ClinVar Miner

List of variants studied for retinitis pigmentosa 12 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1591
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_201253.3(CRB1):c.71-12A>T rs12042179 0.33853
NM_201253.3(CRB1):c.1410= (p.Leu470=) rs3902057 0.07472
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602 0.00655
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_201253.3(CRB1):c.2843-13C>T rs199808176 0.00109
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) rs116246250 0.00067
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283 0.00064
NM_201253.3(CRB1):c.3750-3T>C rs187937543 0.00063
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_201253.3(CRB1):c.3878+15A>T rs200217112 0.00046
NM_201253.3(CRB1):c.2398A>G (p.Ile800Val) rs74846670 0.00045
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) rs142090517 0.00045
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) rs140428156 0.00036
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_201253.3(CRB1):c.2976A>G (p.Ala992=) rs200379694 0.00035
NM_201253.3(CRB1):c.3399G>T (p.Val1133=) rs146793724 0.00031
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) rs201609001 0.00029
NM_201253.3(CRB1):c.71-14T>C rs374653244 0.00029
NM_201253.3(CRB1):c.1428C>T (p.Thr476=) rs62636282 0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614 0.00025
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263 0.00025
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn) rs139463596 0.00022
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His) rs200573274 0.00022
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_201253.3(CRB1):c.430T>G (p.Phe144Val) rs62636262 0.00021
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) rs140494140 0.00017
NM_201253.3(CRB1):c.3393T>C (p.Asn1131=) rs150559394 0.00017
NM_201253.3(CRB1):c.2538A>T (p.Gly846=) rs139040133 0.00015
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile) rs144011428 0.00014
NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg) rs145956521 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201253.3(CRB1):c.4071G>A (p.Leu1357=) rs765722225 0.00012
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315 0.00011
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) rs111761880 0.00011
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys) rs190037839 0.00011
NM_201253.3(CRB1):c.2652C>A (p.Gly884=) rs555263577 0.00010
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284 0.00010
NM_201253.3(CRB1):c.1189G>C (p.Asp397His) rs114264441 0.00009
NM_201253.3(CRB1):c.1305A>T (p.Gly435=) rs34813822 0.00009
NM_201253.3(CRB1):c.1332C>T (p.Gly444=) rs148865280 0.00009
NM_201253.3(CRB1):c.1829A>G (p.Asn610Ser) rs143655463 0.00009
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr) rs114630940 0.00009
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) rs138667698 0.00009
NM_201253.3(CRB1):c.3956T>A (p.Phe1319Tyr) rs559611648 0.00009
NM_201253.3(CRB1):c.2843-10C>T rs535242318 0.00008
NM_201253.3(CRB1):c.3471C>T (p.Ile1157=) rs533882653 0.00008
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn) rs1006177908 0.00007
NM_201253.3(CRB1):c.3372A>G (p.Gln1124=) rs376135634 0.00007
NM_201253.3(CRB1):c.825G>A (p.Gly275=) rs149685264 0.00007
NM_201253.3(CRB1):c.1014C>T (p.Ile338=) rs771549675 0.00006
NM_201253.3(CRB1):c.1172-15T>A rs375141011 0.00006
NM_201253.3(CRB1):c.1172-20C>T rs768396277 0.00006
NM_201253.3(CRB1):c.1182C>T (p.Cys394=) rs115352681 0.00006
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_201253.3(CRB1):c.156T>C (p.Asn52=) rs143046320 0.00006
NM_201253.3(CRB1):c.1746A>G (p.Leu582=) rs550119977 0.00006
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn) rs138936375 0.00006
NM_201253.3(CRB1):c.2796G>A (p.Pro932=) rs139127915 0.00006
NM_201253.3(CRB1):c.2826G>T (p.Val942=) rs781176401 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_201253.3(CRB1):c.1982G>T (p.Gly661Val) rs780399679 0.00005
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185 0.00005
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=) rs753331276 0.00005
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile) rs938864433 0.00005
NM_201253.3(CRB1):c.447C>T (p.His149=) rs576678571 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_201253.3(CRB1):c.1015G>A (p.Asp339Asn) rs1199892094 0.00004
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu) rs148551147 0.00004
NM_201253.3(CRB1):c.1089T>C (p.Tyr363=) rs376105354 0.00004
NM_201253.3(CRB1):c.1577G>A (p.Arg526Gln) rs531283439 0.00004
NM_201253.3(CRB1):c.1728G>A (p.Glu576=) rs529612010 0.00004
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286 0.00004
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) rs530046423 0.00004
NM_201253.3(CRB1):c.2235G>A (p.Thr745=) rs753107217 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2403G>A (p.Lys801=) rs568010290 0.00004
NM_201253.3(CRB1):c.2419C>T (p.Leu807=) rs371089348 0.00004
NM_201253.3(CRB1):c.2463G>A (p.Thr821=) rs375269970 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu) rs368816923 0.00004
NM_201253.3(CRB1):c.2995C>T (p.Leu999Phe) rs983449864 0.00004
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787 0.00004
NM_201253.3(CRB1):c.3603A>T (p.Thr1201=) rs778669324 0.00004
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) rs776191501 0.00004
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln) rs764581378 0.00004
NM_201253.3(CRB1):c.582C>A (p.Pro194=) rs201148750 0.00004
NM_201253.3(CRB1):c.678C>T (p.Asp226=) rs753324293 0.00004
NM_201253.3(CRB1):c.744C>T (p.Cys248=) rs367580749 0.00004
NM_201253.3(CRB1):c.1480C>T (p.Leu494=) rs530821170 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter) rs1409490389 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys) rs746307301 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro) rs751018219 0.00003
NM_201253.3(CRB1):c.2874C>T (p.Ser958=) rs372778560 0.00003
NM_201253.3(CRB1):c.2925T>C (p.Asn975=) rs1413108078 0.00003
NM_201253.3(CRB1):c.2979A>G (p.Glu993=) rs557653092 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_201253.3(CRB1):c.3318T>C (p.Tyr1106=) rs186077696 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 0.00003
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn) rs147924782 0.00003
NM_201253.3(CRB1):c.3702T>C (p.Asn1234=) rs747978870 0.00003
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp) rs754054234 0.00003
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) rs763324776 0.00003
NM_201253.3(CRB1):c.580C>T (p.Pro194Ser) rs772447283 0.00003
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) rs778627080 0.00002
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu) rs763122264 0.00002
NM_201253.3(CRB1):c.1171+6G>A rs770160426 0.00002
NM_201253.3(CRB1):c.1191C>T (p.Asp397=) rs758897056 0.00002
NM_201253.3(CRB1):c.1299T>C (p.Tyr433=) rs1032057202 0.00002
NM_201253.3(CRB1):c.1350T>C (p.Cys450=) rs1199282651 0.00002
NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser) rs62636265 0.00002
NM_201253.3(CRB1):c.1452C>T (p.Thr484=) rs372844443 0.00002
NM_201253.3(CRB1):c.1465G>A (p.Glu489Lys) rs1389085632 0.00002
NM_201253.3(CRB1):c.1520T>C (p.Val507Ala) rs917528638 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) rs267598278 0.00002
NM_201253.3(CRB1):c.1974C>T (p.Ile658=) rs756559532 0.00002
NM_201253.3(CRB1):c.2010T>C (p.Cys670=) rs201949837 0.00002
NM_201253.3(CRB1):c.2051G>A (p.Arg684Lys) rs371557082 0.00002
NM_201253.3(CRB1):c.208A>G (p.Met70Val) rs771462053 0.00002
NM_201253.3(CRB1):c.2118C>T (p.Asn706=) rs775275370 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_201253.3(CRB1):c.2274C>G (p.Ser758Arg) rs1474289008 0.00002
NM_201253.3(CRB1):c.234C>T (p.Pro78=) rs1216212132 0.00002
NM_201253.3(CRB1):c.2637C>G (p.Val879=) rs150464955 0.00002
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys) rs776426313 0.00002
NM_201253.3(CRB1):c.2825T>C (p.Val942Ala) rs531305918 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_201253.3(CRB1):c.2901G>T (p.Gly967=) rs773815247 0.00002
NM_201253.3(CRB1):c.3276C>A (p.Gly1092=) rs550408313 0.00002
NM_201253.3(CRB1):c.3284G>A (p.Gly1095Glu) rs751213257 0.00002
NM_201253.3(CRB1):c.3381A>G (p.Lys1127=) rs1327880181 0.00002
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe) rs768713412 0.00002
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_201253.3(CRB1):c.3850A>G (p.Met1284Val) rs766592082 0.00002
NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr) rs754575460 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201253.3(CRB1):c.4002G>A (p.Val1334=) rs752417635 0.00002
NM_201253.3(CRB1):c.4005+10C>T rs531187198 0.00002
NM_201253.3(CRB1):c.404T>A (p.Ile135Asn) rs1316048135 0.00002
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp) rs760100325 0.00002
NM_201253.3(CRB1):c.4125T>C (p.Thr1375=) rs1459964782 0.00002
NM_201253.3(CRB1):c.506G>A (p.Gly169Asp) rs150314336 0.00002
NM_201253.3(CRB1):c.54G>A (p.Leu18=) rs769695428 0.00002
NM_201253.3(CRB1):c.591C>T (p.Asn197=) rs770973303 0.00002
NM_201253.3(CRB1):c.629G>T (p.Cys210Phe) rs972802394 0.00002
NM_201253.3(CRB1):c.768G>T (p.Gly256=) rs776142561 0.00002
NM_201253.3(CRB1):c.867G>A (p.Thr289=) rs147244321 0.00002
NM_201253.3(CRB1):c.939T>C (p.Asn313=) rs1410405020 0.00002
NM_201253.3(CRB1):c.1023T>C (p.Asn341=) rs1064797127 0.00001
NM_201253.3(CRB1):c.1026A>C (p.Glu342Asp) rs144798709 0.00001
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu) rs765500601 0.00001
NM_201253.3(CRB1):c.1086A>T (p.Gln362His) rs1022182632 0.00001
NM_201253.3(CRB1):c.1116T>C (p.Ser372=) rs764990895 0.00001
NM_201253.3(CRB1):c.1134C>T (p.Ala378=) rs1422765947 0.00001
