ClinVar Miner

List of variants in gene CRB1 reported as likely benign for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 761
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.484G>A (p.Val162Met) rs137853138 0.00106
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
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.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.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.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.3393T>C (p.Asn1131=) rs150559394 0.00017
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.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201253.3(CRB1):c.4071G>A (p.Leu1357=) rs765722225 0.00012
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315 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.2809G>A (p.Ala937Thr) rs114630940 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.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.156T>C (p.Asn52=) rs143046320 0.00006
NM_201253.3(CRB1):c.1746A>G (p.Leu582=) rs550119977 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.3228T>C (p.Asp1076=) rs780576185 0.00005
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=) rs753331276 0.00005
NM_201253.3(CRB1):c.447C>T (p.His149=) rs576678571 0.00005
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 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.1728G>A (p.Glu576=) rs529612010 0.00004
NM_201253.3(CRB1):c.2235G>A (p.Thr745=) rs753107217 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.3603A>T (p.Thr1201=) rs778669324 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.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.3318T>C (p.Tyr1106=) rs186077696 0.00003
NM_201253.3(CRB1):c.3702T>C (p.Asn1234=) rs747978870 0.00003
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.1452C>T (p.Thr484=) rs372844443 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.2118C>T (p.Asn706=) rs775275370 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.2901G>T (p.Gly967=) rs773815247 0.00002
NM_201253.3(CRB1):c.3276C>A (p.Gly1092=) rs550408313 0.00002
NM_201253.3(CRB1):c.3381A>G (p.Lys1127=) rs1327880181 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.4125T>C (p.Thr1375=) rs1459964782 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.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.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.1161T>G (p.Pro387=) rs746407080 0.00001
NM_201253.3(CRB1):c.1172-12A>G rs146175509 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.132A>G (p.Thr44=) rs754232939 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.1479C>T (p.Phe493=) rs770919155 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.1656A>T (p.Ser552=) rs774901506 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.1833C>T (p.Ser611=) rs1474792750 0.00001
NM_201253.3(CRB1):c.1837T>C (p.Leu613=) rs1664331544 0.00001
NM_201253.3(CRB1):c.1914G>A (p.Ser638=) rs780682072 0.00001
NM_201253.3(CRB1):c.1947T>C (p.Asp649=) rs370486884 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.2106T>C (p.Tyr702=) rs1381483469 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.2166T>C (p.Thr722=) rs1401615070 0.00001
