Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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.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.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.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 | |
1 | g.197427917C>A | CA35901135 | CRB1 | c.2592C>A (p.Phe864Leu) c.1473C>A (p.Phe491Leu) c.735C>A (p.Phe245Leu) c.2256C>A (p.Phe752Leu) c.2385C>A (p.Phe795Leu) c.2128+5961C>A (n.2128+5961C>A) n.2593C>A n.2801C>A c.2010C>A (p.Phe670Leu) c.1035C>A (p.Phe345Leu) c.1749C>A (p.Phe583Leu) n.2545C>A n.2753C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197427917C= | CA1218066477 | CRB1 | c.2592C= (p.Phe864=) c.1473C= (p.Phe491=) c.735C= (p.Phe245=) c.2256C= (p.Phe752=) c.2385C= (p.Phe795=) c.2128+5961C= (n.2128+5961C=) n.2593C= n.2801C= c.2010C= (p.Phe670=) c.1035C= (p.Phe345=) c.1749C= (p.Phe583=) n.2545C= n.2753C= | |
1 | g.197427917C>G | CA344038434 | CRB1 | c.2592C>G (p.Phe864Leu) c.1473C>G (p.Phe491Leu) c.735C>G (p.Phe245Leu) c.2256C>G (p.Phe752Leu) c.2385C>G (p.Phe795Leu) c.2128+5961C>G (n.2128+5961C>G) n.2593C>G n.2801C>G c.2010C>G (p.Phe670Leu) c.1035C>G (p.Phe345Leu) c.1749C>G (p.Phe583Leu) n.2545C>G n.2753C>G | |
1 | g.197427917C>T | CA422808958 | CRB1 | c.2592C>T (p.Phe864=) c.1473C>T (p.Phe491=) c.735C>T (p.Phe245=) c.2256C>T (p.Phe752=) c.2385C>T (p.Phe795=) c.2128+5961C>T (n.2128+5961C>T) n.2593C>T n.2801C>T c.2010C>T (p.Phe670=) c.1035C>T (p.Phe345=) c.1749C>T (p.Phe583=) n.2545C>T n.2753C>T | gnomAD v4 COSMIC |
1 | g.197427918T>A | CA344038438 | CRB1 | c.2593T>A (p.Phe865Ile) c.1474T>A (p.Phe492Ile) c.736T>A (p.Phe246Ile) c.2257T>A (p.Phe753Ile) c.2386T>A (p.Phe796Ile) c.2128+5962T>A (n.2128+5962T>A) n.2594T>A n.2802T>A c.2011T>A (p.Phe671Ile) c.1036T>A (p.Phe346Ile) c.1750T>A (p.Phe584Ile) n.2546T>A n.2754T>A | |
1 | g.197427918T>C | CA344038439 | CRB1 | c.2593T>C (p.Phe865Leu) c.1474T>C (p.Phe492Leu) c.736T>C (p.Phe246Leu) c.2257T>C (p.Phe753Leu) c.2386T>C (p.Phe796Leu) c.2128+5962T>C (n.2128+5962T>C) n.2594T>C n.2802T>C c.2011T>C (p.Phe671Leu) c.1036T>C (p.Phe346Leu) c.1750T>C (p.Phe584Leu) n.2546T>C n.2754T>C | |
1 | g.197427918T>G | CA344038442 | CRB1 | c.2593T>G (p.Phe865Val) c.1474T>G (p.Phe492Val) c.736T>G (p.Phe246Val) c.2257T>G (p.Phe753Val) c.2386T>G (p.Phe796Val) c.2128+5962T>G (n.2128+5962T>G) n.2594T>G n.2802T>G c.2011T>G (p.Phe671Val) c.1036T>G (p.Phe346Val) c.1750T>G (p.Phe584Val) n.2546T>G n.2754T>G | |
1 | g.197427919T>A | CA344038444 | CRB1 | c.2594T>A (p.Phe865Tyr) c.1475T>A (p.Phe492Tyr) c.737T>A (p.Phe246Tyr) c.2258T>A (p.Phe753Tyr) c.2387T>A (p.Phe796Tyr) c.2128+5963T>A (n.2128+5963T>A) n.2595T>A n.2803T>A c.2012T>A (p.Phe671Tyr) c.1037T>A (p.Phe346Tyr) c.1751T>A (p.Phe584Tyr) n.2547T>A n.2755T>A | |
1 | g.197427919T>C | CA344038446 | CRB1 | c.2594T>C (p.Phe865Ser) c.1475T>C (p.Phe492Ser) c.737T>C (p.Phe246Ser) c.2258T>C (p.Phe753Ser) c.2387T>C (p.Phe796Ser) c.2128+5963T>C (n.2128+5963T>C) n.2595T>C n.2803T>C c.2012T>C (p.Phe671Ser) c.1037T>C (p.Phe346Ser) c.1751T>C (p.Phe584Ser) n.2547T>C n.2755T>C | |
1 | g.197427919T>G | CA344038447 | CRB1 | c.2594T>G (p.Phe865Cys) c.1475T>G (p.Phe492Cys) c.737T>G (p.Phe246Cys) c.2258T>G (p.Phe753Cys) c.2387T>G (p.Phe796Cys) c.2128+5963T>G (n.2128+5963T>G) n.2595T>G n.2803T>G c.2012T>G (p.Phe671Cys) c.1037T>G (p.Phe346Cys) c.1751T>G (p.Phe584Cys) n.2547T>G n.2755T>G | |
1 | g.197427920T>A | CA344038448 | CRB1 | c.2595T>A (p.Phe865Leu) c.1476T>A (p.Phe492Leu) c.738T>A (p.Phe246Leu) c.2259T>A (p.Phe753Leu) c.2388T>A (p.Phe796Leu) c.2128+5964T>A (n.2128+5964T>A) n.2596T>A n.2804T>A c.2013T>A (p.Phe671Leu) c.1038T>A (p.Phe346Leu) c.1752T>A (p.Phe584Leu) n.2548T>A n.2756T>A | |
1 | g.197427920T>C | CA422808959 | CRB1 | c.2595T>C (p.Phe865=) c.1476T>C (p.Phe492=) c.738T>C (p.Phe246=) c.2259T>C (p.Phe753=) c.2388T>C (p.Phe796=) c.2128+5964T>C (n.2128+5964T>C) n.2596T>C n.2804T>C c.2013T>C (p.Phe671=) c.1038T>C (p.Phe346=) c.1752T>C (p.Phe584=) n.2548T>C n.2756T>C | gnomAD v4 |
1 | g.197427920T>G | CA344038450 | CRB1 | c.2595T>G (p.Phe865Leu) c.1476T>G (p.Phe492Leu) c.738T>G (p.Phe246Leu) c.2259T>G (p.Phe753Leu) c.2388T>G (p.Phe796Leu) c.2128+5964T>G (n.2128+5964T>G) n.2596T>G n.2804T>G c.2013T>G (p.Phe671Leu) c.1038T>G (p.Phe346Leu) c.1752T>G (p.Phe584Leu) n.2548T>G n.2756T>G | |
1 | g.197427921C>A | CA344038457 | CRB1 | c.2596C>A (p.Pro866Thr) c.1477C>A (p.Pro493Thr) c.739C>A (p.Pro247Thr) c.2260C>A (p.Pro754Thr) c.2389C>A (p.Pro797Thr) c.2128+5965C>A (n.2128+5965C>A) n.2597C>A n.2805C>A c.2014C>A (p.Pro672Thr) c.1039C>A (p.Pro347Thr) c.1753C>A (p.Pro585Thr) n.2549C>A n.2757C>A | ClinVar dbSNP |
1 | g.197427921C= | CA1218066481 | CRB1 | c.2596C= (p.Pro866=) c.1477C= (p.Pro493=) c.739C= (p.Pro247=) c.2260C= (p.Pro754=) c.2389C= (p.Pro797=) c.2128+5965C= (n.2128+5965C=) n.2597C= n.2805C= c.2014C= (p.Pro672=) c.1039C= (p.Pro347=) c.1753C= (p.Pro585=) n.2549C= n.2757C= | |
1 | g.197427921C>G | CA344038456 | CRB1 | c.2596C>G (p.Pro866Ala) c.1477C>G (p.Pro493Ala) c.739C>G (p.Pro247Ala) c.2260C>G (p.Pro754Ala) c.2389C>G (p.Pro797Ala) c.2128+5965C>G (n.2128+5965C>G) n.2597C>G n.2805C>G c.2014C>G (p.Pro672Ala) c.1039C>G (p.Pro347Ala) c.1753C>G (p.Pro585Ala) n.2549C>G n.2757C>G | |
1 | g.197427921C>T | CA344038453 | CRB1 | c.2596C>T (p.Pro866Ser) c.1477C>T (p.Pro493Ser) c.739C>T (p.Pro247Ser) c.2260C>T (p.Pro754Ser) c.2389C>T (p.Pro797Ser) c.2128+5965C>T (n.2128+5965C>T) n.2597C>T n.2805C>T c.2014C>T (p.Pro672Ser) c.1039C>T (p.Pro347Ser) c.1753C>T (p.Pro585Ser) n.2549C>T n.2757C>T | |
1 | g.197427922C>A | CA344038460 | CRB1 | c.2597C>A (p.Pro866Gln) c.1478C>A (p.Pro493Gln) c.740C>A (p.Pro247Gln) c.2261C>A (p.Pro754Gln) c.2390C>A (p.Pro797Gln) c.2128+5966C>A (n.2128+5966C>A) n.2598C>A n.2806C>A c.2015C>A (p.Pro672Gln) c.1040C>A (p.Pro347Gln) c.1754C>A (p.Pro585Gln) n.2550C>A n.2758C>A | gnomAD v4 |
1 | g.197427922C>G | CA344038462 | CRB1 | c.2597C>G (p.Pro866Arg) c.1478C>G (p.Pro493Arg) c.740C>G (p.Pro247Arg) c.2261C>G (p.Pro754Arg) c.2390C>G (p.Pro797Arg) c.2128+5966C>G (n.2128+5966C>G) n.2598C>G n.2806C>G c.2015C>G (p.Pro672Arg) c.1040C>G (p.Pro347Arg) c.1754C>G (p.Pro585Arg) n.2550C>G n.2758C>G | |
1 | g.197427922C>T | CA344038463 | CRB1 | c.2597C>T (p.Pro866Leu) c.1478C>T (p.Pro493Leu) c.740C>T (p.Pro247Leu) c.2261C>T (p.Pro754Leu) c.2390C>T (p.Pro797Leu) c.2128+5966C>T (n.2128+5966C>T) n.2598C>T n.2806C>T c.2015C>T (p.Pro672Leu) c.1040C>T (p.Pro347Leu) c.1754C>T (p.Pro585Leu) n.2550C>T n.2758C>T | |
1 | g.197427923A= | CA1218066483 | CRB1 | c.2598A= (p.Pro866=) c.1479A= (p.Pro493=) c.741A= (p.Pro247=) c.2262A= (p.Pro754=) c.2391A= (p.Pro797=) c.2128+5967A= (n.2128+5967A=) n.2599A= n.2807A= c.2016A= (p.Pro672=) c.1041A= (p.Pro347=) c.1755A= (p.Pro585=) n.2551A= n.2759A= | |
