ClinVar Miner

List of variants reported as likely benign for retinal cell cancer by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 837
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1499-8A>T rs1555286676 0.00257
NM_000321.3(RB1):c.2212-15A>G rs372815788 0.00212
NM_000321.3(RB1):c.2212-6C>T rs776162179 0.00164
NM_000321.3(RB1):c.2212-12G>A rs776987458 0.00018
NM_000321.3(RB1):c.1888A>G (p.Thr630Ala) rs781691254 0.00011
NM_000321.3(RB1):c.264+20G>A rs200985890 0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.36C>T (p.Thr12=) rs779180897 0.00010
NM_000321.3(RB1):c.1862G>A (p.Arg621His) rs373601944 0.00009
NM_000321.3(RB1):c.862-20T>C rs1042945773 0.00009
NM_000321.3(RB1):c.959G>A (p.Arg320Gln) rs760787104 0.00009
NM_000321.3(RB1):c.2464C>G (p.Pro822Ala) rs368413787 0.00008
NM_000321.3(RB1):c.1764T>A (p.Ser588=) rs542783532 0.00006
NM_000321.3(RB1):c.1815-12A>G rs370482884 0.00006
NM_000321.3(RB1):c.285A>G (p.Lys95=) rs755688480 0.00006
NM_000321.3(RB1):c.446C>T (p.Ser149Leu) rs587778870 0.00006
NM_000321.3(RB1):c.138-20T>C rs376775524 0.00005
NM_000321.3(RB1):c.180A>G (p.Leu60=) rs878853948 0.00005
NM_000321.3(RB1):c.840A>G (p.Glu280=) rs762092062 0.00005
NM_000321.3(RB1):c.106G>A (p.Asp36Asn) rs745822791 0.00004
NM_000321.3(RB1):c.1335A>T (p.Arg445=) rs757748029 0.00004
NM_000321.3(RB1):c.1390-10T>C rs1323914179 0.00004
NM_000321.3(RB1):c.1696-13A>G rs759198467 0.00004
NM_000321.3(RB1):c.1814+11T>C rs771369373 0.00004
NM_000321.3(RB1):c.2211+15A>G rs376465035 0.00004
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys) rs529366765 0.00004
NM_000321.3(RB1):c.2490-1470G>A rs183939957 0.00004
NM_000321.3(RB1):c.2754T>C (p.Asp918=) rs878853951 0.00004
NM_000321.3(RB1):c.2759T>C (p.Met920Thr) rs148501460 0.00004
NM_000321.3(RB1):c.719-8T>C rs754589578 0.00004
NM_000321.3(RB1):c.1215C>T (p.Asn405=) rs758187955 0.00003
NM_000321.3(RB1):c.1216-4A>G rs763895695 0.00003
NM_000321.3(RB1):c.1814+3A>G rs376886420 0.00003
NM_000321.3(RB1):c.2344A>G (p.Ile782Val) rs1283644725 0.00003
NM_000321.3(RB1):c.2397T>G (p.Ile799Met) rs749392116 0.00003
NM_000321.3(RB1):c.2490-15A>C rs772625432 0.00003
NM_000321.3(RB1):c.2521-12T>C rs4151623 0.00003
NM_000321.3(RB1):c.2521-9A>C rs949077145 0.00003
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys) rs143105337 0.00003
NM_000321.3(RB1):c.2679A>G (p.Gly893=) rs751718011 0.00003
NM_000321.3(RB1):c.30C>G (p.Ala10=) rs530961288 0.00003
NM_000321.3(RB1):c.80C>G (p.Pro27Arg) rs925399787 0.00003
NM_000321.3(RB1):c.1049+20T>C rs756125607 0.00002
NM_000321.3(RB1):c.137+17G>A rs1293021818 0.00002
NM_000321.3(RB1):c.1464G>A (p.Ala488=) rs753520981 0.00002
NM_000321.3(RB1):c.1499-19T>A rs1224266949 0.00002
NM_000321.3(RB1):c.1989T>C (p.Asn663=) rs780654106 0.00002
NM_000321.3(RB1):c.2106+8A>G rs750581965 0.00002
NM_000321.3(RB1):c.2107-18C>T rs769658795 0.00002
NM_000321.3(RB1):c.2222G>A (p.Arg741His) rs764520289 0.00002
NM_000321.3(RB1):c.2370C>T (p.Tyr790=) rs794727372 0.00002
NM_000321.3(RB1):c.2491A>G (p.Ile831Val) rs761068783 0.00002
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786 0.00002
NM_000321.3(RB1):c.2521-20A>G rs778990487 0.00002
NM_000321.3(RB1):c.264+19C>T rs768676562 0.00002
NM_000321.3(RB1):c.2664-9A>C rs369154092 0.00002
NM_000321.3(RB1):c.2670T>C (p.His890=) rs758547395 0.00002
NM_000321.3(RB1):c.2714-7T>C rs751697681 0.00002
NM_000321.3(RB1):c.354T>A (p.Thr118=) rs951251256 0.00002
NM_000321.3(RB1):c.539+12A>G rs374509447 0.00002
NM_000321.3(RB1):c.608-7T>G rs746360576 0.00002
NM_000321.3(RB1):c.761G>A (p.Arg254Lys) rs200674097 0.00002
NM_000321.3(RB1):c.850A>G (p.Asn284Asp) rs761609284 0.00002
NM_000321.3(RB1):c.861+16G>T rs756590822 0.00002
NM_000321.3(RB1):c.939+13G>A rs754419372 0.00002
NM_000321.3(RB1):c.-149G>T rs1014776340 0.00001
NM_000321.3(RB1):c.1050-11T>C rs201410490 0.00001
NM_000321.3(RB1):c.1128-5del rs886038280 0.00001
NM_000321.3(RB1):c.1128-6C>T rs1566196389 0.00001
NM_000321.3(RB1):c.1198C>G (p.Leu400Val) rs535576919 0.00001
NM_000321.3(RB1):c.1215+12A>G rs145725575 0.00001
NM_000321.3(RB1):c.1215+17A>G rs1214049993 0.00001
NM_000321.3(RB1):c.1216-6C>T rs1453083586 0.00001
NM_000321.3(RB1):c.1216-7C>T rs563642809 0.00001
NM_000321.3(RB1):c.1243A>C (p.Ile415Leu) rs1346693507 0.00001
NM_000321.3(RB1):c.124C>T (p.Leu42=) rs1312883856 0.00001
NM_000321.3(RB1):c.1317C>T (p.Val439=) rs1952832303 0.00001
NM_000321.3(RB1):c.1323T>C (p.Ile441=) rs1952832419 0.00001
NM_000321.3(RB1):c.1332+11T>A rs769231663 0.00001
NM_000321.3(RB1):c.1332+14A>G rs775013695 0.00001
NM_000321.3(RB1):c.1333-16T>C rs1473909228 0.00001
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys) rs759079385 0.00001
