2187T= (p.Thr729=) c.2316T= (p.Thr772=) c.2128+5892T= (n.2128+5892T=) n.2524T= n.2732T= c.1941T= (p.Thr647=) c.966T= (p.Thr322=) c.1680T= (p.Thr560=) n.2476T= n.2684T= | |
1 | g.197427849G>A | CA344038014 | CRB1 | c.2524G>A (p.Glu842Lys) c.1405G>A (p.Glu469Lys) c.667G>A (p.Glu223Lys) c.2188G>A (p.Glu730Lys) c.2317G>A (p.Glu773Lys) c.2128+5893G>A (n.2128+5893G>A) n.2525G>A n.2733G>A c.1942G>A (p.Glu648Lys) c.967G>A (p.Glu323Lys) c.1681G>A (p.Glu561Lys) n.2477G>A n.2685G>A | COSMIC COSMIC |
1 | g.197427849G>C | CA344038016 | CRB1 | c.2524G>C (p.Glu842Gln) c.1405G>C (p.Glu469Gln) c.667G>C (p.Glu223Gln) c.2188G>C (p.Glu730Gln) c.2317G>C (p.Glu773Gln) c.2128+5893G>C (n.2128+5893G>C) n.2525G>C n.2733G>C c.1942G>C (p.Glu648Gln) c.967G>C (p.Glu323Gln) c.1681G>C (p.Glu561Gln) n.2477G>C n.2685G>C | |
1 | g.197427849G>T | CA344038019 | CRB1 | c.2524G>T (p.Glu842Ter) c.1405G>T (p.Glu469Ter) c.667G>T (p.Glu223Ter) c.2188G>T (p.Glu730Ter) c.2317G>T (p.Glu773Ter) c.2128+5893G>T (n.2128+5893G>T) n.2525G>T n.2733G>T c.1942G>T (p.Glu648Ter) c.967G>T (p.Glu323Ter) c.1681G>T (p.Glu561Ter) n.2477G>T n.2685G>T | |
1 | g.197427850A>C | CA344038022 | CRB1 | c.2525A>C (p.Glu842Ala) c.1406A>C (p.Glu469Ala) c.668A>C (p.Glu223Ala) c.2189A>C (p.Glu730Ala) c.2318A>C (p.Glu773Ala) c.2128+5894A>C (n.2128+5894A>C) n.2526A>C n.2734A>C c.1943A>C (p.Glu648Ala) c.968A>C (p.Glu323Ala) c.1682A>C (p.Glu561Ala) n.2478A>C n.2686A>C | |
1 | g.197427850A>G | CA344038024 | CRB1 | c.2525A>G (p.Glu842Gly) c.1406A>G (p.Glu469Gly) c.668A>G (p.Glu223Gly) c.2189A>G (p.Glu730Gly) c.2318A>G (p.Glu773Gly) c.2128+5894A>G (n.2128+5894A>G) n.2526A>G n.2734A>G c.1943A>G (p.Glu648Gly) c.968A>G (p.Glu323Gly) c.1682A>G (p.Glu561Gly) n.2478A>G n.2686A>G | |
1 | g.197427850A>T | CA344038027 | CRB1 | c.2525A>T (p.Glu842Val) c.1406A>T (p.Glu469Val) c.668A>T (p.Glu223Val) c.2189A>T (p.Glu730Val) c.2318A>T (p.Glu773Val) c.2128+5894A>T (n.2128+5894A>T) n.2526A>T n.2734A>T c.1943A>T (p.Glu648Val) c.968A>T (p.Glu323Val) c.1682A>T (p.Glu561Val) n.2478A>T n.2686A>T | |
1 | g.197427851A>C | CA344038030 | CRB1 | c.2526A>C (p.Glu842Asp) c.1407A>C (p.Glu469Asp) c.669A>C (p.Glu223Asp) c.2190A>C (p.Glu730Asp) c.2319A>C (p.Glu773Asp) c.2128+5895A>C (n.2128+5895A>C) n.2527A>C n.2735A>C c.1944A>C (p.Glu648Asp) c.969A>C (p.Glu323Asp) c.1683A>C (p.Glu561Asp) n.2479A>C n.2687A>C | |
1 | g.197427851A>G | CA422808887 | CRB1 | c.2526A>G (p.Glu842=) c.1407A>G (p.Glu469=) c.669A>G (p.Glu223=) c.2190A>G (p.Glu730=) c.2319A>G (p.Glu773=) c.2128+5895A>G (n.2128+5895A>G) n.2527A>G n.2735A>G c.1944A>G (p.Glu648=) c.969A>G (p.Glu323=) c.1683A>G (p.Glu561=) n.2479A>G n.2687A>G | |
1 | g.197427851A>T | CA344038034 | CRB1 | c.2526A>T (p.Glu842Asp) c.1407A>T (p.Glu469Asp) c.669A>T (p.Glu223Asp) c.2190A>T (p.Glu730Asp) c.2319A>T (p.Glu773Asp) c.2128+5895A>T (n.2128+5895A>T) n.2527A>T n.2735A>T c.1944A>T (p.Glu648Asp) c.969A>T (p.Glu323Asp) c.1683A>T (p.Glu561Asp) n.2479A>T n.2687A>T | |
1 | g.197427852_197427923del | CA2580061831 | CRB1 | c.2527_2598del (p.Leu843_Pro866del) c.1408_1479del (p.Leu470_Pro493del) c.670_741del (p.Leu224_Pro247del) c.2191_2262del (p.Leu731_Pro754del) c.2320_2391del (p.Leu774_Pro797del) c.2128+5896_2128+5967del (n.2128+5896_2128+5967del) n.2528_2599del n.2736_2807del c.1945_2016del (p.Leu649_Pro672del) c.970_1041del (p.Leu324_Pro347del) c.1684_1755del (p.Leu562_Pro585del) n.2480_2551del n.2688_2759del | ClinVar |
1 | g.197427852C>A | CA344038035 | CRB1 | c.2527C>A (p.Leu843Ile) c.1408C>A (p.Leu470Ile) c.670C>A (p.Leu224Ile) c.2191C>A (p.Leu731Ile) c.2320C>A (p.Leu774Ile) c.2128+5896C>A (n.2128+5896C>A) n.2528C>A n.2736C>A c.1945C>A (p.Leu649Ile) c.970C>A (p.Leu324Ile) c.1684C>A (p.Leu562Ile) n.2480C>A n.2688C>A | |
1 | g.197427852C= | CA1218066351 | CRB1 | c.2527C= (p.Leu843=) c.1408C= (p.Leu470=) c.670C= (p.Leu224=) c.2191C= (p.Leu731=) c.2320C= (p.Leu774=) c.2128+5896C= (n.2128+5896C=) n.2528C= n.2736C= c.1945C= (p.Leu649=) c.970C= (p.Leu324=) c.1684C= (p.Leu562=) n.2480C= n.2688C= | |
1 | g.197427852C>G | CA344038036 | CRB1 | c.2527C>G (p.Leu843Val) c.1408C>G (p.Leu470Val) c.670C>G (p.Leu224Val) c.2191C>G (p.Leu731Val) c.2320C>G (p.Leu774Val) c.2128+5896C>G (n.2128+5896C>G) n.2528C>G n.2736C>G c.1945C>G (p.Leu649Val) c.970C>G (p.Leu324Val) c.1684C>G (p.Leu562Val) n.2480C>G n.2688C>G | |
1 | g.197427852C>T | CA1312131 | CRB1 | c.2527C>T (p.Leu843Phe) c.1408C>T (p.Leu470Phe) c.670C>T (p.Leu224Phe) c.2191C>T (p.Leu731Phe) c.2320C>T (p.Leu774Phe) c.2128+5896C>T (n.2128+5896C>T) n.2528C>T n.2736C>T c.1945C>T (p.Leu649Phe) c.970C>T (p.Leu324Phe) c.1684C>T (p.Leu562Phe) n.2480C>T n.2688C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427853T>A | CA344038038 | CRB1 | c.2528T>A (p.Leu843His) c.1409T>A (p.Leu470His) c.671T>A (p.Leu224His) c.2192T>A (p.Leu731His) c.2321T>A (p.Leu774His) c.2128+5897T>A (n.2128+5897T>A) n.2529T>A n.2737T>A c.1946T>A (p.Leu649His) c.971T>A (p.Leu324His) c.1685T>A (p.Leu562His) n.2481T>A n.2689T>A | |
1 | g.197427853T>C | CA344038040 | CRB1 | c.2528T>C (p.Leu843Pro) c.1409T>C (p.Leu470Pro) c.671T>C (p.Leu224Pro) c.2192T>C (p.Leu731Pro) c.2321T>C (p.Leu774Pro) c.2128+5897T>C (n.2128+5897T>C) n.2529T>C n.2737T>C c.1946T>C (p.Leu649Pro) c.971T>C (p.Leu324Pro) c.1685T>C (p.Leu562Pro) n.2481T>C n.2689T>C | |
1 | g.197427853T>G | CA344038047 | CRB1 | c.2528T>G (p.Leu843Arg) c.1409T>G (p.Leu470Arg) c.671T>G (p.Leu224Arg) c.2192T>G (p.Leu731Arg) c.2321T>G (p.Leu774Arg) c.2128+5897T>G (n.2128+5897T>G) n.2529T>G n.2737T>G c.1946T>G (p.Leu649Arg) c.971T>G (p.Leu324Arg) c.1685T>G (p.Leu562Arg) n.2481T>G n.2689T>G | COSMIC COSMIC |
1 | g.197427854T>A | CA422808890 | CRB1 | c.2529T>A (p.Leu843=) c.1410T>A (p.Leu470=) c.672T>A (p.Leu224=) c.2193T>A (p.Leu731=) c.2322T>A (p.Leu774=) c.2128+5898T>A (n.2128+5898T>A) n.2530T>A n.2738T>A c.1947T>A (p.Leu649=) c.972T>A (p.Leu324=) c.1686T>A (p.Leu562=) n.2482T>A n.2690T>A | |
1 | g.197427854T>C | CA422808888 | CRB1 | c.2529T>C (p.Leu843=) c.1410T>C (p.Leu470=) c.672T>C (p.Leu224=) c.2193T>C (p.Leu731=) c.2322T>C (p.Leu774=) c.2128+5898T>C (n.2128+5898T>C) n.2530T>C n.2738T>C c.1947T>C (p.Leu649=) c.972T>C (p.Leu324=) c.1686T>C (p.Leu562=) n.2482T>C n.2690T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427854T>G | CA422808889 | CRB1 | c.2529T>G (p.Leu843=) c.1410T>G (p.Leu470=) c.672T>G (p.Leu224=) c.2193T>G (p.Leu731=) c.2322T>G (p.Leu774=) c.2128+5898T>G (n.2128+5898T>G) n.2530T>G n.2738T>G c.1947T>G (p.Leu649=) c.972T>G (p.Leu324=) c.1686T>G (p.Leu562=) n.2482T>G n.2690T>G | |
1 | g.197427854T= | CA1218066354 | CRB1 | c.2529T= (p.Leu843=) c.1410T= (p.Leu470=) c.672T= (p.Leu224=) c.2193T= (p.Leu731=) c.2322T= (p.Leu774=) c.2128+5898T= (n.2128+5898T=) n.2530T= n.2738T= c.1947T= (p.Leu649=) c.972T= (p.Leu324=) c.1686T= (p.Leu562=) n.2482T= n.2690T= | |
1 | g.197427855A>C | CA344038051 | CRB1 | c.2530A>C (p.Asn844His) c.1411A>C (p.Asn471His) c.673A>C (p.Asn225His) c.2194A>C (p.Asn732His) c.2323A>C (p.Asn775His) c.2128+5899A>C (n.2128+5899A>C) n.2531A>C n.2739A>C c.1948A>C (p.Asn650His) c.973A>C (p.Asn325His) c.1687A>C (p.Asn563His) n.2483A>C n.2691A>C | |
1 | g.197427855A>G | CA344038054 | CRB1 | c.2530A>G (p.Asn844Asp) c.1411A>G (p.Asn471Asp) c.673A>G (p.Asn225Asp) c.2194A>G (p.Asn732Asp) c.2323A>G (p.Asn775Asp) c.2128+5899A>G (n.2128+5899A>G) n.2531A>G n.2739A>G c.1948A>G (p.Asn650Asp) c.973A>G (p.Asn325Asp) c.1687A>G (p.Asn563Asp) n.2483A>G n.2691A>G | |
1 | g.197427855A>T | CA344038055 | CRB1 | c.2530A>T (p.Asn844Tyr) c.1411A>T (p.Asn471Tyr) c.673A>T (p.Asn225Tyr) c.2194A>T (p.Asn732Tyr) c.2323A>T (p.Asn775Tyr) c.2128+5899A>T (n.2128+5899A>T) n.2531A>T n.2739A>T c.1948A>T (p.Asn650Tyr) c.973A>T (p.Asn325Tyr) c.1687A>T (p.Asn563Tyr) n.2483A>T n.2691A>T | |
1 | g.197427855_197427862delinsAATGGTGG | CA1218066359 | CRB1 | c.2530_2537delinsAATGGTGG (p.Asn844=) c.1411_1418delinsAATGGTGG (p.Asn471=) c.673_680delinsAATGGTGG (p.Asn225=) c.2194_2201delinsAATGGTGG (p.Asn732=) c.2323_2330delinsAATGGTGG (p.Asn775=) c.2128+5899_2128+5906delinsAATGGTGG (n.2128+5899_2128+5906delinsAATGGTGG) n.2531_2538delinsAATGGTGG n.2739_2746delinsAATGGTGG c.1948_1955delinsAATGGTGG (p.Asn650=) c.973_980delinsAATGGTGG (p.Asn325=) c.1687_1694delinsAATGGTGG (p.Asn563=) n.2483_2490delinsAATGGTGG n.2691_2698delinsAATGGTGG | |
1 | g.197427856A>C | CA344038059 | CRB1 | c.2531A>C (p.Asn844Thr) c.1412A>C (p.Asn471Thr) c.674A>C (p.Asn225Thr) c.2195A>C (p.Asn732Thr) c.2324A>C (p.Asn775Thr) c.2128+5900A>C (n.2128+5900A>C) n.2532A>C n.2740A>C c.1949A>C (p.Asn650Thr) c.974A>C (p.Asn325Thr) c.1688A>C (p.Asn563Thr) n.2484A>C n.2692A>C | |
1 | g.197427856A>G | CA344038064 | CRB1 | c.2531A>G (p.Asn844Ser) c.1412A>G (p.Asn471Ser) c.674A>G (p.Asn225Ser) c.2195A>G (p.Asn732Ser) c.2324A>G (p.Asn775Ser) c.2128+5900A>G (n.2128+5900A>G) n.2532A>G n.2740A>G c.1949A>G (p.Asn650Ser) c.974A>G (p.Asn325Ser) c.1688A>G (p.Asn563Ser) n.2484A>G n.2692A>G | gnomAD v4 |
1 | g.197427856A>T | CA344038065 | CRB1 | c.2531A>T (p.Asn844Ile) c.1412A>T (p.Asn471Ile) c.674A>T (p.Asn225Ile) c.2195A>T (p.Asn732Ile) c.2324A>T (p.Asn775Ile) c.2128+5900A>T (n.2128+5900A>T) n.2532A>T n.2740A>T c.1949A>T (p.Asn650Ile) c.974A>T (p.Asn325Ile) c.1688A>T (p.Asn563Ile) n.2484A>T n.2692A>T | |
1 | g.197427856_197427864delinsATGGTGGAT | CA1148228981 | CRB1 | c.2531_2539delinsATGGTGGAT (p.Asn844=) c.1412_1420delinsATGGTGGAT (p.Asn471=) c.674_682delinsATGGTGGAT (p.Asn225=) c.2195_2203delinsATGGTGGAT (p.Asn732=) c.2324_2332delinsATGGTGGAT (p.Asn775=) c.2128+5900_2128+5908delinsATGGTGGAT (n.2128+5900_2128+5908delinsATGGTGGAT) n.2532_2540delinsATGGTGGAT n.2740_2748delinsATGGTGGAT c.1949_1957delinsATGGTGGAT (p.Asn650=) c.974_982delinsATGGTGGAT (p.Asn325=) c.1688_1696delinsATGGTGGAT (p.Asn563=) n.2484_2492delinsATGGTGGAT n.2692_2700delinsATGGTGGAT | |
1 | g.197427858_197427864del | CA1312132 | CRB1 | c.2533_2539del (p.Gly845SerfsTer9) c.1414_1420del (p.Gly472SerfsTer9) c.676_682del (p.Gly226SerfsTer9) c.2197_2203del (p.Gly733SerfsTer9) c.2326_2332del (p.Gly776SerfsTer9) c.2128+5902_2128+5908del (n.2128+5902_2128+5908del) n.2534_2540del n.2742_2748del c.1951_1957del (p.Gly651SerfsTer9) c.976_982del (p.Gly326SerfsTer9) c.1690_1696del (p.Gly564SerfsTer9) n.2486_2492del n.2694_2700del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427857T>A | CA344038075 | CRB1 | c.2532T>A (p.Asn844Lys) c.1413T>A (p.Asn471Lys) c.675T>A (p.Asn225Lys) c.2196T>A (p.Asn732Lys) c.2325T>A (p.Asn775Lys) c.2128+5901T>A (n.2128+5901T>A) n.2533T>A n.2741T>A c.1950T>A (p.Asn650Lys) c.975T>A (p.Asn325Lys) c.1689T>A (p.Asn563Lys) n.2485T>A n.2693T>A | |
