Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197427725C>A | CA422808714 | CRB1 | c.2400C>A (p.Ile800=) c.1281C>A (p.Ile427=) c.543C>A (p.Ile181=) c.2064C>A (p.Ile688=) n.301C>A c.2193C>A (p.Ile731=) c.2128+5769C>A (n.2128+5769C>A) n.2401C>A n.2609C>A c.1818C>A (p.Ile606=) c.843C>A (p.Ile281=) c.1557C>A (p.Ile519=) n.2353C>A n.2561C>A | |
1 | g.197427725C>G | CA344037150 | CRB1 | c.2400C>G (p.Ile800Met) c.1281C>G (p.Ile427Met) c.543C>G (p.Ile181Met) c.2064C>G (p.Ile688Met) n.301C>G c.2193C>G (p.Ile731Met) c.2128+5769C>G (n.2128+5769C>G) n.2401C>G n.2609C>G c.1818C>G (p.Ile606Met) c.843C>G (p.Ile281Met) c.1557C>G (p.Ile519Met) n.2353C>G n.2561C>G | |
1 | g.197427725C>T | CA422808715 | CRB1 | c.2400C>T (p.Ile800=) c.1281C>T (p.Ile427=) c.543C>T (p.Ile181=) c.2064C>T (p.Ile688=) n.301C>T c.2193C>T (p.Ile731=) c.2128+5769C>T (n.2128+5769C>T) n.2401C>T n.2609C>T c.1818C>T (p.Ile606=) c.843C>T (p.Ile281=) c.1557C>T (p.Ile519=) n.2353C>T n.2561C>T | gnomAD v4 COSMIC |
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.197427728_197427729insTGGA | CA2830534963 | CRB1 | c.2403_2404insTGGA (p.Pro802TrpfsTer4) c.1284_1285insTGGA (p.Pro429TrpfsTer4) c.546_547insTGGA (p.Pro183TrpfsTer4) c.2067_2068insTGGA (p.Pro690TrpfsTer4) n.304_305insTGGA c.2196_2197insTGGA (p.Pro733TrpfsTer4) c.2128+5772_2128+5773insTGGA (n.2128+5772_2128+5773insTGGA) n.2404_2405insTGGA n.2612_2613insTGGA c.1821_1822insTGGA (p.Pro608TrpfsTer4) c.846_847insTGGA (p.Pro283TrpfsTer4) c.1560_1561insTGGA (p.Pro521TrpfsTer4) n.2356_2357insTGGA n.2564_2565insTGGA | |
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.197427733dup | CA2831039341 | CRB1 | c.2408dup (p.Tyr803Ter) c.1289dup (p.Tyr430Ter) c.551dup (p.Tyr184Ter) c.2072dup (p.Tyr691Ter) n.309dup c.2201dup (p.Tyr734Ter) c.2128+5777dup (n.2128+5777dup) n.2409dup n.2617dup c.1826dup (p.Tyr609Ter) c.851dup (p.Tyr284Ter) c.1565dup (p.Tyr522Ter) n.2361dup n.2569dup | |
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 | |
1 | g.197427739T= | CA1141993183 | CRB1 | c.2414T= (p.Ile805=) c.1295T= (p.Ile432=) c.557T= (p.Ile186=) c.2078T= (p.Ile693=) n.315T= c.2207T= (p.Ile736=) c.2128+5783T= (n.2128+5783T=) n.2415T= n.2623T= c.1832T= (p.Ile611=) c.857T= (p.Ile286=) c.1571T= (p.Ile524=) n.2367T= n.2575T= | |
1 | g.197427740T>A | CA422808725 | CRB1 | c.2415T>A (p.Ile805=) c.1296T>A (p.Ile432=) c.558T>A (p.Ile186=) c.2079T>A (p.Ile693=) n.316T>A c.2208T>A (p.Ile736=) c.2128+5784T>A (n.2128+5784T>A) n.2416T>A n.2624T>A c.1833T>A (p.Ile611=) c.858T>A (p.Ile286=) c.1572T>A (p.Ile524=) n.2368T>A n.2576T>A | |
1 | g.197427740T>C | CA422808724 | CRB1 | c.2415T>C (p.Ile805=) c.1296T>C (p.Ile432=) c.558T>C (p.Ile186=) c.2079T>C (p.Ile693=) n.316T>C c.2208T>C (p.Ile736=) c.2128+5784T>C (n.2128+5784T>C) n.2416T>C n.2624T>C c.1833T>C (p.Ile611=) c.858T>C (p.Ile286=) c.1572T>C (p.Ile524=) n.2368T>C n.2576T>C | |
1 | g.197427740T>G | CA344037228 | CRB1 | c.2415T>G (p.Ile805Met) c.1296T>G (p.Ile432Met) c.558T>G (p.Ile186Met) c.2079T>G (p.Ile693Met) n.316T>G c.2208T>G (p.Ile736Met) c.2128+5784T>G (n.2128+5784T>G) n.2416T>G n.2624T>G c.1833T>G (p.Ile611Met) c.858T>G (p.Ile286Met) c.1572T>G (p.Ile524Met) n.2368T>G n.2576T>G | |
1 | g.197427741G>A | CA344037231 | CRB1 | c.2416G>A (p.Glu806Lys) c.1297G>A (p.Glu433Lys) c.559G>A (p.Glu187Lys) c.2080G>A (p.Glu694Lys) n.317G>A c.2209G>A (p.Glu737Lys) c.2128+5785G>A (n.2128+5785G>A) n.2417G>A n.2625G>A c.1834G>A (p.Glu612Lys) c.859G>A (p.Glu287Lys) c.1573G>A (p.Glu525Lys) n.2369G>A n.2577G>A | COSMIC COSMIC |
1 | g.197427741G>C | CA1312120 | CRB1 | c.2416G>C (p.Glu806Gln) c.1297G>C (p.Glu433Gln) c.559G>C (p.Glu187Gln) c.2080G>C (p.Glu694Gln) n.317G>C c.2209G>C (p.Glu737Gln) c.2128+5785G>C (n.2128+5785G>C) n.2417G>C n.2625G>C c.1834G>C (p.Glu612Gln) c.859G>C (p.Glu287Gln) c.1573G>C (p.Glu525Gln) n.2369G>C n.2577G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427741G= | CA1218066228 | CRB1 | c.2416G= (p.Glu806=) c.1297G= (p.Glu433=) c.559G= (p.Glu187=) c.2080G= (p.Glu694=) n.317G= c.2209G= (p.Glu737=) c.2128+5785G= (n.2128+5785G=) n.2417G= n.2625G= c.1834G= (p.Glu612=) c.859G= (p.Glu287=) c.1573G= (p.Glu525=) n.2369G= n.2577G= | |
1 | g.197427741G>T | CA344037234 | CRB1 | c.2416G>T (p.Glu806Ter) c.1297G>T (p.Glu433Ter) c.559G>T (p.Glu187Ter) c.2080G>T (p.Glu694Ter) n.317G>T c.2209G>T (p.Glu737Ter) c.2128+5785G>T (n.2128+5785G>T) n.2417G>T n.2625G>T c.1834G>T (p.Glu612Ter) c.859G>T (p.Glu287Ter) c.1573G>T (p.Glu525Ter) n.2369G>T n.2577G>T | ClinVar dbSNP |
1 | g.197427742A>C | CA344037236 | CRB1 | c.2417A>C (p.Glu806Ala) c.1298A>C (p.Glu433Ala) c.560A>C (p.Glu187Ala) c.2081A>C (p.Glu694Ala) n.318A>C c.2210A>C (p.Glu737Ala) c.2128+5786A>C (n.2128+5786A>C) n.2418A>C n.2626A>C c.1835A>C (p.Glu612Ala) c.860A>C (p.Glu287Ala) c.1574A>C (p.Glu525Ala) n.2370A>C n.2578A>C | |
1 | g.197427742A>G | CA344037241 | CRB1 | c.2417A>G (p.Glu806Gly) c.1298A>G (p.Glu433Gly) c.560A>G (p.Glu187Gly) c.2081A>G (p.Glu694Gly) n.318A>G c.2210A>G (p.Glu737Gly) c.2128+5786A>G (n.2128+5786A>G) n.2418A>G n.2626A>G c.1835A>G (p.Glu612Gly) c.860A>G (p.Glu287Gly) c.1574A>G (p.Glu525Gly) n.2370A>G n.2578A>G | |
1 | g.197427742A>T | CA344037239 | CRB1 | c.2417A>T (p.Glu806Val) c.1298A>T (p.Glu433Val) c.560A>T (p.Glu187Val) c.2081A>T (p.Glu694Val) n.318A>T c.2210A>T (p.Glu737Val) c.2128+5786A>T (n.2128+5786A>T) n.2418A>T n.2626A>T c.1835A>T (p.Glu612Val) c.860A>T (p.Glu287Val) c.1574A>T (p.Glu525Val) n.2370A>T n.2578A>T | |
1 | g.197427743A= | CA1218066230 | CRB1 | c.2418A= (p.Glu806=) c.1299A= (p.Glu433=) c.561A= (p.Glu187=) c.2082A= (p.Glu694=) n.319A= c.2211A= (p.Glu737=) c.2128+5787A= (n.2128+5787A=) n.2419A= n.2627A= c.1836A= (p.Glu612=) c.861A= (p.Glu287=) c.1575A= (p.Glu525=) n.2371A= n.2579A= | |
1 | g.197427743A>C | CA344037243 | CRB1 | c.2418A>C (p.Glu806Asp) c.1299A>C (p.Glu433Asp) c.561A>C (p.Glu187Asp) c.2082A>C (p.Glu694Asp) n.319A>C c.2211A>C (p.Glu737Asp) c.2128+5787A>C (n.2128+5787A>C) n.2419A>C n.2627A>C c.1836A>C (p.Glu612Asp) c.861A>C (p.Glu287Asp) c.1575A>C (p.Glu525Asp) n.2371A>C n.2579A>C | dbSNP gnomAD v2 |
1 | g.197427743A>G | CA422808728 | CRB1 | c.2418A>G (p.Glu806=) c.1299A>G (p.Glu433=) c.561A>G (p.Glu187=) c.2082A>G (p.Glu694=) n.319A>G c.2211A>G (p.Glu737=) c.2128+5787A>G (n.2128+5787A>G) n.2419A>G n.2627A>G c.1836A>G (p.Glu612=) c.861A>G (p.Glu287=) c.1575A>G (p.Glu525=) n.2371A>G n.2579A>G | |
1 | g.197427743A>T | CA344037245 | CRB1 | c.2418A>T (p.Glu806Asp) c.1299A>T (p.Glu433Asp) c.561A>T (p.Glu187Asp) c.2082A>T (p.Glu694Asp) n.319A>T c.2211A>T (p.Glu737Asp) c.2128+5787A>T (n.2128+5787A>T) n.2419A>T n.2627A>T c.1836A>T (p.Glu612Asp) c.861A>T (p.Glu287Asp) c.1575A>T (p.Glu525Asp) n.2371A>T n.2579A>T | |
1 | g.197427744C>A | CA344037247 | CRB1 | c.2419C>A (p.Leu807Met) c.1300C>A (p.Leu434Met) c.562C>A (p.Leu188Met) c.2083C>A (p.Leu695Met) n.320C>A c.2212C>A (p.Leu738Met) c.2128+5788C>A (n.2128+5788C>A) n.2420C>A n.2628C>A c.1837C>A (p.Leu613Met) c.862C>A (p.Leu288Met) c.1576C>A (p.Leu526Met) n.2372C>A n.2580C>A | |
1 | g.197427744C= | CA1143772734 | CRB1 | c.2419C= (p.Leu807=) c.1300C= (p.Leu434=) c.562C= (p.Leu188=) c.2083C= (p.Leu695=) n.320C= c.2212C= (p.Leu738=) c.2128+5788C= (n.2128+5788C=) n.2420C= n.2628C= c.1837C= (p.Leu613=) c.862C= (p.Leu288=) c.1576C= (p.Leu526=) n.2372C= n.2580C= | |
1 | g.197427744C>G | CA344037249 | CRB1 | c.2419C>G (p.Leu807Val) c.1300C>G (p.Leu434Val) c.562C>G (p.Leu188Val) c.2083C>G (p.Leu695Val) n.320C>G c.2212C>G (p.Leu738Val) c.2128+5788C>G (n.2128+5788C>G) n.2420C>G n.2628C>G c.1837C>G (p.Leu613Val) c.862C>G (p.Leu288Val) c.1576C>G (p.Leu526Val) n.2372C>G n.2580C>G | |
1 | g.197427744C>T | CA1312121 | CRB1 | c.2419C>T (p.Leu807=) c.1300C>T (p.Leu434=) c.562C>T (p.Leu188=) c.2083C>T (p.Leu695=) n.320C>T c.2212C>T (p.Leu738=) c.2128+5788C>T (n.2128+5788C>T) n.2420C>T n.2628C>T c.1837C>T (p.Leu613=) c.862C>T (p.Leu288=) c.1576C>T (p.Leu526=) n.2372C>T n.2580C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427745T>A | CA344037252 | CRB1 | c.2420T>A (p.Leu807Gln) c.1301T>A (p.Leu434Gln) c.563T>A (p.Leu188Gln) c.2084T>A (p.Leu695Gln) n.321T>A c.2213T>A (p.Leu738Gln) c.2128+5789T>A (n.2128+5789T>A) n.2421T>A n.2629T>A c.1838T>A (p.Leu613Gln) c.863T>A (p.Leu288Gln) c.1577T>A (p.Leu526Gln) n.2373T>A n.2581T>A | |
1 | g.197427745T>C | CA344037254 | CRB1 | c.2420T>C (p.Leu807Pro) c.1301T>C (p.Leu434Pro) c.563T>C (p.Leu188Pro) c.2084T>C (p.Leu695Pro) n.321T>C c.2213T>C (p.Leu738Pro) c.2128+5789T>C (n.2128+5789T>C) n.2421T>C n.2629T>C c.1838T>C (p.Leu613Pro) c.863T>C (p.Leu288Pro) c.1577T>C (p.Leu526Pro) n.2373T>C n.2581T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427745T>G | CA344037255 | CRB1 | c.2420T>G (p.Leu807Arg) c.1301T>G (p.Leu434Arg) c.563T>G (p.Leu188Arg) c.2084T>G (p.Leu695Arg) n.321T>G c.2213T>G (p.Leu738Arg) c.2128+5789T>G (n.2128+5789T>G) n.2421T>G n.2629T>G c.1838T>G (p.Leu613Arg) c.863T>G (p.Leu288Arg) c.1577T>G (p.Leu526Arg) n.2373T>G n.2581T>G | ClinVar |
1 | g.197427745T= | CA1218066235 | CRB1 | c.2420T= (p.Leu807=) c.1301T= (p.Leu434=) c.563T= (p.Leu188=) c.2084T= (p.Leu695=) n.321T= c.2213T= (p.Leu738=) c.2128+5789T= (n.2128+5789T=) n.2421T= n.2629T= c.1838T= (p.Leu613=) c.863T= (p.Leu288=) c.1577T= (p.Leu526=) n.2373T= n.2581T= | |
1 | g.197427745_197427746insACTAATTTGGGAGAGTTTG | CA2571443668 | CRB1 | c.2420_2421insACTAATTTGGGAGAGTTTG (p.Tyr808LeufsTer36) c.1301_1302insACTAATTTGGGAGAGTTTG (p.Tyr435LeufsTer36) c.563_564insACTAATTTGGGAGAGTTTG (p.Tyr189LeufsTer36) c.2084_2085insACTAATTTGGGAGAGTTTG (p.Tyr696LeufsTer36) n.321_322insACTAATTTGGGAGAGTTTG c.2213_2214insACTAATTTGGGAGAGTTTG (p.Tyr739LeufsTer36) c.2128+5789_2128+5790insACTAATTTGGGAGAGTTTG (n.2128+5789_2128+5790insACTAATTTGGGAGAGTTTG) n.2421_2422insACTAATTTGGGAGAGTTTG n.2629_2630insACTAATTTGGGAGAGTTTG c.1838_1839insACTAATTTGGGAGAGTTTG (p.Tyr614LeufsTer36) c.863_864insACTAATTTGGGAGAGTTTG (p.Tyr289LeufsTer36) c.1577_1578insACTAATTTGGGAGAGTTTG (p.Tyr527LeufsTer36) n.2373_2374insACTAATTTGGGAGAGTTTG n.2581_2582insACTAATTTGGGAGAGTTTG | |
1 | g.197427746G>A | CA422808729 | CRB1 | c.2421G>A (p.Leu807=) c.1302G>A (p.Leu434=) c.564G>A (p.Leu188=) c.2085G>A (p.Leu695=) n.322G>A c.2214G>A (p.Leu738=) c.2128+5790G>A (n.2128+5790G>A) n.2422G>A n.2630G>A c.1839G>A (p.Leu613=) c.864G>A (p.Leu288=) c.1578G>A (p.Leu526=) n.2374G>A n.2582G>A | |
1 | g.197427746G>C | CA422808731 | CRB1 | c.2421G>C (p.Leu807=) c.1302G>C (p.Leu434=) c.564G>C (p.Leu188=) c.2085G>C (p.Leu695=) n.322G>C c.2214G>C (p.Leu738=) c.2128+5790G>C (n.2128+5790G>C) n.2422G>C n.2630G>C c.1839G>C (p.Leu613=) c.864G>C (p.Leu288=) c.1578G>C (p.Leu526=) n.2374G>C n.2582G>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427746G>T | CA422808732 | CRB1 | c.2421G>T (p.Leu807=) c.1302G>T (p.Leu434=) c.564G>T (p.Leu188=) c.2085G>T (p.Leu695=) n.322G>T c.2214G>T (p.Leu738=) c.2128+5790G>T (n.2128+5790G>T) n.2422G>T n.2630G>T c.1839G>T (p.Leu613=) c.864G>T (p.Leu288=) c.1578G>T (p.Leu526=) n.2374G>T n.2582G>T | |
1 | g.197427747T>A | CA344037258 | CRB1 | c.2422T>A (p.Tyr808Asn) c.1303T>A (p.Tyr435Asn) c.565T>A (p.Tyr189Asn) c.2086T>A (p.Tyr696Asn) n.323T>A c.2215T>A (p.Tyr739Asn) c.2128+5791T>A (n.2128+5791T>A) n.2423T>A n.2631T>A c.1840T>A (p.Tyr614Asn) c.865T>A (p.Tyr289Asn) c.1579T>A (p.Tyr527Asn) n.2375T>A n.2583T>A | |
1 | g.197427747T>C | CA344037259 | CRB1 | c.2422T>C (p.Tyr808His) c.1303T>C (p.Tyr435His) c.565T>C (p.Tyr189His) c.2086T>C (p.Tyr696His) n.323T>C c.2215T>C (p.Tyr739His) c.2128+5791T>C (n.2128+5791T>C) n.2423T>C n.2631T>C c.1840T>C (p.Tyr614His) c.865T>C (p.Tyr289His) c.1579T>C (p.Tyr527His) n.2375T>C n.2583T>C | gnomAD v4 |
1 | g.197427747T>G | CA344037261 | CRB1 | c.2422T>G (p.Tyr808Asp) c.1303T>G (p.Tyr435Asp) c.565T>G (p.Tyr189Asp) c.2086T>G (p.Tyr696Asp) n.323T>G c.2215T>G (p.Tyr739Asp) c.2128+5791T>G (n.2128+5791T>G) n.2423T>G n.2631T>G c.1840T>G (p.Tyr614Asp) c.865T>G (p.Tyr289Asp) c.1579T>G (p.Tyr527Asp) n.2375T>G n.2583T>G | gnomAD v4 |
1 | g.197427748A= | CA1218066242 | CRB1 | c.2423A= (p.Tyr808=) c.1304A= (p.Tyr435=) c.566A= (p.Tyr189=) c.2087A= (p.Tyr696=) n.324A= c.2216A= (p.Tyr739=) c.2128+5792A= (n.2128+5792A=) n.2424A= n.2632A= c.1841A= (p.Tyr614=) c.866A= (p.Tyr289=) c.1580A= (p.Tyr527=) n.2376A= n.2584A= | |