1 | g.197427923A>C | CA422808963 | CRB1 | c.2598A>C (p.Pro866=) c.1479A>C (p.Pro493=) c.741A>C (p.Pro247=) c.2262A>C (p.Pro754=) c.2391A>C (p.Pro797=) c.2128+5967A>C (n.2128+5967A>C) n.2599A>C n.2807A>C c.2016A>C (p.Pro672=) c.1041A>C (p.Pro347=) c.1755A>C (p.Pro585=) n.2551A>C n.2759A>C | ClinVar dbSNP |
1 | g.197427923A>G | CA422808964 | CRB1 | c.2598A>G (p.Pro866=) c.1479A>G (p.Pro493=) c.741A>G (p.Pro247=) c.2262A>G (p.Pro754=) c.2391A>G (p.Pro797=) c.2128+5967A>G (n.2128+5967A>G) n.2599A>G n.2807A>G c.2016A>G (p.Pro672=) c.1041A>G (p.Pro347=) c.1755A>G (p.Pro585=) n.2551A>G n.2759A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427923A>T | CA422808965 | CRB1 | c.2598A>T (p.Pro866=) c.1479A>T (p.Pro493=) c.741A>T (p.Pro247=) c.2262A>T (p.Pro754=) c.2391A>T (p.Pro797=) c.2128+5967A>T (n.2128+5967A>T) n.2599A>T n.2807A>T c.2016A>T (p.Pro672=) c.1041A>T (p.Pro347=) c.1755A>T (p.Pro585=) n.2551A>T n.2759A>T | |
1 | g.197427924A>C | CA344038466 | CRB1 | c.2599A>C (p.Asn867His) c.1480A>C (p.Asn494His) c.742A>C (p.Asn248His) c.2263A>C (p.Asn755His) c.2392A>C (p.Asn798His) c.2128+5968A>C (n.2128+5968A>C) n.2600A>C n.2808A>C c.2017A>C (p.Asn673His) c.1042A>C (p.Asn348His) c.1756A>C (p.Asn586His) n.2552A>C n.2760A>C | |
1 | g.197427924A>G | CA344038468 | CRB1 | c.2599A>G (p.Asn867Asp) c.1480A>G (p.Asn494Asp) c.742A>G (p.Asn248Asp) c.2263A>G (p.Asn755Asp) c.2392A>G (p.Asn798Asp) c.2128+5968A>G (n.2128+5968A>G) n.2600A>G n.2808A>G c.2017A>G (p.Asn673Asp) c.1042A>G (p.Asn348Asp) c.1756A>G (p.Asn586Asp) n.2552A>G n.2760A>G | |
1 | g.197427924A>T | CA344038470 | CRB1 | c.2599A>T (p.Asn867Tyr) c.1480A>T (p.Asn494Tyr) c.742A>T (p.Asn248Tyr) c.2263A>T (p.Asn755Tyr) c.2392A>T (p.Asn798Tyr) c.2128+5968A>T (n.2128+5968A>T) n.2600A>T n.2808A>T c.2017A>T (p.Asn673Tyr) c.1042A>T (p.Asn348Tyr) c.1756A>T (p.Asn586Tyr) n.2552A>T n.2760A>T | gnomAD v4 |
1 | g.197427925A= | CA1218066486 | CRB1 | c.2600A= (p.Asn867=) c.1481A= (p.Asn494=) c.743A= (p.Asn248=) c.2264A= (p.Asn755=) c.2393A= (p.Asn798=) c.2128+5969A= (n.2128+5969A=) n.2601A= n.2809A= c.2018A= (p.Asn673=) c.1043A= (p.Asn348=) c.1757A= (p.Asn586=) n.2553A= n.2761A= | |
1 | g.197427925A>C | CA344038473 | CRB1 | c.2600A>C (p.Asn867Thr) c.1481A>C (p.Asn494Thr) c.743A>C (p.Asn248Thr) c.2264A>C (p.Asn755Thr) c.2393A>C (p.Asn798Thr) c.2128+5969A>C (n.2128+5969A>C) n.2601A>C n.2809A>C c.2018A>C (p.Asn673Thr) c.1043A>C (p.Asn348Thr) c.1757A>C (p.Asn586Thr) n.2553A>C n.2761A>C | |
1 | g.197427925A>G | CA344038475 | CRB1 | c.2600A>G (p.Asn867Ser) c.1481A>G (p.Asn494Ser) c.743A>G (p.Asn248Ser) c.2264A>G (p.Asn755Ser) c.2393A>G (p.Asn798Ser) c.2128+5969A>G (n.2128+5969A>G) n.2601A>G n.2809A>G c.2018A>G (p.Asn673Ser) c.1043A>G (p.Asn348Ser) c.1757A>G (p.Asn586Ser) n.2553A>G n.2761A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427925A>T | CA344038477 | CRB1 | c.2600A>T (p.Asn867Ile) c.1481A>T (p.Asn494Ile) c.743A>T (p.Asn248Ile) c.2264A>T (p.Asn755Ile) c.2393A>T (p.Asn798Ile) c.2128+5969A>T (n.2128+5969A>T) n.2601A>T n.2809A>T c.2018A>T (p.Asn673Ile) c.1043A>T (p.Asn348Ile) c.1757A>T (p.Asn586Ile) n.2553A>T n.2761A>T | |
1 | g.197427925_197427926insACAACAACCAAACACA | CA2747247687 | CRB1 | c.2600_2601insACAACAACCAAACACA (p.Asn867LysfsTer?) c.1481_1482insACAACAACCAAACACA (p.Asn494LysfsTer?) c.743_744insACAACAACCAAACACA (p.Asn248LysfsTer?) c.2264_2265insACAACAACCAAACACA (p.Asn755LysfsTer?) c.2393_2394insACAACAACCAAACACA (p.Asn798LysfsTer?) c.2128+5969_2128+5970insACAACAACCAAACACA (n.2128+5969_2128+5970insACAACAACCAAACACA) n.2601_2602insACAACAACCAAACACA n.2809_2810insACAACAACCAAACACA c.2018_2019insACAACAACCAAACACA (p.Asn673LysfsTer?) c.1043_1044insACAACAACCAAACACA (p.Asn348LysfsTer?) c.1757_1758insACAACAACCAAACACA (p.Asn586LysfsTer?) n.2553_2554insACAACAACCAAACACA n.2761_2762insACAACAACCAAACACA | |
1 | g.197427926T>A | CA344038479 | CRB1 | c.2601T>A (p.Asn867Lys) c.1482T>A (p.Asn494Lys) c.744T>A (p.Asn248Lys) c.2265T>A (p.Asn755Lys) c.2394T>A (p.Asn798Lys) c.2128+5970T>A (n.2128+5970T>A) n.2602T>A n.2810T>A c.2019T>A (p.Asn673Lys) c.1044T>A (p.Asn348Lys) c.1758T>A (p.Asn586Lys) n.2554T>A n.2762T>A | |
1 | g.197427926T>C | CA422808967 | CRB1 | c.2601T>C (p.Asn867=) c.1482T>C (p.Asn494=) c.744T>C (p.Asn248=) c.2265T>C (p.Asn755=) c.2394T>C (p.Asn798=) c.2128+5970T>C (n.2128+5970T>C) n.2602T>C n.2810T>C c.2019T>C (p.Asn673=) c.1044T>C (p.Asn348=) c.1758T>C (p.Asn586=) n.2554T>C n.2762T>C | |
1 | g.197427926T>G | CA344038481 | CRB1 | c.2601T>G (p.Asn867Lys) c.1482T>G (p.Asn494Lys) c.744T>G (p.Asn248Lys) c.2265T>G (p.Asn755Lys) c.2394T>G (p.Asn798Lys) c.2128+5970T>G (n.2128+5970T>G) n.2602T>G n.2810T>G c.2019T>G (p.Asn673Lys) c.1044T>G (p.Asn348Lys) c.1758T>G (p.Asn586Lys) n.2554T>G n.2762T>G | |
1 | g.197427927C>A | CA344038486 | CRB1 | c.2602C>A (p.Pro868Thr) c.1483C>A (p.Pro495Thr) c.745C>A (p.Pro249Thr) c.2266C>A (p.Pro756Thr) c.2395C>A (p.Pro799Thr) c.2128+5971C>A (n.2128+5971C>A) n.2603C>A n.2811C>A c.2020C>A (p.Pro674Thr) c.1045C>A (p.Pro349Thr) c.1759C>A (p.Pro587Thr) n.2555C>A n.2763C>A | |
1 | g.197427927C>G | CA344038487 | CRB1 | c.2602C>G (p.Pro868Ala) c.1483C>G (p.Pro495Ala) c.745C>G (p.Pro249Ala) c.2266C>G (p.Pro756Ala) c.2395C>G (p.Pro799Ala) c.2128+5971C>G (n.2128+5971C>G) n.2603C>G n.2811C>G c.2020C>G (p.Pro674Ala) c.1045C>G (p.Pro349Ala) c.1759C>G (p.Pro587Ala) n.2555C>G n.2763C>G | |
1 | g.197427927C>T | CA344038484 | CRB1 | c.2602C>T (p.Pro868Ser) c.1483C>T (p.Pro495Ser) c.745C>T (p.Pro249Ser) c.2266C>T (p.Pro756Ser) c.2395C>T (p.Pro799Ser) c.2128+5971C>T (n.2128+5971C>T) n.2603C>T n.2811C>T c.2020C>T (p.Pro674Ser) c.1045C>T (p.Pro349Ser) c.1759C>T (p.Pro587Ser) n.2555C>T n.2763C>T | COSMIC COSMIC |
1 | g.197427928C>A | CA344038490 | CRB1 | c.2603C>A (p.Pro868Gln) c.1484C>A (p.Pro495Gln) c.746C>A (p.Pro249Gln) c.2267C>A (p.Pro756Gln) c.2396C>A (p.Pro799Gln) c.2128+5972C>A (n.2128+5972C>A) n.2604C>A n.2812C>A c.2021C>A (p.Pro674Gln) c.1046C>A (p.Pro349Gln) c.1760C>A (p.Pro587Gln) n.2556C>A n.2764C>A | |
1 | g.197427928C= | CA1218066489 | CRB1 | c.2603C= (p.Pro868=) c.1484C= (p.Pro495=) c.746C= (p.Pro249=) c.2267C= (p.Pro756=) c.2396C= (p.Pro799=) c.2128+5972C= (n.2128+5972C=) n.2604C= n.2812C= c.2021C= (p.Pro674=) c.1046C= (p.Pro349=) c.1760C= (p.Pro587=) n.2556C= n.2764C= | |
1 | g.197427928C>G | CA344038492 | CRB1 | c.2603C>G (p.Pro868Arg) c.1484C>G (p.Pro495Arg) c.746C>G (p.Pro249Arg) c.2267C>G (p.Pro756Arg) c.2396C>G (p.Pro799Arg) c.2128+5972C>G (n.2128+5972C>G) n.2604C>G n.2812C>G c.2021C>G (p.Pro674Arg) c.1046C>G (p.Pro349Arg) c.1760C>G (p.Pro587Arg) n.2556C>G n.2764C>G | |