1 | g.197427857T>C | CA422808895 | CRB1 | c.2532T>C (p.Asn844=) c.1413T>C (p.Asn471=) c.675T>C (p.Asn225=) c.2196T>C (p.Asn732=) c.2325T>C (p.Asn775=) c.2128+5901T>C (n.2128+5901T>C) n.2533T>C n.2741T>C c.1950T>C (p.Asn650=) c.975T>C (p.Asn325=) c.1689T>C (p.Asn563=) n.2485T>C n.2693T>C | dbSNP gnomAD v4 |
1 | g.197427857T>G | CA344038071 | CRB1 | c.2532T>G (p.Asn844Lys) c.1413T>G (p.Asn471Lys) c.675T>G (p.Asn225Lys) c.2196T>G (p.Asn732Lys) c.2325T>G (p.Asn775Lys) c.2128+5901T>G (n.2128+5901T>G) n.2533T>G n.2741T>G c.1950T>G (p.Asn650Lys) c.975T>G (p.Asn325Lys) c.1689T>G (p.Asn563Lys) n.2485T>G n.2693T>G | |
1 | g.197427857T= | CA1218066368 | CRB1 | c.2532T= (p.Asn844=) c.1413T= (p.Asn471=) c.675T= (p.Asn225=) c.2196T= (p.Asn732=) c.2325T= (p.Asn775=) c.2128+5901T= (n.2128+5901T=) n.2533T= n.2741T= c.1950T= (p.Asn650=) c.975T= (p.Asn325=) c.1689T= (p.Asn563=) n.2485T= n.2693T= | |
1 | g.197427858G>A | CA344038077 | CRB1 | c.2533G>A (p.Gly845Ser) c.1414G>A (p.Gly472Ser) c.676G>A (p.Gly226Ser) c.2197G>A (p.Gly733Ser) c.2326G>A (p.Gly776Ser) c.2128+5902G>A (n.2128+5902G>A) n.2534G>A n.2742G>A c.1951G>A (p.Gly651Ser) c.976G>A (p.Gly326Ser) c.1690G>A (p.Gly564Ser) n.2486G>A n.2694G>A | COSMIC |
1 | g.197427858G>C | CA344038079 | CRB1 | c.2533G>C (p.Gly845Arg) c.1414G>C (p.Gly472Arg) c.676G>C (p.Gly226Arg) c.2197G>C (p.Gly733Arg) c.2326G>C (p.Gly776Arg) c.2128+5902G>C (n.2128+5902G>C) n.2534G>C n.2742G>C c.1951G>C (p.Gly651Arg) c.976G>C (p.Gly326Arg) c.1690G>C (p.Gly564Arg) n.2486G>C n.2694G>C | |
1 | g.197427858G= | CA1218066370 | CRB1 | c.2533G= (p.Gly845=) c.1414G= (p.Gly472=) c.676G= (p.Gly226=) c.2197G= (p.Gly733=) c.2326G= (p.Gly776=) c.2128+5902G= (n.2128+5902G=) n.2534G= n.2742G= c.1951G= (p.Gly651=) c.976G= (p.Gly326=) c.1690G= (p.Gly564=) n.2486G= n.2694G= | |
1 | g.197427858G>T | CA344038081 | CRB1 | c.2533G>T (p.Gly845Cys) c.1414G>T (p.Gly472Cys) c.676G>T (p.Gly226Cys) c.2197G>T (p.Gly733Cys) c.2326G>T (p.Gly776Cys) c.2128+5902G>T (n.2128+5902G>T) n.2534G>T n.2742G>T c.1951G>T (p.Gly651Cys) c.976G>T (p.Gly326Cys) c.1690G>T (p.Gly564Cys) n.2486G>T n.2694G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427858_197427870del | CA2586964524 | CRB1 | c.2533_2545del (p.Gly845LysfsTer7) c.1414_1426del (p.Gly472LysfsTer7) c.676_688del (p.Gly226LysfsTer7) c.2197_2209del (p.Gly733LysfsTer7) c.2326_2338del (p.Gly776LysfsTer7) c.2128+5902_2128+5914del (n.2128+5902_2128+5914del) n.2534_2546del n.2742_2754del c.1951_1963del (p.Gly651LysfsTer7) c.976_988del (p.Gly326LysfsTer7) c.1690_1702del (p.Gly564LysfsTer7) n.2486_2498del n.2694_2706del | |
1 | g.197427859G>A | CA35901043 | CRB1 | c.2534G>A (p.Gly845Asp) c.1415G>A (p.Gly472Asp) c.677G>A (p.Gly226Asp) c.2198G>A (p.Gly733Asp) c.2327G>A (p.Gly776Asp) c.2128+5903G>A (n.2128+5903G>A) n.2535G>A n.2743G>A c.1952G>A (p.Gly651Asp) c.977G>A (p.Gly326Asp) c.1691G>A (p.Gly564Asp) n.2487G>A n.2695G>A | dbSNP gnomAD v4 |
1 | g.197427859G>C | CA344038091 | CRB1 | c.2534G>C (p.Gly845Ala) c.1415G>C (p.Gly472Ala) c.677G>C (p.Gly226Ala) c.2198G>C (p.Gly733Ala) c.2327G>C (p.Gly776Ala) c.2128+5903G>C (n.2128+5903G>C) n.2535G>C n.2743G>C c.1952G>C (p.Gly651Ala) c.977G>C (p.Gly326Ala) c.1691G>C (p.Gly564Ala) n.2487G>C n.2695G>C | dbSNP |
1 | g.197427859G= | CA1218066372 | CRB1 | c.2534G= (p.Gly845=) c.1415G= (p.Gly472=) c.677G= (p.Gly226=) c.2198G= (p.Gly733=) c.2327G= (p.Gly776=) c.2128+5903G= (n.2128+5903G=) n.2535G= n.2743G= c.1952G= (p.Gly651=) c.977G= (p.Gly326=) c.1691G= (p.Gly564=) n.2487G= n.2695G= | |
1 | g.197427859G>T | CA344038092 | CRB1 | c.2534G>T (p.Gly845Val) c.1415G>T (p.Gly472Val) c.677G>T (p.Gly226Val) c.2198G>T (p.Gly733Val) c.2327G>T (p.Gly776Val) c.2128+5903G>T (n.2128+5903G>T) n.2535G>T n.2743G>T c.1952G>T (p.Gly651Val) c.977G>T (p.Gly326Val) c.1691G>T (p.Gly564Val) n.2487G>T n.2695G>T | |
1 | g.197427860T>A | CA422808898 | CRB1 | c.2535T>A (p.Gly845=) c.1416T>A (p.Gly472=) c.678T>A (p.Gly226=) c.2199T>A (p.Gly733=) c.2328T>A (p.Gly776=) c.2128+5904T>A (n.2128+5904T>A) n.2536T>A n.2744T>A c.1953T>A (p.Gly651=) c.978T>A (p.Gly326=) c.1692T>A (p.Gly564=) n.2488T>A n.2696T>A | |
1 | g.197427860T>C | CA1312133 | CRB1 | c.2535T>C (p.Gly845=) c.1416T>C (p.Gly472=) c.678T>C (p.Gly226=) c.2199T>C (p.Gly733=) c.2328T>C (p.Gly776=) c.2128+5904T>C (n.2128+5904T>C) n.2536T>C n.2744T>C c.1953T>C (p.Gly651=) c.978T>C (p.Gly326=) c.1692T>C (p.Gly564=) n.2488T>C n.2696T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427860T>G | CA422808899 | CRB1 | c.2535T>G (p.Gly845=) c.1416T>G (p.Gly472=) c.678T>G (p.Gly226=) c.2199T>G (p.Gly733=) c.2328T>G (p.Gly776=) c.2128+5904T>G (n.2128+5904T>G) n.2536T>G n.2744T>G c.1953T>G (p.Gly651=) c.978T>G (p.Gly326=) c.1692T>G (p.Gly564=) n.2488T>G n.2696T>G | |
1 | g.197427860T= | CA1218066375 | CRB1 | c.2535T= (p.Gly845=) c.1416T= (p.Gly472=) c.678T= (p.Gly226=) c.2199T= (p.Gly733=) c.2328T= (p.Gly776=) c.2128+5904T= (n.2128+5904T=) n.2536T= n.2744T= c.1953T= (p.Gly651=) c.978T= (p.Gly326=) c.1692T= (p.Gly564=) n.2488T= n.2696T= | |
1 | g.197427861_197427867del | CA2586964525 | CRB1 | c.2536_2542del (p.Gly846SerfsTer8) c.1417_1423del (p.Gly473SerfsTer8) c.679_685del (p.Gly227SerfsTer8) c.2200_2206del (p.Gly734SerfsTer8) c.2329_2335del (p.Gly777SerfsTer8) c.2128+5905_2128+5911del (n.2128+5905_2128+5911del) n.2537_2543del n.2745_2751del c.1954_1960del (p.Gly652SerfsTer8) c.979_985del (p.Gly327SerfsTer8) c.1693_1699del (p.Gly565SerfsTer8) n.2489_2495del n.2697_2703del | |
1 | g.197427861G>A | CA1312134 | CRB1 | c.2536G>A (p.Gly846Arg) c.1417G>A (p.Gly473Arg) c.679G>A (p.Gly227Arg) c.2200G>A (p.Gly734Arg) c.2329G>A (p.Gly777Arg) c.2128+5905G>A (n.2128+5905G>A) n.2537G>A n.2745G>A c.1954G>A (p.Gly652Arg) c.979G>A (p.Gly327Arg) c.1693G>A (p.Gly565Arg) n.2489G>A n.2697G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427861G>C | CA344038102 | CRB1 | c.2536G>C (p.Gly846Arg) c.1417G>C (p.Gly473Arg) c.679G>C (p.Gly227Arg) c.2200G>C (p.Gly734Arg) c.2329G>C (p.Gly777Arg) c.2128+5905G>C (n.2128+5905G>C) n.2537G>C n.2745G>C c.1954G>C (p.Gly652Arg) c.979G>C (p.Gly327Arg) c.1693G>C (p.Gly565Arg) n.2489G>C n.2697G>C | |
1 | g.197427861G= | CA1145144645 | CRB1 | c.2536G= (p.Gly846=) c.1417G= (p.Gly473=) c.679G= (p.Gly227=) c.2200G= (p.Gly734=) c.2329G= (p.Gly777=) c.2128+5905G= (n.2128+5905G=) n.2537G= n.2745G= c.1954G= (p.Gly652=) c.979G= (p.Gly327=) c.1693G= (p.Gly565=) n.2489G= n.2697G= | |
1 | g.197427861G>T | CA344038108 | CRB1 | c.2536G>T (p.Gly846Ter) c.1417G>T (p.Gly473Ter) c.679G>T (p.Gly227Ter) c.2200G>T (p.Gly734Ter) c.2329G>T (p.Gly777Ter) c.2128+5905G>T (n.2128+5905G>T) n.2537G>T n.2745G>T c.1954G>T (p.Gly652Ter) c.979G>T (p.Gly327Ter) c.1693G>T (p.Gly565Ter) n.2489G>T n.2697G>T | ClinVar |
1 | g.197427862G>A | CA1312135 | CRB1 | c.2537G>A (p.Gly846Glu) c.1418G>A (p.Gly473Glu) c.680G>A (p.Gly227Glu) c.2201G>A (p.Gly734Glu) c.2330G>A (p.Gly777Glu) c.2128+5906G>A (n.2128+5906G>A) n.2538G>A n.2746G>A c.1955G>A (p.Gly652Glu) c.980G>A (p.Gly327Glu) c.1694G>A (p.Gly565Glu) n.2490G>A n.2698G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427862G>C | CA344038116 | CRB1 | c.2537G>C (p.Gly846Ala) c.1418G>C (p.Gly473Ala) c.680G>C (p.Gly227Ala) c.2201G>C (p.Gly734Ala) c.2330G>C (p.Gly777Ala) c.2128+5906G>C (n.2128+5906G>C) n.2538G>C n.2746G>C c.1955G>C (p.Gly652Ala) c.980G>C (p.Gly327Ala) c.1694G>C (p.Gly565Ala) n.2490G>C n.2698G>C | COSMIC |
1 | g.197427862G= | CA1218066378 | CRB1 | c.2537G= (p.Gly846=) c.1418G= (p.Gly473=) c.680G= (p.Gly227=) c.2201G= (p.Gly734=) c.2330G= (p.Gly777=) c.2128+5906G= (n.2128+5906G=) n.2538G= n.2746G= c.1955G= (p.Gly652=) c.980G= (p.Gly327=) c.1694G= (p.Gly565=) n.2490G= n.2698G= | |
1 | g.197427862G>T | CA344038118 | CRB1 | c.2537G>T (p.Gly846Val) c.1418G>T (p.Gly473Val) c.680G>T (p.Gly227Val) c.2201G>T (p.Gly734Val) c.2330G>T (p.Gly777Val) c.2128+5906G>T (n.2128+5906G>T) n.2538G>T n.2746G>T c.1955G>T (p.Gly652Val) c.980G>T (p.Gly327Val) c.1694G>T (p.Gly565Val) n.2490G>T n.2698G>T | gnomAD v4 |
1 | g.197427863A= | CA1141655576 | CRB1 | c.2538A= (p.Gly846=) c.1419A= (p.Gly473=) c.681A= (p.Gly227=) c.2202A= (p.Gly734=) c.2331A= (p.Gly777=) c.2128+5907A= (n.2128+5907A=) n.2539A= n.2747A= c.1956A= (p.Gly652=) c.981A= (p.Gly327=) c.1695A= (p.Gly565=) n.2491A= n.2699A= | |
1 | g.197427863A>C | CA422808900 | CRB1 | c.2538A>C (p.Gly846=) c.1419A>C (p.Gly473=) c.681A>C (p.Gly227=) c.2202A>C (p.Gly734=) c.2331A>C (p.Gly777=) c.2128+5907A>C (n.2128+5907A>C) n.2539A>C n.2747A>C c.1956A>C (p.Gly652=) c.981A>C (p.Gly327=) c.1695A>C (p.Gly565=) n.2491A>C n.2699A>C | |
1 | g.197427863A>G | CA422808901 | CRB1 | c.2538A>G (p.Gly846=) c.1419A>G (p.Gly473=) c.681A>G (p.Gly227=) c.2202A>G (p.Gly734=) c.2331A>G (p.Gly777=) c.2128+5907A>G (n.2128+5907A>G) n.2539A>G n.2747A>G c.1956A>G (p.Gly652=) c.981A>G (p.Gly327=) c.1695A>G (p.Gly565=) n.2491A>G n.2699A>G | |
1 | g.197427863A>T | CA1312136 | CRB1 | c.2538A>T (p.Gly846=) c.1419A>T (p.Gly473=) c.681A>T (p.Gly227=) c.2202A>T (p.Gly734=) c.2331A>T (p.Gly777=) c.2128+5907A>T (n.2128+5907A>T) n.2539A>T n.2747A>T c.1956A>T (p.Gly652=) c.981A>T (p.Gly327=) c.1695A>T (p.Gly565=) n.2491A>T n.2699A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427864T>A | CA344038125 | CRB1 | c.2539T>A (p.Phe847Ile) c.1420T>A (p.Phe474Ile) c.682T>A (p.Phe228Ile) c.2203T>A (p.Phe735Ile) c.2332T>A (p.Phe778Ile) c.2128+5908T>A (n.2128+5908T>A) n.2540T>A n.2748T>A c.1957T>A (p.Phe653Ile) c.982T>A (p.Phe328Ile) c.1696T>A (p.Phe566Ile) n.2492T>A n.2700T>A | |
1 | g.197427864T>C | CA344038124 | CRB1 | c.2539T>C (p.Phe847Leu) c.1420T>C (p.Phe474Leu) c.682T>C (p.Phe228Leu) c.2203T>C (p.Phe735Leu) c.2332T>C (p.Phe778Leu) c.2128+5908T>C (n.2128+5908T>C) n.2540T>C n.2748T>C c.1957T>C (p.Phe653Leu) c.982T>C (p.Phe328Leu) c.1696T>C (p.Phe566Leu) n.2492T>C n.2700T>C | |
1 | g.197427864T>G | CA344038126 | CRB1 | c.2539T>G (p.Phe847Val) c.1420T>G (p.Phe474Val) c.682T>G (p.Phe228Val) c.2203T>G (p.Phe735Val) c.2332T>G (p.Phe778Val) c.2128+5908T>G (n.2128+5908T>G) n.2540T>G n.2748T>G c.1957T>G (p.Phe653Val) c.982T>G (p.Phe328Val) c.1696T>G (p.Phe566Val) n.2492T>G n.2700T>G | |
1 | g.197427865T>A | CA344038127 | CRB1 | c.2540T>A (p.Phe847Tyr) c.1421T>A (p.Phe474Tyr) c.683T>A (p.Phe228Tyr) c.2204T>A (p.Phe735Tyr) c.2333T>A (p.Phe778Tyr) c.2128+5909T>A (n.2128+5909T>A) n.2541T>A n.2749T>A c.1958T>A (p.Phe653Tyr) c.983T>A (p.Phe328Tyr) c.1697T>A (p.Phe566Tyr) n.2493T>A n.2701T>A | dbSNP |
