NM_000321.3(RB1):c.500+23T>G
|
rs198617
|
0.93273
|
NM_000321.3(RB1):c.501-77A>G
|
rs198616
|
0.92110
|
NM_000321.3(RB1):c.1499-182T>A
|
rs2804085
|
0.91988
|
NM_000321.3(RB1):c.1695+97T>A
|
rs2804086
|
0.91986
|
NM_000321.3(RB1):c.2106+185A>G
|
rs198581
|
0.91031
|
NM_000321.3(RB1):c.2663+33C>T
|
rs3020646
|
0.90292
|
NM_000321.3(RB1):c.2713+308G>A
|
rs2984828
|
0.90273
|
NM_000321.3(RB1):c.2106+136C>T
|
rs9562824
|
0.89112
|
NM_000321.3(RB1):c.1961-77G>A
|
rs198580
|
0.88350
|
NM_000321.3(RB1):c.1696-277C>T
|
rs198574
|
0.77217
|
NM_000321.3(RB1):c.718+312A>T
|
rs198619
|
0.55756
|
NM_000321.3(RB1):c.137+107G>A
|
rs2252544
|
0.55039
|
NM_000321.3(RB1):c.2106+142del
|
rs377255892
|
0.26073
|
NM_000321.3(RB1):c.380+45C>T
|
rs520342
|
0.21231
|
NM_000321.3(RB1):c.2106+139T>C
|
rs368843896
|
0.20964
|
NM_000321.3(RB1):c.2664-10T>A
|
rs3092904
|
0.19833
|
NM_000321.3(RB1):c.381-152A>G
|
rs3092899
|
0.11650
|
NM_000321.3(RB1):c.608-3182C>T
|
rs9535021
|
0.10366
|
NM_000321.3(RB1):c.1127+74C>T
|
rs3092888
|
0.07482
|
NM_000321.3(RB1):c.264+75T>C
|
rs3092865
|
0.05520
|
NM_000321.3(RB1):c.1216-230G>T
|
rs4151532
|
0.05238
|
NM_000321.3(RB1):c.2106+146del
|
rs370147449
|
0.05175
|
NM_000321.3(RB1):c.1390-14A>T
|
rs9535023
|
0.04866
|
NM_000321.3(RB1):c.1049+270G>A
|
rs4151502
|
0.03590
|
NM_000321.3(RB1):c.540-162T>C
|
rs74075978
|
0.03583
|
NM_000321.3(RB1):c.608-3377C>T
|
rs113995265
|
0.03314
|
NM_000321.3(RB1):c.608-3569T>C
|
rs77089731
|
0.03313
|
NM_000321.3(RB1):c.500+305G>T
|
rs4151460
|
0.03256
|
NM_000321.3(RB1):c.264+283T>C
|
rs4151429
|
0.03246
|
NM_000321.3(RB1):c.861+505C>G
|
rs4151487
|
0.03244
|
NM_000321.3(RB1):c.1215+220G>A
|
rs4151524
|
0.03175
|
NM_000321.3(RB1):c.1815-104A>G
|
rs3092898
|
0.02847
|
NM_000321.3(RB1):c.1216-29A>G
|
rs3092886
|
0.02593
|
NM_000321.3(RB1):c.861+167A>G
|
rs2097211
|
0.01797
|
NM_000321.3(RB1):c.*964C>G
|
rs4151633
|
0.01550
|
NM_000321.3(RB1):c.*1687T>C
|
rs4151635
|
0.01545
|
NM_000321.3(RB1):c.2212-16T>A
|
rs201258424
|
0.01386
|
NM_000321.3(RB1):c.2490-1323C>T
|
rs55926808
|
0.01180
|
NM_000321.3(RB1):c.380+12T>C
|
rs3092881
|
0.01087
|
NM_000321.3(RB1):c.*463T>A
|
rs4151631
|
0.01065
|
NM_000321.3(RB1):c.*703G>T
|
rs139023385
|
0.00672
|
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)
|
rs4151539
|
0.00623
|
NM_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00570
|
NM_000321.3(RB1):c.2490-45A>G
|
rs4151610
|
0.00540
|
NM_000321.3(RB1):c.862-15C>A
|
rs115108608
|
0.00442
|
NM_000321.3(RB1):c.1390-11A>G
|
rs200658795
|
0.00365
|
NM_000321.3(RB1):c.1632A>G (p.Arg544=)
|
rs143948310
|
0.00245
|
NM_000321.3(RB1):c.2212-6C>T
|
rs776162179
|
0.00164
|
NM_000321.3(RB1):c.42C>T (p.Ala14=)
|
rs148980395
|
0.00162
|
NM_000321.3(RB1):c.380+10C>G
|
rs187110786
|
0.00158
|
NM_000321.3(RB1):c.*172G>A
|
rs143536240
|
0.00137
|
NM_000321.3(RB1):c.1421+9T>C
|
rs183417081
|
0.00108
|
NM_000321.3(RB1):c.1961-12T>C
|
rs201697122
|
0.00104
|
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser)
|
rs146897002
|
0.00080
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
