| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427726A= | CA1141581333 | CRB1 | c.2401A= (p.Lys801=) c.1282A= (p.Lys428=) c.544A= (p.Lys182=) c.2065A= (p.Lys689=) n.302A= c.2194A= (p.Lys732=) c.2128+5770A= (n.2128+5770A=) n.2402A= n.2610A= c.1819A= (p.Lys607=) c.844A= (p.Lys282=) c.1558A= (p.Lys520=) n.2354A= n.2562A= | |
| 1 | g.197427726A>C | CA344037152 | CRB1 | c.2401A>C (p.Lys801Gln) c.1282A>C (p.Lys428Gln) c.544A>C (p.Lys182Gln) c.2065A>C (p.Lys689Gln) n.302A>C c.2194A>C (p.Lys732Gln) c.2128+5770A>C (n.2128+5770A>C) n.2402A>C n.2610A>C c.1819A>C (p.Lys607Gln) c.844A>C (p.Lys282Gln) c.1558A>C (p.Lys520Gln) n.2354A>C n.2562A>C | |
| 1 | g.197427726A>G | CA344037154 | CRB1 | c.2401A>G (p.Lys801Glu) c.1282A>G (p.Lys428Glu) c.544A>G (p.Lys182Glu) c.2065A>G (p.Lys689Glu) n.302A>G c.2194A>G (p.Lys732Glu) c.2128+5770A>G (n.2128+5770A>G) n.2402A>G n.2610A>G c.1819A>G (p.Lys607Glu) c.844A>G (p.Lys282Glu) c.1558A>G (p.Lys520Glu) n.2354A>G n.2562A>G | |
| 1 | g.197427726A>T | CA203531 | CRB1 | c.2401A>T (p.Lys801Ter) c.1282A>T (p.Lys428Ter) c.544A>T (p.Lys182Ter) c.2065A>T (p.Lys689Ter) n.302A>T c.2194A>T (p.Lys732Ter) c.2128+5770A>T (n.2128+5770A>T) n.2402A>T n.2610A>T c.1819A>T (p.Lys607Ter) c.844A>T (p.Lys282Ter) c.1558A>T (p.Lys520Ter) n.2354A>T n.2562A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427727A>C | CA344037157 | CRB1 | c.2402A>C (p.Lys801Thr) c.1283A>C (p.Lys428Thr) c.545A>C (p.Lys182Thr) c.2066A>C (p.Lys689Thr) n.303A>C c.2195A>C (p.Lys732Thr) c.2128+5771A>C (n.2128+5771A>C) n.2403A>C n.2611A>C c.1820A>C (p.Lys607Thr) c.845A>C (p.Lys282Thr) c.1559A>C (p.Lys520Thr) n.2355A>C n.2563A>C | |
| 1 | g.197427727A>G | CA344037159 | CRB1 | c.2402A>G (p.Lys801Arg) c.1283A>G (p.Lys428Arg) c.545A>G (p.Lys182Arg) c.2066A>G (p.Lys689Arg) n.303A>G c.2195A>G (p.Lys732Arg) c.2128+5771A>G (n.2128+5771A>G) n.2403A>G n.2611A>G c.1820A>G (p.Lys607Arg) c.845A>G (p.Lys282Arg) c.1559A>G (p.Lys520Arg) n.2355A>G n.2563A>G | |
| 1 | g.197427727A>T | CA344037161 | CRB1 | c.2402A>T (p.Lys801Met) c.1283A>T (p.Lys428Met) c.545A>T (p.Lys182Met) c.2066A>T (p.Lys689Met) n.303A>T c.2195A>T (p.Lys732Met) c.2128+5771A>T (n.2128+5771A>T) n.2403A>T n.2611A>T c.1820A>T (p.Lys607Met) c.845A>T (p.Lys282Met) c.1559A>T (p.Lys520Met) n.2355A>T n.2563A>T | |
