NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)
|
rs59691602
|
0.00655
|
NM_201253.3(CRB1):c.*393T>C
|
rs147966959
|
0.00373
|
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.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.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.*412T>C
|
rs564341986
|
0.00057
|
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.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.29T>C (p.Leu10Pro)
|
rs201609001
|
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.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.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.*116A>G
|
rs575882211
|
0.00016
|
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.2681A>G (p.Asn894Ser)
|
rs62636290
|
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.*261A>G
|
rs747349828
|
0.00009
|
NM_201253.3(CRB1):c.*324C>A
|
rs190166697
|
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_201253.2(CRB1):c.-195G>A
|
rs886045782
|
0.00007
|
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn)
|
rs1006177908
|
0.00007
|
NM_201253.3(CRB1):c.825G>A (p.Gly275=)
|
rs149685264
|
0.00007
|
NM_201253.3(CRB1):c.1172-15T>A
|
rs375141011
|
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.1945G>A (p.Asp649Asn)
|
rs138936375
|
0.00006
|
NM_201253.3(CRB1):c.2826G>T (p.Val942=)
|
rs781176401
|
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.3852G>A (p.Met1284Ile)
|
rs938864433
|
0.00005
|
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe)
|
rs148240351
|
0.00005
|
NM_201253.3(CRB1):c.*289A>G
|
rs780654592
|
0.00004
|
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.1577G>A (p.Arg526Gln)
|
rs531283439
|
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.2403G>A (p.Lys801=)
|
rs568010290
|
0.00004
|
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)
|
rs371089348
|
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.4157A>G (p.Lys1386Arg)
|
rs776191501
|
0.00004
|
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln)
|
rs764581378
|
0.00004
|
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.3625G>A (p.Val1209Met)
|
rs201349525
|
0.00003
|
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn)
|
rs147924782
|
0.00003
|
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp)
|
rs754054234
|
0.00003
|
NM_201253.3(CRB1):c.580C>T (p.Pro194Ser)
|
rs772447283
|
0.00003
|
NM_201253.3(CRB1):c.893G>C (p.Cys298Ser)
|
rs978443271
|
0.00003
|
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.1465G>A (p.Glu489Lys)
|
rs1389085632
|
0.00002
|
NM_201253.3(CRB1):c.1520T>C (p.Val507Ala)
|
rs917528638
|
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.2274C>G (p.Ser758Arg)
|
rs1474289008
|
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.3284G>A (p.Gly1095Glu)
|
rs751213257
|
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.404T>A (p.Ile135Asn)
|
rs1316048135
|
0.00002
|
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)
|
rs760100325
|
0.00002
|
NM_201253.3(CRB1):c.506G>A (p.Gly169Asp)
|
rs150314336
|
0.00002
|
NM_201253.3(CRB1):c.629G>T (p.Cys210Phe)
|