1 | g.197427928C>T | CA344038493 | CRB1 | c.2603C>T (p.Pro868Leu) c.1484C>T (p.Pro495Leu) c.746C>T (p.Pro249Leu) c.2267C>T (p.Pro756Leu) c.2396C>T (p.Pro799Leu) c.2128+5972C>T (n.2128+5972C>T) n.2604C>T n.2812C>T c.2021C>T (p.Pro674Leu) c.1046C>T (p.Pro349Leu) c.1760C>T (p.Pro587Leu) n.2556C>T n.2764C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427929A>C | CA422808968 | CRB1 | c.2604A>C (p.Pro868=) c.1485A>C (p.Pro495=) c.747A>C (p.Pro249=) c.2268A>C (p.Pro756=) c.2397A>C (p.Pro799=) c.2128+5973A>C (n.2128+5973A>C) n.2605A>C n.2813A>C c.2022A>C (p.Pro674=) c.1047A>C (p.Pro349=) c.1761A>C (p.Pro587=) n.2557A>C n.2765A>C | |
1 | g.197427929A>G | CA422808970 | CRB1 | c.2604A>G (p.Pro868=) c.1485A>G (p.Pro495=) c.747A>G (p.Pro249=) c.2268A>G (p.Pro756=) c.2397A>G (p.Pro799=) c.2128+5973A>G (n.2128+5973A>G) n.2605A>G n.2813A>G c.2022A>G (p.Pro674=) c.1047A>G (p.Pro349=) c.1761A>G (p.Pro587=) n.2557A>G n.2765A>G | |
1 | g.197427929A>T | CA422808969 | CRB1 | c.2604A>T (p.Pro868=) c.1485A>T (p.Pro495=) c.747A>T (p.Pro249=) c.2268A>T (p.Pro756=) c.2397A>T (p.Pro799=) c.2128+5973A>T (n.2128+5973A>T) n.2605A>T n.2813A>T c.2022A>T (p.Pro674=) c.1047A>T (p.Pro349=) c.1761A>T (p.Pro587=) n.2557A>T n.2765A>T | |
1 | g.197427930A>C | CA344038494 | CRB1 | c.2605A>C (p.Thr869Pro) c.1486A>C (p.Thr496Pro) c.748A>C (p.Thr250Pro) c.2269A>C (p.Thr757Pro) c.2398A>C (p.Thr800Pro) c.2128+5974A>C (n.2128+5974A>C) n.2606A>C n.2814A>C c.2023A>C (p.Thr675Pro) c.1048A>C (p.Thr350Pro) c.1762A>C (p.Thr588Pro) n.2558A>C n.2766A>C | |
1 | g.197427930A>G | CA344038496 | CRB1 | c.2605A>G (p.Thr869Ala) c.1486A>G (p.Thr496Ala) c.748A>G (p.Thr250Ala) c.2269A>G (p.Thr757Ala) c.2398A>G (p.Thr800Ala) c.2128+5974A>G (n.2128+5974A>G) n.2606A>G n.2814A>G c.2023A>G (p.Thr675Ala) c.1048A>G (p.Thr350Ala) c.1762A>G (p.Thr588Ala) n.2558A>G n.2766A>G | gnomAD v4 |
1 | g.197427930A>T | CA344038497 | CRB1 | c.2605A>T (p.Thr869Ser) c.1486A>T (p.Thr496Ser) c.748A>T (p.Thr250Ser) c.2269A>T (p.Thr757Ser) c.2398A>T (p.Thr800Ser) c.2128+5974A>T (n.2128+5974A>T) n.2606A>T n.2814A>T c.2023A>T (p.Thr675Ser) c.1048A>T (p.Thr350Ser) c.1762A>T (p.Thr588Ser) n.2558A>T n.2766A>T | |
1 | g.197427931C>A | CA344038500 | CRB1 | c.2606C>A (p.Thr869Lys) c.1487C>A (p.Thr496Lys) c.749C>A (p.Thr250Lys) c.2270C>A (p.Thr757Lys) c.2399C>A (p.Thr800Lys) c.2128+5975C>A (n.2128+5975C>A) n.2607C>A n.2815C>A c.2024C>A (p.Thr675Lys) c.1049C>A (p.Thr350Lys) c.1763C>A (p.Thr588Lys) n.2559C>A n.2767C>A | gnomAD v4 |
1 | g.197427931C= | CA1218066491 | CRB1 | c.2606C= (p.Thr869=) c.1487C= (p.Thr496=) c.749C= (p.Thr250=) c.2270C= (p.Thr757=) c.2399C= (p.Thr800=) c.2128+5975C= (n.2128+5975C=) n.2607C= n.2815C= c.2024C= (p.Thr675=) c.1049C= (p.Thr350=) c.1763C= (p.Thr588=) n.2559C= n.2767C= | |
1 | g.197427931C>G | CA344038502 | CRB1 | c.2606C>G (p.Thr869Arg) c.1487C>G (p.Thr496Arg) c.749C>G (p.Thr250Arg) c.2270C>G (p.Thr757Arg) c.2399C>G (p.Thr800Arg) c.2128+5975C>G (n.2128+5975C>G) n.2607C>G n.2815C>G c.2024C>G (p.Thr675Arg) c.1049C>G (p.Thr350Arg) c.1763C>G (p.Thr588Arg) n.2559C>G n.2767C>G | dbSNP |
1 | g.197427931C>T | CA344038504 | CRB1 | c.2606C>T (p.Thr869Ile) c.1487C>T (p.Thr496Ile) c.749C>T (p.Thr250Ile) c.2270C>T (p.Thr757Ile) c.2399C>T (p.Thr800Ile) c.2128+5975C>T (n.2128+5975C>T) n.2607C>T n.2815C>T c.2024C>T (p.Thr675Ile) c.1049C>T (p.Thr350Ile) c.1763C>T (p.Thr588Ile) n.2559C>T n.2767C>T | |
1 | g.197427932A= | CA1218066492 | CRB1 | c.2607A= (p.Thr869=) c.1488A= (p.Thr496=) c.750A= (p.Thr250=) c.2271A= (p.Thr757=) c.2400A= (p.Thr800=) c.2128+5976A= (n.2128+5976A=) n.2608A= n.2816A= c.2025A= (p.Thr675=) c.1050A= (p.Thr350=) c.1764A= (p.Thr588=) n.2560A= n.2768A= | |
1 | g.197427932A>C | CA422808974 | CRB1 | c.2607A>C (p.Thr869=) c.1488A>C (p.Thr496=) c.750A>C (p.Thr250=) c.2271A>C (p.Thr757=) c.2400A>C (p.Thr800=) c.2128+5976A>C (n.2128+5976A>C) n.2608A>C n.2816A>C c.2025A>C (p.Thr675=) c.1050A>C (p.Thr350=) c.1764A>C (p.Thr588=) n.2560A>C n.2768A>C | |
1 | g.197427932A>G | CA422808975 | CRB1 | c.2607A>G (p.Thr869=) c.1488A>G (p.Thr496=) c.750A>G (p.Thr250=) c.2271A>G (p.Thr757=) c.2400A>G (p.Thr800=) c.2128+5976A>G (n.2128+5976A>G) n.2608A>G n.2816A>G c.2025A>G (p.Thr675=) c.1050A>G (p.Thr350=) c.1764A>G (p.Thr588=) n.2560A>G n.2768A>G | dbSNP gnomAD v2 |
1 | g.197427932A>T | CA422808976 | CRB1 | c.2607A>T (p.Thr869=) c.1488A>T (p.Thr496=) c.750A>T (p.Thr250=) c.2271A>T (p.Thr757=) c.2400A>T (p.Thr800=) c.2128+5976A>T (n.2128+5976A>T) n.2608A>T n.2816A>T c.2025A>T (p.Thr675=) c.1050A>T (p.Thr350=) c.1764A>T (p.Thr588=) n.2560A>T n.2768A>T | |
1 | g.197427933A>C | CA344038507 | CRB1 | c.2608A>C (p.Asn870His) c.1489A>C (p.Asn497His) c.751A>C (p.Asn251His) c.2272A>C (p.Asn758His) c.2401A>C (p.Asn801His) c.2128+5977A>C (n.2128+5977A>C) n.2609A>C n.2817A>C c.2026A>C (p.Asn676His) c.1051A>C (p.Asn351His) c.1765A>C (p.Asn589His) n.2561A>C n.2769A>C | |
1 | g.197427933A>G | CA344038510 | CRB1 | c.2608A>G (p.Asn870Asp) c.1489A>G (p.Asn497Asp) c.751A>G (p.Asn251Asp) c.2272A>G (p.Asn758Asp) c.2401A>G (p.Asn801Asp) c.2128+5977A>G (n.2128+5977A>G) n.2609A>G n.2817A>G c.2026A>G (p.Asn676Asp) c.1051A>G (p.Asn351Asp) c.1765A>G (p.Asn589Asp) n.2561A>G n.2769A>G | |
1 | g.197427933A>T | CA344038512 | CRB1 | c.2608A>T (p.Asn870Tyr) c.1489A>T (p.Asn497Tyr) c.751A>T (p.Asn251Tyr) c.2272A>T (p.Asn758Tyr) c.2401A>T (p.Asn801Tyr) c.2128+5977A>T (n.2128+5977A>T) n.2609A>T n.2817A>T c.2026A>T (p.Asn676Tyr) c.1051A>T (p.Asn351Tyr) c.1765A>T (p.Asn589Tyr) n.2561A>T n.2769A>T | |
1 | g.197427934A>C | CA344038517 | CRB1 | c.2609A>C (p.Asn870Thr) c.1490A>C (p.Asn497Thr) c.752A>C (p.Asn251Thr) c.2273A>C (p.Asn758Thr) c.2402A>C (p.Asn801Thr) c.2128+5978A>C (n.2128+5978A>C) n.2610A>C n.2818A>C c.2027A>C (p.Asn676Thr) c.1052A>C (p.Asn351Thr) c.1766A>C (p.Asn589Thr) n.2562A>C n.2770A>C | |
1 | g.197427934A>G | CA344038519 | CRB1 | c.2609A>G (p.Asn870Ser) c.1490A>G (p.Asn497Ser) c.752A>G (p.Asn251Ser) c.2273A>G (p.Asn758Ser) c.2402A>G (p.Asn801Ser) c.2128+5978A>G (n.2128+5978A>G) n.2610A>G n.2818A>G c.2027A>G (p.Asn676Ser) c.1052A>G (p.Asn351Ser) c.1766A>G (p.Asn589Ser) n.2562A>G n.2770A>G | |
1 | g.197427934A>T | CA344038515 | CRB1 | c.2609A>T (p.Asn870Ile) c.1490A>T (p.Asn497Ile) c.752A>T (p.Asn251Ile) c.2273A>T (p.Asn758Ile) c.2402A>T (p.Asn801Ile) c.2128+5978A>T (n.2128+5978A>T) n.2610A>T n.2818A>T c.2027A>T (p.Asn676Ile) c.1052A>T (p.Asn351Ile) c.1766A>T (p.Asn589Ile) n.2562A>T n.2770A>T | |
1 | g.197427935C>A | CA344038521 | CRB1 | c.2610C>A (p.Asn870Lys) c.1491C>A (p.Asn497Lys) c.753C>A (p.Asn251Lys) c.2274C>A (p.Asn758Lys) c.2403C>A (p.Asn801Lys) c.2128+5979C>A (n.2128+5979C>A) n.2611C>A n.2819C>A c.2028C>A (p.Asn676Lys) c.1053C>A (p.Asn351Lys) c.1767C>A (p.Asn589Lys) n.2563C>A n.2771C>A | |