NM_201253.3(CRB1):c.2172T>C (p.Tyr724=) rs752824817 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.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.2391T>C (p.Ser797=) rs749788926 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.2544C>T (p.Phe848=) rs760840456 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.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.2715G>A (p.Arg905=) rs534108312 0.00001
NM_201253.3(CRB1):c.2778G>A (p.Gln926=) rs775185174 0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757 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.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.3000T>C (p.Asn1000=) rs1477246106 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.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.3285G>C (p.Gly1095=) rs1030214290 0.00001
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=) rs374786358 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.3564T>C (p.His1188=) rs376271122 0.00001
NM_201253.3(CRB1):c.3609G>A (p.Glu1203=) rs1177792712 0.00001
NM_201253.3(CRB1):c.3624T>C (p.Gly1208=) rs760520811 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.3939G>A (p.Gln1313=) rs375597838 0.00001
NM_201253.3(CRB1):c.393T>C (p.Tyr131=) rs1324766724 0.00001
NM_201253.3(CRB1):c.4026C>T (p.Ser1342=) rs142057392 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.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.603C>T (p.Cys201=) rs763908215 0.00001
NM_201253.3(CRB1):c.627T>C (p.Thr209=) rs755611610 0.00001
NM_201253.3(CRB1):c.652+17C>G rs779288558 0.00001
NM_201253.3(CRB1):c.653-6T>A rs750059176 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.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.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.864C>T (p.Cys288=) rs1385265027 0.00001
NM_201253.3(CRB1):c.885G>C (p.Gly295=) rs542716912 0.00001
NM_201253.3(CRB1):c.957T>C (p.Ser319=) rs765228022 0.00001
NM_201253.3(CRB1):c.996A>G (p.Thr332=) rs1488355227 0.00001
NM_201253.3(CRB1):c.1002C>T (p.Ala334=)
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.102C>T (p.Cys34=) rs2125303585
NM_201253.3(CRB1):c.1038C>T (p.Asn346=) rs1320196113
NM_201253.3(CRB1):c.1071G>A (p.Leu357=)
NM_201253.3(CRB1):c.1074C>A (p.Ser358=)
NM_201253.3(CRB1):c.1080G>A (p.Glu360=)
NM_201253.3(CRB1):c.108A>G (p.Ser36=)
NM_201253.3(CRB1):c.1095C>T (p.Arg365=)
NM_201253.3(CRB1):c.1107G>A (p.Leu369=) rs774597915
NM_201253.3(CRB1):c.1122C>T (p.Ser374=) rs1571897069
NM_201253.3(CRB1):c.1128T>C (p.His376=) rs2125354691
NM_201253.3(CRB1):c.1137A>G (p.Ser379=)
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+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.1172-15T>C rs375141011
NM_201253.3(CRB1):c.1172-18T>G
NM_201253.3(CRB1):c.1172-7T>C
NM_201253.3(CRB1):c.1172-8T>C
NM_201253.3(CRB1):c.1185A>G (p.Glu395=) rs2125468817
NM_201253.3(CRB1):c.1194C>G (p.Val398=)
NM_201253.3(CRB1):c.1194C>T (p.Val398=) rs1211619415
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.1242C>T (p.Asn414=)
NM_201253.3(CRB1):c.1253A>G (p.Asn418Ser)
NM_201253.3(CRB1):c.1263C>T (p.Cys421=)
NM_201253.3(CRB1):c.1266T>C (p.His422=)
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.1317T>C (p.Ser439=)
NM_201253.3(CRB1):c.1326C>T (p.Leu442=)
NM_201253.3(CRB1):c.1356T>C (p.Asn452=)
NM_201253.3(CRB1):c.1362A>G (p.Gly454=) rs2125469375
NM_201253.3(CRB1):c.1380C>T (p.Phe460=)
NM_201253.3(CRB1):c.1389C>G (p.Gly463=)
NM_201253.3(CRB1):c.1408C>T (p.Leu470=)
NM_201253.3(CRB1):c.1416A>G (p.Pro472=)
NM_201253.3(CRB1):c.1425C>T (p.Tyr475=) rs2125469515
NM_201253.3(CRB1):c.1428C>G (p.Thr476=) rs62636282