rs972802394
|
0.00002
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
NM_201253.3(CRB1):c.*158G>T
|
rs886045789
|
0.00001
|
NM_201253.3(CRB1):c.*171C>G
|
rs1036503792
|
0.00001
|
NM_201253.3(CRB1):c.-55C>T
|
rs965921500
|
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.1152C>G (p.Ile384Met)
|
rs781656059
|
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.127T>C (p.Ser43Pro)
|
rs1254919944
|
0.00001
|
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)
|
rs746597173
|
0.00001
|
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)
|
rs777377174
|
0.00001
|
NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr)
|
rs992770731
|
0.00001
|
NM_201253.3(CRB1):c.1496G>T (p.Gly499Val)
|
rs1283508348
|
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.1636A>G (p.Ile546Val)
|
rs745464770
|
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.1752C>T (p.Asp584=)
|
rs750442312
|
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.1933G>T (p.Asp645Tyr)
|
rs1218091828
|
0.00001
|
NM_201253.3(CRB1):c.1976C>T (p.Ser659Leu)
|
rs986645649
|
0.00001
|
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr)
|
rs757381371
|
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.2377G>A (p.Val793Ile)
|
rs528781963
|
0.00001
|
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser)
|
rs767723282
|
0.00001
|
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)
|
rs557930078
|
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.2677-343G>A
|
rs760861776
|
0.00001
|
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp)
|
rs749366098
|
0.00001
|
NM_201253.3(CRB1):c.276G>C (p.Arg92Ser)
|
rs751678963
|
0.00001
|
NM_201253.3(CRB1):c.2821C>A (p.Pro941Thr)
|
rs374914600
|
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.285G>C (p.Leu95=)
|
rs753898127
|
0.00001
|
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu)
|
rs905306614
|
0.00001
|
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)
|
rs62635655
|
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.3103C>T (p.His1035Tyr)
|
rs752329622
|
0.00001
|
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys)
|
rs1482942636
|
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.3306C>T (p.Ile1102=)
|
rs374786358
|
0.00001
|
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys)
|
rs115649214
|
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.3440C>T (p.Pro1147Leu)
|
rs1034421454
|
0.00001
|
NM_201253.3(CRB1):c.3613G>A (p.Gly1205Arg)
|
rs574742644
|
0.00001
|
NM_201253.3(CRB1):c.3620C>A (p.Thr1207Asn)
|
rs1334175594
|
0.00001
|
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu)
|
rs759022743
|
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.3878+10A>G
|
rs886043311
|
0.00001
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His)
|
rs62636281
|
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.4027G>A (p.Asp1343Asn)
|
rs771181041
|
0.00001
|
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr)
|
rs774187022
|
0.00001
|
NM_201253.3(CRB1):c.411T>C (p.Pro137=)
|
rs1009098995
|
0.00001
|
NM_201253.3(CRB1):c.4165T>C (p.Ser1389Pro)
|
