Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197434755A= | CA1142137119 | CRB1 | c.2892A= (p.Arg964=) c.1773A= (p.Arg591=) c.1035A= (p.Arg345=) c.2556A= (p.Arg852=) c.2820A= (p.Arg940=) c.2129-845A= (n.2129-845A=) n.2893A= n.3101A= c.2310A= (p.Arg770=) c.1335A= (p.Arg445=) c.2049A= (p.Arg683=) c.3027A= (p.Arg1009=) n.2845A= n.3053A= | |
1 | g.197434755A>C | CA344043286 | CRB1 | c.2892A>C (p.Arg964Ser) c.1773A>C (p.Arg591Ser) c.1035A>C (p.Arg345Ser) c.2556A>C (p.Arg852Ser) c.2820A>C (p.Arg940Ser) c.2129-845A>C (n.2129-845A>C) n.2893A>C n.3101A>C c.2310A>C (p.Arg770Ser) c.1335A>C (p.Arg445Ser) c.2049A>C (p.Arg683Ser) c.3027A>C (p.Arg1009Ser) n.2845A>C n.3053A>C | |
1 | g.197434755A>G | CA1312242 | CRB1 | c.2892A>G (p.Arg964=) c.1773A>G (p.Arg591=) c.1035A>G (p.Arg345=) c.2556A>G (p.Arg852=) c.2820A>G (p.Arg940=) c.2129-845A>G (n.2129-845A>G) n.2893A>G n.3101A>G c.2310A>G (p.Arg770=) c.1335A>G (p.Arg445=) c.2049A>G (p.Arg683=) c.3027A>G (p.Arg1009=) n.2845A>G n.3053A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434755A>T | CA344043290 | CRB1 | c.2892A>T (p.Arg964Ser) c.1773A>T (p.Arg591Ser) c.1035A>T (p.Arg345Ser) c.2556A>T (p.Arg852Ser) c.2820A>T (p.Arg940Ser) c.2129-845A>T (n.2129-845A>T) n.2893A>T n.3101A>T c.2310A>T (p.Arg770Ser) c.1335A>T (p.Arg445Ser) c.2049A>T (p.Arg683Ser) c.3027A>T (p.Arg1009Ser) n.2845A>T n.3053A>T | |
1 | g.197434756A>C | CA344043297 | CRB1 | c.2893A>C (p.Ser965Arg) c.1774A>C (p.Ser592Arg) c.1036A>C (p.Ser346Arg) c.2557A>C (p.Ser853Arg) c.2821A>C (p.Ser941Arg) c.2129-844A>C (n.2129-844A>C) n.2894A>C n.3102A>C c.2311A>C (p.Ser771Arg) c.1336A>C (p.Ser446Arg) c.2050A>C (p.Ser684Arg) c.3028A>C (p.Ser1010Arg) n.2846A>C n.3054A>C | |
1 | g.197434756A>G | CA344043299 | CRB1 | c.2893A>G (p.Ser965Gly) c.1774A>G (p.Ser592Gly) c.1036A>G (p.Ser346Gly) c.2557A>G (p.Ser853Gly) c.2821A>G (p.Ser941Gly) c.2129-844A>G (n.2129-844A>G) n.2894A>G n.3102A>G c.2311A>G (p.Ser771Gly) c.1336A>G (p.Ser446Gly) c.2050A>G (p.Ser684Gly) c.3028A>G (p.Ser1010Gly) n.2846A>G n.3054A>G | gnomAD v4 |
1 | g.197434756A>T | CA344043301 | CRB1 | c.2893A>T (p.Ser965Cys) c.1774A>T (p.Ser592Cys) c.1036A>T (p.Ser346Cys) c.2557A>T (p.Ser853Cys) c.2821A>T (p.Ser941Cys) c.2129-844A>T (n.2129-844A>T) n.2894A>T n.3102A>T c.2311A>T (p.Ser771Cys) c.1336A>T (p.Ser446Cys) c.2050A>T (p.Ser684Cys) c.3028A>T (p.Ser1010Cys) n.2846A>T n.3054A>T | |
1 | g.197434757G>A | CA35906593 | CRB1 | c.2894G>A (p.Ser965Asn) c.1775G>A (p.Ser592Asn) c.1037G>A (p.Ser346Asn) c.2558G>A (p.Ser853Asn) c.2822G>A (p.Ser941Asn) c.2129-843G>A (n.2129-843G>A) n.2895G>A n.3103G>A c.2312G>A (p.Ser771Asn) c.1337G>A (p.Ser446Asn) c.2051G>A (p.Ser684Asn) c.3029G>A (p.Ser1010Asn) n.2847G>A n.3055G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434757G>C | CA344043308 | CRB1 | c.2894G>C (p.Ser965Thr) c.1775G>C (p.Ser592Thr) c.1037G>C (p.Ser346Thr) c.2558G>C (p.Ser853Thr) c.2822G>C (p.Ser941Thr) c.2129-843G>C (n.2129-843G>C) n.2895G>C n.3103G>C c.2312G>C (p.Ser771Thr) c.1337G>C (p.Ser446Thr) c.2051G>C (p.Ser684Thr) c.3029G>C (p.Ser1010Thr) n.2847G>C n.3055G>C | |
1 | g.197434757G= | CA1218068656 | CRB1 | c.2894G= (p.Ser965=) c.1775G= (p.Ser592=) c.1037G= (p.Ser346=) c.2558G= (p.Ser853=) c.2822G= (p.Ser941=) c.2129-843G= (n.2129-843G=) n.2895G= n.3103G= c.2312G= (p.Ser771=) c.1337G= (p.Ser446=) c.2051G= (p.Ser684=) c.3029G= (p.Ser1010=) n.2847G= n.3055G= | |
1 | g.197434757G>T | CA344043305 | CRB1 | c.2894G>T (p.Ser965Ile) c.1775G>T (p.Ser592Ile) c.1037G>T (p.Ser346Ile) c.2558G>T (p.Ser853Ile) c.2822G>T (p.Ser941Ile) c.2129-843G>T (n.2129-843G>T) n.2895G>T n.3103G>T c.2312G>T (p.Ser771Ile) c.1337G>T (p.Ser446Ile) c.2051G>T (p.Ser684Ile) c.3029G>T (p.Ser1010Ile) n.2847G>T n.3055G>T | |
1 | g.197434758C>A | CA344043310 | CRB1 | c.2895C>A (p.Ser965Arg) c.1776C>A (p.Ser592Arg) c.1038C>A (p.Ser346Arg) c.2559C>A (p.Ser853Arg) c.2823C>A (p.Ser941Arg) c.2129-842C>A (n.2129-842C>A) n.2896C>A n.3104C>A c.2313C>A (p.Ser771Arg) c.1338C>A (p.Ser446Arg) c.2052C>A (p.Ser684Arg) c.3030C>A (p.Ser1010Arg) n.2848C>A n.3056C>A | |
1 | g.197434758C>G | CA344043313 | CRB1 | c.2895C>G (p.Ser965Arg) c.1776C>G (p.Ser592Arg) c.1038C>G (p.Ser346Arg) c.2559C>G (p.Ser853Arg) c.2823C>G (p.Ser941Arg) c.2129-842C>G (n.2129-842C>G) n.2896C>G n.3104C>G c.2313C>G (p.Ser771Arg) c.1338C>G (p.Ser446Arg) c.2052C>G (p.Ser684Arg) c.3030C>G (p.Ser1010Arg) n.2848C>G n.3056C>G | |
1 | g.197434758C>T | CA422672528 | CRB1 | c.2895C>T (p.Ser965=) c.1776C>T (p.Ser592=) c.1038C>T (p.Ser346=) c.2559C>T (p.Ser853=) c.2823C>T (p.Ser941=) c.2129-842C>T (n.2129-842C>T) n.2896C>T n.3104C>T c.2313C>T (p.Ser771=) c.1338C>T (p.Ser446=) c.2052C>T (p.Ser684=) c.3030C>T (p.Ser1010=) n.2848C>T n.3056C>T | |
1 | g.197434759A>C | CA344043318 | CRB1 | c.2896A>C (p.Asn966His) c.1777A>C (p.Asn593His) c.1039A>C (p.Asn347His) c.2560A>C (p.Asn854His) c.2824A>C (p.Asn942His) c.2129-841A>C (n.2129-841A>C) n.2897A>C n.3105A>C c.2314A>C (p.Asn772His) c.1339A>C (p.Asn447His) c.2053A>C (p.Asn685His) c.3031A>C (p.Asn1011His) n.2849A>C n.3057A>C | |
1 | g.197434759A>G | CA344043320 | CRB1 | c.2896A>G (p.Asn966Asp) c.1777A>G (p.Asn593Asp) c.1039A>G (p.Asn347Asp) c.2560A>G (p.Asn854Asp) c.2824A>G (p.Asn942Asp) c.2129-841A>G (n.2129-841A>G) n.2897A>G n.3105A>G c.2314A>G (p.Asn772Asp) c.1339A>G (p.Asn447Asp) c.2053A>G (p.Asn685Asp) c.3031A>G (p.Asn1011Asp) n.2849A>G n.3057A>G | |
1 | g.197434759A>T | CA344043322 | CRB1 | c.2896A>T (p.Asn966Tyr) c.1777A>T (p.Asn593Tyr) c.1039A>T (p.Asn347Tyr) c.2560A>T (p.Asn854Tyr) c.2824A>T (p.Asn942Tyr) c.2129-841A>T (n.2129-841A>T) n.2897A>T n.3105A>T c.2314A>T (p.Asn772Tyr) c.1339A>T (p.Asn447Tyr) c.2053A>T (p.Asn685Tyr) c.3031A>T (p.Asn1011Tyr) n.2849A>T n.3057A>T | |
1 | g.197434760A>C | CA344043325 | CRB1 | c.2897A>C (p.Asn966Thr) c.1778A>C (p.Asn593Thr) c.1040A>C (p.Asn347Thr) c.2561A>C (p.Asn854Thr) c.2825A>C (p.Asn942Thr) c.2129-840A>C (n.2129-840A>C) n.2898A>C n.3106A>C c.2315A>C (p.Asn772Thr) c.1340A>C (p.Asn447Thr) c.2054A>C (p.Asn685Thr) c.3032A>C (p.Asn1011Thr) n.2850A>C n.3058A>C | |
1 | g.197434760A>G | CA344043326 | CRB1 | c.2897A>G (p.Asn966Ser) c.1778A>G (p.Asn593Ser) c.1040A>G (p.Asn347Ser) c.2561A>G (p.Asn854Ser) c.2825A>G (p.Asn942Ser) c.2129-840A>G (n.2129-840A>G) n.2898A>G n.3106A>G c.2315A>G (p.Asn772Ser) c.1340A>G (p.Asn447Ser) c.2054A>G (p.Asn685Ser) c.3032A>G (p.Asn1011Ser) n.2850A>G n.3058A>G | |
1 | g.197434760A>T | CA344043327 | CRB1 | c.2897A>T (p.Asn966Ile) c.1778A>T (p.Asn593Ile) c.1040A>T (p.Asn347Ile) c.2561A>T (p.Asn854Ile) c.2825A>T (p.Asn942Ile) c.2129-840A>T (n.2129-840A>T) n.2898A>T n.3106A>T c.2315A>T (p.Asn772Ile) c.1340A>T (p.Asn447Ile) c.2054A>T (p.Asn685Ile) c.3032A>T (p.Asn1011Ile) n.2850A>T n.3058A>T | |
1 | g.197434761T>A | CA344043331 | CRB1 | c.2898T>A (p.Asn966Lys) c.1779T>A (p.Asn593Lys) c.1041T>A (p.Asn347Lys) c.2562T>A (p.Asn854Lys) c.2826T>A (p.Asn942Lys) c.2129-839T>A (n.2129-839T>A) n.2899T>A n.3107T>A c.2316T>A (p.Asn772Lys) c.1341T>A (p.Asn447Lys) c.2055T>A (p.Asn685Lys) c.3033T>A (p.Asn1011Lys) n.2851T>A n.3059T>A | |
1 | g.197434761T>C | CA422672529 | CRB1 | c.2898T>C (p.Asn966=) c.1779T>C (p.Asn593=) c.1041T>C (p.Asn347=) c.2562T>C (p.Asn854=) c.2826T>C (p.Asn942=) c.2129-839T>C (n.2129-839T>C) n.2899T>C n.3107T>C c.2316T>C (p.Asn772=) c.1341T>C (p.Asn447=) c.2055T>C (p.Asn685=) c.3033T>C (p.Asn1011=) n.2851T>C n.3059T>C | ClinVar dbSNP |
1 | g.197434761T>G | CA344043334 | CRB1 | c.2898T>G (p.Asn966Lys) c.1779T>G (p.Asn593Lys) c.1041T>G (p.Asn347Lys) c.2562T>G (p.Asn854Lys) c.2826T>G (p.Asn942Lys) c.2129-839T>G (n.2129-839T>G) n.2899T>G n.3107T>G c.2316T>G (p.Asn772Lys) c.1341T>G (p.Asn447Lys) c.2055T>G (p.Asn685Lys) c.3033T>G (p.Asn1011Lys) n.2851T>G n.3059T>G | |
1 | g.197434762G>A | CA344043355 | CRB1 | c.2899G>A (p.Gly967Arg) c.1780G>A (p.Gly594Arg) c.1042G>A (p.Gly348Arg) c.2563G>A (p.Gly855Arg) c.2827G>A (p.Gly943Arg) c.2129-838G>A (n.2129-838G>A) n.2900G>A n.3108G>A c.2317G>A (p.Gly773Arg) c.1342G>A (p.Gly448Arg) c.2056G>A (p.Gly686Arg) c.3034G>A (p.Gly1012Arg) n.2852G>A n.3060G>A | gnomAD v4 |
1 | g.197434762G>C | CA344043340 | CRB1 | c.2899G>C (p.Gly967Arg) c.1780G>C (p.Gly594Arg) c.1042G>C (p.Gly348Arg) c.2563G>C (p.Gly855Arg) c.2827G>C (p.Gly943Arg) c.2129-838G>C (n.2129-838G>C) n.2900G>C n.3108G>C c.2317G>C (p.Gly773Arg) c.1342G>C (p.Gly448Arg) c.2056G>C (p.Gly686Arg) c.3034G>C (p.Gly1012Arg) n.2852G>C n.3060G>C | |
1 | g.197434762G>T | CA344043337 | CRB1 | c.2899G>T (p.Gly967Trp) c.1780G>T (p.Gly594Trp) c.1042G>T (p.Gly348Trp) c.2563G>T (p.Gly855Trp) c.2827G>T (p.Gly943Trp) c.2129-838G>T (n.2129-838G>T) n.2900G>T n.3108G>T c.2317G>T (p.Gly773Trp) c.1342G>T (p.Gly448Trp) c.2056G>T (p.Gly686Trp) c.3034G>T (p.Gly1012Trp) n.2852G>T n.3060G>T | |
1 | g.197434763G>A | CA35906600 | CRB1 | c.2900G>A (p.Gly967Glu) c.1781G>A (p.Gly594Glu) c.1043G>A (p.Gly348Glu) c.2564G>A (p.Gly855Glu) c.2828G>A (p.Gly943Glu) c.2129-837G>A (n.2129-837G>A) n.2901G>A n.3109G>A c.2318G>A (p.Gly773Glu) c.1343G>A (p.Gly448Glu) c.2057G>A (p.Gly686Glu) c.3035G>A (p.Gly1012Glu) n.2853G>A n.3061G>A | dbSNP COSMIC COSMIC |
1 | g.197434763G>C | CA344043366 | CRB1 | c.2900G>C (p.Gly967Ala) c.1781G>C (p.Gly594Ala) c.1043G>C (p.Gly348Ala) c.2564G>C (p.Gly855Ala) c.2828G>C (p.Gly943Ala) c.2129-837G>C (n.2129-837G>C) n.2901G>C n.3109G>C c.2318G>C (p.Gly773Ala) c.1343G>C (p.Gly448Ala) c.2057G>C (p.Gly686Ala) c.3035G>C (p.Gly1012Ala) n.2853G>C n.3061G>C | |
1 | g.197434763G= | CA1143537111 | CRB1 | c.2900G= (p.Gly967=) c.1781G= (p.Gly594=) c.1043G= (p.Gly348=) c.2564G= (p.Gly855=) c.2828G= (p.Gly943=) c.2129-837G= (n.2129-837G=) n.2901G= n.3109G= c.2318G= (p.Gly773=) c.1343G= (p.Gly448=) c.2057G= (p.Gly686=) c.3035G= (p.Gly1012=) n.2853G= n.3061G= | |
1 | g.197434763G>T | CA344043363 | CRB1 | c.2900G>T (p.Gly967Val) c.1781G>T (p.Gly594Val) c.1043G>T (p.Gly348Val) c.2564G>T (p.Gly855Val) c.2828G>T (p.Gly943Val) c.2129-837G>T (n.2129-837G>T) n.2901G>T n.3109G>T c.2318G>T (p.Gly773Val) c.1343G>T (p.Gly448Val) c.2057G>T (p.Gly686Val) c.3035G>T (p.Gly1012Val) n.2853G>T n.3061G>T | gnomAD v4 |
1 | g.197434764G>A | CA422672530 | CRB1 | c.2901G>A (p.Gly967=) c.1782G>A (p.Gly594=) c.1044G>A (p.Gly348=) c.2565G>A (p.Gly855=) c.2829G>A (p.Gly943=) c.2129-836G>A (n.2129-836G>A) n.2902G>A n.3110G>A c.2319G>A (p.Gly773=) c.1344G>A (p.Gly448=) c.2058G>A (p.Gly686=) c.3036G>A (p.Gly1012=) n.2854G>A n.3062G>A | ClinVar dbSNP gnomAD v4 |
1 | g.197434764G>C | CA422672531 | CRB1 | c.2901G>C (p.Gly967=) c.1782G>C (p.Gly594=) c.1044G>C (p.Gly348=) c.2565G>C (p.Gly855=) c.2829G>C (p.Gly943=) c.2129-836G>C (n.2129-836G>C) n.2902G>C n.3110G>C c.2319G>C (p.Gly773=) c.1344G>C (p.Gly448=) c.2058G>C (p.Gly686=) c.3036G>C (p.Gly1012=) n.2854G>C n.3062G>C | ClinVar dbSNP |
1 | g.197434764G= | CA1218068657 | CRB1 | c.2901G= (p.Gly967=) c.1782G= (p.Gly594=) c.1044G= (p.Gly348=) c.2565G= (p.Gly855=) c.2829G= (p.Gly943=) c.2129-836G= (n.2129-836G=) n.2902G= n.3110G= c.2319G= (p.Gly773=) c.1344G= (p.Gly448=) c.2058G= (p.Gly686=) c.3036G= (p.Gly1012=) n.2854G= n.3062G= | |
1 | g.197434764G>T | CA1312243 | CRB1 | c.2901G>T (p.Gly967=) c.1782G>T (p.Gly594=) c.1044G>T (p.Gly348=) c.2565G>T (p.Gly855=) c.2829G>T (p.Gly943=) c.2129-836G>T (n.2129-836G>T) n.2902G>T n.3110G>T c.2319G>T (p.Gly773=) c.1344G>T (p.Gly448=) c.2058G>T (p.Gly686=) c.3036G>T (p.Gly1012=) n.2854G>T n.3062G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434767_197434779del | CA2606719373 | CRB1 | c.2904_2916del (p.Ile969SerfsTer15) c.1785_1797del (p.Ile596SerfsTer15) c.1047_1059del (p.Ile350SerfsTer15) c.2568_2580del (p.Ile857SerfsTer15) c.2832_2844del (p.Ile945SerfsTer15) c.2129-833_2129-821del (n.2129-833_2129-821del) n.2905_2917del n.3113_3125del c.2322_2334del (p.Ile775SerfsTer15) c.1347_1359del (p.Ile450SerfsTer15) c.2061_2073del (p.Ile688SerfsTer15) c.3039_3051del (p.Ile1014SerfsTer15) n.2857_2869del n.3065_3077del | gnomAD v3 gnomAD v4 |
1 | g.197434765A>C | CA344043386 | CRB1 | c.2902A>C (p.Asn968His) c.1783A>C (p.Asn595His) c.1045A>C (p.Asn349His) c.2566A>C (p.Asn856His) c.2830A>C (p.Asn944His) c.2129-835A>C (n.2129-835A>C) n.2903A>C n.3111A>C c.2320A>C (p.Asn774His) c.1345A>C (p.Asn449His) c.2059A>C (p.Asn687His) c.3037A>C (p.Asn1013His) n.2855A>C n.3063A>C | |
1 | g.197434765A>G | CA344043379 | CRB1 | c.2902A>G (p.Asn968Asp) c.1783A>G (p.Asn595Asp) c.1045A>G (p.Asn349Asp) c.2566A>G (p.Asn856Asp) c.2830A>G (p.Asn944Asp) c.2129-835A>G (n.2129-835A>G) n.2903A>G n.3111A>G c.2320A>G (p.Asn774Asp) c.1345A>G (p.Asn449Asp) c.2059A>G (p.Asn687Asp) c.3037A>G (p.Asn1013Asp) n.2855A>G n.3063A>G | |
1 | g.197434765A>T | CA344043388 | CRB1 | c.2902A>T (p.Asn968Tyr) c.1783A>T (p.Asn595Tyr) c.1045A>T (p.Asn349Tyr) c.2566A>T (p.Asn856Tyr) c.2830A>T (p.Asn944Tyr) c.2129-835A>T (n.2129-835A>T) n.2903A>T n.3111A>T c.2320A>T (p.Asn774Tyr) c.1345A>T (p.Asn449Tyr) c.2059A>T (p.Asn687Tyr) c.3037A>T (p.Asn1013Tyr) n.2855A>T n.3063A>T | |
1 | g.197434766A= | CA1218068658 | CRB1 | c.2903A= (p.Asn968=) c.1784A= (p.Asn595=) c.1046A= (p.Asn349=) c.2567A= (p.Asn856=) c.2831A= (p.Asn944=) c.2129-834A= (n.2129-834A=) n.2904A= n.3112A= c.2321A= (p.Asn774=) c.1346A= (p.Asn449=) c.2060A= (p.Asn687=) c.3038A= (p.Asn1013=) n.2856A= n.3064A= | |
1 | g.197434766A>C | CA344043394 | CRB1 | c.2903A>C (p.Asn968Thr) c.1784A>C (p.Asn595Thr) c.1046A>C (p.Asn349Thr) c.2567A>C (p.Asn856Thr) c.2831A>C (p.Asn944Thr) c.2129-834A>C (n.2129-834A>C) n.2904A>C n.3112A>C c.2321A>C (p.Asn774Thr) c.1346A>C (p.Asn449Thr) c.2060A>C (p.Asn687Thr) c.3038A>C (p.Asn1013Thr) n.2856A>C n.3064A>C | dbSNP |
1 | g.197434766A>G | CA344043396 | CRB1 | c.2903A>G (p.Asn968Ser) c.1784A>G (p.Asn595Ser) c.1046A>G (p.Asn349Ser) c.2567A>G (p.Asn856Ser) c.2831A>G (p.Asn944Ser) c.2129-834A>G (n.2129-834A>G) n.2904A>G n.3112A>G c.2321A>G (p.Asn774Ser) c.1346A>G (p.Asn449Ser) c.2060A>G (p.Asn687Ser) c.3038A>G (p.Asn1013Ser) n.2856A>G n.3064A>G | |
1 | g.197434766A>T | CA344043399 | CRB1 | c.2903A>T (p.Asn968Ile) c.1784A>T (p.Asn595Ile) c.1046A>T (p.Asn349Ile) c.2567A>T (p.Asn856Ile) c.2831A>T (p.Asn944Ile) c.2129-834A>T (n.2129-834A>T) n.2904A>T n.3112A>T c.2321A>T (p.Asn774Ile) c.1346A>T (p.Asn449Ile) c.2060A>T (p.Asn687Ile) c.3038A>T (p.Asn1013Ile) n.2856A>T n.3064A>T | gnomAD v4 |
1 | g.197434767T>A | CA344043402 | CRB1 | c.2904T>A (p.Asn968Lys) c.1785T>A (p.Asn595Lys) c.1047T>A (p.Asn349Lys) c.2568T>A (p.Asn856Lys) c.2832T>A (p.Asn944Lys) c.2129-833T>A (n.2129-833T>A) n.2905T>A n.3113T>A c.2322T>A (p.Asn774Lys) c.1347T>A (p.Asn449Lys) c.2061T>A (p.Asn687Lys) c.3039T>A (p.Asn1013Lys) n.2857T>A n.3065T>A | |
1 | g.197434767T>C | CA422672532 | CRB1 | c.2904T>C (p.Asn968=) c.1785T>C (p.Asn595=) c.1047T>C (p.Asn349=) c.2568T>C (p.Asn856=) c.2832T>C (p.Asn944=) c.2129-833T>C (n.2129-833T>C) n.2905T>C n.3113T>C c.2322T>C (p.Asn774=) c.1347T>C (p.Asn449=) c.2061T>C (p.Asn687=) c.3039T>C (p.Asn1013=) n.2857T>C n.3065T>C | |
1 | g.197434767T>G | CA344043406 | CRB1 | c.2904T>G (p.Asn968Lys) c.1785T>G (p.Asn595Lys) c.1047T>G (p.Asn349Lys) c.2568T>G (p.Asn856Lys) c.2832T>G (p.Asn944Lys) c.2129-833T>G (n.2129-833T>G) n.2905T>G n.3113T>G c.2322T>G (p.Asn774Lys) c.1347T>G (p.Asn449Lys) c.2061T>G (p.Asn687Lys) c.3039T>G (p.Asn1013Lys) n.2857T>G n.3065T>G | |