NM_000321.3(RB1):c.52G>T (p.Ala18Ser)
|
rs528218090
|
0.00076
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
NM_000321.3(RB1):c.1770T>C (p.Cys590=)
|
rs145310579
|
0.00062
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
NM_000321.3(RB1):c.1707A>G (p.Leu569=)
|
rs3092895
|
0.00052
|
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp)
|
rs187912365
|
0.00051
|
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)
|
rs3092902
|
0.00040
|
NM_000321.3(RB1):c.1140C>T (p.Asn380=)
|
rs117865557
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000321.3(RB1):c.540-14T>C
|
rs140706037
|
0.00022
|
NM_000321.3(RB1):c.113G>A (p.Gly38Asp)
|
rs766529534
|
0.00016
|
NM_000321.3(RB1):c.1491A>T (p.Thr497=)
|
rs150115447
|
0.00015
|
NM_000321.3(RB1):c.-69G>C
|
rs753117180
|
0.00014
|
NM_000321.3(RB1):c.1156A>G (p.Met386Val)
|
rs564780653
|
0.00014
|
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys)
|
rs4151534
|
0.00014
|
NM_000321.3(RB1):c.2570G>A (p.Arg857His)
|
rs144668210
|
0.00013
|
NM_000321.3(RB1):c.2463A>G (p.Thr821=)
|
rs370088029
|
0.00011
|
NM_000321.3(RB1):c.2714-11C>T
|
rs764362157
|
0.00010
|
NM_000321.3(RB1):c.367A>G (p.Asn123Asp)
|
rs149800437
|
0.00010
|
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
|
rs148992508
|
0.00009
|
NM_000321.3(RB1):c.1960+19T>A
|
rs774145452
|
0.00008
|
NM_000321.3(RB1):c.1467C>T (p.Cys489=)
|
rs141608408
|
0.00007
|
NM_000321.3(RB1):c.1967G>A (p.Arg656Gln)
|
rs202031219
|
0.00007
|
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)
|
rs748094394
|
0.00006
|
NM_000321.3(RB1):c.*1748A>T
|
rs556205552
|
0.00005
|
NM_000321.3(RB1):c.2003G>A (p.Arg668His)
|
rs551747882
|
0.00005
|
NM_000321.3(RB1):c.2652A>C (p.Glu884Asp)
|
rs765537411
|
0.00005
|
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)
|
rs587778640
|
0.00004
|
NM_000321.3(RB1):c.1619G>T (p.Gly540Val)
|
rs769696726
|
0.00004
|
NM_000321.3(RB1):c.16C>T (p.Pro6Ser)
|
rs886043138
|
0.00004
|
NM_000321.3(RB1):c.173C>T (p.Thr58Ile)
|
rs138574644
|
0.00004
|
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp)
|
rs367668687
|
0.00004
|
NM_000321.3(RB1):c.462G>A (p.Lys154=)
|
rs369830657
|
0.00004
|
NM_000321.3(RB1):c.731T>C (p.Ile244Thr)
|
rs147754935
|
0.00004
|
NM_000321.3(RB1):c.941T>A (p.Val314Asp)
|
rs780006952
|
0.00004
|
NM_000321.3(RB1):c.*1771A>G
|
rs577749913
|
0.00003
|
NM_000321.3(RB1):c.109A>G (p.Ser37Gly)
|
rs896487590
|
0.00003
|
NM_000321.3(RB1):c.1859C>T (p.Thr620Met)
|
rs554834063
|
0.00003
|
NM_000321.3(RB1):c.1128-43C>T
|
rs955333850
|
0.00002
|
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)
|
rs974956317
|
0.00002
|
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)
|
rs1060503078
|
0.00002
|
NM_000321.3(RB1):c.1696-14C>T
|
rs776912915
|
0.00002
|
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile)
|
rs587778641
|
0.00002
|
NM_000321.3(RB1):c.1961-6C>T
|
rs200501806
|
0.00002
|
NM_000321.3(RB1):c.2212-15dup
|
rs1555294580
|
0.00002
|
NM_000321.3(RB1):c.2273C>T (p.Ser758Leu)
|
rs754814477
|
0.00002
|
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)
|
rs767011440
|