rs1015110520
|
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.635G>T (p.Cys212Phe)
|
rs1658699227
|
0.00001
|
NM_201253.3(CRB1):c.639C>G (p.Pro213=)
|
rs1208641510
|
0.00001
|
NM_201253.3(CRB1):c.65T>A (p.Ile22Lys)
|
rs762741389
|
0.00001
|
NM_201253.3(CRB1):c.707G>A (p.Gly236Asp)
|
rs778322895
|
0.00001
|
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)
|
rs1452822430
|
0.00001
|
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn)
|
rs1461964160
|
0.00001
|
NM_201253.3(CRB1):c.872G>A (p.Ser291Asn)
|
rs1374962600
|
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.976C>T (p.His326Tyr)
|
rs773386179
|
0.00001
|
GRCh37/hg19 1q31.3(chr1:197202740-197266535)
|
|
|
NC_000001.10:g.(?_197237543)_(197237632_?)dup
|
|
|
NC_000001.10:g.(?_197297532)_(197326163_?)dup
|
|
|
NC_000001.10:g.(?_197297532)_(197447009_?)dup
|
|
|
NC_000001.10:g.(?_197390110)_(197398764_?)dup
|
|
|
NM_201253.2(CRB1):c.-204C>T
|
rs544047392
|
|
NM_201253.3(CRB1):c.*331_*337dup
|
rs886045790
|
|
NM_201253.3(CRB1):c.*81C>A
|
rs192819758
|
|
NM_201253.3(CRB1):c.*99G>T
|
rs1429931885
|
|
NM_201253.3(CRB1):c.-56C>G
|
rs1654712316
|
|
NM_201253.3(CRB1):c.1000G>A (p.Ala334Thr)
|
rs2125354252
|
|
NM_201253.3(CRB1):c.1005G>T (p.Gln335His)
|
|
|
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)
|
rs878853370
|
|
NM_201253.3(CRB1):c.1010A>G (p.Glu337Gly)
|
rs2125354280
|
|
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys)
|
rs1064797127
|
|
NM_201253.3(CRB1):c.1027T>C (p.Cys343Arg)
|
rs2125354340
|
|
NM_201253.3(CRB1):c.1030A>C (p.Asn344His)
|
|
|
NM_201253.3(CRB1):c.1042T>C (p.Cys348Arg)
|
rs2125354412
|
|
NM_201253.3(CRB1):c.1048T>C (p.Ser350Pro)
|
|
|
NM_201253.3(CRB1):c.104T>C (p.Leu35Pro)
|
rs1158559936
|
|
NM_201253.3(CRB1):c.1061G>A (p.Cys354Tyr)
|
|
|
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.1100C>T (p.Thr367Ile)
|
rs764225776
|
|
NM_201253.3(CRB1):c.1109CTT[2] (p.Ser372del)
|
|
|
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)
|
rs1660514556
|
|
NM_201253.3(CRB1):c.1123T>C (p.Tyr375His)
|
|
|
NM_201253.3(CRB1):c.1145T>C (p.Val382Ala)
|
|
|
NM_201253.3(CRB1):c.1181G>A (p.Cys394Tyr)
|
rs1664277152
|
|
NM_201253.3(CRB1):c.1183G>A (p.Glu395Lys)
|
|
|
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)
|
rs369775002
|
|
NM_201253.3(CRB1):c.1186G>A (p.Glu396Lys)
|
|
|
NM_201253.3(CRB1):c.1196A>G (p.Asn399Ser)
|
|
|
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
|
|
|
NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala)
|
rs781359016
|
|
NM_201253.3(CRB1):c.1235G>T (p.Cys412Phe)
|
rs2125468972
|
|
NM_201253.3(CRB1):c.1253A>C (p.Asn418Thr)
|
rs539152735
|
|
NM_201253.3(CRB1):c.1258A>G (p.Thr420Ala)
|
|
|
NM_201253.3(CRB1):c.1268G>A (p.Cys423Tyr)
|
rs2125469069
|
|
NM_201253.3(CRB1):c.1278T>G (p.Asp426Glu)
|
|
|
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)
|
rs751691851
|
|
NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys)
|
rs62636288
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.1331G>A (p.Gly444Asp)
|
|
|
NM_201253.3(CRB1):c.1337C>A (p.Thr446Asn)
|
rs1215864611
|
|