1 | g.197434767dup | CA2740090446 | CRB1 | c.2904dup (p.Ile969TyrfsTer29) c.1785dup (p.Ile596TyrfsTer29) c.1047dup (p.Ile350TyrfsTer29) c.2568dup (p.Ile857TyrfsTer29) c.2832dup (p.Ile945TyrfsTer29) c.2129-833dup (n.2129-833dup) n.2905dup n.3113dup c.2322dup (p.Ile775TyrfsTer29) c.1347dup (p.Ile450TyrfsTer29) c.2061dup (p.Ile688TyrfsTer29) c.3039dup (p.Ile1014TyrfsTer29) n.2857dup n.3065dup | ClinVar |
1 | g.197434768A>C | CA344043408 | CRB1 | c.2905A>C (p.Ile969Leu) c.1786A>C (p.Ile596Leu) c.1048A>C (p.Ile350Leu) c.2569A>C (p.Ile857Leu) c.2833A>C (p.Ile945Leu) c.2129-832A>C (n.2129-832A>C) n.2906A>C n.3114A>C c.2323A>C (p.Ile775Leu) c.1348A>C (p.Ile450Leu) c.2062A>C (p.Ile688Leu) c.3040A>C (p.Ile1014Leu) n.2858A>C n.3066A>C | |
1 | g.197434768A>G | CA344043413 | CRB1 | c.2905A>G (p.Ile969Val) c.1786A>G (p.Ile596Val) c.1048A>G (p.Ile350Val) c.2569A>G (p.Ile857Val) c.2833A>G (p.Ile945Val) c.2129-832A>G (n.2129-832A>G) n.2906A>G n.3114A>G c.2323A>G (p.Ile775Val) c.1348A>G (p.Ile450Val) c.2062A>G (p.Ile688Val) c.3040A>G (p.Ile1014Val) n.2858A>G n.3066A>G | |
1 | g.197434768A>T | CA344043420 | CRB1 | c.2905A>T (p.Ile969Phe) c.1786A>T (p.Ile596Phe) c.1048A>T (p.Ile350Phe) c.2569A>T (p.Ile857Phe) c.2833A>T (p.Ile945Phe) c.2129-832A>T (n.2129-832A>T) n.2906A>T n.3114A>T c.2323A>T (p.Ile775Phe) c.1348A>T (p.Ile450Phe) c.2062A>T (p.Ile688Phe) c.3040A>T (p.Ile1014Phe) n.2858A>T n.3066A>T | gnomAD v4 |
1 | g.197434769T>A | CA344043423 | CRB1 | c.2906T>A (p.Ile969Asn) c.1787T>A (p.Ile596Asn) c.1049T>A (p.Ile350Asn) c.2570T>A (p.Ile857Asn) c.2834T>A (p.Ile945Asn) c.2129-831T>A (n.2129-831T>A) n.2907T>A n.3115T>A c.2324T>A (p.Ile775Asn) c.1349T>A (p.Ile450Asn) c.2063T>A (p.Ile688Asn) c.3041T>A (p.Ile1014Asn) n.2859T>A n.3067T>A | |
1 | g.197434769T>C | CA344043425 | CRB1 | c.2906T>C (p.Ile969Thr) c.1787T>C (p.Ile596Thr) c.1049T>C (p.Ile350Thr) c.2570T>C (p.Ile857Thr) c.2834T>C (p.Ile945Thr) c.2129-831T>C (n.2129-831T>C) n.2907T>C n.3115T>C c.2324T>C (p.Ile775Thr) c.1349T>C (p.Ile450Thr) c.2063T>C (p.Ile688Thr) c.3041T>C (p.Ile1014Thr) n.2859T>C n.3067T>C | |
1 | g.197434769T>G | CA344043428 | CRB1 | c.2906T>G (p.Ile969Ser) c.1787T>G (p.Ile596Ser) c.1049T>G (p.Ile350Ser) c.2570T>G (p.Ile857Ser) c.2834T>G (p.Ile945Ser) c.2129-831T>G (n.2129-831T>G) n.2907T>G n.3115T>G c.2324T>G (p.Ile775Ser) c.1349T>G (p.Ile450Ser) c.2063T>G (p.Ile688Ser) c.3041T>G (p.Ile1014Ser) n.2859T>G n.3067T>G | |
1 | g.197434770dup | CA2649670637 | CRB1 | c.2907dup (p.Thr970TyrfsTer28) c.1788dup (p.Thr597TyrfsTer28) c.1050dup (p.Thr351TyrfsTer28) c.2571dup (p.Thr858TyrfsTer28) c.2835dup (p.Thr946TyrfsTer28) c.2129-830dup (n.2129-830dup) n.2908dup n.3116dup c.2325dup (p.Thr776TyrfsTer28) c.1350dup (p.Thr451TyrfsTer28) c.2064dup (p.Thr689TyrfsTer28) c.3042dup (p.Thr1015TyrfsTer28) n.2860dup n.3068dup | gnomAD v4 |
1 | g.197434770T>A | CA422672533 | CRB1 | c.2907T>A (p.Ile969=) c.1788T>A (p.Ile596=) c.1050T>A (p.Ile350=) c.2571T>A (p.Ile857=) c.2835T>A (p.Ile945=) c.2129-830T>A (n.2129-830T>A) n.2908T>A n.3116T>A c.2325T>A (p.Ile775=) c.1350T>A (p.Ile450=) c.2064T>A (p.Ile688=) c.3042T>A (p.Ile1014=) n.2860T>A n.3068T>A | |
1 | g.197434770T>C | CA422672534 | CRB1 | c.2907T>C (p.Ile969=) c.1788T>C (p.Ile596=) c.1050T>C (p.Ile350=) c.2571T>C (p.Ile857=) c.2835T>C (p.Ile945=) c.2129-830T>C (n.2129-830T>C) n.2908T>C n.3116T>C c.2325T>C (p.Ile775=) c.1350T>C (p.Ile450=) c.2064T>C (p.Ile688=) c.3042T>C (p.Ile1014=) n.2860T>C n.3068T>C | ClinVar |
1 | g.197434770T>G | CA344043432 | CRB1 | c.2907T>G (p.Ile969Met) c.1788T>G (p.Ile596Met) c.1050T>G (p.Ile350Met) c.2571T>G (p.Ile857Met) c.2835T>G (p.Ile945Met) c.2129-830T>G (n.2129-830T>G) n.2908T>G n.3116T>G c.2325T>G (p.Ile775Met) c.1350T>G (p.Ile450Met) c.2064T>G (p.Ile688Met) c.3042T>G (p.Ile1014Met) n.2860T>G n.3068T>G | |
1 | g.197434771A= | CA1218068659 | CRB1 | c.2908A= (p.Thr970=) c.1789A= (p.Thr597=) c.1051A= (p.Thr351=) c.2572A= (p.Thr858=) c.2836A= (p.Thr946=) c.2129-829A= (n.2129-829A=) n.2909A= n.3117A= c.2326A= (p.Thr776=) c.1351A= (p.Thr451=) c.2065A= (p.Thr689=) c.3043A= (p.Thr1015=) n.2861A= n.3069A= | |
1 | g.197434771A>C | CA1312244 | CRB1 | c.2908A>C (p.Thr970Pro) c.1789A>C (p.Thr597Pro) c.1051A>C (p.Thr351Pro) c.2572A>C (p.Thr858Pro) c.2836A>C (p.Thr946Pro) c.2129-829A>C (n.2129-829A>C) n.2909A>C n.3117A>C c.2326A>C (p.Thr776Pro) c.1351A>C (p.Thr451Pro) c.2065A>C (p.Thr689Pro) c.3043A>C (p.Thr1015Pro) n.2861A>C n.3069A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434771A>G | CA344043441 | CRB1 | c.2908A>G (p.Thr970Ala) c.1789A>G (p.Thr597Ala) c.1051A>G (p.Thr351Ala) c.2572A>G (p.Thr858Ala) c.2836A>G (p.Thr946Ala) c.2129-829A>G (n.2129-829A>G) n.2909A>G n.3117A>G c.2326A>G (p.Thr776Ala) c.1351A>G (p.Thr451Ala) c.2065A>G (p.Thr689Ala) c.3043A>G (p.Thr1015Ala) n.2861A>G n.3069A>G | COSMIC COSMIC |
1 | g.197434771A>T | CA344043439 | CRB1 | c.2908A>T (p.Thr970Ser) c.1789A>T (p.Thr597Ser) c.1051A>T (p.Thr351Ser) c.2572A>T (p.Thr858Ser) c.2836A>T (p.Thr946Ser) c.2129-829A>T (n.2129-829A>T) n.2909A>T n.3117A>T c.2326A>T (p.Thr776Ser) c.1351A>T (p.Thr451Ser) c.2065A>T (p.Thr689Ser) c.3043A>T (p.Thr1015Ser) n.2861A>T n.3069A>T | |
1 | g.197434772C>A | CA344043443 | CRB1 | c.2909C>A (p.Thr970Asn) c.1790C>A (p.Thr597Asn) c.1052C>A (p.Thr351Asn) c.2573C>A (p.Thr858Asn) c.2837C>A (p.Thr946Asn) c.2129-828C>A (n.2129-828C>A) n.2910C>A n.3118C>A c.2327C>A (p.Thr776Asn) c.1352C>A (p.Thr451Asn) c.2066C>A (p.Thr689Asn) c.3044C>A (p.Thr1015Asn) n.2862C>A n.3070C>A | |
1 | g.197434772C= | CA1218068660 | CRB1 | c.2909C= (p.Thr970=) c.1790C= (p.Thr597=) c.1052C= (p.Thr351=) c.2573C= (p.Thr858=) c.2837C= (p.Thr946=) c.2129-828C= (n.2129-828C=) n.2910C= n.3118C= c.2327C= (p.Thr776=) c.1352C= (p.Thr451=) c.2066C= (p.Thr689=) c.3044C= (p.Thr1015=) n.2862C= n.3070C= | |
1 | g.197434772C>G | CA344043456 | CRB1 | c.2909C>G (p.Thr970Ser) c.1790C>G (p.Thr597Ser) c.1052C>G (p.Thr351Ser) c.2573C>G (p.Thr858Ser) c.2837C>G (p.Thr946Ser) c.2129-828C>G (n.2129-828C>G) n.2910C>G n.3118C>G c.2327C>G (p.Thr776Ser) c.1352C>G (p.Thr451Ser) c.2066C>G (p.Thr689Ser) c.3044C>G (p.Thr1015Ser) n.2862C>G n.3070C>G | |
1 | g.197434772C>T | CA1312245 | CRB1 | c.2909C>T (p.Thr970Ile) c.1790C>T (p.Thr597Ile) c.1052C>T (p.Thr351Ile) c.2573C>T (p.Thr858Ile) c.2837C>T (p.Thr946Ile) c.2129-828C>T (n.2129-828C>T) n.2910C>T n.3118C>T c.2327C>T (p.Thr776Ile) c.1352C>T (p.Thr451Ile) c.2066C>T (p.Thr689Ile) c.3044C>T (p.Thr1015Ile) n.2862C>T n.3070C>T | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.197434773C>A | CA422672535 | CRB1 | c.2910C>A (p.Thr970=) c.1791C>A (p.Thr597=) c.1053C>A (p.Thr351=) c.2574C>A (p.Thr858=) c.2838C>A (p.Thr946=) c.2129-827C>A (n.2129-827C>A) n.2911C>A n.3119C>A c.2328C>A (p.Thr776=) c.1353C>A (p.Thr451=) c.2067C>A (p.Thr689=) c.3045C>A (p.Thr1015=) n.2863C>A n.3071C>A | |
1 | g.197434773C>G | CA422672536 | CRB1 | c.2910C>G (p.Thr970=) c.1791C>G (p.Thr597=) c.1053C>G (p.Thr351=) c.2574C>G (p.Thr858=) c.2838C>G (p.Thr946=) c.2129-827C>G (n.2129-827C>G) n.2911C>G n.3119C>G c.2328C>G (p.Thr776=) c.1353C>G (p.Thr451=) c.2067C>G (p.Thr689=) c.3045C>G (p.Thr1015=) n.2863C>G n.3071C>G | |
1 | g.197434773C>T | CA422672537 | CRB1 | c.2910C>T (p.Thr970=) c.1791C>T (p.Thr597=) c.1053C>T (p.Thr351=) c.2574C>T (p.Thr858=) c.2838C>T (p.Thr946=) c.2129-827C>T (n.2129-827C>T) n.2911C>T n.3119C>T c.2328C>T (p.Thr776=) c.1353C>T (p.Thr451=) c.2067C>T (p.Thr689=) c.3045C>T (p.Thr1015=) n.2863C>T n.3071C>T | |
1 | g.197434774A>C | CA422672538 | CRB1 | c.2911A>C (p.Arg971=) c.1792A>C (p.Arg598=) c.1054A>C (p.Arg352=) c.2575A>C (p.Arg859=) c.2839A>C (p.Arg947=) c.2129-826A>C (n.2129-826A>C) n.2912A>C n.3120A>C c.2329A>C (p.Arg777=) c.1354A>C (p.Arg452=) c.2068A>C (p.Arg690=) c.3046A>C (p.Arg1016=) n.2864A>C n.3072A>C | |
1 | g.197434774A>G | CA344043463 | CRB1 | c.2911A>G (p.Arg971Gly) c.1792A>G (p.Arg598Gly) c.1054A>G (p.Arg352Gly) c.2575A>G (p.Arg859Gly) c.2839A>G (p.Arg947Gly) c.2129-826A>G (n.2129-826A>G) n.2912A>G n.3120A>G c.2329A>G (p.Arg777Gly) c.1354A>G (p.Arg452Gly) c.2068A>G (p.Arg690Gly) c.3046A>G (p.Arg1016Gly) n.2864A>G n.3072A>G | gnomAD v4 |
1 | g.197434774A>T | CA344043468 | CRB1 | c.2911A>T (p.Arg971Ter) c.1792A>T (p.Arg598Ter) c.1054A>T (p.Arg352Ter) c.2575A>T (p.Arg859Ter) c.2839A>T (p.Arg947Ter) c.2129-826A>T (n.2129-826A>T) n.2912A>T n.3120A>T c.2329A>T (p.Arg777Ter) c.1354A>T (p.Arg452Ter) c.2068A>T (p.Arg690Ter) c.3046A>T (p.Arg1016Ter) n.2864A>T n.3072A>T | |
1 | g.197434775G>A | CA344043472 | CRB1 | c.2912G>A (p.Arg971Lys) c.1793G>A (p.Arg598Lys) c.1055G>A (p.Arg352Lys) c.2576G>A (p.Arg859Lys) c.2840G>A (p.Arg947Lys) c.2129-825G>A (n.2129-825G>A) n.2913G>A n.3121G>A c.2330G>A (p.Arg777Lys) c.1355G>A (p.Arg452Lys) c.2069G>A (p.Arg690Lys) c.3047G>A (p.Arg1016Lys) n.2865G>A n.3073G>A | dbSNP |
1 | g.197434775G>C | CA344043473 | CRB1 | c.2912G>C (p.Arg971Thr) c.1793G>C (p.Arg598Thr) c.1055G>C (p.Arg352Thr) c.2576G>C (p.Arg859Thr) c.2840G>C (p.Arg947Thr) c.2129-825G>C (n.2129-825G>C) n.2913G>C n.3121G>C c.2330G>C (p.Arg777Thr) c.1355G>C (p.Arg452Thr) c.2069G>C (p.Arg690Thr) c.3047G>C (p.Arg1016Thr) n.2865G>C n.3073G>C | |
1 | g.197434775G= | CA1218068661 | CRB1 | c.2912G= (p.Arg971=) c.1793G= (p.Arg598=) c.1055G= (p.Arg352=) c.2576G= (p.Arg859=) c.2840G= (p.Arg947=) c.2129-825G= (n.2129-825G=) n.2913G= n.3121G= c.2330G= (p.Arg777=) c.1355G= (p.Arg452=) c.2069G= (p.Arg690=) c.3047G= (p.Arg1016=) n.2865G= n.3073G= | |
1 | g.197434775G>T | CA344043474 | CRB1 | c.2912G>T (p.Arg971Ile) c.1793G>T (p.Arg598Ile) c.1055G>T (p.Arg352Ile) c.2576G>T (p.Arg859Ile) c.2840G>T (p.Arg947Ile) c.2129-825G>T (n.2129-825G>T) n.2913G>T n.3121G>T c.2330G>T (p.Arg777Ile) c.1355G>T (p.Arg452Ile) c.2069G>T (p.Arg690Ile) c.3047G>T (p.Arg1016Ile) n.2865G>T n.3073G>T | |
1 | g.197434776A>C | CA344043475 | CRB1 | c.2913A>C (p.Arg971Ser) c.1794A>C (p.Arg598Ser) c.1056A>C (p.Arg352Ser) c.2577A>C (p.Arg859Ser) c.2841A>C (p.Arg947Ser) c.2129-824A>C (n.2129-824A>C) n.2914A>C n.3122A>C c.2331A>C (p.Arg777Ser) c.1356A>C (p.Arg452Ser) c.2070A>C (p.Arg690Ser) c.3048A>C (p.Arg1016Ser) n.2866A>C n.3074A>C | |
1 | g.197434776A>G | CA422672539 | CRB1 | c.2913A>G (p.Arg971=) c.1794A>G (p.Arg598=) c.1056A>G (p.Arg352=) c.2577A>G (p.Arg859=) c.2841A>G (p.Arg947=) c.2129-824A>G (n.2129-824A>G) n.2914A>G n.3122A>G c.2331A>G (p.Arg777=) c.1356A>G (p.Arg452=) c.2070A>G (p.Arg690=) c.3048A>G (p.Arg1016=) n.2866A>G n.3074A>G | |
1 | g.197434776A>T | CA344043476 | CRB1 | c.2913A>T (p.Arg971Ser) c.1794A>T (p.Arg598Ser) c.1056A>T (p.Arg352Ser) c.2577A>T (p.Arg859Ser) c.2841A>T (p.Arg947Ser) c.2129-824A>T (n.2129-824A>T) n.2914A>T n.3122A>T c.2331A>T (p.Arg777Ser) c.1356A>T (p.Arg452Ser) c.2070A>T (p.Arg690Ser) c.3048A>T (p.Arg1016Ser) n.2866A>T n.3074A>T | |
1 | g.197434777G>A | CA344043487 | CRB1 | c.2914G>A (p.Glu972Lys) c.1795G>A (p.Glu599Lys) c.1057G>A (p.Glu353Lys) c.2578G>A (p.Glu860Lys) c.2842G>A (p.Glu948Lys) c.2129-823G>A (n.2129-823G>A) n.2915G>A n.3123G>A c.2332G>A (p.Glu778Lys) c.1357G>A (p.Glu453Lys) c.2071G>A (p.Glu691Lys) c.3049G>A (p.Glu1017Lys) n.2867G>A n.3075G>A | |
1 | g.197434777G>C | CA344043489 | CRB1 | c.2914G>C (p.Glu972Gln) c.1795G>C (p.Glu599Gln) c.1057G>C (p.Glu353Gln) c.2578G>C (p.Glu860Gln) c.2842G>C (p.Glu948Gln) c.2129-823G>C (n.2129-823G>C) n.2915G>C n.3123G>C c.2332G>C (p.Glu778Gln) c.1357G>C (p.Glu453Gln) c.2071G>C (p.Glu691Gln) c.3049G>C (p.Glu1017Gln) n.2867G>C n.3075G>C | ClinVar dbSNP |
1 | g.197434777G= | CA1218068662 | CRB1 | c.2914G= (p.Glu972=) c.1795G= (p.Glu599=) c.1057G= (p.Glu353=) c.2578G= (p.Glu860=) c.2842G= (p.Glu948=) c.2129-823G= (n.2129-823G=) n.2915G= n.3123G= c.2332G= (p.Glu778=) c.1357G= (p.Glu453=) c.2071G= (p.Glu691=) c.3049G= (p.Glu1017=) n.2867G= n.3075G= | |
1 | g.197434777G>T | CA344043483 | CRB1 | c.2914G>T (p.Glu972Ter) c.1795G>T (p.Glu599Ter) c.1057G>T (p.Glu353Ter) c.2578G>T (p.Glu860Ter) c.2842G>T (p.Glu948Ter) c.2129-823G>T (n.2129-823G>T) n.2915G>T n.3123G>T c.2332G>T (p.Glu778Ter) c.1357G>T (p.Glu453Ter) c.2071G>T (p.Glu691Ter) c.3049G>T (p.Glu1017Ter) n.2867G>T n.3075G>T | ClinVar dbSNP COSMIC |
1 | g.197434778A>C | CA344043494 | CRB1 | c.2915A>C (p.Glu972Ala) c.1796A>C (p.Glu599Ala) c.1058A>C (p.Glu353Ala) c.2579A>C (p.Glu860Ala) c.2843A>C (p.Glu948Ala) c.2129-822A>C (n.2129-822A>C) n.2916A>C n.3124A>C c.2333A>C (p.Glu778Ala) c.1358A>C (p.Glu453Ala) c.2072A>C (p.Glu691Ala) c.3050A>C (p.Glu1017Ala) n.2868A>C n.3076A>C | |
1 | g.197434778A>G | CA344043499 | CRB1 | c.2915A>G (p.Glu972Gly) c.1796A>G (p.Glu599Gly) c.1058A>G (p.Glu353Gly) c.2579A>G (p.Glu860Gly) c.2843A>G (p.Glu948Gly) c.2129-822A>G (n.2129-822A>G) n.2916A>G n.3124A>G c.2333A>G (p.Glu778Gly) c.1358A>G (p.Glu453Gly) c.2072A>G (p.Glu691Gly) c.3050A>G (p.Glu1017Gly) n.2868A>G n.3076A>G | gnomAD v4 COSMIC |
1 | g.197434778A>T | CA344043501 | CRB1 | c.2915A>T (p.Glu972Val) c.1796A>T (p.Glu599Val) c.1058A>T (p.Glu353Val) c.2579A>T (p.Glu860Val) c.2843A>T (p.Glu948Val) c.2129-822A>T (n.2129-822A>T) n.2916A>T n.3124A>T c.2333A>T (p.Glu778Val) c.1358A>T (p.Glu453Val) c.2072A>T (p.Glu691Val) c.3050A>T (p.Glu1017Val) n.2868A>T n.3076A>T | |
1 | g.197434779A= | CA1218068663 | CRB1 | c.2916A= (p.Glu972=) c.1797A= (p.Glu599=) c.1059A= (p.Glu353=) c.2580A= (p.Glu860=) c.2844A= (p.Glu948=) c.2129-821A= (n.2129-821A=) n.2917A= n.3125A= c.2334A= (p.Glu778=) c.1359A= (p.Glu453=) c.2073A= (p.Glu691=) c.3051A= (p.Glu1017=) n.2869A= n.3077A= | |
1 | g.197434779A>C | CA344043504 | CRB1 | c.2916A>C (p.Glu972Asp) c.1797A>C (p.Glu599Asp) c.1059A>C (p.Glu353Asp) c.2580A>C (p.Glu860Asp) c.2844A>C (p.Glu948Asp) c.2129-821A>C (n.2129-821A>C) n.2917A>C n.3125A>C c.2334A>C (p.Glu778Asp) c.1359A>C (p.Glu453Asp) c.2073A>C (p.Glu691Asp) c.3051A>C (p.Glu1017Asp) n.2869A>C n.3077A>C | |
1 | g.197434779A>G | CA422672540 | CRB1 | c.2916A>G (p.Glu972=) c.1797A>G (p.Glu599=) c.1059A>G (p.Glu353=) c.2580A>G (p.Glu860=) c.2844A>G (p.Glu948=) c.2129-821A>G (n.2129-821A>G) n.2917A>G n.3125A>G c.2334A>G (p.Glu778=) c.1359A>G (p.Glu453=) c.2073A>G (p.Glu691=) c.3051A>G (p.Glu1017=) n.2869A>G n.3077A>G | dbSNP |
1 | g.197434779A>T | CA344043506 | CRB1 | c.2916A>T (p.Glu972Asp) c.1797A>T (p.Glu599Asp) c.1059A>T (p.Glu353Asp) c.2580A>T (p.Glu860Asp) c.2844A>T (p.Glu948Asp) c.2129-821A>T (n.2129-821A>T) n.2917A>T n.3125A>T c.2334A>T (p.Glu778Asp) c.1359A>T (p.Glu453Asp) c.2073A>T (p.Glu691Asp) c.3051A>T (p.Glu1017Asp) n.2869A>T n.3077A>T | |
1 | g.197434780C>A | CA344043510 | CRB1 | c.2917C>A (p.Leu973Ile) c.1798C>A (p.Leu600Ile) c.1060C>A (p.Leu354Ile) c.2581C>A (p.Leu861Ile) c.2845C>A (p.Leu949Ile) c.2129-820C>A (n.2129-820C>A) n.2918C>A n.3126C>A c.2335C>A (p.Leu779Ile) c.1360C>A (p.Leu454Ile) c.2074C>A (p.Leu692Ile) c.3052C>A (p.Leu1018Ile) n.2870C>A n.3078C>A | gnomAD v4 |
1 | g.197434780C= | CA1218068664 | CRB1 | c.2917C= (p.Leu973=) c.1798C= (p.Leu600=) c.1060C= (p.Leu354=) c.2581C= (p.Leu861=) c.2845C= (p.Leu949=) c.2129-820C= (n.2129-820C=) n.2918C= n.3126C= c.2335C= (p.Leu779=) c.1360C= (p.Leu454=) c.2074C= (p.Leu692=) c.3052C= (p.Leu1018=) n.2870C= n.3078C= | |
1 | g.197434780C>G | CA10608724 | CRB1 | c.2917C>G (p.Leu973Val) c.1798C>G (p.Leu600Val) c.1060C>G (p.Leu354Val) c.2581C>G (p.Leu861Val) c.2845C>G (p.Leu949Val) c.2129-820C>G (n.2129-820C>G) n.2918C>G n.3126C>G c.2335C>G (p.Leu779Val) c.1360C>G (p.Leu454Val) c.2074C>G (p.Leu692Val) c.3052C>G (p.Leu1018Val) n.2870C>G n.3078C>G | ClinVar dbSNP |