| 1 | g.197427728G>A | CA1312116 | CRB1 | c.2403G>A (p.Lys801=) c.1284G>A (p.Lys428=) c.546G>A (p.Lys182=) c.2067G>A (p.Lys689=) n.304G>A c.2196G>A (p.Lys732=) c.2128+5772G>A (n.2128+5772G>A) n.2404G>A n.2612G>A c.1821G>A (p.Lys607=) c.846G>A (p.Lys282=) c.1560G>A (p.Lys520=) n.2356G>A n.2564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427728G>C | CA344037164 | CRB1 | c.2403G>C (p.Lys801Asn) c.1284G>C (p.Lys428Asn) c.546G>C (p.Lys182Asn) c.2067G>C (p.Lys689Asn) n.304G>C c.2196G>C (p.Lys732Asn) c.2128+5772G>C (n.2128+5772G>C) n.2404G>C n.2612G>C c.1821G>C (p.Lys607Asn) c.846G>C (p.Lys282Asn) c.1560G>C (p.Lys520Asn) n.2356G>C n.2564G>C | |
| 1 | g.197427728G= | CA1147340957 | CRB1 | c.2403G= (p.Lys801=) c.1284G= (p.Lys428=) c.546G= (p.Lys182=) c.2067G= (p.Lys689=) n.304G= c.2196G= (p.Lys732=) c.2128+5772G= (n.2128+5772G=) n.2404G= n.2612G= c.1821G= (p.Lys607=) c.846G= (p.Lys282=) c.1560G= (p.Lys520=) n.2356G= n.2564G= | |
| 1 | g.197427728G>T | CA344037166 | CRB1 | c.2403G>T (p.Lys801Asn) c.1284G>T (p.Lys428Asn) c.546G>T (p.Lys182Asn) c.2067G>T (p.Lys689Asn) n.304G>T c.2196G>T (p.Lys732Asn) c.2128+5772G>T (n.2128+5772G>T) n.2404G>T n.2612G>T c.1821G>T (p.Lys607Asn) c.846G>T (p.Lys282Asn) c.1560G>T (p.Lys520Asn) n.2356G>T n.2564G>T | |
| 1 | g.197427729C>A | CA344037172 | CRB1 | c.2404C>A (p.Pro802Thr) c.1285C>A (p.Pro429Thr) c.547C>A (p.Pro183Thr) c.2068C>A (p.Pro690Thr) n.305C>A c.2197C>A (p.Pro733Thr) c.2128+5773C>A (n.2128+5773C>A) n.2405C>A n.2613C>A c.1822C>A (p.Pro608Thr) c.847C>A (p.Pro283Thr) c.1561C>A (p.Pro521Thr) n.2357C>A n.2565C>A | gnomAD v4 |
| 1 | g.197427729C= | CA1218066215 | CRB1 | c.2404C= (p.Pro802=) c.1285C= (p.Pro429=) c.547C= (p.Pro183=) c.2068C= (p.Pro690=) n.305C= c.2197C= (p.Pro733=) c.2128+5773C= (n.2128+5773C=) n.2405C= n.2613C= c.1822C= (p.Pro608=) c.847C= (p.Pro283=) c.1561C= (p.Pro521=) n.2357C= n.2565C= | |
| 1 | g.197427729C>G | CA344037170 | CRB1 | c.2404C>G (p.Pro802Ala) c.1285C>G (p.Pro429Ala) c.547C>G (p.Pro183Ala) c.2068C>G (p.Pro690Ala) n.305C>G c.2197C>G (p.Pro733Ala) c.2128+5773C>G (n.2128+5773C>G) n.2405C>G n.2613C>G c.1822C>G (p.Pro608Ala) c.847C>G (p.Pro283Ala) c.1561C>G (p.Pro521Ala) n.2357C>G n.2565C>G | |