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)
|
rs1664290387
|
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
|
|
NM_201253.3(CRB1):c.137A>C (p.Lys46Thr)
|
|
|
NM_201253.3(CRB1):c.140A>G (p.Asp47Gly)
|
rs1240979285
|
|
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)
|
rs1553260314
|
|
NM_201253.3(CRB1):c.142T>A (p.Phe48Ile)
|
rs765448599
|
|
NM_201253.3(CRB1):c.1431G>A (p.Gly477=)
|
rs761872993
|
|
NM_201253.3(CRB1):c.1447G>C (p.Ala483Pro)
|
|
|
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.1534C>G (p.Leu512Val)
|
rs1664304309
|
|
NM_201253.3(CRB1):c.1538G>T (p.Arg513Met)
|
rs1571523673
|
|
NM_201253.3(CRB1):c.1544A>T (p.Gln515Leu)
|
rs2125469961
|
|
NM_201253.3(CRB1):c.1580G>A (p.Ser527Asn)
|
|
|
NM_201253.3(CRB1):c.1597G>A (p.Val533Met)
|
|
|
NM_201253.3(CRB1):c.1613T>A (p.Leu538Gln)
|
rs1664310357
|
|
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
|
|
|
NM_201253.3(CRB1):c.1625T>C (p.Ile542Thr)
|
rs2125470239
|
|
NM_201253.3(CRB1):c.1637T>C (p.Ile546Thr)
|
rs1427090221
|
|
NM_201253.3(CRB1):c.1640A>C (p.Gln547Pro)
|
rs1167933684
|
|
NM_201253.3(CRB1):c.1647T>A (p.Asn549Lys)
|
|
|
NM_201253.3(CRB1):c.1661T>G (p.Val554Gly)
|
|
|
NM_201253.3(CRB1):c.1664T>C (p.Leu555Pro)
|
|
|
NM_201253.3(CRB1):c.1685C>T (p.Thr562Ile)
|
|
|
NM_201253.3(CRB1):c.1687A>G (p.Ser563Gly)
|
rs1193275021
|
|
NM_201253.3(CRB1):c.1688G>C (p.Ser563Thr)
|
|
|
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg)
|
rs886043472
|
|
NM_201253.3(CRB1):c.1703A>C (p.His568Pro)
|
|
|
NM_201253.3(CRB1):c.1704T>A (p.His568Gln)
|
|
|
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.1733T>A (p.Val578Glu)
|
rs1266363944
|
|
NM_201253.3(CRB1):c.1738C>T (p.Leu580Phe)
|
rs761775378
|
|
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu)
|
rs1034422363
|
|
NM_201253.3(CRB1):c.176C>T (p.Thr59Ile)
|
rs1284729199
|
|
NM_201253.3(CRB1):c.1775T>C (p.Ile592Thr)
|
|
|
NM_201253.3(CRB1):c.1777G>A (p.Ala593Thr)
|
|
|
NM_201253.3(CRB1):c.1778C>G (p.Ala593Gly)
|
rs1447630642
|
|
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)
|
rs752212470
|
|
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.178G>A (p.Ala60Thr)
|
|
|
NM_201253.3(CRB1):c.1793C>T (p.Pro598Leu)
|
rs1314024688
|
|
NM_201253.3(CRB1):c.1810T>G (p.Ser604Ala)
|
rs1664329175
|
|
NM_201253.3(CRB1):c.1817G>A (p.Cys606Tyr)
|
|
|
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal)
|
rs2125471114
|
|
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln)
|
rs1057519162
|
|
NM_201253.3(CRB1):c.1852G>A (p.Val618Met)
|
rs1169856523
|
|
NM_201253.3(CRB1):c.1861A>G (p.Thr621Ala)
|
|
|
NM_201253.3(CRB1):c.1873G>A (p.Val625Ile)
|
|
|
NM_201253.3(CRB1):c.1878T>C (p.Ala626=)
|
rs1413323140
|
|
NM_201253.3(CRB1):c.1879C>G (p.Leu627Val)
|
|
|
NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp)
|
|
|
NM_201253.3(CRB1):c.1889T>C (p.Phe630Ser)
|
|
|
NM_201253.3(CRB1):c.1903T>A (p.Ser635Thr)
|
|
|
NM_201253.3(CRB1):c.1903T>C (p.Ser635Pro)
|
|
|
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.1922G>C (p.Gly641Ala)
|
rs2125471502
|
|
NM_201253.3(CRB1):c.1922G>T (p.Gly641Val)
|
|
|