1 | g.197434780C>T | CA344043516 | CRB1 | c.2917C>T (p.Leu973Phe) c.1798C>T (p.Leu600Phe) c.1060C>T (p.Leu354Phe) c.2581C>T (p.Leu861Phe) c.2845C>T (p.Leu949Phe) c.2129-820C>T (n.2129-820C>T) n.2918C>T n.3126C>T c.2335C>T (p.Leu779Phe) c.1360C>T (p.Leu454Phe) c.2074C>T (p.Leu692Phe) c.3052C>T (p.Leu1018Phe) n.2870C>T n.3078C>T | |
1 | g.197434781T>A | CA344043521 | CRB1 | c.2918T>A (p.Leu973His) c.1799T>A (p.Leu600His) c.1061T>A (p.Leu354His) c.2582T>A (p.Leu861His) c.2846T>A (p.Leu949His) c.2129-819T>A (n.2129-819T>A) n.2919T>A n.3127T>A c.2336T>A (p.Leu779His) c.1361T>A (p.Leu454His) c.2075T>A (p.Leu692His) c.3053T>A (p.Leu1018His) n.2871T>A n.3079T>A | |
1 | g.197434781T>C | CA344043533 | CRB1 | c.2918T>C (p.Leu973Pro) c.1799T>C (p.Leu600Pro) c.1061T>C (p.Leu354Pro) c.2582T>C (p.Leu861Pro) c.2846T>C (p.Leu949Pro) c.2129-819T>C (n.2129-819T>C) n.2919T>C n.3127T>C c.2336T>C (p.Leu779Pro) c.1361T>C (p.Leu454Pro) c.2075T>C (p.Leu692Pro) c.3053T>C (p.Leu1018Pro) n.2871T>C n.3079T>C | |
1 | g.197434781T>G | CA344043534 | CRB1 | c.2918T>G (p.Leu973Arg) c.1799T>G (p.Leu600Arg) c.1061T>G (p.Leu354Arg) c.2582T>G (p.Leu861Arg) c.2846T>G (p.Leu949Arg) c.2129-819T>G (n.2129-819T>G) n.2919T>G n.3127T>G c.2336T>G (p.Leu779Arg) c.1361T>G (p.Leu454Arg) c.2075T>G (p.Leu692Arg) c.3053T>G (p.Leu1018Arg) n.2871T>G n.3079T>G | |
1 | g.197434782C>A | CA422672541 | CRB1 | c.2919C>A (p.Leu973=) c.1800C>A (p.Leu600=) c.1062C>A (p.Leu354=) c.2583C>A (p.Leu861=) c.2847C>A (p.Leu949=) c.2129-818C>A (n.2129-818C>A) n.2920C>A n.3128C>A c.2337C>A (p.Leu779=) c.1362C>A (p.Leu454=) c.2076C>A (p.Leu692=) c.3054C>A (p.Leu1018=) n.2872C>A n.3080C>A | gnomAD v4 |
1 | g.197434782C= | CA1218068665 | CRB1 | c.2919C= (p.Leu973=) c.1800C= (p.Leu600=) c.1062C= (p.Leu354=) c.2583C= (p.Leu861=) c.2847C= (p.Leu949=) c.2129-818C= (n.2129-818C=) n.2920C= n.3128C= c.2337C= (p.Leu779=) c.1362C= (p.Leu454=) c.2076C= (p.Leu692=) c.3054C= (p.Leu1018=) n.2872C= n.3080C= | |
1 | g.197434782C>G | CA422672542 | CRB1 | c.2919C>G (p.Leu973=) c.1800C>G (p.Leu600=) c.1062C>G (p.Leu354=) c.2583C>G (p.Leu861=) c.2847C>G (p.Leu949=) c.2129-818C>G (n.2129-818C>G) n.2920C>G n.3128C>G c.2337C>G (p.Leu779=) c.1362C>G (p.Leu454=) c.2076C>G (p.Leu692=) c.3054C>G (p.Leu1018=) n.2872C>G n.3080C>G | |
1 | g.197434782C>T | CA1312246 | CRB1 | c.2919C>T (p.Leu973=) c.1800C>T (p.Leu600=) c.1062C>T (p.Leu354=) c.2583C>T (p.Leu861=) c.2847C>T (p.Leu949=) c.2129-818C>T (n.2129-818C>T) n.2920C>T n.3128C>T c.2337C>T (p.Leu779=) c.1362C>T (p.Leu454=) c.2076C>T (p.Leu692=) c.3054C>T (p.Leu1018=) n.2872C>T n.3080C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434783A>C | CA344043547 | CRB1 | c.2920A>C (p.Thr974Pro) c.1801A>C (p.Thr601Pro) c.1063A>C (p.Thr355Pro) c.2584A>C (p.Thr862Pro) c.2848A>C (p.Thr950Pro) c.2129-817A>C (n.2129-817A>C) n.2921A>C n.3129A>C c.2338A>C (p.Thr780Pro) c.1363A>C (p.Thr455Pro) c.2077A>C (p.Thr693Pro) c.3055A>C (p.Thr1019Pro) n.2873A>C n.3081A>C | |
1 | g.197434783A>G | CA344043537 | CRB1 | c.2920A>G (p.Thr974Ala) c.1801A>G (p.Thr601Ala) c.1063A>G (p.Thr355Ala) c.2584A>G (p.Thr862Ala) c.2848A>G (p.Thr950Ala) c.2129-817A>G (n.2129-817A>G) n.2921A>G n.3129A>G c.2338A>G (p.Thr780Ala) c.1363A>G (p.Thr455Ala) c.2077A>G (p.Thr693Ala) c.3055A>G (p.Thr1019Ala) n.2873A>G n.3081A>G | |
1 | g.197434783A>T | CA344043544 | CRB1 | c.2920A>T (p.Thr974Ser) c.1801A>T (p.Thr601Ser) c.1063A>T (p.Thr355Ser) c.2584A>T (p.Thr862Ser) c.2848A>T (p.Thr950Ser) c.2129-817A>T (n.2129-817A>T) n.2921A>T n.3129A>T c.2338A>T (p.Thr780Ser) c.1363A>T (p.Thr455Ser) c.2077A>T (p.Thr693Ser) c.3055A>T (p.Thr1019Ser) n.2873A>T n.3081A>T | |
1 | g.197434784C>A | CA344043555 | CRB1 | c.2921C>A (p.Thr974Asn) c.1802C>A (p.Thr601Asn) c.1064C>A (p.Thr355Asn) c.2585C>A (p.Thr862Asn) c.2849C>A (p.Thr950Asn) c.2129-816C>A (n.2129-816C>A) n.2922C>A n.3130C>A c.2339C>A (p.Thr780Asn) c.1364C>A (p.Thr455Asn) c.2078C>A (p.Thr693Asn) c.3056C>A (p.Thr1019Asn) n.2874C>A n.3082C>A | COSMIC |
1 | g.197434784C= | CA1147900844 | CRB1 | c.2921C= (p.Thr974=) c.1802C= (p.Thr601=) c.1064C= (p.Thr355=) c.2585C= (p.Thr862=) c.2849C= (p.Thr950=) c.2129-816C= (n.2129-816C=) n.2922C= n.3130C= c.2339C= (p.Thr780=) c.1364C= (p.Thr455=) c.2078C= (p.Thr693=) c.3056C= (p.Thr1019=) n.2874C= n.3082C= | |
1 | g.197434784C>G | CA1312247 | CRB1 | c.2921C>G (p.Thr974Ser) c.1802C>G (p.Thr601Ser) c.1064C>G (p.Thr355Ser) c.2585C>G (p.Thr862Ser) c.2849C>G (p.Thr950Ser) c.2129-816C>G (n.2129-816C>G) n.2922C>G n.3130C>G c.2339C>G (p.Thr780Ser) c.1364C>G (p.Thr455Ser) c.2078C>G (p.Thr693Ser) c.3056C>G (p.Thr1019Ser) n.2874C>G n.3082C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197434784C>T | CA1312248 | CRB1 | c.2921C>T (p.Thr974Ile) c.1802C>T (p.Thr601Ile) c.1064C>T (p.Thr355Ile) c.2585C>T (p.Thr862Ile) c.2849C>T (p.Thr950Ile) c.2129-816C>T (n.2129-816C>T) n.2922C>T n.3130C>T c.2339C>T (p.Thr780Ile) c.1364C>T (p.Thr455Ile) c.2078C>T (p.Thr693Ile) c.3056C>T (p.Thr1019Ile) n.2874C>T n.3082C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434785C>A | CA422672543 | CRB1 | c.2922C>A (p.Thr974=) c.1803C>A (p.Thr601=) c.1065C>A (p.Thr355=) c.2586C>A (p.Thr862=) c.2850C>A (p.Thr950=) c.2129-815C>A (n.2129-815C>A) n.2923C>A n.3131C>A c.2340C>A (p.Thr780=) c.1365C>A (p.Thr455=) c.2079C>A (p.Thr693=) c.3057C>A (p.Thr1019=) n.2875C>A n.3083C>A | |
1 | g.197434785C= | CA1148399697 | CRB1 | c.2922C= (p.Thr974=) c.1803C= (p.Thr601=) c.1065C= (p.Thr355=) c.2586C= (p.Thr862=) c.2850C= (p.Thr950=) c.2129-815C= (n.2129-815C=) n.2923C= n.3131C= c.2340C= (p.Thr780=) c.1365C= (p.Thr455=) c.2079C= (p.Thr693=) c.3057C= (p.Thr1019=) n.2875C= n.3083C= | |
1 | g.197434785C>G | CA1312249 | CRB1 | c.2922C>G (p.Thr974=) c.1803C>G (p.Thr601=) c.1065C>G (p.Thr355=) c.2586C>G (p.Thr862=) c.2850C>G (p.Thr950=) c.2129-815C>G (n.2129-815C>G) n.2923C>G n.3131C>G c.2340C>G (p.Thr780=) c.1365C>G (p.Thr455=) c.2079C>G (p.Thr693=) c.3057C>G (p.Thr1019=) n.2875C>G n.3083C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434785C>T | CA422672544 | CRB1 | c.2922C>T (p.Thr974=) c.1803C>T (p.Thr601=) c.1065C>T (p.Thr355=) c.2586C>T (p.Thr862=) c.2850C>T (p.Thr950=) c.2129-815C>T (n.2129-815C>T) n.2923C>T n.3131C>T c.2340C>T (p.Thr780=) c.1365C>T (p.Thr455=) c.2079C>T (p.Thr693=) c.3057C>T (p.Thr1019=) n.2875C>T n.3083C>T | |
1 | g.197434786A>C | CA344043596 | CRB1 | c.2923A>C (p.Asn975His) c.1804A>C (p.Asn602His) c.1066A>C (p.Asn356His) c.2587A>C (p.Asn863His) c.2851A>C (p.Asn951His) c.2129-814A>C (n.2129-814A>C) n.2924A>C n.3132A>C c.2341A>C (p.Asn781His) c.1366A>C (p.Asn456His) c.2080A>C (p.Asn694His) c.3058A>C (p.Asn1020His) n.2876A>C n.3084A>C | |
1 | g.197434786A>G | CA344043598 | CRB1 | c.2923A>G (p.Asn975Asp) c.1804A>G (p.Asn602Asp) c.1066A>G (p.Asn356Asp) c.2587A>G (p.Asn863Asp) c.2851A>G (p.Asn951Asp) c.2129-814A>G (n.2129-814A>G) n.2924A>G n.3132A>G c.2341A>G (p.Asn781Asp) c.1366A>G (p.Asn456Asp) c.2080A>G (p.Asn694Asp) c.3058A>G (p.Asn1020Asp) n.2876A>G n.3084A>G | |
1 | g.197434786A>T | CA344043599 | CRB1 | c.2923A>T (p.Asn975Tyr) c.1804A>T (p.Asn602Tyr) c.1066A>T (p.Asn356Tyr) c.2587A>T (p.Asn863Tyr) c.2851A>T (p.Asn951Tyr) c.2129-814A>T (n.2129-814A>T) n.2924A>T n.3132A>T c.2341A>T (p.Asn781Tyr) c.1366A>T (p.Asn456Tyr) c.2080A>T (p.Asn694Tyr) c.3058A>T (p.Asn1020Tyr) n.2876A>T n.3084A>T | |
1 | g.197434787A>C | CA344043611 | CRB1 | c.2924A>C (p.Asn975Thr) c.1805A>C (p.Asn602Thr) c.1067A>C (p.Asn356Thr) c.2588A>C (p.Asn863Thr) c.2852A>C (p.Asn951Thr) c.2129-813A>C (n.2129-813A>C) n.2925A>C n.3133A>C c.2342A>C (p.Asn781Thr) c.1367A>C (p.Asn456Thr) c.2081A>C (p.Asn694Thr) c.3059A>C (p.Asn1020Thr) n.2877A>C n.3085A>C | |
1 | g.197434787A>G | CA344043612 | CRB1 | c.2924A>G (p.Asn975Ser) c.1805A>G (p.Asn602Ser) c.1067A>G (p.Asn356Ser) c.2588A>G (p.Asn863Ser) c.2852A>G (p.Asn951Ser) c.2129-813A>G (n.2129-813A>G) n.2925A>G n.3133A>G c.2342A>G (p.Asn781Ser) c.1367A>G (p.Asn456Ser) c.2081A>G (p.Asn694Ser) c.3059A>G (p.Asn1020Ser) n.2877A>G n.3085A>G | gnomAD v4 |
1 | g.197434787A>T | CA344043616 | CRB1 | c.2924A>T (p.Asn975Ile) c.1805A>T (p.Asn602Ile) c.1067A>T (p.Asn356Ile) c.2588A>T (p.Asn863Ile) c.2852A>T (p.Asn951Ile) c.2129-813A>T (n.2129-813A>T) n.2925A>T n.3133A>T c.2342A>T (p.Asn781Ile) c.1367A>T (p.Asn456Ile) c.2081A>T (p.Asn694Ile) c.3059A>T (p.Asn1020Ile) n.2877A>T n.3085A>T | |
1 | g.197434787_197434788insACACACC | CA2747248274 | CRB1 | c.2924_2925insACACACC (p.Asn975LysfsTer25) c.1805_1806insACACACC (p.Asn602LysfsTer25) c.1067_1068insACACACC (p.Asn356LysfsTer25) c.2588_2589insACACACC (p.Asn863LysfsTer25) c.2852_2853insACACACC (p.Asn951LysfsTer25) c.2129-813_2129-812insACACACC (n.2129-813_2129-812insACACACC) n.2925_2926insACACACC n.3133_3134insACACACC c.2342_2343insACACACC (p.Asn781LysfsTer25) c.1367_1368insACACACC (p.Asn456LysfsTer25) c.2081_2082insACACACC (p.Asn694LysfsTer25) c.3059_3060insACACACC (p.Asn1020LysfsTer25) n.2877_2878insACACACC n.3085_3086insACACACC | |
1 | g.197434788T>A | CA344043620 | CRB1 | c.2925T>A (p.Asn975Lys) c.1806T>A (p.Asn602Lys) c.1068T>A (p.Asn356Lys) c.2589T>A (p.Asn863Lys) c.2853T>A (p.Asn951Lys) c.2129-812T>A (n.2129-812T>A) n.2926T>A n.3134T>A c.2343T>A (p.Asn781Lys) c.1368T>A (p.Asn456Lys) c.2082T>A (p.Asn694Lys) c.3060T>A (p.Asn1020Lys) n.2878T>A n.3086T>A | |
1 | g.197434788T>C | CA422672545 | CRB1 | c.2925T>C (p.Asn975=) c.1806T>C (p.Asn602=) c.1068T>C (p.Asn356=) c.2589T>C (p.Asn863=) c.2853T>C (p.Asn951=) c.2129-812T>C (n.2129-812T>C) n.2926T>C n.3134T>C c.2343T>C (p.Asn781=) c.1368T>C (p.Asn456=) c.2082T>C (p.Asn694=) c.3060T>C (p.Asn1020=) n.2878T>C n.3086T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434788T>G | CA344043624 | CRB1 | c.2925T>G (p.Asn975Lys) c.1806T>G (p.Asn602Lys) c.1068T>G (p.Asn356Lys) c.2589T>G (p.Asn863Lys) c.2853T>G (p.Asn951Lys) c.2129-812T>G (n.2129-812T>G) n.2926T>G n.3134T>G c.2343T>G (p.Asn781Lys) c.1368T>G (p.Asn456Lys) c.2082T>G (p.Asn694Lys) c.3060T>G (p.Asn1020Lys) n.2878T>G n.3086T>G | |
1 | g.197434788T= | CA1218068666 | CRB1 | c.2925T= (p.Asn975=) c.1806T= (p.Asn602=) c.1068T= (p.Asn356=) c.2589T= (p.Asn863=) c.2853T= (p.Asn951=) c.2129-812T= (n.2129-812T=) n.2926T= n.3134T= c.2343T= (p.Asn781=) c.1368T= (p.Asn456=) c.2082T= (p.Asn694=) c.3060T= (p.Asn1020=) n.2878T= n.3086T= | |
1 | g.197434789A= | CA1218068667 | CRB1 | c.2926A= (p.Ile976=) c.1807A= (p.Ile603=) c.1069A= (p.Ile357=) c.2590A= (p.Ile864=) c.2854A= (p.Ile952=) c.2129-811A= (n.2129-811A=) n.2927A= n.3135A= c.2344A= (p.Ile782=) c.1369A= (p.Ile457=) c.2083A= (p.Ile695=) c.3061A= (p.Ile1021=) n.2879A= n.3087A= | |
1 | g.197434789A>C | CA344043650 | CRB1 | c.2926A>C (p.Ile976Leu) c.1807A>C (p.Ile603Leu) c.1069A>C (p.Ile357Leu) c.2590A>C (p.Ile864Leu) c.2854A>C (p.Ile952Leu) c.2129-811A>C (n.2129-811A>C) n.2927A>C n.3135A>C c.2344A>C (p.Ile782Leu) c.1369A>C (p.Ile457Leu) c.2083A>C (p.Ile695Leu) c.3061A>C (p.Ile1021Leu) n.2879A>C n.3087A>C | |
1 | g.197434789A>G | CA1312250 | CRB1 | c.2926A>G (p.Ile976Val) c.1807A>G (p.Ile603Val) c.1069A>G (p.Ile357Val) c.2590A>G (p.Ile864Val) c.2854A>G (p.Ile952Val) c.2129-811A>G (n.2129-811A>G) n.2927A>G n.3135A>G c.2344A>G (p.Ile782Val) c.1369A>G (p.Ile457Val) c.2083A>G (p.Ile695Val) c.3061A>G (p.Ile1021Val) n.2879A>G n.3087A>G | dbSNP ExAC gnomAD v2 |
1 | g.197434789A>T | CA344043630 | CRB1 | c.2926A>T (p.Ile976Phe) c.1807A>T (p.Ile603Phe) c.1069A>T (p.Ile357Phe) c.2590A>T (p.Ile864Phe) c.2854A>T (p.Ile952Phe) c.2129-811A>T (n.2129-811A>T) n.2927A>T n.3135A>T c.2344A>T (p.Ile782Phe) c.1369A>T (p.Ile457Phe) c.2083A>T (p.Ile695Phe) c.3061A>T (p.Ile1021Phe) n.2879A>T n.3087A>T | |
1 | g.197434790T>A | CA344043658 | CRB1 | c.2927T>A (p.Ile976Asn) c.1808T>A (p.Ile603Asn) c.1070T>A (p.Ile357Asn) c.2591T>A (p.Ile864Asn) c.2855T>A (p.Ile952Asn) c.2129-810T>A (n.2129-810T>A) n.2928T>A n.3136T>A c.2345T>A (p.Ile782Asn) c.1370T>A (p.Ile457Asn) c.2084T>A (p.Ile695Asn) c.3062T>A (p.Ile1021Asn) n.2880T>A n.3088T>A | |
1 | g.197434790T>C | CA344043666 | CRB1 | c.2927T>C (p.Ile976Thr) c.1808T>C (p.Ile603Thr) c.1070T>C (p.Ile357Thr) c.2591T>C (p.Ile864Thr) c.2855T>C (p.Ile952Thr) c.2129-810T>C (n.2129-810T>C) n.2928T>C n.3136T>C c.2345T>C (p.Ile782Thr) c.1370T>C (p.Ile457Thr) c.2084T>C (p.Ile695Thr) c.3062T>C (p.Ile1021Thr) n.2880T>C n.3088T>C | ClinVar dbSNP |
1 | g.197434790T>G | CA344043662 | CRB1 | c.2927T>G (p.Ile976Ser) c.1808T>G (p.Ile603Ser) c.1070T>G (p.Ile357Ser) c.2591T>G (p.Ile864Ser) c.2855T>G (p.Ile952Ser) c.2129-810T>G (n.2129-810T>G) n.2928T>G n.3136T>G c.2345T>G (p.Ile782Ser) c.1370T>G (p.Ile457Ser) c.2084T>G (p.Ile695Ser) c.3062T>G (p.Ile1021Ser) n.2880T>G n.3088T>G | |
1 | g.197434791C>A | CA422672546 | CRB1 | c.2928C>A (p.Ile976=) c.1809C>A (p.Ile603=) c.1071C>A (p.Ile357=) c.2592C>A (p.Ile864=) c.2856C>A (p.Ile952=) c.2129-809C>A (n.2129-809C>A) n.2929C>A n.3137C>A c.2346C>A (p.Ile782=) c.1371C>A (p.Ile457=) c.2085C>A (p.Ile695=) c.3063C>A (p.Ile1021=) n.2881C>A n.3089C>A | |
1 | g.197434791C>G | CA344043669 | CRB1 | c.2928C>G (p.Ile976Met) c.1809C>G (p.Ile603Met) c.1071C>G (p.Ile357Met) c.2592C>G (p.Ile864Met) c.2856C>G (p.Ile952Met) c.2129-809C>G (n.2129-809C>G) n.2929C>G n.3137C>G c.2346C>G (p.Ile782Met) c.1371C>G (p.Ile457Met) c.2085C>G (p.Ile695Met) c.3063C>G (p.Ile1021Met) n.2881C>G n.3089C>G | |
1 | g.197434791C>T | CA422672547 | CRB1 | c.2928C>T (p.Ile976=) c.1809C>T (p.Ile603=) c.1071C>T (p.Ile357=) c.2592C>T (p.Ile864=) c.2856C>T (p.Ile952=) c.2129-809C>T (n.2129-809C>T) n.2929C>T n.3137C>T c.2346C>T (p.Ile782=) c.1371C>T (p.Ile457=) c.2085C>T (p.Ile695=) c.3063C>T (p.Ile1021=) n.2881C>T n.3089C>T | gnomAD v4 |
1 | g.197434792A= | CA1218068668 | CRB1 | c.2929A= (p.Thr977=) c.1810A= (p.Thr604=) c.1072A= (p.Thr358=) c.2593A= (p.Thr865=) c.2857A= (p.Thr953=) c.2129-808A= (n.2129-808A=) n.2930A= n.3138A= c.2347A= (p.Thr783=) c.1372A= (p.Thr458=) c.2086A= (p.Thr696=) c.3064A= (p.Thr1022=) n.2882A= n.3090A= | |
1 | g.197434792A>C | CA344043672 | CRB1 | c.2929A>C (p.Thr977Pro) c.1810A>C (p.Thr604Pro) c.1072A>C (p.Thr358Pro) c.2593A>C (p.Thr865Pro) c.2857A>C (p.Thr953Pro) c.2129-808A>C (n.2129-808A>C) n.2930A>C n.3138A>C c.2347A>C (p.Thr783Pro) c.1372A>C (p.Thr458Pro) c.2086A>C (p.Thr696Pro) c.3064A>C (p.Thr1022Pro) n.2882A>C n.3090A>C | |
1 | g.197434792A>G | CA344043674 | CRB1 | c.2929A>G (p.Thr977Ala) c.1810A>G (p.Thr604Ala) c.1072A>G (p.Thr358Ala) c.2593A>G (p.Thr865Ala) c.2857A>G (p.Thr953Ala) c.2129-808A>G (n.2129-808A>G) n.2930A>G n.3138A>G c.2347A>G (p.Thr783Ala) c.1372A>G (p.Thr458Ala) c.2086A>G (p.Thr696Ala) c.3064A>G (p.Thr1022Ala) n.2882A>G n.3090A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434792A>T | CA344043678 | CRB1 | c.2929A>T (p.Thr977Ser) c.1810A>T (p.Thr604Ser) c.1072A>T (p.Thr358Ser) c.2593A>T (p.Thr865Ser) c.2857A>T (p.Thr953Ser) c.2129-808A>T (n.2129-808A>T) n.2930A>T n.3138A>T c.2347A>T (p.Thr783Ser) c.1372A>T (p.Thr458Ser) c.2086A>T (p.Thr696Ser) c.3064A>T (p.Thr1022Ser) n.2882A>T n.3090A>T | |
1 | g.197434793C>A | CA344043681 | CRB1 | c.2930C>A (p.Thr977Lys) c.1811C>A (p.Thr604Lys) c.1073C>A (p.Thr358Lys) c.2594C>A (p.Thr865Lys) c.2858C>A (p.Thr953Lys) c.2129-807C>A (n.2129-807C>A) n.2931C>A n.3139C>A c.2348C>A (p.Thr783Lys) c.1373C>A (p.Thr458Lys) c.2087C>A (p.Thr696Lys) c.3065C>A (p.Thr1022Lys) n.2883C>A n.3091C>A | ClinVar dbSNP gnomAD v4 |