0.00001
|
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)
|
rs1470523018
|
0.00001
|
NM_000321.3(RB1):c.116C>T (p.Pro39Leu)
|
rs1180053508
|
0.00001
|
NM_000321.3(RB1):c.1421+6T>C
|
rs768192190
|
0.00001
|
NM_000321.3(RB1):c.1494T>C (p.Tyr498=)
|
rs768929728
|
0.00001
|
NM_000321.3(RB1):c.155C>T (p.Thr52Ile)
|
rs780588550
|
0.00001
|
NM_000321.3(RB1):c.1596C>T (p.Ile532=)
|
rs770728170
|
0.00001
|
NM_000321.3(RB1):c.1815-5T>C
|
rs770160524
|
0.00001
|
NM_000321.3(RB1):c.1876G>A (p.Ala626Thr)
|
rs747147942
|
0.00001
|
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser)
|
rs1007286459
|
0.00001
|
NM_000321.3(RB1):c.2002C>T (p.Arg668Cys)
|
rs369755801
|
0.00001
|
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)
|
rs3092903
|
0.00001
|
NM_000321.3(RB1):c.2274G>A (p.Ser758=)
|
rs558114005
|
0.00001
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
NM_000321.3(RB1):c.2521-7T>A
|
rs371150038
|
0.00001
|
NM_000321.3(RB1):c.265-6_265-4del
|
rs780733860
|
0.00001
|
NM_000321.3(RB1):c.269G>T (p.Gly90Val)
|
rs554727080
|
0.00001
|
NM_000321.3(RB1):c.272A>G (p.Tyr91Cys)
|
rs750850735
|
0.00001
|
NM_000321.3(RB1):c.341C>T (p.Ser114Leu)
|
rs139673557
|
0.00001
|
NM_000321.3(RB1):c.342G>A (p.Ser114=)
|
rs748093967
|
0.00001
|
NM_000321.3(RB1):c.539C>T (p.Ser180Leu)
|
rs367654488
|
0.00001
|
NM_000321.3(RB1):c.540-3T>C
|
rs149703672
|
0.00001
|
NM_000321.3(RB1):c.571C>T (p.Leu191=)
|
rs538578527
|
0.00001
|
NM_000321.3(RB1):c.685C>T (p.Leu229Phe)
|
rs766131342
|
0.00001
|
NM_000321.3(RB1):c.694C>T (p.Pro232Ser)
|
rs1195873978
|
0.00001
|
NM_000321.3(RB1):c.718+12A>G
|
rs535040007
|
0.00001
|
NM_000321.3(RB1):c.83C>G (p.Pro28Arg)
|
rs776175164
|
0.00001
|
NM_000321.3(RB1):c.898A>C (p.Met300Leu)
|
rs1060503086
|
0.00001
|
NM_000321.3(RB1):c.89A>C (p.Glu30Ala)
|
rs1482284498
|
0.00001
|
NM_000321.3(RB1):c.*1268G>A
|
rs571383547
|
|
NM_000321.3(RB1):c.-48C>T
|
|
|
NM_000321.3(RB1):c.1049+58G>A
|
rs3092883
|
|
NM_000321.3(RB1):c.1127+20del
|
rs1952727808
|
|
NM_000321.3(RB1):c.1128-45C>T
|
rs1285629437
|
|
NM_000321.3(RB1):c.1128-72G>T
|
rs185587
|
|
NM_000321.3(RB1):c.1274T>C (p.Ile425Thr)
|
|
|
NM_000321.3(RB1):c.1333-61dup
|
rs11449461
|
|
NM_000321.3(RB1):c.1333-9dup
|
rs766968771
|
|
NM_000321.3(RB1):c.137+13A>T
|
rs762766187
|
|
NM_000321.3(RB1):c.137+86T>C
|
rs2854351
|
|
NM_000321.3(RB1):c.138-262G>C
|
rs1981434
|
|
NM_000321.3(RB1):c.1389+194del
|
rs3092892
|
|
NM_000321.3(RB1):c.1389+25del
|
|
|
NM_000321.3(RB1):c.1389+34G>A
|
|
|
NM_000321.3(RB1):c.1390-168G>C
|
rs2070752
|
|
NM_000321.3(RB1):c.1390-17del
|
rs753535084
|
|
NM_000321.3(RB1):c.1390-17dup
|
rs753535084
|
|
NM_000321.3(RB1):c.1390-70del
|
rs35427721
|
|
NM_000321.3(RB1):c.1390-70dup
|
rs35427721
|
|
NM_000321.3(RB1):c.1410T>C (p.Ile470=)
|
rs578226820
|
|
NM_000321.3(RB1):c.1410T>G (p.Ile470Met)
|
rs578226820
|
|
NM_000321.3(RB1):c.1422-16T>C
|
|
|
NM_000321.3(RB1):c.1422-8del
|
rs747048469
|
|
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr)
|
rs201458896
|
|
NM_000321.3(RB1):c.1499-10del
|
rs148580581
|
|
NM_000321.3(RB1):c.1499-10dup
|