1 | g.197427865T>C | CA35901083 | CRB1 | c.2540T>C (p.Phe847Ser) c.1421T>C (p.Phe474Ser) c.683T>C (p.Phe228Ser) c.2204T>C (p.Phe735Ser) c.2333T>C (p.Phe778Ser) c.2128+5909T>C (n.2128+5909T>C) n.2541T>C n.2749T>C c.1958T>C (p.Phe653Ser) c.983T>C (p.Phe328Ser) c.1697T>C (p.Phe566Ser) n.2493T>C n.2701T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427865T>G | CA344038129 | CRB1 | c.2540T>G (p.Phe847Cys) c.1421T>G (p.Phe474Cys) c.683T>G (p.Phe228Cys) c.2204T>G (p.Phe735Cys) c.2333T>G (p.Phe778Cys) c.2128+5909T>G (n.2128+5909T>G) n.2541T>G n.2749T>G c.1958T>G (p.Phe653Cys) c.983T>G (p.Phe328Cys) c.1697T>G (p.Phe566Cys) n.2493T>G n.2701T>G | |
1 | g.197427865T= | CA1218066384 | CRB1 | c.2540T= (p.Phe847=) c.1421T= (p.Phe474=) c.683T= (p.Phe228=) c.2204T= (p.Phe735=) c.2333T= (p.Phe778=) c.2128+5909T= (n.2128+5909T=) n.2541T= n.2749T= c.1958T= (p.Phe653=) c.983T= (p.Phe328=) c.1697T= (p.Phe566=) n.2493T= n.2701T= | |
1 | g.197427866_197427867del | CA2573131446 | CRB1 | c.2541_2542del (p.Phe848GlnfsTer?) c.1422_1423del (p.Phe475GlnfsTer?) c.684_685del (p.Phe229GlnfsTer?) c.2205_2206del (p.Phe736GlnfsTer?) c.2334_2335del (p.Phe779GlnfsTer?) c.2128+5910_2128+5911del (n.2128+5910_2128+5911del) n.2542_2543del n.2750_2751del c.1959_1960del (p.Phe654GlnfsTer?) c.984_985del (p.Phe329GlnfsTer?) c.1698_1699del (p.Phe567GlnfsTer?) n.2494_2495del n.2702_2703del | ClinVar dbSNP |
1 | g.197427865_197427866insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG | CA2844919699 | CRB1 | c.2540_2541insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe847LeufsTer17) c.1421_1422insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe474LeufsTer17) c.683_684insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe228LeufsTer17) c.2204_2205insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe735LeufsTer17) c.2333_2334insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe778LeufsTer17) c.2128+5909_2128+5910insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (n.2128+5909_2128+5910insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG) n.2541_2542insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG n.2749_2750insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG c.1958_1959insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe653LeufsTer17) c.983_984insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe328LeufsTer17) c.1697_1698insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe566LeufsTer17) n.2493_2494insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG n.2701_2702insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG | |
1 | g.197427866C>A | CA344038131 | CRB1 | c.2541C>A (p.Phe847Leu) c.1422C>A (p.Phe474Leu) c.684C>A (p.Phe228Leu) c.2205C>A (p.Phe735Leu) c.2334C>A (p.Phe778Leu) c.2128+5910C>A (n.2128+5910C>A) n.2542C>A n.2750C>A c.1959C>A (p.Phe653Leu) c.984C>A (p.Phe328Leu) c.1698C>A (p.Phe566Leu) n.2494C>A n.2702C>A | |
1 | g.197427866C= | CA1218066387 | CRB1 | c.2541C= (p.Phe847=) c.1422C= (p.Phe474=) c.684C= (p.Phe228=) c.2205C= (p.Phe735=) c.2334C= (p.Phe778=) c.2128+5910C= (n.2128+5910C=) n.2542C= n.2750C= c.1959C= (p.Phe653=) c.984C= (p.Phe328=) c.1698C= (p.Phe566=) n.2494C= n.2702C= | |
1 | g.197427866C>G | CA344038133 | CRB1 | c.2541C>G (p.Phe847Leu) c.1422C>G (p.Phe474Leu) c.684C>G (p.Phe228Leu) c.2205C>G (p.Phe735Leu) c.2334C>G (p.Phe778Leu) c.2128+5910C>G (n.2128+5910C>G) n.2542C>G n.2750C>G c.1959C>G (p.Phe653Leu) c.984C>G (p.Phe328Leu) c.1698C>G (p.Phe566Leu) n.2494C>G n.2702C>G | |
1 | g.197427866C>T | CA422808905 | CRB1 | c.2541C>T (p.Phe847=) c.1422C>T (p.Phe474=) c.684C>T (p.Phe228=) c.2205C>T (p.Phe735=) c.2334C>T (p.Phe778=) c.2128+5910C>T (n.2128+5910C>T) n.2542C>T n.2750C>T c.1959C>T (p.Phe653=) c.984C>T (p.Phe328=) c.1698C>T (p.Phe566=) n.2494C>T n.2702C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427867T>A | CA344038141 | CRB1 | c.2542T>A (p.Phe848Ile) c.1423T>A (p.Phe475Ile) c.685T>A (p.Phe229Ile) c.2206T>A (p.Phe736Ile) c.2335T>A (p.Phe779Ile) c.2128+5911T>A (n.2128+5911T>A) n.2543T>A n.2751T>A c.1960T>A (p.Phe654Ile) c.985T>A (p.Phe329Ile) c.1699T>A (p.Phe567Ile) n.2495T>A n.2703T>A | |
1 | g.197427867T>C | CA344038139 | CRB1 | c.2542T>C (p.Phe848Leu) c.1423T>C (p.Phe475Leu) c.685T>C (p.Phe229Leu) c.2206T>C (p.Phe736Leu) c.2335T>C (p.Phe779Leu) c.2128+5911T>C (n.2128+5911T>C) n.2543T>C n.2751T>C c.1960T>C (p.Phe654Leu) c.985T>C (p.Phe329Leu) c.1699T>C (p.Phe567Leu) n.2495T>C n.2703T>C | gnomAD v4 |
1 | g.197427867T>G | CA344038136 | CRB1 | c.2542T>G (p.Phe848Val) c.1423T>G (p.Phe475Val) c.685T>G (p.Phe229Val) c.2206T>G (p.Phe736Val) c.2335T>G (p.Phe779Val) c.2128+5911T>G (n.2128+5911T>G) n.2543T>G n.2751T>G c.1960T>G (p.Phe654Val) c.985T>G (p.Phe329Val) c.1699T>G (p.Phe567Val) n.2495T>G n.2703T>G | |
1 | g.197427868del | CA2740090300 | CRB1 | c.2543del (p.Phe848SerfsTer8) c.1424del (p.Phe475SerfsTer8) c.686del (p.Phe229SerfsTer8) c.2207del (p.Phe736SerfsTer8) c.2336del (p.Phe779SerfsTer8) c.2128+5912del (n.2128+5912del) n.2544del n.2752del c.1961del (p.Phe654SerfsTer8) c.986del (p.Phe329SerfsTer8) c.1700del (p.Phe567SerfsTer8) n.2496del n.2704del | ClinVar |
1 | g.197427868T>A | CA344038146 | CRB1 | c.2543T>A (p.Phe848Tyr) c.1424T>A (p.Phe475Tyr) c.686T>A (p.Phe229Tyr) c.2207T>A (p.Phe736Tyr) c.2336T>A (p.Phe779Tyr) c.2128+5912T>A (n.2128+5912T>A) n.2544T>A n.2752T>A c.1961T>A (p.Phe654Tyr) c.986T>A (p.Phe329Tyr) c.1700T>A (p.Phe567Tyr) n.2496T>A n.2704T>A | |
1 | g.197427868T>C | CA344038148 | CRB1 | c.2543T>C (p.Phe848Ser) c.1424T>C (p.Phe475Ser) c.686T>C (p.Phe229Ser) c.2207T>C (p.Phe736Ser) c.2336T>C (p.Phe779Ser) c.2128+5912T>C (n.2128+5912T>C) n.2544T>C n.2752T>C c.1961T>C (p.Phe654Ser) c.986T>C (p.Phe329Ser) c.1700T>C (p.Phe567Ser) n.2496T>C n.2704T>C | |
1 | g.197427868T>G | CA344038153 | CRB1 | c.2543T>G (p.Phe848Cys) c.1424T>G (p.Phe475Cys) c.686T>G (p.Phe229Cys) c.2207T>G (p.Phe736Cys) c.2336T>G (p.Phe779Cys) c.2128+5912T>G (n.2128+5912T>G) n.2544T>G n.2752T>G c.1961T>G (p.Phe654Cys) c.986T>G (p.Phe329Cys) c.1700T>G (p.Phe567Cys) n.2496T>G n.2704T>G | |
1 | g.197427869C>A | CA344038162 | CRB1 | c.2544C>A (p.Phe848Leu) c.1425C>A (p.Phe475Leu) c.687C>A (p.Phe229Leu) c.2208C>A (p.Phe736Leu) c.2337C>A (p.Phe779Leu) c.2128+5913C>A (n.2128+5913C>A) n.2545C>A n.2753C>A c.1962C>A (p.Phe654Leu) c.987C>A (p.Phe329Leu) c.1701C>A (p.Phe567Leu) n.2497C>A n.2705C>A | |
1 | g.197427869C= | CA1218066390 | CRB1 | c.2544C= (p.Phe848=) c.1425C= (p.Phe475=) c.687C= (p.Phe229=) c.2208C= (p.Phe736=) c.2337C= (p.Phe779=) c.2128+5913C= (n.2128+5913C=) n.2545C= n.2753C= c.1962C= (p.Phe654=) c.987C= (p.Phe329=) c.1701C= (p.Phe567=) n.2497C= n.2705C= | |
1 | g.197427869C>G | CA344038163 | CRB1 | c.2544C>G (p.Phe848Leu) c.1425C>G (p.Phe475Leu) c.687C>G (p.Phe229Leu) c.2208C>G (p.Phe736Leu) c.2337C>G (p.Phe779Leu) c.2128+5913C>G (n.2128+5913C>G) n.2545C>G n.2753C>G c.1962C>G (p.Phe654Leu) c.987C>G (p.Phe329Leu) c.1701C>G (p.Phe567Leu) n.2497C>G n.2705C>G | |
1 | g.197427869C>T | CA1312137 | CRB1 | c.2544C>T (p.Phe848=) c.1425C>T (p.Phe475=) c.687C>T (p.Phe229=) c.2208C>T (p.Phe736=) c.2337C>T (p.Phe779=) c.2128+5913C>T (n.2128+5913C>T) n.2545C>T n.2753C>T c.1962C>T (p.Phe654=) c.987C>T (p.Phe329=) c.1701C>T (p.Phe567=) n.2497C>T n.2705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427870A>C | CA344038167 | CRB1 | c.2545A>C (p.Lys849Gln) c.1426A>C (p.Lys476Gln) c.688A>C (p.Lys230Gln) c.2209A>C (p.Lys737Gln) c.2338A>C (p.Lys780Gln) c.2128+5914A>C (n.2128+5914A>C) n.2546A>C n.2754A>C c.1963A>C (p.Lys655Gln) c.988A>C (p.Lys330Gln) c.1702A>C (p.Lys568Gln) n.2498A>C n.2706A>C | |
1 | g.197427870A>G | CA344038165 | CRB1 | c.2545A>G (p.Lys849Glu) c.1426A>G (p.Lys476Glu) c.688A>G (p.Lys230Glu) c.2209A>G (p.Lys737Glu) c.2338A>G (p.Lys780Glu) c.2128+5914A>G (n.2128+5914A>G) n.2546A>G n.2754A>G c.1963A>G (p.Lys655Glu) c.988A>G (p.Lys330Glu) c.1702A>G (p.Lys568Glu) n.2498A>G n.2706A>G | |
1 | g.197427870A>T | CA344038166 | CRB1 | c.2545A>T (p.Lys849Ter) c.1426A>T (p.Lys476Ter) c.688A>T (p.Lys230Ter) c.2209A>T (p.Lys737Ter) c.2338A>T (p.Lys780Ter) c.2128+5914A>T (n.2128+5914A>T) n.2546A>T n.2754A>T c.1963A>T (p.Lys655Ter) c.988A>T (p.Lys330Ter) c.1702A>T (p.Lys568Ter) n.2498A>T n.2706A>T | |
1 | g.197427871A>C | CA344038168 | CRB1 | c.2546A>C (p.Lys849Thr) c.1427A>C (p.Lys476Thr) c.689A>C (p.Lys230Thr) c.2210A>C (p.Lys737Thr) c.2339A>C (p.Lys780Thr) c.2128+5915A>C (n.2128+5915A>C) n.2547A>C n.2755A>C c.1964A>C (p.Lys655Thr) c.989A>C (p.Lys330Thr) c.1703A>C (p.Lys568Thr) n.2499A>C n.2707A>C | |
1 | g.197427871A>G | CA344038171 | CRB1 | c.2546A>G (p.Lys849Arg) c.1427A>G (p.Lys476Arg) c.689A>G (p.Lys230Arg) c.2210A>G (p.Lys737Arg) c.2339A>G (p.Lys780Arg) c.2128+5915A>G (n.2128+5915A>G) n.2547A>G n.2755A>G c.1964A>G (p.Lys655Arg) c.989A>G (p.Lys330Arg) c.1703A>G (p.Lys568Arg) n.2499A>G n.2707A>G | |
1 | g.197427871A>T | CA344038172 | CRB1 | c.2546A>T (p.Lys849Ile) c.1427A>T (p.Lys476Ile) c.689A>T (p.Lys230Ile) c.2210A>T (p.Lys737Ile) c.2339A>T (p.Lys780Ile) c.2128+5915A>T (n.2128+5915A>T) n.2547A>T n.2755A>T c.1964A>T (p.Lys655Ile) c.989A>T (p.Lys330Ile) c.1703A>T (p.Lys568Ile) n.2499A>T n.2707A>T | |
1 | g.197427872A= | CA1218066398 | CRB1 | c.2547A= (p.Lys849=) c.1428A= (p.Lys476=) c.690A= (p.Lys230=) c.2211A= (p.Lys737=) c.2340A= (p.Lys780=) c.2128+5916A= (n.2128+5916A=) n.2548A= n.2756A= c.1965A= (p.Lys655=) c.990A= (p.Lys330=) c.1704A= (p.Lys568=) n.2500A= n.2708A= | |
1 | g.197427872A>C | CA344038175 | CRB1 | c.2547A>C (p.Lys849Asn) c.1428A>C (p.Lys476Asn) c.690A>C (p.Lys230Asn) c.2211A>C (p.Lys737Asn) c.2340A>C (p.Lys780Asn) c.2128+5916A>C (n.2128+5916A>C) n.2548A>C n.2756A>C c.1965A>C (p.Lys655Asn) c.990A>C (p.Lys330Asn) c.1704A>C (p.Lys568Asn) n.2500A>C n.2708A>C | |
1 | g.197427872A>G | CA1312138 | CRB1 | c.2547A>G (p.Lys849=) c.1428A>G (p.Lys476=) c.690A>G (p.Lys230=) c.2211A>G (p.Lys737=) c.2340A>G (p.Lys780=) c.2128+5916A>G (n.2128+5916A>G) n.2548A>G n.2756A>G c.1965A>G (p.Lys655=) c.990A>G (p.Lys330=) c.1704A>G (p.Lys568=) n.2500A>G n.2708A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427872A>T | CA344038176 | CRB1 | c.2547A>T (p.Lys849Asn) c.1428A>T (p.Lys476Asn) c.690A>T (p.Lys230Asn) c.2211A>T (p.Lys737Asn) c.2340A>T (p.Lys780Asn) c.2128+5916A>T (n.2128+5916A>T) n.2548A>T n.2756A>T c.1965A>T (p.Lys655Asn) c.990A>T (p.Lys330Asn) c.1704A>T (p.Lys568Asn) n.2500A>T n.2708A>T | |
1 | g.197427872_197427876delinsAGGCT | CA1218066396 | CRB1 | c.2547_2551delinsAGGCT (p.Lys849=) c.1428_1432delinsAGGCT (p.Lys476=) c.690_694delinsAGGCT (p.Lys230=) c.2211_2215delinsAGGCT (p.Lys737=) c.2340_2344delinsAGGCT (p.Lys780=) c.2128+5916_2128+5920delinsAGGCT (n.2128+5916_2128+5920delinsAGGCT) n.2548_2552delinsAGGCT n.2756_2760delinsAGGCT c.1965_1969delinsAGGCT (p.Lys655=) c.990_994delinsAGGCT (p.Lys330=) c.1704_1708delinsAGGCT (p.Lys568=) n.2500_2504delinsAGGCT n.2708_2712delinsAGGCT | |