1 | g.197427748A>C | CA344037267 | CRB1 | c.2423A>C (p.Tyr808Ser) c.1304A>C (p.Tyr435Ser) c.566A>C (p.Tyr189Ser) c.2087A>C (p.Tyr696Ser) n.324A>C c.2216A>C (p.Tyr739Ser) c.2128+5792A>C (n.2128+5792A>C) n.2424A>C n.2632A>C c.1841A>C (p.Tyr614Ser) c.866A>C (p.Tyr289Ser) c.1580A>C (p.Tyr527Ser) n.2376A>C n.2584A>C | |
1 | g.197427748A>G | CA35900848 | CRB1 | c.2423A>G (p.Tyr808Cys) c.1304A>G (p.Tyr435Cys) c.566A>G (p.Tyr189Cys) c.2087A>G (p.Tyr696Cys) n.324A>G c.2216A>G (p.Tyr739Cys) c.2128+5792A>G (n.2128+5792A>G) n.2424A>G n.2632A>G c.1841A>G (p.Tyr614Cys) c.866A>G (p.Tyr289Cys) c.1580A>G (p.Tyr527Cys) n.2376A>G n.2584A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427748A>T | CA344037264 | CRB1 | c.2423A>T (p.Tyr808Phe) c.1304A>T (p.Tyr435Phe) c.566A>T (p.Tyr189Phe) c.2087A>T (p.Tyr696Phe) n.324A>T c.2216A>T (p.Tyr739Phe) c.2128+5792A>T (n.2128+5792A>T) n.2424A>T n.2632A>T c.1841A>T (p.Tyr614Phe) c.866A>T (p.Tyr289Phe) c.1580A>T (p.Tyr527Phe) n.2376A>T n.2584A>T | dbSNP gnomAD v4 |
1 | g.197427748_197427749insCT | CA2649670118 | CRB1 | c.2423_2424insCT (p.Gln809PhefsTer7) c.1304_1305insCT (p.Gln436PhefsTer7) c.566_567insCT (p.Gln190PhefsTer7) c.2087_2088insCT (p.Gln697PhefsTer7) n.324_325insCT c.2216_2217insCT (p.Gln740PhefsTer7) c.2128+5792_2128+5793insCT (n.2128+5792_2128+5793insCT) n.2424_2425insCT n.2632_2633insCT c.1841_1842insCT (p.Gln615PhefsTer7) c.866_867insCT (p.Gln290PhefsTer7) c.1580_1581insCT (p.Gln528PhefsTer7) n.2376_2377insCT n.2584_2585insCT | gnomAD v4 |
1 | g.197427749T>A | CA344037270 | CRB1 | c.2424T>A (p.Tyr808Ter) c.1305T>A (p.Tyr435Ter) c.567T>A (p.Tyr189Ter) c.2088T>A (p.Tyr696Ter) n.325T>A c.2217T>A (p.Tyr739Ter) c.2128+5793T>A (n.2128+5793T>A) n.2425T>A n.2633T>A c.1842T>A (p.Tyr614Ter) c.867T>A (p.Tyr289Ter) c.1581T>A (p.Tyr527Ter) n.2377T>A n.2585T>A | |
1 | g.197427749T>C | CA422808734 | CRB1 | c.2424T>C (p.Tyr808=) c.1305T>C (p.Tyr435=) c.567T>C (p.Tyr189=) c.2088T>C (p.Tyr696=) n.325T>C c.2217T>C (p.Tyr739=) c.2128+5793T>C (n.2128+5793T>C) n.2425T>C n.2633T>C c.1842T>C (p.Tyr614=) c.867T>C (p.Tyr289=) c.1581T>C (p.Tyr527=) n.2377T>C n.2585T>C | |
1 | g.197427749T>G | CA344037272 | CRB1 | c.2424T>G (p.Tyr808Ter) c.1305T>G (p.Tyr435Ter) c.567T>G (p.Tyr189Ter) c.2088T>G (p.Tyr696Ter) n.325T>G c.2217T>G (p.Tyr739Ter) c.2128+5793T>G (n.2128+5793T>G) n.2425T>G n.2633T>G c.1842T>G (p.Tyr614Ter) c.867T>G (p.Tyr289Ter) c.1581T>G (p.Tyr527Ter) n.2377T>G n.2585T>G | |
1 | g.197427750C>A | CA344037275 | CRB1 | c.2425C>A (p.Gln809Lys) c.1306C>A (p.Gln436Lys) c.568C>A (p.Gln190Lys) c.2089C>A (p.Gln697Lys) n.326C>A c.2218C>A (p.Gln740Lys) c.2128+5794C>A (n.2128+5794C>A) n.2426C>A n.2634C>A c.1843C>A (p.Gln615Lys) c.868C>A (p.Gln290Lys) c.1582C>A (p.Gln528Lys) n.2378C>A n.2586C>A | |
1 | g.197427750C= | CA1218066245 | CRB1 | c.2425C= (p.Gln809=) c.1306C= (p.Gln436=) c.568C= (p.Gln190=) c.2089C= (p.Gln697=) n.326C= c.2218C= (p.Gln740=) c.2128+5794C= (n.2128+5794C=) n.2426C= n.2634C= c.1843C= (p.Gln615=) c.868C= (p.Gln290=) c.1582C= (p.Gln528=) n.2378C= n.2586C= | |
1 | g.197427750C>G | CA344037277 | CRB1 | c.2425C>G (p.Gln809Glu) c.1306C>G (p.Gln436Glu) c.568C>G (p.Gln190Glu) c.2089C>G (p.Gln697Glu) n.326C>G c.2218C>G (p.Gln740Glu) c.2128+5794C>G (n.2128+5794C>G) n.2426C>G n.2634C>G c.1843C>G (p.Gln615Glu) c.868C>G (p.Gln290Glu) c.1582C>G (p.Gln528Glu) n.2378C>G n.2586C>G | |
1 | g.197427750C>T | CA344037279 | CRB1 | c.2425C>T (p.Gln809Ter) c.1306C>T (p.Gln436Ter) c.568C>T (p.Gln190Ter) c.2089C>T (p.Gln697Ter) n.326C>T c.2218C>T (p.Gln740Ter) c.2128+5794C>T (n.2128+5794C>T) n.2426C>T n.2634C>T c.1843C>T (p.Gln615Ter) c.868C>T (p.Gln290Ter) c.1582C>T (p.Gln528Ter) n.2378C>T n.2586C>T | ClinVar dbSNP |
1 | g.197427750_197427751del | CA2649670119 | CRB1 | c.2425_2426del (p.Gln809ValfsTer28) c.1306_1307del (p.Gln436ValfsTer28) c.568_569del (p.Gln190ValfsTer28) c.2089_2090del (p.Gln697ValfsTer28) n.326_327del c.2218_2219del (p.Gln740ValfsTer28) c.2128+5794_2128+5795del (n.2128+5794_2128+5795del) n.2426_2427del n.2634_2635del c.1843_1844del (p.Gln615ValfsTer28) c.868_869del (p.Gln290ValfsTer28) c.1582_1583del (p.Gln528ValfsTer28) n.2378_2379del n.2586_2587del | gnomAD v4 |
1 | g.197427751A= | CA1218066247 | CRB1 | c.2426A= (p.Gln809=) c.1307A= (p.Gln436=) c.569A= (p.Gln190=) c.2090A= (p.Gln697=) n.327A= c.2219A= (p.Gln740=) c.2128+5795A= (n.2128+5795A=) n.2427A= n.2635A= c.1844A= (p.Gln615=) c.869A= (p.Gln290=) c.1583A= (p.Gln528=) n.2379A= n.2587A= | |
1 | g.197427751A>C | CA344037282 | CRB1 | c.2426A>C (p.Gln809Pro) c.1307A>C (p.Gln436Pro) c.569A>C (p.Gln190Pro) c.2090A>C (p.Gln697Pro) n.327A>C c.2219A>C (p.Gln740Pro) c.2128+5795A>C (n.2128+5795A>C) n.2427A>C n.2635A>C c.1844A>C (p.Gln615Pro) c.869A>C (p.Gln290Pro) c.1583A>C (p.Gln528Pro) n.2379A>C n.2587A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427751A>G | CA344037284 | CRB1 | c.2426A>G (p.Gln809Arg) c.1307A>G (p.Gln436Arg) c.569A>G (p.Gln190Arg) c.2090A>G (p.Gln697Arg) n.327A>G c.2219A>G (p.Gln740Arg) c.2128+5795A>G (n.2128+5795A>G) n.2427A>G n.2635A>G c.1844A>G (p.Gln615Arg) c.869A>G (p.Gln290Arg) c.1583A>G (p.Gln528Arg) n.2379A>G n.2587A>G | ClinVar gnomAD v4 |
1 | g.197427751A>T | CA344037286 | CRB1 | c.2426A>T (p.Gln809Leu) c.1307A>T (p.Gln436Leu) c.569A>T (p.Gln190Leu) c.2090A>T (p.Gln697Leu) n.327A>T c.2219A>T (p.Gln740Leu) c.2128+5795A>T (n.2128+5795A>T) n.2427A>T n.2635A>T c.1844A>T (p.Gln615Leu) c.869A>T (p.Gln290Leu) c.1583A>T (p.Gln528Leu) n.2379A>T n.2587A>T | |
1 | g.197427752G>A | CA422808735 | CRB1 | c.2427G>A (p.Gln809=) c.1308G>A (p.Gln436=) c.570G>A (p.Gln190=) c.2091G>A (p.Gln697=) n.328G>A c.2220G>A (p.Gln740=) c.2128+5796G>A (n.2128+5796G>A) n.2428G>A n.2636G>A c.1845G>A (p.Gln615=) c.870G>A (p.Gln290=) c.1584G>A (p.Gln528=) n.2380G>A n.2588G>A | dbSNP |
1 | g.197427752G>C | CA344037289 | CRB1 | c.2427G>C (p.Gln809His) c.1308G>C (p.Gln436His) c.570G>C (p.Gln190His) c.2091G>C (p.Gln697His) n.328G>C c.2220G>C (p.Gln740His) c.2128+5796G>C (n.2128+5796G>C) n.2428G>C n.2636G>C c.1845G>C (p.Gln615His) c.870G>C (p.Gln290His) c.1584G>C (p.Gln528His) n.2380G>C n.2588G>C | |
1 | g.197427752G= | CA1218066249 | CRB1 | c.2427G= (p.Gln809=) c.1308G= (p.Gln436=) c.570G= (p.Gln190=) c.2091G= (p.Gln697=) n.328G= c.2220G= (p.Gln740=) c.2128+5796G= (n.2128+5796G=) n.2428G= n.2636G= c.1845G= (p.Gln615=) c.870G= (p.Gln290=) c.1584G= (p.Gln528=) n.2380G= n.2588G= | |
1 | g.197427752G>T | CA344037291 | CRB1 | c.2427G>T (p.Gln809His) c.1308G>T (p.Gln436His) c.570G>T (p.Gln190His) c.2091G>T (p.Gln697His) n.328G>T c.2220G>T (p.Gln740His) c.2128+5796G>T (n.2128+5796G>T) n.2428G>T n.2636G>T c.1845G>T (p.Gln615His) c.870G>T (p.Gln290His) c.1584G>T (p.Gln528His) n.2380G>T n.2588G>T | dbSNP gnomAD v2 |
1 | g.197427753T>A | CA344037293 | CRB1 | c.2428T>A (p.Ser810Thr) c.1309T>A (p.Ser437Thr) c.571T>A (p.Ser191Thr) c.2092T>A (p.Ser698Thr) n.329T>A c.2221T>A (p.Ser741Thr) c.2128+5797T>A (n.2128+5797T>A) n.2429T>A n.2637T>A c.1846T>A (p.Ser616Thr) c.871T>A (p.Ser291Thr) c.1585T>A (p.Ser529Thr) n.2381T>A n.2589T>A | |
1 | g.197427753T>C | CA344037296 | CRB1 | c.2428T>C (p.Ser810Pro) c.1309T>C (p.Ser437Pro) c.571T>C (p.Ser191Pro) c.2092T>C (p.Ser698Pro) n.329T>C c.2221T>C (p.Ser741Pro) c.2128+5797T>C (n.2128+5797T>C) n.2429T>C n.2637T>C c.1846T>C (p.Ser616Pro) c.871T>C (p.Ser291Pro) c.1585T>C (p.Ser529Pro) n.2381T>C n.2589T>C | |
1 | g.197427753T>G | CA344037298 | CRB1 | c.2428T>G (p.Ser810Ala) c.1309T>G (p.Ser437Ala) c.571T>G (p.Ser191Ala) c.2092T>G (p.Ser698Ala) n.329T>G c.2221T>G (p.Ser741Ala) c.2128+5797T>G (n.2128+5797T>G) n.2429T>G n.2637T>G c.1846T>G (p.Ser616Ala) c.871T>G (p.Ser291Ala) c.1585T>G (p.Ser529Ala) n.2381T>G n.2589T>G | |
1 | g.197427754C>A | CA344037307 | CRB1 | c.2429C>A (p.Ser810Tyr) c.1310C>A (p.Ser437Tyr) c.572C>A (p.Ser191Tyr) c.2093C>A (p.Ser698Tyr) n.330C>A c.2222C>A (p.Ser741Tyr) c.2128+5798C>A (n.2128+5798C>A) n.2430C>A n.2638C>A c.1847C>A (p.Ser616Tyr) c.872C>A (p.Ser291Tyr) c.1586C>A (p.Ser529Tyr) n.2382C>A n.2590C>A | |
1 | g.197427754C>G | CA344037310 | CRB1 | c.2429C>G (p.Ser810Cys) c.1310C>G (p.Ser437Cys) c.572C>G (p.Ser191Cys) c.2093C>G (p.Ser698Cys) n.330C>G c.2222C>G (p.Ser741Cys) c.2128+5798C>G (n.2128+5798C>G) n.2430C>G n.2638C>G c.1847C>G (p.Ser616Cys) c.872C>G (p.Ser291Cys) c.1586C>G (p.Ser529Cys) n.2382C>G n.2590C>G | gnomAD v4 |
1 | g.197427754C>T | CA344037305 | CRB1 | c.2429C>T (p.Ser810Phe) c.1310C>T (p.Ser437Phe) c.572C>T (p.Ser191Phe) c.2093C>T (p.Ser698Phe) n.330C>T c.2222C>T (p.Ser741Phe) c.2128+5798C>T (n.2128+5798C>T) n.2430C>T n.2638C>T c.1847C>T (p.Ser616Phe) c.872C>T (p.Ser291Phe) c.1586C>T (p.Ser529Phe) n.2382C>T n.2590C>T | gnomAD v4 |
1 | g.197427755T>A | CA422808737 | CRB1 | c.2430T>A (p.Ser810=) c.1311T>A (p.Ser437=) c.573T>A (p.Ser191=) c.2094T>A (p.Ser698=) n.331T>A c.2223T>A (p.Ser741=) c.2128+5799T>A (n.2128+5799T>A) n.2431T>A n.2639T>A c.1848T>A (p.Ser616=) c.873T>A (p.Ser291=) c.1587T>A (p.Ser529=) n.2383T>A n.2591T>A | |
1 | g.197427755T>C | CA422808738 | CRB1 | c.2430T>C (p.Ser810=) c.1311T>C (p.Ser437=) c.573T>C (p.Ser191=) c.2094T>C (p.Ser698=) n.331T>C c.2223T>C (p.Ser741=) c.2128+5799T>C (n.2128+5799T>C) n.2431T>C n.2639T>C c.1848T>C (p.Ser616=) c.873T>C (p.Ser291=) c.1587T>C (p.Ser529=) n.2383T>C n.2591T>C | |
1 | g.197427755T>G | CA422808739 | CRB1 | c.2430T>G (p.Ser810=) c.1311T>G (p.Ser437=) c.573T>G (p.Ser191=) c.2094T>G (p.Ser698=) n.331T>G c.2223T>G (p.Ser741=) c.2128+5799T>G (n.2128+5799T>G) n.2431T>G n.2639T>G c.1848T>G (p.Ser616=) c.873T>G (p.Ser291=) c.1587T>G (p.Ser529=) n.2383T>G n.2591T>G | |
1 | g.197427756T>A | CA344037315 | CRB1 | c.2431T>A (p.Ser811Thr) c.1312T>A (p.Ser438Thr) c.574T>A (p.Ser192Thr) c.2095T>A (p.Ser699Thr) n.332T>A c.2224T>A (p.Ser742Thr) c.2128+5800T>A (n.2128+5800T>A) n.2432T>A n.2640T>A c.1849T>A (p.Ser617Thr) c.874T>A (p.Ser292Thr) c.1588T>A (p.Ser530Thr) n.2384T>A n.2592T>A | |
1 | g.197427756T>C | CA344037313 | CRB1 | c.2431T>C (p.Ser811Pro) c.1312T>C (p.Ser438Pro) c.574T>C (p.Ser192Pro) c.2095T>C (p.Ser699Pro) n.332T>C c.2224T>C (p.Ser742Pro) c.2128+5800T>C (n.2128+5800T>C) n.2432T>C n.2640T>C c.1849T>C (p.Ser617Pro) c.874T>C (p.Ser292Pro) c.1588T>C (p.Ser530Pro) n.2384T>C n.2592T>C | gnomAD v4 |
1 | g.197427756T>G | CA344037318 | CRB1 | c.2431T>G (p.Ser811Ala) c.1312T>G (p.Ser438Ala) c.574T>G (p.Ser192Ala) c.2095T>G (p.Ser699Ala) n.332T>G c.2224T>G (p.Ser742Ala) c.2128+5800T>G (n.2128+5800T>G) n.2432T>G n.2640T>G c.1849T>G (p.Ser617Ala) c.874T>G (p.Ser292Ala) c.1588T>G (p.Ser530Ala) n.2384T>G n.2592T>G | |
1 | g.197427757C>A | CA344037320 | CRB1 | c.2432C>A (p.Ser811Ter) c.1313C>A (p.Ser438Ter) c.575C>A (p.Ser192Ter) c.2096C>A (p.Ser699Ter) n.333C>A c.2225C>A (p.Ser742Ter) c.2128+5801C>A (n.2128+5801C>A) n.2433C>A n.2641C>A c.1850C>A (p.Ser617Ter) c.875C>A (p.Ser292Ter) c.1589C>A (p.Ser530Ter) n.2385C>A n.2593C>A | |
1 | g.197427757C>G | CA344037325 | CRB1 | c.2432C>G (p.Ser811Ter) c.1313C>G (p.Ser438Ter) c.575C>G (p.Ser192Ter) c.2096C>G (p.Ser699Ter) n.333C>G c.2225C>G (p.Ser742Ter) c.2128+5801C>G (n.2128+5801C>G) n.2433C>G n.2641C>G c.1850C>G (p.Ser617Ter) c.875C>G (p.Ser292Ter) c.1589C>G (p.Ser530Ter) n.2385C>G n.2593C>G | |
1 | g.197427757C>T | CA344037322 | CRB1 | c.2432C>T (p.Ser811Leu) c.1313C>T (p.Ser438Leu) c.575C>T (p.Ser192Leu) c.2096C>T (p.Ser699Leu) n.333C>T c.2225C>T (p.Ser742Leu) c.2128+5801C>T (n.2128+5801C>T) n.2433C>T n.2641C>T c.1850C>T (p.Ser617Leu) c.875C>T (p.Ser292Leu) c.1589C>T (p.Ser530Leu) n.2385C>T n.2593C>T | |
1 | g.197427758A>C | CA422808740 | CRB1 | c.2433A>C (p.Ser811=) c.1314A>C (p.Ser438=) c.576A>C (p.Ser192=) c.2097A>C (p.Ser699=) n.334A>C c.2226A>C (p.Ser742=) c.2128+5802A>C (n.2128+5802A>C) n.2434A>C n.2642A>C c.1851A>C (p.Ser617=) c.876A>C (p.Ser292=) c.1590A>C (p.Ser530=) n.2386A>C n.2594A>C | |
1 | g.197427758A>G | CA422808741 | CRB1 | c.2433A>G (p.Ser811=) c.1314A>G (p.Ser438=) c.576A>G (p.Ser192=) c.2097A>G (p.Ser699=) n.334A>G c.2226A>G (p.Ser742=) c.2128+5802A>G (n.2128+5802A>G) n.2434A>G n.2642A>G c.1851A>G (p.Ser617=) c.876A>G (p.Ser292=) c.1590A>G (p.Ser530=) n.2386A>G n.2594A>G | ClinVar dbSNP |
1 | g.197427758A>T | CA422808742 | CRB1 | c.2433A>T (p.Ser811=) c.1314A>T (p.Ser438=) c.576A>T (p.Ser192=) c.2097A>T (p.Ser699=) n.334A>T c.2226A>T (p.Ser742=) c.2128+5802A>T (n.2128+5802A>T) n.2434A>T n.2642A>T c.1851A>T (p.Ser617=) c.876A>T (p.Ser292=) c.1590A>T (p.Ser530=) n.2386A>T n.2594A>T | |