NM_201253.3(CRB1):c.1143T>C (p.Tyr381=) rs777205072 0.00001
NM_201253.3(CRB1):c.1149dup (p.Ile384fs) rs1660517678 0.00001
NM_201253.3(CRB1):c.1152C>G (p.Ile384Met) rs781656059 0.00001
NM_201253.3(CRB1):c.1161T>G (p.Pro387=) rs746407080 0.00001
NM_201253.3(CRB1):c.1172-12A>G rs146175509 0.00001
NM_201253.3(CRB1):c.1172-3C>G rs937310739 0.00001
NM_201253.3(CRB1):c.1206T>C (p.Ser402=) rs373229699 0.00001
NM_201253.3(CRB1):c.1227T>G (p.Gly409=) rs903050285 0.00001
NM_201253.3(CRB1):c.1230T>C (p.Gly410=) rs1334956674 0.00001
NM_201253.3(CRB1):c.1236T>C (p.Cys412=) rs1358707398 0.00001
NM_201253.3(CRB1):c.123C>T (p.Asn41=) rs766622294 0.00001
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.132A>G (p.Thr44=) rs754232939 0.00001
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr) rs746597173 0.00001
NM_201253.3(CRB1):c.1389C>A (p.Gly463=) rs985484481 0.00001
NM_201253.3(CRB1):c.1446C>T (p.Ile482=) rs150894028 0.00001
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser) rs777377174 0.00001
NM_201253.3(CRB1):c.1479C>T (p.Phe493=) rs770919155 0.00001
NM_201253.3(CRB1):c.14A>G (p.Asn5Ser) rs139427846 0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.1590T>C (p.Asp530=) rs1386404996 0.00001
NM_201253.3(CRB1):c.15C>T (p.Asn5=) rs1184713975 0.00001
NM_201253.3(CRB1):c.1612C>T (p.Leu538=) rs764090396 0.00001
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val) rs745464770 0.00001
NM_201253.3(CRB1):c.1656A>T (p.Ser552=) rs774901506 0.00001
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu) rs772386716 0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) rs769859765 0.00001
NM_201253.3(CRB1):c.1749C>T (p.Ile583=) rs1178650450 0.00001
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) rs750442312 0.00001
NM_201253.3(CRB1):c.1803T>C (p.Ser601=) rs757974429 0.00001
NM_201253.3(CRB1):c.1818T>C (p.Cys606=) rs371114178 0.00001
NM_201253.3(CRB1):c.1827G>A (p.Gln609=) rs1231765331 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.1833C>T (p.Ser611=) rs1474792750 0.00001
NM_201253.3(CRB1):c.1837T>C (p.Leu613=) rs1664331544 0.00001
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) rs768905244 0.00001
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile) rs1450290360 0.00001
NM_201253.3(CRB1):c.1883T>C (p.Leu628Pro) rs749411741 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser) rs1457623741 0.00001
NM_201253.3(CRB1):c.1914G>A (p.Ser638=) rs780682072 0.00001
NM_201253.3(CRB1):c.1933G>T (p.Asp645Tyr) rs1218091828 0.00001
NM_201253.3(CRB1):c.1947T>C (p.Asp649=) rs370486884 0.00001
NM_201253.3(CRB1):c.1976C>T (p.Ser659Leu) rs986645649 0.00001
NM_201253.3(CRB1):c.1977G>A (p.Ser659=) rs1457627160 0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710 0.00001
NM_201253.3(CRB1):c.2019G>A (p.Lys673=) rs762613347 0.00001
NM_201253.3(CRB1):c.201T>C (p.Cys67=) rs778707167 0.00001
NM_201253.3(CRB1):c.2022T>C (p.Asp674=) rs763534239 0.00001
NM_201253.3(CRB1):c.2040T>C (p.Pro680=) rs756400739 0.00001
NM_201253.3(CRB1):c.2052A>G (p.Arg684=) rs1220603723 0.00001
NM_201253.3(CRB1):c.2055A>G (p.Gly685=) rs1267861114 0.00001
NM_201253.3(CRB1):c.2058C>T (p.Arg686=) rs1297707527 0.00001
NM_201253.3(CRB1):c.207C>T (p.Asn69=) rs1302750453 0.00001
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) rs1180527322 0.00001
NM_201253.3(CRB1):c.2106T>C (p.Tyr702=) rs1381483469 0.00001
NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys) rs62645755 0.00001
NM_201253.3(CRB1):c.2129-15A>G rs997262993 0.00001
NM_201253.3(CRB1):c.2129-8C>T rs768488282 0.00001
NM_201253.3(CRB1):c.2136G>A (p.Val712=) rs1308513402 0.00001
NM_201253.3(CRB1):c.2159A>T (p.Asp720Val) rs766989894 0.00001
NM_201253.3(CRB1):c.2166T>C (p.Thr722=) rs1401615070 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2172T>C (p.Tyr724=) rs752824817 0.00001
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr) rs757381371 0.00001
NM_201253.3(CRB1):c.2244A>G (p.Pro748=) rs1303632948 0.00001
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=) rs1192399919 0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.2303A>G (p.Glu768Gly) rs771264436 0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784 0.00001
NM_201253.3(CRB1):c.2352A>T (p.Val784=) rs139001684 0.00001
NM_201253.3(CRB1):c.2367T>C (p.Asn789=) rs998893595 0.00001
NM_201253.3(CRB1):c.2370T>C (p.Asp790=) rs1664663329 0.00001
NM_201253.3(CRB1):c.2377G>A (p.Val793Ile) rs528781963 0.00001
NM_201253.3(CRB1):c.2391T>C (p.Ser797=) rs749788926 0.00001
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser) rs767723282 0.00001
NM_201253.3(CRB1):c.2406A>T (p.Pro802=) rs141103073 0.00001
NM_201253.3(CRB1):c.2472C>T (p.Ile824=) rs757171810 0.00001
NM_201253.3(CRB1):c.2523T>C (p.Thr841=) rs1191597946 0.00001
NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg) rs539189291 0.00001
NM_201253.3(CRB1):c.2544C>T (p.Phe848=) rs760840456 0.00001
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) rs776591659 0.00001
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val) rs757137398 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 0.00001
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile) rs557930078 0.00001
NM_201253.3(CRB1):c.2580A>G (p.Gln860=) rs562386611 0.00001
NM_201253.3(CRB1):c.2610C>T (p.Asn870=) rs1032233875 0.00001
NM_201253.3(CRB1):c.261C>T (p.Asn87=) rs759889286 0.00001
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala) rs772386967 0.00001
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser) rs145525029 0.00001
NM_201253.3(CRB1):c.2676+10A>G rs1184687882 0.00001
NM_201253.3(CRB1):c.2691C>T (p.His897=) rs1664766595 0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312 0.00001
NM_201253.3(CRB1):c.276G>C (p.Arg92Ser) rs751678963 0.00001
NM_201253.3(CRB1):c.2778G>A (p.Gln926=) rs775185174 0.00001
NM_201253.3(CRB1):c.2821C>A (p.Pro941Thr) rs374914600 0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.2843-8C>A rs745832578 0.00001
NM_201253.3(CRB1):c.285G>C (p.Leu95=) rs753898127 0.00001
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu) rs905306614 0.00001
NM_201253.3(CRB1):c.2892A>G (p.Arg964=) rs146781806 0.00001
NM_201253.3(CRB1):c.2931A>G (p.Thr977=) rs764177876 0.00001
NM_201253.3(CRB1):c.2968T>C (p.Leu990=) rs750298942 0.00001
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) rs62635655 0.00001
NM_201253.3(CRB1):c.3000T>C (p.Asn1000=) rs1477246106 0.00001
NM_201253.3(CRB1):c.3001A>G (p.Ile1001Val) rs1179276987 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=) rs374426440 0.00001
NM_201253.3(CRB1):c.309T>C (p.Ser103=) rs777099127 0.00001
NM_201253.3(CRB1):c.3105C>T (p.His1035=) rs541965270 0.00001
NM_201253.3(CRB1):c.3114C>T (p.Thr1038=) rs1240273159 0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) rs62635656 0.00001
NM_201253.3(CRB1):c.3132A>G (p.Pro1044=) rs761284263 0.00001
NM_201253.3(CRB1):c.3165G>A (p.Val1055=) rs1187770298 0.00001
NM_201253.3(CRB1):c.3168C>T (p.Asp1056=) rs1182400732 0.00001
NM_201253.3(CRB1):c.3189C>A (p.Thr1063=) rs370428071 0.00001
NM_201253.3(CRB1):c.3220T>C (p.Leu1074=) rs777533163 0.00001
NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser) rs751303205 0.00001
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn) rs769059111 0.00001
NM_201253.3(CRB1):c.3285G>C (p.Gly1095=) rs1030214290 0.00001
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=) rs374786358 0.00001
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) rs115649214 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.3375T>A (p.Phe1125Leu) rs1226422852 0.00001
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe) rs763011436 0.00001
NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter) rs1342970033 0.00001
NM_201253.3(CRB1):c.3440C>T (p.Pro1147Leu) rs1034421454 0.00001
NM_201253.3(CRB1):c.3486T>C (p.His1162=) rs553324848 0.00001
NM_201253.3(CRB1):c.348G>A (p.Lys116=) rs763032541 0.00001
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg) rs767368951 0.00001
NM_201253.3(CRB1):c.3564T>C (p.His1188=) rs376271122 0.00001
NM_201253.3(CRB1):c.3609G>A (p.Glu1203=) rs1177792712 0.00001
NM_201253.3(CRB1):c.3620C>A (p.Thr1207Asn) rs1334175594 0.00001
NM_201253.3(CRB1):c.3624T>C (p.Gly1208=) rs760520811 0.00001
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu) rs759022743 0.00001
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser) rs1031415706 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 0.00001
NM_201253.3(CRB1):c.3739A>G (p.Lys1247Glu) rs1222907981 0.00001
NM_201253.3(CRB1):c.3750-10A>C rs766568931 0.00001
NM_201253.3(CRB1):c.3765C>T (p.Pro1255=) rs1175098520 0.00001
NM_201253.3(CRB1):c.3810T>C (p.Asn1270=) rs748813717 0.00001
NM_201253.3(CRB1):c.3828G>A (p.Glu1276=) rs1390632601 0.00001
NM_201253.3(CRB1):c.3834G>A (p.Gln1278=) rs1041984071 0.00001
NM_201253.3(CRB1):c.3876A>G (p.Glu1292=) rs114973695 0.00001
NM_201253.3(CRB1):c.3878+10A>G rs886043311 0.00001
NM_201253.3(CRB1):c.3879-4G>A rs373719645 0.00001
NM_201253.3(CRB1):c.3915G>A (p.Pro1305=) rs541488801 0.00001
NM_201253.3(CRB1):c.3924T>C (p.Asn1308=) rs771757120 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.3939G>A (p.Gln1313=) rs375597838 0.00001
NM_201253.3(CRB1):c.393T>C (p.Tyr131=) rs1324766724 0.00001
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His) rs62636281 0.00001
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter) rs1246546027 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met) rs754862028 0.00001
NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala) rs778684885 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.4026C>T (p.Ser1342=) rs142057392 0.00001
NM_201253.3(CRB1):c.4027G>A (p.Asp1343Asn) rs771181041 0.00001