1 | g.197427873G>A | CA1312139 | CRB1 | c.2548G>A (p.Gly850Ser) c.1429G>A (p.Gly477Ser) c.691G>A (p.Gly231Ser) c.2212G>A (p.Gly738Ser) c.2341G>A (p.Gly781Ser) c.2128+5917G>A (n.2128+5917G>A) n.2549G>A n.2757G>A c.1966G>A (p.Gly656Ser) c.991G>A (p.Gly331Ser) c.1705G>A (p.Gly569Ser) n.2501G>A n.2709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197427873G>C | CA344038180 | CRB1 | c.2548G>C (p.Gly850Arg) c.1429G>C (p.Gly477Arg) c.691G>C (p.Gly231Arg) c.2212G>C (p.Gly738Arg) c.2341G>C (p.Gly781Arg) c.2128+5917G>C (n.2128+5917G>C) n.2549G>C n.2757G>C c.1966G>C (p.Gly656Arg) c.991G>C (p.Gly331Arg) c.1705G>C (p.Gly569Arg) n.2501G>C n.2709G>C | gnomAD v4 |
1 | g.197427873G= | CA1218066404 | CRB1 | c.2548G= (p.Gly850=) c.1429G= (p.Gly477=) c.691G= (p.Gly231=) c.2212G= (p.Gly738=) c.2341G= (p.Gly781=) c.2128+5917G= (n.2128+5917G=) n.2549G= n.2757G= c.1966G= (p.Gly656=) c.991G= (p.Gly331=) c.1705G= (p.Gly569=) n.2501G= n.2709G= | |
1 | g.197427873G>T | CA344038183 | CRB1 | c.2548G>T (p.Gly850Cys) c.1429G>T (p.Gly477Cys) c.691G>T (p.Gly231Cys) c.2212G>T (p.Gly738Cys) c.2341G>T (p.Gly781Cys) c.2128+5917G>T (n.2128+5917G>T) n.2549G>T n.2757G>T c.1966G>T (p.Gly656Cys) c.991G>T (p.Gly331Cys) c.1705G>T (p.Gly569Cys) n.2501G>T n.2709G>T | ClinVar COSMIC COSMIC |
1 | g.197427873_197427877delinsGGCTG | CA1140762946 | CRB1 | c.2548_2552delinsGGCTG (p.Gly850=) c.1429_1433delinsGGCTG (p.Gly477=) c.691_695delinsGGCTG (p.Gly231=) c.2212_2216delinsGGCTG (p.Gly738=) c.2341_2345delinsGGCTG (p.Gly781=) c.2128+5917_2128+5921delinsGGCTG (n.2128+5917_2128+5921delinsGGCTG) n.2549_2553delinsGGCTG n.2757_2761delinsGGCTG c.1966_1970delinsGGCTG (p.Gly656=) c.991_995delinsGGCTG (p.Gly331=) c.1705_1709delinsGGCTG (p.Gly569=) n.2501_2505delinsGGCTG n.2709_2713delinsGGCTG | |
1 | g.197427874_197427877del | CA228012 | CRB1 | c.2549_2552del (p.Gly850ValfsTer5) c.1430_1433del (p.Gly477ValfsTer5) c.692_695del (p.Gly231ValfsTer5) c.2213_2216del (p.Gly738ValfsTer5) c.2342_2345del (p.Gly781ValfsTer5) c.2128+5918_2128+5921del (n.2128+5918_2128+5921del) n.2550_2553del n.2758_2761del c.1967_1970del (p.Gly656ValfsTer5) c.992_995del (p.Gly331ValfsTer5) c.1706_1709del (p.Gly569ValfsTer5) n.2502_2505del n.2710_2713del | ClinVar dbSNP |
1 | g.197427874G>A | CA35901098 | CRB1 | c.2549G>A (p.Gly850Asp) c.1430G>A (p.Gly477Asp) c.692G>A (p.Gly231Asp) c.2213G>A (p.Gly738Asp) c.2342G>A (p.Gly781Asp) c.2128+5918G>A (n.2128+5918G>A) n.2550G>A n.2758G>A c.1967G>A (p.Gly656Asp) c.992G>A (p.Gly331Asp) c.1706G>A (p.Gly569Asp) n.2502G>A n.2710G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427874G>C | CA344038189 | CRB1 | c.2549G>C (p.Gly850Ala) c.1430G>C (p.Gly477Ala) c.692G>C (p.Gly231Ala) c.2213G>C (p.Gly738Ala) c.2342G>C (p.Gly781Ala) c.2128+5918G>C (n.2128+5918G>C) n.2550G>C n.2758G>C c.1967G>C (p.Gly656Ala) c.992G>C (p.Gly331Ala) c.1706G>C (p.Gly569Ala) n.2502G>C n.2710G>C | ClinVar dbSNP |
1 | g.197427874G= | CA1218066411 | CRB1 | c.2549G= (p.Gly850=) c.1430G= (p.Gly477=) c.692G= (p.Gly231=) c.2213G= (p.Gly738=) c.2342G= (p.Gly781=) c.2128+5918G= (n.2128+5918G=) n.2550G= n.2758G= c.1967G= (p.Gly656=) c.992G= (p.Gly331=) c.1706G= (p.Gly569=) n.2502G= n.2710G= | |
1 | g.197427874G>T | CA1312140 | CRB1 | c.2549G>T (p.Gly850Val) c.1430G>T (p.Gly477Val) c.692G>T (p.Gly231Val) c.2213G>T (p.Gly738Val) c.2342G>T (p.Gly781Val) c.2128+5918G>T (n.2128+5918G>T) n.2550G>T n.2758G>T c.1967G>T (p.Gly656Val) c.992G>T (p.Gly331Val) c.1706G>T (p.Gly569Val) n.2502G>T n.2710G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427875C>A | CA422808910 | CRB1 | c.2550C>A (p.Gly850=) c.1431C>A (p.Gly477=) c.693C>A (p.Gly231=) c.2214C>A (p.Gly738=) c.2343C>A (p.Gly781=) c.2128+5919C>A (n.2128+5919C>A) n.2551C>A n.2759C>A c.1968C>A (p.Gly656=) c.993C>A (p.Gly331=) c.1707C>A (p.Gly569=) n.2503C>A n.2711C>A | COSMIC |
1 | g.197427875C>G | CA422808908 | CRB1 | c.2550C>G (p.Gly850=) c.1431C>G (p.Gly477=) c.693C>G (p.Gly231=) c.2214C>G (p.Gly738=) c.2343C>G (p.Gly781=) c.2128+5919C>G (n.2128+5919C>G) n.2551C>G n.2759C>G c.1968C>G (p.Gly656=) c.993C>G (p.Gly331=) c.1707C>G (p.Gly569=) n.2503C>G n.2711C>G | |
1 | g.197427875C>T | CA422808909 | CRB1 | c.2550C>T (p.Gly850=) c.1431C>T (p.Gly477=) c.693C>T (p.Gly231=) c.2214C>T (p.Gly738=) c.2343C>T (p.Gly781=) c.2128+5919C>T (n.2128+5919C>T) n.2551C>T n.2759C>T c.1968C>T (p.Gly656=) c.993C>T (p.Gly331=) c.1707C>T (p.Gly569=) n.2503C>T n.2711C>T | gnomAD v4 |
1 | g.197427876T>A | CA344038211 | CRB1 | c.2551T>A (p.Cys851Ser) c.1432T>A (p.Cys478Ser) c.694T>A (p.Cys232Ser) c.2215T>A (p.Cys739Ser) c.2344T>A (p.Cys782Ser) c.2128+5920T>A (n.2128+5920T>A) n.2552T>A n.2760T>A c.1969T>A (p.Cys657Ser) c.994T>A (p.Cys332Ser) c.1708T>A (p.Cys570Ser) n.2504T>A n.2712T>A | |
1 | g.197427876T>C | CA344038193 | CRB1 | c.2551T>C (p.Cys851Arg) c.1432T>C (p.Cys478Arg) c.694T>C (p.Cys232Arg) c.2215T>C (p.Cys739Arg) c.2344T>C (p.Cys782Arg) c.2128+5920T>C (n.2128+5920T>C) n.2552T>C n.2760T>C c.1969T>C (p.Cys657Arg) c.994T>C (p.Cys332Arg) c.1708T>C (p.Cys570Arg) n.2504T>C n.2712T>C | gnomAD v4 |
1 | g.197427876T>G | CA344038196 | CRB1 | c.2551T>G (p.Cys851Gly) c.1432T>G (p.Cys478Gly) c.694T>G (p.Cys232Gly) c.2215T>G (p.Cys739Gly) c.2344T>G (p.Cys782Gly) c.2128+5920T>G (n.2128+5920T>G) n.2552T>G n.2760T>G c.1969T>G (p.Cys657Gly) c.994T>G (p.Cys332Gly) c.1708T>G (p.Cys570Gly) n.2504T>G n.2712T>G | |
1 | g.197427877G>A | CA344038214 | CRB1 | c.2552G>A (p.Cys851Tyr) c.1433G>A (p.Cys478Tyr) c.695G>A (p.Cys232Tyr) c.2216G>A (p.Cys739Tyr) c.2345G>A (p.Cys782Tyr) c.2128+5921G>A (n.2128+5921G>A) n.2553G>A n.2761G>A c.1970G>A (p.Cys657Tyr) c.995G>A (p.Cys332Tyr) c.1709G>A (p.Cys570Tyr) n.2505G>A n.2713G>A | |
1 | g.197427877G>C | CA344038216 | CRB1 | c.2552G>C (p.Cys851Ser) c.1433G>C (p.Cys478Ser) c.695G>C (p.Cys232Ser) c.2216G>C (p.Cys739Ser) c.2345G>C (p.Cys782Ser) c.2128+5921G>C (n.2128+5921G>C) n.2553G>C n.2761G>C c.1970G>C (p.Cys657Ser) c.995G>C (p.Cys332Ser) c.1709G>C (p.Cys570Ser) n.2505G>C n.2713G>C | ClinVar |
1 | g.197427877G>T | CA344038223 | CRB1 | c.2552G>T (p.Cys851Phe) c.1433G>T (p.Cys478Phe) c.695G>T (p.Cys232Phe) c.2216G>T (p.Cys739Phe) c.2345G>T (p.Cys782Phe) c.2128+5921G>T (n.2128+5921G>T) n.2553G>T n.2761G>T c.1970G>T (p.Cys657Phe) c.995G>T (p.Cys332Phe) c.1709G>T (p.Cys570Phe) n.2505G>T n.2713G>T | |
1 | g.197427878T>A | CA344038226 | CRB1 | c.2553T>A (p.Cys851Ter) c.1434T>A (p.Cys478Ter) c.696T>A (p.Cys232Ter) c.2217T>A (p.Cys739Ter) c.2346T>A (p.Cys782Ter) c.2128+5922T>A (n.2128+5922T>A) n.2554T>A n.2762T>A c.1971T>A (p.Cys657Ter) c.996T>A (p.Cys332Ter) c.1710T>A (p.Cys570Ter) n.2506T>A n.2714T>A | |
1 | g.197427878T>C | CA1312141 | CRB1 | c.2553T>C (p.Cys851=) c.1434T>C (p.Cys478=) c.696T>C (p.Cys232=) c.2217T>C (p.Cys739=) c.2346T>C (p.Cys782=) c.2128+5922T>C (n.2128+5922T>C) n.2554T>C n.2762T>C c.1971T>C (p.Cys657=) c.996T>C (p.Cys332=) c.1710T>C (p.Cys570=) n.2506T>C n.2714T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427878T>G | CA344038232 | CRB1 | c.2553T>G (p.Cys851Trp) c.1434T>G (p.Cys478Trp) c.696T>G (p.Cys232Trp) c.2217T>G (p.Cys739Trp) c.2346T>G (p.Cys782Trp) c.2128+5922T>G (n.2128+5922T>G) n.2554T>G n.2762T>G c.1971T>G (p.Cys657Trp) c.996T>G (p.Cys332Trp) c.1710T>G (p.Cys570Trp) n.2506T>G n.2714T>G | |
1 | g.197427878T= | CA1218066418 | CRB1 | c.2553T= (p.Cys851=) c.1434T= (p.Cys478=) c.696T= (p.Cys232=) c.2217T= (p.Cys739=) c.2346T= (p.Cys782=) c.2128+5922T= (n.2128+5922T=) n.2554T= n.2762T= c.1971T= (p.Cys657=) c.996T= (p.Cys332=) c.1710T= (p.Cys570=) n.2506T= n.2714T= | |
1 | g.197427879A>C | CA344038240 | CRB1 | c.2554A>C (p.Ile852Leu) c.1435A>C (p.Ile479Leu) c.697A>C (p.Ile233Leu) c.2218A>C (p.Ile740Leu) c.2347A>C (p.Ile783Leu) c.2128+5923A>C (n.2128+5923A>C) n.2555A>C n.2763A>C c.1972A>C (p.Ile658Leu) c.997A>C (p.Ile333Leu) c.1711A>C (p.Ile571Leu) n.2507A>C n.2715A>C | |
1 | g.197427879A>G | CA344038241 | CRB1 | c.2554A>G (p.Ile852Val) c.1435A>G (p.Ile479Val) c.697A>G (p.Ile233Val) c.2218A>G (p.Ile740Val) c.2347A>G (p.Ile783Val) c.2128+5923A>G (n.2128+5923A>G) n.2555A>G n.2763A>G c.1972A>G (p.Ile658Val) c.997A>G (p.Ile333Val) c.1711A>G (p.Ile571Val) n.2507A>G n.2715A>G | |
1 | g.197427879A>T | CA344038243 | CRB1 | c.2554A>T (p.Ile852Phe) c.1435A>T (p.Ile479Phe) c.697A>T (p.Ile233Phe) c.2218A>T (p.Ile740Phe) c.2347A>T (p.Ile783Phe) c.2128+5923A>T (n.2128+5923A>T) n.2555A>T n.2763A>T c.1972A>T (p.Ile658Phe) c.997A>T (p.Ile333Phe) c.1711A>T (p.Ile571Phe) n.2507A>T n.2715A>T | |
1 | g.197427880T>A | CA344038246 | CRB1 | c.2555T>A (p.Ile852Asn) c.1436T>A (p.Ile479Asn) c.698T>A (p.Ile233Asn) c.2219T>A (p.Ile740Asn) c.2348T>A (p.Ile783Asn) c.2128+5924T>A (n.2128+5924T>A) n.2556T>A n.2764T>A c.1973T>A (p.Ile658Asn) c.998T>A (p.Ile333Asn) c.1712T>A (p.Ile571Asn) n.2508T>A n.2716T>A | |
1 | g.197427880T>C | CA228013 | CRB1 | c.2555T>C (p.Ile852Thr) c.1436T>C (p.Ile479Thr) c.698T>C (p.Ile233Thr) c.2219T>C (p.Ile740Thr) c.2348T>C (p.Ile783Thr) c.2128+5924T>C (n.2128+5924T>C) n.2556T>C n.2764T>C c.1973T>C (p.Ile658Thr) c.998T>C (p.Ile333Thr) c.1712T>C (p.Ile571Thr) n.2508T>C n.2716T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427880T>G | CA344038252 | CRB1 | c.2555T>G (p.Ile852Ser) c.1436T>G (p.Ile479Ser) c.698T>G (p.Ile233Ser) c.2219T>G (p.Ile740Ser) c.2348T>G (p.Ile783Ser) c.2128+5924T>G (n.2128+5924T>G) n.2556T>G n.2764T>G c.1973T>G (p.Ile658Ser) c.998T>G (p.Ile333Ser) c.1712T>G (p.Ile571Ser) n.2508T>G n.2716T>G | |
1 | g.197427880T= | CA1140762947 | CRB1 | c.2555T= (p.Ile852=) c.1436T= (p.Ile479=) c.698T= (p.Ile233=) c.2219T= (p.Ile740=) c.2348T= (p.Ile783=) c.2128+5924T= (n.2128+5924T=) n.2556T= n.2764T= c.1973T= (p.Ile658=) c.998T= (p.Ile333=) c.1712T= (p.Ile571=) n.2508T= n.2716T= | |
1 | g.197427881C>A | CA422808912 | CRB1 | c.2556C>A (p.Ile852=) c.1437C>A (p.Ile479=) c.699C>A (p.Ile233=) c.2220C>A (p.Ile740=) c.2349C>A (p.Ile783=) c.2128+5925C>A (n.2128+5925C>A) n.2557C>A n.2765C>A c.1974C>A (p.Ile658=) c.999C>A (p.Ile333=) c.1713C>A (p.Ile571=) n.2509C>A n.2717C>A | gnomAD v4 COSMIC COSMIC |
1 | g.197427881C>G | CA344038253 | CRB1 | c.2556C>G (p.Ile852Met) c.1437C>G (p.Ile479Met) c.699C>G (p.Ile233Met) c.2220C>G (p.Ile740Met) c.2349C>G (p.Ile783Met) c.2128+5925C>G (n.2128+5925C>G) n.2557C>G n.2765C>G c.1974C>G (p.Ile658Met) c.999C>G (p.Ile333Met) c.1713C>G (p.Ile571Met) n.2509C>G n.2717C>G | |