NM_201253.3(CRB1):c.1936A>C (p.Ile646Leu)
|
rs757884719
|
|
NM_201253.3(CRB1):c.1958T>G (p.Ile653Ser)
|
rs1336674793
|
|
NM_201253.3(CRB1):c.1996G>A (p.Val666Ile)
|
|
|
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.2043T>G (p.Cys681Trp)
|
rs2125471930
|
|
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.2092T>C (p.Cys698Arg)
|
rs1185924666
|
|
NM_201253.3(CRB1):c.2093G>A (p.Cys698Tyr)
|
|
|
NM_201253.3(CRB1):c.2123T>A (p.Leu708Gln)
|
|
|
NM_201253.3(CRB1):c.2129A>G (p.Glu710Gly)
|
rs145282040
|
|
NM_201253.3(CRB1):c.2137G>A (p.Ala713Thr)
|
rs2125483533
|
|
NM_201253.3(CRB1):c.2141G>A (p.Gly714Asp)
|
rs2125483555
|
|
NM_201253.3(CRB1):c.2158G>A (p.Asp720Asn)
|
|
|
NM_201253.3(CRB1):c.2159A>G (p.Asp720Gly)
|
|
|
NM_201253.3(CRB1):c.2165C>T (p.Thr722Ile)
|
|
|
NM_201253.3(CRB1):c.2168G>T (p.Gly723Val)
|
rs759961722
|
|
NM_201253.3(CRB1):c.2174T>A (p.Val725Asp)
|
|
|
NM_201253.3(CRB1):c.2174T>C (p.Val725Ala)
|
|
|
NM_201253.3(CRB1):c.218C>T (p.Pro73Leu)
|
|
|
NM_201253.3(CRB1):c.2196C>G (p.Ser732Arg)
|
|
|
NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys)
|
|
|
NM_201253.3(CRB1):c.222C>G (p.Cys74Trp)
|
rs772819260
|
|
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu)
|
rs1664651920
|
|
NM_201253.3(CRB1):c.2254C>T (p.Leu752Phe)
|
rs2125483936
|
|
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro)
|
rs896160584
|
|
NM_201253.3(CRB1):c.2272A>G (p.Ser758Gly)
|
|
|
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)
|
rs201700675
|
|
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala)
|
rs1485086776
|
|
NM_201253.3(CRB1):c.2278T>A (p.Tyr760Asn)
|
rs2125484022
|
|
NM_201253.3(CRB1):c.2282A>G (p.Gln761Arg)
|
|
|
NM_201253.3(CRB1):c.2288T>A (p.Ile763Asn)
|
rs2125484063
|
|
NM_201253.3(CRB1):c.2294T>C (p.Val765Ala)
|
rs1272516105
|
|
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro)
|
rs62636287
|
|
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp)
|
rs878853365
|
|
NM_201253.3(CRB1):c.2311A>G (p.Arg771Gly)
|
|
|
NM_201253.3(CRB1):c.2327C>A (p.Thr776Asn)
|
rs1293863321
|
|
NM_201253.3(CRB1):c.2327C>T (p.Thr776Ile)
|
rs1293863321
|
|
NM_201253.3(CRB1):c.2329C>G (p.Pro777Ala)
|
|
|
NM_201253.3(CRB1):c.2334C>G (p.Asn778Lys)
|
|
|
NM_201253.3(CRB1):c.2339C>T (p.Pro780Leu)
|
|
|
NM_201253.3(CRB1):c.2340C>T (p.Pro780=)
|
rs2125484301
|
|
NM_201253.3(CRB1):c.2344T>G (p.Leu782Val)
|
|
|
NM_201253.3(CRB1):c.2363T>G (p.Leu788Arg)
|
rs1664662355
|
|
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
|
rs1433518605
|
|
NM_201253.3(CRB1):c.2380C>A (p.His794Asn)
|
rs1294237377
|
|
NM_201253.3(CRB1):c.2382C>G (p.His794Gln)
|
|
|
NM_201253.3(CRB1):c.2387T>C (p.Ile796Thr)
|
|
|
NM_201253.3(CRB1):c.238C>G (p.Gln80Glu)
|
rs1658660736
|
|
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.2416G>C (p.Glu806Gln)
|
|
|
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro)
|
rs1664667136
|
|
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)
|
rs1009552469
|
|
NM_201253.3(CRB1):c.2426A>G (p.Gln809Arg)
|
|
|
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.2479G>A (p.Gly827Arg)
|
rs62636269
|
|