1 | g.197427759C>A | CA344037327 | CRB1 | c.2434C>A (p.Gln812Lys) c.1315C>A (p.Gln439Lys) c.577C>A (p.Gln193Lys) c.2098C>A (p.Gln700Lys) n.335C>A c.2227C>A (p.Gln743Lys) c.2128+5803C>A (n.2128+5803C>A) n.2435C>A n.2643C>A c.1852C>A (p.Gln618Lys) c.877C>A (p.Gln293Lys) c.1591C>A (p.Gln531Lys) n.2387C>A n.2595C>A | |
1 | g.197427759C= | CA1218066251 | CRB1 | c.2434C= (p.Gln812=) c.1315C= (p.Gln439=) c.577C= (p.Gln193=) c.2098C= (p.Gln700=) n.335C= c.2227C= (p.Gln743=) c.2128+5803C= (n.2128+5803C=) n.2435C= n.2643C= c.1852C= (p.Gln618=) c.877C= (p.Gln293=) c.1591C= (p.Gln531=) n.2387C= n.2595C= | |
1 | g.197427759C>G | CA344037331 | CRB1 | c.2434C>G (p.Gln812Glu) c.1315C>G (p.Gln439Glu) c.577C>G (p.Gln193Glu) c.2098C>G (p.Gln700Glu) n.335C>G c.2227C>G (p.Gln743Glu) c.2128+5803C>G (n.2128+5803C>G) n.2435C>G n.2643C>G c.1852C>G (p.Gln618Glu) c.877C>G (p.Gln293Glu) c.1591C>G (p.Gln531Glu) n.2387C>G n.2595C>G | |
1 | g.197427759C>T | CA344037329 | CRB1 | c.2434C>T (p.Gln812Ter) c.1315C>T (p.Gln439Ter) c.577C>T (p.Gln193Ter) c.2098C>T (p.Gln700Ter) n.335C>T c.2227C>T (p.Gln743Ter) c.2128+5803C>T (n.2128+5803C>T) n.2435C>T n.2643C>T c.1852C>T (p.Gln618Ter) c.877C>T (p.Gln293Ter) c.1591C>T (p.Gln531Ter) n.2387C>T n.2595C>T | |
1 | g.197427760A= | CA1218066253 | CRB1 | c.2435A= (p.Gln812=) c.1316A= (p.Gln439=) c.578A= (p.Gln193=) c.2099A= (p.Gln700=) n.336A= c.2228A= (p.Gln743=) c.2128+5804A= (n.2128+5804A=) n.2436A= n.2644A= c.1853A= (p.Gln618=) c.878A= (p.Gln293=) c.1592A= (p.Gln531=) n.2388A= n.2596A= | |
1 | g.197427760A>C | CA344037333 | CRB1 | c.2435A>C (p.Gln812Pro) c.1316A>C (p.Gln439Pro) c.578A>C (p.Gln193Pro) c.2099A>C (p.Gln700Pro) n.336A>C c.2228A>C (p.Gln743Pro) c.2128+5804A>C (n.2128+5804A>C) n.2436A>C n.2644A>C c.1853A>C (p.Gln618Pro) c.878A>C (p.Gln293Pro) c.1592A>C (p.Gln531Pro) n.2388A>C n.2596A>C | |
1 | g.197427760A>G | CA35900854 | CRB1 | c.2435A>G (p.Gln812Arg) c.1316A>G (p.Gln439Arg) c.578A>G (p.Gln193Arg) c.2099A>G (p.Gln700Arg) n.336A>G c.2228A>G (p.Gln743Arg) c.2128+5804A>G (n.2128+5804A>G) n.2436A>G n.2644A>G c.1853A>G (p.Gln618Arg) c.878A>G (p.Gln293Arg) c.1592A>G (p.Gln531Arg) n.2388A>G n.2596A>G | dbSNP gnomAD v4 |
1 | g.197427760A>T | CA344037334 | CRB1 | c.2435A>T (p.Gln812Leu) c.1316A>T (p.Gln439Leu) c.578A>T (p.Gln193Leu) c.2099A>T (p.Gln700Leu) n.336A>T c.2228A>T (p.Gln743Leu) c.2128+5804A>T (n.2128+5804A>T) n.2436A>T n.2644A>T c.1853A>T (p.Gln618Leu) c.878A>T (p.Gln293Leu) c.1592A>T (p.Gln531Leu) n.2388A>T n.2596A>T | COSMIC |
1 | g.197427763dup | CA1218066255 | CRB1 | c.2438dup (p.Asn813LysfsTer25) c.1319dup (p.Asn440LysfsTer25) c.581dup (p.Asn194LysfsTer25) c.2102dup (p.Asn701LysfsTer25) n.339dup c.2231dup (p.Asn744LysfsTer25) c.2128+5807dup (n.2128+5807dup) n.2439dup n.2647dup c.1856dup (p.Asn619LysfsTer25) c.881dup (p.Asn294LysfsTer25) c.1595dup (p.Asn532LysfsTer25) n.2391dup n.2599dup | dbSNP |
1 | g.197427761A>C | CA344037336 | CRB1 | c.2436A>C (p.Gln812His) c.1317A>C (p.Gln439His) c.579A>C (p.Gln193His) c.2100A>C (p.Gln700His) n.337A>C c.2229A>C (p.Gln743His) c.2128+5805A>C (n.2128+5805A>C) n.2437A>C n.2645A>C c.1854A>C (p.Gln618His) c.879A>C (p.Gln293His) c.1593A>C (p.Gln531His) n.2389A>C n.2597A>C | gnomAD v4 |
1 | g.197427761A>G | CA422808747 | CRB1 | c.2436A>G (p.Gln812=) c.1317A>G (p.Gln439=) c.579A>G (p.Gln193=) c.2100A>G (p.Gln700=) n.337A>G c.2229A>G (p.Gln743=) c.2128+5805A>G (n.2128+5805A>G) n.2437A>G n.2645A>G c.1854A>G (p.Gln618=) c.879A>G (p.Gln293=) c.1593A>G (p.Gln531=) n.2389A>G n.2597A>G | |
1 | g.197427761A>T | CA344037337 | CRB1 | c.2436A>T (p.Gln812His) c.1317A>T (p.Gln439His) c.579A>T (p.Gln193His) c.2100A>T (p.Gln700His) n.337A>T c.2229A>T (p.Gln743His) c.2128+5805A>T (n.2128+5805A>T) n.2437A>T n.2645A>T c.1854A>T (p.Gln618His) c.879A>T (p.Gln293His) c.1593A>T (p.Gln531His) n.2389A>T n.2597A>T | |
1 | g.197427762A>C | CA344037340 | CRB1 | c.2437A>C (p.Asn813His) c.1318A>C (p.Asn440His) c.580A>C (p.Asn194His) c.2101A>C (p.Asn701His) n.338A>C c.2230A>C (p.Asn744His) c.2128+5806A>C (n.2128+5806A>C) n.2438A>C n.2646A>C c.1855A>C (p.Asn619His) c.880A>C (p.Asn294His) c.1594A>C (p.Asn532His) n.2390A>C n.2598A>C | |
1 | g.197427762A>G | CA344037342 | CRB1 | c.2437A>G (p.Asn813Asp) c.1318A>G (p.Asn440Asp) c.580A>G (p.Asn194Asp) c.2101A>G (p.Asn701Asp) n.338A>G c.2230A>G (p.Asn744Asp) c.2128+5806A>G (n.2128+5806A>G) n.2438A>G n.2646A>G c.1855A>G (p.Asn619Asp) c.880A>G (p.Asn294Asp) c.1594A>G (p.Asn532Asp) n.2390A>G n.2598A>G | |
1 | g.197427762A>T | CA344037344 | CRB1 | c.2437A>T (p.Asn813Tyr) c.1318A>T (p.Asn440Tyr) c.580A>T (p.Asn194Tyr) c.2101A>T (p.Asn701Tyr) n.338A>T c.2230A>T (p.Asn744Tyr) c.2128+5806A>T (n.2128+5806A>T) n.2438A>T n.2646A>T c.1855A>T (p.Asn619Tyr) c.880A>T (p.Asn294Tyr) c.1594A>T (p.Asn532Tyr) n.2390A>T n.2598A>T | |
1 | g.197427763A>C | CA344037348 | CRB1 | c.2438A>C (p.Asn813Thr) c.1319A>C (p.Asn440Thr) c.581A>C (p.Asn194Thr) c.2102A>C (p.Asn701Thr) n.339A>C c.2231A>C (p.Asn744Thr) c.2128+5807A>C (n.2128+5807A>C) n.2439A>C n.2647A>C c.1856A>C (p.Asn619Thr) c.881A>C (p.Asn294Thr) c.1595A>C (p.Asn532Thr) n.2391A>C n.2599A>C | |
1 | g.197427763A>G | CA344037350 | CRB1 | c.2438A>G (p.Asn813Ser) c.1319A>G (p.Asn440Ser) c.581A>G (p.Asn194Ser) c.2102A>G (p.Asn701Ser) n.339A>G c.2231A>G (p.Asn744Ser) c.2128+5807A>G (n.2128+5807A>G) n.2439A>G n.2647A>G c.1856A>G (p.Asn619Ser) c.881A>G (p.Asn294Ser) c.1595A>G (p.Asn532Ser) n.2391A>G n.2599A>G | |
1 | g.197427763A>T | CA344037352 | CRB1 | c.2438A>T (p.Asn813Ile) c.1319A>T (p.Asn440Ile) c.581A>T (p.Asn194Ile) c.2102A>T (p.Asn701Ile) n.339A>T c.2231A>T (p.Asn744Ile) c.2128+5807A>T (n.2128+5807A>T) n.2439A>T n.2647A>T c.1856A>T (p.Asn619Ile) c.881A>T (p.Asn294Ile) c.1595A>T (p.Asn532Ile) n.2391A>T n.2599A>T | |
1 | g.197427764C>A | CA344037356 | CRB1 | c.2439C>A (p.Asn813Lys) c.1320C>A (p.Asn440Lys) c.582C>A (p.Asn194Lys) c.2103C>A (p.Asn701Lys) n.340C>A c.2232C>A (p.Asn744Lys) c.2128+5808C>A (n.2128+5808C>A) n.2440C>A n.2648C>A c.1857C>A (p.Asn619Lys) c.882C>A (p.Asn294Lys) c.1596C>A (p.Asn532Lys) n.2392C>A n.2600C>A | |
1 | g.197427764C>G | CA344037354 | CRB1 | c.2439C>G (p.Asn813Lys) c.1320C>G (p.Asn440Lys) c.582C>G (p.Asn194Lys) c.2103C>G (p.Asn701Lys) n.340C>G c.2232C>G (p.Asn744Lys) c.2128+5808C>G (n.2128+5808C>G) n.2440C>G n.2648C>G c.1857C>G (p.Asn619Lys) c.882C>G (p.Asn294Lys) c.1596C>G (p.Asn532Lys) n.2392C>G n.2600C>G | |
1 | g.197427764C>T | CA422808748 | CRB1 | c.2439C>T (p.Asn813=) c.1320C>T (p.Asn440=) c.582C>T (p.Asn194=) c.2103C>T (p.Asn701=) n.340C>T c.2232C>T (p.Asn744=) c.2128+5808C>T (n.2128+5808C>T) n.2440C>T n.2648C>T c.1857C>T (p.Asn619=) c.882C>T (p.Asn294=) c.1596C>T (p.Asn532=) n.2392C>T n.2600C>T | |
1 | g.197427765del | CA2649670120 | CRB1 | c.2440del (p.Leu814Ter) c.1321del (p.Leu441Ter) c.583del (p.Leu195Ter) c.2104del (p.Leu702Ter) n.341del c.2233del (p.Leu745Ter) c.2128+5809del (n.2128+5809del) n.2441del n.2649del c.1858del (p.Leu620Ter) c.883del (p.Leu295Ter) c.1597del (p.Leu533Ter) n.2393del n.2601del | gnomAD v4 |
1 | g.197427765C>A | CA344037360 | CRB1 | c.2440C>A (p.Leu814Ile) c.1321C>A (p.Leu441Ile) c.583C>A (p.Leu195Ile) c.2104C>A (p.Leu702Ile) n.341C>A c.2233C>A (p.Leu745Ile) c.2128+5809C>A (n.2128+5809C>A) n.2441C>A n.2649C>A c.1858C>A (p.Leu620Ile) c.883C>A (p.Leu295Ile) c.1597C>A (p.Leu533Ile) n.2393C>A n.2601C>A | |
1 | g.197427765C= | CA1218066256 | CRB1 | c.2440C= (p.Leu814=) c.1321C= (p.Leu441=) c.583C= (p.Leu195=) c.2104C= (p.Leu702=) n.341C= c.2233C= (p.Leu745=) c.2128+5809C= (n.2128+5809C=) n.2441C= n.2649C= c.1858C= (p.Leu620=) c.883C= (p.Leu295=) c.1597C= (p.Leu533=) n.2393C= n.2601C= | |
1 | g.197427765C>G | CA344037363 | CRB1 | c.2440C>G (p.Leu814Val) c.1321C>G (p.Leu441Val) c.583C>G (p.Leu195Val) c.2104C>G (p.Leu702Val) n.341C>G c.2233C>G (p.Leu745Val) c.2128+5809C>G (n.2128+5809C>G) n.2441C>G n.2649C>G c.1858C>G (p.Leu620Val) c.883C>G (p.Leu295Val) c.1597C>G (p.Leu533Val) n.2393C>G n.2601C>G | dbSNP |
1 | g.197427765C>T | CA422808751 | CRB1 | c.2440C>T (p.Leu814=) c.1321C>T (p.Leu441=) c.583C>T (p.Leu195=) c.2104C>T (p.Leu702=) n.341C>T c.2233C>T (p.Leu745=) c.2128+5809C>T (n.2128+5809C>T) n.2441C>T n.2649C>T c.1858C>T (p.Leu620=) c.883C>T (p.Leu295=) c.1597C>T (p.Leu533=) n.2393C>T n.2601C>T | |
1 | g.197427766T>A | CA228007 | CRB1 | c.2441T>A (p.Leu814Gln) c.1322T>A (p.Leu441Gln) c.584T>A (p.Leu195Gln) c.2105T>A (p.Leu702Gln) n.342T>A c.2234T>A (p.Leu745Gln) c.2128+5810T>A (n.2128+5810T>A) n.2442T>A n.2650T>A c.1859T>A (p.Leu620Gln) c.884T>A (p.Leu295Gln) c.1598T>A (p.Leu533Gln) n.2394T>A n.2602T>A | ClinVar dbSNP |
1 | g.197427766T>C | CA344037371 | CRB1 | c.2441T>C (p.Leu814Pro) c.1322T>C (p.Leu441Pro) c.584T>C (p.Leu195Pro) c.2105T>C (p.Leu702Pro) n.342T>C c.2234T>C (p.Leu745Pro) c.2128+5810T>C (n.2128+5810T>C) n.2442T>C n.2650T>C c.1859T>C (p.Leu620Pro) c.884T>C (p.Leu295Pro) c.1598T>C (p.Leu533Pro) n.2394T>C n.2602T>C | |
1 | g.197427766T>G | CA344037373 | CRB1 | c.2441T>G (p.Leu814Arg) c.1322T>G (p.Leu441Arg) c.584T>G (p.Leu195Arg) c.2105T>G (p.Leu702Arg) n.342T>G c.2234T>G (p.Leu745Arg) c.2128+5810T>G (n.2128+5810T>G) n.2442T>G n.2650T>G c.1859T>G (p.Leu620Arg) c.884T>G (p.Leu295Arg) c.1598T>G (p.Leu533Arg) n.2394T>G n.2602T>G | |
1 | g.197427766T= | CA1140762943 | CRB1 | c.2441T= (p.Leu814=) c.1322T= (p.Leu441=) c.584T= (p.Leu195=) c.2105T= (p.Leu702=) n.342T= c.2234T= (p.Leu745=) c.2128+5810T= (n.2128+5810T=) n.2442T= n.2650T= c.1859T= (p.Leu620=) c.884T= (p.Leu295=) c.1598T= (p.Leu533=) n.2394T= n.2602T= | |
1 | g.197427766_197427767del | CA2586964523 | CRB1 | c.2441_2442del (p.Leu814ArgfsTer23) c.1322_1323del (p.Leu441ArgfsTer23) c.584_585del (p.Leu195ArgfsTer23) c.2105_2106del (p.Leu702ArgfsTer23) n.342_343del c.2234_2235del (p.Leu745ArgfsTer23) c.2128+5810_2128+5811del (n.2128+5810_2128+5811del) n.2442_2443del n.2650_2651del c.1859_1860del (p.Leu620ArgfsTer23) c.884_885del (p.Leu295ArgfsTer23) c.1598_1599del (p.Leu533ArgfsTer23) n.2394_2395del n.2602_2603del | |
1 | g.197427767A>C | CA422808752 | CRB1 | c.2442A>C (p.Leu814=) c.1323A>C (p.Leu441=) c.585A>C (p.Leu195=) c.2106A>C (p.Leu702=) n.343A>C c.2235A>C (p.Leu745=) c.2128+5811A>C (n.2128+5811A>C) n.2443A>C n.2651A>C c.1860A>C (p.Leu620=) c.885A>C (p.Leu295=) c.1599A>C (p.Leu533=) n.2395A>C n.2603A>C | |
1 | g.197427767A>G | CA422808754 | CRB1 | c.2442A>G (p.Leu814=) c.1323A>G (p.Leu441=) c.585A>G (p.Leu195=) c.2106A>G (p.Leu702=) n.343A>G c.2235A>G (p.Leu745=) c.2128+5811A>G (n.2128+5811A>G) n.2443A>G n.2651A>G c.1860A>G (p.Leu620=) c.885A>G (p.Leu295=) c.1599A>G (p.Leu533=) n.2395A>G n.2603A>G | |
1 | g.197427767A>T | CA422808756 | CRB1 | c.2442A>T (p.Leu814=) c.1323A>T (p.Leu441=) c.585A>T (p.Leu195=) c.2106A>T (p.Leu702=) n.343A>T c.2235A>T (p.Leu745=) c.2128+5811A>T (n.2128+5811A>T) n.2443A>T n.2651A>T c.1860A>T (p.Leu620=) c.885A>T (p.Leu295=) c.1599A>T (p.Leu533=) n.2395A>T n.2603A>T | |
1 | g.197427768G>A | CA344037378 | CRB1 | c.2443G>A (p.Gly815Arg) c.1324G>A (p.Gly442Arg) c.586G>A (p.Gly196Arg) c.2107G>A (p.Gly703Arg) n.344G>A c.2236G>A (p.Gly746Arg) c.2128+5812G>A (n.2128+5812G>A) n.2444G>A n.2652G>A c.1861G>A (p.Gly621Arg) c.886G>A (p.Gly296Arg) c.1600G>A (p.Gly534Arg) n.2396G>A n.2604G>A | COSMIC |
1 | g.197427768G>C | CA344037381 | CRB1 | c.2443G>C (p.Gly815Arg) c.1324G>C (p.Gly442Arg) c.586G>C (p.Gly196Arg) c.2107G>C (p.Gly703Arg) n.344G>C c.2236G>C (p.Gly746Arg) c.2128+5812G>C (n.2128+5812G>C) n.2444G>C n.2652G>C c.1861G>C (p.Gly621Arg) c.886G>C (p.Gly296Arg) c.1600G>C (p.Gly534Arg) n.2396G>C n.2604G>C | |
1 | g.197427768G>T | CA344037383 | CRB1 | c.2443G>T (p.Gly815Ter) c.1324G>T (p.Gly442Ter) c.586G>T (p.Gly196Ter) c.2107G>T (p.Gly703Ter) n.344G>T c.2236G>T (p.Gly746Ter) c.2128+5812G>T (n.2128+5812G>T) n.2444G>T n.2652G>T c.1861G>T (p.Gly621Ter) c.886G>T (p.Gly296Ter) c.1600G>T (p.Gly534Ter) n.2396G>T n.2604G>T | |
1 | g.197427768_197427769delinsAA | CA645534549 | CRB1 | c.2443_2444delinsAA (p.Gly815Lys) c.1324_1325delinsAA (p.Gly442Lys) c.586_587delinsAA (p.Gly196Lys) c.2107_2108delinsAA (p.Gly703Lys) n.344_345delinsAA c.2236_2237delinsAA (p.Gly746Lys) c.2128+5812_2128+5813delinsAA (n.2128+5812_2128+5813delinsAA) n.2444_2445delinsAA n.2652_2653delinsAA c.1861_1862delinsAA (p.Gly621Lys) c.886_887delinsAA (p.Gly296Lys) c.1600_1601delinsAA (p.Gly534Lys) n.2396_2397delinsAA n.2604_2605delinsAA | COSMIC |