NM_000321.3(RB1):c.137+12G>A rs574145040 0.00001
NM_000321.3(RB1):c.137+19C>T rs999325303 0.00001
NM_000321.3(RB1):c.138-4G>A rs1010049143 0.00001
NM_000321.3(RB1):c.1389+15A>G rs1211181689 0.00001
NM_000321.3(RB1):c.1389+18T>C rs768140640 0.00001
NM_000321.3(RB1):c.1399C>A (p.Arg467=) rs398123331 0.00001
NM_000321.3(RB1):c.1408A>C (p.Ile470Leu) rs139960834 0.00001
NM_000321.3(RB1):c.144G>A (p.Glu48=) rs1021965284 0.00001
NM_000321.3(RB1):c.1459T>C (p.Leu487=) rs1269949158 0.00001
NM_000321.3(RB1):c.1463C>T (p.Ala488Val) rs780248969 0.00001
NM_000321.3(RB1):c.1499-10T>C rs778605641 0.00001
NM_000321.3(RB1):c.1499-17T>C rs1948532675 0.00001
NM_000321.3(RB1):c.1499-8A>G rs1555286676 0.00001
NM_000321.3(RB1):c.1505C>T (p.Thr502Ile) rs752334972 0.00001
NM_000321.3(RB1):c.1542C>T (p.Phe514=) rs1436921535 0.00001
NM_000321.3(RB1):c.1545A>G (p.Pro515=) rs1486158291 0.00001
NM_000321.3(RB1):c.155C>T (p.Thr52Ile) rs780588550 0.00001
NM_000321.3(RB1):c.1648T>C (p.Leu550=) rs1280754489 0.00001
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln) rs146236493 0.00001
NM_000321.3(RB1):c.165T>A (p.Pro55=) rs775560197 0.00001
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln) rs773116120 0.00001
NM_000321.3(RB1):c.1696-4A>G rs143685082 0.00001
NM_000321.3(RB1):c.1696-7C>T rs180742027 0.00001
NM_000321.3(RB1):c.1755C>T (p.His585=) rs750305249 0.00001
NM_000321.3(RB1):c.177A>T (p.Ala59=) rs189574280 0.00001
NM_000321.3(RB1):c.1815-13T>C rs1285467120 0.00001
NM_000321.3(RB1):c.1860G>A (p.Thr620=) rs750356534 0.00001
NM_000321.3(RB1):c.1944A>G (p.Ser648=) rs762529301 0.00001
NM_000321.3(RB1):c.1961-7C>T rs371894780 0.00001
NM_000321.3(RB1):c.1992A>T (p.Thr664=) rs755417160 0.00001
NM_000321.3(RB1):c.2002C>T (p.Arg668Cys) rs369755801 0.00001
NM_000321.3(RB1):c.201A>C (p.Pro67=) rs1268550381 0.00001
NM_000321.3(RB1):c.2049T>C (p.Leu683=) rs1048847950 0.00001
NM_000321.3(RB1):c.2058C>T (p.His686=) rs748484148 0.00001
NM_000321.3(RB1):c.2076T>C (p.Tyr692=) rs1060504827 0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) rs3092903 0.00001
NM_000321.3(RB1):c.2107-12T>C rs1399272353 0.00001
NM_000321.3(RB1):c.2107-13A>C rs773509289 0.00001
NM_000321.3(RB1):c.2107-14A>G rs768316228 0.00001
NM_000321.3(RB1):c.2107-15C>A rs762781001 0.00001
NM_000321.3(RB1):c.2107-17A>T rs775406051 0.00001
NM_000321.3(RB1):c.2127T>C (p.Tyr709=) rs1484231598 0.00001
NM_000321.3(RB1):c.2175A>G (p.Val725=) rs1339244165 0.00001
NM_000321.3(RB1):c.2211+17A>G rs758845850 0.00001
NM_000321.3(RB1):c.2211+7A>G rs753912415 0.00001
NM_000321.3(RB1):c.2212-16_2212-15insTA rs778124313 0.00001
NM_000321.3(RB1):c.2259A>C (p.Ile753=) rs1387030828 0.00001
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser) rs1167280920 0.00001
NM_000321.3(RB1):c.2325+17C>T rs774913854 0.00001
NM_000321.3(RB1):c.2349T>A (p.Pro783=) rs753349760 0.00001
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00001
NM_000321.3(RB1):c.2394G>T (p.Arg798=) rs1178103435 0.00001
NM_000321.3(RB1):c.2436A>G (p.Pro812=) rs1276641790 0.00001
NM_000321.3(RB1):c.2489+7G>A rs752607904 0.00001
NM_000321.3(RB1):c.2490-4A>G rs372449026 0.00001
NM_000321.3(RB1):c.2517C>T (p.Phe839=) rs759188465 0.00001
NM_000321.3(RB1):c.2520+14T>G rs752189708 0.00001
NM_000321.3(RB1):c.2520+18A>G rs1403681311 0.00001
NM_000321.3(RB1):c.2521-18G>T rs748294918 0.00001
NM_000321.3(RB1):c.2559T>C (p.Cys853=) rs148327780 0.00001
NM_000321.3(RB1):c.2602C>A (p.Pro868Thr) rs1161450606 0.00001
NM_000321.3(RB1):c.2607T>G (p.Pro869=) rs762588468 0.00001
NM_000321.3(RB1):c.2614C>T (p.Leu872=) rs763673051 0.00001
NM_000321.3(RB1):c.2623C>T (p.Leu875=) rs1381671623 0.00001
NM_000321.3(RB1):c.2625A>G (p.Leu875=) rs774463152 0.00001
NM_000321.3(RB1):c.2634T>C (p.Asp878=) rs750293921 0.00001
NM_000321.3(RB1):c.2663+10A>G rs1179685157 0.00001
NM_000321.3(RB1):c.2663+18A>G rs781533642 0.00001
NM_000321.3(RB1):c.2663+8C>G rs747518543 0.00001
NM_000321.3(RB1):c.2713+17C>A rs746335500 0.00001
NM_000321.3(RB1):c.2714-10C>T rs1060504825 0.00001
NM_000321.3(RB1):c.2714-12T>A rs759312873 0.00001
NM_000321.3(RB1):c.2714-13A>G rs370213866 0.00001
NM_000321.3(RB1):c.2714-18T>C rs140331128 0.00001
NM_000321.3(RB1):c.2726C>A (p.Thr909Lys) rs761999108 0.00001
NM_000321.3(RB1):c.273T>C (p.Tyr91=) rs750136284 0.00001
NM_000321.3(RB1):c.2775G>A (p.Lys925=) rs936709957 0.00001
NM_000321.3(RB1):c.380+11T>C rs774892592 0.00001
NM_000321.3(RB1):c.380+15A>G rs1293468919 0.00001
NM_000321.3(RB1):c.380+20T>C rs767961998 0.00001
NM_000321.3(RB1):c.381-11T>C rs756363252 0.00001
NM_000321.3(RB1):c.399C>T (p.Asn133=) rs765277265 0.00001
NM_000321.3(RB1):c.501-19A>G rs1210034006 0.00001