1 | g.197427881C>T | CA422808914 | CRB1 | c.2556C>T (p.Ile852=) c.1437C>T (p.Ile479=) c.699C>T (p.Ile233=) c.2220C>T (p.Ile740=) c.2349C>T (p.Ile783=) c.2128+5925C>T (n.2128+5925C>T) n.2557C>T n.2765C>T c.1974C>T (p.Ile658=) c.999C>T (p.Ile333=) c.1713C>T (p.Ile571=) n.2509C>T n.2717C>T | |
1 | g.197427881_197427890del | CA2747247676 | CRB1 | c.2556_2565del (p.Gln853AspfsTer2) c.1437_1446del (p.Gln480AspfsTer2) c.699_708del (p.Gln234AspfsTer2) c.2220_2229del (p.Gln741AspfsTer2) c.2349_2358del (p.Gln784AspfsTer2) c.2128+5925_2128+5934del (n.2128+5925_2128+5934del) n.2557_2566del n.2765_2774del c.1974_1983del (p.Gln659AspfsTer2) c.999_1008del (p.Gln334AspfsTer2) c.1713_1722del (p.Gln572AspfsTer2) n.2509_2518del n.2717_2726del | |
1 | g.197427882C>A | CA344038263 | CRB1 | c.2557C>A (p.Gln853Lys) c.1438C>A (p.Gln480Lys) c.700C>A (p.Gln234Lys) c.2221C>A (p.Gln741Lys) c.2350C>A (p.Gln784Lys) c.2128+5926C>A (n.2128+5926C>A) n.2558C>A n.2766C>A c.1975C>A (p.Gln659Lys) c.1000C>A (p.Gln334Lys) c.1714C>A (p.Gln572Lys) n.2510C>A n.2718C>A | ClinVar |
1 | g.197427882C>G | CA344038261 | CRB1 | c.2557C>G (p.Gln853Glu) c.1438C>G (p.Gln480Glu) c.700C>G (p.Gln234Glu) c.2221C>G (p.Gln741Glu) c.2350C>G (p.Gln784Glu) c.2128+5926C>G (n.2128+5926C>G) n.2558C>G n.2766C>G c.1975C>G (p.Gln659Glu) c.1000C>G (p.Gln334Glu) c.1714C>G (p.Gln572Glu) n.2510C>G n.2718C>G | |
1 | g.197427882C>T | CA344038256 | CRB1 | c.2557C>T (p.Gln853Ter) c.1438C>T (p.Gln480Ter) c.700C>T (p.Gln234Ter) c.2221C>T (p.Gln741Ter) c.2350C>T (p.Gln784Ter) c.2128+5926C>T (n.2128+5926C>T) n.2558C>T n.2766C>T c.1975C>T (p.Gln659Ter) c.1000C>T (p.Gln334Ter) c.1714C>T (p.Gln572Ter) n.2510C>T n.2718C>T | |
1 | g.197427883A>C | CA344038264 | CRB1 | c.2558A>C (p.Gln853Pro) c.1439A>C (p.Gln480Pro) c.701A>C (p.Gln234Pro) c.2222A>C (p.Gln741Pro) c.2351A>C (p.Gln784Pro) c.2128+5927A>C (n.2128+5927A>C) n.2559A>C n.2767A>C c.1976A>C (p.Gln659Pro) c.1001A>C (p.Gln334Pro) c.1715A>C (p.Gln572Pro) n.2511A>C n.2719A>C | |
1 | g.197427883A>G | CA344038266 | CRB1 | c.2558A>G (p.Gln853Arg) c.1439A>G (p.Gln480Arg) c.701A>G (p.Gln234Arg) c.2222A>G (p.Gln741Arg) c.2351A>G (p.Gln784Arg) c.2128+5927A>G (n.2128+5927A>G) n.2559A>G n.2767A>G c.1976A>G (p.Gln659Arg) c.1001A>G (p.Gln334Arg) c.1715A>G (p.Gln572Arg) n.2511A>G n.2719A>G | |
1 | g.197427883A>T | CA344038268 | CRB1 | c.2558A>T (p.Gln853Leu) c.1439A>T (p.Gln480Leu) c.701A>T (p.Gln234Leu) c.2222A>T (p.Gln741Leu) c.2351A>T (p.Gln784Leu) c.2128+5927A>T (n.2128+5927A>T) n.2559A>T n.2767A>T c.1976A>T (p.Gln659Leu) c.1001A>T (p.Gln334Leu) c.1715A>T (p.Gln572Leu) n.2511A>T n.2719A>T | |
1 | g.197427887_197427893del | CA2586964526 | CRB1 | c.2562_2568del (p.Val855Ter) c.1443_1449del (p.Val482Ter) c.705_711del (p.Val236Ter) c.2226_2232del (p.Val743Ter) c.2355_2361del (p.Val786Ter) c.2128+5931_2128+5937del (n.2128+5931_2128+5937del) n.2563_2569del n.2771_2777del c.1980_1986del (p.Val661Ter) c.1005_1011del (p.Val336Ter) c.1719_1725del (p.Val574Ter) n.2515_2521del n.2723_2729del | |
1 | g.197427884A>C | CA344038271 | CRB1 | c.2559A>C (p.Gln853His) c.1440A>C (p.Gln480His) c.702A>C (p.Gln234His) c.2223A>C (p.Gln741His) c.2352A>C (p.Gln784His) c.2128+5928A>C (n.2128+5928A>C) n.2560A>C n.2768A>C c.1977A>C (p.Gln659His) c.1002A>C (p.Gln334His) c.1716A>C (p.Gln572His) n.2512A>C n.2720A>C | |
1 | g.197427884A>G | CA422808918 | CRB1 | c.2559A>G (p.Gln853=) c.1440A>G (p.Gln480=) c.702A>G (p.Gln234=) c.2223A>G (p.Gln741=) c.2352A>G (p.Gln784=) c.2128+5928A>G (n.2128+5928A>G) n.2560A>G n.2768A>G c.1977A>G (p.Gln659=) c.1002A>G (p.Gln334=) c.1716A>G (p.Gln572=) n.2512A>G n.2720A>G | |
1 | g.197427884A>T | CA344038273 | CRB1 | c.2559A>T (p.Gln853His) c.1440A>T (p.Gln480His) c.702A>T (p.Gln234His) c.2223A>T (p.Gln741His) c.2352A>T (p.Gln784His) c.2128+5928A>T (n.2128+5928A>T) n.2560A>T n.2768A>T c.1977A>T (p.Gln659His) c.1002A>T (p.Gln334His) c.1716A>T (p.Gln572His) n.2512A>T n.2720A>T | |
1 | g.197427885del | CA2649670189 | CRB1 | c.2560del (p.Asp854MetfsTer2) c.1441del (p.Asp481MetfsTer2) c.703del (p.Asp235MetfsTer2) c.2224del (p.Asp742MetfsTer2) c.2353del (p.Asp785MetfsTer2) c.2128+5929del (n.2128+5929del) n.2561del n.2769del c.1978del (p.Asp660MetfsTer2) c.1003del (p.Asp335MetfsTer2) c.1717del (p.Asp573MetfsTer2) n.2513del n.2721del | gnomAD v4 |
1 | g.197427885G>A | CA344038276 | CRB1 | c.2560G>A (p.Asp854Asn) c.1441G>A (p.Asp481Asn) c.703G>A (p.Asp235Asn) c.2224G>A (p.Asp742Asn) c.2353G>A (p.Asp785Asn) c.2128+5929G>A (n.2128+5929G>A) n.2561G>A n.2769G>A c.1978G>A (p.Asp660Asn) c.1003G>A (p.Asp335Asn) c.1717G>A (p.Asp573Asn) n.2513G>A n.2721G>A | gnomAD v4 |
1 | g.197427885G>C | CA344038278 | CRB1 | c.2560G>C (p.Asp854His) c.1441G>C (p.Asp481His) c.703G>C (p.Asp235His) c.2224G>C (p.Asp742His) c.2353G>C (p.Asp785His) c.2128+5929G>C (n.2128+5929G>C) n.2561G>C n.2769G>C c.1978G>C (p.Asp660His) c.1003G>C (p.Asp335His) c.1717G>C (p.Asp573His) n.2513G>C n.2721G>C | ClinVar dbSNP |
1 | g.197427885G= | CA1218066425 | CRB1 | c.2560G= (p.Asp854=) c.1441G= (p.Asp481=) c.703G= (p.Asp235=) c.2224G= (p.Asp742=) c.2353G= (p.Asp785=) c.2128+5929G= (n.2128+5929G=) n.2561G= n.2769G= c.1978G= (p.Asp660=) c.1003G= (p.Asp335=) c.1717G= (p.Asp573=) n.2513G= n.2721G= | |
1 | g.197427885G>T | CA344038280 | CRB1 | c.2560G>T (p.Asp854Tyr) c.1441G>T (p.Asp481Tyr) c.703G>T (p.Asp235Tyr) c.2224G>T (p.Asp742Tyr) c.2353G>T (p.Asp785Tyr) c.2128+5929G>T (n.2128+5929G>T) n.2561G>T n.2769G>T c.1978G>T (p.Asp660Tyr) c.1003G>T (p.Asp335Tyr) c.1717G>T (p.Asp573Tyr) n.2513G>T n.2721G>T | ClinVar dbSNP |
1 | g.197427886A>C | CA344038281 | CRB1 | c.2561A>C (p.Asp854Ala) c.1442A>C (p.Asp481Ala) c.704A>C (p.Asp235Ala) c.2225A>C (p.Asp742Ala) c.2354A>C (p.Asp785Ala) c.2128+5930A>C (n.2128+5930A>C) n.2562A>C n.2770A>C c.1979A>C (p.Asp660Ala) c.1004A>C (p.Asp335Ala) c.1718A>C (p.Asp573Ala) n.2514A>C n.2722A>C | |
1 | g.197427886A>G | CA344038282 | CRB1 | c.2561A>G (p.Asp854Gly) c.1442A>G (p.Asp481Gly) c.704A>G (p.Asp235Gly) c.2225A>G (p.Asp742Gly) c.2354A>G (p.Asp785Gly) c.2128+5930A>G (n.2128+5930A>G) n.2562A>G n.2770A>G c.1979A>G (p.Asp660Gly) c.1004A>G (p.Asp335Gly) c.1718A>G (p.Asp573Gly) n.2514A>G n.2722A>G | |
1 | g.197427886A>T | CA344038283 | CRB1 | c.2561A>T (p.Asp854Val) c.1442A>T (p.Asp481Val) c.704A>T (p.Asp235Val) c.2225A>T (p.Asp742Val) c.2354A>T (p.Asp785Val) c.2128+5930A>T (n.2128+5930A>T) n.2562A>T n.2770A>T c.1979A>T (p.Asp660Val) c.1004A>T (p.Asp335Val) c.1718A>T (p.Asp573Val) n.2514A>T n.2722A>T | |
1 | g.197427887T>A | CA344038286 | CRB1 | c.2562T>A (p.Asp854Glu) c.1443T>A (p.Asp481Glu) c.705T>A (p.Asp235Glu) c.2226T>A (p.Asp742Glu) c.2355T>A (p.Asp785Glu) c.2128+5931T>A (n.2128+5931T>A) n.2563T>A n.2771T>A c.1980T>A (p.Asp660Glu) c.1005T>A (p.Asp335Glu) c.1719T>A (p.Asp573Glu) n.2515T>A n.2723T>A | COSMIC COSMIC |
1 | g.197427887T>C | CA422808921 | CRB1 | c.2562T>C (p.Asp854=) c.1443T>C (p.Asp481=) c.705T>C (p.Asp235=) c.2226T>C (p.Asp742=) c.2355T>C (p.Asp785=) c.2128+5931T>C (n.2128+5931T>C) n.2563T>C n.2771T>C c.1980T>C (p.Asp660=) c.1005T>C (p.Asp335=) c.1719T>C (p.Asp573=) n.2515T>C n.2723T>C | |
1 | g.197427887T>G | CA344038288 | CRB1 | c.2562T>G (p.Asp854Glu) c.1443T>G (p.Asp481Glu) c.705T>G (p.Asp235Glu) c.2226T>G (p.Asp742Glu) c.2355T>G (p.Asp785Glu) c.2128+5931T>G (n.2128+5931T>G) n.2563T>G n.2771T>G c.1980T>G (p.Asp660Glu) c.1005T>G (p.Asp335Glu) c.1719T>G (p.Asp573Glu) n.2515T>G n.2723T>G | |
1 | g.197427888G>A | CA1312142 | CRB1 | c.2563G>A (p.Val855Ile) c.1444G>A (p.Val482Ile) c.706G>A (p.Val236Ile) c.2227G>A (p.Val743Ile) c.2356G>A (p.Val786Ile) c.2128+5932G>A (n.2128+5932G>A) n.2564G>A n.2772G>A c.1981G>A (p.Val661Ile) c.1006G>A (p.Val336Ile) c.1720G>A (p.Val574Ile) n.2516G>A n.2724G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427888G>C | CA344038293 | CRB1 | c.2563G>C (p.Val855Leu) c.1444G>C (p.Val482Leu) c.706G>C (p.Val236Leu) c.2227G>C (p.Val743Leu) c.2356G>C (p.Val786Leu) c.2128+5932G>C (n.2128+5932G>C) n.2564G>C n.2772G>C c.1981G>C (p.Val661Leu) c.1006G>C (p.Val336Leu) c.1720G>C (p.Val574Leu) n.2516G>C n.2724G>C | |
1 | g.197427888G= | CA1146572757 | CRB1 | c.2563G= (p.Val855=) c.1444G= (p.Val482=) c.706G= (p.Val236=) c.2227G= (p.Val743=) c.2356G= (p.Val786=) c.2128+5932G= (n.2128+5932G=) n.2564G= n.2772G= c.1981G= (p.Val661=) c.1006G= (p.Val336=) c.1720G= (p.Val574=) n.2516G= n.2724G= | |
1 | g.197427888G>T | CA344038290 | CRB1 | c.2563G>T (p.Val855Leu) c.1444G>T (p.Val482Leu) c.706G>T (p.Val236Leu) c.2227G>T (p.Val743Leu) c.2356G>T (p.Val786Leu) c.2128+5932G>T (n.2128+5932G>T) n.2564G>T n.2772G>T c.1981G>T (p.Val661Leu) c.1006G>T (p.Val336Leu) c.1720G>T (p.Val574Leu) n.2516G>T n.2724G>T | |
1 | g.197427889T>A | CA344038296 | CRB1 | c.2564T>A (p.Val855Glu) c.1445T>A (p.Val482Glu) c.707T>A (p.Val236Glu) c.2228T>A (p.Val743Glu) c.2357T>A (p.Val786Glu) c.2128+5933T>A (n.2128+5933T>A) n.2565T>A n.2773T>A c.1982T>A (p.Val661Glu) c.1007T>A (p.Val336Glu) c.1721T>A (p.Val574Glu) n.2517T>A n.2725T>A | |
1 | g.197427889T>C | CA344038300 | CRB1 | c.2564T>C (p.Val855Ala) c.1445T>C (p.Val482Ala) c.707T>C (p.Val236Ala) c.2228T>C (p.Val743Ala) c.2357T>C (p.Val786Ala) c.2128+5933T>C (n.2128+5933T>C) n.2565T>C n.2773T>C c.1982T>C (p.Val661Ala) c.1007T>C (p.Val336Ala) c.1721T>C (p.Val574Ala) n.2517T>C n.2725T>C | |
1 | g.197427889T>G | CA344038298 | CRB1 | c.2564T>G (p.Val855Gly) c.1445T>G (p.Val482Gly) c.707T>G (p.Val236Gly) c.2228T>G (p.Val743Gly) c.2357T>G (p.Val786Gly) c.2128+5933T>G (n.2128+5933T>G) n.2565T>G n.2773T>G c.1982T>G (p.Val661Gly) c.1007T>G (p.Val336Gly) c.1721T>G (p.Val574Gly) n.2517T>G n.2725T>G | |
1 | g.197427890A= | CA1218066434 | CRB1 | c.2565A= (p.Val855=) c.1446A= (p.Val482=) c.708A= (p.Val236=) c.2229A= (p.Val743=) c.2358A= (p.Val786=) c.2128+5934A= (n.2128+5934A=) n.2566A= n.2774A= c.1983A= (p.Val661=) c.1008A= (p.Val336=) c.1722A= (p.Val574=) n.2518A= n.2726A= | |
1 | g.197427890A>C | CA422808924 | CRB1 | c.2565A>C (p.Val855=) c.1446A>C (p.Val482=) c.708A>C (p.Val236=) c.2229A>C (p.Val743=) c.2358A>C (p.Val786=) c.2128+5934A>C (n.2128+5934A>C) n.2566A>C n.2774A>C c.1983A>C (p.Val661=) c.1008A>C (p.Val336=) c.1722A>C (p.Val574=) n.2518A>C n.2726A>C | |
1 | g.197427890A>G | CA422808925 | CRB1 | c.2565A>G (p.Val855=) c.1446A>G (p.Val482=) c.708A>G (p.Val236=) c.2229A>G (p.Val743=) c.2358A>G (p.Val786=) c.2128+5934A>G (n.2128+5934A>G) n.2566A>G n.2774A>G c.1983A>G (p.Val661=) c.1008A>G (p.Val336=) c.1722A>G (p.Val574=) n.2518A>G n.2726A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427890A>T | CA422808927 | CRB1 | c.2565A>T (p.Val855=) c.1446A>T (p.Val482=) c.708A>T (p.Val236=) c.2229A>T (p.Val743=) c.2358A>T (p.Val786=) c.2128+5934A>T (n.2128+5934A>T) n.2566A>T n.2774A>T c.1983A>T (p.Val661=) c.1008A>T (p.Val336=) c.1722A>T (p.Val574=) n.2518A>T n.2726A>T | |