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941 0.00001
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr) rs774187022 0.00001
NM_201253.3(CRB1):c.4059C>T (p.Val1353=) rs541669826 0.00001
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=) rs753097155 0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) rs752559648 0.00001
NM_201253.3(CRB1):c.4104C>T (p.Val1368=) rs781437952 0.00001
NM_201253.3(CRB1):c.4113C>T (p.Asn1371=) rs1667262615 0.00001
NM_201253.3(CRB1):c.4122A>T (p.Ala1374=) rs1667263346 0.00001
NM_201253.3(CRB1):c.4G>A (p.Ala2Thr) rs1203732030 0.00001
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) rs1658691162 0.00001
NM_201253.3(CRB1):c.559G>A (p.Val187Met) rs774621951 0.00001
NM_201253.3(CRB1):c.601T>C (p.Cys201Arg) rs762835866 0.00001
NM_201253.3(CRB1):c.603C>T (p.Cys201=) rs763908215 0.00001
NM_201253.3(CRB1):c.627T>C (p.Thr209=) rs755611610 0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) rs1658699227 0.00001
NM_201253.3(CRB1):c.652+17C>G rs779288558 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_201253.3(CRB1):c.653-6T>A rs750059176 0.00001
NM_201253.3(CRB1):c.65T>A (p.Ile22Lys) rs762741389 0.00001
NM_201253.3(CRB1):c.70+7C>T rs1358042113 0.00001
NM_201253.3(CRB1):c.70+8T>C rs763662967 0.00001
NM_201253.3(CRB1):c.707G>A (p.Gly236Asp) rs778322895 0.00001
NM_201253.3(CRB1):c.71-12del rs369741574 0.00001
NM_201253.3(CRB1):c.71-9T>A rs571591819 0.00001
NM_201253.3(CRB1):c.711A>G (p.Ala237=) rs1192169952 0.00001
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn) rs1452822430 0.00001
NM_201253.3(CRB1):c.716G>C (p.Cys239Ser) rs771079655 0.00001
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn) rs1461964160 0.00001
NM_201253.3(CRB1):c.75C>T (p.Ser25=) rs768441650 0.00001
NM_201253.3(CRB1):c.763C>T (p.Leu255=) rs1659649148 0.00001
NM_201253.3(CRB1):c.826C>T (p.Leu276=) rs1405215161 0.00001
NM_201253.3(CRB1):c.849-10T>C rs747523008 0.00001
NM_201253.3(CRB1):c.849-2A>G rs988534225 0.00001
NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter) rs1046799192 0.00001
NM_201253.3(CRB1):c.864C>T (p.Cys288=) rs1385265027 0.00001
NM_201253.3(CRB1):c.885G>C (p.Gly295=) rs542716912 0.00001
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg) rs1412048468 0.00001
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser) rs911156007 0.00001
NM_201253.3(CRB1):c.957T>C (p.Ser319=) rs765228022 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NM_201253.3(CRB1):c.996A>G (p.Thr332=) rs1488355227 0.00001
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) rs778232235 0.00001
NC_000001.10:g.(?_196918585)_(197742062_?)del
NC_000001.10:g.(?_197237324)_(197326153_?)del
NC_000001.10:g.(?_197237324)_(197447595_?)del
NC_000001.10:g.(?_197237543)_(197237632_?)del
NC_000001.10:g.(?_197237543)_(197237632_?)dup
NC_000001.10:g.(?_197237543)_(197447009_?)del
NC_000001.10:g.(?_197297532)_(197326163_?)dup
NC_000001.10:g.(?_197297532)_(197411442_?)del
NC_000001.10:g.(?_197297532)_(197447009_?)dup
NC_000001.10:g.(?_197297542)_(197298143_?)del
NC_000001.10:g.(?_197297542)_(197326153_?)del
NC_000001.10:g.(?_197313391)_(197411442_?)dup
NC_000001.10:g.(?_197325941)_(197326163_?)del
NC_000001.10:g.(?_197325951)_(197326153_?)del
NC_000001.10:g.(?_197390110)_(197391106_?)del
NC_000001.10:g.(?_197390110)_(197398764_?)del
NC_000001.10:g.(?_197390110)_(197398764_?)dup
NC_000001.10:g.(?_197398094)_(197398754_?)del
NC_000001.10:g.(?_197404386)_(197410804_?)del
NC_000001.10:g.(?_197407491)_(197411316_?)del
NC_000001.10:g.(?_197407657)_(197411442_?)del
NC_000001.10:g.(?_197407677)_(197411422_?)del
NC_000001.10:g.(?_197407736)_(197423021_?)del
NC_000001.10:g.(?_197446784)_(197447595_?)del
NC_000001.10:g.(?_197446965)_(197449864_?)del
NC_000001.11:g.(?_197084314)_(197478465_?)del
NC_000001.11:g.(?_197268194)_(197268492_?)del
NC_000001.11:g.(?_197268413)_(197357013_?)del
NC_000001.11:g.(?_197438537)_(197442544_?)del
NM_201253.3(CRB1):c.1000G>A (p.Ala334Thr) rs2125354252
NM_201253.3(CRB1):c.1002C>T (p.Ala334=)
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)
NM_201253.3(CRB1):c.1005G>T (p.Gln335His)
NM_201253.3(CRB1):c.1010A>G (p.Glu337Gly) rs2125354280
NM_201253.3(CRB1):c.1011G>A (p.Glu337=) rs1013396657
NM_201253.3(CRB1):c.1017C>T (p.Asp339=)
NM_201253.3(CRB1):c.1020C>T (p.Leu340=)
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.102C>T (p.Cys34=) rs2125303585
NM_201253.3(CRB1):c.1030A>C (p.Asn344His)
NM_201253.3(CRB1):c.1032_1033dup (p.Ser345fs)
NM_201253.3(CRB1):c.1038C>T (p.Asn346=) rs1320196113
NM_201253.3(CRB1):c.1042T>C (p.Cys348Arg) rs2125354412
NM_201253.3(CRB1):c.1048T>C (p.Ser350Pro)
NM_201253.3(CRB1):c.1055_1063del (p.Gly352_Cys354del)
NM_201253.3(CRB1):c.1057G>T (p.Glu353Ter) rs2125354456
NM_201253.3(CRB1):c.1061G>A (p.Cys354Tyr)
NM_201253.3(CRB1):c.1071G>A (p.Leu357=)
NM_201253.3(CRB1):c.1074C>A (p.Ser358=)
NM_201253.3(CRB1):c.1078_1081del (p.Glu360fs) rs2125354507
NM_201253.3(CRB1):c.107C>A (p.Ser36Ter) rs2125303600
NM_201253.3(CRB1):c.1080G>A (p.Glu360=)
NM_201253.3(CRB1):c.108A>G (p.Ser36=)
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys) rs116347915
NM_201253.3(CRB1):c.1094G>A (p.Arg365His) rs777528044
NM_201253.3(CRB1):c.1094_1095delinsCT (p.Arg365Pro) rs1660512789
NM_201253.3(CRB1):c.1095C>T (p.Arg365=)
NM_201253.3(CRB1):c.1100C>T (p.Thr367Ile) rs764225776
NM_201253.3(CRB1):c.1107G>A (p.Leu369=) rs774597915
NM_201253.3(CRB1):c.1109CTT[2] (p.Ser372del)
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro) rs1660514556
NM_201253.3(CRB1):c.1122C>T (p.Ser374=) rs1571897069
NM_201253.3(CRB1):c.1123T>C (p.Tyr375His)
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter) rs1660515780
NM_201253.3(CRB1):c.1128T>C (p.His376=) rs2125354691
NM_201253.3(CRB1):c.112del (p.Ser38fs) rs62645750
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) rs1660516364
NM_201253.3(CRB1):c.1137A>G (p.Ser379=)
NM_201253.3(CRB1):c.1145T>C (p.Val382Ala)
NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.114T>C (p.Ser38=) rs2125303623
NM_201253.3(CRB1):c.1161T>C (p.Pro387=) rs746407080
NM_201253.3(CRB1):c.1164A>T (p.Gly388=)
NM_201253.3(CRB1):c.1171+10A>G rs2125354843
NM_201253.3(CRB1):c.1171+11G>C rs2125354847
NM_201253.3(CRB1):c.1171+15A>G
NM_201253.3(CRB1):c.1171+1G>A
NM_201253.3(CRB1):c.1171+7C>A
NM_201253.3(CRB1):c.1171+7C>T
NM_201253.3(CRB1):c.1171+8C>A
NM_201253.3(CRB1):c.1171+9A>G
NM_201253.3(CRB1):c.1172-10T>G rs2125468756
NM_201253.3(CRB1):c.1172-12del
NM_201253.3(CRB1):c.1172-13dup
NM_201253.3(CRB1):c.1172-15T>C rs375141011
NM_201253.3(CRB1):c.1172-18T>G
NM_201253.3(CRB1):c.1172-1G>T rs2125468776
NM_201253.3(CRB1):c.1172-2A>G rs2125468772
NM_201253.3(CRB1):c.1172-7T>C
NM_201253.3(CRB1):c.1172-8T>C
NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.1183G>A (p.Glu395Lys)
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1185A>G (p.Glu395=) rs2125468817
NM_201253.3(CRB1):c.1186G>A (p.Glu396Lys)
NM_201253.3(CRB1):c.1194C>G (p.Val398=)
NM_201253.3(CRB1):c.1194C>T (p.Val398=) rs1211619415
NM_201253.3(CRB1):c.1196A>G (p.Asn399Ser)
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter) rs62645746
NM_201253.3(CRB1):c.1218C>T (p.Cys406=) rs2125468930
NM_201253.3(CRB1):c.1224T>C (p.Asn408=) rs1352300215
NM_201253.3(CRB1):c.1233T>A (p.Thr411=) rs2125468968
NM_201253.3(CRB1):c.1236T>A (p.Cys412Ter)
NM_201253.3(CRB1):c.1242C>T (p.Asn414=)
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)
NM_201253.3(CRB1):c.1253A>C (p.Asn418Thr) rs539152735
NM_201253.3(CRB1):c.1253A>G (p.Asn418Ser)
NM_201253.3(CRB1):c.1258A>G (p.Thr420Ala)
NM_201253.3(CRB1):c.1263C>T (p.Cys421=)
NM_201253.3(CRB1):c.1266T>C (p.His422=)
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
NM_201253.3(CRB1):c.1278T>G (p.Asp426Glu)
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) rs751691851
NM_201253.3(CRB1):c.129T>A (p.Ser43=) rs2125303659
NM_201253.3(CRB1):c.12G>A (p.Lys4=) rs1452970703
NM_201253.3(CRB1):c.1305A>G (p.Gly435=) rs34813822
NM_201253.3(CRB1):c.1306A>C (p.Arg436=)
NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)
NM_201253.3(CRB1):c.1317T>C (p.Ser439=)
NM_201253.3(CRB1):c.1326C>T (p.Leu442=)
NM_201253.3(CRB1):c.1331G>A (p.Gly444Asp)
NM_201253.3(CRB1):c.1334G>A (p.Cys445Tyr)
NM_201253.3(CRB1):c.1334_1740del (p.Cys445fs) rs1664289410
NM_201253.3(CRB1):c.1337C>A (p.Thr446Asn) rs1215864611
NM_201253.3(CRB1):c.1339dup (p.His447fs) rs2125469313
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser) rs1664290387
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer) rs2125303672
NM_201253.3(CRB1):c.1356T>C (p.Asn452=)
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1362A>G (p.Gly454=) rs2125469375
NM_201253.3(CRB1):c.137A>C (p.Lys46Thr)
NM_201253.3(CRB1):c.1380C>T (p.Phe460=)
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) rs1664292210
NM_201253.3(CRB1):c.1389C>G (p.Gly463=)
NM_201253.3(CRB1):c.138del (p.Asp47fs)
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
NM_201253.3(CRB1):c.1408C>T (p.Leu470=)
NM_201253.3(CRB1):c.140A>G (p.Asp47Gly) rs1240979285
NM_201253.3(CRB1):c.1416A>G (p.Pro472=)
NM_201253.3(CRB1):c.1425C>T (p.Tyr475=) rs2125469515
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1428C>G (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.142T>A (p.Phe48Ile) rs765448599
NM_201253.3(CRB1):c.1430G>T (p.Gly477Val) rs1277758473
NM_201253.3(CRB1):c.1431G>A (p.Gly477=) rs761872993
NM_201253.3(CRB1):c.1431G>T (p.Gly477=) rs761872993
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) rs963201816
NM_201253.3(CRB1):c.1447G>A (p.Ala483Thr)
NM_201253.3(CRB1):c.1447G>C (p.Ala483Pro)
NM_201253.3(CRB1):c.144T>C (p.Phe48=) rs2125303703