1 | g.197434793C= | CA1218068669 | CRB1 | c.2930C= (p.Thr977=) c.1811C= (p.Thr604=) c.1073C= (p.Thr358=) c.2594C= (p.Thr865=) c.2858C= (p.Thr953=) c.2129-807C= (n.2129-807C=) n.2931C= n.3139C= c.2348C= (p.Thr783=) c.1373C= (p.Thr458=) c.2087C= (p.Thr696=) c.3065C= (p.Thr1022=) n.2883C= n.3091C= | |
1 | g.197434793C>G | CA344043685 | CRB1 | c.2930C>G (p.Thr977Arg) c.1811C>G (p.Thr604Arg) c.1073C>G (p.Thr358Arg) c.2594C>G (p.Thr865Arg) c.2858C>G (p.Thr953Arg) c.2129-807C>G (n.2129-807C>G) n.2931C>G n.3139C>G c.2348C>G (p.Thr783Arg) c.1373C>G (p.Thr458Arg) c.2087C>G (p.Thr696Arg) c.3065C>G (p.Thr1022Arg) n.2883C>G n.3091C>G | |
1 | g.197434793C>T | CA344043687 | CRB1 | c.2930C>T (p.Thr977Ile) c.1811C>T (p.Thr604Ile) c.1073C>T (p.Thr358Ile) c.2594C>T (p.Thr865Ile) c.2858C>T (p.Thr953Ile) c.2129-807C>T (n.2129-807C>T) n.2931C>T n.3139C>T c.2348C>T (p.Thr783Ile) c.1373C>T (p.Thr458Ile) c.2087C>T (p.Thr696Ile) c.3065C>T (p.Thr1022Ile) n.2883C>T n.3091C>T | |
1 | g.197434794A= | CA1218068670 | CRB1 | c.2931A= (p.Thr977=) c.1812A= (p.Thr604=) c.1074A= (p.Thr358=) c.2595A= (p.Thr865=) c.2859A= (p.Thr953=) c.2129-806A= (n.2129-806A=) n.2932A= n.3140A= c.2349A= (p.Thr783=) c.1374A= (p.Thr458=) c.2088A= (p.Thr696=) c.3066A= (p.Thr1022=) n.2884A= n.3092A= | |
1 | g.197434794A>C | CA422672548 | CRB1 | c.2931A>C (p.Thr977=) c.1812A>C (p.Thr604=) c.1074A>C (p.Thr358=) c.2595A>C (p.Thr865=) c.2859A>C (p.Thr953=) c.2129-806A>C (n.2129-806A>C) n.2932A>C n.3140A>C c.2349A>C (p.Thr783=) c.1374A>C (p.Thr458=) c.2088A>C (p.Thr696=) c.3066A>C (p.Thr1022=) n.2884A>C n.3092A>C | |
1 | g.197434794A>G | CA1312251 | CRB1 | c.2931A>G (p.Thr977=) c.1812A>G (p.Thr604=) c.1074A>G (p.Thr358=) c.2595A>G (p.Thr865=) c.2859A>G (p.Thr953=) c.2129-806A>G (n.2129-806A>G) n.2932A>G n.3140A>G c.2349A>G (p.Thr783=) c.1374A>G (p.Thr458=) c.2088A>G (p.Thr696=) c.3066A>G (p.Thr1022=) n.2884A>G n.3092A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434794A>T | CA422672549 | CRB1 | c.2931A>T (p.Thr977=) c.1812A>T (p.Thr604=) c.1074A>T (p.Thr358=) c.2595A>T (p.Thr865=) c.2859A>T (p.Thr953=) c.2129-806A>T (n.2129-806A>T) n.2932A>T n.3140A>T c.2349A>T (p.Thr783=) c.1374A>T (p.Thr458=) c.2088A>T (p.Thr696=) c.3066A>T (p.Thr1022=) n.2884A>T n.3092A>T | |
1 | g.197434795T>A | CA344043695 | CRB1 | c.2932T>A (p.Phe978Ile) c.1813T>A (p.Phe605Ile) c.1075T>A (p.Phe359Ile) c.2596T>A (p.Phe866Ile) c.2860T>A (p.Phe954Ile) c.2129-805T>A (n.2129-805T>A) n.2933T>A n.3141T>A c.2350T>A (p.Phe784Ile) c.1375T>A (p.Phe459Ile) c.2089T>A (p.Phe697Ile) c.3067T>A (p.Phe1023Ile) n.2885T>A n.3093T>A | |
1 | g.197434795T>C | CA344043698 | CRB1 | c.2932T>C (p.Phe978Leu) c.1813T>C (p.Phe605Leu) c.1075T>C (p.Phe359Leu) c.2596T>C (p.Phe866Leu) c.2860T>C (p.Phe954Leu) c.2129-805T>C (n.2129-805T>C) n.2933T>C n.3141T>C c.2350T>C (p.Phe784Leu) c.1375T>C (p.Phe459Leu) c.2089T>C (p.Phe697Leu) c.3067T>C (p.Phe1023Leu) n.2885T>C n.3093T>C | |
1 | g.197434795T>G | CA344043703 | CRB1 | c.2932T>G (p.Phe978Val) c.1813T>G (p.Phe605Val) c.1075T>G (p.Phe359Val) c.2596T>G (p.Phe866Val) c.2860T>G (p.Phe954Val) c.2129-805T>G (n.2129-805T>G) n.2933T>G n.3141T>G c.2350T>G (p.Phe784Val) c.1375T>G (p.Phe459Val) c.2089T>G (p.Phe697Val) c.3067T>G (p.Phe1023Val) n.2885T>G n.3093T>G | gnomAD v4 |
1 | g.197434796T>A | CA344043707 | CRB1 | c.2933T>A (p.Phe978Tyr) c.1814T>A (p.Phe605Tyr) c.1076T>A (p.Phe359Tyr) c.2597T>A (p.Phe866Tyr) c.2861T>A (p.Phe954Tyr) c.2129-804T>A (n.2129-804T>A) n.2934T>A n.3142T>A c.2351T>A (p.Phe784Tyr) c.1376T>A (p.Phe459Tyr) c.2090T>A (p.Phe697Tyr) c.3068T>A (p.Phe1023Tyr) n.2886T>A n.3094T>A | |
1 | g.197434796T>C | CA344043705 | CRB1 | c.2933T>C (p.Phe978Ser) c.1814T>C (p.Phe605Ser) c.1076T>C (p.Phe359Ser) c.2597T>C (p.Phe866Ser) c.2861T>C (p.Phe954Ser) c.2129-804T>C (n.2129-804T>C) n.2934T>C n.3142T>C c.2351T>C (p.Phe784Ser) c.1376T>C (p.Phe459Ser) c.2090T>C (p.Phe697Ser) c.3068T>C (p.Phe1023Ser) n.2886T>C n.3094T>C | |
1 | g.197434796T>G | CA344043704 | CRB1 | c.2933T>G (p.Phe978Cys) c.1814T>G (p.Phe605Cys) c.1076T>G (p.Phe359Cys) c.2597T>G (p.Phe866Cys) c.2861T>G (p.Phe954Cys) c.2129-804T>G (n.2129-804T>G) n.2934T>G n.3142T>G c.2351T>G (p.Phe784Cys) c.1376T>G (p.Phe459Cys) c.2090T>G (p.Phe697Cys) c.3068T>G (p.Phe1023Cys) n.2886T>G n.3094T>G | |
1 | g.197434797T>A | CA344043711 | CRB1 | c.2934T>A (p.Phe978Leu) c.1815T>A (p.Phe605Leu) c.1077T>A (p.Phe359Leu) c.2598T>A (p.Phe866Leu) c.2862T>A (p.Phe954Leu) c.2129-803T>A (n.2129-803T>A) n.2935T>A n.3143T>A c.2352T>A (p.Phe784Leu) c.1377T>A (p.Phe459Leu) c.2091T>A (p.Phe697Leu) c.3069T>A (p.Phe1023Leu) n.2887T>A n.3095T>A | |
1 | g.197434797T>C | CA422672550 | CRB1 | c.2934T>C (p.Phe978=) c.1815T>C (p.Phe605=) c.1077T>C (p.Phe359=) c.2598T>C (p.Phe866=) c.2862T>C (p.Phe954=) c.2129-803T>C (n.2129-803T>C) n.2935T>C n.3143T>C c.2352T>C (p.Phe784=) c.1377T>C (p.Phe459=) c.2091T>C (p.Phe697=) c.3069T>C (p.Phe1023=) n.2887T>C n.3095T>C | |
1 | g.197434797T>G | CA344043713 | CRB1 | c.2934T>G (p.Phe978Leu) c.1815T>G (p.Phe605Leu) c.1077T>G (p.Phe359Leu) c.2598T>G (p.Phe866Leu) c.2862T>G (p.Phe954Leu) c.2129-803T>G (n.2129-803T>G) n.2935T>G n.3143T>G c.2352T>G (p.Phe784Leu) c.1377T>G (p.Phe459Leu) c.2091T>G (p.Phe697Leu) c.3069T>G (p.Phe1023Leu) n.2887T>G n.3095T>G | |
1 | g.197434798G>A | CA344043724 | CRB1 | c.2935G>A (p.Gly979Ser) c.1816G>A (p.Gly606Ser) c.1078G>A (p.Gly360Ser) c.2599G>A (p.Gly867Ser) c.2863G>A (p.Gly955Ser) c.2129-802G>A (n.2129-802G>A) n.2936G>A n.3144G>A c.2353G>A (p.Gly785Ser) c.1378G>A (p.Gly460Ser) c.2092G>A (p.Gly698Ser) c.3070G>A (p.Gly1024Ser) n.2888G>A n.3096G>A | |
1 | g.197434798G>C | CA344043729 | CRB1 | c.2935G>C (p.Gly979Arg) c.1816G>C (p.Gly606Arg) c.1078G>C (p.Gly360Arg) c.2599G>C (p.Gly867Arg) c.2863G>C (p.Gly955Arg) c.2129-802G>C (n.2129-802G>C) n.2936G>C n.3144G>C c.2353G>C (p.Gly785Arg) c.1378G>C (p.Gly460Arg) c.2092G>C (p.Gly698Arg) c.3070G>C (p.Gly1024Arg) n.2888G>C n.3096G>C | |
1 | g.197434798G>T | CA344043734 | CRB1 | c.2935G>T (p.Gly979Cys) c.1816G>T (p.Gly606Cys) c.1078G>T (p.Gly360Cys) c.2599G>T (p.Gly867Cys) c.2863G>T (p.Gly955Cys) c.2129-802G>T (n.2129-802G>T) n.2936G>T n.3144G>T c.2353G>T (p.Gly785Cys) c.1378G>T (p.Gly460Cys) c.2092G>T (p.Gly698Cys) c.3070G>T (p.Gly1024Cys) n.2888G>T n.3096G>T | |
1 | g.197434799G>A | CA344043740 | CRB1 | c.2936G>A (p.Gly979Asp) c.1817G>A (p.Gly606Asp) c.1079G>A (p.Gly360Asp) c.2600G>A (p.Gly867Asp) c.2864G>A (p.Gly955Asp) c.2129-801G>A (n.2129-801G>A) n.2937G>A n.3145G>A c.2354G>A (p.Gly785Asp) c.1379G>A (p.Gly460Asp) c.2093G>A (p.Gly698Asp) c.3071G>A (p.Gly1024Asp) n.2889G>A n.3097G>A | |
1 | g.197434799G>C | CA344043743 | CRB1 | c.2936G>C (p.Gly979Ala) c.1817G>C (p.Gly606Ala) c.1079G>C (p.Gly360Ala) c.2600G>C (p.Gly867Ala) c.2864G>C (p.Gly955Ala) c.2129-801G>C (n.2129-801G>C) n.2937G>C n.3145G>C c.2354G>C (p.Gly785Ala) c.1379G>C (p.Gly460Ala) c.2093G>C (p.Gly698Ala) c.3071G>C (p.Gly1024Ala) n.2889G>C n.3097G>C | |
1 | g.197434799G>T | CA344043749 | CRB1 | c.2936G>T (p.Gly979Val) c.1817G>T (p.Gly606Val) c.1079G>T (p.Gly360Val) c.2600G>T (p.Gly867Val) c.2864G>T (p.Gly955Val) c.2129-801G>T (n.2129-801G>T) n.2937G>T n.3145G>T c.2354G>T (p.Gly785Val) c.1379G>T (p.Gly460Val) c.2093G>T (p.Gly698Val) c.3071G>T (p.Gly1024Val) n.2889G>T n.3097G>T | |
1 | g.197434800T>A | CA422672554 | CRB1 | c.2937T>A (p.Gly979=) c.1818T>A (p.Gly606=) c.1080T>A (p.Gly360=) c.2601T>A (p.Gly867=) c.2865T>A (p.Gly955=) c.2129-800T>A (n.2129-800T>A) n.2938T>A n.3146T>A c.2355T>A (p.Gly785=) c.1380T>A (p.Gly460=) c.2094T>A (p.Gly698=) c.3072T>A (p.Gly1024=) n.2890T>A n.3098T>A | |
1 | g.197434800T>C | CA422672553 | CRB1 | c.2937T>C (p.Gly979=) c.1818T>C (p.Gly606=) c.1080T>C (p.Gly360=) c.2601T>C (p.Gly867=) c.2865T>C (p.Gly955=) c.2129-800T>C (n.2129-800T>C) n.2938T>C n.3146T>C c.2355T>C (p.Gly785=) c.1380T>C (p.Gly460=) c.2094T>C (p.Gly698=) c.3072T>C (p.Gly1024=) n.2890T>C n.3098T>C | |
1 | g.197434800T>G | CA422672552 | CRB1 | c.2937T>G (p.Gly979=) c.1818T>G (p.Gly606=) c.1080T>G (p.Gly360=) c.2601T>G (p.Gly867=) c.2865T>G (p.Gly955=) c.2129-800T>G (n.2129-800T>G) n.2938T>G n.3146T>G c.2355T>G (p.Gly785=) c.1380T>G (p.Gly460=) c.2094T>G (p.Gly698=) c.3072T>G (p.Gly1024=) n.2890T>G n.3098T>G | |
1 | g.197434801T>A | CA344043754 | CRB1 | c.2938T>A (p.Phe980Ile) c.1819T>A (p.Phe607Ile) c.1081T>A (p.Phe361Ile) c.2602T>A (p.Phe868Ile) c.2866T>A (p.Phe956Ile) c.2129-799T>A (n.2129-799T>A) n.2939T>A n.3147T>A c.2356T>A (p.Phe786Ile) c.1381T>A (p.Phe461Ile) c.2095T>A (p.Phe699Ile) c.3073T>A (p.Phe1025Ile) n.2891T>A n.3099T>A | |
1 | g.197434801T>C | CA344043758 | CRB1 | c.2938T>C (p.Phe980Leu) c.1819T>C (p.Phe607Leu) c.1081T>C (p.Phe361Leu) c.2602T>C (p.Phe868Leu) c.2866T>C (p.Phe956Leu) c.2129-799T>C (n.2129-799T>C) n.2939T>C n.3147T>C c.2356T>C (p.Phe786Leu) c.1381T>C (p.Phe461Leu) c.2095T>C (p.Phe699Leu) c.3073T>C (p.Phe1025Leu) n.2891T>C n.3099T>C | |
1 | g.197434801T>G | CA344043762 | CRB1 | c.2938T>G (p.Phe980Val) c.1819T>G (p.Phe607Val) c.1081T>G (p.Phe361Val) c.2602T>G (p.Phe868Val) c.2866T>G (p.Phe956Val) c.2129-799T>G (n.2129-799T>G) n.2939T>G n.3147T>G c.2356T>G (p.Phe786Val) c.1381T>G (p.Phe461Val) c.2095T>G (p.Phe699Val) c.3073T>G (p.Phe1025Val) n.2891T>G n.3099T>G | dbSNP gnomAD v2 COSMIC COSMIC |
1 | g.197434801T= | CA1218068671 | CRB1 | c.2938T= (p.Phe980=) c.1819T= (p.Phe607=) c.1081T= (p.Phe361=) c.2602T= (p.Phe868=) c.2866T= (p.Phe956=) c.2129-799T= (n.2129-799T=) n.2939T= n.3147T= c.2356T= (p.Phe786=) c.1381T= (p.Phe461=) c.2095T= (p.Phe699=) c.3073T= (p.Phe1025=) n.2891T= n.3099T= | |
1 | g.197434802T>A | CA344043780 | CRB1 | c.2939T>A (p.Phe980Tyr) c.1820T>A (p.Phe607Tyr) c.1082T>A (p.Phe361Tyr) c.2603T>A (p.Phe868Tyr) c.2867T>A (p.Phe956Tyr) c.2129-798T>A (n.2129-798T>A) n.2940T>A n.3148T>A c.2357T>A (p.Phe786Tyr) c.1382T>A (p.Phe461Tyr) c.2096T>A (p.Phe699Tyr) c.3074T>A (p.Phe1025Tyr) n.2892T>A n.3100T>A | ClinVar dbSNP |
1 | g.197434802T>C | CA344043777 | CRB1 | c.2939T>C (p.Phe980Ser) c.1820T>C (p.Phe607Ser) c.1082T>C (p.Phe361Ser) c.2603T>C (p.Phe868Ser) c.2867T>C (p.Phe956Ser) c.2129-798T>C (n.2129-798T>C) n.2940T>C n.3148T>C c.2357T>C (p.Phe786Ser) c.1382T>C (p.Phe461Ser) c.2096T>C (p.Phe699Ser) c.3074T>C (p.Phe1025Ser) n.2892T>C n.3100T>C | |
1 | g.197434802T>G | CA344043773 | CRB1 | c.2939T>G (p.Phe980Cys) c.1820T>G (p.Phe607Cys) c.1082T>G (p.Phe361Cys) c.2603T>G (p.Phe868Cys) c.2867T>G (p.Phe956Cys) c.2129-798T>G (n.2129-798T>G) n.2940T>G n.3148T>G c.2357T>G (p.Phe786Cys) c.1382T>G (p.Phe461Cys) c.2096T>G (p.Phe699Cys) c.3074T>G (p.Phe1025Cys) n.2892T>G n.3100T>G | ClinVar dbSNP |
1 | g.197434802T= | CA1218068672 | CRB1 | c.2939T= (p.Phe980=) c.1820T= (p.Phe607=) c.1082T= (p.Phe361=) c.2603T= (p.Phe868=) c.2867T= (p.Phe956=) c.2129-798T= (n.2129-798T=) n.2940T= n.3148T= c.2357T= (p.Phe786=) c.1382T= (p.Phe461=) c.2096T= (p.Phe699=) c.3074T= (p.Phe1025=) n.2892T= n.3100T= | |
1 | g.197434803C>A | CA344043787 | CRB1 | c.2940C>A (p.Phe980Leu) c.1821C>A (p.Phe607Leu) c.1083C>A (p.Phe361Leu) c.2604C>A (p.Phe868Leu) c.2868C>A (p.Phe956Leu) c.2129-797C>A (n.2129-797C>A) n.2941C>A n.3149C>A c.2358C>A (p.Phe786Leu) c.1383C>A (p.Phe461Leu) c.2097C>A (p.Phe699Leu) c.3075C>A (p.Phe1025Leu) n.2893C>A n.3101C>A | |
1 | g.197434803C>G | CA344043788 | CRB1 | c.2940C>G (p.Phe980Leu) c.1821C>G (p.Phe607Leu) c.1083C>G (p.Phe361Leu) c.2604C>G (p.Phe868Leu) c.2868C>G (p.Phe956Leu) c.2129-797C>G (n.2129-797C>G) n.2941C>G n.3149C>G c.2358C>G (p.Phe786Leu) c.1383C>G (p.Phe461Leu) c.2097C>G (p.Phe699Leu) c.3075C>G (p.Phe1025Leu) n.2893C>G n.3101C>G | |
1 | g.197434803C>T | CA422672555 | CRB1 | c.2940C>T (p.Phe980=) c.1821C>T (p.Phe607=) c.1083C>T (p.Phe361=) c.2604C>T (p.Phe868=) c.2868C>T (p.Phe956=) c.2129-797C>T (n.2129-797C>T) n.2941C>T n.3149C>T c.2358C>T (p.Phe786=) c.1383C>T (p.Phe461=) c.2097C>T (p.Phe699=) c.3075C>T (p.Phe1025=) n.2893C>T n.3101C>T | |
1 | g.197434803_197434805delinsCAG | CA1218068673 | CRB1 | c.2940_2942delinsCAG (p.Phe980=) c.1821_1823delinsCAG (p.Phe607=) c.1083_1085delinsCAG (p.Phe361=) c.2604_2606delinsCAG (p.Phe868=) c.2868_2870delinsCAG (p.Phe956=) c.2129-797_2129-795delinsCAG (n.2129-797_2129-795delinsCAG) n.2941_2943delinsCAG n.3149_3151delinsCAG c.2358_2360delinsCAG (p.Phe786=) c.1383_1385delinsCAG (p.Phe461=) c.2097_2099delinsCAG (p.Phe699=) c.3075_3077delinsCAG (p.Phe1025=) n.2893_2895delinsCAG n.3101_3103delinsCAG | |
1 | g.197434804A>C | CA422672556 | CRB1 | c.2941A>C (p.Arg981=) c.1822A>C (p.Arg608=) c.1084A>C (p.Arg362=) c.2605A>C (p.Arg869=) c.2869A>C (p.Arg957=) c.2129-796A>C (n.2129-796A>C) n.2942A>C n.3150A>C c.2359A>C (p.Arg787=) c.1384A>C (p.Arg462=) c.2098A>C (p.Arg700=) c.3076A>C (p.Arg1026=) n.2894A>C n.3102A>C | |
1 | g.197434804A>G | CA344043789 | CRB1 | c.2941A>G (p.Arg981Gly) c.1822A>G (p.Arg608Gly) c.1084A>G (p.Arg362Gly) c.2605A>G (p.Arg869Gly) c.2869A>G (p.Arg957Gly) c.2129-796A>G (n.2129-796A>G) n.2942A>G n.3150A>G c.2359A>G (p.Arg787Gly) c.1384A>G (p.Arg462Gly) c.2098A>G (p.Arg700Gly) c.3076A>G (p.Arg1026Gly) n.2894A>G n.3102A>G | |
1 | g.197434804A>T | CA344043790 | CRB1 | c.2941A>T (p.Arg981Ter) c.1822A>T (p.Arg608Ter) c.1084A>T (p.Arg362Ter) c.2605A>T (p.Arg869Ter) c.2869A>T (p.Arg957Ter) c.2129-796A>T (n.2129-796A>T) n.2942A>T n.3150A>T c.2359A>T (p.Arg787Ter) c.1384A>T (p.Arg462Ter) c.2098A>T (p.Arg700Ter) c.3076A>T (p.Arg1026Ter) n.2894A>T n.3102A>T | |
1 | g.197434805_197434806del | CA729762531 | CRB1 | c.2942_2943del (p.Arg981AsnfsTer16) c.1823_1824del (p.Arg608AsnfsTer16) c.1085_1086del (p.Arg362AsnfsTer16) c.2606_2607del (p.Arg869AsnfsTer16) c.2870_2871del (p.Arg957AsnfsTer16) c.2129-795_2129-794del (n.2129-795_2129-794del) n.2943_2944del n.3151_3152del c.2360_2361del (p.Arg787AsnfsTer16) c.1385_1386del (p.Arg462AsnfsTer16) c.2099_2100del (p.Arg700AsnfsTer16) c.3077_3078del (p.Arg1026AsnfsTer16) n.2895_2896del n.3103_3104del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434805G>A | CA344043792 | CRB1 | c.2942G>A (p.Arg981Lys) c.1823G>A (p.Arg608Lys) c.1085G>A (p.Arg362Lys) c.2606G>A (p.Arg869Lys) c.2870G>A (p.Arg957Lys) c.2129-795G>A (n.2129-795G>A) n.2943G>A n.3151G>A c.2360G>A (p.Arg787Lys) c.1385G>A (p.Arg462Lys) c.2099G>A (p.Arg700Lys) c.3077G>A (p.Arg1026Lys) n.2895G>A n.3103G>A | |
1 | g.197434805G>C | CA344043795 | CRB1 | c.2942G>C (p.Arg981Thr) c.1823G>C (p.Arg608Thr) c.1085G>C (p.Arg362Thr) c.2606G>C (p.Arg869Thr) c.2870G>C (p.Arg957Thr) c.2129-795G>C (n.2129-795G>C) n.2943G>C n.3151G>C c.2360G>C (p.Arg787Thr) c.1385G>C (p.Arg462Thr) c.2099G>C (p.Arg700Thr) c.3077G>C (p.Arg1026Thr) n.2895G>C n.3103G>C | dbSNP |
1 | g.197434805G>T | CA344043800 | CRB1 | c.2942G>T (p.Arg981Ile) c.1823G>T (p.Arg608Ile) c.1085G>T (p.Arg362Ile) c.2606G>T (p.Arg869Ile) c.2870G>T (p.Arg957Ile) c.2129-795G>T (n.2129-795G>T) n.2943G>T n.3151G>T c.2360G>T (p.Arg787Ile) c.1385G>T (p.Arg462Ile) c.2099G>T (p.Arg700Ile) c.3077G>T (p.Arg1026Ile) n.2895G>T n.3103G>T | |
1 | g.197434806A>C | CA344043803 | CRB1 | c.2943A>C (p.Arg981Ser) c.1824A>C (p.Arg608Ser) c.1086A>C (p.Arg362Ser) c.2607A>C (p.Arg869Ser) c.2871A>C (p.Arg957Ser) c.2129-794A>C (n.2129-794A>C) n.2944A>C n.3152A>C c.2361A>C (p.Arg787Ser) c.1386A>C (p.Arg462Ser) c.2100A>C (p.Arg700Ser) c.3078A>C (p.Arg1026Ser) n.2896A>C n.3104A>C | |