1 | g.197427769G>A | CA344037388 | CRB1 | c.2444G>A (p.Gly815Glu) c.1325G>A (p.Gly442Glu) c.587G>A (p.Gly196Glu) c.2108G>A (p.Gly703Glu) n.345G>A c.2237G>A (p.Gly746Glu) c.2128+5813G>A (n.2128+5813G>A) n.2445G>A n.2653G>A c.1862G>A (p.Gly621Glu) c.887G>A (p.Gly296Glu) c.1601G>A (p.Gly534Glu) n.2397G>A n.2605G>A | COSMIC COSMIC |
1 | g.197427769G>C | CA344037390 | CRB1 | c.2444G>C (p.Gly815Ala) c.1325G>C (p.Gly442Ala) c.587G>C (p.Gly196Ala) c.2108G>C (p.Gly703Ala) n.345G>C c.2237G>C (p.Gly746Ala) c.2128+5813G>C (n.2128+5813G>C) n.2445G>C n.2653G>C c.1862G>C (p.Gly621Ala) c.887G>C (p.Gly296Ala) c.1601G>C (p.Gly534Ala) n.2397G>C n.2605G>C | |
1 | g.197427769G>T | CA344037393 | CRB1 | c.2444G>T (p.Gly815Val) c.1325G>T (p.Gly442Val) c.587G>T (p.Gly196Val) c.2108G>T (p.Gly703Val) n.345G>T c.2237G>T (p.Gly746Val) c.2128+5813G>T (n.2128+5813G>T) n.2445G>T n.2653G>T c.1862G>T (p.Gly621Val) c.887G>T (p.Gly296Val) c.1601G>T (p.Gly534Val) n.2397G>T n.2605G>T | gnomAD v4 |
1 | g.197427770A>C | CA422808758 | CRB1 | c.2445A>C (p.Gly815=) c.1326A>C (p.Gly442=) c.588A>C (p.Gly196=) c.2109A>C (p.Gly703=) n.346A>C c.2238A>C (p.Gly746=) c.2128+5814A>C (n.2128+5814A>C) n.2446A>C n.2654A>C c.1863A>C (p.Gly621=) c.888A>C (p.Gly296=) c.1602A>C (p.Gly534=) n.2398A>C n.2606A>C | |
1 | g.197427770A>G | CA422808762 | CRB1 | c.2445A>G (p.Gly815=) c.1326A>G (p.Gly442=) c.588A>G (p.Gly196=) c.2109A>G (p.Gly703=) n.346A>G c.2238A>G (p.Gly746=) c.2128+5814A>G (n.2128+5814A>G) n.2446A>G n.2654A>G c.1863A>G (p.Gly621=) c.888A>G (p.Gly296=) c.1602A>G (p.Gly534=) n.2398A>G n.2606A>G | |
1 | g.197427770A>T | CA422808760 | CRB1 | c.2445A>T (p.Gly815=) c.1326A>T (p.Gly442=) c.588A>T (p.Gly196=) c.2109A>T (p.Gly703=) n.346A>T c.2238A>T (p.Gly746=) c.2128+5814A>T (n.2128+5814A>T) n.2446A>T n.2654A>T c.1863A>T (p.Gly621=) c.888A>T (p.Gly296=) c.1602A>T (p.Gly534=) n.2398A>T n.2606A>T | |
1 | g.197427771T>A | CA344037401 | CRB1 | c.2446T>A (p.Phe816Ile) c.1327T>A (p.Phe443Ile) c.589T>A (p.Phe197Ile) c.2110T>A (p.Phe704Ile) n.347T>A c.2239T>A (p.Phe747Ile) c.2128+5815T>A (n.2128+5815T>A) n.2447T>A n.2655T>A c.1864T>A (p.Phe622Ile) c.889T>A (p.Phe297Ile) c.1603T>A (p.Phe535Ile) n.2399T>A n.2607T>A | |
1 | g.197427771T>C | CA344037404 | CRB1 | c.2446T>C (p.Phe816Leu) c.1327T>C (p.Phe443Leu) c.589T>C (p.Phe197Leu) c.2110T>C (p.Phe704Leu) n.347T>C c.2239T>C (p.Phe747Leu) c.2128+5815T>C (n.2128+5815T>C) n.2447T>C n.2655T>C c.1864T>C (p.Phe622Leu) c.889T>C (p.Phe297Leu) c.1603T>C (p.Phe535Leu) n.2399T>C n.2607T>C | |
1 | g.197427771T>G | CA344037397 | CRB1 | c.2446T>G (p.Phe816Val) c.1327T>G (p.Phe443Val) c.589T>G (p.Phe197Val) c.2110T>G (p.Phe704Val) n.347T>G c.2239T>G (p.Phe747Val) c.2128+5815T>G (n.2128+5815T>G) n.2447T>G n.2655T>G c.1864T>G (p.Phe622Val) c.889T>G (p.Phe297Val) c.1603T>G (p.Phe535Val) n.2399T>G n.2607T>G | dbSNP |
1 | g.197427771T= | CA1218066260 | CRB1 | c.2446T= (p.Phe816=) c.1327T= (p.Phe443=) c.589T= (p.Phe197=) c.2110T= (p.Phe704=) n.347T= c.2239T= (p.Phe747=) c.2128+5815T= (n.2128+5815T=) n.2447T= n.2655T= c.1864T= (p.Phe622=) c.889T= (p.Phe297=) c.1603T= (p.Phe535=) n.2399T= n.2607T= | |
1 | g.197427773dup | CA2841342698 | CRB1 | c.2448dup (p.Ile817TyrfsTer21) c.1329dup (p.Ile444TyrfsTer21) c.591dup (p.Ile198TyrfsTer21) c.2112dup (p.Ile705TyrfsTer21) n.349dup c.2241dup (p.Ile748TyrfsTer21) c.2128+5817dup (n.2128+5817dup) n.2449dup n.2657dup c.1866dup (p.Ile623TyrfsTer21) c.891dup (p.Ile298TyrfsTer21) c.1605dup (p.Ile536TyrfsTer21) n.2401dup n.2609dup | |
1 | g.197427772T>A | CA344037411 | CRB1 | c.2447T>A (p.Phe816Tyr) c.1328T>A (p.Phe443Tyr) c.590T>A (p.Phe197Tyr) c.2111T>A (p.Phe704Tyr) n.348T>A c.2240T>A (p.Phe747Tyr) c.2128+5816T>A (n.2128+5816T>A) n.2448T>A n.2656T>A c.1865T>A (p.Phe622Tyr) c.890T>A (p.Phe297Tyr) c.1604T>A (p.Phe535Tyr) n.2400T>A n.2608T>A | |
1 | g.197427772T>C | CA344037413 | CRB1 | c.2447T>C (p.Phe816Ser) c.1328T>C (p.Phe443Ser) c.590T>C (p.Phe197Ser) c.2111T>C (p.Phe704Ser) n.348T>C c.2240T>C (p.Phe747Ser) c.2128+5816T>C (n.2128+5816T>C) n.2448T>C n.2656T>C c.1865T>C (p.Phe622Ser) c.890T>C (p.Phe297Ser) c.1604T>C (p.Phe535Ser) n.2400T>C n.2608T>C | |
1 | g.197427772T>G | CA344037417 | CRB1 | c.2447T>G (p.Phe816Cys) c.1328T>G (p.Phe443Cys) c.590T>G (p.Phe197Cys) c.2111T>G (p.Phe704Cys) n.348T>G c.2240T>G (p.Phe747Cys) c.2128+5816T>G (n.2128+5816T>G) n.2448T>G n.2656T>G c.1865T>G (p.Phe622Cys) c.890T>G (p.Phe297Cys) c.1604T>G (p.Phe535Cys) n.2400T>G n.2608T>G | |
1 | g.197427773T>A | CA344037419 | CRB1 | c.2448T>A (p.Phe816Leu) c.1329T>A (p.Phe443Leu) c.591T>A (p.Phe197Leu) c.2112T>A (p.Phe704Leu) n.349T>A c.2241T>A (p.Phe747Leu) c.2128+5817T>A (n.2128+5817T>A) n.2449T>A n.2657T>A c.1866T>A (p.Phe622Leu) c.891T>A (p.Phe297Leu) c.1605T>A (p.Phe535Leu) n.2401T>A n.2609T>A | |
1 | g.197427773T>C | CA422808764 | CRB1 | c.2448T>C (p.Phe816=) c.1329T>C (p.Phe443=) c.591T>C (p.Phe197=) c.2112T>C (p.Phe704=) n.349T>C c.2241T>C (p.Phe747=) c.2128+5817T>C (n.2128+5817T>C) n.2449T>C n.2657T>C c.1866T>C (p.Phe622=) c.891T>C (p.Phe297=) c.1605T>C (p.Phe535=) n.2401T>C n.2609T>C | |
1 | g.197427773T>G | CA344037421 | CRB1 | c.2448T>G (p.Phe816Leu) c.1329T>G (p.Phe443Leu) c.591T>G (p.Phe197Leu) c.2112T>G (p.Phe704Leu) n.349T>G c.2241T>G (p.Phe747Leu) c.2128+5817T>G (n.2128+5817T>G) n.2449T>G n.2657T>G c.1866T>G (p.Phe622Leu) c.891T>G (p.Phe297Leu) c.1605T>G (p.Phe535Leu) n.2401T>G n.2609T>G | |
1 | g.197427774A>C | CA344037426 | CRB1 | c.2449A>C (p.Ile817Leu) c.1330A>C (p.Ile444Leu) c.592A>C (p.Ile198Leu) c.2113A>C (p.Ile705Leu) n.350A>C c.2242A>C (p.Ile748Leu) c.2128+5818A>C (n.2128+5818A>C) n.2450A>C n.2658A>C c.1867A>C (p.Ile623Leu) c.892A>C (p.Ile298Leu) c.1606A>C (p.Ile536Leu) n.2402A>C n.2610A>C | |
1 | g.197427774A>G | CA344037428 | CRB1 | c.2449A>G (p.Ile817Val) c.1330A>G (p.Ile444Val) c.592A>G (p.Ile198Val) c.2113A>G (p.Ile705Val) n.350A>G c.2242A>G (p.Ile748Val) c.2128+5818A>G (n.2128+5818A>G) n.2450A>G n.2658A>G c.1867A>G (p.Ile623Val) c.892A>G (p.Ile298Val) c.1606A>G (p.Ile536Val) n.2402A>G n.2610A>G | |
1 | g.197427774A>T | CA344037430 | CRB1 | c.2449A>T (p.Ile817Phe) c.1330A>T (p.Ile444Phe) c.592A>T (p.Ile198Phe) c.2113A>T (p.Ile705Phe) n.350A>T c.2242A>T (p.Ile748Phe) c.2128+5818A>T (n.2128+5818A>T) n.2450A>T n.2658A>T c.1867A>T (p.Ile623Phe) c.892A>T (p.Ile298Phe) c.1606A>T (p.Ile536Phe) n.2402A>T n.2610A>T | |
1 | g.197427775T>A | CA344037435 | CRB1 | c.2450T>A (p.Ile817Asn) c.1331T>A (p.Ile444Asn) c.593T>A (p.Ile198Asn) c.2114T>A (p.Ile705Asn) n.351T>A c.2243T>A (p.Ile748Asn) c.2128+5819T>A (n.2128+5819T>A) n.2451T>A n.2659T>A c.1868T>A (p.Ile623Asn) c.893T>A (p.Ile298Asn) c.1607T>A (p.Ile536Asn) n.2403T>A n.2611T>A | |
1 | g.197427775T>C | CA344037437 | CRB1 | c.2450T>C (p.Ile817Thr) c.1331T>C (p.Ile444Thr) c.593T>C (p.Ile198Thr) c.2114T>C (p.Ile705Thr) n.351T>C c.2243T>C (p.Ile748Thr) c.2128+5819T>C (n.2128+5819T>C) n.2451T>C n.2659T>C c.1868T>C (p.Ile623Thr) c.893T>C (p.Ile298Thr) c.1607T>C (p.Ile536Thr) n.2403T>C n.2611T>C | |
1 | g.197427775T>G | CA344037439 | CRB1 | c.2450T>G (p.Ile817Ser) c.1331T>G (p.Ile444Ser) c.593T>G (p.Ile198Ser) c.2114T>G (p.Ile705Ser) n.351T>G c.2243T>G (p.Ile748Ser) c.2128+5819T>G (n.2128+5819T>G) n.2451T>G n.2659T>G c.1868T>G (p.Ile623Ser) c.893T>G (p.Ile298Ser) c.1607T>G (p.Ile536Ser) n.2403T>G n.2611T>G | |
1 | g.197427776T>A | CA422808767 | CRB1 | c.2451T>A (p.Ile817=) c.1332T>A (p.Ile444=) c.594T>A (p.Ile198=) c.2115T>A (p.Ile705=) n.352T>A c.2244T>A (p.Ile748=) c.2128+5820T>A (n.2128+5820T>A) n.2452T>A n.2660T>A c.1869T>A (p.Ile623=) c.894T>A (p.Ile298=) c.1608T>A (p.Ile536=) n.2404T>A n.2612T>A | |
1 | g.197427776T>C | CA422808768 | CRB1 | c.2451T>C (p.Ile817=) c.1332T>C (p.Ile444=) c.594T>C (p.Ile198=) c.2115T>C (p.Ile705=) n.352T>C c.2244T>C (p.Ile748=) c.2128+5820T>C (n.2128+5820T>C) n.2452T>C n.2660T>C c.1869T>C (p.Ile623=) c.894T>C (p.Ile298=) c.1608T>C (p.Ile536=) n.2404T>C n.2612T>C | |
1 | g.197427776T>G | CA344037440 | CRB1 | c.2451T>G (p.Ile817Met) c.1332T>G (p.Ile444Met) c.594T>G (p.Ile198Met) c.2115T>G (p.Ile705Met) n.352T>G c.2244T>G (p.Ile748Met) c.2128+5820T>G (n.2128+5820T>G) n.2452T>G n.2660T>G c.1869T>G (p.Ile623Met) c.894T>G (p.Ile298Met) c.1608T>G (p.Ile536Met) n.2404T>G n.2612T>G | |
1 | g.197427777T>A | CA344037449 | CRB1 | c.2452T>A (p.Ser818Thr) c.1333T>A (p.Ser445Thr) c.595T>A (p.Ser199Thr) c.2116T>A (p.Ser706Thr) n.353T>A c.2245T>A (p.Ser749Thr) c.2128+5821T>A (n.2128+5821T>A) n.2453T>A n.2661T>A c.1870T>A (p.Ser624Thr) c.895T>A (p.Ser299Thr) c.1609T>A (p.Ser537Thr) n.2405T>A n.2613T>A | |
1 | g.197427777T>C | CA344037443 | CRB1 | c.2452T>C (p.Ser818Pro) c.1333T>C (p.Ser445Pro) c.595T>C (p.Ser199Pro) c.2116T>C (p.Ser706Pro) n.353T>C c.2245T>C (p.Ser749Pro) c.2128+5821T>C (n.2128+5821T>C) n.2453T>C n.2661T>C c.1870T>C (p.Ser624Pro) c.895T>C (p.Ser299Pro) c.1609T>C (p.Ser537Pro) n.2405T>C n.2613T>C | |
1 | g.197427777T>G | CA344037446 | CRB1 | c.2452T>G (p.Ser818Ala) c.1333T>G (p.Ser445Ala) c.595T>G (p.Ser199Ala) c.2116T>G (p.Ser706Ala) n.353T>G c.2245T>G (p.Ser749Ala) c.2128+5821T>G (n.2128+5821T>G) n.2453T>G n.2661T>G c.1870T>G (p.Ser624Ala) c.895T>G (p.Ser299Ala) c.1609T>G (p.Ser537Ala) n.2405T>G n.2613T>G | |
1 | g.197427778C>A | CA344037454 | CRB1 | c.2453C>A (p.Ser818Tyr) c.1334C>A (p.Ser445Tyr) c.596C>A (p.Ser199Tyr) c.2117C>A (p.Ser706Tyr) n.354C>A c.2246C>A (p.Ser749Tyr) c.2128+5822C>A (n.2128+5822C>A) n.2454C>A n.2662C>A c.1871C>A (p.Ser624Tyr) c.896C>A (p.Ser299Tyr) c.1610C>A (p.Ser537Tyr) n.2406C>A n.2614C>A | gnomAD v4 |
1 | g.197427778C>G | CA344037457 | CRB1 | c.2453C>G (p.Ser818Cys) c.1334C>G (p.Ser445Cys) c.596C>G (p.Ser199Cys) c.2117C>G (p.Ser706Cys) n.354C>G c.2246C>G (p.Ser749Cys) c.2128+5822C>G (n.2128+5822C>G) n.2454C>G n.2662C>G c.1871C>G (p.Ser624Cys) c.896C>G (p.Ser299Cys) c.1610C>G (p.Ser537Cys) n.2406C>G n.2614C>G | |
1 | g.197427778C>T | CA344037460 | CRB1 | c.2453C>T (p.Ser818Phe) c.1334C>T (p.Ser445Phe) c.596C>T (p.Ser199Phe) c.2117C>T (p.Ser706Phe) n.354C>T c.2246C>T (p.Ser749Phe) c.2128+5822C>T (n.2128+5822C>T) n.2454C>T n.2662C>T c.1871C>T (p.Ser624Phe) c.896C>T (p.Ser299Phe) c.1610C>T (p.Ser537Phe) n.2406C>T n.2614C>T | COSMIC |
1 | g.197427779T>A | CA422808770 | CRB1 | c.2454T>A (p.Ser818=) c.1335T>A (p.Ser445=) c.597T>A (p.Ser199=) c.2118T>A (p.Ser706=) n.355T>A c.2247T>A (p.Ser749=) c.2128+5823T>A (n.2128+5823T>A) n.2455T>A n.2663T>A c.1872T>A (p.Ser624=) c.897T>A (p.Ser299=) c.1611T>A (p.Ser537=) n.2407T>A n.2615T>A | |
1 | g.197427779T>C | CA422808771 | CRB1 | c.2454T>C (p.Ser818=) c.1335T>C (p.Ser445=) c.597T>C (p.Ser199=) c.2118T>C (p.Ser706=) n.355T>C c.2247T>C (p.Ser749=) c.2128+5823T>C (n.2128+5823T>C) n.2455T>C n.2663T>C c.1872T>C (p.Ser624=) c.897T>C (p.Ser299=) c.1611T>C (p.Ser537=) n.2407T>C n.2615T>C | |
1 | g.197427779T>G | CA422808772 | CRB1 | c.2454T>G (p.Ser818=) c.1335T>G (p.Ser445=) c.597T>G (p.Ser199=) c.2118T>G (p.Ser706=) n.355T>G c.2247T>G (p.Ser749=) c.2128+5823T>G (n.2128+5823T>G) n.2455T>G n.2663T>G c.1872T>G (p.Ser624=) c.897T>G (p.Ser299=) c.1611T>G (p.Ser537=) n.2407T>G n.2615T>G | |
1 | g.197427780G>A | CA344037464 | CRB1 | c.2455G>A (p.Ala819Thr) c.1336G>A (p.Ala446Thr) c.598G>A (p.Ala200Thr) c.2119G>A (p.Ala707Thr) n.356G>A c.2248G>A (p.Ala750Thr) c.2128+5824G>A (n.2128+5824G>A) n.2456G>A n.2664G>A c.1873G>A (p.Ala625Thr) c.898G>A (p.Ala300Thr) c.1612G>A (p.Ala538Thr) n.2408G>A n.2616G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427780G>C | CA344037467 | CRB1 | c.2455G>C (p.Ala819Pro) c.1336G>C (p.Ala446Pro) c.598G>C (p.Ala200Pro) c.2119G>C (p.Ala707Pro) n.356G>C c.2248G>C (p.Ala750Pro) c.2128+5824G>C (n.2128+5824G>C) n.2456G>C n.2664G>C c.1873G>C (p.Ala625Pro) c.898G>C (p.Ala300Pro) c.1612G>C (p.Ala538Pro) n.2408G>C n.2616G>C | |
1 | g.197427780G= | CA1218066263 | CRB1 | c.2455G= (p.Ala819=) c.1336G= (p.Ala446=) c.598G= (p.Ala200=) c.2119G= (p.Ala707=) n.356G= c.2248G= (p.Ala750=) c.2128+5824G= (n.2128+5824G=) n.2456G= n.2664G= c.1873G= (p.Ala625=) c.898G= (p.Ala300=) c.1612G= (p.Ala538=) n.2408G= n.2616G= | |
1 | g.197427780G>T | CA344037470 | CRB1 | c.2455G>T (p.Ala819Ser) c.1336G>T (p.Ala446Ser) c.598G>T (p.Ala200Ser) c.2119G>T (p.Ala707Ser) n.356G>T c.2248G>T (p.Ala750Ser) c.2128+5824G>T (n.2128+5824G>T) n.2456G>T n.2664G>T c.1873G>T (p.Ala625Ser) c.898G>T (p.Ala300Ser) c.1612G>T (p.Ala538Ser) n.2408G>T n.2616G>T | gnomAD v4 |