NM_201253.3(CRB1):c.1468G>C (p.Gly490Arg) rs1450685360
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val) rs1664299898
NM_201253.3(CRB1):c.1474G>A (p.Gly492Ser)
NM_201253.3(CRB1):c.1476C>T (p.Gly492=)
NM_201253.3(CRB1):c.1512G>A (p.Lys504=) rs1208469570
NM_201253.3(CRB1):c.1521T>G (p.Val507=) rs1664303513
NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg) rs1664303657
NM_201253.3(CRB1):c.1534C>G (p.Leu512Val) rs1664304309
NM_201253.3(CRB1):c.1538G>T (p.Arg513Met) rs1571523673
NM_201253.3(CRB1):c.1539G>A (p.Arg513=) rs1571523693
NM_201253.3(CRB1):c.153C>T (p.Asp51=)
NM_201253.3(CRB1):c.1544A>T (p.Gln515Leu) rs2125469961
NM_201253.3(CRB1):c.1557A>G (p.Pro519=)
NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro)
NM_201253.3(CRB1):c.1572T>C (p.Leu524=) rs1571523807
NM_201253.3(CRB1):c.1580G>A (p.Ser527Asn)
NM_201253.3(CRB1):c.1585A>C (p.Arg529=) rs2125470067
NM_201253.3(CRB1):c.1593G>A (p.Val531=)
NM_201253.3(CRB1):c.1593G>T (p.Val531=)
NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu) rs2125470125
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) rs878853364
NM_201253.3(CRB1):c.1613T>A (p.Leu538Gln) rs1664310357
NM_201253.3(CRB1):c.1617T>C (p.Ser539=)
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)
NM_201253.3(CRB1):c.1623C>T (p.Tyr541=)
NM_201253.3(CRB1):c.1625T>C (p.Ile542Thr) rs2125470239
NM_201253.3(CRB1):c.162T>C (p.Cys54=) rs1426861310
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1637T>C (p.Ile546Thr) rs1427090221
NM_201253.3(CRB1):c.1649del (p.Asn550fs)
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1655del (p.Gln551_Ser552insTer)
NM_201253.3(CRB1):c.1659G>A (p.Lys553=) rs748644955
NM_201253.3(CRB1):c.1660del (p.Val554fs) rs1664313783
NM_201253.3(CRB1):c.1661T>G (p.Val554Gly)
NM_201253.3(CRB1):c.1664T>C (p.Leu555Pro)
NM_201253.3(CRB1):c.1665T>C (p.Leu555=)
NM_201253.3(CRB1):c.1668G>A (p.Leu556=)
NM_201253.3(CRB1):c.1668G>C (p.Leu556=)
NM_201253.3(CRB1):c.1671C>T (p.Phe557=) rs2125470440
NM_201253.3(CRB1):c.1677C>T (p.Ser559=)
NM_201253.3(CRB1):c.1685C>T (p.Thr562Ile)
NM_201253.3(CRB1):c.1686C>A (p.Thr562=)
NM_201253.3(CRB1):c.1687A>G (p.Ser563Gly) rs1193275021
NM_201253.3(CRB1):c.1689C>T (p.Ser563=)
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn) rs757279881
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)
NM_201253.3(CRB1):c.1692T>C (p.Asp564=)
NM_201253.3(CRB1):c.1697del (p.Glu566fs) rs1664317534
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg) rs886043472
NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter) rs2125470583
NM_201253.3(CRB1):c.1704T>A (p.His568Gln)
NM_201253.3(CRB1):c.1707C>T (p.Phe569=) rs201885772
NM_201253.3(CRB1):c.1708G>A (p.Val570Met) rs754482666
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.1713G>A (p.Glu571=) rs375514026
NM_201253.3(CRB1):c.1725A>G (p.Ala575=) rs1240962420
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.1734G>A (p.Val578=)
NM_201253.3(CRB1):c.1737C>A (p.Thr579=) rs775441906
NM_201253.3(CRB1):c.1737C>T (p.Thr579=) rs775441906
NM_201253.3(CRB1):c.1738C>T (p.Leu580Phe) rs761775378
NM_201253.3(CRB1):c.1740T>C (p.Leu580=) rs2125470719
NM_201253.3(CRB1):c.1743C>A (p.Thr581=)
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.1749C>A (p.Ile583=)
NM_201253.3(CRB1):c.174C>T (p.Asp58=)
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1767G>A (p.Glu589=) rs142458114
NM_201253.3(CRB1):c.176C>T (p.Thr59Ile) rs1284729199
NM_201253.3(CRB1):c.1770A>G (p.Lys590=) rs1350306887
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) rs1664325377
NM_201253.3(CRB1):c.1775T>C (p.Ile592Thr)
NM_201253.3(CRB1):c.1778C>G (p.Ala593Gly) rs1447630642
NM_201253.3(CRB1):c.1779G>A (p.Ala593=)
NM_201253.3(CRB1):c.1779G>T (p.Ala593=) rs778428918
NM_201253.3(CRB1):c.1782del (p.Ala595fs)
NM_201253.3(CRB1):c.1783G>C (p.Ala595Pro) rs752212470
NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser) rs752212470
NM_201253.3(CRB1):c.1786C>A (p.Pro596Thr)
NM_201253.3(CRB1):c.1791T>C (p.Thr597=) rs2125470969
NM_201253.3(CRB1):c.1797T>C (p.Leu599=) rs2125470983
NM_201253.3(CRB1):c.180C>G (p.Ala60=)
NM_201253.3(CRB1):c.1810T>G (p.Ser604Ala) rs1664329175
NM_201253.3(CRB1):c.1812A>G (p.Ser604=) rs2125471031
NM_201253.3(CRB1):c.1813del (p.Ile605fs)
NM_201253.3(CRB1):c.1824T>C (p.Phe608=) rs2125471055
NM_201253.3(CRB1):c.1831del (p.Ser611fs) rs2125471098
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.183T>C (p.Asn61=) rs1338529935
NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.1852G>A (p.Val618Met) rs1169856523
NM_201253.3(CRB1):c.1854G>A (p.Val618=)
NM_201253.3(CRB1):c.1856del (p.Gly619fs) rs2125471177
NM_201253.3(CRB1):c.1863C>T (p.Thr621=) rs1160778866
NM_201253.3(CRB1):c.1873G>A (p.Val625Ile)
NM_201253.3(CRB1):c.1875T>G (p.Val625=) rs917245598
NM_201253.3(CRB1):c.1878T>C (p.Ala626=) rs1413323140
NM_201253.3(CRB1):c.1879C>G (p.Leu627Val)
NM_201253.3(CRB1):c.1879C>T (p.Leu627=)
NM_201253.3(CRB1):c.1881G>T (p.Leu627=)
NM_201253.3(CRB1):c.1884T>C (p.Leu628=)
NM_201253.3(CRB1):c.1896T>C (p.Asn632=) rs2125471353
NM_201253.3(CRB1):c.1896_1908del (p.Met633fs) rs2125471347
NM_201253.3(CRB1):c.18del (p.Asn7fs) rs2125193922
NM_201253.3(CRB1):c.1902A>G (p.Pro634=)
NM_201253.3(CRB1):c.1903T>A (p.Ser635Thr)
NM_201253.3(CRB1):c.1903T>C (p.Ser635Pro)
NM_201253.3(CRB1):c.1908A>G (p.Thr636=)
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.1914G>T (p.Ser638=) rs780682072
NM_201253.3(CRB1):c.1920A>G (p.Val640=) rs2125471484
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala) rs2125471502
NM_201253.3(CRB1):c.1922G>T (p.Gly641Val)
NM_201253.3(CRB1):c.1929C>G (p.Leu643=) rs1235841860
NM_201253.3(CRB1):c.1929C>T (p.Leu643=)
NM_201253.3(CRB1):c.1932A>G (p.Gln644=)
NM_201253.3(CRB1):c.1936A>C (p.Ile646Leu) rs757884719
NM_201253.3(CRB1):c.1944T>C (p.Ile648=) rs978090242
NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter) rs1664341626
NM_201253.3(CRB1):c.194_195del (p.Lys65fs)
NM_201253.3(CRB1):c.1958T>G (p.Ile653Ser) rs1336674793
NM_201253.3(CRB1):c.1962C>A (p.Thr654=)
NM_201253.3(CRB1):c.1971C>T (p.Asn657=)
NM_201253.3(CRB1):c.1974_1990del (p.Ser659fs) rs2125471663
NM_201253.3(CRB1):c.1977G>T (p.Ser659=)
NM_201253.3(CRB1):c.1989A>G (p.Ser663=) rs557541175
NM_201253.3(CRB1):c.198C>T (p.Asp66=)
NM_201253.3(CRB1):c.1996G>A (p.Val666Ile)
NM_201253.3(CRB1):c.1997T>A (p.Val666Asp) rs189395222
NM_201253.3(CRB1):c.1998C>A (p.Val666=) rs2125471766
NM_201253.3(CRB1):c.1998C>G (p.Val666=)
NM_201253.3(CRB1):c.1998C>T (p.Val666=)
NM_201253.3(CRB1):c.2001G>A (p.Lys667=)
NM_201253.3(CRB1):c.2003C>T (p.Ala668Val)
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser) rs749112809
NM_201253.3(CRB1):c.2036A>C (p.Gln679Pro)
NM_201253.3(CRB1):c.2037A>G (p.Gln679=)
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg) rs779069205
NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val) rs748175297
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2057G>A (p.Arg686His) rs1281817527
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser) rs1664351600
NM_201253.3(CRB1):c.2068T>C (p.Leu690=)
NM_201253.3(CRB1):c.2070G>A (p.Leu690=)
NM_201253.3(CRB1):c.2074C>T (p.Leu692=) rs2125472030
NM_201253.3(CRB1):c.2082C>A (p.Tyr694Ter) rs2125472041
NM_201253.3(CRB1):c.2083C>T (p.Gln695Ter)
NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg)
NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)
NM_201253.3(CRB1):c.2097C>T (p.His699=)
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) rs2125193925
NM_201253.3(CRB1):c.2100G>A (p.Arg700=) rs2125472092
NM_201253.3(CRB1):c.2112C>T (p.Gly704=)
NM_201253.3(CRB1):c.2124G>A (p.Leu708=) rs2125472182
NM_201253.3(CRB1):c.2128+14G>A rs2125472215
NM_201253.3(CRB1):c.2128+18del
NM_201253.3(CRB1):c.2128+19C>T
NM_201253.3(CRB1):c.2128+1G>C rs2125472205
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2129-1G>A
NM_201253.3(CRB1):c.2129-1G>C rs1664642051
NM_201253.3(CRB1):c.2129-1G>T
NM_201253.3(CRB1):c.2129-20C>T
NM_201253.3(CRB1):c.2129-2A>C
NM_201253.3(CRB1):c.2129-2A>G
NM_201253.3(CRB1):c.2129-5T>G
NM_201253.3(CRB1):c.2129-7A>C
NM_201253.3(CRB1):c.2129-7A>T rs773844151
NM_201253.3(CRB1):c.2129A>G (p.Glu710Gly) rs145282040
NM_201253.3(CRB1):c.2130G>A (p.Glu710=)
NM_201253.3(CRB1):c.2132_2133del (p.Tyr711fs)
NM_201253.3(CRB1):c.2133T>C (p.Tyr711=)
NM_201253.3(CRB1):c.2137G>A (p.Ala713Thr) rs2125483533
NM_201253.3(CRB1):c.2139A>G (p.Ala713=) rs2125483545
NM_201253.3(CRB1):c.213A>G (p.Lys71=) rs2125303816
NM_201253.3(CRB1):c.2141G>A (p.Gly714Asp) rs2125483555
NM_201253.3(CRB1):c.2142C>A (p.Gly714=)
NM_201253.3(CRB1):c.2150del (p.Gly717fs) rs2125483574
NM_201253.3(CRB1):c.2158G>A (p.Asp720Asn)
NM_201253.3(CRB1):c.2159A>G (p.Asp720Gly)
NM_201253.3(CRB1):c.2168G>T (p.Gly723Val) rs759961722
NM_201253.3(CRB1):c.2171_2172del (p.Tyr724fs)
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
NM_201253.3(CRB1):c.2174T>A (p.Val725Asp)
NM_201253.3(CRB1):c.2174T>C (p.Val725Ala)
NM_201253.3(CRB1):c.2175C>A (p.Val725=) rs1021271157
NM_201253.3(CRB1):c.2178C>A (p.Ile726=)
NM_201253.3(CRB1):c.2184T>A (p.Thr728=) rs777644631
NM_201253.3(CRB1):c.2187T>C (p.Leu729=)
NM_201253.3(CRB1):c.218C>T (p.Pro73Leu)
NM_201253.3(CRB1):c.2190T>C (p.Asp730=)
NM_201253.3(CRB1):c.2195_2204del (p.Ser732fs)
NM_201253.3(CRB1):c.2196C>G (p.Ser732Arg)
NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys)
NM_201253.3(CRB1):c.2205C>T (p.Asp735=)
NM_201253.3(CRB1):c.2208C>T (p.Thr736=) rs1265675307
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2223G>A (p.Met741Ile) rs1664649489
NM_201253.3(CRB1):c.2226T>C (p.Phe742=) rs1664649939
NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC (p.Arg744fs) rs1664650245
NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) rs28939720
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu) rs1664651920
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser) rs2125483920
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) rs2125483925
NM_201253.3(CRB1):c.2254C>T (p.Leu752Phe) rs2125483936
NM_201253.3(CRB1):c.2257C>T (p.Leu753=) rs2125483948
NM_201253.3(CRB1):c.2257_2264dup (p.Leu755delinsPheTer)
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2259A>G (p.Leu753=) rs2125483955
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)
NM_201253.3(CRB1):c.2268A>G (p.Glu756=) rs1240250876
NM_201253.3(CRB1):c.2272A>G (p.Ser758Gly)
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2274C>T (p.Ser758=)
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala) rs1485086776
NM_201253.3(CRB1):c.2277T>C (p.Thr759=) rs2125484014
NM_201253.3(CRB1):c.2278T>A (p.Tyr760Asn) rs2125484022
NM_201253.3(CRB1):c.2280T>C (p.Tyr760=)
NM_201253.3(CRB1):c.2288T>A (p.Ile763Asn) rs2125484063
NM_201253.3(CRB1):c.228C>T (p.Ser76=)
NM_201253.3(CRB1):c.2293_2294del (p.Val765fs)
NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)
NM_201253.3(CRB1):c.2301A>G (p.Leu767=) rs2125484113
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro) rs62636287
NM_201253.3(CRB1):c.2307C>G (p.Arg769=)
NM_201253.3(CRB1):c.2311A>G (p.Arg771Gly)
NM_201253.3(CRB1):c.2316A>G (p.Leu772=) rs964544440
NM_201253.3(CRB1):c.2327C>T (p.Thr776Ile) rs1293863321
NM_201253.3(CRB1):c.2328T>C (p.Thr776=)
NM_201253.3(CRB1):c.2329C>G (p.Pro777Ala)
NM_201253.3(CRB1):c.2334C>G (p.Asn778Lys)
NM_201253.3(CRB1):c.2334C>T (p.Asn778=) rs765210114
NM_201253.3(CRB1):c.2339C>T (p.Pro780Leu)
NM_201253.3(CRB1):c.2340C>T (p.Pro780=) rs2125484301
NM_201253.3(CRB1):c.2343A>G (p.Lys781=)
NM_201253.3(CRB1):c.2344T>G (p.Leu782Val)
NM_201253.3(CRB1):c.2346A>G (p.Leu782=)
NM_201253.3(CRB1):c.234C>G (p.Pro78=) rs1216212132
NM_201253.3(CRB1):c.2355del (p.Lys785fs)
NM_201253.3(CRB1):c.2358T>C (p.Phe786=) rs1371610654
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)
NM_201253.3(CRB1):c.2379C>T (p.Val793=) rs2125484466
NM_201253.3(CRB1):c.2380C>A (p.His794Asn) rs1294237377
NM_201253.3(CRB1):c.2382C>G (p.His794Gln)
NM_201253.3(CRB1):c.2382C>T (p.His794=)
NM_201253.3(CRB1):c.2383T>C (p.Leu795=)
NM_201253.3(CRB1):c.2387T>C (p.Ile796Thr)
NM_201253.3(CRB1):c.238C>G (p.Gln80Glu) rs1658660736
NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter) rs2125484499
NM_201253.3(CRB1):c.239A>T (p.Gln80Leu) rs1658660906
NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu) rs1558132026
NM_201253.3(CRB1):c.2406A>C (p.Pro802=) rs141103073
NM_201253.3(CRB1):c.2406A>G (p.Pro802=)
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro) rs1664667136
NM_201253.3(CRB1):c.2421G>C (p.Leu807=) rs2125484620
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys) rs1009552469
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) rs1571540037
NM_201253.3(CRB1):c.2433A>G (p.Ser811=) rs2125484661
NM_201253.3(CRB1):c.2459C>T (p.Ser820Phe)
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn) rs1658661237
NM_201253.3(CRB1):c.2462C>G (p.Thr821Arg) rs142857810
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter) rs1664669402
NM_201253.3(CRB1):c.246T>C (p.Ser82=)
NM_201253.3(CRB1):c.2472C>A (p.Ile824=)
NM_201253.3(CRB1):c.2478G>A (p.Lys826=) rs1174487197
NM_201253.3(CRB1):c.2479G>A (p.Gly827Arg) rs62636269
NM_201253.3(CRB1):c.2487C>T (p.Val829=)
NM_201253.3(CRB1):c.2493C>T (p.Tyr831=) rs2125484854
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys) rs1664671663
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.249C>T (p.Ala83=)
NM_201253.3(CRB1):c.24C>T (p.Tyr8=) rs1044326530
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) rs1085307972
NM_201253.3(CRB1):c.2505A>G (p.Leu835=)
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs) rs778419716
NM_201253.3(CRB1):c.250A>G (p.Thr84Ala) rs1658661930
NM_201253.3(CRB1):c.2517A>G (p.Gln839=)
NM_201253.3(CRB1):c.2522C>T (p.Thr841Ile) rs2125484956
NM_201253.3(CRB1):c.2527_2598del (p.Leu843_Pro866del)
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu) rs772476137
NM_201253.3(CRB1):c.2541C>T (p.Phe847=) rs1664675234
NM_201253.3(CRB1):c.2541_2542del (p.Phe848fs) rs2125485040
NM_201253.3(CRB1):c.2543del (p.Phe848fs)
NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)
NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp) rs757137398
NM_201253.3(CRB1):c.254G>T (p.Cys85Phe)
NM_201253.3(CRB1):c.2552G>C (p.Cys851Ser)
NM_201253.3(CRB1):c.2553T>C (p.Cys851=)
NM_201253.3(CRB1):c.2557C>A (p.Gln853Lys)
NM_201253.3(CRB1):c.2565A>G (p.Val855=)
NM_201253.3(CRB1):c.2567G>A (p.Arg856Lys)
NM_201253.3(CRB1):c.2568A>C (p.Arg856Ser)
NM_201253.3(CRB1):c.2569C>T (p.Leu857=) rs1571540576
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) rs1664678030
NM_201253.3(CRB1):c.2570dup (p.Asn858fs) rs2125485135
NM_201253.3(CRB1):c.2574C>T (p.Asn858=) rs2125485154
NM_201253.3(CRB1):c.2578del (p.Gln860fs) rs1558132353
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2582A>C (p.Asn861Thr) rs1664679702
NM_201253.3(CRB1):c.2582del (p.Asn861fs)
NM_201253.3(CRB1):c.2583T>C (p.Asn861=) rs2125485214
NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)
NM_201253.3(CRB1):c.2598A>G (p.Pro866=) rs1336253157
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu) rs1664680830
NM_201253.3(CRB1):c.2612A>G (p.Asn871Ser)
NM_201253.3(CRB1):c.2614G>A (p.Ala872Thr)
NM_201253.3(CRB1):c.2616A>C (p.Ala872=) rs2125485328
NM_201253.3(CRB1):c.2622C>G (p.Leu874=)
NM_201253.3(CRB1):c.2628A>G (p.Pro876=) rs778063991
NM_201253.3(CRB1):c.2634T>C (p.Leu878=) rs2125485390
NM_201253.3(CRB1):c.2635G>A (p.Val879Ile)
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys) rs2125485441
NM_201253.3(CRB1):c.2643A>G (p.Val881=) rs1434264303
NM_201253.3(CRB1):c.2645C>T (p.Thr882Ile)
NM_201253.3(CRB1):c.2646C>G (p.Thr882=) rs2125485474
NM_201253.3(CRB1):c.2647C>A (p.Gln883Lys) rs2125485481
NM_201253.3(CRB1):c.2647del (p.Gln883fs) rs2125485467
NM_201253.3(CRB1):c.264C>A (p.Thr88=) rs2125303935
NM_201253.3(CRB1):c.264C>T (p.Thr88=)
NM_201253.3(CRB1):c.2651_2652delinsAT (p.Gly884Asp) rs2125485510
NM_201253.3(CRB1):c.2655T>C (p.Cys885=)
NM_201253.3(CRB1):c.2667C>T (p.Asn889=)
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
NM_201253.3(CRB1):c.2676+11C>A
NM_201253.3(CRB1):c.2676+12T>G
NM_201253.3(CRB1):c.2676+15T>A rs370353322
NM_201253.3(CRB1):c.2676+15T>C rs370353322
NM_201253.3(CRB1):c.2676+16A>G
NM_201253.3(CRB1):c.2676+4A>G
NM_201253.3(CRB1):c.2676+5T>C
NM_201253.3(CRB1):c.2676+7A>T rs774387451
NM_201253.3(CRB1):c.2677-13C>A
NM_201253.3(CRB1):c.2677-20T>C
NM_201253.3(CRB1):c.2682C>T (p.Asn894=)
NM_201253.3(CRB1):c.2683C>A (p.Pro895Thr) rs781635398
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)
NM_201253.3(CRB1):c.2688T>C (p.Cys896=)
NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)
NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala)
NM_201253.3(CRB1):c.2696G>T (p.Gly899Val) rs1254393801
NM_201253.3(CRB1):c.2698G>A (p.Gly900Ser) rs2125488768
NM_201253.3(CRB1):c.2703T>A (p.Val901=) rs2125488798
NM_201253.3(CRB1):c.2703T>C (p.Val901=)
NM_201253.3(CRB1):c.2712C>T (p.Ser904=) rs1322966199
NM_201253.3(CRB1):c.2715G>T (p.Arg905=)
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter) rs2125488868
NM_201253.3(CRB1):c.2727C>A (p.Phe909Leu)
NM_201253.3(CRB1):c.2736C>T (p.Ser912=)
NM_201253.3(CRB1):c.2742T>C (p.Pro914=) rs2125488923
NM_201253.3(CRB1):c.2745C>T (p.Ala915=) rs1664770222
NM_201253.3(CRB1):c.2748C>T (p.Leu916=) rs1664770624
NM_201253.3(CRB1):c.2751A>G (p.Thr917=) rs936120896
NM_201253.3(CRB1):c.2751A>T (p.Thr917=)
NM_201253.3(CRB1):c.2763C>G (p.Ala921=) rs2125489012
NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter) rs2125489019
NM_201253.3(CRB1):c.2769G>A (p.Glu923=)
NM_201253.3(CRB1):c.276_294delinsTGAACACTGTAC (p.Arg92fs)
NM_201253.3(CRB1):c.2772G>A (p.Glu924=) rs1664772199
NM_201253.3(CRB1):c.2775T>G (p.Val925=)
NM_201253.3(CRB1):c.2779T>C (p.Trp927Arg)
NM_201253.3(CRB1):c.2784T>G (p.Cys928Trp)
NM_201253.3(CRB1):c.2796G>C (p.Pro932=)
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) rs1558133731
NM_201253.3(CRB1):c.2799T>C (p.Cys933=) rs1334984837
NM_201253.3(CRB1):c.2802T>C (p.Pro934=)
NM_201253.3(CRB1):c.2805C>A (p.His935Gln) rs767706271
NM_201253.3(CRB1):c.2805C>T (p.His935=)
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
NM_201253.3(CRB1):c.2811C>A (p.Ala937=)
NM_201253.3(CRB1):c.2814G>A (p.Gln938=)
NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg) rs1664775504
NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)
NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)
NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter) rs2125489182
NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)
NM_201253.3(CRB1):c.2824G>A (p.Val942Met)
NM_201253.3(CRB1):c.2826G>A (p.Val942=) rs781176401
NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2839G>C (p.Glu947Gln)
NM_201253.3(CRB1):c.2842+10G>A
NM_201253.3(CRB1):c.2842+13C>T
NM_201253.3(CRB1):c.2842+20A>G
NM_201253.3(CRB1):c.2842+20A>T
NM_201253.3(CRB1):c.2842+2T>C rs2125489334
NM_201253.3(CRB1):c.2842+7A>G rs2125489345
NM_201253.3(CRB1):c.2842+8G>T
NM_201253.3(CRB1):c.2842+9A>T
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)
NM_201253.3(CRB1):c.2843-15A>G
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.2843-3dup rs776525385
NM_201253.3(CRB1):c.2843-4T>A
NM_201253.3(CRB1):c.2843-4_2843-2del
NM_201253.3(CRB1):c.2843-5A>T
NM_201253.3(CRB1):c.2847T>A (p.Ile949=) rs2125498699
NM_201253.3(CRB1):c.2847T>C (p.Ile949=)
NM_201253.3(CRB1):c.2849C>T (p.Ala950Val) rs1665039717