1 | g.197434806A>G | CA422672557 | CRB1 | c.2943A>G (p.Arg981=) c.1824A>G (p.Arg608=) c.1086A>G (p.Arg362=) c.2607A>G (p.Arg869=) c.2871A>G (p.Arg957=) c.2129-794A>G (n.2129-794A>G) n.2944A>G n.3152A>G c.2361A>G (p.Arg787=) c.1386A>G (p.Arg462=) c.2100A>G (p.Arg700=) c.3078A>G (p.Arg1026=) n.2896A>G n.3104A>G | |
1 | g.197434806A>T | CA344043806 | CRB1 | c.2943A>T (p.Arg981Ser) c.1824A>T (p.Arg608Ser) c.1086A>T (p.Arg362Ser) c.2607A>T (p.Arg869Ser) c.2871A>T (p.Arg957Ser) c.2129-794A>T (n.2129-794A>T) n.2944A>T n.3152A>T c.2361A>T (p.Arg787Ser) c.1386A>T (p.Arg462Ser) c.2100A>T (p.Arg700Ser) c.3078A>T (p.Arg1026Ser) n.2896A>T n.3104A>T | |
1 | g.197434807A>C | CA344043809 | CRB1 | c.2944A>C (p.Thr982Pro) c.1825A>C (p.Thr609Pro) c.1087A>C (p.Thr363Pro) c.2608A>C (p.Thr870Pro) c.2872A>C (p.Thr958Pro) c.2129-793A>C (n.2129-793A>C) n.2945A>C n.3153A>C c.2362A>C (p.Thr788Pro) c.1387A>C (p.Thr463Pro) c.2101A>C (p.Thr701Pro) c.3079A>C (p.Thr1027Pro) n.2897A>C n.3105A>C | |
1 | g.197434807A>G | CA344043814 | CRB1 | c.2944A>G (p.Thr982Ala) c.1825A>G (p.Thr609Ala) c.1087A>G (p.Thr363Ala) c.2608A>G (p.Thr870Ala) c.2872A>G (p.Thr958Ala) c.2129-793A>G (n.2129-793A>G) n.2945A>G n.3153A>G c.2362A>G (p.Thr788Ala) c.1387A>G (p.Thr463Ala) c.2101A>G (p.Thr701Ala) c.3079A>G (p.Thr1027Ala) n.2897A>G n.3105A>G | |
1 | g.197434807A>T | CA344043823 | CRB1 | c.2944A>T (p.Thr982Ser) c.1825A>T (p.Thr609Ser) c.1087A>T (p.Thr363Ser) c.2608A>T (p.Thr870Ser) c.2872A>T (p.Thr958Ser) c.2129-793A>T (n.2129-793A>T) n.2945A>T n.3153A>T c.2362A>T (p.Thr788Ser) c.1387A>T (p.Thr463Ser) c.2101A>T (p.Thr701Ser) c.3079A>T (p.Thr1027Ser) n.2897A>T n.3105A>T | |
1 | g.197434808C>A | CA344043841 | CRB1 | c.2945C>A (p.Thr982Lys) c.1826C>A (p.Thr609Lys) c.1088C>A (p.Thr363Lys) c.2609C>A (p.Thr870Lys) c.2873C>A (p.Thr958Lys) c.2129-792C>A (n.2129-792C>A) n.2946C>A n.3154C>A c.2363C>A (p.Thr788Lys) c.1388C>A (p.Thr463Lys) c.2102C>A (p.Thr701Lys) c.3080C>A (p.Thr1027Lys) n.2898C>A n.3106C>A | dbSNP gnomAD v4 |
1 | g.197434808C= | CA1218068674 | CRB1 | c.2945C= (p.Thr982=) c.1826C= (p.Thr609=) c.1088C= (p.Thr363=) c.2609C= (p.Thr870=) c.2873C= (p.Thr958=) c.2129-792C= (n.2129-792C=) n.2946C= n.3154C= c.2363C= (p.Thr788=) c.1388C= (p.Thr463=) c.2102C= (p.Thr701=) c.3080C= (p.Thr1027=) n.2898C= n.3106C= | |
1 | g.197434808C>G | CA344043836 | CRB1 | c.2945C>G (p.Thr982Arg) c.1826C>G (p.Thr609Arg) c.1088C>G (p.Thr363Arg) c.2609C>G (p.Thr870Arg) c.2873C>G (p.Thr958Arg) c.2129-792C>G (n.2129-792C>G) n.2946C>G n.3154C>G c.2363C>G (p.Thr788Arg) c.1388C>G (p.Thr463Arg) c.2102C>G (p.Thr701Arg) c.3080C>G (p.Thr1027Arg) n.2898C>G n.3106C>G | |
1 | g.197434808C>T | CA344043827 | CRB1 | c.2945C>T (p.Thr982Ile) c.1826C>T (p.Thr609Ile) c.1088C>T (p.Thr363Ile) c.2609C>T (p.Thr870Ile) c.2873C>T (p.Thr958Ile) c.2129-792C>T (n.2129-792C>T) n.2946C>T n.3154C>T c.2363C>T (p.Thr788Ile) c.1388C>T (p.Thr463Ile) c.2102C>T (p.Thr701Ile) c.3080C>T (p.Thr1027Ile) n.2898C>T n.3106C>T | |
1 | g.197434809A>C | CA422672558 | CRB1 | c.2946A>C (p.Thr982=) c.1827A>C (p.Thr609=) c.1089A>C (p.Thr363=) c.2610A>C (p.Thr870=) c.2874A>C (p.Thr958=) c.2129-791A>C (n.2129-791A>C) n.2947A>C n.3155A>C c.2364A>C (p.Thr788=) c.1389A>C (p.Thr463=) c.2103A>C (p.Thr701=) c.3081A>C (p.Thr1027=) n.2899A>C n.3107A>C | |
1 | g.197434809A>G | CA422672559 | CRB1 | c.2946A>G (p.Thr982=) c.1827A>G (p.Thr609=) c.1089A>G (p.Thr363=) c.2610A>G (p.Thr870=) c.2874A>G (p.Thr958=) c.2129-791A>G (n.2129-791A>G) n.2947A>G n.3155A>G c.2364A>G (p.Thr788=) c.1389A>G (p.Thr463=) c.2103A>G (p.Thr701=) c.3081A>G (p.Thr1027=) n.2899A>G n.3107A>G | |
1 | g.197434809A>T | CA422672560 | CRB1 | c.2946A>T (p.Thr982=) c.1827A>T (p.Thr609=) c.1089A>T (p.Thr363=) c.2610A>T (p.Thr870=) c.2874A>T (p.Thr958=) c.2129-791A>T (n.2129-791A>T) n.2947A>T n.3155A>T c.2364A>T (p.Thr788=) c.1389A>T (p.Thr463=) c.2103A>T (p.Thr701=) c.3081A>T (p.Thr1027=) n.2899A>T n.3107A>T | |
1 | g.197434810A>C | CA422672561 | CRB1 | c.2947A>C (p.Arg983=) c.1828A>C (p.Arg610=) c.1090A>C (p.Arg364=) c.2611A>C (p.Arg871=) c.2875A>C (p.Arg959=) c.2129-790A>C (n.2129-790A>C) n.2948A>C n.3156A>C c.2365A>C (p.Arg789=) c.1390A>C (p.Arg464=) c.2104A>C (p.Arg702=) c.3082A>C (p.Arg1028=) n.2900A>C n.3108A>C | |
1 | g.197434810A>G | CA344043846 | CRB1 | c.2947A>G (p.Arg983Gly) c.1828A>G (p.Arg610Gly) c.1090A>G (p.Arg364Gly) c.2611A>G (p.Arg871Gly) c.2875A>G (p.Arg959Gly) c.2129-790A>G (n.2129-790A>G) n.2948A>G n.3156A>G c.2365A>G (p.Arg789Gly) c.1390A>G (p.Arg464Gly) c.2104A>G (p.Arg702Gly) c.3082A>G (p.Arg1028Gly) n.2900A>G n.3108A>G | |
1 | g.197434810A>T | CA344043851 | CRB1 | c.2947A>T (p.Arg983Trp) c.1828A>T (p.Arg610Trp) c.1090A>T (p.Arg364Trp) c.2611A>T (p.Arg871Trp) c.2875A>T (p.Arg959Trp) c.2129-790A>T (n.2129-790A>T) n.2948A>T n.3156A>T c.2365A>T (p.Arg789Trp) c.1390A>T (p.Arg464Trp) c.2104A>T (p.Arg702Trp) c.3082A>T (p.Arg1028Trp) n.2900A>T n.3108A>T | gnomAD v4 COSMIC COSMIC |
1 | g.197434811G>A | CA35906684 | CRB1 | c.2948G>A (p.Arg983Lys) c.1829G>A (p.Arg610Lys) c.1091G>A (p.Arg364Lys) c.2612G>A (p.Arg871Lys) c.2876G>A (p.Arg959Lys) c.2129-789G>A (n.2129-789G>A) n.2949G>A n.3157G>A c.2366G>A (p.Arg789Lys) c.1391G>A (p.Arg464Lys) c.2105G>A (p.Arg702Lys) c.3083G>A (p.Arg1028Lys) n.2901G>A n.3109G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197434811G>C | CA344043865 | CRB1 | c.2948G>C (p.Arg983Thr) c.1829G>C (p.Arg610Thr) c.1091G>C (p.Arg364Thr) c.2612G>C (p.Arg871Thr) c.2876G>C (p.Arg959Thr) c.2129-789G>C (n.2129-789G>C) n.2949G>C n.3157G>C c.2366G>C (p.Arg789Thr) c.1391G>C (p.Arg464Thr) c.2105G>C (p.Arg702Thr) c.3083G>C (p.Arg1028Thr) n.2901G>C n.3109G>C | |
1 | g.197434811G= | CA1218068675 | CRB1 | c.2948G= (p.Arg983=) c.1829G= (p.Arg610=) c.1091G= (p.Arg364=) c.2612G= (p.Arg871=) c.2876G= (p.Arg959=) c.2129-789G= (n.2129-789G=) n.2949G= n.3157G= c.2366G= (p.Arg789=) c.1391G= (p.Arg464=) c.2105G= (p.Arg702=) c.3083G= (p.Arg1028=) n.2901G= n.3109G= | |
1 | g.197434811G>T | CA344043868 | CRB1 | c.2948G>T (p.Arg983Met) c.1829G>T (p.Arg610Met) c.1091G>T (p.Arg364Met) c.2612G>T (p.Arg871Met) c.2876G>T (p.Arg959Met) c.2129-789G>T (n.2129-789G>T) n.2949G>T n.3157G>T c.2366G>T (p.Arg789Met) c.1391G>T (p.Arg464Met) c.2105G>T (p.Arg702Met) c.3083G>T (p.Arg1028Met) n.2901G>T n.3109G>T | dbSNP gnomAD v4 |
1 | g.197434812G>A | CA422672562 | CRB1 | c.2949G>A (p.Arg983=) c.1830G>A (p.Arg610=) c.1092G>A (p.Arg364=) c.2613G>A (p.Arg871=) c.2877G>A (p.Arg959=) c.2129-788G>A (n.2129-788G>A) n.2950G>A n.3158G>A c.2367G>A (p.Arg789=) c.1392G>A (p.Arg464=) c.2106G>A (p.Arg702=) c.3084G>A (p.Arg1028=) n.2902G>A n.3110G>A | ClinVar dbSNP gnomAD v4 |
1 | g.197434812G>C | CA344043874 | CRB1 | c.2949G>C (p.Arg983Ser) c.1830G>C (p.Arg610Ser) c.1092G>C (p.Arg364Ser) c.2613G>C (p.Arg871Ser) c.2877G>C (p.Arg959Ser) c.2129-788G>C (n.2129-788G>C) n.2950G>C n.3158G>C c.2367G>C (p.Arg789Ser) c.1392G>C (p.Arg464Ser) c.2106G>C (p.Arg702Ser) c.3084G>C (p.Arg1028Ser) n.2902G>C n.3110G>C | |
1 | g.197434812G>T | CA344043883 | CRB1 | c.2949G>T (p.Arg983Ser) c.1830G>T (p.Arg610Ser) c.1092G>T (p.Arg364Ser) c.2613G>T (p.Arg871Ser) c.2877G>T (p.Arg959Ser) c.2129-788G>T (n.2129-788G>T) n.2950G>T n.3158G>T c.2367G>T (p.Arg789Ser) c.1392G>T (p.Arg464Ser) c.2106G>T (p.Arg702Ser) c.3084G>T (p.Arg1028Ser) n.2902G>T n.3110G>T | |
1 | g.197434813G>A | CA344043887 | CRB1 | c.2950G>A (p.Asp984Asn) c.1831G>A (p.Asp611Asn) c.1093G>A (p.Asp365Asn) c.2614G>A (p.Asp872Asn) c.2878G>A (p.Asp960Asn) c.2129-787G>A (n.2129-787G>A) n.2951G>A n.3159G>A c.2368G>A (p.Asp790Asn) c.1393G>A (p.Asp465Asn) c.2107G>A (p.Asp703Asn) c.3085G>A (p.Asp1029Asn) n.2903G>A n.3111G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434813G>C | CA344043888 | CRB1 | c.2950G>C (p.Asp984His) c.1831G>C (p.Asp611His) c.1093G>C (p.Asp365His) c.2614G>C (p.Asp872His) c.2878G>C (p.Asp960His) c.2129-787G>C (n.2129-787G>C) n.2951G>C n.3159G>C c.2368G>C (p.Asp790His) c.1393G>C (p.Asp465His) c.2107G>C (p.Asp703His) c.3085G>C (p.Asp1029His) n.2903G>C n.3111G>C | |
1 | g.197434813G= | CA1218068676 | CRB1 | c.2950G= (p.Asp984=) c.1831G= (p.Asp611=) c.1093G= (p.Asp365=) c.2614G= (p.Asp872=) c.2878G= (p.Asp960=) c.2129-787G= (n.2129-787G=) n.2951G= n.3159G= c.2368G= (p.Asp790=) c.1393G= (p.Asp465=) c.2107G= (p.Asp703=) c.3085G= (p.Asp1029=) n.2903G= n.3111G= | |
1 | g.197434813G>T | CA344043889 | CRB1 | c.2950G>T (p.Asp984Tyr) c.1831G>T (p.Asp611Tyr) c.1093G>T (p.Asp365Tyr) c.2614G>T (p.Asp872Tyr) c.2878G>T (p.Asp960Tyr) c.2129-787G>T (n.2129-787G>T) n.2951G>T n.3159G>T c.2368G>T (p.Asp790Tyr) c.1393G>T (p.Asp465Tyr) c.2107G>T (p.Asp703Tyr) c.3085G>T (p.Asp1029Tyr) n.2903G>T n.3111G>T | |
1 | g.197434814A= | CA1218068677 | CRB1 | c.2951A= (p.Asp984=) c.1832A= (p.Asp611=) c.1094A= (p.Asp365=) c.2615A= (p.Asp872=) c.2879A= (p.Asp960=) c.2129-786A= (n.2129-786A=) n.2952A= n.3160A= c.2369A= (p.Asp790=) c.1394A= (p.Asp465=) c.2108A= (p.Asp703=) c.3086A= (p.Asp1029=) n.2904A= n.3112A= | |
1 | g.197434814A>C | CA344043894 | CRB1 | c.2951A>C (p.Asp984Ala) c.1832A>C (p.Asp611Ala) c.1094A>C (p.Asp365Ala) c.2615A>C (p.Asp872Ala) c.2879A>C (p.Asp960Ala) c.2129-786A>C (n.2129-786A>C) n.2952A>C n.3160A>C c.2369A>C (p.Asp790Ala) c.1394A>C (p.Asp465Ala) c.2108A>C (p.Asp703Ala) c.3086A>C (p.Asp1029Ala) n.2904A>C n.3112A>C | ClinVar dbSNP |
1 | g.197434814A>G | CA344043902 | CRB1 | c.2951A>G (p.Asp984Gly) c.1832A>G (p.Asp611Gly) c.1094A>G (p.Asp365Gly) c.2615A>G (p.Asp872Gly) c.2879A>G (p.Asp960Gly) c.2129-786A>G (n.2129-786A>G) n.2952A>G n.3160A>G c.2369A>G (p.Asp790Gly) c.1394A>G (p.Asp465Gly) c.2108A>G (p.Asp703Gly) c.3086A>G (p.Asp1029Gly) n.2904A>G n.3112A>G | |
1 | g.197434814A>T | CA344043904 | CRB1 | c.2951A>T (p.Asp984Val) c.1832A>T (p.Asp611Val) c.1094A>T (p.Asp365Val) c.2615A>T (p.Asp872Val) c.2879A>T (p.Asp960Val) c.2129-786A>T (n.2129-786A>T) n.2952A>T n.3160A>T c.2369A>T (p.Asp790Val) c.1394A>T (p.Asp465Val) c.2108A>T (p.Asp703Val) c.3086A>T (p.Asp1029Val) n.2904A>T n.3112A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434815T>A | CA344043919 | CRB1 | c.2952T>A (p.Asp984Glu) c.1833T>A (p.Asp611Glu) c.1095T>A (p.Asp365Glu) c.2616T>A (p.Asp872Glu) c.2880T>A (p.Asp960Glu) c.2129-785T>A (n.2129-785T>A) n.2953T>A n.3161T>A c.2370T>A (p.Asp790Glu) c.1395T>A (p.Asp465Glu) c.2109T>A (p.Asp703Glu) c.3087T>A (p.Asp1029Glu) n.2905T>A n.3113T>A | |
1 | g.197434815T>C | CA422672563 | CRB1 | c.2952T>C (p.Asp984=) c.1833T>C (p.Asp611=) c.1095T>C (p.Asp365=) c.2616T>C (p.Asp872=) c.2880T>C (p.Asp960=) c.2129-785T>C (n.2129-785T>C) n.2953T>C n.3161T>C c.2370T>C (p.Asp790=) c.1395T>C (p.Asp465=) c.2109T>C (p.Asp703=) c.3087T>C (p.Asp1029=) n.2905T>C n.3113T>C | |
1 | g.197434815T>G | CA344043914 | CRB1 | c.2952T>G (p.Asp984Glu) c.1833T>G (p.Asp611Glu) c.1095T>G (p.Asp365Glu) c.2616T>G (p.Asp872Glu) c.2880T>G (p.Asp960Glu) c.2129-785T>G (n.2129-785T>G) n.2953T>G n.3161T>G c.2370T>G (p.Asp790Glu) c.1395T>G (p.Asp465Glu) c.2109T>G (p.Asp703Glu) c.3087T>G (p.Asp1029Glu) n.2905T>G n.3113T>G | |
1 | g.197434816G>A | CA344043924 | CRB1 | c.2953G>A (p.Ala985Thr) c.1834G>A (p.Ala612Thr) c.1096G>A (p.Ala366Thr) c.2617G>A (p.Ala873Thr) c.2881G>A (p.Ala961Thr) c.2129-784G>A (n.2129-784G>A) n.2954G>A n.3162G>A c.2371G>A (p.Ala791Thr) c.1396G>A (p.Ala466Thr) c.2110G>A (p.Ala704Thr) c.3088G>A (p.Ala1030Thr) n.2906G>A n.3114G>A | dbSNP |
1 | g.197434816G>C | CA344043926 | CRB1 | c.2953G>C (p.Ala985Pro) c.1834G>C (p.Ala612Pro) c.1096G>C (p.Ala366Pro) c.2617G>C (p.Ala873Pro) c.2881G>C (p.Ala961Pro) c.2129-784G>C (n.2129-784G>C) n.2954G>C n.3162G>C c.2371G>C (p.Ala791Pro) c.1396G>C (p.Ala466Pro) c.2110G>C (p.Ala704Pro) c.3088G>C (p.Ala1030Pro) n.2906G>C n.3114G>C | |
1 | g.197434816G= | CA1218068678 | CRB1 | c.2953G= (p.Ala985=) c.1834G= (p.Ala612=) c.1096G= (p.Ala366=) c.2617G= (p.Ala873=) c.2881G= (p.Ala961=) c.2129-784G= (n.2129-784G=) n.2954G= n.3162G= c.2371G= (p.Ala791=) c.1396G= (p.Ala466=) c.2110G= (p.Ala704=) c.3088G= (p.Ala1030=) n.2906G= n.3114G= | |
1 | g.197434816G>T | CA344043930 | CRB1 | c.2953G>T (p.Ala985Ser) c.1834G>T (p.Ala612Ser) c.1096G>T (p.Ala366Ser) c.2617G>T (p.Ala873Ser) c.2881G>T (p.Ala961Ser) c.2129-784G>T (n.2129-784G>T) n.2954G>T n.3162G>T c.2371G>T (p.Ala791Ser) c.1396G>T (p.Ala466Ser) c.2110G>T (p.Ala704Ser) c.3088G>T (p.Ala1030Ser) n.2906G>T n.3114G>T | |
1 | g.197434817C>A | CA344043935 | CRB1 | c.2954C>A (p.Ala985Glu) c.1835C>A (p.Ala612Glu) c.1097C>A (p.Ala366Glu) c.2618C>A (p.Ala873Glu) c.2882C>A (p.Ala961Glu) c.2129-783C>A (n.2129-783C>A) n.2955C>A n.3163C>A c.2372C>A (p.Ala791Glu) c.1397C>A (p.Ala466Glu) c.2111C>A (p.Ala704Glu) c.3089C>A (p.Ala1030Glu) n.2907C>A n.3115C>A | gnomAD v4 COSMIC |
1 | g.197434817C>G | CA344043939 | CRB1 | c.2954C>G (p.Ala985Gly) c.1835C>G (p.Ala612Gly) c.1097C>G (p.Ala366Gly) c.2618C>G (p.Ala873Gly) c.2882C>G (p.Ala961Gly) c.2129-783C>G (n.2129-783C>G) n.2955C>G n.3163C>G c.2372C>G (p.Ala791Gly) c.1397C>G (p.Ala466Gly) c.2111C>G (p.Ala704Gly) c.3089C>G (p.Ala1030Gly) n.2907C>G n.3115C>G | |
1 | g.197434817C>T | CA344043942 | CRB1 | c.2954C>T (p.Ala985Val) c.1835C>T (p.Ala612Val) c.1097C>T (p.Ala366Val) c.2618C>T (p.Ala873Val) c.2882C>T (p.Ala961Val) c.2129-783C>T (n.2129-783C>T) n.2955C>T n.3163C>T c.2372C>T (p.Ala791Val) c.1397C>T (p.Ala466Val) c.2111C>T (p.Ala704Val) c.3089C>T (p.Ala1030Val) n.2907C>T n.3115C>T | |
1 | g.197434818A= | CA1218068679 | CRB1 | c.2955A= (p.Ala985=) c.1836A= (p.Ala612=) c.1098A= (p.Ala366=) c.2619A= (p.Ala873=) c.2883A= (p.Ala961=) c.2129-782A= (n.2129-782A=) n.2956A= n.3164A= c.2373A= (p.Ala791=) c.1398A= (p.Ala466=) c.2112A= (p.Ala704=) c.3090A= (p.Ala1030=) n.2908A= n.3116A= | |
1 | g.197434818A>C | CA422672564 | CRB1 | c.2955A>C (p.Ala985=) c.1836A>C (p.Ala612=) c.1098A>C (p.Ala366=) c.2619A>C (p.Ala873=) c.2883A>C (p.Ala961=) c.2129-782A>C (n.2129-782A>C) n.2956A>C n.3164A>C c.2373A>C (p.Ala791=) c.1398A>C (p.Ala466=) c.2112A>C (p.Ala704=) c.3090A>C (p.Ala1030=) n.2908A>C n.3116A>C | |
1 | g.197434818A>G | CA422672566 | CRB1 | c.2955A>G (p.Ala985=) c.1836A>G (p.Ala612=) c.1098A>G (p.Ala366=) c.2619A>G (p.Ala873=) c.2883A>G (p.Ala961=) c.2129-782A>G (n.2129-782A>G) n.2956A>G n.3164A>G c.2373A>G (p.Ala791=) c.1398A>G (p.Ala466=) c.2112A>G (p.Ala704=) c.3090A>G (p.Ala1030=) n.2908A>G n.3116A>G | dbSNP |
1 | g.197434818A>T | CA422672565 | CRB1 | c.2955A>T (p.Ala985=) c.1836A>T (p.Ala612=) c.1098A>T (p.Ala366=) c.2619A>T (p.Ala873=) c.2883A>T (p.Ala961=) c.2129-782A>T (n.2129-782A>T) n.2956A>T n.3164A>T c.2373A>T (p.Ala791=) c.1398A>T (p.Ala466=) c.2112A>T (p.Ala704=) c.3090A>T (p.Ala1030=) n.2908A>T n.3116A>T | gnomAD v4 |
1 | g.197434818_197434819insGA | CA2580061837 | CRB1 | c.2955_2956insGA (p.Asn986GlufsTer3) c.1836_1837insGA (p.Asn613GlufsTer3) c.1098_1099insGA (p.Asn367GlufsTer3) c.2619_2620insGA (p.Asn874GlufsTer3) c.2883_2884insGA (p.Asn962GlufsTer3) c.2129-782_2129-781insGA (n.2129-782_2129-781insGA) n.2956_2957insGA n.3164_3165insGA c.2373_2374insGA (p.Asn792GlufsTer3) c.1398_1399insGA (p.Asn467GlufsTer3) c.2112_2113insGA (p.Asn705GlufsTer3) c.3090_3091insGA (p.Asn1031GlufsTer3) n.2908_2909insGA n.3116_3117insGA | ClinVar gnomAD v4 |
1 | g.197434819A= | CA1218068680 | CRB1 | c.2956A= (p.Asn986=) c.1837A= (p.Asn613=) c.1099A= (p.Asn367=) c.2620A= (p.Asn874=) c.2884A= (p.Asn962=) c.2129-781A= (n.2129-781A=) n.2957A= n.3165A= c.2374A= (p.Asn792=) c.1399A= (p.Asn467=) c.2113A= (p.Asn705=) c.3091A= (p.Asn1031=) n.2909A= n.3117A= | |