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.1447G>A (p.Ala483Thr)
NM_201253.3(CRB1):c.144T>C (p.Phe48=) rs2125303703
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.1539G>A (p.Arg513=) rs1571523693
NM_201253.3(CRB1):c.153C>T (p.Asp51=)
NM_201253.3(CRB1):c.1557A>G (p.Pro519=)
NM_201253.3(CRB1):c.1572T>C (p.Leu524=) rs1571523807
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.1617T>C (p.Ser539=)
NM_201253.3(CRB1):c.1623C>T (p.Tyr541=)
NM_201253.3(CRB1):c.162T>C (p.Cys54=) rs1426861310
NM_201253.3(CRB1):c.1659G>A (p.Lys553=) rs748644955
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.1686C>A (p.Thr562=)
NM_201253.3(CRB1):c.1689C>T (p.Ser563=)
NM_201253.3(CRB1):c.1692T>C (p.Asp564=)
NM_201253.3(CRB1):c.1707C>T (p.Phe569=) rs201885772
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.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.1740T>C (p.Leu580=) rs2125470719
NM_201253.3(CRB1):c.1743C>A (p.Thr581=)
NM_201253.3(CRB1):c.1749C>A (p.Ile583=)
NM_201253.3(CRB1):c.174C>T (p.Asp58=)
NM_201253.3(CRB1):c.1767G>A (p.Glu589=) rs142458114
NM_201253.3(CRB1):c.1770A>G (p.Lys590=) rs1350306887
NM_201253.3(CRB1):c.1779G>A (p.Ala593=)
NM_201253.3(CRB1):c.1779G>T (p.Ala593=) rs778428918
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.1812A>G (p.Ser604=) rs2125471031
NM_201253.3(CRB1):c.1824T>C (p.Phe608=) rs2125471055
NM_201253.3(CRB1):c.183T>C (p.Asn61=) rs1338529935
NM_201253.3(CRB1):c.1854G>A (p.Val618=)
NM_201253.3(CRB1):c.1863C>T (p.Thr621=) rs1160778866
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>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.1902A>G (p.Pro634=)
NM_201253.3(CRB1):c.1908A>G (p.Thr636=)
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.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.1944T>C (p.Ile648=) rs978090242
NM_201253.3(CRB1):c.1962C>A (p.Thr654=)
NM_201253.3(CRB1):c.1971C>T (p.Asn657=)
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.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.2037A>G (p.Gln679=)
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.2097C>T (p.His699=)
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.2129-20C>T
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.2130G>A (p.Glu710=)
NM_201253.3(CRB1):c.2133T>C (p.Tyr711=)
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.2142C>A (p.Gly714=)
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.2190T>C (p.Asp730=)
NM_201253.3(CRB1):c.2205C>T (p.Asp735=)
NM_201253.3(CRB1):c.2208C>T (p.Thr736=) rs1265675307
NM_201253.3(CRB1):c.2226T>C (p.Phe742=) rs1664649939
NM_201253.3(CRB1):c.2257C>T (p.Leu753=) rs2125483948
NM_201253.3(CRB1):c.2259A>G (p.Leu753=) rs2125483955
NM_201253.3(CRB1):c.2268A>G (p.Glu756=) rs1240250876
NM_201253.3(CRB1):c.2274C>T (p.Ser758=)
NM_201253.3(CRB1):c.2277T>C (p.Thr759=) rs2125484014
NM_201253.3(CRB1):c.2280T>C (p.Tyr760=)
NM_201253.3(CRB1):c.228C>T (p.Ser76=)
NM_201253.3(CRB1):c.2301A>G (p.Leu767=) rs2125484113
NM_201253.3(CRB1):c.2307C>G (p.Arg769=)
NM_201253.3(CRB1):c.2316A>G (p.Leu772=) rs964544440
NM_201253.3(CRB1):c.2328T>C (p.Thr776=)
NM_201253.3(CRB1):c.2334C>T (p.Asn778=) rs765210114
NM_201253.3(CRB1):c.2340C>T (p.Pro780=) rs2125484301
NM_201253.3(CRB1):c.2343A>G (p.Lys781=)
NM_201253.3(CRB1):c.2346A>G (p.Leu782=)
NM_201253.3(CRB1):c.234C>G (p.Pro78=) rs1216212132
NM_201253.3(CRB1):c.2358T>C (p.Phe786=) rs1371610654