1 | g.197427935C= | CA1218066495 | CRB1 | c.2610C= (p.Asn870=) c.1491C= (p.Asn497=) c.753C= (p.Asn251=) c.2274C= (p.Asn758=) c.2403C= (p.Asn801=) c.2128+5979C= (n.2128+5979C=) n.2611C= n.2819C= c.2028C= (p.Asn676=) c.1053C= (p.Asn351=) c.1767C= (p.Asn589=) n.2563C= n.2771C= | |
1 | g.197427935C>G | CA344038523 | CRB1 | c.2610C>G (p.Asn870Lys) c.1491C>G (p.Asn497Lys) c.753C>G (p.Asn251Lys) c.2274C>G (p.Asn758Lys) c.2403C>G (p.Asn801Lys) c.2128+5979C>G (n.2128+5979C>G) n.2611C>G n.2819C>G c.2028C>G (p.Asn676Lys) c.1053C>G (p.Asn351Lys) c.1767C>G (p.Asn589Lys) n.2563C>G n.2771C>G | gnomAD v4 |
1 | g.197427935C>T | CA35901137 | CRB1 | c.2610C>T (p.Asn870=) c.1491C>T (p.Asn497=) c.753C>T (p.Asn251=) c.2274C>T (p.Asn758=) c.2403C>T (p.Asn801=) c.2128+5979C>T (n.2128+5979C>T) n.2611C>T n.2819C>T c.2028C>T (p.Asn676=) c.1053C>T (p.Asn351=) c.1767C>T (p.Asn589=) n.2563C>T n.2771C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427939_197427950del | CA2649670229 | CRB1 | c.2614_2625del (p.Ala872_Asn875del) c.1495_1506del (p.Ala499_Asn502del) c.757_768del (p.Ala253_Asn256del) c.2278_2289del (p.Ala760_Asn763del) c.2407_2418del (p.Ala803_Asn806del) c.2128+5983_2128+5994del (n.2128+5983_2128+5994del) n.2615_2626del n.2823_2834del c.2032_2043del (p.Ala678_Asn681del) c.1057_1068del (p.Ala353_Asn356del) c.1771_1782del (p.Ala591_Asn594del) n.2567_2578del n.2775_2786del | gnomAD v4 |
1 | g.197427936A>C | CA344038525 | CRB1 | c.2611A>C (p.Asn871His) c.1492A>C (p.Asn498His) c.754A>C (p.Asn252His) c.2275A>C (p.Asn759His) c.2404A>C (p.Asn802His) c.2128+5980A>C (n.2128+5980A>C) n.2612A>C n.2820A>C c.2029A>C (p.Asn677His) c.1054A>C (p.Asn352His) c.1768A>C (p.Asn590His) n.2564A>C n.2772A>C | |
1 | g.197427936A>G | CA344038527 | CRB1 | c.2611A>G (p.Asn871Asp) c.1492A>G (p.Asn498Asp) c.754A>G (p.Asn252Asp) c.2275A>G (p.Asn759Asp) c.2404A>G (p.Asn802Asp) c.2128+5980A>G (n.2128+5980A>G) n.2612A>G n.2820A>G c.2029A>G (p.Asn677Asp) c.1054A>G (p.Asn352Asp) c.1768A>G (p.Asn590Asp) n.2564A>G n.2772A>G | |
1 | g.197427936A>T | CA344038529 | CRB1 | c.2611A>T (p.Asn871Tyr) c.1492A>T (p.Asn498Tyr) c.754A>T (p.Asn252Tyr) c.2275A>T (p.Asn759Tyr) c.2404A>T (p.Asn802Tyr) c.2128+5980A>T (n.2128+5980A>T) n.2612A>T n.2820A>T c.2029A>T (p.Asn677Tyr) c.1054A>T (p.Asn352Tyr) c.1768A>T (p.Asn590Tyr) n.2564A>T n.2772A>T | dbSNP |
1 | g.197427937A= | CA1218066496 | CRB1 | c.2612A= (p.Asn871=) c.1493A= (p.Asn498=) c.755A= (p.Asn252=) c.2276A= (p.Asn759=) c.2405A= (p.Asn802=) c.2128+5981A= (n.2128+5981A=) n.2613A= n.2821A= c.2030A= (p.Asn677=) c.1055A= (p.Asn352=) c.1769A= (p.Asn590=) n.2565A= n.2773A= | |
1 | g.197427937A>C | CA344038535 | CRB1 | c.2612A>C (p.Asn871Thr) c.1493A>C (p.Asn498Thr) c.755A>C (p.Asn252Thr) c.2276A>C (p.Asn759Thr) c.2405A>C (p.Asn802Thr) c.2128+5981A>C (n.2128+5981A>C) n.2613A>C n.2821A>C c.2030A>C (p.Asn677Thr) c.1055A>C (p.Asn352Thr) c.1769A>C (p.Asn590Thr) n.2565A>C n.2773A>C | |
1 | g.197427937A>G | CA1312145 | CRB1 | c.2612A>G (p.Asn871Ser) c.1493A>G (p.Asn498Ser) c.755A>G (p.Asn252Ser) c.2276A>G (p.Asn759Ser) c.2405A>G (p.Asn802Ser) c.2128+5981A>G (n.2128+5981A>G) n.2613A>G n.2821A>G c.2030A>G (p.Asn677Ser) c.1055A>G (p.Asn352Ser) c.1769A>G (p.Asn590Ser) n.2565A>G n.2773A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427937A>T | CA344038533 | CRB1 | c.2612A>T (p.Asn871Ile) c.1493A>T (p.Asn498Ile) c.755A>T (p.Asn252Ile) c.2276A>T (p.Asn759Ile) c.2405A>T (p.Asn802Ile) c.2128+5981A>T (n.2128+5981A>T) n.2613A>T n.2821A>T c.2030A>T (p.Asn677Ile) c.1055A>T (p.Asn352Ile) c.1769A>T (p.Asn590Ile) n.2565A>T n.2773A>T | |
1 | g.197427938T>A | CA344038538 | CRB1 | c.2613T>A (p.Asn871Lys) c.1494T>A (p.Asn498Lys) c.756T>A (p.Asn252Lys) c.2277T>A (p.Asn759Lys) c.2406T>A (p.Asn802Lys) c.2128+5982T>A (n.2128+5982T>A) n.2614T>A n.2822T>A c.2031T>A (p.Asn677Lys) c.1056T>A (p.Asn352Lys) c.1770T>A (p.Asn590Lys) n.2566T>A n.2774T>A | |
1 | g.197427938T>C | CA422808980 | CRB1 | c.2613T>C (p.Asn871=) c.1494T>C (p.Asn498=) c.756T>C (p.Asn252=) c.2277T>C (p.Asn759=) c.2406T>C (p.Asn802=) c.2128+5982T>C (n.2128+5982T>C) n.2614T>C n.2822T>C c.2031T>C (p.Asn677=) c.1056T>C (p.Asn352=) c.1770T>C (p.Asn590=) n.2566T>C n.2774T>C | |
1 | g.197427938T>G | CA344038540 | CRB1 | c.2613T>G (p.Asn871Lys) c.1494T>G (p.Asn498Lys) c.756T>G (p.Asn252Lys) c.2277T>G (p.Asn759Lys) c.2406T>G (p.Asn802Lys) c.2128+5982T>G (n.2128+5982T>G) n.2614T>G n.2822T>G c.2031T>G (p.Asn677Lys) c.1056T>G (p.Asn352Lys) c.1770T>G (p.Asn590Lys) n.2566T>G n.2774T>G | |
1 | g.197427938T= | CA1140762949 | CRB1 | c.2613T= (p.Asn871=) c.1494T= (p.Asn498=) c.756T= (p.Asn252=) c.2277T= (p.Asn759=) c.2406T= (p.Asn802=) c.2128+5982T= (n.2128+5982T=) n.2614T= n.2822T= c.2031T= (p.Asn677=) c.1056T= (p.Asn352=) c.1770T= (p.Asn590=) n.2566T= n.2774T= | |
1 | g.197427938dup | CA228015 | CRB1 | c.2613dup (p.Ala872CysfsTer?) c.1494dup (p.Ala499CysfsTer?) c.756dup (p.Ala253CysfsTer?) c.2277dup (p.Ala760CysfsTer?) c.2406dup (p.Ala803CysfsTer?) c.2128+5982dup (n.2128+5982dup) n.2614dup n.2822dup c.2031dup (p.Ala678CysfsTer?) c.1056dup (p.Ala353CysfsTer?) c.1770dup (p.Ala591CysfsTer?) n.2566dup n.2774dup | ClinVar dbSNP |
1 | g.197427939G>A | CA1312146 | CRB1 | c.2614G>A (p.Ala872Thr) c.1495G>A (p.Ala499Thr) c.757G>A (p.Ala253Thr) c.2278G>A (p.Ala760Thr) c.2407G>A (p.Ala803Thr) c.2128+5983G>A (n.2128+5983G>A) n.2615G>A n.2823G>A c.2032G>A (p.Ala678Thr) c.1057G>A (p.Ala353Thr) c.1771G>A (p.Ala591Thr) n.2567G>A n.2775G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427939G>C | CA344038544 | CRB1 | c.2614G>C (p.Ala872Pro) c.1495G>C (p.Ala499Pro) c.757G>C (p.Ala253Pro) c.2278G>C (p.Ala760Pro) c.2407G>C (p.Ala803Pro) c.2128+5983G>C (n.2128+5983G>C) n.2615G>C n.2823G>C c.2032G>C (p.Ala678Pro) c.1057G>C (p.Ala353Pro) c.1771G>C (p.Ala591Pro) n.2567G>C n.2775G>C | |
1 | g.197427939G= | CA1218066501 | CRB1 | c.2614G= (p.Ala872=) c.1495G= (p.Ala499=) c.757G= (p.Ala253=) c.2278G= (p.Ala760=) c.2407G= (p.Ala803=) c.2128+5983G= (n.2128+5983G=) n.2615G= n.2823G= c.2032G= (p.Ala678=) c.1057G= (p.Ala353=) c.1771G= (p.Ala591=) n.2567G= n.2775G= | |
1 | g.197427939G>T | CA344038545 | CRB1 | c.2614G>T (p.Ala872Ser) c.1495G>T (p.Ala499Ser) c.757G>T (p.Ala253Ser) c.2278G>T (p.Ala760Ser) c.2407G>T (p.Ala803Ser) c.2128+5983G>T (n.2128+5983G>T) n.2615G>T n.2823G>T c.2032G>T (p.Ala678Ser) c.1057G>T (p.Ala353Ser) c.1771G>T (p.Ala591Ser) n.2567G>T n.2775G>T | |
1 | g.197427940C>A | CA344038552 | CRB1 | c.2615C>A (p.Ala872Glu) c.1496C>A (p.Ala499Glu) c.758C>A (p.Ala253Glu) c.2279C>A (p.Ala760Glu) c.2408C>A (p.Ala803Glu) c.2128+5984C>A (n.2128+5984C>A) n.2616C>A n.2824C>A c.2033C>A (p.Ala678Glu) c.1058C>A (p.Ala353Glu) c.1772C>A (p.Ala591Glu) n.2568C>A n.2776C>A | |