1 | g.197434819A>C | CA344043951 | CRB1 | c.2956A>C (p.Asn986His) c.1837A>C (p.Asn613His) c.1099A>C (p.Asn367His) c.2620A>C (p.Asn874His) c.2884A>C (p.Asn962His) c.2129-781A>C (n.2129-781A>C) n.2957A>C n.3165A>C c.2374A>C (p.Asn792His) c.1399A>C (p.Asn467His) c.2113A>C (p.Asn705His) c.3091A>C (p.Asn1031His) n.2909A>C n.3117A>C | |
1 | g.197434819A>G | CA344043947 | CRB1 | c.2956A>G (p.Asn986Asp) c.1837A>G (p.Asn613Asp) c.1099A>G (p.Asn367Asp) c.2620A>G (p.Asn874Asp) c.2884A>G (p.Asn962Asp) c.2129-781A>G (n.2129-781A>G) n.2957A>G n.3165A>G c.2374A>G (p.Asn792Asp) c.1399A>G (p.Asn467Asp) c.2113A>G (p.Asn705Asp) c.3091A>G (p.Asn1031Asp) n.2909A>G n.3117A>G | |
1 | g.197434819A>T | CA344043949 | CRB1 | c.2956A>T (p.Asn986Tyr) c.1837A>T (p.Asn613Tyr) c.1099A>T (p.Asn367Tyr) c.2620A>T (p.Asn874Tyr) c.2884A>T (p.Asn962Tyr) c.2129-781A>T (n.2129-781A>T) n.2957A>T n.3165A>T c.2374A>T (p.Asn792Tyr) c.1399A>T (p.Asn467Tyr) c.2113A>T (p.Asn705Tyr) c.3091A>T (p.Asn1031Tyr) n.2909A>T n.3117A>T | ClinVar dbSNP |
1 | g.197434820A>C | CA344043954 | CRB1 | c.2957A>C (p.Asn986Thr) c.1838A>C (p.Asn613Thr) c.1100A>C (p.Asn367Thr) c.2621A>C (p.Asn874Thr) c.2885A>C (p.Asn962Thr) c.2129-780A>C (n.2129-780A>C) n.2958A>C n.3166A>C c.2375A>C (p.Asn792Thr) c.1400A>C (p.Asn467Thr) c.2114A>C (p.Asn705Thr) c.3092A>C (p.Asn1031Thr) n.2910A>C n.3118A>C | |
1 | g.197434820A>G | CA344043958 | CRB1 | c.2957A>G (p.Asn986Ser) c.1838A>G (p.Asn613Ser) c.1100A>G (p.Asn367Ser) c.2621A>G (p.Asn874Ser) c.2885A>G (p.Asn962Ser) c.2129-780A>G (n.2129-780A>G) n.2958A>G n.3166A>G c.2375A>G (p.Asn792Ser) c.1400A>G (p.Asn467Ser) c.2114A>G (p.Asn705Ser) c.3092A>G (p.Asn1031Ser) n.2910A>G n.3118A>G | |
1 | g.197434820A>T | CA344043959 | CRB1 | c.2957A>T (p.Asn986Ile) c.1838A>T (p.Asn613Ile) c.1100A>T (p.Asn367Ile) c.2621A>T (p.Asn874Ile) c.2885A>T (p.Asn962Ile) c.2129-780A>T (n.2129-780A>T) n.2958A>T n.3166A>T c.2375A>T (p.Asn792Ile) c.1400A>T (p.Asn467Ile) c.2114A>T (p.Asn705Ile) c.3092A>T (p.Asn1031Ile) n.2910A>T n.3118A>T | |
1 | g.197434821T>A | CA344043960 | CRB1 | c.2958T>A (p.Asn986Lys) c.1839T>A (p.Asn613Lys) c.1101T>A (p.Asn367Lys) c.2622T>A (p.Asn874Lys) c.2886T>A (p.Asn962Lys) c.2129-779T>A (n.2129-779T>A) n.2959T>A n.3167T>A c.2376T>A (p.Asn792Lys) c.1401T>A (p.Asn467Lys) c.2115T>A (p.Asn705Lys) c.3093T>A (p.Asn1031Lys) n.2911T>A n.3119T>A | |
1 | g.197434821T>C | CA422672567 | CRB1 | c.2958T>C (p.Asn986=) c.1839T>C (p.Asn613=) c.1101T>C (p.Asn367=) c.2622T>C (p.Asn874=) c.2886T>C (p.Asn962=) c.2129-779T>C (n.2129-779T>C) n.2959T>C n.3167T>C c.2376T>C (p.Asn792=) c.1401T>C (p.Asn467=) c.2115T>C (p.Asn705=) c.3093T>C (p.Asn1031=) n.2911T>C n.3119T>C | ClinVar dbSNP |
1 | g.197434821T>G | CA344043961 | CRB1 | c.2958T>G (p.Asn986Lys) c.1839T>G (p.Asn613Lys) c.1101T>G (p.Asn367Lys) c.2622T>G (p.Asn874Lys) c.2886T>G (p.Asn962Lys) c.2129-779T>G (n.2129-779T>G) n.2959T>G n.3167T>G c.2376T>G (p.Asn792Lys) c.1401T>G (p.Asn467Lys) c.2115T>G (p.Asn705Lys) c.3093T>G (p.Asn1031Lys) n.2911T>G n.3119T>G | gnomAD v4 |
1 | g.197434821T= | CA1218068681 | CRB1 | c.2958T= (p.Asn986=) c.1839T= (p.Asn613=) c.1101T= (p.Asn367=) c.2622T= (p.Asn874=) c.2886T= (p.Asn962=) c.2129-779T= (n.2129-779T=) n.2959T= n.3167T= c.2376T= (p.Asn792=) c.1401T= (p.Asn467=) c.2115T= (p.Asn705=) c.3093T= (p.Asn1031=) n.2911T= n.3119T= | |
1 | g.197434822G>A | CA344043981 | CRB1 | c.2959G>A (p.Val987Ile) c.1840G>A (p.Val614Ile) c.1102G>A (p.Val368Ile) c.2623G>A (p.Val875Ile) c.2887G>A (p.Val963Ile) c.2129-778G>A (n.2129-778G>A) n.2960G>A n.3168G>A c.2377G>A (p.Val793Ile) c.1402G>A (p.Val468Ile) c.2116G>A (p.Val706Ile) c.3094G>A (p.Val1032Ile) n.2912G>A n.3120G>A | |
1 | g.197434822G>C | CA344043968 | CRB1 | c.2959G>C (p.Val987Leu) c.1840G>C (p.Val614Leu) c.1102G>C (p.Val368Leu) c.2623G>C (p.Val875Leu) c.2887G>C (p.Val963Leu) c.2129-778G>C (n.2129-778G>C) n.2960G>C n.3168G>C c.2377G>C (p.Val793Leu) c.1402G>C (p.Val468Leu) c.2116G>C (p.Val706Leu) c.3094G>C (p.Val1032Leu) n.2912G>C n.3120G>C | |
1 | g.197434822G>T | CA344043976 | CRB1 | c.2959G>T (p.Val987Leu) c.1840G>T (p.Val614Leu) c.1102G>T (p.Val368Leu) c.2623G>T (p.Val875Leu) c.2887G>T (p.Val963Leu) c.2129-778G>T (n.2129-778G>T) n.2960G>T n.3168G>T c.2377G>T (p.Val793Leu) c.1402G>T (p.Val468Leu) c.2116G>T (p.Val706Leu) c.3094G>T (p.Val1032Leu) n.2912G>T n.3120G>T | |
1 | g.197434823T>A | CA344043990 | CRB1 | c.2960T>A (p.Val987Glu) c.1841T>A (p.Val614Glu) c.1103T>A (p.Val368Glu) c.2624T>A (p.Val875Glu) c.2888T>A (p.Val963Glu) c.2129-777T>A (n.2129-777T>A) n.2961T>A n.3169T>A c.2378T>A (p.Val793Glu) c.1403T>A (p.Val468Glu) c.2117T>A (p.Val706Glu) c.3095T>A (p.Val1032Glu) n.2913T>A n.3121T>A | |
1 | g.197434823T>C | CA344044004 | CRB1 | c.2960T>C (p.Val987Ala) c.1841T>C (p.Val614Ala) c.1103T>C (p.Val368Ala) c.2624T>C (p.Val875Ala) c.2888T>C (p.Val963Ala) c.2129-777T>C (n.2129-777T>C) n.2961T>C n.3169T>C c.2378T>C (p.Val793Ala) c.1403T>C (p.Val468Ala) c.2117T>C (p.Val706Ala) c.3095T>C (p.Val1032Ala) n.2913T>C n.3121T>C | |
1 | g.197434823T>G | CA344044010 | CRB1 | c.2960T>G (p.Val987Gly) c.1841T>G (p.Val614Gly) c.1103T>G (p.Val368Gly) c.2624T>G (p.Val875Gly) c.2888T>G (p.Val963Gly) c.2129-777T>G (n.2129-777T>G) n.2961T>G n.3169T>G c.2378T>G (p.Val793Gly) c.1403T>G (p.Val468Gly) c.2117T>G (p.Val706Gly) c.3095T>G (p.Val1032Gly) n.2913T>G n.3121T>G | |
1 | g.197434824A>C | CA422672568 | CRB1 | c.2961A>C (p.Val987=) c.1842A>C (p.Val614=) c.1104A>C (p.Val368=) c.2625A>C (p.Val875=) c.2889A>C (p.Val963=) c.2129-776A>C (n.2129-776A>C) n.2962A>C n.3170A>C c.2379A>C (p.Val793=) c.1404A>C (p.Val468=) c.2118A>C (p.Val706=) c.3096A>C (p.Val1032=) n.2914A>C n.3122A>C | gnomAD v4 |
1 | g.197434824A>G | CA422672569 | CRB1 | c.2961A>G (p.Val987=) c.1842A>G (p.Val614=) c.1104A>G (p.Val368=) c.2625A>G (p.Val875=) c.2889A>G (p.Val963=) c.2129-776A>G (n.2129-776A>G) n.2962A>G n.3170A>G c.2379A>G (p.Val793=) c.1404A>G (p.Val468=) c.2118A>G (p.Val706=) c.3096A>G (p.Val1032=) n.2914A>G n.3122A>G | ClinVar gnomAD v4 |
1 | g.197434824A>T | CA422672570 | CRB1 | c.2961A>T (p.Val987=) c.1842A>T (p.Val614=) c.1104A>T (p.Val368=) c.2625A>T (p.Val875=) c.2889A>T (p.Val963=) c.2129-776A>T (n.2129-776A>T) n.2962A>T n.3170A>T c.2379A>T (p.Val793=) c.1404A>T (p.Val468=) c.2118A>T (p.Val706=) c.3096A>T (p.Val1032=) n.2914A>T n.3122A>T | |
1 | g.197434825A= | CA1218068682 | CRB1 | c.2962A= (p.Ile988=) c.1843A= (p.Ile615=) c.1105A= (p.Ile369=) c.2626A= (p.Ile876=) c.2890A= (p.Ile964=) c.2129-775A= (n.2129-775A=) n.2963A= n.3171A= c.2380A= (p.Ile794=) c.1405A= (p.Ile469=) c.2119A= (p.Ile707=) c.3097A= (p.Ile1033=) n.2915A= n.3123A= | |
1 | g.197434825A>C | CA344044012 | CRB1 | c.2962A>C (p.Ile988Leu) c.1843A>C (p.Ile615Leu) c.1105A>C (p.Ile369Leu) c.2626A>C (p.Ile876Leu) c.2890A>C (p.Ile964Leu) c.2129-775A>C (n.2129-775A>C) n.2963A>C n.3171A>C c.2380A>C (p.Ile794Leu) c.1405A>C (p.Ile469Leu) c.2119A>C (p.Ile707Leu) c.3097A>C (p.Ile1033Leu) n.2915A>C n.3123A>C | |
1 | g.197434825A>G | CA344044013 | CRB1 | c.2962A>G (p.Ile988Val) c.1843A>G (p.Ile615Val) c.1105A>G (p.Ile369Val) c.2626A>G (p.Ile876Val) c.2890A>G (p.Ile964Val) c.2129-775A>G (n.2129-775A>G) n.2963A>G n.3171A>G c.2380A>G (p.Ile794Val) c.1405A>G (p.Ile469Val) c.2119A>G (p.Ile707Val) c.3097A>G (p.Ile1033Val) n.2915A>G n.3123A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434825A>T | CA344044014 | CRB1 | c.2962A>T (p.Ile988Leu) c.1843A>T (p.Ile615Leu) c.1105A>T (p.Ile369Leu) c.2626A>T (p.Ile876Leu) c.2890A>T (p.Ile964Leu) c.2129-775A>T (n.2129-775A>T) n.2963A>T n.3171A>T c.2380A>T (p.Ile794Leu) c.1405A>T (p.Ile469Leu) c.2119A>T (p.Ile707Leu) c.3097A>T (p.Ile1033Leu) n.2915A>T n.3123A>T | |
1 | g.197434826T>A | CA344044019 | CRB1 | c.2963T>A (p.Ile988Lys) c.1844T>A (p.Ile615Lys) c.1106T>A (p.Ile369Lys) c.2627T>A (p.Ile876Lys) c.2891T>A (p.Ile964Lys) c.2129-774T>A (n.2129-774T>A) n.2964T>A n.3172T>A c.2381T>A (p.Ile794Lys) c.1406T>A (p.Ile469Lys) c.2120T>A (p.Ile707Lys) c.3098T>A (p.Ile1033Lys) n.2916T>A n.3124T>A | |
1 | g.197434826T>C | CA344044022 | CRB1 | c.2963T>C (p.Ile988Thr) c.1844T>C (p.Ile615Thr) c.1106T>C (p.Ile369Thr) c.2627T>C (p.Ile876Thr) c.2891T>C (p.Ile964Thr) c.2129-774T>C (n.2129-774T>C) n.2964T>C n.3172T>C c.2381T>C (p.Ile794Thr) c.1406T>C (p.Ile469Thr) c.2120T>C (p.Ile707Thr) c.3098T>C (p.Ile1033Thr) n.2916T>C n.3124T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434826T>G | CA344044028 | CRB1 | c.2963T>G (p.Ile988Arg) c.1844T>G (p.Ile615Arg) c.1106T>G (p.Ile369Arg) c.2627T>G (p.Ile876Arg) c.2891T>G (p.Ile964Arg) c.2129-774T>G (n.2129-774T>G) n.2964T>G n.3172T>G c.2381T>G (p.Ile794Arg) c.1406T>G (p.Ile469Arg) c.2120T>G (p.Ile707Arg) c.3098T>G (p.Ile1033Arg) n.2916T>G n.3124T>G | |
1 | g.197434826T= | CA1218068683 | CRB1 | c.2963T= (p.Ile988=) c.1844T= (p.Ile615=) c.1106T= (p.Ile369=) c.2627T= (p.Ile876=) c.2891T= (p.Ile964=) c.2129-774T= (n.2129-774T=) n.2964T= n.3172T= c.2381T= (p.Ile794=) c.1406T= (p.Ile469=) c.2120T= (p.Ile707=) c.3098T= (p.Ile1033=) n.2916T= n.3124T= | |
1 | g.197434827A>C | CA422672571 | CRB1 | c.2964A>C (p.Ile988=) c.1845A>C (p.Ile615=) c.1107A>C (p.Ile369=) c.2628A>C (p.Ile876=) c.2892A>C (p.Ile964=) c.2129-773A>C (n.2129-773A>C) n.2965A>C n.3173A>C c.2382A>C (p.Ile794=) c.1407A>C (p.Ile469=) c.2121A>C (p.Ile707=) c.3099A>C (p.Ile1033=) n.2917A>C n.3125A>C | COSMIC COSMIC |
1 | g.197434827A>G | CA344044037 | CRB1 | c.2964A>G (p.Ile988Met) c.1845A>G (p.Ile615Met) c.1107A>G (p.Ile369Met) c.2628A>G (p.Ile876Met) c.2892A>G (p.Ile964Met) c.2129-773A>G (n.2129-773A>G) n.2965A>G n.3173A>G c.2382A>G (p.Ile794Met) c.1407A>G (p.Ile469Met) c.2121A>G (p.Ile707Met) c.3099A>G (p.Ile1033Met) n.2917A>G n.3125A>G | |
1 | g.197434827A>T | CA422672572 | CRB1 | c.2964A>T (p.Ile988=) c.1845A>T (p.Ile615=) c.1107A>T (p.Ile369=) c.2628A>T (p.Ile876=) c.2892A>T (p.Ile964=) c.2129-773A>T (n.2129-773A>T) n.2965A>T n.3173A>T c.2382A>T (p.Ile794=) c.1407A>T (p.Ile469=) c.2121A>T (p.Ile707=) c.3099A>T (p.Ile1033=) n.2917A>T n.3125A>T | |
1 | g.197434828A= | CA1218068684 | CRB1 | c.2965A= (p.Ile989=) c.1846A= (p.Ile616=) c.1108A= (p.Ile370=) c.2629A= (p.Ile877=) c.2893A= (p.Ile965=) c.2129-772A= (n.2129-772A=) n.2966A= n.3174A= c.2383A= (p.Ile795=) c.1408A= (p.Ile470=) c.2122A= (p.Ile708=) c.3100A= (p.Ile1034=) n.2918A= n.3126A= | |
1 | g.197434828A>C | CA344044049 | CRB1 | c.2965A>C (p.Ile989Leu) c.1846A>C (p.Ile616Leu) c.1108A>C (p.Ile370Leu) c.2629A>C (p.Ile877Leu) c.2893A>C (p.Ile965Leu) c.2129-772A>C (n.2129-772A>C) n.2966A>C n.3174A>C c.2383A>C (p.Ile795Leu) c.1408A>C (p.Ile470Leu) c.2122A>C (p.Ile708Leu) c.3100A>C (p.Ile1034Leu) n.2918A>C n.3126A>C | gnomAD v4 |
1 | g.197434828A>G | CA344044050 | CRB1 | c.2965A>G (p.Ile989Val) c.1846A>G (p.Ile616Val) c.1108A>G (p.Ile370Val) c.2629A>G (p.Ile877Val) c.2893A>G (p.Ile965Val) c.2129-772A>G (n.2129-772A>G) n.2966A>G n.3174A>G c.2383A>G (p.Ile795Val) c.1408A>G (p.Ile470Val) c.2122A>G (p.Ile708Val) c.3100A>G (p.Ile1034Val) n.2918A>G n.3126A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434828A>T | CA344044059 | CRB1 | c.2965A>T (p.Ile989Leu) c.1846A>T (p.Ile616Leu) c.1108A>T (p.Ile370Leu) c.2629A>T (p.Ile877Leu) c.2893A>T (p.Ile965Leu) c.2129-772A>T (n.2129-772A>T) n.2966A>T n.3174A>T c.2383A>T (p.Ile795Leu) c.1408A>T (p.Ile470Leu) c.2122A>T (p.Ile708Leu) c.3100A>T (p.Ile1034Leu) n.2918A>T n.3126A>T | |
1 | g.197434829T>A | CA344044075 | CRB1 | c.2966T>A (p.Ile989Lys) c.1847T>A (p.Ile616Lys) c.1109T>A (p.Ile370Lys) c.2630T>A (p.Ile877Lys) c.2894T>A (p.Ile965Lys) c.2129-771T>A (n.2129-771T>A) n.2967T>A n.3175T>A c.2384T>A (p.Ile795Lys) c.1409T>A (p.Ile470Lys) c.2123T>A (p.Ile708Lys) c.3101T>A (p.Ile1034Lys) n.2919T>A n.3127T>A | |
1 | g.197434829T>C | CA344044069 | CRB1 | c.2966T>C (p.Ile989Thr) c.1847T>C (p.Ile616Thr) c.1109T>C (p.Ile370Thr) c.2630T>C (p.Ile877Thr) c.2894T>C (p.Ile965Thr) c.2129-771T>C (n.2129-771T>C) n.2967T>C n.3175T>C c.2384T>C (p.Ile795Thr) c.1409T>C (p.Ile470Thr) c.2123T>C (p.Ile708Thr) c.3101T>C (p.Ile1034Thr) n.2919T>C n.3127T>C | ClinVar |
1 | g.197434829T>G | CA344044073 | CRB1 | c.2966T>G (p.Ile989Arg) c.1847T>G (p.Ile616Arg) c.1109T>G (p.Ile370Arg) c.2630T>G (p.Ile877Arg) c.2894T>G (p.Ile965Arg) c.2129-771T>G (n.2129-771T>G) n.2967T>G n.3175T>G c.2384T>G (p.Ile795Arg) c.1409T>G (p.Ile470Arg) c.2123T>G (p.Ile708Arg) c.3101T>G (p.Ile1034Arg) n.2919T>G n.3127T>G | |
1 | g.197434830A>C | CA422672573 | CRB1 | c.2967A>C (p.Ile989=) c.1848A>C (p.Ile616=) c.1110A>C (p.Ile370=) c.2631A>C (p.Ile877=) c.2895A>C (p.Ile965=) c.2129-770A>C (n.2129-770A>C) n.2968A>C n.3176A>C c.2385A>C (p.Ile795=) c.1410A>C (p.Ile470=) c.2124A>C (p.Ile708=) c.3102A>C (p.Ile1034=) n.2920A>C n.3128A>C | |
1 | g.197434830A>G | CA344044077 | CRB1 | c.2967A>G (p.Ile989Met) c.1848A>G (p.Ile616Met) c.1110A>G (p.Ile370Met) c.2631A>G (p.Ile877Met) c.2895A>G (p.Ile965Met) c.2129-770A>G (n.2129-770A>G) n.2968A>G n.3176A>G c.2385A>G (p.Ile795Met) c.1410A>G (p.Ile470Met) c.2124A>G (p.Ile708Met) c.3102A>G (p.Ile1034Met) n.2920A>G n.3128A>G | |
1 | g.197434830A>T | CA422672574 | CRB1 | c.2967A>T (p.Ile989=) c.1848A>T (p.Ile616=) c.1110A>T (p.Ile370=) c.2631A>T (p.Ile877=) c.2895A>T (p.Ile965=) c.2129-770A>T (n.2129-770A>T) n.2968A>T n.3176A>T c.2385A>T (p.Ile795=) c.1410A>T (p.Ile470=) c.2124A>T (p.Ile708=) c.3102A>T (p.Ile1034=) n.2920A>T n.3128A>T | ClinVar |
1 | g.197434831T>A | CA1312252 | CRB1 | c.2968T>A (p.Leu990Met) c.1849T>A (p.Leu617Met) c.1111T>A (p.Leu371Met) c.2632T>A (p.Leu878Met) c.2896T>A (p.Leu966Met) c.2129-769T>A (n.2129-769T>A) n.2969T>A n.3177T>A c.2386T>A (p.Leu796Met) c.1411T>A (p.Leu471Met) c.2125T>A (p.Leu709Met) c.3103T>A (p.Leu1035Met) n.2921T>A n.3129T>A | dbSNP ExAC gnomAD v2 |
1 | g.197434831T>C | CA422672575 | CRB1 | c.2968T>C (p.Leu990=) c.1849T>C (p.Leu617=) c.1111T>C (p.Leu371=) c.2632T>C (p.Leu878=) c.2896T>C (p.Leu966=) c.2129-769T>C (n.2129-769T>C) n.2969T>C n.3177T>C c.2386T>C (p.Leu796=) c.1411T>C (p.Leu471=) c.2125T>C (p.Leu709=) c.3103T>C (p.Leu1035=) n.2921T>C n.3129T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434831T>G | CA344044091 | CRB1 | c.2968T>G (p.Leu990Val) c.1849T>G (p.Leu617Val) c.1111T>G (p.Leu371Val) c.2632T>G (p.Leu878Val) c.2896T>G (p.Leu966Val) c.2129-769T>G (n.2129-769T>G) n.2969T>G n.3177T>G c.2386T>G (p.Leu796Val) c.1411T>G (p.Leu471Val) c.2125T>G (p.Leu709Val) c.3103T>G (p.Leu1035Val) n.2921T>G n.3129T>G | |
1 | g.197434831T= | CA1218068685 | CRB1 | c.2968T= (p.Leu990=) c.1849T= (p.Leu617=) c.1111T= (p.Leu371=) c.2632T= (p.Leu878=) c.2896T= (p.Leu966=) c.2129-769T= (n.2129-769T=) n.2969T= n.3177T= c.2386T= (p.Leu796=) c.1411T= (p.Leu471=) c.2125T= (p.Leu709=) c.3103T= (p.Leu1035=) n.2921T= n.3129T= | |
1 | g.197434832del | CA2649670638 | CRB1 | c.2969del (p.Leu990CysfsTer?) c.1850del (p.Leu617CysfsTer?) c.1112del (p.Leu371CysfsTer?) c.2633del (p.Leu878CysfsTer?) c.2897del (p.Leu966CysfsTer?) c.2129-768del (n.2129-768del) n.2970del n.3178del c.2387del (p.Leu796CysfsTer?) c.1412del (p.Leu471CysfsTer?) c.2126del (p.Leu709CysfsTer?) c.3104del (p.Leu1035CysfsTer?) n.2922del n.3130del | ClinVar gnomAD v4 |
1 | g.197434832T>A | CA344044098 | CRB1 | c.2969T>A (p.Leu990Ter) c.1850T>A (p.Leu617Ter) c.1112T>A (p.Leu371Ter) c.2633T>A (p.Leu878Ter) c.2897T>A (p.Leu966Ter) c.2129-768T>A (n.2129-768T>A) n.2970T>A n.3178T>A c.2387T>A (p.Leu796Ter) c.1412T>A (p.Leu471Ter) c.2126T>A (p.Leu709Ter) c.3104T>A (p.Leu1035Ter) n.2922T>A n.3130T>A | |