NM_201253.3(CRB1):c.2379C>T (p.Val793=) rs2125484466
NM_201253.3(CRB1):c.2382C>T (p.His794=)
NM_201253.3(CRB1):c.2383T>C (p.Leu795=)
NM_201253.3(CRB1):c.2406A>C (p.Pro802=) rs141103073
NM_201253.3(CRB1):c.2406A>G (p.Pro802=)
NM_201253.3(CRB1):c.2421G>C (p.Leu807=) rs2125484620
NM_201253.3(CRB1):c.2433A>G (p.Ser811=) rs2125484661
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.2487C>T (p.Val829=)
NM_201253.3(CRB1):c.2493C>T (p.Tyr831=) rs2125484854
NM_201253.3(CRB1):c.249C>T (p.Ala83=)
NM_201253.3(CRB1):c.24C>T (p.Tyr8=) rs1044326530
NM_201253.3(CRB1):c.2505A>G (p.Leu835=)
NM_201253.3(CRB1):c.2517A>G (p.Gln839=)
NM_201253.3(CRB1):c.2541C>T (p.Phe847=) rs1664675234
NM_201253.3(CRB1):c.2553T>C (p.Cys851=)
NM_201253.3(CRB1):c.2565A>G (p.Val855=)
NM_201253.3(CRB1):c.2569C>T (p.Leu857=) rs1571540576
NM_201253.3(CRB1):c.2574C>T (p.Asn858=) rs2125485154
NM_201253.3(CRB1):c.2583T>C (p.Asn861=) rs2125485214
NM_201253.3(CRB1):c.2598A>G (p.Pro866=) rs1336253157
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.2643A>G (p.Val881=) rs1434264303
NM_201253.3(CRB1):c.2646C>G (p.Thr882=) rs2125485474
NM_201253.3(CRB1):c.264C>A (p.Thr88=) rs2125303935
NM_201253.3(CRB1):c.264C>T (p.Thr88=)
NM_201253.3(CRB1):c.2655T>C (p.Cys885=)
NM_201253.3(CRB1):c.2667C>T (p.Asn889=)
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+7A>T rs774387451
NM_201253.3(CRB1):c.2677-20T>C
NM_201253.3(CRB1):c.2677-446T>C
NM_201253.3(CRB1):c.2682C>T (p.Asn894=)
NM_201253.3(CRB1):c.2688T>C (p.Cys896=)
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.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.275_276insT (p.Arg92fs) rs1571848132
NM_201253.3(CRB1):c.2763C>G (p.Ala921=) rs2125489012
NM_201253.3(CRB1):c.2769G>A (p.Glu923=)
NM_201253.3(CRB1):c.2772G>A (p.Glu924=) rs1664772199
NM_201253.3(CRB1):c.2775T>G (p.Val925=)
NM_201253.3(CRB1):c.2796G>C (p.Pro932=)
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>T (p.His935=)
NM_201253.3(CRB1):c.2811C>A (p.Ala937=)
NM_201253.3(CRB1):c.2814G>A (p.Gln938=)
NM_201253.3(CRB1):c.2826G>A (p.Val942=) rs781176401
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+7A>G rs2125489345
NM_201253.3(CRB1):c.2842+8G>T
NM_201253.3(CRB1):c.2842+9A>T
NM_201253.3(CRB1):c.2843-15A>G
NM_201253.3(CRB1):c.2843-3dup rs776525385
NM_201253.3(CRB1):c.2843-4T>A
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.2862T>C (p.Phe954=)
NM_201253.3(CRB1):c.2865T>C (p.Asn955=) rs2125498741
NM_201253.3(CRB1):c.2868A>G (p.Gly956=) rs1359395833
NM_201253.3(CRB1):c.2877T>A (p.Gly959=)
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) rs1571848190
NM_201253.3(CRB1):c.288C>T (p.Cys96=)
NM_201253.3(CRB1):c.2898T>C (p.Asn966=) rs2125498858
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) rs1571848216
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.2907T>C (p.Ile969=)
NM_201253.3(CRB1):c.2922C>G (p.Thr974=)
NM_201253.3(CRB1):c.2949G>A (p.Arg983=) rs2125499002
NM_201253.3(CRB1):c.2958T>C (p.Asn986=)
NM_201253.3(CRB1):c.2961A>G (p.Val987=)
NM_201253.3(CRB1):c.2967A>T (p.Ile989=)
NM_201253.3(CRB1):c.303G>C (p.Gly101=)
NM_201253.3(CRB1):c.3048C>T (p.Asn1016=) rs2125499296
NM_201253.3(CRB1):c.3051C>T (p.Ser1017=)
NM_201253.3(CRB1):c.3054T>C (p.Phe1018=) rs963461440
NM_201253.3(CRB1):c.3069G>A (p.Leu1023=)
NM_201253.3(CRB1):c.3075T>C (p.Ser1025=)
NM_201253.3(CRB1):c.3093T>C (p.Asp1031=)
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.3108A>G (p.Glu1036=) rs2125499489