| 1 | g.197427729C>T | CA1312117 | CRB1 | c.2404C>T (p.Pro802Ser) c.1285C>T (p.Pro429Ser) c.547C>T (p.Pro183Ser) c.2068C>T (p.Pro690Ser) n.305C>T c.2197C>T (p.Pro733Ser) c.2128+5773C>T (n.2128+5773C>T) n.2405C>T n.2613C>T c.1822C>T (p.Pro608Ser) c.847C>T (p.Pro283Ser) c.1561C>T (p.Pro521Ser) n.2357C>T n.2565C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427730C>A | CA344037175 | CRB1 | c.2405C>A (p.Pro802Gln) c.1286C>A (p.Pro429Gln) c.548C>A (p.Pro183Gln) c.2069C>A (p.Pro690Gln) n.306C>A c.2198C>A (p.Pro733Gln) c.2128+5774C>A (n.2128+5774C>A) n.2406C>A n.2614C>A c.1823C>A (p.Pro608Gln) c.848C>A (p.Pro283Gln) c.1562C>A (p.Pro521Gln) n.2358C>A n.2566C>A | |
| 1 | g.197427730C= | CA1218066218 | CRB1 | c.2405C= (p.Pro802=) c.1286C= (p.Pro429=) c.548C= (p.Pro183=) c.2069C= (p.Pro690=) n.306C= c.2198C= (p.Pro733=) c.2128+5774C= (n.2128+5774C=) n.2406C= n.2614C= c.1823C= (p.Pro608=) c.848C= (p.Pro283=) c.1562C= (p.Pro521=) n.2358C= n.2566C= | |
| 1 | g.197427730C>G | CA344037177 | CRB1 | c.2405C>G (p.Pro802Arg) c.1286C>G (p.Pro429Arg) c.548C>G (p.Pro183Arg) c.2069C>G (p.Pro690Arg) n.306C>G c.2198C>G (p.Pro733Arg) c.2128+5774C>G (n.2128+5774C>G) n.2406C>G n.2614C>G c.1823C>G (p.Pro608Arg) c.848C>G (p.Pro283Arg) c.1562C>G (p.Pro521Arg) n.2358C>G n.2566C>G | |
| 1 | g.197427730C>T | CA344037179 | CRB1 | c.2405C>T (p.Pro802Leu) c.1286C>T (p.Pro429Leu) c.548C>T (p.Pro183Leu) c.2069C>T (p.Pro690Leu) n.306C>T c.2198C>T (p.Pro733Leu) c.2128+5774C>T (n.2128+5774C>T) n.2406C>T n.2614C>T c.1823C>T (p.Pro608Leu) c.848C>T (p.Pro283Leu) c.1562C>T (p.Pro521Leu) n.2358C>T n.2566C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427731A= | CA1141784834 | CRB1 | c.2406A= (p.Pro802=) c.1287A= (p.Pro429=) c.549A= (p.Pro183=) c.2070A= (p.Pro690=) n.307A= c.2199A= (p.Pro733=) c.2128+5775A= (n.2128+5775A=) n.2407A= n.2615A= c.1824A= (p.Pro608=) c.849A= (p.Pro283=) c.1563A= (p.Pro521=) n.2359A= n.2567A= | |
| 1 | g.197427731A>C | CA422808719 | CRB1 | c.2406A>C (p.Pro802=) c.1287A>C (p.Pro429=) c.549A>C (p.Pro183=) c.2070A>C (p.Pro690=) n.307A>C c.2199A>C (p.Pro733=) c.2128+5775A>C (n.2128+5775A>C) n.2407A>C n.2615A>C c.1824A>C (p.Pro608=) c.849A>C (p.Pro283=) c.1563A>C (p.Pro521=) n.2359A>C n.2567A>C | ClinVar dbSNP |
| 1 | g.197427731A>G | CA422808720 | CRB1 | c.2406A>G (p.Pro802=) c.1287A>G (p.Pro429=) c.549A>G (p.Pro183=) c.2070A>G (p.Pro690=) n.307A>G c.2199A>G (p.Pro733=) c.2128+5775A>G (n.2128+5775A>G) n.2407A>G n.2615A>G c.1824A>G (p.Pro608=) c.849A>G (p.Pro283=) c.1563A>G (p.Pro521=) n.2359A>G n.2567A>G | ClinVar gnomAD v4 |