1 | g.197427940C= | CA1218066504 | CRB1 | c.2615C= (p.Ala872=) c.1496C= (p.Ala499=) c.758C= (p.Ala253=) c.2279C= (p.Ala760=) c.2408C= (p.Ala803=) c.2128+5984C= (n.2128+5984C=) n.2616C= n.2824C= c.2033C= (p.Ala678=) c.1058C= (p.Ala353=) c.1772C= (p.Ala591=) n.2568C= n.2776C= | |
1 | g.197427940C>G | CA344038549 | CRB1 | c.2615C>G (p.Ala872Gly) c.1496C>G (p.Ala499Gly) c.758C>G (p.Ala253Gly) c.2279C>G (p.Ala760Gly) c.2408C>G (p.Ala803Gly) c.2128+5984C>G (n.2128+5984C>G) n.2616C>G n.2824C>G c.2033C>G (p.Ala678Gly) c.1058C>G (p.Ala353Gly) c.1772C>G (p.Ala591Gly) n.2568C>G n.2776C>G | |
1 | g.197427940C>T | CA1312147 | CRB1 | c.2615C>T (p.Ala872Val) c.1496C>T (p.Ala499Val) c.758C>T (p.Ala253Val) c.2279C>T (p.Ala760Val) c.2408C>T (p.Ala803Val) c.2128+5984C>T (n.2128+5984C>T) n.2616C>T n.2824C>T c.2033C>T (p.Ala678Val) c.1058C>T (p.Ala353Val) c.1772C>T (p.Ala591Val) n.2568C>T n.2776C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427941A>C | CA422808985 | CRB1 | c.2616A>C (p.Ala872=) c.1497A>C (p.Ala499=) c.759A>C (p.Ala253=) c.2280A>C (p.Ala760=) c.2409A>C (p.Ala803=) c.2128+5985A>C (n.2128+5985A>C) n.2617A>C n.2825A>C c.2034A>C (p.Ala678=) c.1059A>C (p.Ala353=) c.1773A>C (p.Ala591=) n.2569A>C n.2777A>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427941A>G | CA422808988 | CRB1 | c.2616A>G (p.Ala872=) c.1497A>G (p.Ala499=) c.759A>G (p.Ala253=) c.2280A>G (p.Ala760=) c.2409A>G (p.Ala803=) c.2128+5985A>G (n.2128+5985A>G) n.2617A>G n.2825A>G c.2034A>G (p.Ala678=) c.1059A>G (p.Ala353=) c.1773A>G (p.Ala591=) n.2569A>G n.2777A>G | gnomAD v4 |
1 | g.197427941A>T | CA422808987 | CRB1 | c.2616A>T (p.Ala872=) c.1497A>T (p.Ala499=) c.759A>T (p.Ala253=) c.2280A>T (p.Ala760=) c.2409A>T (p.Ala803=) c.2128+5985A>T (n.2128+5985A>T) n.2617A>T n.2825A>T c.2034A>T (p.Ala678=) c.1059A>T (p.Ala353=) c.1773A>T (p.Ala591=) n.2569A>T n.2777A>T | |
1 | g.197427942T>A | CA344038554 | CRB1 | c.2617T>A (p.Ser873Thr) c.1498T>A (p.Ser500Thr) c.760T>A (p.Ser254Thr) c.2281T>A (p.Ser761Thr) c.2410T>A (p.Ser804Thr) c.2128+5986T>A (n.2128+5986T>A) n.2618T>A n.2826T>A c.2035T>A (p.Ser679Thr) c.1060T>A (p.Ser354Thr) c.1774T>A (p.Ser592Thr) n.2570T>A n.2778T>A | |
1 | g.197427942T>C | CA344038556 | CRB1 | c.2617T>C (p.Ser873Pro) c.1498T>C (p.Ser500Pro) c.760T>C (p.Ser254Pro) c.2281T>C (p.Ser761Pro) c.2410T>C (p.Ser804Pro) c.2128+5986T>C (n.2128+5986T>C) n.2618T>C n.2826T>C c.2035T>C (p.Ser679Pro) c.1060T>C (p.Ser354Pro) c.1774T>C (p.Ser592Pro) n.2570T>C n.2778T>C | |
1 | g.197427942T>G | CA344038559 | CRB1 | c.2617T>G (p.Ser873Ala) c.1498T>G (p.Ser500Ala) c.760T>G (p.Ser254Ala) c.2281T>G (p.Ser761Ala) c.2410T>G (p.Ser804Ala) c.2128+5986T>G (n.2128+5986T>G) n.2618T>G n.2826T>G c.2035T>G (p.Ser679Ala) c.1060T>G (p.Ser354Ala) c.1774T>G (p.Ser592Ala) n.2570T>G n.2778T>G | |
1 | g.197427943C>A | CA344038560 | CRB1 | c.2618C>A (p.Ser873Tyr) c.1499C>A (p.Ser500Tyr) c.761C>A (p.Ser254Tyr) c.2282C>A (p.Ser761Tyr) c.2411C>A (p.Ser804Tyr) c.2128+5987C>A (n.2128+5987C>A) n.2619C>A n.2827C>A c.2036C>A (p.Ser679Tyr) c.1061C>A (p.Ser354Tyr) c.1775C>A (p.Ser592Tyr) n.2571C>A n.2779C>A | |
1 | g.197427943C= | CA1218066505 | CRB1 | c.2618C= (p.Ser873=) c.1499C= (p.Ser500=) c.761C= (p.Ser254=) c.2282C= (p.Ser761=) c.2411C= (p.Ser804=) c.2128+5987C= (n.2128+5987C=) n.2619C= n.2827C= c.2036C= (p.Ser679=) c.1061C= (p.Ser354=) c.1775C= (p.Ser592=) n.2571C= n.2779C= | |
1 | g.197427943C>G | CA344038561 | CRB1 | c.2618C>G (p.Ser873Cys) c.1499C>G (p.Ser500Cys) c.761C>G (p.Ser254Cys) c.2282C>G (p.Ser761Cys) c.2411C>G (p.Ser804Cys) c.2128+5987C>G (n.2128+5987C>G) n.2619C>G n.2827C>G c.2036C>G (p.Ser679Cys) c.1061C>G (p.Ser354Cys) c.1775C>G (p.Ser592Cys) n.2571C>G n.2779C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427943C>T | CA344038562 | CRB1 | c.2618C>T (p.Ser873Phe) c.1499C>T (p.Ser500Phe) c.761C>T (p.Ser254Phe) c.2282C>T (p.Ser761Phe) c.2411C>T (p.Ser804Phe) c.2128+5987C>T (n.2128+5987C>T) n.2619C>T n.2827C>T c.2036C>T (p.Ser679Phe) c.1061C>T (p.Ser354Phe) c.1775C>T (p.Ser592Phe) n.2571C>T n.2779C>T | |
1 | g.197427944T>A | CA422808991 | CRB1 | c.2619T>A (p.Ser873=) c.1500T>A (p.Ser500=) c.762T>A (p.Ser254=) c.2283T>A (p.Ser761=) c.2412T>A (p.Ser804=) c.2128+5988T>A (n.2128+5988T>A) n.2620T>A n.2828T>A c.2037T>A (p.Ser679=) c.1062T>A (p.Ser354=) c.1776T>A (p.Ser592=) n.2572T>A n.2780T>A | |
1 | g.197427944T>C | CA422808993 | CRB1 | c.2619T>C (p.Ser873=) c.1500T>C (p.Ser500=) c.762T>C (p.Ser254=) c.2283T>C (p.Ser761=) c.2412T>C (p.Ser804=) c.2128+5988T>C (n.2128+5988T>C) n.2620T>C n.2828T>C c.2037T>C (p.Ser679=) c.1062T>C (p.Ser354=) c.1776T>C (p.Ser592=) n.2572T>C n.2780T>C | |
1 | g.197427944T>G | CA422808994 | CRB1 | c.2619T>G (p.Ser873=) c.1500T>G (p.Ser500=) c.762T>G (p.Ser254=) c.2283T>G (p.Ser761=) c.2412T>G (p.Ser804=) c.2128+5988T>G (n.2128+5988T>G) n.2620T>G n.2828T>G c.2037T>G (p.Ser679=) c.1062T>G (p.Ser354=) c.1776T>G (p.Ser592=) n.2572T>G n.2780T>G | |
1 | g.197427945C>A | CA344038565 | CRB1 | c.2620C>A (p.Leu874Ile) c.1501C>A (p.Leu501Ile) c.763C>A (p.Leu255Ile) c.2284C>A (p.Leu762Ile) c.2413C>A (p.Leu805Ile) c.2128+5989C>A (n.2128+5989C>A) n.2621C>A n.2829C>A c.2038C>A (p.Leu680Ile) c.1063C>A (p.Leu355Ile) c.1777C>A (p.Leu593Ile) n.2573C>A n.2781C>A | |
1 | g.197427945C>G | CA344038564 | CRB1 | c.2620C>G (p.Leu874Val) c.1501C>G (p.Leu501Val) c.763C>G (p.Leu255Val) c.2284C>G (p.Leu762Val) c.2413C>G (p.Leu805Val) c.2128+5989C>G (n.2128+5989C>G) n.2621C>G n.2829C>G c.2038C>G (p.Leu680Val) c.1063C>G (p.Leu355Val) c.1777C>G (p.Leu593Val) n.2573C>G n.2781C>G | |
1 | g.197427945C>T | CA344038563 | CRB1 | c.2620C>T (p.Leu874Phe) c.1501C>T (p.Leu501Phe) c.763C>T (p.Leu255Phe) c.2284C>T (p.Leu762Phe) c.2413C>T (p.Leu805Phe) c.2128+5989C>T (n.2128+5989C>T) n.2621C>T n.2829C>T c.2038C>T (p.Leu680Phe) c.1063C>T (p.Leu355Phe) c.1777C>T (p.Leu593Phe) n.2573C>T n.2781C>T | COSMIC |
1 | g.197427946T>A | CA344038566 | CRB1 | c.2621T>A (p.Leu874His) c.1502T>A (p.Leu501His) c.764T>A (p.Leu255His) c.2285T>A (p.Leu762His) c.2414T>A (p.Leu805His) c.2128+5990T>A (n.2128+5990T>A) n.2622T>A n.2830T>A c.2039T>A (p.Leu680His) c.1064T>A (p.Leu355His) c.1778T>A (p.Leu593His) n.2574T>A n.2782T>A | |
1 | g.197427946T>C | CA344038567 | CRB1 | c.2621T>C (p.Leu874Pro) c.1502T>C (p.Leu501Pro) c.764T>C (p.Leu255Pro) c.2285T>C (p.Leu762Pro) c.2414T>C (p.Leu805Pro) c.2128+5990T>C (n.2128+5990T>C) n.2622T>C n.2830T>C c.2039T>C (p.Leu680Pro) c.1064T>C (p.Leu355Pro) c.1778T>C (p.Leu593Pro) n.2574T>C n.2782T>C | |