1 | g.197427781C>A | CA344037478 | CRB1 | c.2456C>A (p.Ala819Asp) c.1337C>A (p.Ala446Asp) c.599C>A (p.Ala200Asp) c.2120C>A (p.Ala707Asp) n.357C>A c.2249C>A (p.Ala750Asp) c.2128+5825C>A (n.2128+5825C>A) n.2457C>A n.2665C>A c.1874C>A (p.Ala625Asp) c.899C>A (p.Ala300Asp) c.1613C>A (p.Ala538Asp) n.2409C>A n.2617C>A | |
1 | g.197427781C>G | CA344037480 | CRB1 | c.2456C>G (p.Ala819Gly) c.1337C>G (p.Ala446Gly) c.599C>G (p.Ala200Gly) c.2120C>G (p.Ala707Gly) n.357C>G c.2249C>G (p.Ala750Gly) c.2128+5825C>G (n.2128+5825C>G) n.2457C>G n.2665C>G c.1874C>G (p.Ala625Gly) c.899C>G (p.Ala300Gly) c.1613C>G (p.Ala538Gly) n.2409C>G n.2617C>G | |
1 | g.197427781C>T | CA344037482 | CRB1 | c.2456C>T (p.Ala819Val) c.1337C>T (p.Ala446Val) c.599C>T (p.Ala200Val) c.2120C>T (p.Ala707Val) n.357C>T c.2249C>T (p.Ala750Val) c.2128+5825C>T (n.2128+5825C>T) n.2457C>T n.2665C>T c.1874C>T (p.Ala625Val) c.899C>T (p.Ala300Val) c.1613C>T (p.Ala538Val) n.2409C>T n.2617C>T | gnomAD v4 |
1 | g.197427782T>A | CA422808775 | CRB1 | c.2457T>A (p.Ala819=) c.1338T>A (p.Ala446=) c.600T>A (p.Ala200=) c.2121T>A (p.Ala707=) n.358T>A c.2250T>A (p.Ala750=) c.2128+5826T>A (n.2128+5826T>A) n.2458T>A n.2666T>A c.1875T>A (p.Ala625=) c.900T>A (p.Ala300=) c.1614T>A (p.Ala538=) n.2410T>A n.2618T>A | |
1 | g.197427782T>C | CA422808777 | CRB1 | c.2457T>C (p.Ala819=) c.1338T>C (p.Ala446=) c.600T>C (p.Ala200=) c.2121T>C (p.Ala707=) n.358T>C c.2250T>C (p.Ala750=) c.2128+5826T>C (n.2128+5826T>C) n.2458T>C n.2666T>C c.1875T>C (p.Ala625=) c.900T>C (p.Ala300=) c.1614T>C (p.Ala538=) n.2410T>C n.2618T>C | |
1 | g.197427782T>G | CA422808778 | CRB1 | c.2457T>G (p.Ala819=) c.1338T>G (p.Ala446=) c.600T>G (p.Ala200=) c.2121T>G (p.Ala707=) n.358T>G c.2250T>G (p.Ala750=) c.2128+5826T>G (n.2128+5826T>G) n.2458T>G n.2666T>G c.1875T>G (p.Ala625=) c.900T>G (p.Ala300=) c.1614T>G (p.Ala538=) n.2410T>G n.2618T>G | |
1 | g.197427783T>A | CA344037484 | CRB1 | c.2458T>A (p.Ser820Thr) c.1339T>A (p.Ser447Thr) c.601T>A (p.Ser201Thr) c.2122T>A (p.Ser708Thr) n.359T>A c.2251T>A (p.Ser751Thr) c.2128+5827T>A (n.2128+5827T>A) n.2459T>A n.2667T>A c.1876T>A (p.Ser626Thr) c.901T>A (p.Ser301Thr) c.1615T>A (p.Ser539Thr) n.2411T>A n.2619T>A | |
1 | g.197427783T>C | CA344037486 | CRB1 | c.2458T>C (p.Ser820Pro) c.1339T>C (p.Ser447Pro) c.601T>C (p.Ser201Pro) c.2122T>C (p.Ser708Pro) n.359T>C c.2251T>C (p.Ser751Pro) c.2128+5827T>C (n.2128+5827T>C) n.2459T>C n.2667T>C c.1876T>C (p.Ser626Pro) c.901T>C (p.Ser301Pro) c.1615T>C (p.Ser539Pro) n.2411T>C n.2619T>C | |
1 | g.197427783T>G | CA344037489 | CRB1 | c.2458T>G (p.Ser820Ala) c.1339T>G (p.Ser447Ala) c.601T>G (p.Ser201Ala) c.2122T>G (p.Ser708Ala) n.359T>G c.2251T>G (p.Ser751Ala) c.2128+5827T>G (n.2128+5827T>G) n.2459T>G n.2667T>G c.1876T>G (p.Ser626Ala) c.901T>G (p.Ser301Ala) c.1615T>G (p.Ser539Ala) n.2411T>G n.2619T>G | |
1 | g.197427784C>A | CA344037500 | CRB1 | c.2459C>A (p.Ser820Tyr) c.1340C>A (p.Ser447Tyr) c.602C>A (p.Ser201Tyr) c.2123C>A (p.Ser708Tyr) n.360C>A c.2252C>A (p.Ser751Tyr) c.2128+5828C>A (n.2128+5828C>A) n.2460C>A n.2668C>A c.1877C>A (p.Ser626Tyr) c.902C>A (p.Ser301Tyr) c.1616C>A (p.Ser539Tyr) n.2412C>A n.2620C>A | |
1 | g.197427784C= | CA1218066266 | CRB1 | c.2459C= (p.Ser820=) c.1340C= (p.Ser447=) c.602C= (p.Ser201=) c.2123C= (p.Ser708=) n.360C= c.2252C= (p.Ser751=) c.2128+5828C= (n.2128+5828C=) n.2460C= n.2668C= c.1877C= (p.Ser626=) c.902C= (p.Ser301=) c.1616C= (p.Ser539=) n.2412C= n.2620C= | |
1 | g.197427784C>G | CA344037496 | CRB1 | c.2459C>G (p.Ser820Cys) c.1340C>G (p.Ser447Cys) c.602C>G (p.Ser201Cys) c.2123C>G (p.Ser708Cys) n.360C>G c.2252C>G (p.Ser751Cys) c.2128+5828C>G (n.2128+5828C>G) n.2460C>G n.2668C>G c.1877C>G (p.Ser626Cys) c.902C>G (p.Ser301Cys) c.1616C>G (p.Ser539Cys) n.2412C>G n.2620C>G | gnomAD v4 |
1 | g.197427784C>T | CA1312122 | CRB1 | c.2459C>T (p.Ser820Phe) c.1340C>T (p.Ser447Phe) c.602C>T (p.Ser201Phe) c.2123C>T (p.Ser708Phe) n.360C>T c.2252C>T (p.Ser751Phe) c.2128+5828C>T (n.2128+5828C>T) n.2460C>T n.2668C>T c.1877C>T (p.Ser626Phe) c.902C>T (p.Ser301Phe) c.1616C>T (p.Ser539Phe) n.2412C>T n.2620C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.197427785T>A | CA422808783 | CRB1 | c.2460T>A (p.Ser820=) c.1341T>A (p.Ser447=) c.603T>A (p.Ser201=) c.2124T>A (p.Ser708=) n.361T>A c.2253T>A (p.Ser751=) c.2128+5829T>A (n.2128+5829T>A) n.2461T>A n.2669T>A c.1878T>A (p.Ser626=) c.903T>A (p.Ser301=) c.1617T>A (p.Ser539=) n.2413T>A n.2621T>A | |
1 | g.197427785T>C | CA422808780 | CRB1 | c.2460T>C (p.Ser820=) c.1341T>C (p.Ser447=) c.603T>C (p.Ser201=) c.2124T>C (p.Ser708=) n.361T>C c.2253T>C (p.Ser751=) c.2128+5829T>C (n.2128+5829T>C) n.2461T>C n.2669T>C c.1878T>C (p.Ser626=) c.903T>C (p.Ser301=) c.1617T>C (p.Ser539=) n.2413T>C n.2621T>C | |
1 | g.197427785T>G | CA422808782 | CRB1 | c.2460T>G (p.Ser820=) c.1341T>G (p.Ser447=) c.603T>G (p.Ser201=) c.2124T>G (p.Ser708=) n.361T>G c.2253T>G (p.Ser751=) c.2128+5829T>G (n.2128+5829T>G) n.2461T>G n.2669T>G c.1878T>G (p.Ser626=) c.903T>G (p.Ser301=) c.1617T>G (p.Ser539=) n.2413T>G n.2621T>G | |
1 | g.197427786A>C | CA344037505 | CRB1 | c.2461A>C (p.Thr821Pro) c.1342A>C (p.Thr448Pro) c.604A>C (p.Thr202Pro) c.2125A>C (p.Thr709Pro) n.362A>C c.2254A>C (p.Thr752Pro) c.2128+5830A>C (n.2128+5830A>C) n.2462A>C n.2670A>C c.1879A>C (p.Thr627Pro) c.904A>C (p.Thr302Pro) c.1618A>C (p.Thr540Pro) n.2414A>C n.2622A>C | |
1 | g.197427786A>G | CA344037511 | CRB1 | c.2461A>G (p.Thr821Ala) c.1342A>G (p.Thr448Ala) c.604A>G (p.Thr202Ala) c.2125A>G (p.Thr709Ala) n.362A>G c.2254A>G (p.Thr752Ala) c.2128+5830A>G (n.2128+5830A>G) n.2462A>G n.2670A>G c.1879A>G (p.Thr627Ala) c.904A>G (p.Thr302Ala) c.1618A>G (p.Thr540Ala) n.2414A>G n.2622A>G | |
1 | g.197427786A>T | CA344037507 | CRB1 | c.2461A>T (p.Thr821Ser) c.1342A>T (p.Thr448Ser) c.604A>T (p.Thr202Ser) c.2125A>T (p.Thr709Ser) n.362A>T c.2254A>T (p.Thr752Ser) c.2128+5830A>T (n.2128+5830A>T) n.2462A>T n.2670A>T c.1879A>T (p.Thr627Ser) c.904A>T (p.Thr302Ser) c.1618A>T (p.Thr540Ser) n.2414A>T n.2622A>T | |
1 | g.197427787C>A | CA344037515 | CRB1 | c.2462C>A (p.Thr821Lys) c.1343C>A (p.Thr448Lys) c.605C>A (p.Thr202Lys) c.2126C>A (p.Thr709Lys) n.363C>A c.2255C>A (p.Thr752Lys) c.2128+5831C>A (n.2128+5831C>A) n.2463C>A n.2671C>A c.1880C>A (p.Thr627Lys) c.905C>A (p.Thr302Lys) c.1619C>A (p.Thr540Lys) n.2415C>A n.2623C>A | gnomAD v4 |
1 | g.197427787C= | CA1141893786 | CRB1 | c.2462C= (p.Thr821=) c.1343C= (p.Thr448=) c.605C= (p.Thr202=) c.2126C= (p.Thr709=) n.363C= c.2255C= (p.Thr752=) c.2128+5831C= (n.2128+5831C=) n.2463C= n.2671C= c.1880C= (p.Thr627=) c.905C= (p.Thr302=) c.1619C= (p.Thr540=) n.2415C= n.2623C= | |
1 | g.197427787C>G | CA344037518 | CRB1 | c.2462C>G (p.Thr821Arg) c.1343C>G (p.Thr448Arg) c.605C>G (p.Thr202Arg) c.2126C>G (p.Thr709Arg) n.363C>G c.2255C>G (p.Thr752Arg) c.2128+5831C>G (n.2128+5831C>G) n.2463C>G n.2671C>G c.1880C>G (p.Thr627Arg) c.905C>G (p.Thr302Arg) c.1619C>G (p.Thr540Arg) n.2415C>G n.2623C>G | ClinVar dbSNP |
1 | g.197427787C>T | CA247395 | CRB1 | c.2462C>T (p.Thr821Met) c.1343C>T (p.Thr448Met) c.605C>T (p.Thr202Met) c.2126C>T (p.Thr709Met) n.363C>T c.2255C>T (p.Thr752Met) c.2128+5831C>T (n.2128+5831C>T) n.2463C>T n.2671C>T c.1880C>T (p.Thr627Met) c.905C>T (p.Thr302Met) c.1619C>T (p.Thr540Met) n.2415C>T n.2623C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427788G>A | CA1312123 | CRB1 | c.2463G>A (p.Thr821=) c.1344G>A (p.Thr448=) c.606G>A (p.Thr202=) c.2127G>A (p.Thr709=) n.364G>A c.2256G>A (p.Thr752=) c.2128+5832G>A (n.2128+5832G>A) n.2464G>A n.2672G>A c.1881G>A (p.Thr627=) c.906G>A (p.Thr302=) c.1620G>A (p.Thr540=) n.2416G>A n.2624G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427788G>C | CA422808785 | CRB1 | c.2463G>C (p.Thr821=) c.1344G>C (p.Thr448=) c.606G>C (p.Thr202=) c.2127G>C (p.Thr709=) n.364G>C c.2256G>C (p.Thr752=) c.2128+5832G>C (n.2128+5832G>C) n.2464G>C n.2672G>C c.1881G>C (p.Thr627=) c.906G>C (p.Thr302=) c.1620G>C (p.Thr540=) n.2416G>C n.2624G>C | gnomAD v4 |
1 | g.197427788G= | CA1144049097 | CRB1 | c.2463G= (p.Thr821=) c.1344G= (p.Thr448=) c.606G= (p.Thr202=) c.2127G= (p.Thr709=) n.364G= c.2256G= (p.Thr752=) c.2128+5832G= (n.2128+5832G=) n.2464G= n.2672G= c.1881G= (p.Thr627=) c.906G= (p.Thr302=) c.1620G= (p.Thr540=) n.2416G= n.2624G= | |
1 | g.197427788G>T | CA422808786 | CRB1 | c.2463G>T (p.Thr821=) c.1344G>T (p.Thr448=) c.606G>T (p.Thr202=) c.2127G>T (p.Thr709=) n.364G>T c.2256G>T (p.Thr752=) c.2128+5832G>T (n.2128+5832G>T) n.2464G>T n.2672G>T c.1881G>T (p.Thr627=) c.906G>T (p.Thr302=) c.1620G>T (p.Thr540=) n.2416G>T n.2624G>T | |
1 | g.197427789T>A | CA344037527 | CRB1 | c.2464T>A (p.Trp822Arg) c.1345T>A (p.Trp449Arg) c.607T>A (p.Trp203Arg) c.2128T>A (p.Trp710Arg) n.365T>A c.2257T>A (p.Trp753Arg) c.2128+5833T>A (n.2128+5833T>A) n.2465T>A n.2673T>A c.1882T>A (p.Trp628Arg) c.907T>A (p.Trp303Arg) c.1621T>A (p.Trp541Arg) n.2417T>A n.2625T>A | |
1 | g.197427789T>C | CA344037529 | CRB1 | c.2464T>C (p.Trp822Arg) c.1345T>C (p.Trp449Arg) c.607T>C (p.Trp203Arg) c.2128T>C (p.Trp710Arg) n.365T>C c.2257T>C (p.Trp753Arg) c.2128+5833T>C (n.2128+5833T>C) n.2465T>C n.2673T>C c.1882T>C (p.Trp628Arg) c.907T>C (p.Trp303Arg) c.1621T>C (p.Trp541Arg) n.2417T>C n.2625T>C | |
1 | g.197427789T>G | CA344037531 | CRB1 | c.2464T>G (p.Trp822Gly) c.1345T>G (p.Trp449Gly) c.607T>G (p.Trp203Gly) c.2128T>G (p.Trp710Gly) n.365T>G c.2257T>G (p.Trp753Gly) c.2128+5833T>G (n.2128+5833T>G) n.2465T>G n.2673T>G c.1882T>G (p.Trp628Gly) c.907T>G (p.Trp303Gly) c.1621T>G (p.Trp541Gly) n.2417T>G n.2625T>G | |
1 | g.197427790G>A | CA344037535 | CRB1 | c.2465G>A (p.Trp822Ter) c.1346G>A (p.Trp449Ter) c.608G>A (p.Trp203Ter) c.2129G>A (p.Trp710Ter) n.366G>A c.2258G>A (p.Trp753Ter) c.2128+5834G>A (n.2128+5834G>A) n.2466G>A n.2674G>A c.1883G>A (p.Trp628Ter) c.908G>A (p.Trp303Ter) c.1622G>A (p.Trp541Ter) n.2418G>A n.2626G>A | COSMIC COSMIC |
1 | g.197427790G>C | CA344037539 | CRB1 | c.2465G>C (p.Trp822Ser) c.1346G>C (p.Trp449Ser) c.608G>C (p.Trp203Ser) c.2129G>C (p.Trp710Ser) n.366G>C c.2258G>C (p.Trp753Ser) c.2128+5834G>C (n.2128+5834G>C) n.2466G>C n.2674G>C c.1883G>C (p.Trp628Ser) c.908G>C (p.Trp303Ser) c.1622G>C (p.Trp541Ser) n.2418G>C n.2626G>C | |
1 | g.197427790G>T | CA344037543 | CRB1 | c.2465G>T (p.Trp822Leu) c.1346G>T (p.Trp449Leu) c.608G>T (p.Trp203Leu) c.2129G>T (p.Trp710Leu) n.366G>T c.2258G>T (p.Trp753Leu) c.2128+5834G>T (n.2128+5834G>T) n.2466G>T n.2674G>T c.1883G>T (p.Trp628Leu) c.908G>T (p.Trp303Leu) c.1622G>T (p.Trp541Leu) n.2418G>T n.2626G>T | |
1 | g.197427791G>A | CA344037547 | CRB1 | c.2466G>A (p.Trp822Ter) c.1347G>A (p.Trp449Ter) c.609G>A (p.Trp203Ter) c.2130G>A (p.Trp710Ter) n.367G>A c.2259G>A (p.Trp753Ter) c.2128+5835G>A (n.2128+5835G>A) n.2467G>A n.2675G>A c.1884G>A (p.Trp628Ter) c.909G>A (p.Trp303Ter) c.1623G>A (p.Trp541Ter) n.2419G>A n.2627G>A | ClinVar dbSNP COSMIC COSMIC |
1 | g.197427791G>C | CA344037550 | CRB1 | c.2466G>C (p.Trp822Cys) c.1347G>C (p.Trp449Cys) c.609G>C (p.Trp203Cys) c.2130G>C (p.Trp710Cys) n.367G>C c.2259G>C (p.Trp753Cys) c.2128+5835G>C (n.2128+5835G>C) n.2467G>C n.2675G>C c.1884G>C (p.Trp628Cys) c.909G>C (p.Trp303Cys) c.1623G>C (p.Trp541Cys) n.2419G>C n.2627G>C | |
1 | g.197427791G= | CA1218066276 | CRB1 | c.2466G= (p.Trp822=) c.1347G= (p.Trp449=) c.609G= (p.Trp203=) c.2130G= (p.Trp710=) n.367G= c.2259G= (p.Trp753=) c.2128+5835G= (n.2128+5835G=) n.2467G= n.2675G= c.1884G= (p.Trp628=) c.909G= (p.Trp303=) c.1623G= (p.Trp541=) n.2419G= n.2627G= | |
1 | g.197427791G>T | CA344037551 | CRB1 | c.2466G>T (p.Trp822Cys) c.1347G>T (p.Trp449Cys) c.609G>T (p.Trp203Cys) c.2130G>T (p.Trp710Cys) n.367G>T c.2259G>T (p.Trp753Cys) c.2128+5835G>T (n.2128+5835G>T) n.2467G>T n.2675G>T c.1884G>T (p.Trp628Cys) c.909G>T (p.Trp303Cys) c.1623G>T (p.Trp541Cys) n.2419G>T n.2627G>T | |
1 | g.197427792A= | CA1218066279 | CRB1 | c.2467A= (p.Lys823=) c.1348A= (p.Lys450=) c.610A= (p.Lys204=) c.2131A= (p.Lys711=) n.368A= c.2260A= (p.Lys754=) c.2128+5836A= (n.2128+5836A=) n.2468A= n.2676A= c.1885A= (p.Lys629=) c.910A= (p.Lys304=) c.1624A= (p.Lys542=) n.2420A= n.2628A= | |