rs148580581
|
|
NM_000321.3(RB1):c.1499-57del
|
rs11351399
|
|
NM_000321.3(RB1):c.1695+81_1695+82insAA
|
rs4151540
|
|
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly)
|
rs779045727
|
|
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)
|
rs367578442
|
|
NM_000321.3(RB1):c.1861C>G (p.Arg621Gly)
|
rs367578442
|
|
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys)
|
rs367578442
|
|
NM_000321.3(RB1):c.1863T>A (p.Arg621=)
|
|
|
NM_000321.3(RB1):c.2106+111dup
|
rs66565903
|
|
NM_000321.3(RB1):c.2106+119_2106+120insCT
|
rs747042227
|
|
NM_000321.3(RB1):c.2106+119_2106+120insCTT
|
rs765008765
|
|
NM_000321.3(RB1):c.2106+119_2106+120insCTTTCTT
|
rs765008765
|
|
NM_000321.3(RB1):c.2106+120_2106+121del
|
rs66738983
|
|
NM_000321.3(RB1):c.2106+121del
|
rs66738983
|
|
NM_000321.3(RB1):c.2106+122_2106+149del
|
rs1566235830
|
|
NM_000321.3(RB1):c.2106+129dup
|
rs374033062
|
|
NM_000321.3(RB1):c.2106+146_2106+147insCTTTTT
|
rs10627069
|
|
NM_000321.3(RB1):c.2106+68_2106+70del
|
rs1379075407
|
|
NM_000321.3(RB1):c.2106+96_2106+147del
|
rs1566235744
|
|
NM_000321.3(RB1):c.2212-12G>T
|
rs776987458
|
|
NM_000321.3(RB1):c.2212-13_2212-12insTTTTTTTT
|
rs1593539077
|
|
NM_000321.3(RB1):c.2212-14C>T
|
rs80122842
|
|
NM_000321.3(RB1):c.2212-15A>T
|
rs372815788
|
|
NM_000321.3(RB1):c.2212-15_2212-14del
|
rs756296581
|
|
NM_000321.3(RB1):c.2212-16del
|
|
|
NM_000321.3(RB1):c.2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-17_2212-16del
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-17_2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-18_2212-16del
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-18_2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-29_2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-37_2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-9C>A
|
rs765386327
|
|
NM_000321.3(RB1):c.2325+11del
|
rs2138345110
|
|
NM_000321.3(RB1):c.2455C>G (p.Leu819Val)
|
rs375751988
|
|
NM_000321.3(RB1):c.2455C>T (p.Leu819=)
|
rs375751988
|
|
NM_000321.3(RB1):c.2489+19G>T
|
|
|
NM_000321.3(RB1):c.2489+214G>T
|
rs4151602
|
|
NM_000321.3(RB1):c.2490-43A>G
|
|
|
NM_000321.3(RB1):c.2490-79A>G
|
|
|
NM_000321.3(RB1):c.264+182_264+980del
|
|
|
NM_000321.3(RB1):c.264+18dup
|
rs750176218
|
|
NM_000321.3(RB1):c.264+310dup
|
rs11452683
|
|
NM_000321.3(RB1):c.265-244_265-237del
|
rs146556286
|
|
NM_000321.3(RB1):c.265-9551T>A
|
|
|
NM_000321.3(RB1):c.2664-10dup
|
|
|
NM_000321.3(RB1):c.2713+14del
|
rs2138361049
|
|
NM_000321.3(RB1):c.397A>C (p.Asn133His)
|
rs3092900
|
|
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)
|
rs572454921
|
|
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)
|
rs764881599
|
|
NM_000321.3(RB1):c.608-144dup
|
rs547128110
|
|
NM_000321.3(RB1):c.608-4del
|
rs762805947
|
|
NM_000321.3(RB1):c.608-4dup
|
rs762805947
|
|
NM_000321.3(RB1):c.719-315del
|
rs148037416
|
|
NM_000321.3(RB1):c.861+262del
|
rs11332935
|
|
NM_000321.3(RB1):c.861+262dup
|
rs11332935
|
|
NM_000321.3(RB1):c.862-127del
|
rs144536235
|
|
NM_000321.3(RB1):c.940-21C>A
|
rs559042622
|
|
NM_000321.3(RB1):c.940-9del
|
|
|