1 | g.197427946T>G | CA344038568 | CRB1 | c.2621T>G (p.Leu874Arg) c.1502T>G (p.Leu501Arg) c.764T>G (p.Leu255Arg) c.2285T>G (p.Leu762Arg) c.2414T>G (p.Leu805Arg) c.2128+5990T>G (n.2128+5990T>G) n.2622T>G n.2830T>G c.2039T>G (p.Leu680Arg) c.1064T>G (p.Leu355Arg) c.1778T>G (p.Leu593Arg) n.2574T>G n.2782T>G | |
1 | g.197427947C>A | CA422808997 | CRB1 | c.2622C>A (p.Leu874=) c.1503C>A (p.Leu501=) c.765C>A (p.Leu255=) c.2286C>A (p.Leu762=) c.2415C>A (p.Leu805=) c.2128+5991C>A (n.2128+5991C>A) n.2623C>A n.2831C>A c.2040C>A (p.Leu680=) c.1065C>A (p.Leu355=) c.1779C>A (p.Leu593=) n.2575C>A n.2783C>A | |
1 | g.197427947C>G | CA422808999 | CRB1 | c.2622C>G (p.Leu874=) c.1503C>G (p.Leu501=) c.765C>G (p.Leu255=) c.2286C>G (p.Leu762=) c.2415C>G (p.Leu805=) c.2128+5991C>G (n.2128+5991C>G) n.2623C>G n.2831C>G c.2040C>G (p.Leu680=) c.1065C>G (p.Leu355=) c.1779C>G (p.Leu593=) n.2575C>G n.2783C>G | ClinVar |
1 | g.197427947C>T | CA422809001 | CRB1 | c.2622C>T (p.Leu874=) c.1503C>T (p.Leu501=) c.765C>T (p.Leu255=) c.2286C>T (p.Leu762=) c.2415C>T (p.Leu805=) c.2128+5991C>T (n.2128+5991C>T) n.2623C>T n.2831C>T c.2040C>T (p.Leu680=) c.1065C>T (p.Leu355=) c.1779C>T (p.Leu593=) n.2575C>T n.2783C>T | |
1 | g.197427948A= | CA1218066508 | CRB1 | c.2623A= (p.Asn875=) c.1504A= (p.Asn502=) c.766A= (p.Asn256=) c.2287A= (p.Asn763=) c.2416A= (p.Asn806=) c.2128+5992A= (n.2128+5992A=) n.2624A= n.2832A= c.2041A= (p.Asn681=) c.1066A= (p.Asn356=) c.1780A= (p.Asn594=) n.2576A= n.2784A= | |
1 | g.197427948A>C | CA344038569 | CRB1 | c.2623A>C (p.Asn875His) c.1504A>C (p.Asn502His) c.766A>C (p.Asn256His) c.2287A>C (p.Asn763His) c.2416A>C (p.Asn806His) c.2128+5992A>C (n.2128+5992A>C) n.2624A>C n.2832A>C c.2041A>C (p.Asn681His) c.1066A>C (p.Asn356His) c.1780A>C (p.Asn594His) n.2576A>C n.2784A>C | |
1 | g.197427948A>G | CA344038570 | CRB1 | c.2623A>G (p.Asn875Asp) c.1504A>G (p.Asn502Asp) c.766A>G (p.Asn256Asp) c.2287A>G (p.Asn763Asp) c.2416A>G (p.Asn806Asp) c.2128+5992A>G (n.2128+5992A>G) n.2624A>G n.2832A>G c.2041A>G (p.Asn681Asp) c.1066A>G (p.Asn356Asp) c.1780A>G (p.Asn594Asp) n.2576A>G n.2784A>G | dbSNP gnomAD v4 |
1 | g.197427948A>T | CA344038571 | CRB1 | c.2623A>T (p.Asn875Tyr) c.1504A>T (p.Asn502Tyr) c.766A>T (p.Asn256Tyr) c.2287A>T (p.Asn763Tyr) c.2416A>T (p.Asn806Tyr) c.2128+5992A>T (n.2128+5992A>T) n.2624A>T n.2832A>T c.2041A>T (p.Asn681Tyr) c.1066A>T (p.Asn356Tyr) c.1780A>T (p.Asn594Tyr) n.2576A>T n.2784A>T | |
1 | g.197427949A= | CA1218066509 | CRB1 | c.2624A= (p.Asn875=) c.1505A= (p.Asn502=) c.767A= (p.Asn256=) c.2288A= (p.Asn763=) c.2417A= (p.Asn806=) c.2128+5993A= (n.2128+5993A=) n.2625A= n.2833A= c.2042A= (p.Asn681=) c.1067A= (p.Asn356=) c.1781A= (p.Asn594=) n.2577A= n.2785A= | |
1 | g.197427949A>C | CA344038572 | CRB1 | c.2624A>C (p.Asn875Thr) c.1505A>C (p.Asn502Thr) c.767A>C (p.Asn256Thr) c.2288A>C (p.Asn763Thr) c.2417A>C (p.Asn806Thr) c.2128+5993A>C (n.2128+5993A>C) n.2625A>C n.2833A>C c.2042A>C (p.Asn681Thr) c.1067A>C (p.Asn356Thr) c.1781A>C (p.Asn594Thr) n.2577A>C n.2785A>C | |
1 | g.197427949A>G | CA1312148 | CRB1 | c.2624A>G (p.Asn875Ser) c.1505A>G (p.Asn502Ser) c.767A>G (p.Asn256Ser) c.2288A>G (p.Asn763Ser) c.2417A>G (p.Asn806Ser) c.2128+5993A>G (n.2128+5993A>G) n.2625A>G n.2833A>G c.2042A>G (p.Asn681Ser) c.1067A>G (p.Asn356Ser) c.1781A>G (p.Asn594Ser) n.2577A>G n.2785A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427949A>T | CA344038573 | CRB1 | c.2624A>T (p.Asn875Ile) c.1505A>T (p.Asn502Ile) c.767A>T (p.Asn256Ile) c.2288A>T (p.Asn763Ile) c.2417A>T (p.Asn806Ile) c.2128+5993A>T (n.2128+5993A>T) n.2625A>T n.2833A>T c.2042A>T (p.Asn681Ile) c.1067A>T (p.Asn356Ile) c.1781A>T (p.Asn594Ile) n.2577A>T n.2785A>T | |
1 | g.197427950T>A | CA344038574 | CRB1 | c.2625T>A (p.Asn875Lys) c.1506T>A (p.Asn502Lys) c.768T>A (p.Asn256Lys) c.2289T>A (p.Asn763Lys) c.2418T>A (p.Asn806Lys) c.2128+5994T>A (n.2128+5994T>A) n.2626T>A n.2834T>A c.2043T>A (p.Asn681Lys) c.1068T>A (p.Asn356Lys) c.1782T>A (p.Asn594Lys) n.2578T>A n.2786T>A | |
1 | g.197427950T>C | CA422809008 | CRB1 | c.2625T>C (p.Asn875=) c.1506T>C (p.Asn502=) c.768T>C (p.Asn256=) c.2289T>C (p.Asn763=) c.2418T>C (p.Asn806=) c.2128+5994T>C (n.2128+5994T>C) n.2626T>C n.2834T>C c.2043T>C (p.Asn681=) c.1068T>C (p.Asn356=) c.1782T>C (p.Asn594=) n.2578T>C n.2786T>C | |
1 | g.197427950T>G | CA344038576 | CRB1 | c.2625T>G (p.Asn875Lys) c.1506T>G (p.Asn502Lys) c.768T>G (p.Asn256Lys) c.2289T>G (p.Asn763Lys) c.2418T>G (p.Asn806Lys) c.2128+5994T>G (n.2128+5994T>G) n.2626T>G n.2834T>G c.2043T>G (p.Asn681Lys) c.1068T>G (p.Asn356Lys) c.1782T>G (p.Asn594Lys) n.2578T>G n.2786T>G | |
1 | g.197427951C>A | CA344038577 | CRB1 | c.2626C>A (p.Pro876Thr) c.1507C>A (p.Pro503Thr) c.769C>A (p.Pro257Thr) c.2290C>A (p.Pro764Thr) c.2419C>A (p.Pro807Thr) c.2128+5995C>A (n.2128+5995C>A) n.2627C>A n.2835C>A c.2044C>A (p.Pro682Thr) c.1069C>A (p.Pro357Thr) c.1783C>A (p.Pro595Thr) n.2579C>A n.2787C>A | |
1 | g.197427951C>G | CA344038578 | CRB1 | c.2626C>G (p.Pro876Ala) c.1507C>G (p.Pro503Ala) c.769C>G (p.Pro257Ala) c.2290C>G (p.Pro764Ala) c.2419C>G (p.Pro807Ala) c.2128+5995C>G (n.2128+5995C>G) n.2627C>G n.2835C>G c.2044C>G (p.Pro682Ala) c.1069C>G (p.Pro357Ala) c.1783C>G (p.Pro595Ala) n.2579C>G n.2787C>G | |
1 | g.197427951C>T | CA344038579 | CRB1 | c.2626C>T (p.Pro876Ser) c.1507C>T (p.Pro503Ser) c.769C>T (p.Pro257Ser) c.2290C>T (p.Pro764Ser) c.2419C>T (p.Pro807Ser) c.2128+5995C>T (n.2128+5995C>T) n.2627C>T n.2835C>T c.2044C>T (p.Pro682Ser) c.1069C>T (p.Pro357Ser) c.1783C>T (p.Pro595Ser) n.2579C>T n.2787C>T | |
1 | g.197427951_197427952insTAGAGAGTTG | CA1010909862 | CRB1 | c.2626_2627insTAGAGAGTTG (p.Pro876LeufsTer?) c.1507_1508insTAGAGAGTTG (p.Pro503LeufsTer?) c.769_770insTAGAGAGTTG (p.Pro257LeufsTer?) c.2290_2291insTAGAGAGTTG (p.Pro764LeufsTer?) c.2419_2420insTAGAGAGTTG (p.Pro807LeufsTer31) c.2128+5995_2128+5996insTAGAGAGTTG (n.2128+5995_2128+5996insTAGAGAGTTG) n.2627_2628insTAGAGAGTTG n.2835_2836insTAGAGAGTTG c.2044_2045insTAGAGAGTTG (p.Pro682LeufsTer?) c.1069_1070insTAGAGAGTTG (p.Pro357LeufsTer?) c.1783_1784insTAGAGAGTTG (p.Pro595LeufsTer?) c.2626_2627insTAGAGAGTTG (p.Pro876LeufsTer31) n.2579_2580insTAGAGAGTTG n.2787_2788insTAGAGAGTTG | gnomAD v3 gnomAD v4 |
1 | g.197427952C>A | CA344038580 | CRB1 | c.2627C>A (p.Pro876Gln) c.1508C>A (p.Pro503Gln) c.770C>A (p.Pro257Gln) c.2291C>A (p.Pro764Gln) c.2420C>A (p.Pro807Gln) c.2128+5996C>A (n.2128+5996C>A) n.2628C>A n.2836C>A c.2045C>A (p.Pro682Gln) c.1070C>A (p.Pro357Gln) c.1784C>A (p.Pro595Gln) n.2580C>A n.2788C>A | |
1 | g.197427952C= | CA1218066511 | CRB1 | c.2627C= (p.Pro876=) c.1508C= (p.Pro503=) c.770C= (p.Pro257=) c.2291C= (p.Pro764=) c.2420C= (p.Pro807=) c.2128+5996C= (n.2128+5996C=) n.2628C= n.2836C= c.2045C= (p.Pro682=) c.1070C= (p.Pro357=) c.1784C= (p.Pro595=) n.2580C= n.2788C= | |