| 1 | g.197427731A>T | CA35900825 | CRB1 | c.2406A>T (p.Pro802=) c.1287A>T (p.Pro429=) c.549A>T (p.Pro183=) c.2070A>T (p.Pro690=) n.307A>T c.2199A>T (p.Pro733=) c.2128+5775A>T (n.2128+5775A>T) n.2407A>T n.2615A>T c.1824A>T (p.Pro608=) c.849A>T (p.Pro283=) c.1563A>T (p.Pro521=) n.2359A>T n.2567A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197427732T>A | CA344037184 | CRB1 | c.2407T>A (p.Tyr803Asn) c.1288T>A (p.Tyr430Asn) c.550T>A (p.Tyr184Asn) c.2071T>A (p.Tyr691Asn) n.308T>A c.2200T>A (p.Tyr734Asn) c.2128+5776T>A (n.2128+5776T>A) n.2408T>A n.2616T>A c.1825T>A (p.Tyr609Asn) c.850T>A (p.Tyr284Asn) c.1564T>A (p.Tyr522Asn) n.2360T>A n.2568T>A | dbSNP |
| 1 | g.197427732T>C | CA344037186 | CRB1 | c.2407T>C (p.Tyr803His) c.1288T>C (p.Tyr430His) c.550T>C (p.Tyr184His) c.2071T>C (p.Tyr691His) n.308T>C c.2200T>C (p.Tyr734His) c.2128+5776T>C (n.2128+5776T>C) n.2408T>C n.2616T>C c.1825T>C (p.Tyr609His) c.850T>C (p.Tyr284His) c.1564T>C (p.Tyr522His) n.2360T>C n.2568T>C | |
| 1 | g.197427732T>G | CA344037188 | CRB1 | c.2407T>G (p.Tyr803Asp) c.1288T>G (p.Tyr430Asp) c.550T>G (p.Tyr184Asp) c.2071T>G (p.Tyr691Asp) n.308T>G c.2200T>G (p.Tyr734Asp) c.2128+5776T>G (n.2128+5776T>G) n.2408T>G n.2616T>G c.1825T>G (p.Tyr609Asp) c.850T>G (p.Tyr284Asp) c.1564T>G (p.Tyr522Asp) n.2360T>G n.2568T>G | |
| 1 | g.197427733A= | CA1218066220 | CRB1 | c.2408A= (p.Tyr803=) c.1289A= (p.Tyr430=) c.551A= (p.Tyr184=) c.2072A= (p.Tyr691=) n.309A= c.2201A= (p.Tyr734=) c.2128+5777A= (n.2128+5777A=) n.2409A= n.2617A= c.1826A= (p.Tyr609=) c.851A= (p.Tyr284=) c.1565A= (p.Tyr522=) n.2361A= n.2569A= | |
| 1 | g.197427733A>C | CA344037194 | CRB1 | c.2408A>C (p.Tyr803Ser) c.1289A>C (p.Tyr430Ser) c.551A>C (p.Tyr184Ser) c.2072A>C (p.Tyr691Ser) n.309A>C c.2201A>C (p.Tyr734Ser) c.2128+5777A>C (n.2128+5777A>C) n.2409A>C n.2617A>C c.1826A>C (p.Tyr609Ser) c.851A>C (p.Tyr284Ser) c.1565A>C (p.Tyr522Ser) n.2361A>C n.2569A>C | |