1 | g.197427891A>C | CA422808928 | CRB1 | c.2566A>C (p.Arg856=) c.1447A>C (p.Arg483=) c.709A>C (p.Arg237=) c.2230A>C (p.Arg744=) c.2359A>C (p.Arg787=) c.2128+5935A>C (n.2128+5935A>C) n.2567A>C n.2775A>C c.1984A>C (p.Arg662=) c.1009A>C (p.Arg337=) c.1723A>C (p.Arg575=) n.2519A>C n.2727A>C | |
1 | g.197427891A>G | CA344038302 | CRB1 | c.2566A>G (p.Arg856Gly) c.1447A>G (p.Arg483Gly) c.709A>G (p.Arg237Gly) c.2230A>G (p.Arg744Gly) c.2359A>G (p.Arg787Gly) c.2128+5935A>G (n.2128+5935A>G) n.2567A>G n.2775A>G c.1984A>G (p.Arg662Gly) c.1009A>G (p.Arg337Gly) c.1723A>G (p.Arg575Gly) n.2519A>G n.2727A>G | |
1 | g.197427891A>T | CA344038304 | CRB1 | c.2566A>T (p.Arg856Ter) c.1447A>T (p.Arg483Ter) c.709A>T (p.Arg237Ter) c.2230A>T (p.Arg744Ter) c.2359A>T (p.Arg787Ter) c.2128+5935A>T (n.2128+5935A>T) n.2567A>T n.2775A>T c.1984A>T (p.Arg662Ter) c.1009A>T (p.Arg337Ter) c.1723A>T (p.Arg575Ter) n.2519A>T n.2727A>T | |
1 | g.197427892G>A | CA344038307 | CRB1 | c.2567G>A (p.Arg856Lys) c.1448G>A (p.Arg483Lys) c.710G>A (p.Arg237Lys) c.2231G>A (p.Arg744Lys) c.2360G>A (p.Arg787Lys) c.2128+5936G>A (n.2128+5936G>A) n.2568G>A n.2776G>A c.1985G>A (p.Arg662Lys) c.1010G>A (p.Arg337Lys) c.1724G>A (p.Arg575Lys) n.2520G>A n.2728G>A | ClinVar gnomAD v4 |
1 | g.197427892G>C | CA344038308 | CRB1 | c.2567G>C (p.Arg856Thr) c.1448G>C (p.Arg483Thr) c.710G>C (p.Arg237Thr) c.2231G>C (p.Arg744Thr) c.2360G>C (p.Arg787Thr) c.2128+5936G>C (n.2128+5936G>C) n.2568G>C n.2776G>C c.1985G>C (p.Arg662Thr) c.1010G>C (p.Arg337Thr) c.1724G>C (p.Arg575Thr) n.2520G>C n.2728G>C | |
1 | g.197427892G>T | CA344038312 | CRB1 | c.2567G>T (p.Arg856Ile) c.1448G>T (p.Arg483Ile) c.710G>T (p.Arg237Ile) c.2231G>T (p.Arg744Ile) c.2360G>T (p.Arg787Ile) c.2128+5936G>T (n.2128+5936G>T) n.2568G>T n.2776G>T c.1985G>T (p.Arg662Ile) c.1010G>T (p.Arg337Ile) c.1724G>T (p.Arg575Ile) n.2520G>T n.2728G>T | |
1 | g.197427893A= | CA1218066436 | CRB1 | c.2568A= (p.Arg856=) c.1449A= (p.Arg483=) c.711A= (p.Arg237=) c.2232A= (p.Arg744=) c.2361A= (p.Arg787=) c.2128+5937A= (n.2128+5937A=) n.2569A= n.2777A= c.1986A= (p.Arg662=) c.1011A= (p.Arg337=) c.1725A= (p.Arg575=) n.2521A= n.2729A= | |
1 | g.197427893A>C | CA344038315 | CRB1 | c.2568A>C (p.Arg856Ser) c.1449A>C (p.Arg483Ser) c.711A>C (p.Arg237Ser) c.2232A>C (p.Arg744Ser) c.2361A>C (p.Arg787Ser) c.2128+5937A>C (n.2128+5937A>C) n.2569A>C n.2777A>C c.1986A>C (p.Arg662Ser) c.1011A>C (p.Arg337Ser) c.1725A>C (p.Arg575Ser) n.2521A>C n.2729A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427893A>G | CA422808929 | CRB1 | c.2568A>G (p.Arg856=) c.1449A>G (p.Arg483=) c.711A>G (p.Arg237=) c.2232A>G (p.Arg744=) c.2361A>G (p.Arg787=) c.2128+5937A>G (n.2128+5937A>G) n.2569A>G n.2777A>G c.1986A>G (p.Arg662=) c.1011A>G (p.Arg337=) c.1725A>G (p.Arg575=) n.2521A>G n.2729A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427893A>T | CA344038317 | CRB1 | c.2568A>T (p.Arg856Ser) c.1449A>T (p.Arg483Ser) c.711A>T (p.Arg237Ser) c.2232A>T (p.Arg744Ser) c.2361A>T (p.Arg787Ser) c.2128+5937A>T (n.2128+5937A>T) n.2569A>T n.2777A>T c.1986A>T (p.Arg662Ser) c.1011A>T (p.Arg337Ser) c.1725A>T (p.Arg575Ser) n.2521A>T n.2729A>T | |
1 | g.197427895_197427899del | CA2695199947 | CRB1 | c.2570_2574del (p.Leu857GlnfsTer?) c.1451_1455del (p.Leu484GlnfsTer?) c.713_717del (p.Leu238GlnfsTer?) c.2234_2238del (p.Leu745GlnfsTer?) c.2363_2367del (p.Leu788GlnfsTer?) c.2128+5939_2128+5943del (n.2128+5939_2128+5943del) n.2571_2575del n.2779_2783del c.1988_1992del (p.Leu663GlnfsTer?) c.1013_1017del (p.Leu338GlnfsTer?) c.1727_1731del (p.Leu576GlnfsTer?) n.2523_2527del n.2731_2735del | ClinVar |
1 | g.197427894_197427907del | CA2649670206 | CRB1 | c.2569_2582del (p.Leu857SerfsTer?) c.1450_1463del (p.Leu484SerfsTer?) c.712_725del (p.Leu238SerfsTer?) c.2233_2246del (p.Leu745SerfsTer?) c.2362_2375del (p.Leu788SerfsTer?) c.2128+5938_2128+5951del (n.2128+5938_2128+5951del) n.2570_2583del n.2778_2791del c.1987_2000del (p.Leu663SerfsTer?) c.1012_1025del (p.Leu338SerfsTer?) c.1726_1739del (p.Leu576SerfsTer?) n.2522_2535del n.2730_2743del | gnomAD v4 |
1 | g.197427894C>A | CA344038318 | CRB1 | c.2569C>A (p.Leu857Ile) c.1450C>A (p.Leu484Ile) c.712C>A (p.Leu238Ile) c.2233C>A (p.Leu745Ile) c.2362C>A (p.Leu788Ile) c.2128+5938C>A (n.2128+5938C>A) n.2570C>A n.2778C>A c.1987C>A (p.Leu663Ile) c.1012C>A (p.Leu338Ile) c.1726C>A (p.Leu576Ile) n.2522C>A n.2730C>A | |
1 | g.197427894C= | CA1218066438 | CRB1 | c.2569C= (p.Leu857=) c.1450C= (p.Leu484=) c.712C= (p.Leu238=) c.2233C= (p.Leu745=) c.2362C= (p.Leu788=) c.2128+5938C= (n.2128+5938C=) n.2570C= n.2778C= c.1987C= (p.Leu663=) c.1012C= (p.Leu338=) c.1726C= (p.Leu576=) n.2522C= n.2730C= | |
1 | g.197427894C>G | CA344038320 | CRB1 | c.2569C>G (p.Leu857Val) c.1450C>G (p.Leu484Val) c.712C>G (p.Leu238Val) c.2233C>G (p.Leu745Val) c.2362C>G (p.Leu788Val) c.2128+5938C>G (n.2128+5938C>G) n.2570C>G n.2778C>G c.1987C>G (p.Leu663Val) c.1012C>G (p.Leu338Val) c.1726C>G (p.Leu576Val) n.2522C>G n.2730C>G | |
1 | g.197427894C>T | CA422808931 | CRB1 | c.2569C>T (p.Leu857=) c.1450C>T (p.Leu484=) c.712C>T (p.Leu238=) c.2233C>T (p.Leu745=) c.2362C>T (p.Leu788=) c.2128+5938C>T (n.2128+5938C>T) n.2570C>T n.2778C>T c.1987C>T (p.Leu663=) c.1012C>T (p.Leu338=) c.1726C>T (p.Leu576=) n.2522C>T n.2730C>T | ClinVar dbSNP |
1 | g.197427895T>A | CA344038323 | CRB1 | c.2570T>A (p.Leu857Gln) c.1451T>A (p.Leu484Gln) c.713T>A (p.Leu238Gln) c.2234T>A (p.Leu745Gln) c.2363T>A (p.Leu788Gln) c.2128+5939T>A (n.2128+5939T>A) n.2571T>A n.2779T>A c.1988T>A (p.Leu663Gln) c.1013T>A (p.Leu338Gln) c.1727T>A (p.Leu576Gln) n.2523T>A n.2731T>A | |
1 | g.197427895T>C | CA344038324 | CRB1 | c.2570T>C (p.Leu857Pro) c.1451T>C (p.Leu484Pro) c.713T>C (p.Leu238Pro) c.2234T>C (p.Leu745Pro) c.2363T>C (p.Leu788Pro) c.2128+5939T>C (n.2128+5939T>C) n.2571T>C n.2779T>C c.1988T>C (p.Leu663Pro) c.1013T>C (p.Leu338Pro) c.1727T>C (p.Leu576Pro) n.2523T>C n.2731T>C | gnomAD v4 |
1 | g.197427895T>G | CA344038325 | CRB1 | c.2570T>G (p.Leu857Arg) c.1451T>G (p.Leu484Arg) c.713T>G (p.Leu238Arg) c.2234T>G (p.Leu745Arg) c.2363T>G (p.Leu788Arg) c.2128+5939T>G (n.2128+5939T>G) n.2571T>G n.2779T>G c.1988T>G (p.Leu663Arg) c.1013T>G (p.Leu338Arg) c.1727T>G (p.Leu576Arg) n.2523T>G n.2731T>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427895T= | CA1218066443 | CRB1 | c.2570T= (p.Leu857=) c.1451T= (p.Leu484=) c.713T= (p.Leu238=) c.2234T= (p.Leu745=) c.2363T= (p.Leu788=) c.2128+5939T= (n.2128+5939T=) n.2571T= n.2779T= c.1988T= (p.Leu663=) c.1013T= (p.Leu338=) c.1727T= (p.Leu576=) n.2523T= n.2731T= | |
1 | g.197427895dup | CA2573131447 | CRB1 | c.2570dup (p.Asn858LysfsTer?) c.1451dup (p.Asn485LysfsTer?) c.713dup (p.Asn239LysfsTer?) c.2234dup (p.Asn746LysfsTer?) c.2363dup (p.Asn789LysfsTer?) c.2128+5939dup (n.2128+5939dup) n.2571dup n.2779dup c.1988dup (p.Asn664LysfsTer?) c.1013dup (p.Asn339LysfsTer?) c.1727dup (p.Asn577LysfsTer?) n.2523dup n.2731dup | ClinVar dbSNP |
1 | g.197427896A>C | CA422808932 | CRB1 | c.2571A>C (p.Leu857=) c.1452A>C (p.Leu484=) c.714A>C (p.Leu238=) c.2235A>C (p.Leu745=) c.2364A>C (p.Leu788=) c.2128+5940A>C (n.2128+5940A>C) n.2572A>C n.2780A>C c.1989A>C (p.Leu663=) c.1014A>C (p.Leu338=) c.1728A>C (p.Leu576=) n.2524A>C n.2732A>C | |
1 | g.197427896A>G | CA422808935 | CRB1 | c.2571A>G (p.Leu857=) c.1452A>G (p.Leu484=) c.714A>G (p.Leu238=) c.2235A>G (p.Leu745=) c.2364A>G (p.Leu788=) c.2128+5940A>G (n.2128+5940A>G) n.2572A>G n.2780A>G c.1989A>G (p.Leu663=) c.1014A>G (p.Leu338=) c.1728A>G (p.Leu576=) n.2524A>G n.2732A>G | |
1 | g.197427896A>T | CA422808933 | CRB1 | c.2571A>T (p.Leu857=) c.1452A>T (p.Leu484=) c.714A>T (p.Leu238=) c.2235A>T (p.Leu745=) c.2364A>T (p.Leu788=) c.2128+5940A>T (n.2128+5940A>T) n.2572A>T n.2780A>T c.1989A>T (p.Leu663=) c.1014A>T (p.Leu338=) c.1728A>T (p.Leu576=) n.2524A>T n.2732A>T | |
1 | g.197427897A= | CA1218066445 | CRB1 | c.2572A= (p.Asn858=) c.1453A= (p.Asn485=) c.715A= (p.Asn239=) c.2236A= (p.Asn746=) c.2365A= (p.Asn789=) c.2128+5941A= (n.2128+5941A=) n.2573A= n.2781A= c.1990A= (p.Asn664=) c.1015A= (p.Asn339=) c.1729A= (p.Asn577=) n.2525A= n.2733A= | |
1 | g.197427897A>C | CA344038331 | CRB1 | c.2572A>C (p.Asn858His) c.1453A>C (p.Asn485His) c.715A>C (p.Asn239His) c.2236A>C (p.Asn746His) c.2365A>C (p.Asn789His) c.2128+5941A>C (n.2128+5941A>C) n.2573A>C n.2781A>C c.1990A>C (p.Asn664His) c.1015A>C (p.Asn339His) c.1729A>C (p.Asn577His) n.2525A>C n.2733A>C | |
1 | g.197427897A>G | CA344038327 | CRB1 | c.2572A>G (p.Asn858Asp) c.1453A>G (p.Asn485Asp) c.715A>G (p.Asn239Asp) c.2236A>G (p.Asn746Asp) c.2365A>G (p.Asn789Asp) c.2128+5941A>G (n.2128+5941A>G) n.2573A>G n.2781A>G c.1990A>G (p.Asn664Asp) c.1015A>G (p.Asn339Asp) c.1729A>G (p.Asn577Asp) n.2525A>G n.2733A>G | |
1 | g.197427897A>T | CA344038329 | CRB1 | c.2572A>T (p.Asn858Tyr) c.1453A>T (p.Asn485Tyr) c.715A>T (p.Asn239Tyr) c.2236A>T (p.Asn746Tyr) c.2365A>T (p.Asn789Tyr) c.2128+5941A>T (n.2128+5941A>T) n.2573A>T n.2781A>T c.1990A>T (p.Asn664Tyr) c.1015A>T (p.Asn339Tyr) c.1729A>T (p.Asn577Tyr) n.2525A>T n.2733A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427898A>C | CA344038333 | CRB1 | c.2573A>C (p.Asn858Thr) c.1454A>C (p.Asn485Thr) c.716A>C (p.Asn239Thr) c.2237A>C (p.Asn746Thr) c.2366A>C (p.Asn789Thr) c.2128+5942A>C (n.2128+5942A>C) n.2574A>C n.2782A>C c.1991A>C (p.Asn664Thr) c.1016A>C (p.Asn339Thr) c.1730A>C (p.Asn577Thr) n.2526A>C n.2734A>C | |
1 | g.197427898A>G | CA344038335 | CRB1 | c.2573A>G (p.Asn858Ser) c.1454A>G (p.Asn485Ser) c.716A>G (p.Asn239Ser) c.2237A>G (p.Asn746Ser) c.2366A>G (p.Asn789Ser) c.2128+5942A>G (n.2128+5942A>G) n.2574A>G n.2782A>G c.1991A>G (p.Asn664Ser) c.1016A>G (p.Asn339Ser) c.1730A>G (p.Asn577Ser) n.2526A>G n.2734A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427898A>T | CA344038338 | CRB1 | c.2573A>T (p.Asn858Ile) c.1454A>T (p.Asn485Ile) c.716A>T (p.Asn239Ile) c.2237A>T (p.Asn746Ile) c.2366A>T (p.Asn789Ile) c.2128+5942A>T (n.2128+5942A>T) n.2574A>T n.2782A>T c.1991A>T (p.Asn664Ile) c.1016A>T (p.Asn339Ile) c.1730A>T (p.Asn577Ile) n.2526A>T n.2734A>T | |
1 | g.197427899C>A | CA344038342 | CRB1 | c.2574C>A (p.Asn858Lys) c.1455C>A (p.Asn485Lys) c.717C>A (p.Asn239Lys) c.2238C>A (p.Asn746Lys) c.2367C>A (p.Asn789Lys) c.2128+5943C>A (n.2128+5943C>A) n.2575C>A n.2783C>A c.1992C>A (p.Asn664Lys) c.1017C>A (p.Asn339Lys) c.1731C>A (p.Asn577Lys) n.2527C>A n.2735C>A | |
1 | g.197427899C>G | CA344038343 | CRB1 | c.2574C>G (p.Asn858Lys) c.1455C>G (p.Asn485Lys) c.717C>G (p.Asn239Lys) c.2238C>G (p.Asn746Lys) c.2367C>G (p.Asn789Lys) c.2128+5943C>G (n.2128+5943C>G) n.2575C>G n.2783C>G c.1992C>G (p.Asn664Lys) c.1017C>G (p.Asn339Lys) c.1731C>G (p.Asn577Lys) n.2527C>G n.2735C>G | |