1 | g.197427952C>G | CA344038581 | CRB1 | c.2627C>G (p.Pro876Arg) c.1508C>G (p.Pro503Arg) c.770C>G (p.Pro257Arg) c.2291C>G (p.Pro764Arg) c.2420C>G (p.Pro807Arg) c.2128+5996C>G (n.2128+5996C>G) n.2628C>G n.2836C>G c.2045C>G (p.Pro682Arg) c.1070C>G (p.Pro357Arg) c.1784C>G (p.Pro595Arg) n.2580C>G n.2788C>G | |
1 | g.197427952C>T | CA1312149 | CRB1 | c.2627C>T (p.Pro876Leu) c.1508C>T (p.Pro503Leu) c.770C>T (p.Pro257Leu) c.2291C>T (p.Pro764Leu) c.2420C>T (p.Pro807Leu) c.2128+5996C>T (n.2128+5996C>T) n.2628C>T n.2836C>T c.2045C>T (p.Pro682Leu) c.1070C>T (p.Pro357Leu) c.1784C>T (p.Pro595Leu) n.2580C>T n.2788C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427953A= | CA1218066515 | CRB1 | c.2628A= (p.Pro876=) c.1509A= (p.Pro503=) c.771A= (p.Pro257=) c.2292A= (p.Pro764=) c.2421A= (p.Pro807=) c.2128+5997A= (n.2128+5997A=) n.2629A= n.2837A= c.2046A= (p.Pro682=) c.1071A= (p.Pro357=) c.1785A= (p.Pro595=) n.2581A= n.2789A= | |
1 | g.197427953A>C | CA422809010 | CRB1 | c.2628A>C (p.Pro876=) c.1509A>C (p.Pro503=) c.771A>C (p.Pro257=) c.2292A>C (p.Pro764=) c.2421A>C (p.Pro807=) c.2128+5997A>C (n.2128+5997A>C) n.2629A>C n.2837A>C c.2046A>C (p.Pro682=) c.1071A>C (p.Pro357=) c.1785A>C (p.Pro595=) n.2581A>C n.2789A>C | |
1 | g.197427953A>G | CA35901140 | CRB1 | c.2628A>G (p.Pro876=) c.1509A>G (p.Pro503=) c.771A>G (p.Pro257=) c.2292A>G (p.Pro764=) c.2421A>G (p.Pro807=) c.2128+5997A>G (n.2128+5997A>G) n.2629A>G n.2837A>G c.2046A>G (p.Pro682=) c.1071A>G (p.Pro357=) c.1785A>G (p.Pro595=) n.2581A>G n.2789A>G | ClinVar dbSNP |
1 | g.197427953A>T | CA422809011 | CRB1 | c.2628A>T (p.Pro876=) c.1509A>T (p.Pro503=) c.771A>T (p.Pro257=) c.2292A>T (p.Pro764=) c.2421A>T (p.Pro807=) c.2128+5997A>T (n.2128+5997A>T) n.2629A>T n.2837A>T c.2046A>T (p.Pro682=) c.1071A>T (p.Pro357=) c.1785A>T (p.Pro595=) n.2581A>T n.2789A>T | |
1 | g.197427954G>A | CA344038582 | CRB1 | c.2629G>A (p.Val877Ile) c.1510G>A (p.Val504Ile) c.772G>A (p.Val258Ile) c.2293G>A (p.Val765Ile) c.2422G>A (p.Val808Ile) c.2128+5998G>A (n.2128+5998G>A) n.2630G>A n.2838G>A c.2047G>A (p.Val683Ile) c.1072G>A (p.Val358Ile) c.1786G>A (p.Val596Ile) n.2582G>A n.2790G>A | |
1 | g.197427954G>C | CA344038583 | CRB1 | c.2629G>C (p.Val877Leu) c.1510G>C (p.Val504Leu) c.772G>C (p.Val258Leu) c.2293G>C (p.Val765Leu) c.2422G>C (p.Val808Leu) c.2128+5998G>C (n.2128+5998G>C) n.2630G>C n.2838G>C c.2047G>C (p.Val683Leu) c.1072G>C (p.Val358Leu) c.1786G>C (p.Val596Leu) n.2582G>C n.2790G>C | |
1 | g.197427954G>T | CA344038584 | CRB1 | c.2629G>T (p.Val877Phe) c.1510G>T (p.Val504Phe) c.772G>T (p.Val258Phe) c.2293G>T (p.Val765Phe) c.2422G>T (p.Val808Phe) c.2128+5998G>T (n.2128+5998G>T) n.2630G>T n.2838G>T c.2047G>T (p.Val683Phe) c.1072G>T (p.Val358Phe) c.1786G>T (p.Val596Phe) n.2582G>T n.2790G>T | |
1 | g.197427954_197427955insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG | CA1010909870 | CRB1 | c.2629_2630insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (p.Val877AlafsTer22) c.1510_1511insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (p.Val504AlafsTer22) c.772_773insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (p.Val258AlafsTer22) c.2293_2294insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (p.Val765AlafsTer22) c.2422_2423insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (p.Val808AlafsTer22) c.2128+5998_2128+5999insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (n.2128+5998_2128+5999insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG) n.2630_2631insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG n.2838_2839insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG c.2047_2048insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (p.Val683AlafsTer22) c.1072_1073insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (p.Val358AlafsTer22) c.1786_1787insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG (p.Val596AlafsTer22) n.2582_2583insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG n.2790_2791insCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTG | gnomAD v3 gnomAD v4 |
1 | g.197427955T>A | CA344038585 | CRB1 | c.2630T>A (p.Val877Asp) c.1511T>A (p.Val504Asp) c.773T>A (p.Val258Asp) c.2294T>A (p.Val765Asp) c.2423T>A (p.Val808Asp) c.2128+5999T>A (n.2128+5999T>A) n.2631T>A n.2839T>A c.2048T>A (p.Val683Asp) c.1073T>A (p.Val358Asp) c.1787T>A (p.Val596Asp) n.2583T>A n.2791T>A | |
1 | g.197427955T>C | CA344038587 | CRB1 | c.2630T>C (p.Val877Ala) c.1511T>C (p.Val504Ala) c.773T>C (p.Val258Ala) c.2294T>C (p.Val765Ala) c.2423T>C (p.Val808Ala) c.2128+5999T>C (n.2128+5999T>C) n.2631T>C n.2839T>C c.2048T>C (p.Val683Ala) c.1073T>C (p.Val358Ala) c.1787T>C (p.Val596Ala) n.2583T>C n.2791T>C | gnomAD v4 |
1 | g.197427955T>G | CA344038586 | CRB1 | c.2630T>G (p.Val877Gly) c.1511T>G (p.Val504Gly) c.773T>G (p.Val258Gly) c.2294T>G (p.Val765Gly) c.2423T>G (p.Val808Gly) c.2128+5999T>G (n.2128+5999T>G) n.2631T>G n.2839T>G c.2048T>G (p.Val683Gly) c.1073T>G (p.Val358Gly) c.1787T>G (p.Val596Gly) n.2583T>G n.2791T>G | |
1 | g.197427955_197427956dup | CA2499214387 | CRB1 | c.2630_2631dup (p.Leu878PhefsTer5) c.1511_1512dup (p.Leu505PhefsTer5) c.773_774dup (p.Leu259PhefsTer5) c.2294_2295dup (p.Leu766PhefsTer5) c.2423_2424dup (p.Leu809PhefsTer5) c.2128+5999_2128+6000dup (n.2128+5999_2128+6000dup) n.2631_2632dup n.2839_2840dup c.2048_2049dup (p.Leu684PhefsTer5) c.1073_1074dup (p.Leu359PhefsTer5) c.1787_1788dup (p.Leu597PhefsTer5) n.2583_2584dup n.2791_2792dup | ClinVar dbSNP |
1 | g.197427956T>A | CA422809014 | CRB1 | c.2631T>A (p.Val877=) c.1512T>A (p.Val504=) c.774T>A (p.Val258=) c.2295T>A (p.Val765=) c.2424T>A (p.Val808=) c.2128+6000T>A (n.2128+6000T>A) n.2632T>A n.2840T>A c.2049T>A (p.Val683=) c.1074T>A (p.Val358=) c.1788T>A (p.Val596=) n.2584T>A n.2792T>A | |
1 | g.197427956T>C | CA422809015 | CRB1 | c.2631T>C (p.Val877=) c.1512T>C (p.Val504=) c.774T>C (p.Val258=) c.2295T>C (p.Val765=) c.2424T>C (p.Val808=) c.2128+6000T>C (n.2128+6000T>C) n.2632T>C n.2840T>C c.2049T>C (p.Val683=) c.1074T>C (p.Val358=) c.1788T>C (p.Val596=) n.2584T>C n.2792T>C | |
1 | g.197427956T>G | CA422809016 | CRB1 | c.2631T>G (p.Val877=) c.1512T>G (p.Val504=) c.774T>G (p.Val258=) c.2295T>G (p.Val765=) c.2424T>G (p.Val808=) c.2128+6000T>G (n.2128+6000T>G) n.2632T>G n.2840T>G c.2049T>G (p.Val683=) c.1074T>G (p.Val358=) c.1788T>G (p.Val596=) n.2584T>G n.2792T>G | |
1 | g.197427957C>A | CA344038588 | CRB1 | c.2632C>A (p.Leu878Ile) c.1513C>A (p.Leu505Ile) c.775C>A (p.Leu259Ile) c.2296C>A (p.Leu766Ile) c.2425C>A (p.Leu809Ile) c.2128+6001C>A (n.2128+6001C>A) n.2633C>A n.2841C>A c.2050C>A (p.Leu684Ile) c.1075C>A (p.Leu359Ile) c.1789C>A (p.Leu597Ile) n.2585C>A n.2793C>A | COSMIC COSMIC |