NM_000321.3(RB1):c.549T>C (p.Thr183=) rs147793910 0.00001
NM_000321.3(RB1):c.608-11T>C rs1158572664 0.00001
NM_000321.3(RB1):c.608-13A>T rs751643356 0.00001
NM_000321.3(RB1):c.608-16T>A rs936403247 0.00001
NM_000321.3(RB1):c.608-17G>A rs1186097725 0.00001
NM_000321.3(RB1):c.608-9T>G rs781780669 0.00001
NM_000321.3(RB1):c.60C>T (p.Pro20=) rs777340111 0.00001
NM_000321.3(RB1):c.658C>T (p.Leu220=) rs367960214 0.00001
NM_000321.3(RB1):c.697A>G (p.Met233Val) rs770860809 0.00001
NM_000321.3(RB1):c.6G>T (p.Pro2=) rs1593411898 0.00001
NM_000321.3(RB1):c.718+7A>G rs774694773 0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) rs772678500 0.00001
NM_000321.3(RB1):c.783A>G (p.Ala261=) rs759311626 0.00001
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144 0.00001
NM_000321.3(RB1):c.78G>C (p.Pro26=) rs1389899415 0.00001
NM_000321.3(RB1):c.813A>G (p.Thr271=) rs1264516748 0.00001
NM_000321.3(RB1):c.852T>C (p.Asn284=) rs1952657073 0.00001
NM_000321.3(RB1):c.861+6T>C rs373380507 0.00001
NM_000321.3(RB1):c.862-8T>C rs745767704 0.00001
NM_000321.3(RB1):c.939+12G>A rs1214700401 0.00001
NM_000321.3(RB1):c.963C>T (p.Tyr321=) rs377235036 0.00001
NM_000321.3(RB1):c.965A>G (p.Glu322Gly) rs142620145 0.00001
NM_000321.3(RB1):c.999A>C (p.Ala333=) rs1254874409 0.00001
NM_000321.3(RB1):c.1005A>G (p.Leu335=)
NM_000321.3(RB1):c.1017T>C (p.His339=) rs1161993720
NM_000321.3(RB1):c.1035T>G (p.Thr345=) rs2138121485
NM_000321.3(RB1):c.1041T>A (p.Ser347=) rs1354204219
NM_000321.3(RB1):c.1049+11T>G
NM_000321.3(RB1):c.1049+15A>G
NM_000321.3(RB1):c.1049+18T>C rs2138121610
NM_000321.3(RB1):c.1049+7C>A rs1301800960
NM_000321.3(RB1):c.1049+8A>C
NM_000321.3(RB1):c.1049+8A>G
NM_000321.3(RB1):c.1050-15C>T rs776037881
NM_000321.3(RB1):c.1050-17C>T
NM_000321.3(RB1):c.1050-20C>G
NM_000321.3(RB1):c.1050-5T>C
NM_000321.3(RB1):c.1050-6A>T rs2138123102
NM_000321.3(RB1):c.1050-9G>A
NM_000321.3(RB1):c.1050-9_1050-7del rs2138123077
NM_000321.3(RB1):c.1063A>C (p.Arg355=)
NM_000321.3(RB1):c.1068A>T (p.Thr356=)
NM_000321.3(RB1):c.1083C>T (p.Asn361=) rs976503237
NM_000321.3(RB1):c.1086T>G (p.Leu362=) rs1212481028
NM_000321.3(RB1):c.108C>T (p.Asp36=) rs2138027862
NM_000321.3(RB1):c.1101T>C (p.Asn367=) rs2138123377
NM_000321.3(RB1):c.1104A>T (p.Val368=) rs2138123394
NM_000321.3(RB1):c.1110T>G (p.Pro370=) rs2138123414
NM_000321.3(RB1):c.1113A>G (p.Pro371=) rs2138123437
NM_000321.3(RB1):c.1119T>C (p.Thr373=) rs1593449062
NM_000321.3(RB1):c.111C>T (p.Ser37=) rs1411090163
NM_000321.3(RB1):c.1122A>G (p.Pro374=)
NM_000321.3(RB1):c.1127+12C>T
NM_000321.3(RB1):c.1127+16del rs2138123576
NM_000321.3(RB1):c.1127+17T>C rs1183838675
NM_000321.3(RB1):c.1127+18T>C
NM_000321.3(RB1):c.1127+20T>C
NM_000321.3(RB1):c.1127+7A>G rs1952727668
NM_000321.3(RB1):c.1128-11A>G
NM_000321.3(RB1):c.1128-15T>A
NM_000321.3(RB1):c.1128-17A>G
NM_000321.3(RB1):c.1128-18T>A
NM_000321.3(RB1):c.1128-18T>G
NM_000321.3(RB1):c.1128-19C>A
NM_000321.3(RB1):c.1128-19C>T rs2138130759
NM_000321.3(RB1):c.1128-4C>T rs2138130838
NM_000321.3(RB1):c.1128-5T>C rs2138130820
NM_000321.3(RB1):c.1128-7C>G
NM_000321.3(RB1):c.1128-8C>T
NM_000321.3(RB1):c.1128-9C>T rs1205440981
NM_000321.3(RB1):c.1131T>C (p.Thr377=) rs1414284893
NM_000321.3(RB1):c.1146C>A (p.Ile382=) rs2138130975
NM_000321.3(RB1):c.114C>T (p.Gly38=) rs1369823342
NM_000321.3(RB1):c.1152A>G (p.Gln384=)
NM_000321.3(RB1):c.1191A>G (p.Ser397=)
NM_000321.3(RB1):c.1198C>T (p.Leu400=) rs535576919
NM_000321.3(RB1):c.1206C>A (p.Ser402=) rs752679968
NM_000321.3(RB1):c.1206C>G (p.Ser402=) rs752679968
NM_000321.3(RB1):c.1215+15A>G rs1367804076
NM_000321.3(RB1):c.1215+16A>G
NM_000321.3(RB1):c.1215+25_1215+28del rs937437635
NM_000321.3(RB1):c.1215+7C>T rs1952785055
NM_000321.3(RB1):c.1215+8A>G rs2138131392
NM_000321.3(RB1):c.1215+9T>C rs2138131396
NM_000321.3(RB1):c.1216-10C>T rs1060504823
NM_000321.3(RB1):c.1216-11A>C rs986173926
NM_000321.3(RB1):c.1216-11A>G
NM_000321.3(RB1):c.1216-8T>C rs1218088810
NM_000321.3(RB1):c.1216-9C>A rs1593453956
NM_000321.3(RB1):c.1216-9C>G rs1593453956
NM_000321.3(RB1):c.1216-9C>T rs1593453956
NM_000321.3(RB1):c.1218C>T (p.Asn406=) rs1593453983
NM_000321.3(RB1):c.1221C>T (p.Cys407=) rs756329704
NM_000321.3(RB1):c.1224A>C (p.Thr408=) rs371805499
NM_000321.3(RB1):c.1224A>G (p.Thr408=) rs371805499
NM_000321.3(RB1):c.1233A>G (p.Pro411=) rs754078025
NM_000321.3(RB1):c.1239A>G (p.Glu413=) rs2138136281
NM_000321.3(RB1):c.1251A>G (p.Lys417=)
NM_000321.3(RB1):c.1272C>T (p.Tyr424=) rs2138136448
NM_000321.3(RB1):c.1284G>A (p.Glu428=) rs2138136532
NM_000321.3(RB1):c.1290T>C (p.Phe430=) rs1593454066
NM_000321.3(RB1):c.129T>A (p.Pro43=) rs1304775415
NM_000321.3(RB1):c.1308G>A (p.Gln436=) rs1191053171
NM_000321.3(RB1):c.1311T>C (p.Gly437=) rs759207520