NM_201253.3(CRB1):c.3111G>C (p.Val1037=)
NM_201253.3(CRB1):c.3120C>T (p.Ser1040=) rs1571556490
NM_201253.3(CRB1):c.312G>A (p.Gly104=) rs2125304069
NM_201253.3(CRB1):c.3144C>T (p.Thr1048=) rs2125499576
NM_201253.3(CRB1):c.3147C>T (p.Ser1049=)
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.3204T>C (p.Thr1068=)
NM_201253.3(CRB1):c.3213C>T (p.Leu1071=) rs2125499764
NM_201253.3(CRB1):c.3225G>A (p.Lys1075=)
NM_201253.3(CRB1):c.3231T>C (p.Asn1077=) rs2125499828
NM_201253.3(CRB1):c.3243T>C (p.Tyr1081=) rs1665078340
NM_201253.3(CRB1):c.3255A>G (p.Arg1085=)
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.3277C>T (p.Leu1093=) rs1051901493
NM_201253.3(CRB1):c.3279G>A (p.Leu1093=)
NM_201253.3(CRB1):c.3282A>G (p.Gln1094=) 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.3297A>G (p.Thr1099=) rs2125500012
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.3327C>T (p.Tyr1109=)
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.3384C>A (p.Ile1128=) rs2125500314
NM_201253.3(CRB1):c.3387T>G (p.Ser1129=)
NM_201253.3(CRB1):c.3396A>T (p.Ser1132=) rs1209147052
NM_201253.3(CRB1):c.339C>T (p.Ser113=) rs1220315666
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.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.3445T>C (p.Leu1149=) rs2125500500
NM_201253.3(CRB1):c.345C>G (p.Gly115=)
NM_201253.3(CRB1):c.3477C>T (p.Ser1159=) rs2125500600
NM_201253.3(CRB1):c.3489C>T (p.Cys1163=)
NM_201253.3(CRB1):c.3510A>G (p.Ser1170=) rs1665100853
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.354C>T (p.Ser118=)
NM_201253.3(CRB1):c.3561C>T (p.Ile1187=)
NM_201253.3(CRB1):c.3585T>C (p.Val1195=) rs1007859886
NM_201253.3(CRB1):c.3603A>G (p.Thr1201=)
NM_201253.3(CRB1):c.360A>G (p.Gln120=) rs1658671916
NM_201253.3(CRB1):c.3621T>C (p.Thr1207=)
NM_201253.3(CRB1):c.3636A>G (p.Glu1212=) rs2125500988
NM_201253.3(CRB1):c.3663C>T (p.His1221=) rs1250767401
NM_201253.3(CRB1):c.3666G>A (p.Gln1222=)
NM_201253.3(CRB1):c.3681C>A (p.Ala1227=)
NM_201253.3(CRB1):c.3684C>T (p.Thr1228=)
NM_201253.3(CRB1):c.3687C>T (p.Cys1229=)
NM_201253.3(CRB1):c.3699T>C (p.Thr1233=)
NM_201253.3(CRB1):c.3717C>T (p.Leu1239=) rs370095562
NM_201253.3(CRB1):c.3729T>C (p.Asn1243=)
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+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.3777T>C (p.Cys1259=)
NM_201253.3(CRB1):c.3783T>C (p.Asn1261=)
NM_201253.3(CRB1):c.3795T>C (p.Asn1265=) rs2125506234
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.3825A>G (p.Thr1275=)
NM_201253.3(CRB1):c.3846A>G (p.Lys1282=)
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+7C>T
NM_201253.3(CRB1):c.3878+9C>T rs1571564812
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.387T>C (p.Pro129=)
NM_201253.3(CRB1):c.3891C>T (p.Asp1297=)
NM_201253.3(CRB1):c.3909T>C (p.Ser1303=) rs2125513623
NM_201253.3(CRB1):c.3915G>C (p.Pro1305=) rs541488801
NM_201253.3(CRB1):c.3921C>G (p.Val1307=) rs1223786607
NM_201253.3(CRB1):c.3933G>A (p.Leu1311=) rs372846698
NM_201253.3(CRB1):c.3936C>T (p.Cys1312=)
NM_201253.3(CRB1):c.3954A>G (p.Lys1318=) rs1267070832
NM_201253.3(CRB1):c.396T>C (p.Pro132=)
NM_201253.3(CRB1):c.3972T>C (p.Asp1324=)
NM_201253.3(CRB1):c.3990G>A (p.Glu1330=)
NM_201253.3(CRB1):c.3996C>T (p.Cys1332=)
NM_201253.3(CRB1):c.399C>G (p.Val133=)
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.4006-11A>G
NM_201253.3(CRB1):c.4006-17G>T
NM_201253.3(CRB1):c.4006-19A>G