| 1 | g.197427733A>G | CA1312118 | CRB1 | c.2408A>G (p.Tyr803Cys) c.1289A>G (p.Tyr430Cys) c.551A>G (p.Tyr184Cys) c.2072A>G (p.Tyr691Cys) n.309A>G c.2201A>G (p.Tyr734Cys) c.2128+5777A>G (n.2128+5777A>G) n.2409A>G n.2617A>G c.1826A>G (p.Tyr609Cys) c.851A>G (p.Tyr284Cys) c.1565A>G (p.Tyr522Cys) n.2361A>G n.2569A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427733A>T | CA344037192 | CRB1 | c.2408A>T (p.Tyr803Phe) c.1289A>T (p.Tyr430Phe) c.551A>T (p.Tyr184Phe) c.2072A>T (p.Tyr691Phe) n.309A>T c.2201A>T (p.Tyr734Phe) c.2128+5777A>T (n.2128+5777A>T) n.2409A>T n.2617A>T c.1826A>T (p.Tyr609Phe) c.851A>T (p.Tyr284Phe) c.1565A>T (p.Tyr522Phe) n.2361A>T n.2569A>T | |
| 1 | g.197427734T>A | CA344037196 | CRB1 | c.2409T>A (p.Tyr803Ter) c.1290T>A (p.Tyr430Ter) c.552T>A (p.Tyr184Ter) c.2073T>A (p.Tyr691Ter) n.310T>A c.2202T>A (p.Tyr734Ter) c.2128+5778T>A (n.2128+5778T>A) n.2410T>A n.2618T>A c.1827T>A (p.Tyr609Ter) c.852T>A (p.Tyr284Ter) c.1566T>A (p.Tyr522Ter) n.2362T>A n.2570T>A | |
| 1 | g.197427734T>C | CA422808721 | CRB1 | c.2409T>C (p.Tyr803=) c.1290T>C (p.Tyr430=) c.552T>C (p.Tyr184=) c.2073T>C (p.Tyr691=) n.310T>C c.2202T>C (p.Tyr734=) c.2128+5778T>C (n.2128+5778T>C) n.2410T>C n.2618T>C c.1827T>C (p.Tyr609=) c.852T>C (p.Tyr284=) c.1566T>C (p.Tyr522=) n.2362T>C n.2570T>C | |
| 1 | g.197427734T>G | CA344037198 | CRB1 | c.2409T>G (p.Tyr803Ter) c.1290T>G (p.Tyr430Ter) c.552T>G (p.Tyr184Ter) c.2073T>G (p.Tyr691Ter) n.310T>G c.2202T>G (p.Tyr734Ter) c.2128+5778T>G (n.2128+5778T>G) n.2410T>G n.2618T>G c.1827T>G (p.Tyr609Ter) c.852T>G (p.Tyr284Ter) c.1566T>G (p.Tyr522Ter) n.2362T>G n.2570T>G | |
| 1 | g.197427735A>C | CA344037200 | CRB1 | c.2410A>C (p.Lys804Gln) c.1291A>C (p.Lys431Gln) c.553A>C (p.Lys185Gln) c.2074A>C (p.Lys692Gln) n.311A>C c.2203A>C (p.Lys735Gln) c.2128+5779A>C (n.2128+5779A>C) n.2411A>C n.2619A>C c.1828A>C (p.Lys610Gln) c.853A>C (p.Lys285Gln) c.1567A>C (p.Lys523Gln) n.2363A>C n.2571A>C | |
| 1 | g.197427735A>G | CA344037202 | CRB1 | c.2410A>G (p.Lys804Glu) c.1291A>G (p.Lys431Glu) c.553A>G (p.Lys185Glu) c.2074A>G (p.Lys692Glu) n.311A>G c.2203A>G (p.Lys735Glu) c.2128+5779A>G (n.2128+5779A>G) n.2411A>G n.2619A>G c.1828A>G (p.Lys610Glu) c.853A>G (p.Lys285Glu) c.1567A>G (p.Lys523Glu) n.2363A>G n.2571A>G | |
| 1 | g.197427735A>T | CA344037203 | CRB1 | c.2410A>T (p.Lys804Ter) c.1291A>T (p.Lys431Ter) c.553A>T (p.Lys185Ter) c.2074A>T (p.Lys692Ter) n.311A>T c.2203A>T (p.Lys735Ter) c.2128+5779A>T (n.2128+5779A>T) n.2411A>T n.2619A>T c.1828A>T (p.Lys610Ter) c.853A>T (p.Lys285Ter) c.1567A>T (p.Lys523Ter) n.2363A>T n.2571A>T | |