NM_000321.3(RB1):c.1317C>A (p.Val439=) rs1952832303
NM_000321.3(RB1):c.1317C>G (p.Val439=) rs1952832303
NM_000321.3(RB1):c.132C>A (p.Leu44=)
NM_000321.3(RB1):c.132C>T (p.Leu44=)
NM_000321.3(RB1):c.1332+15T>C rs762809210
NM_000321.3(RB1):c.1332+8G>A
NM_000321.3(RB1):c.1333-11T>C
NM_000321.3(RB1):c.1333-13T>C rs2138140684
NM_000321.3(RB1):c.1333-15TTTG[2] rs1201326799
NM_000321.3(RB1):c.1333-17T>A
NM_000321.3(RB1):c.1333-18del
NM_000321.3(RB1):c.1333-18dup
NM_000321.3(RB1):c.1333-4G>C
NM_000321.3(RB1):c.1333-7T>C rs1948513668
NM_000321.3(RB1):c.1335A>G (p.Arg445=)
NM_000321.3(RB1):c.1347A>T (p.Gly449=)
NM_000321.3(RB1):c.1353C>T (p.Arg451=) rs912889209
NM_000321.3(RB1):c.1356G>A (p.Leu452=) rs201285819
NM_000321.3(RB1):c.135C>T (p.Val45=) rs1952055180
NM_000321.3(RB1):c.1365A>G (p.Arg455=) rs1316896547
NM_000321.3(RB1):c.1368A>C (p.Val456=)
NM_000321.3(RB1):c.137+11A>G rs2138028169
NM_000321.3(RB1):c.137+12G>C
NM_000321.3(RB1):c.137+13A>T rs762766187
NM_000321.3(RB1):c.137+14G>A
NM_000321.3(RB1):c.137+15C>A
NM_000321.3(RB1):c.137+15C>G
NM_000321.3(RB1):c.137+15C>T rs763972315
NM_000321.3(RB1):c.137+20G>A
NM_000321.3(RB1):c.137+6C>A rs1273298763
NM_000321.3(RB1):c.137+6C>T rs1273298763
NM_000321.3(RB1):c.137+7G>A
NM_000321.3(RB1):c.137+7G>T
NM_000321.3(RB1):c.138-10C>A
NM_000321.3(RB1):c.138-17T>C
NM_000321.3(RB1):c.138-19G>A
NM_000321.3(RB1):c.138-6T>C rs2138033764
NM_000321.3(RB1):c.138-8T>C rs201562657
NM_000321.3(RB1):c.138-9A>G
NM_000321.3(RB1):c.1383T>C (p.Leu461=)
NM_000321.3(RB1):c.1389+11A>C rs2138141097
NM_000321.3(RB1):c.1389+16T>C
NM_000321.3(RB1):c.1389+19A>T
NM_000321.3(RB1):c.1389+8A>G rs2138141087
NM_000321.3(RB1):c.1390-10T>A
NM_000321.3(RB1):c.1390-4T>A
NM_000321.3(RB1):c.1390-7G>C rs1257995008
NM_000321.3(RB1):c.1390-9C>G rs150700378
NM_000321.3(RB1):c.1390-9_1390-8del
NM_000321.3(RB1):c.1395A>G (p.Glu465=)
NM_000321.3(RB1):c.1402T>C (p.Leu468=) rs2138142257
NM_000321.3(RB1):c.1407C>T (p.Ser469=)
NM_000321.3(RB1):c.141T>G (p.Leu47=)
NM_000321.3(RB1):c.1421+11dup rs1222617235
NM_000321.3(RB1):c.1421+13_1421+18del
NM_000321.3(RB1):c.1421+3_1421+7dup rs2138142357
NM_000321.3(RB1):c.1421+7T>A
NM_000321.3(RB1):c.1421+7T>G rs2138142405
NM_000321.3(RB1):c.1422-10T>C rs2138142660
NM_000321.3(RB1):c.1422-4T>G rs201554179
NM_000321.3(RB1):c.1422-6del rs1706474256
NM_000321.3(RB1):c.1422-7C>T rs1419123438
NM_000321.3(RB1):c.1422-8_1422-7insAT
NM_000321.3(RB1):c.1422-9T>C
NM_000321.3(RB1):c.1425A>G (p.Lys475=)
NM_000321.3(RB1):c.1429C>T (p.Leu477=)
NM_000321.3(RB1):c.1434T>C (p.Asn478=) rs2138142781
NM_000321.3(RB1):c.1449T>C (p.His483=)
NM_000321.3(RB1):c.1455T>C (p.Ser485=)
NM_000321.3(RB1):c.1464G>T (p.Ala488=)
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.3(RB1):c.1470T>G (p.Ala490=) rs1213010309
NM_000321.3(RB1):c.1497C>T (p.Ser499=) rs1593456358
NM_000321.3(RB1):c.1498+10A>C rs2138143252
NM_000321.3(RB1):c.1498+7T>G rs1421075164
NM_000321.3(RB1):c.1498+9A>T rs2138143250
NM_000321.3(RB1):c.1499-11_1499-10del
NM_000321.3(RB1):c.1499-18T>A
NM_000321.3(RB1):c.1499-19T>C rs1224266949
NM_000321.3(RB1):c.1499-21_1499-19del
NM_000321.3(RB1):c.1499-6T>C
NM_000321.3(RB1):c.1499-7T>C rs1351161278
NM_000321.3(RB1):c.1499-9C>T rs201020747
NM_000321.3(RB1):c.1503T>C (p.Ser501=) rs2138144821
NM_000321.3(RB1):c.1518T>C (p.Leu506=)
NM_000321.3(RB1):c.1518T>G (p.Leu506=)
NM_000321.3(RB1):c.1527A>G (p.Gly509=) rs1948533245
NM_000321.3(RB1):c.1536G>A (p.Leu512=) rs879124999
NM_000321.3(RB1):c.1554G>C (p.Leu518=)
NM_000321.3(RB1):c.1563T>A (p.Leu521=)
NM_000321.3(RB1):c.156A>C (p.Thr52=) rs1593414358
NM_000321.3(RB1):c.156A>T (p.Thr52=)
NM_000321.3(RB1):c.1575C>G (p.Ala525=)
NM_000321.3(RB1):c.1584T>C (p.Phe528=) rs2138145241
NM_000321.3(RB1):c.1587C>T (p.Tyr529=) rs1948534023
NM_000321.3(RB1):c.1596C>A (p.Ile532=) rs770728170
NM_000321.3(RB1):c.159A>G (p.Glu53=)
NM_000321.3(RB1):c.15C>A (p.Thr5=) rs1593411934
NM_000321.3(RB1):c.15C>T (p.Thr5=)
NM_000321.3(RB1):c.1629A>T (p.Thr543=) rs1948534428
NM_000321.3(RB1):c.1650A>G (p.Leu550=)
NM_000321.3(RB1):c.1668A>C (p.Arg556=)
NM_000321.3(RB1):c.1683T>G (p.Leu561=)
NM_000321.3(RB1):c.1695+11A>G
NM_000321.3(RB1):c.1695+12A>G rs2138145893
NM_000321.3(RB1):c.1695+17T>A
NM_000321.3(RB1):c.1696-11G>A rs1949337308
NM_000321.3(RB1):c.1696-12T>C
NM_000321.3(RB1):c.1696-14_1696-12del
NM_000321.3(RB1):c.1696-6A>T rs1593529859
NM_000321.3(RB1):c.1696-7C>G
NM_000321.3(RB1):c.1696-8T>G rs2138326906
NM_000321.3(RB1):c.1704T>G (p.Pro568=) rs1555293625
NM_000321.3(RB1):c.1713T>C (p.Asp571=) rs1286122592
NM_000321.3(RB1):c.1719T>A (p.Ile573=) rs1593529908
NM_000321.3(RB1):c.1722A>G (p.Lys574=)
NM_000321.3(RB1):c.1731G>A (p.Lys577=) rs1949337837