1 | g.197427899C>T | CA422808940 | CRB1 | c.2574C>T (p.Asn858=) c.1455C>T (p.Asn485=) c.717C>T (p.Asn239=) c.2238C>T (p.Asn746=) c.2367C>T (p.Asn789=) c.2128+5943C>T (n.2128+5943C>T) n.2575C>T n.2783C>T c.1992C>T (p.Asn664=) c.1017C>T (p.Asn339=) c.1731C>T (p.Asn577=) n.2527C>T n.2735C>T | ClinVar dbSNP |
1 | g.197427900A>C | CA344038345 | CRB1 | c.2575A>C (p.Asn859His) c.1456A>C (p.Asn486His) c.718A>C (p.Asn240His) c.2239A>C (p.Asn747His) c.2368A>C (p.Asn790His) c.2128+5944A>C (n.2128+5944A>C) n.2576A>C n.2784A>C c.1993A>C (p.Asn665His) c.1018A>C (p.Asn340His) c.1732A>C (p.Asn578His) n.2528A>C n.2736A>C | |
1 | g.197427900A>G | CA344038347 | CRB1 | c.2575A>G (p.Asn859Asp) c.1456A>G (p.Asn486Asp) c.718A>G (p.Asn240Asp) c.2239A>G (p.Asn747Asp) c.2368A>G (p.Asn790Asp) c.2128+5944A>G (n.2128+5944A>G) n.2576A>G n.2784A>G c.1993A>G (p.Asn665Asp) c.1018A>G (p.Asn340Asp) c.1732A>G (p.Asn578Asp) n.2528A>G n.2736A>G | |
1 | g.197427900A>T | CA344038349 | CRB1 | c.2575A>T (p.Asn859Tyr) c.1456A>T (p.Asn486Tyr) c.718A>T (p.Asn240Tyr) c.2239A>T (p.Asn747Tyr) c.2368A>T (p.Asn790Tyr) c.2128+5944A>T (n.2128+5944A>T) n.2576A>T n.2784A>T c.1993A>T (p.Asn665Tyr) c.1018A>T (p.Asn340Tyr) c.1732A>T (p.Asn578Tyr) n.2528A>T n.2736A>T | |
1 | g.197427901A= | CA1218066447 | CRB1 | c.2576A= (p.Asn859=) c.1457A= (p.Asn486=) c.719A= (p.Asn240=) c.2240A= (p.Asn747=) c.2369A= (p.Asn790=) c.2128+5945A= (n.2128+5945A=) n.2577A= n.2785A= c.1994A= (p.Asn665=) c.1019A= (p.Asn340=) c.1733A= (p.Asn578=) n.2529A= n.2737A= | |
1 | g.197427901A>C | CA344038352 | CRB1 | c.2576A>C (p.Asn859Thr) c.1457A>C (p.Asn486Thr) c.719A>C (p.Asn240Thr) c.2240A>C (p.Asn747Thr) c.2369A>C (p.Asn790Thr) c.2128+5945A>C (n.2128+5945A>C) n.2577A>C n.2785A>C c.1994A>C (p.Asn665Thr) c.1019A>C (p.Asn340Thr) c.1733A>C (p.Asn578Thr) n.2529A>C n.2737A>C | |
1 | g.197427901A>G | CA344038354 | CRB1 | c.2576A>G (p.Asn859Ser) c.1457A>G (p.Asn486Ser) c.719A>G (p.Asn240Ser) c.2240A>G (p.Asn747Ser) c.2369A>G (p.Asn790Ser) c.2128+5945A>G (n.2128+5945A>G) n.2577A>G n.2785A>G c.1994A>G (p.Asn665Ser) c.1019A>G (p.Asn340Ser) c.1733A>G (p.Asn578Ser) n.2529A>G n.2737A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427901A>T | CA344038356 | CRB1 | c.2576A>T (p.Asn859Ile) c.1457A>T (p.Asn486Ile) c.719A>T (p.Asn240Ile) c.2240A>T (p.Asn747Ile) c.2369A>T (p.Asn790Ile) c.2128+5945A>T (n.2128+5945A>T) n.2577A>T n.2785A>T c.1994A>T (p.Asn665Ile) c.1019A>T (p.Asn340Ile) c.1733A>T (p.Asn578Ile) n.2529A>T n.2737A>T | |
1 | g.197427901_197427902delinsAC | CA1218066449 | CRB1 | c.2576_2577delinsAC (p.Asn859=) c.1457_1458delinsAC (p.Asn486=) c.719_720delinsAC (p.Asn240=) c.2240_2241delinsAC (p.Asn747=) c.2369_2370delinsAC (p.Asn790=) c.2128+5945_2128+5946delinsAC (n.2128+5945_2128+5946delinsAC) n.2577_2578delinsAC n.2785_2786delinsAC c.1994_1995delinsAC (p.Asn665=) c.1019_1020delinsAC (p.Asn340=) c.1733_1734delinsAC (p.Asn578=) n.2529_2530delinsAC n.2737_2738delinsAC | |
1 | g.197427902C>A | CA1312143 | CRB1 | c.2577C>A (p.Asn859Lys) c.1458C>A (p.Asn486Lys) c.720C>A (p.Asn240Lys) c.2241C>A (p.Asn747Lys) c.2370C>A (p.Asn790Lys) c.2128+5946C>A (n.2128+5946C>A) n.2578C>A n.2786C>A c.1995C>A (p.Asn665Lys) c.1020C>A (p.Asn340Lys) c.1734C>A (p.Asn578Lys) n.2530C>A n.2738C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427902C= | CA1218066457 | CRB1 | c.2577C= (p.Asn859=) c.1458C= (p.Asn486=) c.720C= (p.Asn240=) c.2241C= (p.Asn747=) c.2370C= (p.Asn790=) c.2128+5946C= (n.2128+5946C=) n.2578C= n.2786C= c.1995C= (p.Asn665=) c.1020C= (p.Asn340=) c.1734C= (p.Asn578=) n.2530C= n.2738C= | |
1 | g.197427902C>G | CA344038361 | CRB1 | c.2577C>G (p.Asn859Lys) c.1458C>G (p.Asn486Lys) c.720C>G (p.Asn240Lys) c.2241C>G (p.Asn747Lys) c.2370C>G (p.Asn790Lys) c.2128+5946C>G (n.2128+5946C>G) n.2578C>G n.2786C>G c.1995C>G (p.Asn665Lys) c.1020C>G (p.Asn340Lys) c.1734C>G (p.Asn578Lys) n.2530C>G n.2738C>G | |
1 | g.197427902C>T | CA422808942 | CRB1 | c.2577C>T (p.Asn859=) c.1458C>T (p.Asn486=) c.720C>T (p.Asn240=) c.2241C>T (p.Asn747=) c.2370C>T (p.Asn790=) c.2128+5946C>T (n.2128+5946C>T) n.2578C>T n.2786C>T c.1995C>T (p.Asn665=) c.1020C>T (p.Asn340=) c.1734C>T (p.Asn578=) n.2530C>T n.2738C>T | gnomAD v4 |
1 | g.197427903del | CA528535358 | CRB1 | c.2578del (p.Gln860LysfsTer22) c.1459del (p.Gln487LysfsTer22) c.721del (p.Gln241LysfsTer22) c.2242del (p.Gln748LysfsTer22) c.2371del (p.Gln791LysfsTer22) c.2128+5947del (n.2128+5947del) n.2579del n.2787del c.1996del (p.Gln666LysfsTer22) c.1021del (p.Gln341LysfsTer22) c.1735del (p.Gln579LysfsTer22) n.2531del n.2739del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427903C>A | CA344038364 | CRB1 | c.2578C>A (p.Gln860Lys) c.1459C>A (p.Gln487Lys) c.721C>A (p.Gln241Lys) c.2242C>A (p.Gln748Lys) c.2371C>A (p.Gln791Lys) c.2128+5947C>A (n.2128+5947C>A) n.2579C>A n.2787C>A c.1996C>A (p.Gln666Lys) c.1021C>A (p.Gln341Lys) c.1735C>A (p.Gln579Lys) n.2531C>A n.2739C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427903C= | CA1218066460 | CRB1 | c.2578C= (p.Gln860=) c.1459C= (p.Gln487=) c.721C= (p.Gln241=) c.2242C= (p.Gln748=) c.2371C= (p.Gln791=) c.2128+5947C= (n.2128+5947C=) n.2579C= n.2787C= c.1996C= (p.Gln666=) c.1021C= (p.Gln341=) c.1735C= (p.Gln579=) n.2531C= n.2739C= | |
1 | g.197427903C>G | CA344038366 | CRB1 | c.2578C>G (p.Gln860Glu) c.1459C>G (p.Gln487Glu) c.721C>G (p.Gln241Glu) c.2242C>G (p.Gln748Glu) c.2371C>G (p.Gln791Glu) c.2128+5947C>G (n.2128+5947C>G) n.2579C>G n.2787C>G c.1996C>G (p.Gln666Glu) c.1021C>G (p.Gln341Glu) c.1735C>G (p.Gln579Glu) n.2531C>G n.2739C>G | |
1 | g.197427903C>T | CA344038368 | CRB1 | c.2578C>T (p.Gln860Ter) c.1459C>T (p.Gln487Ter) c.721C>T (p.Gln241Ter) c.2242C>T (p.Gln748Ter) c.2371C>T (p.Gln791Ter) c.2128+5947C>T (n.2128+5947C>T) n.2579C>T n.2787C>T c.1996C>T (p.Gln666Ter) c.1021C>T (p.Gln341Ter) c.1735C>T (p.Gln579Ter) n.2531C>T n.2739C>T | dbSNP |
1 | g.197427904A= | CA1218066462 | CRB1 | c.2579A= (p.Gln860=) c.1460A= (p.Gln487=) c.722A= (p.Gln241=) c.2243A= (p.Gln748=) c.2372A= (p.Gln791=) c.2128+5948A= (n.2128+5948A=) n.2580A= n.2788A= c.1997A= (p.Gln666=) c.1022A= (p.Gln341=) c.1736A= (p.Gln579=) n.2532A= n.2740A= | |
1 | g.197427904A>C | CA344038370 | CRB1 | c.2579A>C (p.Gln860Pro) c.1460A>C (p.Gln487Pro) c.722A>C (p.Gln241Pro) c.2243A>C (p.Gln748Pro) c.2372A>C (p.Gln791Pro) c.2128+5948A>C (n.2128+5948A>C) n.2580A>C n.2788A>C c.1997A>C (p.Gln666Pro) c.1022A>C (p.Gln341Pro) c.1736A>C (p.Gln579Pro) n.2532A>C n.2740A>C | |
1 | g.197427904A>G | CA344038371 | CRB1 | c.2579A>G (p.Gln860Arg) c.1460A>G (p.Gln487Arg) c.722A>G (p.Gln241Arg) c.2243A>G (p.Gln748Arg) c.2372A>G (p.Gln791Arg) c.2128+5948A>G (n.2128+5948A>G) n.2580A>G n.2788A>G c.1997A>G (p.Gln666Arg) c.1022A>G (p.Gln341Arg) c.1736A>G (p.Gln579Arg) n.2532A>G n.2740A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427904A>T | CA344038373 | CRB1 | c.2579A>T (p.Gln860Leu) c.1460A>T (p.Gln487Leu) c.722A>T (p.Gln241Leu) c.2243A>T (p.Gln748Leu) c.2372A>T (p.Gln791Leu) c.2128+5948A>T (n.2128+5948A>T) n.2580A>T n.2788A>T c.1997A>T (p.Gln666Leu) c.1022A>T (p.Gln341Leu) c.1736A>T (p.Gln579Leu) n.2532A>T n.2740A>T | |
1 | g.197427907del | CA2586964527 | CRB1 | c.2582del (p.Asn861IlefsTer21) c.1463del (p.Asn488IlefsTer21) c.725del (p.Asn242IlefsTer21) c.2246del (p.Asn749IlefsTer21) c.2375del (p.Asn792IlefsTer21) c.2128+5951del (n.2128+5951del) n.2583del n.2791del c.2000del (p.Asn667IlefsTer21) c.1025del (p.Asn342IlefsTer21) c.1739del (p.Asn580IlefsTer21) n.2535del n.2743del | ClinVar |
1 | g.197427905A= | CA1146911928 | CRB1 | c.2580A= (p.Gln860=) c.1461A= (p.Gln487=) c.723A= (p.Gln241=) c.2244A= (p.Gln748=) c.2373A= (p.Gln791=) c.2128+5949A= (n.2128+5949A=) n.2581A= n.2789A= c.1998A= (p.Gln666=) c.1023A= (p.Gln341=) c.1737A= (p.Gln579=) n.2533A= n.2741A= | |
1 | g.197427905A>C | CA344038375 | CRB1 | c.2580A>C (p.Gln860His) c.1461A>C (p.Gln487His) c.723A>C (p.Gln241His) c.2244A>C (p.Gln748His) c.2373A>C (p.Gln791His) c.2128+5949A>C (n.2128+5949A>C) n.2581A>C n.2789A>C c.1998A>C (p.Gln666His) c.1023A>C (p.Gln341His) c.1737A>C (p.Gln579His) n.2533A>C n.2741A>C | |
1 | g.197427905A>G | CA1312144 | CRB1 | c.2580A>G (p.Gln860=) c.1461A>G (p.Gln487=) c.723A>G (p.Gln241=) c.2244A>G (p.Gln748=) c.2373A>G (p.Gln791=) c.2128+5949A>G (n.2128+5949A>G) n.2581A>G n.2789A>G c.1998A>G (p.Gln666=) c.1023A>G (p.Gln341=) c.1737A>G (p.Gln579=) n.2533A>G n.2741A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427905A>T | CA344038379 | CRB1 | c.2580A>T (p.Gln860His) c.1461A>T (p.Gln487His) c.723A>T (p.Gln241His) c.2244A>T (p.Gln748His) c.2373A>T (p.Gln791His) c.2128+5949A>T (n.2128+5949A>T) n.2581A>T n.2789A>T c.1998A>T (p.Gln666His) c.1023A>T (p.Gln341His) c.1737A>T (p.Gln579His) n.2533A>T n.2741A>T | |
1 | g.197427906A= | CA1218066467 | CRB1 | c.2581A= (p.Asn861=) c.1462A= (p.Asn488=) c.724A= (p.Asn242=) c.2245A= (p.Asn749=) c.2374A= (p.Asn792=) c.2128+5950A= (n.2128+5950A=) n.2582A= n.2790A= c.1999A= (p.Asn667=) c.1024A= (p.Asn342=) c.1738A= (p.Asn580=) n.2534A= n.2742A= | |
1 | g.197427906A>C | CA344038380 | CRB1 | c.2581A>C (p.Asn861His) c.1462A>C (p.Asn488His) c.724A>C (p.Asn242His) c.2245A>C (p.Asn749His) c.2374A>C (p.Asn792His) c.2128+5950A>C (n.2128+5950A>C) n.2582A>C n.2790A>C c.1999A>C (p.Asn667His) c.1024A>C (p.Asn342His) c.1738A>C (p.Asn580His) n.2534A>C n.2742A>C | dbSNP gnomAD v2 |
1 | g.197427906A>G | CA344038381 | CRB1 | c.2581A>G (p.Asn861Asp) c.1462A>G (p.Asn488Asp) c.724A>G (p.Asn242Asp) c.2245A>G (p.Asn749Asp) c.2374A>G (p.Asn792Asp) c.2128+5950A>G (n.2128+5950A>G) n.2582A>G n.2790A>G c.1999A>G (p.Asn667Asp) c.1024A>G (p.Asn342Asp) c.1738A>G (p.Asn580Asp) n.2534A>G n.2742A>G | |
1 | g.197427906A>T | CA344038383 | CRB1 | c.2581A>T (p.Asn861Tyr) c.1462A>T (p.Asn488Tyr) c.724A>T (p.Asn242Tyr) c.2245A>T (p.Asn749Tyr) c.2374A>T (p.Asn792Tyr) c.2128+5950A>T (n.2128+5950A>T) n.2582A>T n.2790A>T c.1999A>T (p.Asn667Tyr) c.1024A>T (p.Asn342Tyr) c.1738A>T (p.Asn580Tyr) n.2534A>T n.2742A>T | |
1 | g.197427907A= | CA1218066471 | CRB1 | c.2582A= (p.Asn861=) c.1463A= (p.Asn488=) c.725A= (p.Asn242=) c.2246A= (p.Asn749=) c.2375A= (p.Asn792=) c.2128+5951A= (n.2128+5951A=) n.2583A= n.2791A= c.2000A= (p.Asn667=) c.1025A= (p.Asn342=) c.1739A= (p.Asn580=) n.2535A= n.2743A= | |