1 | g.197427957C= | CA1218066517 | CRB1 | c.2632C= (p.Leu878=) c.1513C= (p.Leu505=) c.775C= (p.Leu259=) c.2296C= (p.Leu766=) c.2425C= (p.Leu809=) c.2128+6001C= (n.2128+6001C=) n.2633C= n.2841C= c.2050C= (p.Leu684=) c.1075C= (p.Leu359=) c.1789C= (p.Leu597=) n.2585C= n.2793C= | |
1 | g.197427957C>G | CA344038589 | CRB1 | c.2632C>G (p.Leu878Val) c.1513C>G (p.Leu505Val) c.775C>G (p.Leu259Val) c.2296C>G (p.Leu766Val) c.2425C>G (p.Leu809Val) c.2128+6001C>G (n.2128+6001C>G) n.2633C>G n.2841C>G c.2050C>G (p.Leu684Val) c.1075C>G (p.Leu359Val) c.1789C>G (p.Leu597Val) n.2585C>G n.2793C>G | |
1 | g.197427957C>T | CA1312150 | CRB1 | c.2632C>T (p.Leu878Phe) c.1513C>T (p.Leu505Phe) c.775C>T (p.Leu259Phe) c.2296C>T (p.Leu766Phe) c.2425C>T (p.Leu809Phe) c.2128+6001C>T (n.2128+6001C>T) n.2633C>T n.2841C>T c.2050C>T (p.Leu684Phe) c.1075C>T (p.Leu359Phe) c.1789C>T (p.Leu597Phe) n.2585C>T n.2793C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427958T>A | CA344038590 | CRB1 | c.2633T>A (p.Leu878His) c.1514T>A (p.Leu505His) c.776T>A (p.Leu259His) c.2297T>A (p.Leu766His) c.2426T>A (p.Leu809His) c.2128+6002T>A (n.2128+6002T>A) n.2634T>A n.2842T>A c.2051T>A (p.Leu684His) c.1076T>A (p.Leu359His) c.1790T>A (p.Leu597His) n.2586T>A n.2794T>A | |
1 | g.197427958T>C | CA344038591 | CRB1 | c.2633T>C (p.Leu878Pro) c.1514T>C (p.Leu505Pro) c.776T>C (p.Leu259Pro) c.2297T>C (p.Leu766Pro) c.2426T>C (p.Leu809Pro) c.2128+6002T>C (n.2128+6002T>C) n.2634T>C n.2842T>C c.2051T>C (p.Leu684Pro) c.1076T>C (p.Leu359Pro) c.1790T>C (p.Leu597Pro) n.2586T>C n.2794T>C | dbSNP gnomAD v4 |
1 | g.197427958T>G | CA344038592 | CRB1 | c.2633T>G (p.Leu878Arg) c.1514T>G (p.Leu505Arg) c.776T>G (p.Leu259Arg) c.2297T>G (p.Leu766Arg) c.2426T>G (p.Leu809Arg) c.2128+6002T>G (n.2128+6002T>G) n.2634T>G n.2842T>G c.2051T>G (p.Leu684Arg) c.1076T>G (p.Leu359Arg) c.1790T>G (p.Leu597Arg) n.2586T>G n.2794T>G | |
1 | g.197427958T= | CA1218066520 | CRB1 | c.2633T= (p.Leu878=) c.1514T= (p.Leu505=) c.776T= (p.Leu259=) c.2297T= (p.Leu766=) c.2426T= (p.Leu809=) c.2128+6002T= (n.2128+6002T=) n.2634T= n.2842T= c.2051T= (p.Leu684=) c.1076T= (p.Leu359=) c.1790T= (p.Leu597=) n.2586T= n.2794T= | |
1 | g.197427959T>A | CA422809019 | CRB1 | c.2634T>A (p.Leu878=) c.1515T>A (p.Leu505=) c.777T>A (p.Leu259=) c.2298T>A (p.Leu766=) c.2427T>A (p.Leu809=) c.2128+6003T>A (n.2128+6003T>A) n.2635T>A n.2843T>A c.2052T>A (p.Leu684=) c.1077T>A (p.Leu359=) c.1791T>A (p.Leu597=) n.2587T>A n.2795T>A | gnomAD v4 |
1 | g.197427959T>C | CA422809021 | CRB1 | c.2634T>C (p.Leu878=) c.1515T>C (p.Leu505=) c.777T>C (p.Leu259=) c.2298T>C (p.Leu766=) c.2427T>C (p.Leu809=) c.2128+6003T>C (n.2128+6003T>C) n.2635T>C n.2843T>C c.2052T>C (p.Leu684=) c.1077T>C (p.Leu359=) c.1791T>C (p.Leu597=) n.2587T>C n.2795T>C | ClinVar dbSNP |
1 | g.197427959T>G | CA422809022 | CRB1 | c.2634T>G (p.Leu878=) c.1515T>G (p.Leu505=) c.777T>G (p.Leu259=) c.2298T>G (p.Leu766=) c.2427T>G (p.Leu809=) c.2128+6003T>G (n.2128+6003T>G) n.2635T>G n.2843T>G c.2052T>G (p.Leu684=) c.1077T>G (p.Leu359=) c.1791T>G (p.Leu597=) n.2587T>G n.2795T>G | |
1 | g.197427960G>A | CA1312151 | CRB1 | c.2635G>A (p.Val879Ile) c.1516G>A (p.Val506Ile) c.778G>A (p.Val260Ile) c.2299G>A (p.Val767Ile) c.2428G>A (p.Val810Ile) c.2128+6004G>A (n.2128+6004G>A) n.2636G>A n.2844G>A c.2053G>A (p.Val685Ile) c.1078G>A (p.Val360Ile) c.1792G>A (p.Val598Ile) n.2588G>A n.2796G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427960G>C | CA344038593 | CRB1 | c.2635G>C (p.Val879Leu) c.1516G>C (p.Val506Leu) c.778G>C (p.Val260Leu) c.2299G>C (p.Val767Leu) c.2428G>C (p.Val810Leu) c.2128+6004G>C (n.2128+6004G>C) n.2636G>C n.2844G>C c.2053G>C (p.Val685Leu) c.1078G>C (p.Val360Leu) c.1792G>C (p.Val598Leu) n.2588G>C n.2796G>C | |
1 | g.197427960G= | CA1143409575 | CRB1 | c.2635G= (p.Val879=) c.1516G= (p.Val506=) c.778G= (p.Val260=) c.2299G= (p.Val767=) c.2428G= (p.Val810=) c.2128+6004G= (n.2128+6004G=) n.2636G= n.2844G= c.2053G= (p.Val685=) c.1078G= (p.Val360=) c.1792G= (p.Val598=) n.2588G= n.2796G= | |
1 | g.197427960G>T | CA344038594 | CRB1 | c.2635G>T (p.Val879Phe) c.1516G>T (p.Val506Phe) c.778G>T (p.Val260Phe) c.2299G>T (p.Val767Phe) c.2428G>T (p.Val810Phe) c.2128+6004G>T (n.2128+6004G>T) n.2636G>T n.2844G>T c.2053G>T (p.Val685Phe) c.1078G>T (p.Val360Phe) c.1792G>T (p.Val598Phe) n.2588G>T n.2796G>T | |
1 | g.197427961T>A | CA344038595 | CRB1 | c.2636T>A (p.Val879Asp) c.1517T>A (p.Val506Asp) c.779T>A (p.Val260Asp) c.2300T>A (p.Val767Asp) c.2429T>A (p.Val810Asp) c.2128+6005T>A (n.2128+6005T>A) n.2637T>A n.2845T>A c.2054T>A (p.Val685Asp) c.1079T>A (p.Val360Asp) c.1793T>A (p.Val598Asp) n.2589T>A n.2797T>A | |
1 | g.197427961T>C | CA1312152 | CRB1 | c.2636T>C (p.Val879Ala) c.1517T>C (p.Val506Ala) c.779T>C (p.Val260Ala) c.2300T>C (p.Val767Ala) c.2429T>C (p.Val810Ala) c.2128+6005T>C (n.2128+6005T>C) n.2637T>C n.2845T>C c.2054T>C (p.Val685Ala) c.1079T>C (p.Val360Ala) c.1793T>C (p.Val598Ala) n.2589T>C n.2797T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427961T>G | CA344038596 | CRB1 | c.2636T>G (p.Val879Gly) c.1517T>G (p.Val506Gly) c.779T>G (p.Val260Gly) c.2300T>G (p.Val767Gly) c.2429T>G (p.Val810Gly) c.2128+6005T>G (n.2128+6005T>G) n.2637T>G n.2845T>G c.2054T>G (p.Val685Gly) c.1079T>G (p.Val360Gly) c.1793T>G (p.Val598Gly) n.2589T>G n.2797T>G | |
1 | g.197427961T= | CA1218066523 | CRB1 | c.2636T= (p.Val879=) c.1517T= (p.Val506=) c.779T= (p.Val260=) c.2300T= (p.Val767=) c.2429T= (p.Val810=) c.2128+6005T= (n.2128+6005T=) n.2637T= n.2845T= c.2054T= (p.Val685=) c.1079T= (p.Val360=) c.1793T= (p.Val598=) n.2589T= n.2797T= | |
1 | g.197427962C>A | CA422809026 | CRB1 | c.2637C>A (p.Val879=) c.1518C>A (p.Val506=) c.780C>A (p.Val260=) c.2301C>A (p.Val767=) c.2430C>A (p.Val810=) c.2128+6006C>A (n.2128+6006C>A) n.2638C>A n.2846C>A c.2055C>A (p.Val685=) c.1080C>A (p.Val360=) c.1794C>A (p.Val598=) n.2590C>A n.2798C>A | |
1 | g.197427962C= | CA1142366503 | CRB1 | c.2637C= (p.Val879=) c.1518C= (p.Val506=) c.780C= (p.Val260=) c.2301C= (p.Val767=) c.2430C= (p.Val810=) c.2128+6006C= (n.2128+6006C=) n.2638C= n.2846C= c.2055C= (p.Val685=) c.1080C= (p.Val360=) c.1794C= (p.Val598=) n.2590C= n.2798C= | |
1 | g.197427962C>G | CA1312153 | CRB1 | c.2637C>G (p.Val879=) c.1518C>G (p.Val506=) c.780C>G (p.Val260=) c.2301C>G (p.Val767=) c.2430C>G (p.Val810=) c.2128+6006C>G (n.2128+6006C>G) n.2638C>G n.2846C>G c.2055C>G (p.Val685=) c.1080C>G (p.Val360=) c.1794C>G (p.Val598=) n.2590C>G n.2798C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427962C>T | CA422809028 | CRB1 | c.2637C>T (p.Val879=) c.1518C>T (p.Val506=) c.780C>T (p.Val260=) c.2301C>T (p.Val767=) c.2430C>T (p.Val810=) c.2128+6006C>T (n.2128+6006C>T) n.2638C>T n.2846C>T c.2055C>T (p.Val685=) c.1080C>T (p.Val360=) c.1794C>T (p.Val598=) n.2590C>T n.2798C>T | gnomAD v4 |