1 | g.197427792A>C | CA344037556 | CRB1 | c.2467A>C (p.Lys823Gln) c.1348A>C (p.Lys450Gln) c.610A>C (p.Lys204Gln) c.2131A>C (p.Lys711Gln) n.368A>C c.2260A>C (p.Lys754Gln) c.2128+5836A>C (n.2128+5836A>C) n.2468A>C n.2676A>C c.1885A>C (p.Lys629Gln) c.910A>C (p.Lys304Gln) c.1624A>C (p.Lys542Gln) n.2420A>C n.2628A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427792A>G | CA344037562 | CRB1 | c.2467A>G (p.Lys823Glu) c.1348A>G (p.Lys450Glu) c.610A>G (p.Lys204Glu) c.2131A>G (p.Lys711Glu) n.368A>G c.2260A>G (p.Lys754Glu) c.2128+5836A>G (n.2128+5836A>G) n.2468A>G n.2676A>G c.1885A>G (p.Lys629Glu) c.910A>G (p.Lys304Glu) c.1624A>G (p.Lys542Glu) n.2420A>G n.2628A>G | |
1 | g.197427792A>T | CA344037558 | CRB1 | c.2467A>T (p.Lys823Ter) c.1348A>T (p.Lys450Ter) c.610A>T (p.Lys204Ter) c.2131A>T (p.Lys711Ter) n.368A>T c.2260A>T (p.Lys754Ter) c.2128+5836A>T (n.2128+5836A>T) n.2468A>T n.2676A>T c.1885A>T (p.Lys629Ter) c.910A>T (p.Lys304Ter) c.1624A>T (p.Lys542Ter) n.2420A>T n.2628A>T | |
1 | g.197427793A>C | CA344037566 | CRB1 | c.2468A>C (p.Lys823Thr) c.1349A>C (p.Lys450Thr) c.611A>C (p.Lys204Thr) c.2132A>C (p.Lys711Thr) n.369A>C c.2261A>C (p.Lys754Thr) c.2128+5837A>C (n.2128+5837A>C) n.2469A>C n.2677A>C c.1886A>C (p.Lys629Thr) c.911A>C (p.Lys304Thr) c.1625A>C (p.Lys542Thr) n.2421A>C n.2629A>C | |
1 | g.197427793A>G | CA344037575 | CRB1 | c.2468A>G (p.Lys823Arg) c.1349A>G (p.Lys450Arg) c.611A>G (p.Lys204Arg) c.2132A>G (p.Lys711Arg) n.369A>G c.2261A>G (p.Lys754Arg) c.2128+5837A>G (n.2128+5837A>G) n.2469A>G n.2677A>G c.1886A>G (p.Lys629Arg) c.911A>G (p.Lys304Arg) c.1625A>G (p.Lys542Arg) n.2421A>G n.2629A>G | |
1 | g.197427793A>T | CA344037579 | CRB1 | c.2468A>T (p.Lys823Ile) c.1349A>T (p.Lys450Ile) c.611A>T (p.Lys204Ile) c.2132A>T (p.Lys711Ile) n.369A>T c.2261A>T (p.Lys754Ile) c.2128+5837A>T (n.2128+5837A>T) n.2469A>T n.2677A>T c.1886A>T (p.Lys629Ile) c.911A>T (p.Lys304Ile) c.1625A>T (p.Lys542Ile) n.2421A>T n.2629A>T | |
1 | g.197427794A>C | CA344037582 | CRB1 | c.2469A>C (p.Lys823Asn) c.1350A>C (p.Lys450Asn) c.612A>C (p.Lys204Asn) c.2133A>C (p.Lys711Asn) n.370A>C c.2262A>C (p.Lys754Asn) c.2128+5838A>C (n.2128+5838A>C) n.2470A>C n.2678A>C c.1887A>C (p.Lys629Asn) c.912A>C (p.Lys304Asn) c.1626A>C (p.Lys542Asn) n.2422A>C n.2630A>C | |
1 | g.197427794A>G | CA422808790 | CRB1 | c.2469A>G (p.Lys823=) c.1350A>G (p.Lys450=) c.612A>G (p.Lys204=) c.2133A>G (p.Lys711=) n.370A>G c.2262A>G (p.Lys754=) c.2128+5838A>G (n.2128+5838A>G) n.2470A>G n.2678A>G c.1887A>G (p.Lys629=) c.912A>G (p.Lys304=) c.1626A>G (p.Lys542=) n.2422A>G n.2630A>G | |
1 | g.197427794A>T | CA344037585 | CRB1 | c.2469A>T (p.Lys823Asn) c.1350A>T (p.Lys450Asn) c.612A>T (p.Lys204Asn) c.2133A>T (p.Lys711Asn) n.370A>T c.2262A>T (p.Lys754Asn) c.2128+5838A>T (n.2128+5838A>T) n.2470A>T n.2678A>T c.1887A>T (p.Lys629Asn) c.912A>T (p.Lys304Asn) c.1626A>T (p.Lys542Asn) n.2422A>T n.2630A>T | |
1 | g.197427795A>C | CA344037588 | CRB1 | c.2470A>C (p.Ile824Leu) c.1351A>C (p.Ile451Leu) c.613A>C (p.Ile205Leu) c.2134A>C (p.Ile712Leu) n.371A>C c.2263A>C (p.Ile755Leu) c.2128+5839A>C (n.2128+5839A>C) n.2471A>C n.2679A>C c.1888A>C (p.Ile630Leu) c.913A>C (p.Ile305Leu) c.1627A>C (p.Ile543Leu) n.2423A>C n.2631A>C | |
1 | g.197427795A>G | CA344037591 | CRB1 | c.2470A>G (p.Ile824Val) c.1351A>G (p.Ile451Val) c.613A>G (p.Ile205Val) c.2134A>G (p.Ile712Val) n.371A>G c.2263A>G (p.Ile755Val) c.2128+5839A>G (n.2128+5839A>G) n.2471A>G n.2679A>G c.1888A>G (p.Ile630Val) c.913A>G (p.Ile305Val) c.1627A>G (p.Ile543Val) n.2423A>G n.2631A>G | |
1 | g.197427795A>T | CA344037595 | CRB1 | c.2470A>T (p.Ile824Phe) c.1351A>T (p.Ile451Phe) c.613A>T (p.Ile205Phe) c.2134A>T (p.Ile712Phe) n.371A>T c.2263A>T (p.Ile755Phe) c.2128+5839A>T (n.2128+5839A>T) n.2471A>T n.2679A>T c.1888A>T (p.Ile630Phe) c.913A>T (p.Ile305Phe) c.1627A>T (p.Ile543Phe) n.2423A>T n.2631A>T | |
1 | g.197427796T>A | CA344037599 | CRB1 | c.2471T>A (p.Ile824Asn) c.1352T>A (p.Ile451Asn) c.614T>A (p.Ile205Asn) c.2135T>A (p.Ile712Asn) n.372T>A c.2264T>A (p.Ile755Asn) c.2128+5840T>A (n.2128+5840T>A) n.2472T>A n.2680T>A c.1889T>A (p.Ile630Asn) c.914T>A (p.Ile305Asn) c.1628T>A (p.Ile543Asn) n.2424T>A n.2632T>A | |
1 | g.197427796T>C | CA344037603 | CRB1 | c.2471T>C (p.Ile824Thr) c.1352T>C (p.Ile451Thr) c.614T>C (p.Ile205Thr) c.2135T>C (p.Ile712Thr) n.372T>C c.2264T>C (p.Ile755Thr) c.2128+5840T>C (n.2128+5840T>C) n.2472T>C n.2680T>C c.1889T>C (p.Ile630Thr) c.914T>C (p.Ile305Thr) c.1628T>C (p.Ile543Thr) n.2424T>C n.2632T>C | |
1 | g.197427796T>G | CA344037605 | CRB1 | c.2471T>G (p.Ile824Ser) c.1352T>G (p.Ile451Ser) c.614T>G (p.Ile205Ser) c.2135T>G (p.Ile712Ser) n.372T>G c.2264T>G (p.Ile755Ser) c.2128+5840T>G (n.2128+5840T>G) n.2472T>G n.2680T>G c.1889T>G (p.Ile630Ser) c.914T>G (p.Ile305Ser) c.1628T>G (p.Ile543Ser) n.2424T>G n.2632T>G | |
1 | g.197427797C>A | CA422808797 | CRB1 | c.2472C>A (p.Ile824=) c.1353C>A (p.Ile451=) c.615C>A (p.Ile205=) c.2136C>A (p.Ile712=) n.373C>A c.2265C>A (p.Ile755=) c.2128+5841C>A (n.2128+5841C>A) n.2473C>A n.2681C>A c.1890C>A (p.Ile630=) c.915C>A (p.Ile305=) c.1629C>A (p.Ile543=) n.2425C>A n.2633C>A | |
1 | g.197427797C= | CA1218066281 | CRB1 | c.2472C= (p.Ile824=) c.1353C= (p.Ile451=) c.615C= (p.Ile205=) c.2136C= (p.Ile712=) n.373C= c.2265C= (p.Ile755=) c.2128+5841C= (n.2128+5841C=) n.2473C= n.2681C= c.1890C= (p.Ile630=) c.915C= (p.Ile305=) c.1629C= (p.Ile543=) n.2425C= n.2633C= | |
1 | g.197427797C>G | CA344037609 | CRB1 | c.2472C>G (p.Ile824Met) c.1353C>G (p.Ile451Met) c.615C>G (p.Ile205Met) c.2136C>G (p.Ile712Met) n.373C>G c.2265C>G (p.Ile755Met) c.2128+5841C>G (n.2128+5841C>G) n.2473C>G n.2681C>G c.1890C>G (p.Ile630Met) c.915C>G (p.Ile305Met) c.1629C>G (p.Ile543Met) n.2425C>G n.2633C>G | COSMIC |
1 | g.197427797C>T | CA1312124 | CRB1 | c.2472C>T (p.Ile824=) c.1353C>T (p.Ile451=) c.615C>T (p.Ile205=) c.2136C>T (p.Ile712=) n.373C>T c.2265C>T (p.Ile755=) c.2128+5841C>T (n.2128+5841C>T) n.2473C>T n.2681C>T c.1890C>T (p.Ile630=) c.915C>T (p.Ile305=) c.1629C>T (p.Ile543=) n.2425C>T n.2633C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.197427798G>A | CA1312125 | CRB1 | c.2473G>A (p.Glu825Lys) c.1354G>A (p.Glu452Lys) c.616G>A (p.Glu206Lys) c.2137G>A (p.Glu713Lys) n.374G>A c.2266G>A (p.Glu756Lys) c.2128+5842G>A (n.2128+5842G>A) n.2474G>A n.2682G>A c.1891G>A (p.Glu631Lys) c.916G>A (p.Glu306Lys) c.1630G>A (p.Glu544Lys) n.2426G>A n.2634G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427798G>C | CA344037616 | CRB1 | c.2473G>C (p.Glu825Gln) c.1354G>C (p.Glu452Gln) c.616G>C (p.Glu206Gln) c.2137G>C (p.Glu713Gln) n.374G>C c.2266G>C (p.Glu756Gln) c.2128+5842G>C (n.2128+5842G>C) n.2474G>C n.2682G>C c.1891G>C (p.Glu631Gln) c.916G>C (p.Glu306Gln) c.1630G>C (p.Glu544Gln) n.2426G>C n.2634G>C | |
1 | g.197427798G= | CA1143578896 | CRB1 | c.2473G= (p.Glu825=) c.1354G= (p.Glu452=) c.616G= (p.Glu206=) c.2137G= (p.Glu713=) n.374G= c.2266G= (p.Glu756=) c.2128+5842G= (n.2128+5842G=) n.2474G= n.2682G= c.1891G= (p.Glu631=) c.916G= (p.Glu306=) c.1630G= (p.Glu544=) n.2426G= n.2634G= | |
1 | g.197427798G>T | CA344037620 | CRB1 | c.2473G>T (p.Glu825Ter) c.1354G>T (p.Glu452Ter) c.616G>T (p.Glu206Ter) c.2137G>T (p.Glu713Ter) n.374G>T c.2266G>T (p.Glu756Ter) c.2128+5842G>T (n.2128+5842G>T) n.2474G>T n.2682G>T c.1891G>T (p.Glu631Ter) c.916G>T (p.Glu306Ter) c.1630G>T (p.Glu544Ter) n.2426G>T n.2634G>T | COSMIC COSMIC |
1 | g.197427799A= | CA1218066285 | CRB1 | c.2474A= (p.Glu825=) c.1355A= (p.Glu452=) c.617A= (p.Glu206=) c.2138A= (p.Glu713=) n.375A= c.2267A= (p.Glu756=) c.2128+5843A= (n.2128+5843A=) n.2475A= n.2683A= c.1892A= (p.Glu631=) c.917A= (p.Glu306=) c.1631A= (p.Glu544=) n.2427A= n.2635A= | |
1 | g.197427799A>C | CA344037623 | CRB1 | c.2474A>C (p.Glu825Ala) c.1355A>C (p.Glu452Ala) c.617A>C (p.Glu206Ala) c.2138A>C (p.Glu713Ala) n.375A>C c.2267A>C (p.Glu756Ala) c.2128+5843A>C (n.2128+5843A>C) n.2475A>C n.2683A>C c.1892A>C (p.Glu631Ala) c.917A>C (p.Glu306Ala) c.1631A>C (p.Glu544Ala) n.2427A>C n.2635A>C | |
1 | g.197427799A>G | CA344037628 | CRB1 | c.2474A>G (p.Glu825Gly) c.1355A>G (p.Glu452Gly) c.617A>G (p.Glu206Gly) c.2138A>G (p.Glu713Gly) n.375A>G c.2267A>G (p.Glu756Gly) c.2128+5843A>G (n.2128+5843A>G) n.2475A>G n.2683A>G c.1892A>G (p.Glu631Gly) c.917A>G (p.Glu306Gly) c.1631A>G (p.Glu544Gly) n.2427A>G n.2635A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427799A>T | CA344037631 | CRB1 | c.2474A>T (p.Glu825Val) c.1355A>T (p.Glu452Val) c.617A>T (p.Glu206Val) c.2138A>T (p.Glu713Val) n.375A>T c.2267A>T (p.Glu756Val) c.2128+5843A>T (n.2128+5843A>T) n.2475A>T n.2683A>T c.1892A>T (p.Glu631Val) c.917A>T (p.Glu306Val) c.1631A>T (p.Glu544Val) n.2427A>T n.2635A>T | |
1 | g.197427800A>C | CA344037635 | CRB1 | c.2475A>C (p.Glu825Asp) c.1356A>C (p.Glu452Asp) c.618A>C (p.Glu206Asp) c.2139A>C (p.Glu713Asp) n.376A>C c.2268A>C (p.Glu756Asp) c.2128+5844A>C (n.2128+5844A>C) n.2476A>C n.2684A>C c.1893A>C (p.Glu631Asp) c.918A>C (p.Glu306Asp) c.1632A>C (p.Glu544Asp) n.2428A>C n.2636A>C | |
1 | g.197427800A>G | CA422808801 | CRB1 | c.2475A>G (p.Glu825=) c.1356A>G (p.Glu452=) c.618A>G (p.Glu206=) c.2139A>G (p.Glu713=) n.376A>G c.2268A>G (p.Glu756=) c.2128+5844A>G (n.2128+5844A>G) n.2476A>G n.2684A>G c.1893A>G (p.Glu631=) c.918A>G (p.Glu306=) c.1632A>G (p.Glu544=) n.2428A>G n.2636A>G | |
1 | g.197427800A>T | CA344037637 | CRB1 | c.2475A>T (p.Glu825Asp) c.1356A>T (p.Glu452Asp) c.618A>T (p.Glu206Asp) c.2139A>T (p.Glu713Asp) n.376A>T c.2268A>T (p.Glu756Asp) c.2128+5844A>T (n.2128+5844A>T) n.2476A>T n.2684A>T c.1893A>T (p.Glu631Asp) c.918A>T (p.Glu306Asp) c.1632A>T (p.Glu544Asp) n.2428A>T n.2636A>T | |
1 | g.197427801A>C | CA344037641 | CRB1 | c.2476A>C (p.Lys826Gln) c.1357A>C (p.Lys453Gln) c.619A>C (p.Lys207Gln) c.2140A>C (p.Lys714Gln) n.377A>C c.2269A>C (p.Lys757Gln) c.2128+5845A>C (n.2128+5845A>C) n.2477A>C n.2685A>C c.1894A>C (p.Lys632Gln) c.919A>C (p.Lys307Gln) c.1633A>C (p.Lys545Gln) n.2429A>C n.2637A>C | |
1 | g.197427801A>G | CA344037644 | CRB1 | c.2476A>G (p.Lys826Glu) c.1357A>G (p.Lys453Glu) c.619A>G (p.Lys207Glu) c.2140A>G (p.Lys714Glu) n.377A>G c.2269A>G (p.Lys757Glu) c.2128+5845A>G (n.2128+5845A>G) n.2477A>G n.2685A>G c.1894A>G (p.Lys632Glu) c.919A>G (p.Lys307Glu) c.1633A>G (p.Lys545Glu) n.2429A>G n.2637A>G | |
1 | g.197427801A>T | CA344037645 | CRB1 | c.2476A>T (p.Lys826Ter) c.1357A>T (p.Lys453Ter) c.619A>T (p.Lys207Ter) c.2140A>T (p.Lys714Ter) n.377A>T c.2269A>T (p.Lys757Ter) c.2128+5845A>T (n.2128+5845A>T) n.2477A>T n.2685A>T c.1894A>T (p.Lys632Ter) c.919A>T (p.Lys307Ter) c.1633A>T (p.Lys545Ter) n.2429A>T n.2637A>T | |
1 | g.197427802A>C | CA344037650 | CRB1 | c.2477A>C (p.Lys826Thr) c.1358A>C (p.Lys453Thr) c.620A>C (p.Lys207Thr) c.2141A>C (p.Lys714Thr) n.378A>C c.2270A>C (p.Lys757Thr) c.2128+5846A>C (n.2128+5846A>C) n.2478A>C n.2686A>C c.1895A>C (p.Lys632Thr) c.920A>C (p.Lys307Thr) c.1634A>C (p.Lys545Thr) n.2430A>C n.2638A>C | |
1 | g.197427802A>G | CA344037651 | CRB1 | c.2477A>G (p.Lys826Arg) c.1358A>G (p.Lys453Arg) c.620A>G (p.Lys207Arg) c.2141A>G (p.Lys714Arg) n.378A>G c.2270A>G (p.Lys757Arg) c.2128+5846A>G (n.2128+5846A>G) n.2478A>G n.2686A>G c.1895A>G (p.Lys632Arg) c.920A>G (p.Lys307Arg) c.1634A>G (p.Lys545Arg) n.2430A>G n.2638A>G | |
1 | g.197427802A>T | CA344037654 | CRB1 | c.2477A>T (p.Lys826Met) c.1358A>T (p.Lys453Met) c.620A>T (p.Lys207Met) c.2141A>T (p.Lys714Met) n.378A>T c.2270A>T (p.Lys757Met) c.2128+5846A>T (n.2128+5846A>T) n.2478A>T n.2686A>T c.1895A>T (p.Lys632Met) c.920A>T (p.Lys307Met) c.1634A>T (p.Lys545Met) n.2430A>T n.2638A>T | |
1 | g.197427803G>A | CA422808806 | CRB1 | c.2478G>A (p.Lys826=) c.1359G>A (p.Lys453=) c.621G>A (p.Lys207=) c.2142G>A (p.Lys714=) n.379G>A c.2271G>A (p.Lys757=) c.2128+5847G>A (n.2128+5847G>A) n.2479G>A n.2687G>A c.1896G>A (p.Lys632=) c.921G>A (p.Lys307=) c.1635G>A (p.Lys545=) n.2431G>A n.2639G>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.197427803G>C | CA344037660 | CRB1 | c.2478G>C (p.Lys826Asn) c.1359G>C (p.Lys453Asn) c.621G>C (p.Lys207Asn) c.2142G>C (p.Lys714Asn) n.379G>C c.2271G>C (p.Lys757Asn) c.2128+5847G>C (n.2128+5847G>C) n.2479G>C n.2687G>C c.1896G>C (p.Lys632Asn) c.921G>C (p.Lys307Asn) c.1635G>C (p.Lys545Asn) n.2431G>C n.2639G>C | dbSNP |
1 | g.197427803G= | CA1218066288 | CRB1 | c.2478G= (p.Lys826=) c.1359G= (p.Lys453=) c.621G= (p.Lys207=) c.2142G= (p.Lys714=) n.379G= c.2271G= (p.Lys757=) c.2128+5847G= (n.2128+5847G=) n.2479G= n.2687G= c.1896G= (p.Lys632=) c.921G= (p.Lys307=) c.1635G= (p.Lys545=) n.2431G= n.2639G= | |