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.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.4068A>G (p.Leu1356=) rs2125573927
NM_201253.3(CRB1):c.4077C>T (p.Leu1359=)
NM_201253.3(CRB1):c.4086C>T (p.Ala1362=) rs2125573975
NM_201253.3(CRB1):c.408C>T (p.Cys136=)
NM_201253.3(CRB1):c.4101T>C (p.Val1367=)
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.4125T>G (p.Thr1375=)
NM_201253.3(CRB1):c.4131A>G (p.Gly1377=)
NM_201253.3(CRB1):c.4137C>T (p.Tyr1379=) rs1206810310
NM_201253.3(CRB1):c.4140C>T (p.Ser1380=)
NM_201253.3(CRB1):c.414T>C (p.Ala138=) rs1658677371
NM_201253.3(CRB1):c.4161G>A (p.Glu1387=)
NM_201253.3(CRB1):c.4164C>T (p.Gly1388=)
NM_201253.3(CRB1):c.4167C>A (p.Ser1389=)
NM_201253.3(CRB1):c.4167C>T (p.Ser1389=)
NM_201253.3(CRB1):c.4197C>T (p.Pro1399=) rs2125574291
NM_201253.3(CRB1):c.4209G>A (p.Glu1403=) rs1490587812
NM_201253.3(CRB1):c.423T>A (p.Ala141=)
NM_201253.3(CRB1):c.42C>G (p.Leu14=) rs2125193970
NM_201253.3(CRB1):c.438G>A (p.Glu146=)
NM_201253.3(CRB1):c.450T>C (p.Asp150=) rs756735925
NM_201253.3(CRB1):c.465C>T (p.Ser155=)
NM_201253.3(CRB1):c.477T>C (p.Asn159=)
NM_201253.3(CRB1):c.480G>A (p.Gly160=)
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.495T>C (p.Asp165=)
NM_201253.3(CRB1):c.504T>C (p.Asp168=) rs765280046
NM_201253.3(CRB1):c.510C>T (p.Tyr170=) rs1658687526
NM_201253.3(CRB1):c.519C>T (p.Phe173=) rs540720099
NM_201253.3(CRB1):c.522T>C (p.Cys174=) rs1658688864
NM_201253.3(CRB1):c.543A>G (p.Arg181=) rs1405034397
NM_201253.3(CRB1):c.552C>T (p.Asp184=) rs2125304660
NM_201253.3(CRB1):c.579T>C (p.Asp193=) rs1382054822
NM_201253.3(CRB1):c.582C>G (p.Pro194=)
NM_201253.3(CRB1):c.609T>C (p.Asn203=) rs1558057563
NM_201253.3(CRB1):c.60C>T (p.Ile20=)
NM_201253.3(CRB1):c.624T>C (p.Tyr208=) rs1658697788
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+20A>G
NM_201253.3(CRB1):c.653-10T>G rs1306679553
NM_201253.3(CRB1):c.653-11T>G
NM_201253.3(CRB1):c.653-5A>G
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.667T>C (p.Leu223=)
NM_201253.3(CRB1):c.66A>T (p.Ile22=) rs2125194017
NM_201253.3(CRB1):c.675T>C (p.Ile225=)
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+20G>A
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.71-17T>A
NM_201253.3(CRB1):c.71-18C>T
NM_201253.3(CRB1):c.71-20T>C
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.747C>T (p.Asp249=) rs1449307743
NM_201253.3(CRB1):c.753C>T (p.Ala251=) rs2125328418
NM_201253.3(CRB1):c.768G>A (p.Gly256=)
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.813T>C (p.Cys271=) rs564571183
NM_201253.3(CRB1):c.819T>C (p.His273=) rs2125328566
NM_201253.3(CRB1):c.828G>T (p.Leu276=)
NM_201253.3(CRB1):c.834G>C (p.Val278=) rs780152729
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+20G>T
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.870T>C (p.Gly290=)
NM_201253.3(CRB1):c.873T>C (p.Ser291=)
NM_201253.3(CRB1):c.888A>C (p.Thr296=)
NM_201253.3(CRB1):c.891C>T (p.His297=)
NM_201253.3(CRB1):c.894T>C (p.Cys298=) rs2125333261
NM_201253.3(CRB1):c.901T>C (p.Leu301=) rs1456191997
NM_201253.3(CRB1):c.909T>C (p.Pro303=)
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.963C>T (p.Asp321=) rs1659843499
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.981C>T (p.Cys327=)
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.99G>A (p.Arg33=)
NM_201253.3(CRB1):c.9T>C (p.Leu3=)

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