NM_201253.3(CRB1):c.2862T>C (p.Phe954=)
NM_201253.3(CRB1):c.2865T>C (p.Asn955=) rs2125498741
NM_201253.3(CRB1):c.2867G>T (p.Gly956Val) rs267598279
NM_201253.3(CRB1):c.2868A>G (p.Gly956=) rs1359395833
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) rs878853371
NM_201253.3(CRB1):c.2874C>A (p.Ser958Arg) rs372778560
NM_201253.3(CRB1):c.2877T>A (p.Gly959=)
NM_201253.3(CRB1):c.2881del (p.Ile961fs)
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del) rs62645745
NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)
NM_201253.3(CRB1):c.2889C>G (p.Phe963Leu) rs905306614
NM_201253.3(CRB1):c.288C>T (p.Cys96=)
NM_201253.3(CRB1):c.2898T>C (p.Asn966=) rs2125498858
NM_201253.3(CRB1):c.2901G>A (p.Gly967=) rs773815247
NM_201253.3(CRB1):c.2901G>C (p.Gly967=) rs773815247
NM_201253.3(CRB1):c.2904dup (p.Ile969fs)
NM_201253.3(CRB1):c.2907T>C (p.Ile969=)
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile) rs766793013
NM_201253.3(CRB1):c.2914G>C (p.Glu972Gln) rs1665045248
NM_201253.3(CRB1):c.2922C>G (p.Thr974=)
NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr) rs2125498956
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys) rs1665046846
NM_201253.3(CRB1):c.2939T>A (p.Phe980Tyr) rs1665047363
NM_201253.3(CRB1):c.2939T>G (p.Phe980Cys) rs1665047363
NM_201253.3(CRB1):c.2942_2943del (p.Arg981fs) rs1290879180
NM_201253.3(CRB1):c.2949G>A (p.Arg983=) rs2125499002
NM_201253.3(CRB1):c.2951A>C (p.Asp984Ala) rs1227467460
NM_201253.3(CRB1):c.2955_2956insGA (p.Asn986fs)
NM_201253.3(CRB1):c.2958T>C (p.Asn986=)
NM_201253.3(CRB1):c.2961A>G (p.Val987=)
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr) rs1571555801
NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr)
NM_201253.3(CRB1):c.2967A>T (p.Ile989=)
NM_201253.3(CRB1):c.2969del (p.Leu990fs)
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.2982_3064dup (p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer)
NM_201253.3(CRB1):c.2985G>T (p.Glu995Asp)
NM_201253.3(CRB1):c.298C>T (p.Pro100Ser) rs1404279052
NM_201253.3(CRB1):c.299C>T (p.Pro100Leu) rs2125304021
NM_201253.3(CRB1):c.3007A>G (p.Ile1003Val)
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe) rs910299744
NM_201253.3(CRB1):c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe)
NM_201253.3(CRB1):c.3014A>G (p.Asp1005Gly) rs369184026
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) rs143511261
NM_201253.3(CRB1):c.303G>C (p.Gly101=)
NM_201253.3(CRB1):c.3041G>A (p.Ser1014Asn)
NM_201253.3(CRB1):c.3048C>T (p.Asn1016=) rs2125499296
NM_201253.3(CRB1):c.3049A>G (p.Ser1017Gly) rs2125499301
NM_201253.3(CRB1):c.3051C>T (p.Ser1017=)
NM_201253.3(CRB1):c.3054T>C (p.Phe1018=) rs963461440
NM_201253.3(CRB1):c.3055_3059dup (p.Met1020fs)
NM_201253.3(CRB1):c.3069G>A (p.Leu1023=)
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3075T>C (p.Ser1025=)
NM_201253.3(CRB1):c.3085G>A (p.Val1029Met) rs757383417
NM_201253.3(CRB1):c.308G>T (p.Ser103Ile) rs116254396
NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn) rs2125499421
NM_201253.3(CRB1):c.3093T>C (p.Asp1031=)
NM_201253.3(CRB1):c.3098C>T (p.Thr1033Ile)
NM_201253.3(CRB1):c.3099A>G (p.Thr1033=) rs2125499446
NM_201253.3(CRB1):c.30C>G (p.Leu10=)
NM_201253.3(CRB1):c.30C>T (p.Leu10=)
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) rs1665062132
NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter) rs2125499463
NM_201253.3(CRB1):c.3106G>A (p.Glu1036Lys)
NM_201253.3(CRB1):c.3108A>G (p.Glu1036=) rs2125499489
NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs) rs1665063400
NM_201253.3(CRB1):c.3111G>C (p.Val1037=)
NM_201253.3(CRB1):c.3112_3113dup (p.Leu1039fs)
NM_201253.3(CRB1):c.3120C>T (p.Ser1040=) rs1571556490
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.312G>A (p.Gly104=) rs2125304069
NM_201253.3(CRB1):c.3134del (p.Leu1045fs) rs2125499552
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) rs1665065652
NM_201253.3(CRB1):c.3142_3149del (p.Thr1048fs)
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) rs1665066272
NM_201253.3(CRB1):c.3144C>T (p.Thr1048=) rs2125499576
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)
NM_201253.3(CRB1):c.3147C>T (p.Ser1049=)
NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter)
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr) rs727503889
NM_201253.3(CRB1):c.316A>C (p.Ile106Leu)
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.3173A>G (p.Glu1058Gly)
NM_201253.3(CRB1):c.3179C>T (p.Pro1060Leu)
NM_201253.3(CRB1):c.3183T>A (p.Phe1061Leu)
NM_201253.3(CRB1):c.3189C>T (p.Thr1063=)
NM_201253.3(CRB1):c.318C>T (p.Ile106=)
NM_201253.3(CRB1):c.3195A>G (p.Thr1065=) rs1571556837
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.3204T>C (p.Thr1068=)
NM_201253.3(CRB1):c.3209G>T (p.Ser1070Ile) rs1665074618
NM_201253.3(CRB1):c.320G>T (p.Cys107Phe)
NM_201253.3(CRB1):c.3211C>T (p.Leu1071Phe) rs398124614
NM_201253.3(CRB1):c.3213C>T (p.Leu1071=) rs2125499764
NM_201253.3(CRB1):c.3224A>C (p.Lys1075Thr) rs2125499800
NM_201253.3(CRB1):c.3225G>A (p.Lys1075=)
NM_201253.3(CRB1):c.3231T>C (p.Asn1077=) rs2125499828
NM_201253.3(CRB1):c.3232A>G (p.Thr1078Ala)
NM_201253.3(CRB1):c.3243T>C (p.Tyr1081=) rs1665078340
NM_201253.3(CRB1):c.3255A>G (p.Arg1085=)
NM_201253.3(CRB1):c.3256G>T (p.Ala1086Ser) rs2125499915
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663
NM_201253.3(CRB1):c.3258T>C (p.Ala1086=)
NM_201253.3(CRB1):c.3267T>C (p.Asn1089=)
NM_201253.3(CRB1):c.3270A>T (p.Ile1090=)
NM_201253.3(CRB1):c.3273G>A (p.Lys1091=) rs2125499953
NM_201253.3(CRB1):c.3274G>A (p.Gly1092Ser) rs1402562231
NM_201253.3(CRB1):c.3277C>T (p.Leu1093=) rs1051901493
NM_201253.3(CRB1):c.3279G>A (p.Leu1093=)
NM_201253.3(CRB1):c.3282A>C (p.Gln1094His)
NM_201253.3(CRB1):c.3282A>G (p.Gln1094=) rs752719776
NM_201253.3(CRB1):c.3282A>T (p.Gln1094His) rs752719776
NM_201253.3(CRB1):c.3285G>A (p.Gly1095=)
NM_201253.3(CRB1):c.3285G>T (p.Gly1095=) rs1030214290
NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)
NM_201253.3(CRB1):c.328A>G (p.Thr110Ala)
NM_201253.3(CRB1):c.3292del (p.Ser1098fs)
NM_201253.3(CRB1):c.3297A>G (p.Thr1099=) rs2125500012
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3304A>G (p.Ile1102Val)
NM_201253.3(CRB1):c.3306C>A (p.Ile1102=)
NM_201253.3(CRB1):c.3309A>G (p.Gly1103=)
NM_201253.3(CRB1):c.3312C>G (p.Gly1104=)
NM_201253.3(CRB1):c.3312C>T (p.Gly1104=)
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3325_3326del (p.Tyr1109fs) rs2125500141
NM_201253.3(CRB1):c.3325dup (p.Tyr1109fs) rs2125500127
NM_201253.3(CRB1):c.3327C>T (p.Tyr1109=)
NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys) rs1665086143
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter) rs62636277
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg) rs779253997
NM_201253.3(CRB1):c.3345T>C (p.Gly1115=) rs1665087283
NM_201253.3(CRB1):c.3348C>T (p.Phe1116=)
NM_201253.3(CRB1):c.3357A>G (p.Lys1119=)
NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter) rs2125500230
NM_201253.3(CRB1):c.3373T>C (p.Phe1125Leu)
NM_201253.3(CRB1):c.3384C>A (p.Ile1128=) rs2125500314
NM_201253.3(CRB1):c.3387T>G (p.Ser1129=)
NM_201253.3(CRB1):c.338C>T (p.Ser113Phe)
NM_201253.3(CRB1):c.3395_3879-490del
NM_201253.3(CRB1):c.3396A>T (p.Ser1132=) rs1209147052
NM_201253.3(CRB1):c.3398T>C (p.Val1133Ala)
NM_201253.3(CRB1):c.339C>T (p.Ser113=) rs1220315666
NM_201253.3(CRB1):c.3406G>A (p.Gly1136Ser)
NM_201253.3(CRB1):c.3408C>A (p.Gly1136=) rs2125500386
NM_201253.3(CRB1):c.3408C>G (p.Gly1136=)
NM_201253.3(CRB1):c.3411T>C (p.Cys1137=)
NM_201253.3(CRB1):c.3412T>C (p.Leu1138=)
NM_201253.3(CRB1):c.3418T>C (p.Leu1140=)
NM_201253.3(CRB1):c.3418T>G (p.Leu1140Val)
NM_201253.3(CRB1):c.3427T>C (p.Cys1143Arg)
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201253.3(CRB1):c.3429C>A (p.Cys1143Ter)
NM_201253.3(CRB1):c.3429C>T (p.Cys1143=)
NM_201253.3(CRB1):c.3432C>T (p.Asn1144=) rs199596437
NM_201253.3(CRB1):c.3438C>T (p.Asn1146=)
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg) rs2125500491
NM_201253.3(CRB1):c.3445T>C (p.Leu1149=) rs2125500500
NM_201253.3(CRB1):c.344_356dup (p.Cys119fs)
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) rs1558138741
NM_201253.3(CRB1):c.345C>G (p.Gly115=)
NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser)
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3466G>A (p.Asp1156Asn)
NM_201253.3(CRB1):c.3473A>G (p.Tyr1158Cys) rs2125500588
NM_201253.3(CRB1):c.3477C>T (p.Ser1159=) rs2125500600
NM_201253.3(CRB1):c.3482A>G (p.Tyr1161Cys) rs1414707912
NM_201253.3(CRB1):c.3485A>G (p.His1162Arg) rs2125500617
NM_201253.3(CRB1):c.3489C>T (p.Cys1163=)
NM_201253.3(CRB1):c.3491C>T (p.Ser1164Phe) rs761492989
NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)
NM_201253.3(CRB1):c.3507_3508del (p.Trp1169fs)
NM_201253.3(CRB1):c.3510A>G (p.Ser1170=) rs1665100853
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3521G>A (p.Cys1174Tyr) rs1665102302
NM_201253.3(CRB1):c.3526C>T (p.Leu1176Phe)
NM_201253.3(CRB1):c.3528C>G (p.Leu1176=) rs2125500753
NM_201253.3(CRB1):c.3531C>T (p.Asn1177=)
NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val)
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
NM_201253.3(CRB1):c.3538G>A (p.Glu1180Lys)
NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter)
NM_201253.3(CRB1):c.353C>T (p.Ser118Phe)
NM_201253.3(CRB1):c.3540_3541dup (p.Cys1181fs) rs2125500799
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) rs1553263218
NM_201253.3(CRB1):c.354C>T (p.Ser118=)
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly) rs1658671611
NM_201253.3(CRB1):c.3561C>T (p.Ile1187=)
NM_201253.3(CRB1):c.3563A>G (p.His1188Arg) rs1665105838
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln) rs376271122