1 | g.197427803G>T | CA344037662 | CRB1 | c.2478G>T (p.Lys826Asn) c.1359G>T (p.Lys453Asn) c.621G>T (p.Lys207Asn) c.2142G>T (p.Lys714Asn) n.379G>T c.2271G>T (p.Lys757Asn) c.2128+5847G>T (n.2128+5847G>T) n.2479G>T n.2687G>T c.1896G>T (p.Lys632Asn) c.921G>T (p.Lys307Asn) c.1635G>T (p.Lys545Asn) n.2431G>T n.2639G>T | |
1 | g.197427804G>A | CA1312126 | CRB1 | c.2479G>A (p.Gly827Arg) c.1360G>A (p.Gly454Arg) c.622G>A (p.Gly208Arg) c.2143G>A (p.Gly715Arg) n.380G>A c.2272G>A (p.Gly758Arg) c.2128+5848G>A (n.2128+5848G>A) n.2480G>A n.2688G>A c.1897G>A (p.Gly633Arg) c.922G>A (p.Gly308Arg) c.1636G>A (p.Gly546Arg) n.2432G>A n.2640G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427804G>C | CA344037668 | CRB1 | c.2479G>C (p.Gly827Arg) c.1360G>C (p.Gly454Arg) c.622G>C (p.Gly208Arg) c.2143G>C (p.Gly715Arg) n.380G>C c.2272G>C (p.Gly758Arg) c.2128+5848G>C (n.2128+5848G>C) n.2480G>C n.2688G>C c.1897G>C (p.Gly633Arg) c.922G>C (p.Gly308Arg) c.1636G>C (p.Gly546Arg) n.2432G>C n.2640G>C | |
1 | g.197427804G= | CA1140762944 | CRB1 | c.2479G= (p.Gly827=) c.1360G= (p.Gly454=) c.622G= (p.Gly208=) c.2143G= (p.Gly715=) n.380G= c.2272G= (p.Gly758=) c.2128+5848G= (n.2128+5848G=) n.2480G= n.2688G= c.1897G= (p.Gly633=) c.922G= (p.Gly308=) c.1636G= (p.Gly546=) n.2432G= n.2640G= | |
1 | g.197427804G>T | CA228009 | CRB1 | c.2479G>T (p.Gly827Ter) c.1360G>T (p.Gly454Ter) c.622G>T (p.Gly208Ter) c.2143G>T (p.Gly715Ter) n.380G>T c.2272G>T (p.Gly758Ter) c.2128+5848G>T (n.2128+5848G>T) n.2480G>T n.2688G>T c.1897G>T (p.Gly633Ter) c.922G>T (p.Gly308Ter) c.1636G>T (p.Gly546Ter) n.2432G>T n.2640G>T | ClinVar dbSNP |
1 | g.197427805G>A | CA344037676 | CRB1 | c.2480G>A (p.Gly827Glu) c.1361G>A (p.Gly454Glu) c.623G>A (p.Gly208Glu) c.2144G>A (p.Gly715Glu) n.381G>A c.2273G>A (p.Gly758Glu) c.2128+5849G>A (n.2128+5849G>A) n.2481G>A n.2689G>A c.1898G>A (p.Gly633Glu) c.923G>A (p.Gly308Glu) c.1637G>A (p.Gly546Glu) n.2433G>A n.2641G>A | COSMIC COSMIC |
1 | g.197427805G>C | CA344037678 | CRB1 | c.2480G>C (p.Gly827Ala) c.1361G>C (p.Gly454Ala) c.623G>C (p.Gly208Ala) c.2144G>C (p.Gly715Ala) n.381G>C c.2273G>C (p.Gly758Ala) c.2128+5849G>C (n.2128+5849G>C) n.2481G>C n.2689G>C c.1898G>C (p.Gly633Ala) c.923G>C (p.Gly308Ala) c.1637G>C (p.Gly546Ala) n.2433G>C n.2641G>C | dbSNP |
1 | g.197427805G= | CA1218066291 | CRB1 | c.2480G= (p.Gly827=) c.1361G= (p.Gly454=) c.623G= (p.Gly208=) c.2144G= (p.Gly715=) n.381G= c.2273G= (p.Gly758=) c.2128+5849G= (n.2128+5849G=) n.2481G= n.2689G= c.1898G= (p.Gly633=) c.923G= (p.Gly308=) c.1637G= (p.Gly546=) n.2433G= n.2641G= | |
1 | g.197427805G>T | CA344037683 | CRB1 | c.2480G>T (p.Gly827Val) c.1361G>T (p.Gly454Val) c.623G>T (p.Gly208Val) c.2144G>T (p.Gly715Val) n.381G>T c.2273G>T (p.Gly758Val) c.2128+5849G>T (n.2128+5849G>T) n.2481G>T n.2689G>T c.1898G>T (p.Gly633Val) c.923G>T (p.Gly308Val) c.1637G>T (p.Gly546Val) n.2433G>T n.2641G>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427806A>C | CA422808811 | CRB1 | c.2481A>C (p.Gly827=) c.1362A>C (p.Gly454=) c.624A>C (p.Gly208=) c.2145A>C (p.Gly715=) n.382A>C c.2274A>C (p.Gly758=) c.2128+5850A>C (n.2128+5850A>C) n.2482A>C n.2690A>C c.1899A>C (p.Gly633=) c.924A>C (p.Gly308=) c.1638A>C (p.Gly546=) n.2434A>C n.2642A>C | |
1 | g.197427806A>G | CA422808809 | CRB1 | c.2481A>G (p.Gly827=) c.1362A>G (p.Gly454=) c.624A>G (p.Gly208=) c.2145A>G (p.Gly715=) n.382A>G c.2274A>G (p.Gly758=) c.2128+5850A>G (n.2128+5850A>G) n.2482A>G n.2690A>G c.1899A>G (p.Gly633=) c.924A>G (p.Gly308=) c.1638A>G (p.Gly546=) n.2434A>G n.2642A>G | |
1 | g.197427806A>T | CA422808810 | CRB1 | c.2481A>T (p.Gly827=) c.1362A>T (p.Gly454=) c.624A>T (p.Gly208=) c.2145A>T (p.Gly715=) n.382A>T c.2274A>T (p.Gly758=) c.2128+5850A>T (n.2128+5850A>T) n.2482A>T n.2690A>T c.1899A>T (p.Gly633=) c.924A>T (p.Gly308=) c.1638A>T (p.Gly546=) n.2434A>T n.2642A>T | |
1 | g.197427807G>A | CA344037687 | CRB1 | c.2482G>A (p.Asp828Asn) c.1363G>A (p.Asp455Asn) c.625G>A (p.Asp209Asn) c.2146G>A (p.Asp716Asn) n.383G>A c.2275G>A (p.Asp759Asn) c.2128+5851G>A (n.2128+5851G>A) n.2483G>A n.2691G>A c.1900G>A (p.Asp634Asn) c.925G>A (p.Asp309Asn) c.1639G>A (p.Asp547Asn) n.2435G>A n.2643G>A | |
1 | g.197427807G>C | CA344037688 | CRB1 | c.2482G>C (p.Asp828His) c.1363G>C (p.Asp455His) c.625G>C (p.Asp209His) c.2146G>C (p.Asp716His) n.383G>C c.2275G>C (p.Asp759His) c.2128+5851G>C (n.2128+5851G>C) n.2483G>C n.2691G>C c.1900G>C (p.Asp634His) c.925G>C (p.Asp309His) c.1639G>C (p.Asp547His) n.2435G>C n.2643G>C | |
1 | g.197427807G>T | CA344037692 | CRB1 | c.2482G>T (p.Asp828Tyr) c.1363G>T (p.Asp455Tyr) c.625G>T (p.Asp209Tyr) c.2146G>T (p.Asp716Tyr) n.383G>T c.2275G>T (p.Asp759Tyr) c.2128+5851G>T (n.2128+5851G>T) n.2483G>T n.2691G>T c.1900G>T (p.Asp634Tyr) c.925G>T (p.Asp309Tyr) c.1639G>T (p.Asp547Tyr) n.2435G>T n.2643G>T | gnomAD v4 |
1 | g.197427808A= | CA1218066293 | CRB1 | c.2483A= (p.Asp828=) c.1364A= (p.Asp455=) c.626A= (p.Asp209=) c.2147A= (p.Asp716=) n.384A= c.2276A= (p.Asp759=) c.2128+5852A= (n.2128+5852A=) n.2484A= n.2692A= c.1901A= (p.Asp634=) c.926A= (p.Asp309=) c.1640A= (p.Asp547=) n.2436A= n.2644A= | |
1 | g.197427808A>C | CA1312127 | CRB1 | c.2483A>C (p.Asp828Ala) c.1364A>C (p.Asp455Ala) c.626A>C (p.Asp209Ala) c.2147A>C (p.Asp716Ala) n.384A>C c.2276A>C (p.Asp759Ala) c.2128+5852A>C (n.2128+5852A>C) n.2484A>C n.2692A>C c.1901A>C (p.Asp634Ala) c.926A>C (p.Asp309Ala) c.1640A>C (p.Asp547Ala) n.2436A>C n.2644A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427808A>G | CA344037697 | CRB1 | c.2483A>G (p.Asp828Gly) c.1364A>G (p.Asp455Gly) c.626A>G (p.Asp209Gly) c.2147A>G (p.Asp716Gly) n.384A>G c.2276A>G (p.Asp759Gly) c.2128+5852A>G (n.2128+5852A>G) n.2484A>G n.2692A>G c.1901A>G (p.Asp634Gly) c.926A>G (p.Asp309Gly) c.1640A>G (p.Asp547Gly) n.2436A>G n.2644A>G | |
1 | g.197427808A>T | CA344037700 | CRB1 | c.2483A>T (p.Asp828Val) c.1364A>T (p.Asp455Val) c.626A>T (p.Asp209Val) c.2147A>T (p.Asp716Val) n.384A>T c.2276A>T (p.Asp759Val) c.2128+5852A>T (n.2128+5852A>T) n.2484A>T n.2692A>T c.1901A>T (p.Asp634Val) c.926A>T (p.Asp309Val) c.1640A>T (p.Asp547Val) n.2436A>T n.2644A>T | |
1 | g.197427809T>A | CA344037708 | CRB1 | c.2484T>A (p.Asp828Glu) c.1365T>A (p.Asp455Glu) c.627T>A (p.Asp209Glu) c.2148T>A (p.Asp716Glu) n.385T>A c.2277T>A (p.Asp759Glu) c.2128+5853T>A (n.2128+5853T>A) n.2485T>A n.2693T>A c.1902T>A (p.Asp634Glu) c.927T>A (p.Asp309Glu) c.1641T>A (p.Asp547Glu) n.2437T>A n.2645T>A | |
1 | g.197427809T>C | CA422808816 | CRB1 | c.2484T>C (p.Asp828=) c.1365T>C (p.Asp455=) c.627T>C (p.Asp209=) c.2148T>C (p.Asp716=) n.385T>C c.2277T>C (p.Asp759=) c.2128+5853T>C (n.2128+5853T>C) n.2485T>C n.2693T>C c.1902T>C (p.Asp634=) c.927T>C (p.Asp309=) c.1641T>C (p.Asp547=) n.2437T>C n.2645T>C | gnomAD v4 |
1 | g.197427809T>G | CA344037705 | CRB1 | c.2484T>G (p.Asp828Glu) c.1365T>G (p.Asp455Glu) c.627T>G (p.Asp209Glu) c.2148T>G (p.Asp716Glu) n.385T>G c.2277T>G (p.Asp759Glu) c.2128+5853T>G (n.2128+5853T>G) n.2485T>G n.2693T>G c.1902T>G (p.Asp634Glu) c.927T>G (p.Asp309Glu) c.1641T>G (p.Asp547Glu) n.2437T>G n.2645T>G | gnomAD v4 |
1 | g.197427810G>A | CA344037711 | CRB1 | c.2485G>A (p.Val829Ile) c.1366G>A (p.Val456Ile) c.628G>A (p.Val210Ile) c.2149G>A (p.Val717Ile) n.386G>A c.2278G>A (p.Val760Ile) c.2128+5854G>A (n.2128+5854G>A) n.2486G>A n.2694G>A c.1903G>A (p.Val635Ile) c.928G>A (p.Val310Ile) c.1642G>A (p.Val548Ile) n.2438G>A n.2646G>A | |
1 | g.197427810G>C | CA344037714 | CRB1 | c.2485G>C (p.Val829Leu) c.1366G>C (p.Val456Leu) c.628G>C (p.Val210Leu) c.2149G>C (p.Val717Leu) n.386G>C c.2278G>C (p.Val760Leu) c.2128+5854G>C (n.2128+5854G>C) n.2486G>C n.2694G>C c.1903G>C (p.Val635Leu) c.928G>C (p.Val310Leu) c.1642G>C (p.Val548Leu) n.2438G>C n.2646G>C | |
1 | g.197427810G>T | CA344037717 | CRB1 | c.2485G>T (p.Val829Phe) c.1366G>T (p.Val456Phe) c.628G>T (p.Val210Phe) c.2149G>T (p.Val717Phe) n.386G>T c.2278G>T (p.Val760Phe) c.2128+5854G>T (n.2128+5854G>T) n.2486G>T n.2694G>T c.1903G>T (p.Val635Phe) c.928G>T (p.Val310Phe) c.1642G>T (p.Val548Phe) n.2438G>T n.2646G>T | |
1 | g.197427811T>A | CA344037721 | CRB1 | c.2486T>A (p.Val829Asp) c.1367T>A (p.Val456Asp) c.629T>A (p.Val210Asp) c.2150T>A (p.Val717Asp) n.387T>A c.2279T>A (p.Val760Asp) c.2128+5855T>A (n.2128+5855T>A) n.2487T>A n.2695T>A c.1904T>A (p.Val635Asp) c.929T>A (p.Val310Asp) c.1643T>A (p.Val548Asp) n.2439T>A n.2647T>A | ClinVar dbSNP |
1 | g.197427811T>C | CA344037723 | CRB1 | c.2486T>C (p.Val829Ala) c.1367T>C (p.Val456Ala) c.629T>C (p.Val210Ala) c.2150T>C (p.Val717Ala) n.387T>C c.2279T>C (p.Val760Ala) c.2128+5855T>C (n.2128+5855T>C) n.2487T>C n.2695T>C c.1904T>C (p.Val635Ala) c.929T>C (p.Val310Ala) c.1643T>C (p.Val548Ala) n.2439T>C n.2647T>C | |
1 | g.197427811T>G | CA344037725 | CRB1 | c.2486T>G (p.Val829Gly) c.1367T>G (p.Val456Gly) c.629T>G (p.Val210Gly) c.2150T>G (p.Val717Gly) n.387T>G c.2279T>G (p.Val760Gly) c.2128+5855T>G (n.2128+5855T>G) n.2487T>G n.2695T>G c.1904T>G (p.Val635Gly) c.929T>G (p.Val310Gly) c.1643T>G (p.Val548Gly) n.2439T>G n.2647T>G | |
1 | g.197427811T= | CA1218066297 | CRB1 | c.2486T= (p.Val829=) c.1367T= (p.Val456=) c.629T= (p.Val210=) c.2150T= (p.Val717=) n.387T= c.2279T= (p.Val760=) c.2128+5855T= (n.2128+5855T=) n.2487T= n.2695T= c.1904T= (p.Val635=) c.929T= (p.Val310=) c.1643T= (p.Val548=) n.2439T= n.2647T= | |
1 | g.197427812C>A | CA422808825 | CRB1 | c.2487C>A (p.Val829=) c.1368C>A (p.Val456=) c.630C>A (p.Val210=) c.2151C>A (p.Val717=) n.388C>A c.2280C>A (p.Val760=) c.2128+5856C>A (n.2128+5856C>A) n.2488C>A n.2696C>A c.1905C>A (p.Val635=) c.930C>A (p.Val310=) c.1644C>A (p.Val548=) n.2440C>A n.2648C>A | gnomAD v4 |
1 | g.197427812C>G | CA422808823 | CRB1 | c.2487C>G (p.Val829=) c.1368C>G (p.Val456=) c.630C>G (p.Val210=) c.2151C>G (p.Val717=) n.388C>G c.2280C>G (p.Val760=) c.2128+5856C>G (n.2128+5856C>G) n.2488C>G n.2696C>G c.1905C>G (p.Val635=) c.930C>G (p.Val310=) c.1644C>G (p.Val548=) n.2440C>G n.2648C>G | |
1 | g.197427812C>T | CA422808824 | CRB1 | c.2487C>T (p.Val829=) c.1368C>T (p.Val456=) c.630C>T (p.Val210=) c.2151C>T (p.Val717=) n.388C>T c.2280C>T (p.Val760=) c.2128+5856C>T (n.2128+5856C>T) n.2488C>T n.2696C>T c.1905C>T (p.Val635=) c.930C>T (p.Val310=) c.1644C>T (p.Val548=) n.2440C>T n.2648C>T | ClinVar |
1 | g.197427813A= | CA1218066303 | CRB1 | c.2488A= (p.Ile830=) c.1369A= (p.Ile457=) c.631A= (p.Ile211=) c.2152A= (p.Ile718=) n.389A= c.2281A= (p.Ile761=) c.2128+5857A= (n.2128+5857A=) n.2489A= n.2697A= c.1906A= (p.Ile636=) c.931A= (p.Ile311=) c.1645A= (p.Ile549=) n.2441A= n.2649A= | |
1 | g.197427813A>C | CA344037730 | CRB1 | c.2488A>C (p.Ile830Leu) c.1369A>C (p.Ile457Leu) c.631A>C (p.Ile211Leu) c.2152A>C (p.Ile718Leu) n.389A>C c.2281A>C (p.Ile761Leu) c.2128+5857A>C (n.2128+5857A>C) n.2489A>C n.2697A>C c.1906A>C (p.Ile636Leu) c.931A>C (p.Ile311Leu) c.1645A>C (p.Ile549Leu) n.2441A>C n.2649A>C | |
1 | g.197427813A>G | CA344037729 | CRB1 | c.2488A>G (p.Ile830Val) c.1369A>G (p.Ile457Val) c.631A>G (p.Ile211Val) c.2152A>G (p.Ile718Val) n.389A>G c.2281A>G (p.Ile761Val) c.2128+5857A>G (n.2128+5857A>G) n.2489A>G n.2697A>G c.1906A>G (p.Ile636Val) c.931A>G (p.Ile311Val) c.1645A>G (p.Ile549Val) n.2441A>G n.2649A>G | dbSNP |
1 | g.197427813A>T | CA1312128 | CRB1 | c.2488A>T (p.Ile830Phe) c.1369A>T (p.Ile457Phe) c.631A>T (p.Ile211Phe) c.2152A>T (p.Ile718Phe) n.389A>T c.2281A>T (p.Ile761Phe) c.2128+5857A>T (n.2128+5857A>T) n.2489A>T n.2697A>T c.1906A>T (p.Ile636Phe) c.931A>T (p.Ile311Phe) c.1645A>T (p.Ile549Phe) n.2441A>T n.2649A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427814T>A | CA344037732 | CRB1 | c.2489T>A (p.Ile830Asn) c.1370T>A (p.Ile457Asn) c.632T>A (p.Ile211Asn) c.2153T>A (p.Ile718Asn) n.390T>A c.2282T>A (p.Ile761Asn) c.2128+5858T>A (n.2128+5858T>A) n.2490T>A n.2698T>A c.1907T>A (p.Ile636Asn) c.932T>A (p.Ile311Asn) c.1646T>A (p.Ile549Asn) n.2442T>A n.2650T>A | ClinVar dbSNP |
1 | g.197427814T>C | CA344037733 | CRB1 | c.2489T>C (p.Ile830Thr) c.1370T>C (p.Ile457Thr) c.632T>C (p.Ile211Thr) c.2153T>C (p.Ile718Thr) n.390T>C c.2282T>C (p.Ile761Thr) c.2128+5858T>C (n.2128+5858T>C) n.2490T>C n.2698T>C c.1907T>C (p.Ile636Thr) c.932T>C (p.Ile311Thr) c.1646T>C (p.Ile549Thr) n.2442T>C n.2650T>C | |
1 | g.197427814T>G | CA344037735 | CRB1 | c.2489T>G (p.Ile830Ser) c.1370T>G (p.Ile457Ser) c.632T>G (p.Ile211Ser) c.2153T>G (p.Ile718Ser) n.390T>G c.2282T>G (p.Ile761Ser) c.2128+5858T>G (n.2128+5858T>G) n.2490T>G n.2698T>G c.1907T>G (p.Ile636Ser) c.932T>G (p.Ile311Ser) c.1646T>G (p.Ile549Ser) n.2442T>G n.2650T>G | |