NM_201253.3(CRB1):c.2480G>T (p.Gly827Val)
|
|
|
NM_201253.3(CRB1):c.2486T>A (p.Val829Asp)
|
rs1664670946
|
|
NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn)
|
rs2125484835
|
|
NM_201253.3(CRB1):c.250A>G (p.Thr84Ala)
|
rs1658661930
|
|
NM_201253.3(CRB1):c.2521A>C (p.Thr841Pro)
|
rs1013704098
|
|
NM_201253.3(CRB1):c.2522C>T (p.Thr841Ile)
|
rs2125484956
|
|
NM_201253.3(CRB1):c.254G>T (p.Cys85Phe)
|
|
|
NM_201253.3(CRB1):c.2552G>C (p.Cys851Ser)
|
|
|
NM_201253.3(CRB1):c.2557C>A (p.Gln853Lys)
|
|
|
NM_201253.3(CRB1):c.2560G>C (p.Asp854His)
|
rs1553261618
|
|
NM_201253.3(CRB1):c.2560G>T (p.Asp854Tyr)
|
rs1553261618
|
|
NM_201253.3(CRB1):c.2567G>A (p.Arg856Lys)
|
|
|
NM_201253.3(CRB1):c.2568A>C (p.Arg856Ser)
|
|
|
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)
|
rs1664678030
|
|
NM_201253.3(CRB1):c.2573A>G (p.Asn858Ser)
|
rs2125485150
|
|
NM_201253.3(CRB1):c.2582A>C (p.Asn861Thr)
|
rs1664679702
|
|
NM_201253.3(CRB1):c.2596C>A (p.Pro866Thr)
|
|
|
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu)
|
rs1664680830
|
|
NM_201253.3(CRB1):c.2612A>G (p.Asn871Ser)
|
|
|
NM_201253.3(CRB1):c.2632C>T (p.Leu878Phe)
|
rs779370684
|
|
NM_201253.3(CRB1):c.2635G>A (p.Val879Ile)
|
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.2645C>T (p.Thr882Ile)
|
|
|
NM_201253.3(CRB1):c.2647C>A (p.Gln883Lys)
|
rs2125485481
|
|
NM_201253.3(CRB1):c.2651_2652delinsAT (p.Gly884Asp)
|
rs2125485510
|
|
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
|
|
|
NM_201253.3(CRB1):c.2671T>C (p.Cys891Arg)
|
rs62635658
|
|
NM_201253.3(CRB1):c.2676+4A>G
|
|
|
NM_201253.3(CRB1):c.2676+5T>C
|
|
|
NM_201253.3(CRB1):c.2677-13C>A
|
|
|
NM_201253.3(CRB1):c.2683C>A (p.Pro895Thr)
|
rs781635398
|
|
NM_201253.3(CRB1):c.2693A>G (p.Asn898Ser)
|
rs780489778
|
|
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.2727C>A (p.Phe909Leu)
|
|
|
NM_201253.3(CRB1):c.2779T>C (p.Trp927Arg)
|
|
|
NM_201253.3(CRB1):c.2784T>G (p.Cys928Trp)
|
|
|
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr)
|
rs1558133731
|
|
NM_201253.3(CRB1):c.2805C>A (p.His935Gln)
|
rs767706271
|
|
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
|
|
|
NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)
|
|
|
NM_201253.3(CRB1):c.2824G>A (p.Val942Met)
|
|
|
NM_201253.3(CRB1):c.2834G>A (p.Gly945Glu)
|
rs762685645
|
|
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+33T>G
|
|
|
NM_201253.3(CRB1):c.2843-1G>A
|
rs878853368
|
|
NM_201253.3(CRB1):c.2843-4_2843-2del
|
|
|
NM_201253.3(CRB1):c.2849C>T (p.Ala950Val)
|
rs1665039717
|
|
NM_201253.3(CRB1):c.2863A>C (p.Asn955His)
|
rs886045785
|
|
NM_201253.3(CRB1):c.2867G>T (p.Gly956Val)
|
rs267598279
|
|
NM_201253.3(CRB1):c.2874C>A (p.Ser958Arg)
|
rs372778560
|
|
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del)
|
rs62645745
|
|
NM_201253.3(CRB1):c.2889C>G (p.Phe963Leu)
|
rs905306614
|
|
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.2917C>G (p.Leu973Val)
|
rs886045786
|
|
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.2951A>C (p.Asp984Ala)
|
rs1227467460
|
|
NM_201253.3(CRB1):c.2956A>T (p.Asn986Tyr)
|
rs1665048722
|
|