1 | g.197434832T>C | CA344044102 | CRB1 | c.2969T>C (p.Leu990Ser) c.1850T>C (p.Leu617Ser) c.1112T>C (p.Leu371Ser) c.2633T>C (p.Leu878Ser) c.2897T>C (p.Leu966Ser) c.2129-768T>C (n.2129-768T>C) n.2970T>C n.3178T>C c.2387T>C (p.Leu796Ser) c.1412T>C (p.Leu471Ser) c.2126T>C (p.Leu709Ser) c.3104T>C (p.Leu1035Ser) n.2922T>C n.3130T>C | dbSNP |
1 | g.197434832T>G | CA344044110 | CRB1 | c.2969T>G (p.Leu990Trp) c.1850T>G (p.Leu617Trp) c.1112T>G (p.Leu371Trp) c.2633T>G (p.Leu878Trp) c.2897T>G (p.Leu966Trp) c.2129-768T>G (n.2129-768T>G) n.2970T>G n.3178T>G c.2387T>G (p.Leu796Trp) c.1412T>G (p.Leu471Trp) c.2126T>G (p.Leu709Trp) c.3104T>G (p.Leu1035Trp) n.2922T>G n.3130T>G | |
1 | g.197434832T= | CA1218068686 | CRB1 | c.2969T= (p.Leu990=) c.1850T= (p.Leu617=) c.1112T= (p.Leu371=) c.2633T= (p.Leu878=) c.2897T= (p.Leu966=) c.2129-768T= (n.2129-768T=) n.2970T= n.3178T= c.2387T= (p.Leu796=) c.1412T= (p.Leu471=) c.2126T= (p.Leu709=) c.3104T= (p.Leu1035=) n.2922T= n.3130T= | |
1 | g.197434833G>A | CA422672576 | CRB1 | c.2970G>A (p.Leu990=) c.1851G>A (p.Leu617=) c.1113G>A (p.Leu371=) c.2634G>A (p.Leu878=) c.2898G>A (p.Leu966=) c.2129-767G>A (n.2129-767G>A) n.2971G>A n.3179G>A c.2388G>A (p.Leu796=) c.1413G>A (p.Leu471=) c.2127G>A (p.Leu709=) c.3105G>A (p.Leu1035=) n.2923G>A n.3131G>A | |
1 | g.197434833G>C | CA344044115 | CRB1 | c.2970G>C (p.Leu990Phe) c.1851G>C (p.Leu617Phe) c.1113G>C (p.Leu371Phe) c.2634G>C (p.Leu878Phe) c.2898G>C (p.Leu966Phe) c.2129-767G>C (n.2129-767G>C) n.2971G>C n.3179G>C c.2388G>C (p.Leu796Phe) c.1413G>C (p.Leu471Phe) c.2127G>C (p.Leu709Phe) c.3105G>C (p.Leu1035Phe) n.2923G>C n.3131G>C | |
1 | g.197434833G>T | CA344044130 | CRB1 | c.2970G>T (p.Leu990Phe) c.1851G>T (p.Leu617Phe) c.1113G>T (p.Leu371Phe) c.2634G>T (p.Leu878Phe) c.2898G>T (p.Leu966Phe) c.2129-767G>T (n.2129-767G>T) n.2971G>T n.3179G>T c.2388G>T (p.Leu796Phe) c.1413G>T (p.Leu471Phe) c.2127G>T (p.Leu709Phe) c.3105G>T (p.Leu1035Phe) n.2923G>T n.3131G>T | |
1 | g.197434833_197434834delinsTT | CA2580061838 | CRB1 | c.2970_2971delinsTT (p.Leu990_His991delinsPheTyr) c.1851_1852delinsTT (p.Leu617_His618delinsPheTyr) c.1113_1114delinsTT (p.Leu371_His372delinsPheTyr) c.2634_2635delinsTT (p.Leu878_His879delinsPheTyr) c.2898_2899delinsTT (p.Leu966_His967delinsPheTyr) c.2129-767_2129-766delinsTT (n.2129-767_2129-766delinsTT) n.2971_2972delinsTT n.3179_3180delinsTT c.2388_2389delinsTT (p.Leu796_His797delinsPheTyr) c.1413_1414delinsTT (p.Leu471_His472delinsPheTyr) c.2127_2128delinsTT (p.Leu709_His710delinsPheTyr) c.3105_3106delinsTT (p.Leu1035_His1036delinsPheTyr) n.2923_2924delinsTT n.3131_3132delinsTT | ClinVar dbSNP |
1 | g.197434834C>A | CA344044136 | CRB1 | c.2971C>A (p.His991Asn) c.1852C>A (p.His618Asn) c.1114C>A (p.His372Asn) c.2635C>A (p.His879Asn) c.2899C>A (p.His967Asn) c.2129-766C>A (n.2129-766C>A) n.2972C>A n.3180C>A c.2389C>A (p.His797Asn) c.1414C>A (p.His472Asn) c.2128C>A (p.His710Asn) c.3106C>A (p.His1036Asn) n.2924C>A n.3132C>A | |
1 | g.197434834C>G | CA344044140 | CRB1 | c.2971C>G (p.His991Asp) c.1852C>G (p.His618Asp) c.1114C>G (p.His372Asp) c.2635C>G (p.His879Asp) c.2899C>G (p.His967Asp) c.2129-766C>G (n.2129-766C>G) n.2972C>G n.3180C>G c.2389C>G (p.His797Asp) c.1414C>G (p.His472Asp) c.2128C>G (p.His710Asp) c.3106C>G (p.His1036Asp) n.2924C>G n.3132C>G | |
1 | g.197434834C>T | CA344044142 | CRB1 | c.2971C>T (p.His991Tyr) c.1852C>T (p.His618Tyr) c.1114C>T (p.His372Tyr) c.2635C>T (p.His879Tyr) c.2899C>T (p.His967Tyr) c.2129-766C>T (n.2129-766C>T) n.2972C>T n.3180C>T c.2389C>T (p.His797Tyr) c.1414C>T (p.His472Tyr) c.2128C>T (p.His710Tyr) c.3106C>T (p.His1036Tyr) n.2924C>T n.3132C>T | |
1 | g.197434835A= | CA1218068687 | CRB1 | c.2972A= (p.His991=) c.1853A= (p.His618=) c.1115A= (p.His372=) c.2636A= (p.His879=) c.2900A= (p.His967=) c.2129-765A= (n.2129-765A=) n.2973A= n.3181A= c.2390A= (p.His797=) c.1415A= (p.His472=) c.2129A= (p.His710=) c.3107A= (p.His1036=) n.2925A= n.3133A= | |
1 | g.197434835A>C | CA344044146 | CRB1 | c.2972A>C (p.His991Pro) c.1853A>C (p.His618Pro) c.1115A>C (p.His372Pro) c.2636A>C (p.His879Pro) c.2900A>C (p.His967Pro) c.2129-765A>C (n.2129-765A>C) n.2973A>C n.3181A>C c.2390A>C (p.His797Pro) c.1415A>C (p.His472Pro) c.2129A>C (p.His710Pro) c.3107A>C (p.His1036Pro) n.2925A>C n.3133A>C | |
1 | g.197434835A>G | CA344044151 | CRB1 | c.2972A>G (p.His991Arg) c.1853A>G (p.His618Arg) c.1115A>G (p.His372Arg) c.2636A>G (p.His879Arg) c.2900A>G (p.His967Arg) c.2129-765A>G (n.2129-765A>G) n.2973A>G n.3181A>G c.2390A>G (p.His797Arg) c.1415A>G (p.His472Arg) c.2129A>G (p.His710Arg) c.3107A>G (p.His1036Arg) n.2925A>G n.3133A>G | gnomAD v4 |
1 | g.197434835A>T | CA344044152 | CRB1 | c.2972A>T (p.His991Leu) c.1853A>T (p.His618Leu) c.1115A>T (p.His372Leu) c.2636A>T (p.His879Leu) c.2900A>T (p.His967Leu) c.2129-765A>T (n.2129-765A>T) n.2973A>T n.3181A>T c.2390A>T (p.His797Leu) c.1415A>T (p.His472Leu) c.2129A>T (p.His710Leu) c.3107A>T (p.His1036Leu) n.2925A>T n.3133A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434836T>A | CA344044169 | CRB1 | c.2973T>A (p.His991Gln) c.1854T>A (p.His618Gln) c.1116T>A (p.His372Gln) c.2637T>A (p.His879Gln) c.2901T>A (p.His967Gln) c.2129-764T>A (n.2129-764T>A) n.2974T>A n.3182T>A c.2391T>A (p.His797Gln) c.1416T>A (p.His472Gln) c.2130T>A (p.His710Gln) c.3108T>A (p.His1036Gln) n.2926T>A n.3134T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434836T>C | CA422672577 | CRB1 | c.2973T>C (p.His991=) c.1854T>C (p.His618=) c.1116T>C (p.His372=) c.2637T>C (p.His879=) c.2901T>C (p.His967=) c.2129-764T>C (n.2129-764T>C) n.2974T>C n.3182T>C c.2391T>C (p.His797=) c.1416T>C (p.His472=) c.2130T>C (p.His710=) c.3108T>C (p.His1036=) n.2926T>C n.3134T>C | |
1 | g.197434836T>G | CA344044156 | CRB1 | c.2973T>G (p.His991Gln) c.1854T>G (p.His618Gln) c.1116T>G (p.His372Gln) c.2637T>G (p.His879Gln) c.2901T>G (p.His967Gln) c.2129-764T>G (n.2129-764T>G) n.2974T>G n.3182T>G c.2391T>G (p.His797Gln) c.1416T>G (p.His472Gln) c.2130T>G (p.His710Gln) c.3108T>G (p.His1036Gln) n.2926T>G n.3134T>G | |
1 | g.197434836T= | CA1218068688 | CRB1 | c.2973T= (p.His991=) c.1854T= (p.His618=) c.1116T= (p.His372=) c.2637T= (p.His879=) c.2901T= (p.His967=) c.2129-764T= (n.2129-764T=) n.2974T= n.3182T= c.2391T= (p.His797=) c.1416T= (p.His472=) c.2130T= (p.His710=) c.3108T= (p.His1036=) n.2926T= n.3134T= | |
1 | g.197434837G>A | CA344044175 | CRB1 | c.2974G>A (p.Ala992Thr) c.1855G>A (p.Ala619Thr) c.1117G>A (p.Ala373Thr) c.2638G>A (p.Ala880Thr) c.2902G>A (p.Ala968Thr) c.2129-763G>A (n.2129-763G>A) n.2975G>A n.3183G>A c.2392G>A (p.Ala798Thr) c.1417G>A (p.Ala473Thr) c.2131G>A (p.Ala711Thr) c.3109G>A (p.Ala1037Thr) n.2927G>A n.3135G>A | |
1 | g.197434837G>C | CA344044176 | CRB1 | c.2974G>C (p.Ala992Pro) c.1855G>C (p.Ala619Pro) c.1117G>C (p.Ala373Pro) c.2638G>C (p.Ala880Pro) c.2902G>C (p.Ala968Pro) c.2129-763G>C (n.2129-763G>C) n.2975G>C n.3183G>C c.2392G>C (p.Ala798Pro) c.1417G>C (p.Ala473Pro) c.2131G>C (p.Ala711Pro) c.3109G>C (p.Ala1037Pro) n.2927G>C n.3135G>C | |
1 | g.197434837G>T | CA344044177 | CRB1 | c.2974G>T (p.Ala992Ser) c.1855G>T (p.Ala619Ser) c.1117G>T (p.Ala373Ser) c.2638G>T (p.Ala880Ser) c.2902G>T (p.Ala968Ser) c.2129-763G>T (n.2129-763G>T) n.2975G>T n.3183G>T c.2392G>T (p.Ala798Ser) c.1417G>T (p.Ala473Ser) c.2131G>T (p.Ala711Ser) c.3109G>T (p.Ala1037Ser) n.2927G>T n.3135G>T | |
1 | g.197434838C>A | CA344044181 | CRB1 | c.2975C>A (p.Ala992Glu) c.1856C>A (p.Ala619Glu) c.1118C>A (p.Ala373Glu) c.2639C>A (p.Ala880Glu) c.2903C>A (p.Ala968Glu) c.2129-762C>A (n.2129-762C>A) n.2976C>A n.3184C>A c.2393C>A (p.Ala798Glu) c.1418C>A (p.Ala473Glu) c.2132C>A (p.Ala711Glu) c.3110C>A (p.Ala1037Glu) n.2928C>A n.3136C>A | |
1 | g.197434838C>G | CA344044184 | CRB1 | c.2975C>G (p.Ala992Gly) c.1856C>G (p.Ala619Gly) c.1118C>G (p.Ala373Gly) c.2639C>G (p.Ala880Gly) c.2903C>G (p.Ala968Gly) c.2129-762C>G (n.2129-762C>G) n.2976C>G n.3184C>G c.2393C>G (p.Ala798Gly) c.1418C>G (p.Ala473Gly) c.2132C>G (p.Ala711Gly) c.3110C>G (p.Ala1037Gly) n.2928C>G n.3136C>G | |
1 | g.197434838C>T | CA344044188 | CRB1 | c.2975C>T (p.Ala992Val) c.1856C>T (p.Ala619Val) c.1118C>T (p.Ala373Val) c.2639C>T (p.Ala880Val) c.2903C>T (p.Ala968Val) c.2129-762C>T (n.2129-762C>T) n.2976C>T n.3184C>T c.2393C>T (p.Ala798Val) c.1418C>T (p.Ala473Val) c.2132C>T (p.Ala711Val) c.3110C>T (p.Ala1037Val) n.2928C>T n.3136C>T | |
1 | g.197434839A= | CA1143413441 | CRB1 | c.2976A= (p.Ala992=) c.1857A= (p.Ala619=) c.1119A= (p.Ala373=) c.2640A= (p.Ala880=) c.2904A= (p.Ala968=) c.2129-761A= (n.2129-761A=) n.2977A= n.3185A= c.2394A= (p.Ala798=) c.1419A= (p.Ala473=) c.2133A= (p.Ala711=) c.3111A= (p.Ala1037=) n.2929A= n.3137A= | |
1 | g.197434839A>C | CA422672578 | CRB1 | c.2976A>C (p.Ala992=) c.1857A>C (p.Ala619=) c.1119A>C (p.Ala373=) c.2640A>C (p.Ala880=) c.2904A>C (p.Ala968=) c.2129-761A>C (n.2129-761A>C) n.2977A>C n.3185A>C c.2394A>C (p.Ala798=) c.1419A>C (p.Ala473=) c.2133A>C (p.Ala711=) c.3111A>C (p.Ala1037=) n.2929A>C n.3137A>C | |
1 | g.197434839A>G | CA1312253 | CRB1 | c.2976A>G (p.Ala992=) c.1857A>G (p.Ala619=) c.1119A>G (p.Ala373=) c.2640A>G (p.Ala880=) c.2904A>G (p.Ala968=) c.2129-761A>G (n.2129-761A>G) n.2977A>G n.3185A>G c.2394A>G (p.Ala798=) c.1419A>G (p.Ala473=) c.2133A>G (p.Ala711=) c.3111A>G (p.Ala1037=) n.2929A>G n.3137A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434839A>T | CA422672579 | CRB1 | c.2976A>T (p.Ala992=) c.1857A>T (p.Ala619=) c.1119A>T (p.Ala373=) c.2640A>T (p.Ala880=) c.2904A>T (p.Ala968=) c.2129-761A>T (n.2129-761A>T) n.2977A>T n.3185A>T c.2394A>T (p.Ala798=) c.1419A>T (p.Ala473=) c.2133A>T (p.Ala711=) c.3111A>T (p.Ala1037=) n.2929A>T n.3137A>T | |
1 | g.197434840G>A | CA1312254 | CRB1 | c.2977G>A (p.Glu993Lys) c.1858G>A (p.Glu620Lys) c.1120G>A (p.Glu374Lys) c.2641G>A (p.Glu881Lys) c.2905G>A (p.Glu969Lys) c.2129-760G>A (n.2129-760G>A) n.2978G>A n.3186G>A c.2395G>A (p.Glu799Lys) c.1420G>A (p.Glu474Lys) c.2134G>A (p.Glu712Lys) c.3112G>A (p.Glu1038Lys) n.2930G>A n.3138G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434840G>C | CA344044202 | CRB1 | c.2977G>C (p.Glu993Gln) c.1858G>C (p.Glu620Gln) c.1120G>C (p.Glu374Gln) c.2641G>C (p.Glu881Gln) c.2905G>C (p.Glu969Gln) c.2129-760G>C (n.2129-760G>C) n.2978G>C n.3186G>C c.2395G>C (p.Glu799Gln) c.1420G>C (p.Glu474Gln) c.2134G>C (p.Glu712Gln) c.3112G>C (p.Glu1038Gln) n.2930G>C n.3138G>C | COSMIC COSMIC |
1 | g.197434840G= | CA1142405515 | CRB1 | c.2977G= (p.Glu993=) c.1858G= (p.Glu620=) c.1120G= (p.Glu374=) c.2641G= (p.Glu881=) c.2905G= (p.Glu969=) c.2129-760G= (n.2129-760G=) n.2978G= n.3186G= c.2395G= (p.Glu799=) c.1420G= (p.Glu474=) c.2134G= (p.Glu712=) c.3112G= (p.Glu1038=) n.2930G= n.3138G= | |
1 | g.197434840G>T | CA344044208 | CRB1 | c.2977G>T (p.Glu993Ter) c.1858G>T (p.Glu620Ter) c.1120G>T (p.Glu374Ter) c.2641G>T (p.Glu881Ter) c.2905G>T (p.Glu969Ter) c.2129-760G>T (n.2129-760G>T) n.2978G>T n.3186G>T c.2395G>T (p.Glu799Ter) c.1420G>T (p.Glu474Ter) c.2134G>T (p.Glu712Ter) c.3112G>T (p.Glu1038Ter) n.2930G>T n.3138G>T | |
1 | g.197434841A= | CA1218068689 | CRB1 | c.2978A= (p.Glu993=) c.1859A= (p.Glu620=) c.1121A= (p.Glu374=) c.2642A= (p.Glu881=) c.2906A= (p.Glu969=) c.2129-759A= (n.2129-759A=) n.2979A= n.3187A= c.2396A= (p.Glu799=) c.1421A= (p.Glu474=) c.2135A= (p.Glu712=) c.3113A= (p.Glu1038=) n.2931A= n.3139A= | |
1 | g.197434841A>C | CA344044223 | CRB1 | c.2978A>C (p.Glu993Ala) c.1859A>C (p.Glu620Ala) c.1121A>C (p.Glu374Ala) c.2642A>C (p.Glu881Ala) c.2906A>C (p.Glu969Ala) c.2129-759A>C (n.2129-759A>C) n.2979A>C n.3187A>C c.2396A>C (p.Glu799Ala) c.1421A>C (p.Glu474Ala) c.2135A>C (p.Glu712Ala) c.3113A>C (p.Glu1038Ala) n.2931A>C n.3139A>C | |
1 | g.197434841A>G | CA344044226 | CRB1 | c.2978A>G (p.Glu993Gly) c.1859A>G (p.Glu620Gly) c.1121A>G (p.Glu374Gly) c.2642A>G (p.Glu881Gly) c.2906A>G (p.Glu969Gly) c.2129-759A>G (n.2129-759A>G) n.2979A>G n.3187A>G c.2396A>G (p.Glu799Gly) c.1421A>G (p.Glu474Gly) c.2135A>G (p.Glu712Gly) c.3113A>G (p.Glu1038Gly) n.2931A>G n.3139A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434841A>T | CA344044233 | CRB1 | c.2978A>T (p.Glu993Val) c.1859A>T (p.Glu620Val) c.1121A>T (p.Glu374Val) c.2642A>T (p.Glu881Val) c.2906A>T (p.Glu969Val) c.2129-759A>T (n.2129-759A>T) n.2979A>T n.3187A>T c.2396A>T (p.Glu799Val) c.1421A>T (p.Glu474Val) c.2135A>T (p.Glu712Val) c.3113A>T (p.Glu1038Val) n.2931A>T n.3139A>T | |
1 | g.197434844_197434845del | CA2586967863 | CRB1 | c.2981_2982del (p.Lys994ArgfsTer3) c.1862_1863del (p.Lys621ArgfsTer3) c.1124_1125del (p.Lys375ArgfsTer3) c.2645_2646del (p.Lys882ArgfsTer3) c.2909_2910del (p.Lys970ArgfsTer3) c.2129-756_2129-755del (n.2129-756_2129-755del) n.2982_2983del n.3190_3191del c.2399_2400del (p.Lys800ArgfsTer3) c.1424_1425del (p.Lys475ArgfsTer3) c.2138_2139del (p.Lys713ArgfsTer3) c.3116_3117del (p.Lys1039ArgfsTer3) n.2934_2935del n.3142_3143del | ClinVar |
1 | g.197434842A= | CA1146551840 | CRB1 | c.2979A= (p.Glu993=) c.1860A= (p.Glu620=) c.1122A= (p.Glu374=) c.2643A= (p.Glu881=) c.2907A= (p.Glu969=) c.2129-758A= (n.2129-758A=) n.2980A= n.3188A= c.2397A= (p.Glu799=) c.1422A= (p.Glu474=) c.2136A= (p.Glu712=) c.3114A= (p.Glu1038=) n.2932A= n.3140A= | |
1 | g.197434842A>C | CA344044237 | CRB1 | c.2979A>C (p.Glu993Asp) c.1860A>C (p.Glu620Asp) c.1122A>C (p.Glu374Asp) c.2643A>C (p.Glu881Asp) c.2907A>C (p.Glu969Asp) c.2129-758A>C (n.2129-758A>C) n.2980A>C n.3188A>C c.2397A>C (p.Glu799Asp) c.1422A>C (p.Glu474Asp) c.2136A>C (p.Glu712Asp) c.3114A>C (p.Glu1038Asp) n.2932A>C n.3140A>C | |
1 | g.197434842A>G | CA1312255 | CRB1 | c.2979A>G (p.Glu993=) c.1860A>G (p.Glu620=) c.1122A>G (p.Glu374=) c.2643A>G (p.Glu881=) c.2907A>G (p.Glu969=) c.2129-758A>G (n.2129-758A>G) n.2980A>G n.3188A>G c.2397A>G (p.Glu799=) c.1422A>G (p.Glu474=) c.2136A>G (p.Glu712=) c.3114A>G (p.Glu1038=) n.2932A>G n.3140A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434842A>T | CA344044242 | CRB1 | c.2979A>T (p.Glu993Asp) c.1860A>T (p.Glu620Asp) c.1122A>T (p.Glu374Asp) c.2643A>T (p.Glu881Asp) c.2907A>T (p.Glu969Asp) c.2129-758A>T (n.2129-758A>T) n.2980A>T n.3188A>T c.2397A>T (p.Glu799Asp) c.1422A>T (p.Glu474Asp) c.2136A>T (p.Glu712Asp) c.3114A>T (p.Glu1038Asp) n.2932A>T n.3140A>T | |
1 | g.197434843A>C | CA344044251 | CRB1 | c.2980A>C (p.Lys994Gln) c.1861A>C (p.Lys621Gln) c.1123A>C (p.Lys375Gln) c.2644A>C (p.Lys882Gln) c.2908A>C (p.Lys970Gln) c.2129-757A>C (n.2129-757A>C) n.2981A>C n.3189A>C c.2398A>C (p.Lys800Gln) c.1423A>C (p.Lys475Gln) c.2137A>C (p.Lys713Gln) c.3115A>C (p.Lys1039Gln) n.2933A>C n.3141A>C | |
1 | g.197434843A>G | CA344044254 | CRB1 | c.2980A>G (p.Lys994Glu) c.1861A>G (p.Lys621Glu) c.1123A>G (p.Lys375Glu) c.2644A>G (p.Lys882Glu) c.2908A>G (p.Lys970Glu) c.2129-757A>G (n.2129-757A>G) n.2981A>G n.3189A>G c.2398A>G (p.Lys800Glu) c.1423A>G (p.Lys475Glu) c.2137A>G (p.Lys713Glu) c.3115A>G (p.Lys1039Glu) n.2933A>G n.3141A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197434843A>T | CA344044273 | CRB1 | c.2980A>T (p.Lys994Ter) c.1861A>T (p.Lys621Ter) c.1123A>T (p.Lys375Ter) c.2644A>T (p.Lys882Ter) c.2908A>T (p.Lys970Ter) c.2129-757A>T (n.2129-757A>T) n.2981A>T n.3189A>T c.2398A>T (p.Lys800Ter) c.1423A>T (p.Lys475Ter) c.2137A>T (p.Lys713Ter) c.3115A>T (p.Lys1039Ter) n.2933A>T n.3141A>T | |