NM_201253.3(CRB1):c.3583G>T (p.Val1195Phe) rs1558138977
NM_201253.3(CRB1):c.3585T>C (p.Val1195=) rs1007859886
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3596A>G (p.His1199Arg)
NM_201253.3(CRB1):c.3603A>G (p.Thr1201=)
NM_201253.3(CRB1):c.360A>G (p.Gln120=) rs1658671916
NM_201253.3(CRB1):c.3617A>T (p.Tyr1206Phe)
NM_201253.3(CRB1):c.3621T>C (p.Thr1207=)
NM_201253.3(CRB1):c.3623G>T (p.Gly1208Val)
NM_201253.3(CRB1):c.3630del (p.Cys1211fs)
NM_201253.3(CRB1):c.3631T>A (p.Cys1211Ser)
NM_201253.3(CRB1):c.3636A>G (p.Glu1212=) rs2125500988
NM_201253.3(CRB1):c.3643A>G (p.Ile1215Val) rs753102573
NM_201253.3(CRB1):c.3647A>G (p.Asp1216Gly) rs2125501023
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser) rs1450635782
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3658_3659del (p.His1221fs)
NM_201253.3(CRB1):c.3663C>T (p.His1221=) rs1250767401
NM_201253.3(CRB1):c.3666G>A (p.Gln1222=)
NM_201253.3(CRB1):c.3667dup (p.Cys1223fs)
NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)
NM_201253.3(CRB1):c.3679G>A (p.Ala1227Thr)
NM_201253.3(CRB1):c.3681C>A (p.Ala1227=)
NM_201253.3(CRB1):c.3684C>T (p.Thr1228=)
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)
NM_201253.3(CRB1):c.3687C>T (p.Cys1229=)
NM_201253.3(CRB1):c.3698C>T (p.Thr1233Ile) rs1665116355
NM_201253.3(CRB1):c.3699T>C (p.Thr1233=)
NM_201253.3(CRB1):c.3708_3709dup (p.Ser1237fs)
NM_201253.3(CRB1):c.370A>T (p.Ile124Phe)
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
NM_201253.3(CRB1):c.3717C>T (p.Leu1239=) rs370095562
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3729T>C (p.Asn1243=)
NM_201253.3(CRB1):c.3729T>G (p.Asn1243Lys)
NM_201253.3(CRB1):c.372T>C (p.Ile124=)
NM_201253.3(CRB1):c.3735A>T (p.Thr1245=)
NM_201253.3(CRB1):c.3749+13T>C
NM_201253.3(CRB1):c.3749+15C>G
NM_201253.3(CRB1):c.3749+17T>C
NM_201253.3(CRB1):c.3749+18A>C
NM_201253.3(CRB1):c.3749+1G>A rs2125501295
NM_201253.3(CRB1):c.3749+2_3749+3del rs1665120314
NM_201253.3(CRB1):c.3749+5G>A
NM_201253.3(CRB1):c.3749+8T>A rs2125501305
NM_201253.3(CRB1):c.3749+9A>G
NM_201253.3(CRB1):c.3750-10A>G
NM_201253.3(CRB1):c.3750-16G>A
NM_201253.3(CRB1):c.3750-16G>C
NM_201253.3(CRB1):c.3750-6C>T
NM_201253.3(CRB1):c.3753G>A (p.Gln1251=) rs1665273242
NM_201253.3(CRB1):c.3762A>G (p.Leu1254=) rs2125506161
NM_201253.3(CRB1):c.3762del (p.Leu1254fs)
NM_201253.3(CRB1):c.3773T>G (p.Val1258Gly) rs2125506192
NM_201253.3(CRB1):c.3777T>C (p.Cys1259=)
NM_201253.3(CRB1):c.377A>G (p.His126Arg) rs1300735825
NM_201253.3(CRB1):c.3783T>C (p.Asn1261=)
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys) rs1007094417
NM_201253.3(CRB1):c.3785A>G (p.Glu1262Gly)
NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter) rs2125506218
NM_201253.3(CRB1):c.3795T>C (p.Asn1265=) rs2125506234
NM_201253.3(CRB1):c.379C>T (p.Gln127Ter) rs1658673791
NM_201253.3(CRB1):c.3804C>T (p.Cys1268=) rs2125506255
NM_201253.3(CRB1):c.3813A>C (p.Gly1271=)
NM_201253.3(CRB1):c.381G>A (p.Gln127=) rs6690444
NM_201253.3(CRB1):c.3822C>A (p.Cys1274Ter)
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3825A>G (p.Thr1275=)
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)
NM_201253.3(CRB1):c.3840A>T (p.Glu1280Asp)
NM_201253.3(CRB1):c.3846A>G (p.Lys1282=)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) rs1665279435
NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg) rs1665279918
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
NM_201253.3(CRB1):c.3860del (p.Pro1287fs) rs2125506442
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp) rs533997742
NM_201253.3(CRB1):c.3867T>C (p.Phe1289=)
NM_201253.3(CRB1):c.3870T>C (p.Thr1290=)
NM_201253.3(CRB1):c.3878+10_3878+15del rs2125506544
NM_201253.3(CRB1):c.3878+10_3878+17del
NM_201253.3(CRB1):c.3878+12T>C
NM_201253.3(CRB1):c.3878+14G>C
NM_201253.3(CRB1):c.3878+17C>A
NM_201253.3(CRB1):c.3878+17C>G
NM_201253.3(CRB1):c.3878+17C>T
NM_201253.3(CRB1):c.3878+1G>A rs748927280
NM_201253.3(CRB1):c.3878+2dup rs1665282720
NM_201253.3(CRB1):c.3878+7C>T
NM_201253.3(CRB1):c.3878+9C>T rs1571564812
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_201253.3(CRB1):c.3879-13G>A
NM_201253.3(CRB1):c.3879-15C>T
NM_201253.3(CRB1):c.3879-15_3879-12del rs2125513517
NM_201253.3(CRB1):c.3879-16T>A
NM_201253.3(CRB1):c.3879-16T>C
NM_201253.3(CRB1):c.3879-16T>G rs376774507
NM_201253.3(CRB1):c.3879-4G>T rs373719645
NM_201253.3(CRB1):c.3879-9A>G rs2125513531
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) rs281865174
NM_201253.3(CRB1):c.387T>C (p.Pro129=)
NM_201253.3(CRB1):c.3881G>T (p.Cys1294Phe) rs754575460
NM_201253.3(CRB1):c.3887del (p.Lys1296fs) rs765536137
NM_201253.3(CRB1):c.3891C>T (p.Asp1297=)
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)
NM_201253.3(CRB1):c.3909T>C (p.Ser1303=) rs2125513623
NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)
NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
NM_201253.3(CRB1):c.3915G>C (p.Pro1305=) rs541488801
NM_201253.3(CRB1):c.3917G>A (p.Cys1306Tyr) rs2125513658
NM_201253.3(CRB1):c.3921C>G (p.Val1307=) rs1223786607
NM_201253.3(CRB1):c.3923A>G (p.Asn1308Ser) rs747631811
NM_201253.3(CRB1):c.3928G>A (p.Gly1310Ser) rs1411240510
NM_201253.3(CRB1):c.3929G>C (p.Gly1310Ala) rs778373995
NM_201253.3(CRB1):c.3933G>A (p.Leu1311=) rs372846698
NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe)
NM_201253.3(CRB1):c.3936C>T (p.Cys1312=)
NM_201253.3(CRB1):c.3946_3949del (p.Leu1316fs)
NM_201253.3(CRB1):c.3947T>G (p.Leu1316Arg)
NM_201253.3(CRB1):c.3950del (p.Asn1317fs)
NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter) rs1665482895
NM_201253.3(CRB1):c.3954A>G (p.Lys1318=) rs1267070832
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.396T>C (p.Pro132=)
NM_201253.3(CRB1):c.3972T>C (p.Asp1324=)
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup) rs750573216
NM_201253.3(CRB1):c.3987C>T (p.Gly1329=)
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter) rs1372774777
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.3990G>A (p.Glu1330=)
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) rs1665487563
NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp) rs1665487563
NM_201253.3(CRB1):c.3996C>T (p.Cys1332=)
NM_201253.3(CRB1):c.399C>G (p.Val133=)
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4005+1G>C rs890453675
NM_201253.3(CRB1):c.4005+2T>C rs2125514028
NM_201253.3(CRB1):c.4005+2T>G
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.4005C>T (p.Asp1335=)
NM_201253.3(CRB1):c.4006-11A>G
NM_201253.3(CRB1):c.4006-17G>T
NM_201253.3(CRB1):c.4006-18T>G rs2125573687
NM_201253.3(CRB1):c.4006-19A>G
NM_201253.3(CRB1):c.4006-1G>A
NM_201253.3(CRB1):c.4006-1G>C rs752804194
NM_201253.3(CRB1):c.4006-1G>T rs752804194
NM_201253.3(CRB1):c.4009G>A (p.Ala1337Thr)
NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu)
NM_201253.3(CRB1):c.4014T>C (p.Asp1338=) rs778204458
NM_201253.3(CRB1):c.4026C>G (p.Ser1342=)
NM_201253.3(CRB1):c.4029C>T (p.Asp1343=) rs780087216
NM_201253.3(CRB1):c.4038C>T (p.Thr1346=) rs1667257557
NM_201253.3(CRB1):c.4046G>A (p.Gly1349Asp) rs761584516
NM_201253.3(CRB1):c.4047C>A (p.Gly1349=)
NM_201253.3(CRB1):c.4050A>C (p.Ser1350=) rs771682304
NM_201253.3(CRB1):c.4053G>A (p.Val1351=) rs375396992
NM_201253.3(CRB1):c.4056T>G (p.Thr1352=) rs574285705
NM_201253.3(CRB1):c.405C>G (p.Ile135Met)
NM_201253.3(CRB1):c.4068A>G (p.Leu1356=) rs2125573927
NM_201253.3(CRB1):c.4077C>T (p.Leu1359=)
NM_201253.3(CRB1):c.407G>T (p.Cys136Phe) rs752559648
NM_201253.3(CRB1):c.4086C>T (p.Ala1362=) rs2125573975
NM_201253.3(CRB1):c.408C>T (p.Cys136=)
NM_201253.3(CRB1):c.40C>T (p.Leu14Phe)
NM_201253.3(CRB1):c.4101T>C (p.Val1367=)
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn) rs1667262233
NM_201253.3(CRB1):c.4107C>T (p.Thr1369=) rs1571645424
NM_201253.3(CRB1):c.4110C>T (p.Ser1370=) rs2125574047
NM_201253.3(CRB1):c.4117A>C (p.Arg1373=) rs2125574055
NM_201253.3(CRB1):c.4119G>A (p.Arg1373=)
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4125T>G (p.Thr1375=)
NM_201253.3(CRB1):c.4130G>A (p.Gly1377Glu)
NM_201253.3(CRB1):c.4131A>G (p.Gly1377=)
NM_201253.3(CRB1):c.4136A>C (p.Tyr1379Ser) rs1571645532
NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter) rs1206810310
NM_201253.3(CRB1):c.4137C>T (p.Tyr1379=) rs1206810310
NM_201253.3(CRB1):c.413C>A (p.Ala138Asp)
NM_201253.3(CRB1):c.4140C>A (p.Ser1380Arg)
NM_201253.3(CRB1):c.4140C>T (p.Ser1380=)
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.4142_4147del (p.Pro1381_Ser1382del) rs2125574108
NM_201253.3(CRB1):c.4147C>G (p.Arg1383Gly)
NM_201253.3(CRB1):c.4148G>T (p.Arg1383Leu)
NM_201253.3(CRB1):c.414T>C (p.Ala138=) rs1658677371
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
NM_201253.3(CRB1):c.4153G>C (p.Glu1385Gln)
NM_201253.3(CRB1):c.4160A>C (p.Glu1387Ala)
NM_201253.3(CRB1):c.4161G>A (p.Glu1387=)
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.4163G>T (p.Gly1388Val) rs765740058
NM_201253.3(CRB1):c.4164C>T (p.Gly1388=)
NM_201253.3(CRB1):c.4166C>T (p.Ser1389Phe) rs775906215
NM_201253.3(CRB1):c.4167C>A (p.Ser1389=)
NM_201253.3(CRB1):c.4167C>T (p.Ser1389=)
NM_201253.3(CRB1):c.4168dup (p.Arg1390fs)
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro) rs764581378
NM_201253.3(CRB1):c.416G>T (p.Gly139Val)
NM_201253.3(CRB1):c.4171G>C (p.Val1391Leu)
NM_201253.3(CRB1):c.4172T>G (p.Val1391Gly)
NM_201253.3(CRB1):c.4176_4177del (p.Glu1392fs) rs2125574236
NM_201253.3(CRB1):c.4196C>T (p.Pro1399Leu) rs1261177913
NM_201253.3(CRB1):c.4197C>T (p.Pro1399=) rs2125574291
NM_201253.3(CRB1):c.4199del (p.Pro1400fs)
NM_201253.3(CRB1):c.4202C>A (p.Ala1401Glu)
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) rs767920858
NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.4209G>A (p.Glu1403=) rs1490587812
NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp) rs1490587812
NM_201253.3(CRB1):c.4219T>C (p.Ter1407Gln) rs1667270315
NM_201253.3(CRB1):c.423T>A (p.Ala141=)
NM_201253.3(CRB1):c.425del (p.Gly142fs)
NM_201253.3(CRB1):c.42C>G (p.Leu14=) rs2125193970
NM_201253.3(CRB1):c.438G>A (p.Glu146=)
NM_201253.3(CRB1):c.439A>G (p.Ile147Val) rs2125304346
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.448G>A (p.Asp150Asn)
NM_201253.3(CRB1):c.450T>C (p.Asp150=) rs756735925
NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.465C>T (p.Ser155=)
NM_201253.3(CRB1):c.467C>T (p.Pro156Leu) rs1420941782
NM_201253.3(CRB1):c.470G>A (p.Cys157Tyr) rs2125304430
NM_201253.3(CRB1):c.477T>C (p.Asn159=)
NM_201253.3(CRB1):c.478G>T (p.Gly160Trp)
NM_201253.3(CRB1):c.480G>A (p.Gly160=)
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) rs1064797126
NM_201253.3(CRB1):c.481del (p.Ala161fs) rs62635048
NM_201253.3(CRB1):c.483C>G (p.Ala161=) rs370907719
NM_201253.3(CRB1):c.483C>T (p.Ala161=) rs370907719
NM_201253.3(CRB1):c.486G>A (p.Val162=) rs2125304480
NM_201253.3(CRB1):c.487T>G (p.Cys163Gly) rs2125304485
NM_201253.3(CRB1):c.490C>T (p.Gln164Ter) rs1658684590
NM_201253.3(CRB1):c.491A>G (p.Gln164Arg) rs952354514
NM_201253.3(CRB1):c.495T>C (p.Asp165=)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.502G>T (p.Asp168Tyr) rs773457531
NM_201253.3(CRB1):c.504T>C (p.Asp168=) rs765280046
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.510C>T (p.Tyr170=) rs1658687526
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys) rs763841981
NM_201253.3(CRB1):c.515G>T (p.Cys172Phe) rs756931963
NM_201253.3(CRB1):c.519C>T (p.Phe173=) rs540720099
NM_201253.3(CRB1):c.521G>C (p.Cys174Ser)
NM_201253.3(CRB1):c.522T>A (p.Cys174Ter) rs1658688864
NM_201253.3(CRB1):c.522T>C (p.Cys174=) rs1658688864
NM_201253.3(CRB1):c.523_532dup (p.Tyr178fs) rs1658689096
NM_201253.3(CRB1):c.526C>T (p.Pro176Ser)
NM_201253.3(CRB1):c.532T>C (p.Tyr178His)
NM_201253.3(CRB1):c.535C>T (p.Gln179Ter)
NM_201253.3(CRB1):c.543A>G (p.Arg181=) rs1405034397
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
NM_201253.3(CRB1):c.550G>A (p.Asp184Asn)
NM_201253.3(CRB1):c.551A>G (p.Asp184Gly)
NM_201253.3(CRB1):c.552C>T (p.Asp184=) rs2125304660
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) rs1658692554
NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)
NM_201253.3(CRB1):c.578A>G (p.Asp193Gly)
NM_201253.3(CRB1):c.579T>A (p.Asp193Glu)
NM_201253.3(CRB1):c.579T>C (p.Asp193=) rs1382054822
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.582C>G (p.Pro194=)
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
NM_201253.3(CRB1):c.586A>T (p.Lys196Ter)
NM_201253.3(CRB1):c.592G>A (p.Glu198Lys) rs1658694943
NM_201253.3(CRB1):c.5del (p.Ala2fs)
NM_201253.3(CRB1):c.604C>T (p.Leu202Phe)
NM_201253.3(CRB1):c.609T>C (p.Asn203=) rs1558057563
NM_201253.3(CRB1):c.60C>T (p.Ile20=)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.616G>A (p.Gly206Arg)
NM_201253.3(CRB1):c.624T>C (p.Tyr208=) rs1658697788
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
NM_201253.3(CRB1):c.629G>A (p.Cys210Tyr)
NM_201253.3(CRB1):c.62A>G (p.Tyr21Cys)
NM_201253.3(CRB1):c.630dup (p.Ile211fs)
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201253.3(CRB1):c.635G>C (p.Cys212Ser)
NM_201253.3(CRB1):c.636T>C (p.Cys212=) rs2125304873
NM_201253.3(CRB1):c.652+12C>A
NM_201253.3(CRB1):c.652+12C>G
NM_201253.3(CRB1):c.652+13A>G rs2125304913
NM_201253.3(CRB1):c.652+13AT[3]
NM_201253.3(CRB1):c.652+14T>A
NM_201253.3(CRB1):c.652+14T>C
NM_201253.3(CRB1):c.652+17C>T
NM_201253.3(CRB1):c.652+18_652+19del
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.652+20A>G
NM_201253.3(CRB1):c.652+3_652+6del rs1658700284
NM_201253.3(CRB1):c.653-10T>G rs1306679553
NM_201253.3(CRB1):c.653-11T>G
NM_201253.3(CRB1):c.653-1G>A rs760287363
NM_201253.3(CRB1):c.653-5A>G
NM_201253.3(CRB1):c.653-6del
NM_201253.3(CRB1):c.653-7_653-6del rs1659639143
NM_201253.3(CRB1):c.653-9T>G rs1361143166
NM_201253.3(CRB1):c.660C>T (p.Asn220=)
NM_201253.3(CRB1):c.663T>C (p.Cys221=)
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) rs778731851
NM_201253.3(CRB1):c.666A>T (p.Glu222Asp) rs1659641198
NM_201253.3(CRB1):c.667T>C (p.Leu223=)
NM_201253.3(CRB1):c.668dup (p.Leu223fs) rs2125328217
NM_201253.3(CRB1):c.66A>T (p.Ile22=) rs2125194017
NM_201253.3(CRB1):c.675T>C (p.Ile225=)
NM_201253.3(CRB1):c.677A>C (p.Asp226Ala)
NM_201253.3(CRB1):c.683G>A (p.Cys228Tyr) rs1163013240
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter) rs1659642763
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg) rs978649523
NM_201253.3(CRB1):c.698G>A (p.Cys233Tyr)
NM_201253.3(CRB1):c.699T>C (p.Cys233=) rs1659643864
NM_201253.3(CRB1):c.6A>C (p.Ala2=)
NM_201253.3(CRB1):c.70+10_70+14dup rs2125194046
NM_201253.3(CRB1):c.70+10dup
NM_201253.3(CRB1):c.70+13C>G
NM_201253.3(CRB1):c.70+17T>G
NM_201253.3(CRB1):c.70+18T>C
NM_201253.3(CRB1):c.70+18T>G
NM_201253.3(CRB1):c.70+1G>C
NM_201253.3(CRB1):c.70+20G>A
NM_201253.3(CRB1):c.70+2T>A rs1654723466
NM_201253.3(CRB1):c.71-10T>A rs2125303442
NM_201253.3(CRB1):c.71-12A>G rs12042179
NM_201253.3(CRB1):c.71-13T>A
NM_201253.3(CRB1):c.71-13dup rs772914182
NM_201253.3(CRB1):c.71-17T>A
NM_201253.3(CRB1):c.71-18C>T
NM_201253.3(CRB1):c.71-20T>C
NM_201253.3(CRB1):c.71-2A>G rs1383691293
NM_201253.3(CRB1):c.71-5del
NM_201253.3(CRB1):c.71-6T>C rs918243631
NM_201253.3(CRB1):c.71-6T>G
NM_201253.3(CRB1):c.71-7C>T rs1158168007
NM_201253.3(CRB1):c.71-9T>C rs571591819
NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)
NM_201253.3(CRB1):c.716G>T (p.Cys239Phe) rs771079655
NM_201253.3(CRB1):c.718C>T (p.Gln240Ter) rs2125328350
NM_201253.3(CRB1):c.71del (p.Asn24fs) rs1654722914
NM_201253.3(CRB1):c.733dup (p.Ala245fs) rs1659645978
NM_201253.3(CRB1):c.743del (p.Cys248fs)
NM_201253.3(CRB1):c.747C>T (p.Asp249=) rs1449307743
NM_201253.3(CRB1):c.753C>T (p.Ala251=) rs2125328418
NM_201253.3(CRB1):c.757G>A (p.Gly253Arg)
NM_201253.3(CRB1):c.768G>A (p.Gly256=)
NM_201253.3(CRB1):c.769G>T (p.Asp257Tyr) rs2125328452
NM_201253.3(CRB1):c.770dup (p.Asp257fs) rs2125328456
NM_201253.3(CRB1):c.774C>A (p.His258Gln) rs2125328459
NM_201253.3(CRB1):c.775T>C (p.Cys259Arg)
NM_201253.3(CRB1):c.786C>T (p.Asn262=)
NM_201253.3(CRB1):c.78T>C (p.Phe26=) rs2125303508
NM_201253.3(CRB1):c.795G>A (p.Glu265=) rs1659650734
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.798_799del (p.Ala267fs) rs2125328494
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) rs886043587
NM_201253.3(CRB1):c.805C>A (p.Gln269Lys)
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter) rs753224594
NM_201253.3(CRB1):c.809C>G (p.Pro270Arg) rs1659652337
NM_201253.3(CRB1):c.813T>C (p.Cys271=) rs564571183
NM_201253.3(CRB1):c.817C>T (p.His273Tyr)
NM_201253.3(CRB1):c.819T>C (p.His273=) rs2125328566
NM_201253.3(CRB1):c.823G>A (p.Gly275Arg)
NM_201253.3(CRB1):c.828G>T (p.Leu276=)
NM_201253.3(CRB1):c.830G>A (p.Cys277Tyr)
NM_201253.3(CRB1):c.833T>C (p.Val278Ala)
NM_201253.3(CRB1):c.834G>C (p.Val278=) rs780152729
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu) rs930465675
NM_201253.3(CRB1):c.848+12C>T
NM_201253.3(CRB1):c.848+13T>C
NM_201253.3(CRB1):c.848+16C>T
NM_201253.3(CRB1):c.848+17G>A
NM_201253.3(CRB1):c.848+17G>T
NM_201253.3(CRB1):c.848+1G>A rs2125328634
NM_201253.3(CRB1):c.848+20G>T
NM_201253.3(CRB1):c.848+4C>G rs1659656136
NM_201253.3(CRB1):c.848+9del rs1357084962
NM_201253.3(CRB1):c.848+9dup rs1357084962
NM_201253.3(CRB1):c.849-4C>T
NM_201253.3(CRB1):c.849-8C>T
NM_201253.3(CRB1):c.849-9A>G
NM_201253.3(CRB1):c.84T>C (p.Asn28=)
NM_201253.3(CRB1):c.852T>C (p.Tyr284=) rs1046799192
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg) rs1571877872
NM_201253.3(CRB1):c.866C>A (p.Thr289Lys)
NM_201253.3(CRB1):c.870T>C (p.Gly290=)
NM_201253.3(CRB1):c.872G>T (p.Ser291Ile) rs1374962600
NM_201253.3(CRB1):c.873T>C (p.Ser291=)
NM_201253.3(CRB1):c.875G>T (p.Gly292Val)
NM_201253.3(CRB1):c.888A>C (p.Thr296=)
NM_201253.3(CRB1):c.889C>T (p.His297Tyr)
NM_201253.3(CRB1):c.891C>T (p.His297=)
NM_201253.3(CRB1):c.894T>C (p.Cys298=) rs2125333261
NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del)
NM_201253.3(CRB1):c.901T>C (p.Leu301=) rs1456191997
NM_201253.3(CRB1):c.909T>C (p.Pro303=)
NM_201253.3(CRB1):c.926C>G (p.Pro309Arg)
NM_201253.3(CRB1):c.942T>A (p.Ala314=) rs2125333360
NM_201253.3(CRB1):c.948T>C (p.Cys316=)
NM_201253.3(CRB1):c.954C>T (p.Asp318=)
NM_201253.3(CRB1):c.955A>C (p.Ser319Arg)
NM_201253.3(CRB1):c.962_966del (p.Asp321fs) rs2125333406
NM_201253.3(CRB1):c.963C>T (p.Asp321=) rs1659843499
NM_201253.3(CRB1):c.964A>G (p.Asn322Asp) rs942572644
NM_201253.3(CRB1):c.969C>T (p.Tyr323=) rs1571878231
NM_201253.3(CRB1):c.96C>G (p.Thr32=)
NM_201253.3(CRB1):c.972T>G (p.Thr324=)
NM_201253.3(CRB1):c.975T>A (p.Cys325Ter)
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly) rs1452416023
NM_201253.3(CRB1):c.981C>T (p.Cys327=)
NM_201253.3(CRB1):c.982T>C (p.Trp328Arg)
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277
NM_201253.3(CRB1):c.986del (p.Pro329fs)
NM_201253.3(CRB1):c.987T>C (p.Pro329=) rs754038973
NM_201253.3(CRB1):c.988+13dup
NM_201253.3(CRB1):c.988+16C>T
NM_201253.3(CRB1):c.988+17C>T
NM_201253.3(CRB1):c.988+7G>A
NM_201253.3(CRB1):c.989-12T>G
NM_201253.3(CRB1):c.989-16A>T
NM_201253.3(CRB1):c.989-20T>C
NM_201253.3(CRB1):c.989-6A>G
NM_201253.3(CRB1):c.989-7C>T
NM_201253.3(CRB1):c.989-8T>A rs942052508
NM_201253.3(CRB1):c.989-9A>G rs141834896
NM_201253.3(CRB1):c.995_996del (p.Thr332fs) rs1660503192
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) rs587783015
NM_201253.3(CRB1):c.998G>C (p.Gly333Ala) rs587783015
NM_201253.3(CRB1):c.99G>A (p.Arg33=)
NM_201253.3(CRB1):c.9T>C (p.Leu3=)
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.