NM_000321.3(RB1):c.1749T>G (p.Thr583=) rs913654931
NM_000321.3(RB1):c.1761A>G (p.Glu587=) rs2138327198
NM_000321.3(RB1):c.1766C>T (p.Ala589Val) rs779045727
NM_000321.3(RB1):c.1779T>C (p.Asn593=) rs2138327277
NM_000321.3(RB1):c.177A>G (p.Ala59=)
NM_000321.3(RB1):c.1782T>C (p.Leu594=) rs2138327293
NM_000321.3(RB1):c.1785T>A (p.Pro595=)
NM_000321.3(RB1):c.1785T>C (p.Pro595=) rs1194487890
NM_000321.3(RB1):c.1800C>T (p.His600=) rs1555293650
NM_000321.3(RB1):c.1809A>C (p.Ala603=)
NM_000321.3(RB1):c.1812T>C (p.Asp604=) rs2138327432
NM_000321.3(RB1):c.1814+10A>G rs2138327468
NM_000321.3(RB1):c.1814+14A>G
NM_000321.3(RB1):c.1814+15T>G rs1833054527
NM_000321.3(RB1):c.1814+20T>A
NM_000321.3(RB1):c.1814+7A>T rs1043922072
NM_000321.3(RB1):c.1815-16C>T rs2138330901
NM_000321.3(RB1):c.1815-17C>T
NM_000321.3(RB1):c.1815-20T>C
NM_000321.3(RB1):c.1815-4C>G
NM_000321.3(RB1):c.1815-4C>T rs1593531868
NM_000321.3(RB1):c.1815-8A>C
NM_000321.3(RB1):c.1815-8A>G rs1212283121
NM_000321.3(RB1):c.1815-9T>C
NM_000321.3(RB1):c.1830A>G (p.Val610=) rs1038764979
NM_000321.3(RB1):c.1836T>G (p.Ser612=) rs1949358828
NM_000321.3(RB1):c.1845A>G (p.Lys615=) rs2138331112
NM_000321.3(RB1):c.1848A>G (p.Lys616=)
NM_000321.3(RB1):c.1851T>C (p.Gly617=) rs2138331142
NM_000321.3(RB1):c.1872T>G (p.Ser624=) rs2138331230
NM_000321.3(RB1):c.1881T>C (p.Asn627=) rs2138331267
NM_000321.3(RB1):c.1890A>G (p.Thr630=) rs1593532014
NM_000321.3(RB1):c.1893A>G (p.Gln631=) rs746361171
NM_000321.3(RB1):c.18C>T (p.Pro6=) rs1017683562
NM_000321.3(RB1):c.1905C>T (p.Ala635=) rs1593532040
NM_000321.3(RB1):c.1908C>T (p.Phe636=) rs2138331404
NM_000321.3(RB1):c.190T>C (p.Leu64=)
NM_000321.3(RB1):c.1914C>A (p.Thr638=) rs770072166
NM_000321.3(RB1):c.1923A>C (p.Pro641=) rs1593532069
NM_000321.3(RB1):c.1924T>C (p.Leu642=) rs1949359922
NM_000321.3(RB1):c.1932T>C (p.Ser644=) rs2138331538
NM_000321.3(RB1):c.1935C>G (p.Thr645=)
NM_000321.3(RB1):c.1960+10T>A rs2138331743
NM_000321.3(RB1):c.1960+11G>T
NM_000321.3(RB1):c.1960+12A>G
NM_000321.3(RB1):c.1960+16_1960+21del
NM_000321.3(RB1):c.1960+20C>T
NM_000321.3(RB1):c.1960+8G>T rs2138331737
NM_000321.3(RB1):c.1960+9A>G rs1402321066
NM_000321.3(RB1):c.1961-11T>C
NM_000321.3(RB1):c.1961-15T>C rs746388709
NM_000321.3(RB1):c.1961-17T>G
NM_000321.3(RB1):c.1961-20A>G rs2138335709
NM_000321.3(RB1):c.1961-4A>C
NM_000321.3(RB1):c.1961-4A>G
NM_000321.3(RB1):c.1961-6C>A rs200501806
NM_000321.3(RB1):c.1961-9T>C rs2138335750
NM_000321.3(RB1):c.1962G>A (p.Val654=)
NM_000321.3(RB1):c.1962G>T (p.Val654=) rs2138335792
NM_000321.3(RB1):c.1968G>A (p.Arg656=)
NM_000321.3(RB1):c.1971A>G (p.Leu657=) rs2138335837
NM_000321.3(RB1):c.1977T>C (p.Tyr659=)
NM_000321.3(RB1):c.1980C>G (p.Leu660=) rs2138335898
NM_000321.3(RB1):c.1983G>C (p.Arg661=) rs2138335926
NM_000321.3(RB1):c.1992A>G (p.Thr664=) rs755417160
NM_000321.3(RB1):c.1995T>C (p.Leu665=) rs2138335982
NM_000321.3(RB1):c.19C>A (p.Arg7=) rs1952051704
NM_000321.3(RB1):c.2004C>T (p.Arg668=) rs566777900
NM_000321.3(RB1):c.2010G>A (p.Leu670=)
NM_000321.3(RB1):c.2010G>C (p.Leu670=)
NM_000321.3(RB1):c.2016G>A (p.Glu672=) rs1555294098
NM_000321.3(RB1):c.201A>G (p.Pro67=)
NM_000321.3(RB1):c.201A>T (p.Pro67=) rs1268550381
NM_000321.3(RB1):c.2040C>A (p.Ile680=) rs1593534695
NM_000321.3(RB1):c.2046C>G (p.Thr682=) rs994129583
NM_000321.3(RB1):c.2046C>T (p.Thr682=) rs994129583
NM_000321.3(RB1):c.2049T>G (p.Leu683=) rs1048847950
NM_000321.3(RB1):c.2052C>T (p.Phe684=)
NM_000321.3(RB1):c.2061C>T (p.Thr687=) rs113432974
NM_000321.3(RB1):c.2062C>T (p.Leu688=)
NM_000321.3(RB1):c.2064G>A (p.Leu688=) rs1593534733
NM_000321.3(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.3(RB1):c.2082C>T (p.Leu694=) rs762033186
NM_000321.3(RB1):c.2091C>T (p.Asp697=) rs3092903
NM_000321.3(RB1):c.2106+14G>A rs760861486
NM_000321.3(RB1):c.2106+14G>T
NM_000321.3(RB1):c.2106+15C>G
NM_000321.3(RB1):c.2106+16A>T
NM_000321.3(RB1):c.2106+18T>G
NM_000321.3(RB1):c.2106+19T>A rs2138336629
NM_000321.3(RB1):c.2106+19T>G
NM_000321.3(RB1):c.2106+3A>G rs1353683992
NM_000321.3(RB1):c.2106+8A>T rs750581965
NM_000321.3(RB1):c.2107-15C>T
NM_000321.3(RB1):c.2133A>T (p.Ile711=) rs2138342328
NM_000321.3(RB1):c.2145G>A (p.Lys715=) rs1555294515
NM_000321.3(RB1):c.2148T>C (p.Asn716=)
NM_000321.3(RB1):c.2154C>T (p.Asp718=) rs1949419727
NM_000321.3(RB1):c.2181A>C (p.Ala727=)
NM_000321.3(RB1):c.21A>G (p.Arg7=) rs2138027098
NM_000321.3(RB1):c.2211+13C>A
NM_000321.3(RB1):c.2211+16T>C rs530415853
NM_000321.3(RB1):c.2211+7A>T
NM_000321.3(RB1):c.2212-10T>C
NM_000321.3(RB1):c.2212-10T>G
NM_000321.3(RB1):c.2212-12G>C rs776987458
NM_000321.3(RB1):c.2212-14C>A
NM_000321.3(RB1):c.2212-16T>C
NM_000321.3(RB1):c.2212-17T>A