| 1 | g.197427738del | CA2586964522 | CRB1 | c.2413del (p.Ile805LeufsTer10) c.1294del (p.Ile432LeufsTer10) c.556del (p.Ile186LeufsTer10) c.2077del (p.Ile693LeufsTer10) n.314del c.2206del (p.Ile736LeufsTer10) c.2128+5782del (n.2128+5782del) n.2414del n.2622del c.1831del (p.Ile611LeufsTer10) c.856del (p.Ile286LeufsTer10) c.1570del (p.Ile524LeufsTer10) n.2366del n.2574del | |
| 1 | g.197427736A>C | CA344037206 | CRB1 | c.2411A>C (p.Lys804Thr) c.1292A>C (p.Lys431Thr) c.554A>C (p.Lys185Thr) c.2075A>C (p.Lys692Thr) n.312A>C c.2204A>C (p.Lys735Thr) c.2128+5780A>C (n.2128+5780A>C) n.2412A>C n.2620A>C c.1829A>C (p.Lys610Thr) c.854A>C (p.Lys285Thr) c.1568A>C (p.Lys523Thr) n.2364A>C n.2572A>C | |
| 1 | g.197427736A>G | CA344037210 | CRB1 | c.2411A>G (p.Lys804Arg) c.1292A>G (p.Lys431Arg) c.554A>G (p.Lys185Arg) c.2075A>G (p.Lys692Arg) n.312A>G c.2204A>G (p.Lys735Arg) c.2128+5780A>G (n.2128+5780A>G) n.2412A>G n.2620A>G c.1829A>G (p.Lys610Arg) c.854A>G (p.Lys285Arg) c.1568A>G (p.Lys523Arg) n.2364A>G n.2572A>G | |
| 1 | g.197427736A>T | CA344037208 | CRB1 | c.2411A>T (p.Lys804Ile) c.1292A>T (p.Lys431Ile) c.554A>T (p.Lys185Ile) c.2075A>T (p.Lys692Ile) n.312A>T c.2204A>T (p.Lys735Ile) c.2128+5780A>T (n.2128+5780A>T) n.2412A>T n.2620A>T c.1829A>T (p.Lys610Ile) c.854A>T (p.Lys285Ile) c.1568A>T (p.Lys523Ile) n.2364A>T n.2572A>T | |
| 1 | g.197427737A>C | CA344037213 | CRB1 | c.2412A>C (p.Lys804Asn) c.1293A>C (p.Lys431Asn) c.555A>C (p.Lys185Asn) c.2076A>C (p.Lys692Asn) n.313A>C c.2205A>C (p.Lys735Asn) c.2128+5781A>C (n.2128+5781A>C) n.2413A>C n.2621A>C c.1830A>C (p.Lys610Asn) c.855A>C (p.Lys285Asn) c.1569A>C (p.Lys523Asn) n.2365A>C n.2573A>C | |
| 1 | g.197427737A>G | CA422808723 | CRB1 | c.2412A>G (p.Lys804=) c.1293A>G (p.Lys431=) c.555A>G (p.Lys185=) c.2076A>G (p.Lys692=) n.313A>G c.2205A>G (p.Lys735=) c.2128+5781A>G (n.2128+5781A>G) n.2413A>G n.2621A>G c.1830A>G (p.Lys610=) c.855A>G (p.Lys285=) c.1569A>G (p.Lys523=) n.2365A>G n.2573A>G | |
| 1 | g.197427737A>T | CA344037215 | CRB1 | c.2412A>T (p.Lys804Asn) c.1293A>T (p.Lys431Asn) c.555A>T (p.Lys185Asn) c.2076A>T (p.Lys692Asn) n.313A>T c.2205A>T (p.Lys735Asn) c.2128+5781A>T (n.2128+5781A>T) n.2413A>T n.2621A>T c.1830A>T (p.Lys610Asn) c.855A>T (p.Lys285Asn) c.1569A>T (p.Lys523Asn) n.2365A>T n.2573A>T | |