1 | g.197427815_197427816del | CA2837994669 | CRB1 | c.2490_2491del (p.Tyr831HisfsTer6) c.1371_1372del (p.Tyr458HisfsTer6) c.633_634del (p.Tyr212HisfsTer6) c.2154_2155del (p.Tyr719HisfsTer6) n.391_392del c.2283_2284del (p.Tyr762HisfsTer6) c.2128+5859_2128+5860del (n.2128+5859_2128+5860del) n.2491_2492del n.2699_2700del c.1908_1909del (p.Tyr637HisfsTer6) c.933_934del (p.Tyr312HisfsTer6) c.1647_1648del (p.Tyr550HisfsTer6) n.2443_2444del n.2651_2652del | |
1 | g.197427815C>A | CA422808828 | CRB1 | c.2490C>A (p.Ile830=) c.1371C>A (p.Ile457=) c.633C>A (p.Ile211=) c.2154C>A (p.Ile718=) n.391C>A c.2283C>A (p.Ile761=) c.2128+5859C>A (n.2128+5859C>A) n.2491C>A n.2699C>A c.1908C>A (p.Ile636=) c.933C>A (p.Ile311=) c.1647C>A (p.Ile549=) n.2443C>A n.2651C>A | |
1 | g.197427815C>G | CA344037738 | CRB1 | c.2490C>G (p.Ile830Met) c.1371C>G (p.Ile457Met) c.633C>G (p.Ile211Met) c.2154C>G (p.Ile718Met) n.391C>G c.2283C>G (p.Ile761Met) c.2128+5859C>G (n.2128+5859C>G) n.2491C>G n.2699C>G c.1908C>G (p.Ile636Met) c.933C>G (p.Ile311Met) c.1647C>G (p.Ile549Met) n.2443C>G n.2651C>G | dbSNP COSMIC COSMIC |
1 | g.197427815C>T | CA422808830 | CRB1 | c.2490C>T (p.Ile830=) c.1371C>T (p.Ile457=) c.633C>T (p.Ile211=) c.2154C>T (p.Ile718=) n.391C>T c.2283C>T (p.Ile761=) c.2128+5859C>T (n.2128+5859C>T) n.2491C>T n.2699C>T c.1908C>T (p.Ile636=) c.933C>T (p.Ile311=) c.1647C>T (p.Ile549=) n.2443C>T n.2651C>T | |
1 | g.197427816T>A | CA344037743 | CRB1 | c.2491T>A (p.Tyr831Asn) c.1372T>A (p.Tyr458Asn) c.634T>A (p.Tyr212Asn) c.2155T>A (p.Tyr719Asn) n.392T>A c.2284T>A (p.Tyr762Asn) c.2128+5860T>A (n.2128+5860T>A) n.2492T>A n.2700T>A c.1909T>A (p.Tyr637Asn) c.934T>A (p.Tyr312Asn) c.1648T>A (p.Tyr550Asn) n.2444T>A n.2652T>A | |
1 | g.197427816T>C | CA344037746 | CRB1 | c.2491T>C (p.Tyr831His) c.1372T>C (p.Tyr458His) c.634T>C (p.Tyr212His) c.2155T>C (p.Tyr719His) n.392T>C c.2284T>C (p.Tyr762His) c.2128+5860T>C (n.2128+5860T>C) n.2492T>C n.2700T>C c.1909T>C (p.Tyr637His) c.934T>C (p.Tyr312His) c.1648T>C (p.Tyr550His) n.2444T>C n.2652T>C | dbSNP gnomAD v4 |
1 | g.197427816T>G | CA344037748 | CRB1 | c.2491T>G (p.Tyr831Asp) c.1372T>G (p.Tyr458Asp) c.634T>G (p.Tyr212Asp) c.2155T>G (p.Tyr719Asp) n.392T>G c.2284T>G (p.Tyr762Asp) c.2128+5860T>G (n.2128+5860T>G) n.2492T>G n.2700T>G c.1909T>G (p.Tyr637Asp) c.934T>G (p.Tyr312Asp) c.1648T>G (p.Tyr550Asp) n.2444T>G n.2652T>G | |
1 | g.197427816T= | CA1218066305 | CRB1 | c.2491T= (p.Tyr831=) c.1372T= (p.Tyr458=) c.634T= (p.Tyr212=) c.2155T= (p.Tyr719=) n.392T= c.2284T= (p.Tyr762=) c.2128+5860T= (n.2128+5860T=) n.2492T= n.2700T= c.1909T= (p.Tyr637=) c.934T= (p.Tyr312=) c.1648T= (p.Tyr550=) n.2444T= n.2652T= | |
1 | g.197427817A>C | CA344037751 | CRB1 | c.2492A>C (p.Tyr831Ser) c.1373A>C (p.Tyr458Ser) c.635A>C (p.Tyr212Ser) c.2156A>C (p.Tyr719Ser) n.393A>C c.2285A>C (p.Tyr762Ser) c.2128+5861A>C (n.2128+5861A>C) n.2493A>C n.2701A>C c.1910A>C (p.Tyr637Ser) c.935A>C (p.Tyr312Ser) c.1649A>C (p.Tyr550Ser) n.2445A>C n.2653A>C | |
1 | g.197427817A>G | CA344037753 | CRB1 | c.2492A>G (p.Tyr831Cys) c.1373A>G (p.Tyr458Cys) c.635A>G (p.Tyr212Cys) c.2156A>G (p.Tyr719Cys) n.393A>G c.2285A>G (p.Tyr762Cys) c.2128+5861A>G (n.2128+5861A>G) n.2493A>G n.2701A>G c.1910A>G (p.Tyr637Cys) c.935A>G (p.Tyr312Cys) c.1649A>G (p.Tyr550Cys) n.2445A>G n.2653A>G | |
1 | g.197427817A>T | CA344037752 | CRB1 | c.2492A>T (p.Tyr831Phe) c.1373A>T (p.Tyr458Phe) c.635A>T (p.Tyr212Phe) c.2156A>T (p.Tyr719Phe) n.393A>T c.2285A>T (p.Tyr762Phe) c.2128+5861A>T (n.2128+5861A>T) n.2493A>T n.2701A>T c.1910A>T (p.Tyr637Phe) c.935A>T (p.Tyr312Phe) c.1649A>T (p.Tyr550Phe) n.2445A>T n.2653A>T | |
1 | g.197427818C>A | CA344037754 | CRB1 | c.2493C>A (p.Tyr831Ter) c.1374C>A (p.Tyr458Ter) c.636C>A (p.Tyr212Ter) c.2157C>A (p.Tyr719Ter) n.394C>A c.2286C>A (p.Tyr762Ter) c.2128+5862C>A (n.2128+5862C>A) n.2494C>A n.2702C>A c.1911C>A (p.Tyr637Ter) c.936C>A (p.Tyr312Ter) c.1650C>A (p.Tyr550Ter) n.2446C>A n.2654C>A | |
1 | g.197427818C>G | CA344037756 | CRB1 | c.2493C>G (p.Tyr831Ter) c.1374C>G (p.Tyr458Ter) c.636C>G (p.Tyr212Ter) c.2157C>G (p.Tyr719Ter) n.394C>G c.2286C>G (p.Tyr762Ter) c.2128+5862C>G (n.2128+5862C>G) n.2494C>G n.2702C>G c.1911C>G (p.Tyr637Ter) c.936C>G (p.Tyr312Ter) c.1650C>G (p.Tyr550Ter) n.2446C>G n.2654C>G | |
1 | g.197427818C>T | CA422808834 | CRB1 | c.2493C>T (p.Tyr831=) c.1374C>T (p.Tyr458=) c.636C>T (p.Tyr212=) c.2157C>T (p.Tyr719=) n.394C>T c.2286C>T (p.Tyr762=) c.2128+5862C>T (n.2128+5862C>T) n.2494C>T n.2702C>T c.1911C>T (p.Tyr637=) c.936C>T (p.Tyr312=) c.1650C>T (p.Tyr550=) n.2446C>T n.2654C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427819A>C | CA344037759 | CRB1 | c.2494A>C (p.Ile832Leu) c.1375A>C (p.Ile459Leu) c.637A>C (p.Ile213Leu) c.2158A>C (p.Ile720Leu) n.395A>C c.2287A>C (p.Ile763Leu) c.2128+5863A>C (n.2128+5863A>C) n.2495A>C n.2703A>C c.1912A>C (p.Ile638Leu) c.937A>C (p.Ile313Leu) c.1651A>C (p.Ile551Leu) n.2447A>C n.2655A>C | gnomAD v4 |
1 | g.197427819A>G | CA344037760 | CRB1 | c.2494A>G (p.Ile832Val) c.1375A>G (p.Ile459Val) c.637A>G (p.Ile213Val) c.2158A>G (p.Ile720Val) n.395A>G c.2287A>G (p.Ile763Val) c.2128+5863A>G (n.2128+5863A>G) n.2495A>G n.2703A>G c.1912A>G (p.Ile638Val) c.937A>G (p.Ile313Val) c.1651A>G (p.Ile551Val) n.2447A>G n.2655A>G | gnomAD v4 |
1 | g.197427819A>T | CA344037762 | CRB1 | c.2494A>T (p.Ile832Phe) c.1375A>T (p.Ile459Phe) c.637A>T (p.Ile213Phe) c.2158A>T (p.Ile720Phe) n.395A>T c.2287A>T (p.Ile763Phe) c.2128+5863A>T (n.2128+5863A>T) n.2495A>T n.2703A>T c.1912A>T (p.Ile638Phe) c.937A>T (p.Ile313Phe) c.1651A>T (p.Ile551Phe) n.2447A>T n.2655A>T | |
1 | g.197427820T>A | CA344037763 | CRB1 | c.2495T>A (p.Ile832Asn) c.1376T>A (p.Ile459Asn) c.638T>A (p.Ile213Asn) c.2159T>A (p.Ile720Asn) n.396T>A c.2288T>A (p.Ile763Asn) c.2128+5864T>A (n.2128+5864T>A) n.2496T>A n.2704T>A c.1913T>A (p.Ile638Asn) c.938T>A (p.Ile313Asn) c.1652T>A (p.Ile551Asn) n.2448T>A n.2656T>A | |
1 | g.197427820T>C | CA344037770 | CRB1 | c.2495T>C (p.Ile832Thr) c.1376T>C (p.Ile459Thr) c.638T>C (p.Ile213Thr) c.2159T>C (p.Ile720Thr) n.396T>C c.2288T>C (p.Ile763Thr) c.2128+5864T>C (n.2128+5864T>C) n.2496T>C n.2704T>C c.1913T>C (p.Ile638Thr) c.938T>C (p.Ile313Thr) c.1652T>C (p.Ile551Thr) n.2448T>C n.2656T>C | gnomAD v4 |
1 | g.197427820T>G | CA344037773 | CRB1 | c.2495T>G (p.Ile832Ser) c.1376T>G (p.Ile459Ser) c.638T>G (p.Ile213Ser) c.2159T>G (p.Ile720Ser) n.396T>G c.2288T>G (p.Ile763Ser) c.2128+5864T>G (n.2128+5864T>G) n.2496T>G n.2704T>G c.1913T>G (p.Ile638Ser) c.938T>G (p.Ile313Ser) c.1652T>G (p.Ile551Ser) n.2448T>G n.2656T>G | |
1 | g.197427821T>A | CA422808838 | CRB1 | c.2496T>A (p.Ile832=) c.1377T>A (p.Ile459=) c.639T>A (p.Ile213=) c.2160T>A (p.Ile720=) n.397T>A c.2289T>A (p.Ile763=) c.2128+5865T>A (n.2128+5865T>A) n.2497T>A n.2705T>A c.1914T>A (p.Ile638=) c.939T>A (p.Ile313=) c.1653T>A (p.Ile551=) n.2449T>A n.2657T>A | |
1 | g.197427821T>C | CA422808839 | CRB1 | c.2496T>C (p.Ile832=) c.1377T>C (p.Ile459=) c.639T>C (p.Ile213=) c.2160T>C (p.Ile720=) n.397T>C c.2289T>C (p.Ile763=) c.2128+5865T>C (n.2128+5865T>C) n.2497T>C n.2705T>C c.1914T>C (p.Ile638=) c.939T>C (p.Ile313=) c.1653T>C (p.Ile551=) n.2449T>C n.2657T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427821T>G | CA344037776 | CRB1 | c.2496T>G (p.Ile832Met) c.1377T>G (p.Ile459Met) c.639T>G (p.Ile213Met) c.2160T>G (p.Ile720Met) n.397T>G c.2289T>G (p.Ile763Met) c.2128+5865T>G (n.2128+5865T>G) n.2497T>G n.2705T>G c.1914T>G (p.Ile638Met) c.939T>G (p.Ile313Met) c.1653T>G (p.Ile551Met) n.2449T>G n.2657T>G | |
1 | g.197427821T= | CA1218066307 | CRB1 | c.2496T= (p.Ile832=) c.1377T= (p.Ile459=) c.639T= (p.Ile213=) c.2160T= (p.Ile720=) n.397T= c.2289T= (p.Ile763=) c.2128+5865T= (n.2128+5865T=) n.2497T= n.2705T= c.1914T= (p.Ile638=) c.939T= (p.Ile313=) c.1653T= (p.Ile551=) n.2449T= n.2657T= | |
1 | g.197427822G>A | CA344037779 | CRB1 | c.2497G>A (p.Gly833Ser) c.1378G>A (p.Gly460Ser) c.640G>A (p.Gly214Ser) c.2161G>A (p.Gly721Ser) n.398G>A c.2290G>A (p.Gly764Ser) c.2128+5866G>A (n.2128+5866G>A) n.2498G>A n.2706G>A c.1915G>A (p.Gly639Ser) c.940G>A (p.Gly314Ser) c.1654G>A (p.Gly552Ser) n.2450G>A n.2658G>A | |
1 | g.197427822G>C | CA344037792 | CRB1 | c.2497G>C (p.Gly833Arg) c.1378G>C (p.Gly460Arg) c.640G>C (p.Gly214Arg) c.2161G>C (p.Gly721Arg) n.398G>C c.2290G>C (p.Gly764Arg) c.2128+5866G>C (n.2128+5866G>C) n.2498G>C n.2706G>C c.1915G>C (p.Gly639Arg) c.940G>C (p.Gly314Arg) c.1654G>C (p.Gly552Arg) n.2450G>C n.2658G>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427822G= | CA1218066309 | CRB1 | c.2497G= (p.Gly833=) c.1378G= (p.Gly460=) c.640G= (p.Gly214=) c.2161G= (p.Gly721=) n.398G= c.2290G= (p.Gly764=) c.2128+5866G= (n.2128+5866G=) n.2498G= n.2706G= c.1915G= (p.Gly639=) c.940G= (p.Gly314=) c.1654G= (p.Gly552=) n.2450G= n.2658G= | |
1 | g.197427822G>T | CA344037794 | CRB1 | c.2497G>T (p.Gly833Cys) c.1378G>T (p.Gly460Cys) c.640G>T (p.Gly214Cys) c.2161G>T (p.Gly721Cys) n.398G>T c.2290G>T (p.Gly764Cys) c.2128+5866G>T (n.2128+5866G>T) n.2498G>T n.2706G>T c.1915G>T (p.Gly639Cys) c.940G>T (p.Gly314Cys) c.1654G>T (p.Gly552Cys) n.2450G>T n.2658G>T | ClinVar dbSNP COSMIC COSMIC |
1 | g.197427823G>A | CA344037805 | CRB1 | c.2498G>A (p.Gly833Asp) c.1379G>A (p.Gly460Asp) c.641G>A (p.Gly214Asp) c.2162G>A (p.Gly721Asp) n.399G>A c.2291G>A (p.Gly764Asp) c.2128+5867G>A (n.2128+5867G>A) n.2499G>A n.2707G>A c.1916G>A (p.Gly639Asp) c.941G>A (p.Gly314Asp) c.1655G>A (p.Gly552Asp) n.2451G>A n.2659G>A | ClinVar dbSNP |
1 | g.197427823G>C | CA344037798 | CRB1 | c.2498G>C (p.Gly833Ala) c.1379G>C (p.Gly460Ala) c.641G>C (p.Gly214Ala) c.2162G>C (p.Gly721Ala) n.399G>C c.2291G>C (p.Gly764Ala) c.2128+5867G>C (n.2128+5867G>C) n.2499G>C n.2707G>C c.1916G>C (p.Gly639Ala) c.941G>C (p.Gly314Ala) c.1655G>C (p.Gly552Ala) n.2451G>C n.2659G>C | |
1 | g.197427823G= | CA1218066313 | CRB1 | c.2498G= (p.Gly833=) c.1379G= (p.Gly460=) c.641G= (p.Gly214=) c.2162G= (p.Gly721=) n.399G= c.2291G= (p.Gly764=) c.2128+5867G= (n.2128+5867G=) n.2499G= n.2707G= c.1916G= (p.Gly639=) c.941G= (p.Gly314=) c.1655G= (p.Gly552=) n.2451G= n.2659G= | |
1 | g.197427823G>T | CA344037803 | CRB1 | c.2498G>T (p.Gly833Val) c.1379G>T (p.Gly460Val) c.641G>T (p.Gly214Val) c.2162G>T (p.Gly721Val) n.399G>T c.2291G>T (p.Gly764Val) c.2128+5867G>T (n.2128+5867G>T) n.2499G>T n.2707G>T c.1916G>T (p.Gly639Val) c.941G>T (p.Gly314Val) c.1655G>T (p.Gly552Val) n.2451G>T n.2659G>T | |
1 | g.197427824T>A | CA422808841 | CRB1 | c.2499T>A (p.Gly833=) c.1380T>A (p.Gly460=) c.642T>A (p.Gly214=) c.2163T>A (p.Gly721=) n.400T>A c.2292T>A (p.Gly764=) c.2128+5868T>A (n.2128+5868T>A) n.2500T>A n.2708T>A c.1917T>A (p.Gly639=) c.942T>A (p.Gly314=) c.1656T>A (p.Gly552=) n.2452T>A n.2660T>A | |
1 | g.197427824T>C | CA422808842 | CRB1 | c.2499T>C (p.Gly833=) c.1380T>C (p.Gly460=) c.642T>C (p.Gly214=) c.2163T>C (p.Gly721=) n.400T>C c.2292T>C (p.Gly764=) c.2128+5868T>C (n.2128+5868T>C) n.2500T>C n.2708T>C c.1917T>C (p.Gly639=) c.942T>C (p.Gly314=) c.1656T>C (p.Gly552=) n.2452T>C n.2660T>C | |
1 | g.197427824T>G | CA422808843 | CRB1 | c.2499T>G (p.Gly833=) c.1380T>G (p.Gly460=) c.642T>G (p.Gly214=) c.2163T>G (p.Gly721=) n.400T>G c.2292T>G (p.Gly764=) c.2128+5868T>G (n.2128+5868T>G) n.2500T>G n.2708T>G c.1917T>G (p.Gly639=) c.942T>G (p.Gly314=) c.1656T>G (p.Gly552=) n.2452T>G n.2660T>G | |
1 | g.197427825G>A | CA344037808 | CRB1 | c.2500G>A (p.Gly834Ser) c.1381G>A (p.Gly461Ser) c.643G>A (p.Gly215Ser) c.2164G>A (p.Gly722Ser) n.401G>A c.2293G>A (p.Gly765Ser) c.2128+5869G>A (n.2128+5869G>A) n.2501G>A n.2709G>A c.1918G>A (p.Gly640Ser) c.943G>A (p.Gly315Ser) c.1657G>A (p.Gly553Ser) n.2453G>A n.2661G>A | gnomAD v4 |
1 | g.197427825G>C | CA344037811 | CRB1 | c.2500G>C (p.Gly834Arg) c.1381G>C (p.Gly461Arg) c.643G>C (p.Gly215Arg) c.2164G>C (p.Gly722Arg) n.401G>C c.2293G>C (p.Gly765Arg) c.2128+5869G>C (n.2128+5869G>C) n.2501G>C n.2709G>C c.1918G>C (p.Gly640Arg) c.943G>C (p.Gly315Arg) c.1657G>C (p.Gly553Arg) n.2453G>C n.2661G>C | |
1 | g.197427825G>T | CA344037826 | CRB1 | c.2500G>T (p.Gly834Cys) c.1381G>T (p.Gly461Cys) c.643G>T (p.Gly215Cys) c.2164G>T (p.Gly722Cys) n.401G>T c.2293G>T (p.Gly765Cys) c.2128+5869G>T (n.2128+5869G>T) n.2501G>T n.2709G>T c.1918G>T (p.Gly640Cys) c.943G>T (p.Gly315Cys) c.1657G>T (p.Gly553Cys) n.2453G>T n.2661G>T |