NM_000321.3(RB1):c.2212-8T>C rs1296127483
NM_000321.3(RB1):c.2212-8T>G rs1296127483
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000321.3(RB1):c.2212-9C>G rs765386327
NM_000321.3(RB1):c.2212-9C>T rs765386327
NM_000321.3(RB1):c.222T>G (p.Ala74=)
NM_000321.3(RB1):c.2235A>G (p.Lys745=) rs1949430328
NM_000321.3(RB1):c.2238A>G (p.Glu746=) rs991505835
NM_000321.3(RB1):c.2241G>A (p.Glu747=) rs750057315
NM_000321.3(RB1):c.2244G>A (p.Glu748=) rs1131690911
NM_000321.3(RB1):c.2253T>A (p.Ser751=)
NM_000321.3(RB1):c.2253T>C (p.Ser751=)
NM_000321.3(RB1):c.2268T>C (p.Tyr756=) rs2138344778
NM_000321.3(RB1):c.2271C>T (p.Asn757=)
NM_000321.3(RB1):c.2286G>A (p.Gln762=)
NM_000321.3(RB1):c.2310G>A (p.Gln770=) rs777040395
NM_000321.3(RB1):c.2319C>T (p.Ser773=) rs2138345040
NM_000321.3(RB1):c.231T>C (p.Thr77=) rs1277146164
NM_000321.3(RB1):c.2325+10A>G rs763525092
NM_000321.3(RB1):c.2325+19T>C
NM_000321.3(RB1):c.2325+20T>C
NM_000321.3(RB1):c.2326-10T>G rs2138345419
NM_000321.3(RB1):c.2326-14T>G
NM_000321.3(RB1):c.2326-17T>C
NM_000321.3(RB1):c.2326-4C>G rs1356053052
NM_000321.3(RB1):c.2326-4C>T
NM_000321.3(RB1):c.2326-7G>A
NM_000321.3(RB1):c.2326-8T>G rs2138345427
NM_000321.3(RB1):c.2328C>T (p.Pro776=)
NM_000321.3(RB1):c.2331T>C (p.Pro777=) rs2138345470
NM_000321.3(RB1):c.2334C>T (p.Thr778=) rs1593539365
NM_000321.3(RB1):c.2340A>G (p.Ser780=)
NM_000321.3(RB1):c.2343A>T (p.Pro781=)
NM_000321.3(RB1):c.2361A>C (p.Arg787=)
NM_000321.3(RB1):c.2382T>C (p.Ser794=) rs1470919585
NM_000321.3(RB1):c.2388C>T (p.Pro796=)
NM_000321.3(RB1):c.2391A>G (p.Leu797=)
NM_000321.3(RB1):c.2392C>A (p.Arg798=)
NM_000321.3(RB1):c.2397T>C (p.Ile799=) rs749392116
NM_000321.3(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2406G>C (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2409C>T (p.Asn803=) rs1379479714
NM_000321.3(RB1):c.2421A>G (p.Ser807=) rs2138345927
NM_000321.3(RB1):c.2424C>A (p.Pro808=)
NM_000321.3(RB1):c.2425C>T (p.Leu809=)
NM_000321.3(RB1):c.2427G>A (p.Leu809=) rs1279093123
NM_000321.3(RB1):c.2457G>A (p.Leu819=) rs1593539513
NM_000321.3(RB1):c.2460A>T (p.Pro820=) rs1555294628
NM_000321.3(RB1):c.246A>G (p.Ser82=) rs2138034514
NM_000321.3(RB1):c.2472A>G (p.Lys824=) rs2138346192
NM_000321.3(RB1):c.2481A>G (p.Pro827=) rs1949433968
NM_000321.3(RB1):c.2484A>G (p.Arg828=) rs1949433985
NM_000321.3(RB1):c.2489+14C>T
NM_000321.3(RB1):c.2489+16T>G
NM_000321.3(RB1):c.2489+18A>G
NM_000321.3(RB1):c.2489+20G>C
NM_000321.3(RB1):c.2490-10A>C rs2138354548
NM_000321.3(RB1):c.2490-15A>G
NM_000321.3(RB1):c.2490-47G>A
NM_000321.3(RB1):c.2490-47G>C
NM_000321.3(RB1):c.2490-59C>T
NM_000321.3(RB1):c.2490-5G>A rs1593544633
NM_000321.3(RB1):c.2490-65G>A
NM_000321.3(RB1):c.2490-86A>G
NM_000321.3(RB1):c.2493C>A (p.Ile831=)
NM_000321.3(RB1):c.2493C>T (p.Ile831=)
NM_000321.3(RB1):c.2499A>G (p.Val833=)
NM_000321.3(RB1):c.2502A>G (p.Ser834=)
NM_000321.3(RB1):c.2520+13T>G
NM_000321.3(RB1):c.2520+14_2520+17del rs1949484688
NM_000321.3(RB1):c.2520+15del rs2138354773
NM_000321.3(RB1):c.2521-13C>A
NM_000321.3(RB1):c.2521-16A>T
NM_000321.3(RB1):c.2521-4G>T rs902298592
NM_000321.3(RB1):c.2523T>C (p.Thr841=) rs1566240903
NM_000321.3(RB1):c.2535C>T (p.Phe845=)
NM_000321.3(RB1):c.2544A>T (p.Ile848=) rs2138358986
NM_000321.3(RB1):c.2565C>T (p.Ser855=) rs2138359118
NM_000321.3(RB1):c.2568C>T (p.Asp856=)
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys)
NM_000321.3(RB1):c.2571T>C (p.Arg857=)
NM_000321.3(RB1):c.2577C>T (p.Leu859=)
NM_000321.3(RB1):c.2583A>G (p.Arg861=)
NM_000321.3(RB1):c.2586T>C (p.Ser862=) rs1593547157
NM_000321.3(RB1):c.258A>C (p.Gly86=)
NM_000321.3(RB1):c.2604T>C (p.Pro868=)
NM_000321.3(RB1):c.2616G>A (p.Leu872=)
NM_000321.3(RB1):c.2628C>T (p.Arg876=) rs1593547215
NM_000321.3(RB1):c.264+11T>C
NM_000321.3(RB1):c.264+15A>C
NM_000321.3(RB1):c.264+20G>C
NM_000321.3(RB1):c.2640A>G (p.Glu880=)
NM_000321.3(RB1):c.2643A>C (p.Gly881=) rs1060504826
NM_000321.3(RB1):c.2646A>G (p.Ser882=)
NM_000321.3(RB1):c.265-10T>C
NM_000321.3(RB1):c.265-13T>A rs1331450918
NM_000321.3(RB1):c.265-14T>A
NM_000321.3(RB1):c.265-15A>G
NM_000321.3(RB1):c.265-19C>G
NM_000321.3(RB1):c.2652A>G (p.Glu884=) rs765537411
NM_000321.3(RB1):c.2655A>C (p.Ala885=)
NM_000321.3(RB1):c.2658T>C (p.Asp886=) rs1179137535
NM_000321.3(RB1):c.2661A>G (p.Gly887=) rs1593547275
NM_000321.3(RB1):c.2663+16G>A
NM_000321.3(RB1):c.2663+16G>T
NM_000321.3(RB1):c.2663+7A>G
NM_000321.3(RB1):c.2663+8C>A rs747518543
NM_000321.3(RB1):c.2663+8C>T
NM_000321.3(RB1):c.2663+9C>A rs2138359712
NM_000321.3(RB1):c.2663+9C>G
NM_000321.3(RB1):c.2664-18C>T
NM_000321.3(RB1):c.2664-20T>C
NM_000321.3(RB1):c.2685C>G (p.Ser895=) rs2138360868
NM_000321.3(RB1):c.2694G>A (p.Gln898=) rs757275103