| 1 | g.197427738A= | CA1218066221 | CRB1 | c.2413A= (p.Ile805=) c.1294A= (p.Ile432=) c.556A= (p.Ile186=) c.2077A= (p.Ile693=) n.314A= c.2206A= (p.Ile736=) c.2128+5782A= (n.2128+5782A=) n.2414A= n.2622A= c.1831A= (p.Ile611=) c.856A= (p.Ile286=) c.1570A= (p.Ile524=) n.2366A= n.2574A= | |
| 1 | g.197427738A>C | CA344037217 | CRB1 | c.2413A>C (p.Ile805Leu) c.1294A>C (p.Ile432Leu) c.556A>C (p.Ile186Leu) c.2077A>C (p.Ile693Leu) n.314A>C c.2206A>C (p.Ile736Leu) c.2128+5782A>C (n.2128+5782A>C) n.2414A>C n.2622A>C c.1831A>C (p.Ile611Leu) c.856A>C (p.Ile286Leu) c.1570A>C (p.Ile524Leu) n.2366A>C n.2574A>C | gnomAD v4 |
| 1 | g.197427738A>G | CA1312119 | CRB1 | c.2413A>G (p.Ile805Val) c.1294A>G (p.Ile432Val) c.556A>G (p.Ile186Val) c.2077A>G (p.Ile693Val) n.314A>G c.2206A>G (p.Ile736Val) c.2128+5782A>G (n.2128+5782A>G) n.2414A>G n.2622A>G c.1831A>G (p.Ile611Val) c.856A>G (p.Ile286Val) c.1570A>G (p.Ile524Val) n.2366A>G n.2574A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.197427738A>T | CA344037220 | CRB1 | c.2413A>T (p.Ile805Phe) c.1294A>T (p.Ile432Phe) c.556A>T (p.Ile186Phe) c.2077A>T (p.Ile693Phe) n.314A>T c.2206A>T (p.Ile736Phe) c.2128+5782A>T (n.2128+5782A>T) n.2414A>T n.2622A>T c.1831A>T (p.Ile611Phe) c.856A>T (p.Ile286Phe) c.1570A>T (p.Ile524Phe) n.2366A>T n.2574A>T | |
| 1 | g.197427739T>A | CA344037223 | CRB1 | c.2414T>A (p.Ile805Asn) c.1295T>A (p.Ile432Asn) c.557T>A (p.Ile186Asn) c.2078T>A (p.Ile693Asn) n.315T>A c.2207T>A (p.Ile736Asn) c.2128+5783T>A (n.2128+5783T>A) n.2415T>A n.2623T>A c.1832T>A (p.Ile611Asn) c.857T>A (p.Ile286Asn) c.1571T>A (p.Ile524Asn) n.2367T>A n.2575T>A | |
| 1 | g.197427739T>C | CA35900834 | CRB1 | c.2414T>C (p.Ile805Thr) c.1295T>C (p.Ile432Thr) c.557T>C (p.Ile186Thr) c.2078T>C (p.Ile693Thr) n.315T>C c.2207T>C (p.Ile736Thr) c.2128+5783T>C (n.2128+5783T>C) n.2415T>C n.2623T>C c.1832T>C (p.Ile611Thr) c.857T>C (p.Ile286Thr) c.1571T>C (p.Ile524Thr) n.2367T>C n.2575T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427739T>G | CA344037225 | CRB1 | c.2414T>G (p.Ile805Ser) c.1295T>G (p.Ile432Ser) c.557T>G (p.Ile186Ser) c.2078T>G (p.Ile693Ser) n.315T>G c.2207T>G (p.Ile736Ser) c.2128+5783T>G (n.2128+5783T>G) n.2415T>G n.2623T>G c.1832T>G (p.Ile611Ser) c.857T>G (p.Ile286Ser) c.1571T>G (p.Ile524Ser) n.2367T>G n.2575T>G |