1 | g.197434845_197434927dup | CA2740090447 | CRB1 | c.2982_3064dup (p.Ser1022LysfsTer28) c.1863_1945dup (p.Ser649LysfsTer28) c.1125_1207dup (p.Ser403LysfsTer28) c.2646_2728dup (p.Ser910LysfsTer28) c.2910_2992dup (p.Ser998LysfsTer28) c.2129-755_2129-673dup (n.2129-755_2129-673dup) n.2983_3065dup n.3191_3273dup c.2400_2482dup (p.Ser828LysfsTer28) c.1425_1507dup (p.Ser503LysfsTer28) c.2139_2221dup (p.Ser741LysfsTer28) c.3117_3199dup (p.Ser1067LysfsTer28) n.2935_3017dup n.3143_3225dup | ClinVar |
1 | g.197434844A>C | CA344044278 | CRB1 | c.2981A>C (p.Lys994Thr) c.1862A>C (p.Lys621Thr) c.1124A>C (p.Lys375Thr) c.2645A>C (p.Lys882Thr) c.2909A>C (p.Lys970Thr) c.2129-756A>C (n.2129-756A>C) n.2982A>C n.3190A>C c.2399A>C (p.Lys800Thr) c.1424A>C (p.Lys475Thr) c.2138A>C (p.Lys713Thr) c.3116A>C (p.Lys1039Thr) n.2934A>C n.3142A>C | |
1 | g.197434844A>G | CA344044279 | CRB1 | c.2981A>G (p.Lys994Arg) c.1862A>G (p.Lys621Arg) c.1124A>G (p.Lys375Arg) c.2645A>G (p.Lys882Arg) c.2909A>G (p.Lys970Arg) c.2129-756A>G (n.2129-756A>G) n.2982A>G n.3190A>G c.2399A>G (p.Lys800Arg) c.1424A>G (p.Lys475Arg) c.2138A>G (p.Lys713Arg) c.3116A>G (p.Lys1039Arg) n.2934A>G n.3142A>G | |
1 | g.197434844A>T | CA344044280 | CRB1 | c.2981A>T (p.Lys994Ile) c.1862A>T (p.Lys621Ile) c.1124A>T (p.Lys375Ile) c.2645A>T (p.Lys882Ile) c.2909A>T (p.Lys970Ile) c.2129-756A>T (n.2129-756A>T) n.2982A>T n.3190A>T c.2399A>T (p.Lys800Ile) c.1424A>T (p.Lys475Ile) c.2138A>T (p.Lys713Ile) c.3116A>T (p.Lys1039Ile) n.2934A>T n.3142A>T | |
1 | g.197434845A>C | CA344044288 | CRB1 | c.2982A>C (p.Lys994Asn) c.1863A>C (p.Lys621Asn) c.1125A>C (p.Lys375Asn) c.2646A>C (p.Lys882Asn) c.2910A>C (p.Lys970Asn) c.2129-755A>C (n.2129-755A>C) n.2983A>C n.3191A>C c.2400A>C (p.Lys800Asn) c.1425A>C (p.Lys475Asn) c.2139A>C (p.Lys713Asn) c.3117A>C (p.Lys1039Asn) n.2935A>C n.3143A>C | |
1 | g.197434845A>G | CA422672580 | CRB1 | c.2982A>G (p.Lys994=) c.1863A>G (p.Lys621=) c.1125A>G (p.Lys375=) c.2646A>G (p.Lys882=) c.2910A>G (p.Lys970=) c.2129-755A>G (n.2129-755A>G) n.2983A>G n.3191A>G c.2400A>G (p.Lys800=) c.1425A>G (p.Lys475=) c.2139A>G (p.Lys713=) c.3117A>G (p.Lys1039=) n.2935A>G n.3143A>G | |
1 | g.197434845A>T | CA344044291 | CRB1 | c.2982A>T (p.Lys994Asn) c.1863A>T (p.Lys621Asn) c.1125A>T (p.Lys375Asn) c.2646A>T (p.Lys882Asn) c.2910A>T (p.Lys970Asn) c.2129-755A>T (n.2129-755A>T) n.2983A>T n.3191A>T c.2400A>T (p.Lys800Asn) c.1425A>T (p.Lys475Asn) c.2139A>T (p.Lys713Asn) c.3117A>T (p.Lys1039Asn) n.2935A>T n.3143A>T | |
1 | g.197434846G>A | CA1312256 | CRB1 | c.2983G>A (p.Glu995Lys) c.1864G>A (p.Glu622Lys) c.1126G>A (p.Glu376Lys) c.2647G>A (p.Glu883Lys) c.2911G>A (p.Glu971Lys) c.2129-754G>A (n.2129-754G>A) n.2984G>A n.3192G>A c.2401G>A (p.Glu801Lys) c.1426G>A (p.Glu476Lys) c.2140G>A (p.Glu714Lys) c.3118G>A (p.Glu1040Lys) n.2936G>A n.3144G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.197434846G>C | CA344044299 | CRB1 | c.2983G>C (p.Glu995Gln) c.1864G>C (p.Glu622Gln) c.1126G>C (p.Glu376Gln) c.2647G>C (p.Glu883Gln) c.2911G>C (p.Glu971Gln) c.2129-754G>C (n.2129-754G>C) n.2984G>C n.3192G>C c.2401G>C (p.Glu801Gln) c.1426G>C (p.Glu476Gln) c.2140G>C (p.Glu714Gln) c.3118G>C (p.Glu1040Gln) n.2936G>C n.3144G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434846G= | CA1140762958 | CRB1 | c.2983G= (p.Glu995=) c.1864G= (p.Glu622=) c.1126G= (p.Glu376=) c.2647G= (p.Glu883=) c.2911G= (p.Glu971=) c.2129-754G= (n.2129-754G=) n.2984G= n.3192G= c.2401G= (p.Glu801=) c.1426G= (p.Glu476=) c.2140G= (p.Glu714=) c.3118G= (p.Glu1040=) n.2936G= n.3144G= | |
1 | g.197434846G>T | CA228028 | CRB1 | c.2983G>T (p.Glu995Ter) c.1864G>T (p.Glu622Ter) c.1126G>T (p.Glu376Ter) c.2647G>T (p.Glu883Ter) c.2911G>T (p.Glu971Ter) c.2129-754G>T (n.2129-754G>T) n.2984G>T n.3192G>T c.2401G>T (p.Glu801Ter) c.1426G>T (p.Glu476Ter) c.2140G>T (p.Glu714Ter) c.3118G>T (p.Glu1040Ter) n.2936G>T n.3144G>T | ClinVar dbSNP |
1 | g.197434847A= | CA1218068690 | CRB1 | c.2984A= (p.Glu995=) c.1865A= (p.Glu622=) c.1127A= (p.Glu376=) c.2648A= (p.Glu883=) c.2912A= (p.Glu971=) c.2129-753A= (n.2129-753A=) n.2985A= n.3193A= c.2402A= (p.Glu801=) c.1427A= (p.Glu476=) c.2141A= (p.Glu714=) c.3119A= (p.Glu1040=) n.2937A= n.3145A= | |
1 | g.197434847A>C | CA344044301 | CRB1 | c.2984A>C (p.Glu995Ala) c.1865A>C (p.Glu622Ala) c.1127A>C (p.Glu376Ala) c.2648A>C (p.Glu883Ala) c.2912A>C (p.Glu971Ala) c.2129-753A>C (n.2129-753A>C) n.2985A>C n.3193A>C c.2402A>C (p.Glu801Ala) c.1427A>C (p.Glu476Ala) c.2141A>C (p.Glu714Ala) c.3119A>C (p.Glu1040Ala) n.2937A>C n.3145A>C | |
1 | g.197434847A>G | CA1312257 | CRB1 | c.2984A>G (p.Glu995Gly) c.1865A>G (p.Glu622Gly) c.1127A>G (p.Glu376Gly) c.2648A>G (p.Glu883Gly) c.2912A>G (p.Glu971Gly) c.2129-753A>G (n.2129-753A>G) n.2985A>G n.3193A>G c.2402A>G (p.Glu801Gly) c.1427A>G (p.Glu476Gly) c.2141A>G (p.Glu714Gly) c.3119A>G (p.Glu1040Gly) n.2937A>G n.3145A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434847A>T | CA344044305 | CRB1 | c.2984A>T (p.Glu995Val) c.1865A>T (p.Glu622Val) c.1127A>T (p.Glu376Val) c.2648A>T (p.Glu883Val) c.2912A>T (p.Glu971Val) c.2129-753A>T (n.2129-753A>T) n.2985A>T n.3193A>T c.2402A>T (p.Glu801Val) c.1427A>T (p.Glu476Val) c.2141A>T (p.Glu714Val) c.3119A>T (p.Glu1040Val) n.2937A>T n.3145A>T | COSMIC COSMIC |
1 | g.197434848G>A | CA422672582 | CRB1 | c.2985G>A (p.Glu995=) c.1866G>A (p.Glu622=) c.1128G>A (p.Glu376=) c.2649G>A (p.Glu883=) c.2913G>A (p.Glu971=) c.2129-752G>A (n.2129-752G>A) n.2986G>A n.3194G>A c.2403G>A (p.Glu801=) c.1428G>A (p.Glu476=) c.2142G>A (p.Glu714=) c.3120G>A (p.Glu1040=) n.2938G>A n.3146G>A | gnomAD v4 |
1 | g.197434848G>C | CA344044312 | CRB1 | c.2985G>C (p.Glu995Asp) c.1866G>C (p.Glu622Asp) c.1128G>C (p.Glu376Asp) c.2649G>C (p.Glu883Asp) c.2913G>C (p.Glu971Asp) c.2129-752G>C (n.2129-752G>C) n.2986G>C n.3194G>C c.2403G>C (p.Glu801Asp) c.1428G>C (p.Glu476Asp) c.2142G>C (p.Glu714Asp) c.3120G>C (p.Glu1040Asp) n.2938G>C n.3146G>C | |
1 | g.197434848G= | CA1148563041 | CRB1 | c.2985G= (p.Glu995=) c.1866G= (p.Glu622=) c.1128G= (p.Glu376=) c.2649G= (p.Glu883=) c.2913G= (p.Glu971=) c.2129-752G= (n.2129-752G=) n.2986G= n.3194G= c.2403G= (p.Glu801=) c.1428G= (p.Glu476=) c.2142G= (p.Glu714=) c.3120G= (p.Glu1040=) n.2938G= n.3146G= | |
1 | g.197434848G>T | CA1312258 | CRB1 | c.2985G>T (p.Glu995Asp) c.1866G>T (p.Glu622Asp) c.1128G>T (p.Glu376Asp) c.2649G>T (p.Glu883Asp) c.2913G>T (p.Glu971Asp) c.2129-752G>T (n.2129-752G>T) n.2986G>T n.3194G>T c.2403G>T (p.Glu801Asp) c.1428G>T (p.Glu476Asp) c.2142G>T (p.Glu714Asp) c.3120G>T (p.Glu1040Asp) n.2938G>T n.3146G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434849C>A | CA344044315 | CRB1 | c.2986C>A (p.Pro996Thr) c.1867C>A (p.Pro623Thr) c.1129C>A (p.Pro377Thr) c.2650C>A (p.Pro884Thr) c.2914C>A (p.Pro972Thr) c.2129-751C>A (n.2129-751C>A) n.2987C>A n.3195C>A c.2404C>A (p.Pro802Thr) c.1429C>A (p.Pro477Thr) c.2143C>A (p.Pro715Thr) c.3121C>A (p.Pro1041Thr) n.2939C>A n.3147C>A | gnomAD v4 |
1 | g.197434849C>G | CA344044317 | CRB1 | c.2986C>G (p.Pro996Ala) c.1867C>G (p.Pro623Ala) c.1129C>G (p.Pro377Ala) c.2650C>G (p.Pro884Ala) c.2914C>G (p.Pro972Ala) c.2129-751C>G (n.2129-751C>G) n.2987C>G n.3195C>G c.2404C>G (p.Pro802Ala) c.1429C>G (p.Pro477Ala) c.2143C>G (p.Pro715Ala) c.3121C>G (p.Pro1041Ala) n.2939C>G n.3147C>G | gnomAD v4 |
1 | g.197434849C>T | CA344044320 | CRB1 | c.2986C>T (p.Pro996Ser) c.1867C>T (p.Pro623Ser) c.1129C>T (p.Pro377Ser) c.2650C>T (p.Pro884Ser) c.2914C>T (p.Pro972Ser) c.2129-751C>T (n.2129-751C>T) n.2987C>T n.3195C>T c.2404C>T (p.Pro802Ser) c.1429C>T (p.Pro477Ser) c.2143C>T (p.Pro715Ser) c.3121C>T (p.Pro1041Ser) n.2939C>T n.3147C>T | |
1 | g.197434849_197434850insATTTGCAATAC | CA1218068691 | CRB1 | c.2986_2987insATTTGCAATAC (p.Pro996HisfsTer30) c.1867_1868insATTTGCAATAC (p.Pro623HisfsTer30) c.1129_1130insATTTGCAATAC (p.Pro377HisfsTer30) c.2650_2651insATTTGCAATAC (p.Pro884HisfsTer30) c.2914_2915insATTTGCAATAC (p.Pro972HisfsTer30) c.2129-751_2129-750insATTTGCAATAC (n.2129-751_2129-750insATTTGCAATAC) n.2987_2988insATTTGCAATAC n.3195_3196insATTTGCAATAC c.2404_2405insATTTGCAATAC (p.Pro802HisfsTer30) c.1429_1430insATTTGCAATAC (p.Pro477HisfsTer30) c.2143_2144insATTTGCAATAC (p.Pro715HisfsTer30) c.3121_3122insATTTGCAATAC (p.Pro1041HisfsTer30) n.2939_2940insATTTGCAATAC n.3147_3148insATTTGCAATAC | dbSNP |
1 | g.197434850C>A | CA344044326 | CRB1 | c.2987C>A (p.Pro996His) c.1868C>A (p.Pro623His) c.1130C>A (p.Pro377His) c.2651C>A (p.Pro884His) c.2915C>A (p.Pro972His) c.2129-750C>A (n.2129-750C>A) n.2988C>A n.3196C>A c.2405C>A (p.Pro802His) c.1430C>A (p.Pro477His) c.2144C>A (p.Pro715His) c.3122C>A (p.Pro1041His) n.2940C>A n.3148C>A | |
1 | g.197434850C>G | CA344044327 | CRB1 | c.2987C>G (p.Pro996Arg) c.1868C>G (p.Pro623Arg) c.1130C>G (p.Pro377Arg) c.2651C>G (p.Pro884Arg) c.2915C>G (p.Pro972Arg) c.2129-750C>G (n.2129-750C>G) n.2988C>G n.3196C>G c.2405C>G (p.Pro802Arg) c.1430C>G (p.Pro477Arg) c.2144C>G (p.Pro715Arg) c.3122C>G (p.Pro1041Arg) n.2940C>G n.3148C>G | |
1 | g.197434850C>T | CA344044328 | CRB1 | c.2987C>T (p.Pro996Leu) c.1868C>T (p.Pro623Leu) c.1130C>T (p.Pro377Leu) c.2651C>T (p.Pro884Leu) c.2915C>T (p.Pro972Leu) c.2129-750C>T (n.2129-750C>T) n.2988C>T n.3196C>T c.2405C>T (p.Pro802Leu) c.1430C>T (p.Pro477Leu) c.2144C>T (p.Pro715Leu) c.3122C>T (p.Pro1041Leu) n.2940C>T n.3148C>T | |
1 | g.197434851T>A | CA422672585 | CRB1 | c.2988T>A (p.Pro996=) c.1869T>A (p.Pro623=) c.1131T>A (p.Pro377=) c.2652T>A (p.Pro884=) c.2916T>A (p.Pro972=) c.2129-749T>A (n.2129-749T>A) n.2989T>A n.3197T>A c.2406T>A (p.Pro802=) c.1431T>A (p.Pro477=) c.2145T>A (p.Pro715=) c.3123T>A (p.Pro1041=) n.2941T>A n.3149T>A | |
1 | g.197434851T>C | CA422672586 | CRB1 | c.2988T>C (p.Pro996=) c.1869T>C (p.Pro623=) c.1131T>C (p.Pro377=) c.2652T>C (p.Pro884=) c.2916T>C (p.Pro972=) c.2129-749T>C (n.2129-749T>C) n.2989T>C n.3197T>C c.2406T>C (p.Pro802=) c.1431T>C (p.Pro477=) c.2145T>C (p.Pro715=) c.3123T>C (p.Pro1041=) n.2941T>C n.3149T>C | |
1 | g.197434851T>G | CA422672587 | CRB1 | c.2988T>G (p.Pro996=) c.1869T>G (p.Pro623=) c.1131T>G (p.Pro377=) c.2652T>G (p.Pro884=) c.2916T>G (p.Pro972=) c.2129-749T>G (n.2129-749T>G) n.2989T>G n.3197T>G c.2406T>G (p.Pro802=) c.1431T>G (p.Pro477=) c.2145T>G (p.Pro715=) c.3123T>G (p.Pro1041=) n.2941T>G n.3149T>G | |
1 | g.197434851T= | CA1218068692 | CRB1 | c.2988T= (p.Pro996=) c.1869T= (p.Pro623=) c.1131T= (p.Pro377=) c.2652T= (p.Pro884=) c.2916T= (p.Pro972=) c.2129-749T= (n.2129-749T=) n.2989T= n.3197T= c.2406T= (p.Pro802=) c.1431T= (p.Pro477=) c.2145T= (p.Pro715=) c.3123T= (p.Pro1041=) n.2941T= n.3149T= | |
1 | g.197434851_197434852insAATGA | CA1218068693 | CRB1 | c.2988_2989insAATGA (p.Glu997AsnfsTer27) c.1869_1870insAATGA (p.Glu624AsnfsTer27) c.1131_1132insAATGA (p.Glu378AsnfsTer27) c.2652_2653insAATGA (p.Glu885AsnfsTer27) c.2916_2917insAATGA (p.Glu973AsnfsTer27) c.2129-749_2129-748insAATGA (n.2129-749_2129-748insAATGA) n.2989_2990insAATGA n.3197_3198insAATGA c.2406_2407insAATGA (p.Glu803AsnfsTer27) c.1431_1432insAATGA (p.Glu478AsnfsTer27) c.2145_2146insAATGA (p.Glu716AsnfsTer27) c.3123_3124insAATGA (p.Glu1042AsnfsTer27) n.2941_2942insAATGA n.3149_3150insAATGA | dbSNP |
1 | g.197434852G>A | CA344044331 | CRB1 | c.2989G>A (p.Glu997Lys) c.1870G>A (p.Glu624Lys) c.1132G>A (p.Glu378Lys) c.2653G>A (p.Glu885Lys) c.2917G>A (p.Glu973Lys) c.2129-748G>A (n.2129-748G>A) n.2990G>A n.3198G>A c.2407G>A (p.Glu803Lys) c.1432G>A (p.Glu478Lys) c.2146G>A (p.Glu716Lys) c.3124G>A (p.Glu1042Lys) n.2942G>A n.3150G>A | |
1 | g.197434852G>C | CA344044329 | CRB1 | c.2989G>C (p.Glu997Gln) c.1870G>C (p.Glu624Gln) c.1132G>C (p.Glu378Gln) c.2653G>C (p.Glu885Gln) c.2917G>C (p.Glu973Gln) c.2129-748G>C (n.2129-748G>C) n.2990G>C n.3198G>C c.2407G>C (p.Glu803Gln) c.1432G>C (p.Glu478Gln) c.2146G>C (p.Glu716Gln) c.3124G>C (p.Glu1042Gln) n.2942G>C n.3150G>C | |
1 | g.197434852G>T | CA344044330 | CRB1 | c.2989G>T (p.Glu997Ter) c.1870G>T (p.Glu624Ter) c.1132G>T (p.Glu378Ter) c.2653G>T (p.Glu885Ter) c.2917G>T (p.Glu973Ter) c.2129-748G>T (n.2129-748G>T) n.2990G>T n.3198G>T c.2407G>T (p.Glu803Ter) c.1432G>T (p.Glu478Ter) c.2146G>T (p.Glu716Ter) c.3124G>T (p.Glu1042Ter) n.2942G>T n.3150G>T | gnomAD v4 |
1 | g.197434853A>C | CA344044332 | CRB1 | c.2990A>C (p.Glu997Ala) c.1871A>C (p.Glu624Ala) c.1133A>C (p.Glu378Ala) c.2654A>C (p.Glu885Ala) c.2918A>C (p.Glu973Ala) c.2129-747A>C (n.2129-747A>C) n.2991A>C n.3199A>C c.2408A>C (p.Glu803Ala) c.1433A>C (p.Glu478Ala) c.2147A>C (p.Glu716Ala) c.3125A>C (p.Glu1042Ala) n.2943A>C n.3151A>C | |
1 | g.197434853A>G | CA344044333 | CRB1 | c.2990A>G (p.Glu997Gly) c.1871A>G (p.Glu624Gly) c.1133A>G (p.Glu378Gly) c.2654A>G (p.Glu885Gly) c.2918A>G (p.Glu973Gly) c.2129-747A>G (n.2129-747A>G) n.2991A>G n.3199A>G c.2408A>G (p.Glu803Gly) c.1433A>G (p.Glu478Gly) c.2147A>G (p.Glu716Gly) c.3125A>G (p.Glu1042Gly) n.2943A>G n.3151A>G | |
1 | g.197434853A>T | CA344044334 | CRB1 | c.2990A>T (p.Glu997Val) c.1871A>T (p.Glu624Val) c.1133A>T (p.Glu378Val) c.2654A>T (p.Glu885Val) c.2918A>T (p.Glu973Val) c.2129-747A>T (n.2129-747A>T) n.2991A>T n.3199A>T c.2408A>T (p.Glu803Val) c.1433A>T (p.Glu478Val) c.2147A>T (p.Glu716Val) c.3125A>T (p.Glu1042Val) n.2943A>T n.3151A>T | |
1 | g.197434854A>C | CA344044337 | CRB1 | c.2991A>C (p.Glu997Asp) c.1872A>C (p.Glu624Asp) c.1134A>C (p.Glu378Asp) c.2655A>C (p.Glu885Asp) c.2919A>C (p.Glu973Asp) c.2129-746A>C (n.2129-746A>C) n.2992A>C n.3200A>C c.2409A>C (p.Glu803Asp) c.1434A>C (p.Glu478Asp) c.2148A>C (p.Glu716Asp) c.3126A>C (p.Glu1042Asp) n.2944A>C n.3152A>C | |
1 | g.197434854A>G | CA422672589 | CRB1 | c.2991A>G (p.Glu997=) c.1872A>G (p.Glu624=) c.1134A>G (p.Glu378=) c.2655A>G (p.Glu885=) c.2919A>G (p.Glu973=) c.2129-746A>G (n.2129-746A>G) n.2992A>G n.3200A>G c.2409A>G (p.Glu803=) c.1434A>G (p.Glu478=) c.2148A>G (p.Glu716=) c.3126A>G (p.Glu1042=) n.2944A>G n.3152A>G | |
1 | g.197434854A>T | CA344044341 | CRB1 | c.2991A>T (p.Glu997Asp) c.1872A>T (p.Glu624Asp) c.1134A>T (p.Glu378Asp) c.2655A>T (p.Glu885Asp) c.2919A>T (p.Glu973Asp) c.2129-746A>T (n.2129-746A>T) n.2992A>T n.3200A>T c.2409A>T (p.Glu803Asp) c.1434A>T (p.Glu478Asp) c.2148A>T (p.Glu716Asp) c.3126A>T (p.Glu1042Asp) n.2944A>T n.3152A>T | |
1 | g.197434855T>A | CA344044346 | CRB1 | c.2992T>A (p.Phe998Ile) c.1873T>A (p.Phe625Ile) c.1135T>A (p.Phe379Ile) c.2656T>A (p.Phe886Ile) c.2920T>A (p.Phe974Ile) c.2129-745T>A (n.2129-745T>A) n.2993T>A n.3201T>A c.2410T>A (p.Phe804Ile) c.1435T>A (p.Phe479Ile) c.2149T>A (p.Phe717Ile) c.3127T>A (p.Phe1043Ile) n.2945T>A n.3153T>A | |
1 | g.197434855T>C | CA344044356 | CRB1 | c.2992T>C (p.Phe998Leu) c.1873T>C (p.Phe625Leu) c.1135T>C (p.Phe379Leu) c.2656T>C (p.Phe886Leu) c.2920T>C (p.Phe974Leu) c.2129-745T>C (n.2129-745T>C) n.2993T>C n.3201T>C c.2410T>C (p.Phe804Leu) c.1435T>C (p.Phe479Leu) c.2149T>C (p.Phe717Leu) c.3127T>C (p.Phe1043Leu) n.2945T>C n.3153T>C | dbSNP |
1 | g.197434855T>G | CA344044353 | CRB1 | c.2992T>G (p.Phe998Val) c.1873T>G (p.Phe625Val) c.1135T>G (p.Phe379Val) c.2656T>G (p.Phe886Val) c.2920T>G (p.Phe974Val) c.2129-745T>G (n.2129-745T>G) n.2993T>G n.3201T>G c.2410T>G (p.Phe804Val) c.1435T>G (p.Phe479Val) c.2149T>G (p.Phe717Val) c.3127T>G (p.Phe1043Val) n.2945T>G n.3153T>G | dbSNP |
1 | g.197434855T= | CA1218068694 | CRB1 | c.2992T= (p.Phe998=) c.1873T= (p.Phe625=) c.1135T= (p.Phe379=) c.2656T= (p.Phe886=) c.2920T= (p.Phe974=) c.2129-745T= (n.2129-745T=) n.2993T= n.3201T= c.2410T= (p.Phe804=) c.1435T= (p.Phe479=) c.2149T= (p.Phe717=) c.3127T= (p.Phe1043=) n.2945T= n.3153T= |