NM_000321.3(RB1):c.2697G>A (p.Gln899=)
NM_000321.3(RB1):c.270T>C (p.Gly90=) rs1593434172
NM_000321.3(RB1):c.2712G>T (p.Met904Ile) rs1461167778
NM_000321.3(RB1):c.2713+12T>C
NM_000321.3(RB1):c.2713+16A>G
NM_000321.3(RB1):c.2713+16A>T rs1949510698
NM_000321.3(RB1):c.2713+17C>T
NM_000321.3(RB1):c.2713+18C>G
NM_000321.3(RB1):c.2713+18C>T rs1366862461
NM_000321.3(RB1):c.2713+20del rs1264547798
NM_000321.3(RB1):c.2713+7A>C rs1593547664
NM_000321.3(RB1):c.2713+9T>A rs2138361042
NM_000321.3(RB1):c.2713+9T>C rs2138361042
NM_000321.3(RB1):c.2714-14C>T
NM_000321.3(RB1):c.2714-20G>C rs914574679
NM_000321.3(RB1):c.2714-20G>T rs914574679
NM_000321.3(RB1):c.2714-4C>G rs768351559
NM_000321.3(RB1):c.2714-4C>T rs768351559
NM_000321.3(RB1):c.2714-5del rs2138364308
NM_000321.3(RB1):c.2714-7T>G rs751697681
NM_000321.3(RB1):c.2718T>C (p.Ser906=) rs2138364350
NM_000321.3(RB1):c.2722C>A (p.Arg908=)
NM_000321.3(RB1):c.2751T>C (p.Asn917=)
NM_000321.3(RB1):c.2757C>T (p.Ser919=) rs1060504824
NM_000321.3(RB1):c.2769A>G (p.Ser923=)
NM_000321.3(RB1):c.2772C>T (p.Asn924=) rs1949528716
NM_000321.3(RB1):c.279A>G (p.Gln93=) rs2138083552
NM_000321.3(RB1):c.291A>G (p.Glu97=) rs919345517
NM_000321.3(RB1):c.294G>A (p.Leu98=) rs2138083659
NM_000321.3(RB1):c.30C>T (p.Ala10=) rs530961288
NM_000321.3(RB1):c.321A>C (p.Ala107=) rs2138083810
NM_000321.3(RB1):c.321A>G (p.Ala107=)
NM_000321.3(RB1):c.336G>A (p.Glu112=)
NM_000321.3(RB1):c.33C>T (p.Ala11=) rs1593411999
NM_000321.3(RB1):c.348T>C (p.Thr116=)
NM_000321.3(RB1):c.34_42del (p.9TAA[1]) rs759465865
NM_000321.3(RB1):c.357G>A (p.Glu119=) rs1593434283
NM_000321.3(RB1):c.360A>G (p.Leu120=)
NM_000321.3(RB1):c.363G>A (p.Gln121=) rs777410222
NM_000321.3(RB1):c.375A>G (p.Glu125=)
NM_000321.3(RB1):c.380+12T>G rs3092881
NM_000321.3(RB1):c.380+13G>A
NM_000321.3(RB1):c.380+13G>C rs1266867448
NM_000321.3(RB1):c.380+14T>C
NM_000321.3(RB1):c.380+16T>C rs1420345590
NM_000321.3(RB1):c.380+17A>G rs2138084210
NM_000321.3(RB1):c.380+22_380+23del
NM_000321.3(RB1):c.381-12T>C
NM_000321.3(RB1):c.381-16A>C
NM_000321.3(RB1):c.381-4G>A
NM_000321.3(RB1):c.381-4G>T
NM_000321.3(RB1):c.387T>C (p.His129=)
NM_000321.3(RB1):c.396T>C (p.Phe132=) rs768768956
NM_000321.3(RB1):c.39C>T (p.Ala13=)
NM_000321.3(RB1):c.400T>C (p.Leu134=) rs2138087245
NM_000321.3(RB1):c.402A>G (p.Leu134=) rs1566186851
NM_000321.3(RB1):c.414T>A (p.Ile138=)
NM_000321.3(RB1):c.417T>C (p.Asp139=) rs1555283135
NM_000321.3(RB1):c.432T>C (p.Val144=) rs1593435736
NM_000321.3(RB1):c.438T>C (p.Asn146=)
NM_000321.3(RB1):c.450A>G (p.Arg150=)
NM_000321.3(RB1):c.451C>T (p.Leu151=)
NM_000321.3(RB1):c.452T>A (p.Leu151Gln) rs2138087581
NM_000321.3(RB1):c.45T>C (p.Ala15=)
NM_000321.3(RB1):c.474G>A (p.Leu158=) rs1319691084
NM_000321.3(RB1):c.480A>C (p.Ala160=)
NM_000321.3(RB1):c.480A>G (p.Ala160=) rs776484051
NM_000321.3(RB1):c.486C>T (p.Phe162=) rs2138087778
NM_000321.3(RB1):c.48C>T (p.Ala16=)
NM_000321.3(RB1):c.493T>C (p.Leu165=)
NM_000321.3(RB1):c.495G>A (p.Leu165=) rs2138087832
NM_000321.3(RB1):c.500+17A>G rs1483892858
NM_000321.3(RB1):c.500+8A>G
NM_000321.3(RB1):c.501-14G>A
NM_000321.3(RB1):c.501-15T>C rs2138091494
NM_000321.3(RB1):c.501-17A>T
NM_000321.3(RB1):c.501-17_501-15del rs755753209
NM_000321.3(RB1):c.501-18T>A rs2138091486
NM_000321.3(RB1):c.501-18T>C
NM_000321.3(RB1):c.501-20C>A rs2138091470
NM_000321.3(RB1):c.501-7T>A rs1031585875
NM_000321.3(RB1):c.501-7T>C
NM_000321.3(RB1):c.501-8C>A rs1952511460
NM_000321.3(RB1):c.501-9T>C rs1593437266
NM_000321.3(RB1):c.510A>G (p.Glu170=)
NM_000321.3(RB1):c.519T>C (p.Tyr173=)
NM_000321.3(RB1):c.528A>G (p.Gln176=) rs1952511922
NM_000321.3(RB1):c.539+11C>T
NM_000321.3(RB1):c.539+13C>G rs1408304236
NM_000321.3(RB1):c.539+13C>T rs1408304236
NM_000321.3(RB1):c.539+14A>G
NM_000321.3(RB1):c.539+15G>C
NM_000321.3(RB1):c.539+18T>C rs1368410297
NM_000321.3(RB1):c.539+9T>A
NM_000321.3(RB1):c.540-10T>G
NM_000321.3(RB1):c.540-13A>G
NM_000321.3(RB1):c.540-13A>T
NM_000321.3(RB1):c.540-15C>G
NM_000321.3(RB1):c.540-17_540-14del rs770994222
NM_000321.3(RB1):c.540-20G>C
NM_000321.3(RB1):c.540-20G>T
NM_000321.3(RB1):c.540-5A>C rs2138093401
NM_000321.3(RB1):c.540-6del rs1952522406
NM_000321.3(RB1):c.540-9G>A
NM_000321.3(RB1):c.540-9G>C rs1340503453
NM_000321.3(RB1):c.540-9G>T
NM_000321.3(RB1):c.552A>G (p.Glu184=)
NM_000321.3(RB1):c.564A>G (p.Ala188=) rs1952522861
NM_000321.3(RB1):c.565T>C (p.Leu189=) rs2138093547
NM_000321.3(RB1):c.570G>A (p.Val190=) rs775061547
NM_000321.3(RB1):c.57A>G (p.Glu19=)
NM_000321.3(RB1):c.607+12A>G
NM_000321.3(RB1):c.607+12_607+16del
NM_000321.3(RB1):c.607+13T>A rs750225169
NM_000321.3(RB1):c.607+17del
NM_000321.3(RB1):c.607+5G>A rs2138093817
NM_000321.3(RB1):c.607+8C>T rs1555283680