1 | g.197427907A>C | CA344038389 | CRB1 | c.2582A>C (p.Asn861Thr) c.1463A>C (p.Asn488Thr) c.725A>C (p.Asn242Thr) c.2246A>C (p.Asn749Thr) c.2375A>C (p.Asn792Thr) c.2128+5951A>C (n.2128+5951A>C) n.2583A>C n.2791A>C c.2000A>C (p.Asn667Thr) c.1025A>C (p.Asn342Thr) c.1739A>C (p.Asn580Thr) n.2535A>C n.2743A>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427907A>G | CA344038387 | CRB1 | c.2582A>G (p.Asn861Ser) c.1463A>G (p.Asn488Ser) c.725A>G (p.Asn242Ser) c.2246A>G (p.Asn749Ser) c.2375A>G (p.Asn792Ser) c.2128+5951A>G (n.2128+5951A>G) n.2583A>G n.2791A>G c.2000A>G (p.Asn667Ser) c.1025A>G (p.Asn342Ser) c.1739A>G (p.Asn580Ser) n.2535A>G n.2743A>G | |
1 | g.197427907A>T | CA344038385 | CRB1 | c.2582A>T (p.Asn861Ile) c.1463A>T (p.Asn488Ile) c.725A>T (p.Asn242Ile) c.2246A>T (p.Asn749Ile) c.2375A>T (p.Asn792Ile) c.2128+5951A>T (n.2128+5951A>T) n.2583A>T n.2791A>T c.2000A>T (p.Asn667Ile) c.1025A>T (p.Asn342Ile) c.1739A>T (p.Asn580Ile) n.2535A>T n.2743A>T | |
1 | g.197427907_197427921del | CA2747247683 | CRB1 | c.2582_2596del (p.Asn861_Pro866delinsThr) c.1463_1477del (p.Asn488_Pro493delinsThr) c.725_739del (p.Asn242_Pro247delinsThr) c.2246_2260del (p.Asn749_Pro754delinsThr) c.2375_2389del (p.Asn792_Pro797delinsThr) c.2128+5951_2128+5965del (n.2128+5951_2128+5965del) n.2583_2597del n.2791_2805del c.2000_2014del (p.Asn667_Pro672delinsThr) c.1025_1039del (p.Asn342_Pro347delinsThr) c.1739_1753del (p.Asn580_Pro585delinsThr) n.2535_2549del n.2743_2757del | |
1 | g.197427908T>A | CA344038391 | CRB1 | c.2583T>A (p.Asn861Lys) c.1464T>A (p.Asn488Lys) c.726T>A (p.Asn242Lys) c.2247T>A (p.Asn749Lys) c.2376T>A (p.Asn792Lys) c.2128+5952T>A (n.2128+5952T>A) n.2584T>A n.2792T>A c.2001T>A (p.Asn667Lys) c.1026T>A (p.Asn342Lys) c.1740T>A (p.Asn580Lys) n.2536T>A n.2744T>A | |
1 | g.197427908T>C | CA422808944 | CRB1 | c.2583T>C (p.Asn861=) c.1464T>C (p.Asn488=) c.726T>C (p.Asn242=) c.2247T>C (p.Asn749=) c.2376T>C (p.Asn792=) c.2128+5952T>C (n.2128+5952T>C) n.2584T>C n.2792T>C c.2001T>C (p.Asn667=) c.1026T>C (p.Asn342=) c.1740T>C (p.Asn580=) n.2536T>C n.2744T>C | ClinVar dbSNP |
1 | g.197427908T>G | CA344038393 | CRB1 | c.2583T>G (p.Asn861Lys) c.1464T>G (p.Asn488Lys) c.726T>G (p.Asn242Lys) c.2247T>G (p.Asn749Lys) c.2376T>G (p.Asn792Lys) c.2128+5952T>G (n.2128+5952T>G) n.2584T>G n.2792T>G c.2001T>G (p.Asn667Lys) c.1026T>G (p.Asn342Lys) c.1740T>G (p.Asn580Lys) n.2536T>G n.2744T>G | |
1 | g.197427909C>A | CA344038396 | CRB1 | c.2584C>A (p.Leu862Met) c.1465C>A (p.Leu489Met) c.727C>A (p.Leu243Met) c.2248C>A (p.Leu750Met) c.2377C>A (p.Leu793Met) c.2128+5953C>A (n.2128+5953C>A) n.2585C>A n.2793C>A c.2002C>A (p.Leu668Met) c.1027C>A (p.Leu343Met) c.1741C>A (p.Leu581Met) n.2537C>A n.2745C>A | |
1 | g.197427909C= | CA1218066474 | CRB1 | c.2584C= (p.Leu862=) c.1465C= (p.Leu489=) c.727C= (p.Leu243=) c.2248C= (p.Leu750=) c.2377C= (p.Leu793=) c.2128+5953C= (n.2128+5953C=) n.2585C= n.2793C= c.2002C= (p.Leu668=) c.1027C= (p.Leu343=) c.1741C= (p.Leu581=) n.2537C= n.2745C= | |
1 | g.197427909C>G | CA344038398 | CRB1 | c.2584C>G (p.Leu862Val) c.1465C>G (p.Leu489Val) c.727C>G (p.Leu243Val) c.2248C>G (p.Leu750Val) c.2377C>G (p.Leu793Val) c.2128+5953C>G (n.2128+5953C>G) n.2585C>G n.2793C>G c.2002C>G (p.Leu668Val) c.1027C>G (p.Leu343Val) c.1741C>G (p.Leu581Val) n.2537C>G n.2745C>G | dbSNP |
1 | g.197427909C>T | CA422808948 | CRB1 | c.2584C>T (p.Leu862=) c.1465C>T (p.Leu489=) c.727C>T (p.Leu243=) c.2248C>T (p.Leu750=) c.2377C>T (p.Leu793=) c.2128+5953C>T (n.2128+5953C>T) n.2585C>T n.2793C>T c.2002C>T (p.Leu668=) c.1027C>T (p.Leu343=) c.1741C>T (p.Leu581=) n.2537C>T n.2745C>T | gnomAD v4 COSMIC COSMIC |
1 | g.197427910T>A | CA344038401 | CRB1 | c.2585T>A (p.Leu862Gln) c.1466T>A (p.Leu489Gln) c.728T>A (p.Leu243Gln) c.2249T>A (p.Leu750Gln) c.2378T>A (p.Leu793Gln) c.2128+5954T>A (n.2128+5954T>A) n.2586T>A n.2794T>A c.2003T>A (p.Leu668Gln) c.1028T>A (p.Leu343Gln) c.1742T>A (p.Leu581Gln) n.2538T>A n.2746T>A | |
1 | g.197427910T>C | CA344038403 | CRB1 | c.2585T>C (p.Leu862Pro) c.1466T>C (p.Leu489Pro) c.728T>C (p.Leu243Pro) c.2249T>C (p.Leu750Pro) c.2378T>C (p.Leu793Pro) c.2128+5954T>C (n.2128+5954T>C) n.2586T>C n.2794T>C c.2003T>C (p.Leu668Pro) c.1028T>C (p.Leu343Pro) c.1742T>C (p.Leu581Pro) n.2538T>C n.2746T>C | |
1 | g.197427910T>G | CA344038404 | CRB1 | c.2585T>G (p.Leu862Arg) c.1466T>G (p.Leu489Arg) c.728T>G (p.Leu243Arg) c.2249T>G (p.Leu750Arg) c.2378T>G (p.Leu793Arg) c.2128+5954T>G (n.2128+5954T>G) n.2586T>G n.2794T>G c.2003T>G (p.Leu668Arg) c.1028T>G (p.Leu343Arg) c.1742T>G (p.Leu581Arg) n.2538T>G n.2746T>G | ClinVar dbSNP |
1 | g.197427910T= | CA1218066475 | CRB1 | c.2585T= (p.Leu862=) c.1466T= (p.Leu489=) c.728T= (p.Leu243=) c.2249T= (p.Leu750=) c.2378T= (p.Leu793=) c.2128+5954T= (n.2128+5954T=) n.2586T= n.2794T= c.2003T= (p.Leu668=) c.1028T= (p.Leu343=) c.1742T= (p.Leu581=) n.2538T= n.2746T= | |
1 | g.197427911G>A | CA422808949 | CRB1 | c.2586G>A (p.Leu862=) c.1467G>A (p.Leu489=) c.729G>A (p.Leu243=) c.2250G>A (p.Leu750=) c.2379G>A (p.Leu793=) c.2128+5955G>A (n.2128+5955G>A) n.2587G>A n.2795G>A c.2004G>A (p.Leu668=) c.1029G>A (p.Leu343=) c.1743G>A (p.Leu581=) n.2539G>A n.2747G>A | |
1 | g.197427911G>C | CA422808950 | CRB1 | c.2586G>C (p.Leu862=) c.1467G>C (p.Leu489=) c.729G>C (p.Leu243=) c.2250G>C (p.Leu750=) c.2379G>C (p.Leu793=) c.2128+5955G>C (n.2128+5955G>C) n.2587G>C n.2795G>C c.2004G>C (p.Leu668=) c.1029G>C (p.Leu343=) c.1743G>C (p.Leu581=) n.2539G>C n.2747G>C | |
1 | g.197427911G>T | CA422808951 | CRB1 | c.2586G>T (p.Leu862=) c.1467G>T (p.Leu489=) c.729G>T (p.Leu243=) c.2250G>T (p.Leu750=) c.2379G>T (p.Leu793=) c.2128+5955G>T (n.2128+5955G>T) n.2587G>T n.2795G>T c.2004G>T (p.Leu668=) c.1029G>T (p.Leu343=) c.1743G>T (p.Leu581=) n.2539G>T n.2747G>T | |
1 | g.197427912G>A | CA344038406 | CRB1 | c.2587G>A (p.Glu863Lys) c.1468G>A (p.Glu490Lys) c.730G>A (p.Glu244Lys) c.2251G>A (p.Glu751Lys) c.2380G>A (p.Glu794Lys) c.2128+5956G>A (n.2128+5956G>A) n.2588G>A n.2796G>A c.2005G>A (p.Glu669Lys) c.1030G>A (p.Glu344Lys) c.1744G>A (p.Glu582Lys) n.2540G>A n.2748G>A | COSMIC COSMIC |
1 | g.197427912G>C | CA344038407 | CRB1 | c.2587G>C (p.Glu863Gln) c.1468G>C (p.Glu490Gln) c.730G>C (p.Glu244Gln) c.2251G>C (p.Glu751Gln) c.2380G>C (p.Glu794Gln) c.2128+5956G>C (n.2128+5956G>C) n.2588G>C n.2796G>C c.2005G>C (p.Glu669Gln) c.1030G>C (p.Glu344Gln) c.1744G>C (p.Glu582Gln) n.2540G>C n.2748G>C | |
1 | g.197427912G>T | CA344038408 | CRB1 | c.2587G>T (p.Glu863Ter) c.1468G>T (p.Glu490Ter) c.730G>T (p.Glu244Ter) c.2251G>T (p.Glu751Ter) c.2380G>T (p.Glu794Ter) c.2128+5956G>T (n.2128+5956G>T) n.2588G>T n.2796G>T c.2005G>T (p.Glu669Ter) c.1030G>T (p.Glu344Ter) c.1744G>T (p.Glu582Ter) n.2540G>T n.2748G>T | ClinVar dbSNP |
1 | g.197427912_197427918del | CA2649670219 | CRB1 | c.2587_2593del (p.Glu863PhefsTer17) c.1468_1474del (p.Glu490PhefsTer17) c.730_736del (p.Glu244PhefsTer17) c.2251_2257del (p.Glu751PhefsTer17) c.2380_2386del (p.Glu794PhefsTer17) c.2128+5956_2128+5962del (n.2128+5956_2128+5962del) n.2588_2594del n.2796_2802del c.2005_2011del (p.Glu669PhefsTer17) c.1030_1036del (p.Glu344PhefsTer17) c.1744_1750del (p.Glu582PhefsTer17) n.2540_2546del n.2748_2754del | gnomAD v4 |
1 | g.197427913A>C | CA344038411 | CRB1 | c.2588A>C (p.Glu863Ala) c.1469A>C (p.Glu490Ala) c.731A>C (p.Glu244Ala) c.2252A>C (p.Glu751Ala) c.2381A>C (p.Glu794Ala) c.2128+5957A>C (n.2128+5957A>C) n.2589A>C n.2797A>C c.2006A>C (p.Glu669Ala) c.1031A>C (p.Glu344Ala) c.1745A>C (p.Glu582Ala) n.2541A>C n.2749A>C | |
1 | g.197427913A>G | CA344038413 | CRB1 | c.2588A>G (p.Glu863Gly) c.1469A>G (p.Glu490Gly) c.731A>G (p.Glu244Gly) c.2252A>G (p.Glu751Gly) c.2381A>G (p.Glu794Gly) c.2128+5957A>G (n.2128+5957A>G) n.2589A>G n.2797A>G c.2006A>G (p.Glu669Gly) c.1031A>G (p.Glu344Gly) c.1745A>G (p.Glu582Gly) n.2541A>G n.2749A>G | |
1 | g.197427913A>T | CA344038417 | CRB1 | c.2588A>T (p.Glu863Val) c.1469A>T (p.Glu490Val) c.731A>T (p.Glu244Val) c.2252A>T (p.Glu751Val) c.2381A>T (p.Glu794Val) c.2128+5957A>T (n.2128+5957A>T) n.2589A>T n.2797A>T c.2006A>T (p.Glu669Val) c.1031A>T (p.Glu344Val) c.1745A>T (p.Glu582Val) n.2541A>T n.2749A>T | |
1 | g.197427914A>C | CA344038419 | CRB1 | c.2589A>C (p.Glu863Asp) c.1470A>C (p.Glu490Asp) c.732A>C (p.Glu244Asp) c.2253A>C (p.Glu751Asp) c.2382A>C (p.Glu794Asp) c.2128+5958A>C (n.2128+5958A>C) n.2590A>C n.2798A>C c.2007A>C (p.Glu669Asp) c.1032A>C (p.Glu344Asp) c.1746A>C (p.Glu582Asp) n.2542A>C n.2750A>C | |
1 | g.197427914A>G | CA422808955 | CRB1 | c.2589A>G (p.Glu863=) c.1470A>G (p.Glu490=) c.732A>G (p.Glu244=) c.2253A>G (p.Glu751=) c.2382A>G (p.Glu794=) c.2128+5958A>G (n.2128+5958A>G) n.2590A>G n.2798A>G c.2007A>G (p.Glu669=) c.1032A>G (p.Glu344=) c.1746A>G (p.Glu582=) n.2542A>G n.2750A>G | |
1 | g.197427914A>T | CA344038420 | CRB1 | c.2589A>T (p.Glu863Asp) c.1470A>T (p.Glu490Asp) c.732A>T (p.Glu244Asp) c.2253A>T (p.Glu751Asp) c.2382A>T (p.Glu794Asp) c.2128+5958A>T (n.2128+5958A>T) n.2590A>T n.2798A>T c.2007A>T (p.Glu669Asp) c.1032A>T (p.Glu344Asp) c.1746A>T (p.Glu582Asp) n.2542A>T n.2750A>T | |
1 | g.197427915T>A | CA344038423 | CRB1 | c.2590T>A (p.Phe864Ile) c.1471T>A (p.Phe491Ile) c.733T>A (p.Phe245Ile) c.2254T>A (p.Phe752Ile) c.2383T>A (p.Phe795Ile) c.2128+5959T>A (n.2128+5959T>A) n.2591T>A n.2799T>A c.2008T>A (p.Phe670Ile) c.1033T>A (p.Phe345Ile) c.1747T>A (p.Phe583Ile) n.2543T>A n.2751T>A | |
1 | g.197427915T>C | CA344038426 | CRB1 | c.2590T>C (p.Phe864Leu) c.1471T>C (p.Phe491Leu) c.733T>C (p.Phe245Leu) c.2254T>C (p.Phe752Leu) c.2383T>C (p.Phe795Leu) c.2128+5959T>C (n.2128+5959T>C) n.2591T>C n.2799T>C c.2008T>C (p.Phe670Leu) c.1033T>C (p.Phe345Leu) c.1747T>C (p.Phe583Leu) n.2543T>C n.2751T>C | |
1 | g.197427915T>G | CA344038424 | CRB1 | c.2590T>G (p.Phe864Val) c.1471T>G (p.Phe491Val) c.733T>G (p.Phe245Val) c.2254T>G (p.Phe752Val) c.2383T>G (p.Phe795Val) c.2128+5959T>G (n.2128+5959T>G) n.2591T>G n.2799T>G c.2008T>G (p.Phe670Val) c.1033T>G (p.Phe345Val) c.1747T>G (p.Phe583Val) n.2543T>G n.2751T>G | |
1 | g.197427916T>A | CA344038428 | CRB1 | c.2591T>A (p.Phe864Tyr) c.1472T>A (p.Phe491Tyr) c.734T>A (p.Phe245Tyr) c.2255T>A (p.Phe752Tyr) c.2384T>A (p.Phe795Tyr) c.2128+5960T>A (n.2128+5960T>A) n.2592T>A n.2800T>A c.2009T>A (p.Phe670Tyr) c.1034T>A (p.Phe345Tyr) c.1748T>A (p.Phe583Tyr) n.2544T>A n.2752T>A | |
1 | g.197427916T>C | CA344038431 | CRB1 | c.2591T>C (p.Phe864Ser) c.1472T>C (p.Phe491Ser) c.734T>C (p.Phe245Ser) c.2255T>C (p.Phe752Ser) c.2384T>C (p.Phe795Ser) c.2128+5960T>C (n.2128+5960T>C) n.2592T>C n.2800T>C c.2009T>C (p.Phe670Ser) c.1034T>C (p.Phe345Ser) c.1748T>C (p.Phe583Ser) n.2544T>C n.2752T>C | |
1 | g.197427916T>G | CA344038430 | CRB1 | c.2591T>G (p.Phe864Cys) c.1472T>G (p.Phe491Cys) c.734T>G (p.Phe245Cys) c.2255T>G (p.Phe752Cys) c.2384T>G (p.Phe795Cys) c.2128+5960T>G (n.2128+5960T>G) n.2592T>G n.2800T>G c.2009T>G (p.Phe670Cys) c.1034T>G (p.Phe345Cys) c.1748T>G (p.Phe583Cys) n.2544T>G n.2752T>G |