NM_000321.3(RB1):c.608-10T>C rs1039235140
NM_000321.3(RB1):c.608-11T>G
NM_000321.3(RB1):c.608-12T>C
NM_000321.3(RB1):c.608-13A>C rs751643356
NM_000321.3(RB1):c.608-13A>G
NM_000321.3(RB1):c.608-14C>T
NM_000321.3(RB1):c.608-19A>G
NM_000321.3(RB1):c.609G>A (p.Gly203=) rs2138107549
NM_000321.3(RB1):c.60C>A (p.Pro20=) rs777340111
NM_000321.3(RB1):c.60C>G (p.Pro20=) rs777340111
NM_000321.3(RB1):c.616T>C (p.Leu206=) rs886050270
NM_000321.3(RB1):c.618A>G (p.Leu206=) rs1593443486
NM_000321.3(RB1):c.621A>G (p.Gln207=)
NM_000321.3(RB1):c.62C>T (p.Pro21Leu) rs1444353743
NM_000321.3(RB1):c.630T>C (p.Asp210=) rs1952625286
NM_000321.3(RB1):c.634C>T (p.Leu212=) rs147085238
NM_000321.3(RB1):c.645A>G (p.Ser215=)
NM_000321.3(RB1):c.660A>G (p.Leu220=) rs886449283
NM_000321.3(RB1):c.663T>C (p.Cys221=)
NM_000321.3(RB1):c.666C>T (p.Val222=)
NM_000321.3(RB1):c.66A>C (p.Ala22=) rs1014225642
NM_000321.3(RB1):c.66A>G (p.Ala22=) rs1014225642
NM_000321.3(RB1):c.66_68del (p.Pro29del) rs1298675805
NM_000321.3(RB1):c.687C>G (p.Leu229=)
NM_000321.3(RB1):c.687C>T (p.Leu229=) rs2138107911
NM_000321.3(RB1):c.690A>T (p.Ser230=) rs2138107923
NM_000321.3(RB1):c.696C>T (p.Pro232=)
NM_000321.3(RB1):c.69G>A (p.Pro23=) rs746662122
NM_000321.3(RB1):c.69G>C (p.Pro23=) rs746662122
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del) rs587778823
NM_000321.3(RB1):c.6G>A (p.Pro2=) rs1593411898
NM_000321.3(RB1):c.702G>A (p.Leu234=) rs1479014864
NM_000321.3(RB1):c.718+10T>C
NM_000321.3(RB1):c.718+12A>C
NM_000321.3(RB1):c.718+14T>A rs1335503262
NM_000321.3(RB1):c.718+16A>G
NM_000321.3(RB1):c.718+18G>T rs2138108129
NM_000321.3(RB1):c.718+19C>A
NM_000321.3(RB1):c.718+20C>T
NM_000321.3(RB1):c.718+8_718+11del rs1593443613
NM_000321.3(RB1):c.719-10A>G rs2138112023
NM_000321.3(RB1):c.719-11C>T rs919154164
NM_000321.3(RB1):c.719-16T>C
NM_000321.3(RB1):c.720A>G (p.Lys240=) rs1555284919
NM_000321.3(RB1):c.723A>G (p.Thr241=)
NM_000321.3(RB1):c.72G>A (p.Pro24=)
NM_000321.3(RB1):c.72G>C (p.Pro24=) rs1333596916
NM_000321.3(RB1):c.735C>T (p.Pro245=) rs771620677
NM_000321.3(RB1):c.744T>C (p.Gly248=) rs1297277579
NM_000321.3(RB1):c.756A>G (p.Thr252=) rs1469535414
NM_000321.3(RB1):c.75G>A (p.Pro25=)
NM_000321.3(RB1):c.763C>A (p.Arg255=)
NM_000321.3(RB1):c.774C>T (p.Asn258=)
NM_000321.3(RB1):c.78G>T (p.Pro26=)
NM_000321.3(RB1):c.798A>G (p.Gln266=)
NM_000321.3(RB1):c.810T>C (p.Asp270=) rs1555284937
NM_000321.3(RB1):c.81C>A (p.Pro27=) rs1555279227
NM_000321.3(RB1):c.81C>G (p.Pro27=) rs1555279227
NM_000321.3(RB1):c.822T>C (p.Ile274=)
NM_000321.3(RB1):c.83C>T (p.Pro28Leu) rs776175164
NM_000321.3(RB1):c.843T>C (p.His281=)
NM_000321.3(RB1):c.849T>C (p.Cys283=) rs2138112820
NM_000321.3(RB1):c.861+13C>A
NM_000321.3(RB1):c.861+14A>G
NM_000321.3(RB1):c.861+15T>A
NM_000321.3(RB1):c.861+15T>C
NM_000321.3(RB1):c.861+16G>A rs756590822
NM_000321.3(RB1):c.861+17A>G
NM_000321.3(RB1):c.861+5T>G
NM_000321.3(RB1):c.861+828T>A
NM_000321.3(RB1):c.861+8A>T rs2138112923
NM_000321.3(RB1):c.861+9A>G rs2138112929
NM_000321.3(RB1):c.862-11A>G
NM_000321.3(RB1):c.862-12C>G rs2138116208
NM_000321.3(RB1):c.862-12C>T rs2138116208
NM_000321.3(RB1):c.862-14T>C rs2138116202
NM_000321.3(RB1):c.862-14T>G rs2138116202
NM_000321.3(RB1):c.862-18_862-17del
NM_000321.3(RB1):c.862-19G>C rs1321331035
NM_000321.3(RB1):c.862-19G>T rs1321331035
NM_000321.3(RB1):c.862-19del rs2138116175
NM_000321.3(RB1):c.862-4T>G
NM_000321.3(RB1):c.862-4del rs1555285114
NM_000321.3(RB1):c.862-9C>T rs2138116225
NM_000321.3(RB1):c.864G>A (p.Val288=)
NM_000321.3(RB1):c.873T>G (p.Val291=) rs2138116330
NM_000321.3(RB1):c.876T>C (p.Tyr292=) rs2138116341
NM_000321.3(RB1):c.879C>T (p.Phe293=) rs775381228
NM_000321.3(RB1):c.891A>C (p.Ile297=)
NM_000321.3(RB1):c.894T>G (p.Pro298=)
NM_000321.3(RB1):c.912A>G (p.Gly304=) rs1593446655
NM_000321.3(RB1):c.921A>G (p.Thr307=) rs1268911747
NM_000321.3(RB1):c.924T>G (p.Ser308=)
NM_000321.3(RB1):c.925A>G (p.Asn309Asp)
NM_000321.3(RB1):c.927T>C (p.Asn309=) rs2138116635
NM_000321.3(RB1):c.939+19del
NM_000321.3(RB1):c.939+8G>C
NM_000321.3(RB1):c.940-10_940-9del rs774207778
NM_000321.3(RB1):c.940-11T>G
NM_000321.3(RB1):c.940-13T>C rs2138120882
NM_000321.3(RB1):c.940-17G>A rs2138120867
NM_000321.3(RB1):c.940-20A>G rs2138120861
NM_000321.3(RB1):c.940-8C>A
NM_000321.3(RB1):c.948T>C (p.Asn316=) rs749023632
NM_000321.3(RB1):c.951T>G (p.Leu317=) rs2138120995
NM_000321.3(RB1):c.954T>C (p.Ser318=) rs2138121014
NM_000321.3(RB1):c.954T>G (p.Ser318=)
NM_000321.3(RB1):c.978T>G (p.Leu326=) rs2138121153
NM_000321.3(RB1):c.993A>G (p.Leu331=)
NM_000321.3(RB1):c.99A>G (p.Pro33=) rs1055176035
NM_000321.3(RB1):c.9C>T (p.Pro3=)

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