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr)
|
rs1571555801
|
|
NM_201253.3(CRB1):c.2970_2971delinsTT (p.Leu990_His991delinsPheTyr)
|
rs2125499076
|
|
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)
|
rs2125499116
|
|
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.3014A>G (p.Asp1005Gly)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3038A>C (p.Gln1013Pro)
|
rs886043310
|
|
NM_201253.3(CRB1):c.3041G>A (p.Ser1014Asn)
|
|
|
NM_201253.3(CRB1):c.3049A>G (p.Ser1017Gly)
|
rs2125499301
|
|
NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro)
|
rs1553262957
|
|
NM_201253.3(CRB1):c.3080del (p.Gln1027fs)
|
rs1558137934
|
|
NM_201253.3(CRB1):c.3085G>A (p.Val1029Met)
|
rs757383417
|
|
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)
|
rs1064797128
|
|
NM_201253.3(CRB1):c.3086T>C (p.Val1029Ala)
|
rs1064797128
|
|
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.3098C>T (p.Thr1033Ile)
|
|
|
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg)
|
rs1665062132
|
|
NM_201253.3(CRB1):c.3106G>A (p.Glu1036Lys)
|
|
|
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe)
|
rs1665065652
|
|
NM_201253.3(CRB1):c.3163G>C (p.Val1055Leu)
|
|
|
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr)
|
rs727503889
|
|
NM_201253.3(CRB1):c.316A>C (p.Ile106Leu)
|
|
|
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.3203C>A (p.Thr1068Asn)
|
rs1452661857
|
|
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.3224A>C (p.Lys1075Thr)
|
rs2125499800
|
|
NM_201253.3(CRB1):c.3232A>G (p.Thr1078Ala)
|
|
|
NM_201253.3(CRB1):c.3239T>C (p.Ile1080Thr)
|
rs770192349
|
|
NM_201253.3(CRB1):c.3256G>T (p.Ala1086Ser)
|
rs2125499915
|
|
NM_201253.3(CRB1):c.3257C>T (p.Ala1086Val)
|
|
|
NM_201253.3(CRB1):c.3274G>A (p.Gly1092Ser)
|
rs1402562231
|
|
NM_201253.3(CRB1):c.3275G>A (p.Gly1092Asp)
|
|
|
NM_201253.3(CRB1):c.3282A>C (p.Gln1094His)
|
|
|
NM_201253.3(CRB1):c.3282A>T (p.Gln1094His)
|
rs752719776
|
|
NM_201253.3(CRB1):c.328A>G (p.Thr110Ala)
|
|
|
NM_201253.3(CRB1):c.3304A>G (p.Ile1102Val)
|
|
|
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg)
|
rs779253997
|
|
NM_201253.3(CRB1):c.3343G>T (p.Gly1115Cys)
|
|
|
NM_201253.3(CRB1):c.3373T>C (p.Phe1125Leu)
|
|
|
NM_201253.3(CRB1):c.338C>T (p.Ser113Phe)
|
|
|
NM_201253.3(CRB1):c.3398T>C (p.Val1133Ala)
|
|
|
NM_201253.3(CRB1):c.3400G>C (p.Val1134Leu)
|
rs1045224692
|
|
NM_201253.3(CRB1):c.3406G>A (p.Gly1136Ser)
|
|
|
NM_201253.3(CRB1):c.3427T>C (p.Cys1143Arg)
|
|
|
NM_201253.3(CRB1):c.3466G>A (p.Asp1156Asn)
|
|
|
NM_201253.3(CRB1):c.3473A>G (p.Tyr1158Cys)
|
rs2125500588
|
|
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.3491C>T (p.Ser1164Phe)
|
rs761492989
|
|
NM_201253.3(CRB1):c.3511G>T (p.Gly1171Trp)
|
|
|
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)
|
rs794727317
|
|
NM_201253.3(CRB1):c.3520T>G (p.Cys1174Gly)
|
|
|
NM_201253.3(CRB1):c.3521G>A (p.Cys1174Tyr)
|
rs1665102302
|
|
NM_201253.3(CRB1):c.3521G>C (p.Cys1174Ser)
|
rs1665102302
|
|
NM_201253.3(CRB1):c.3526C>T (p.Leu1176Phe)
|
|
|
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
|
|
|
NM_201253.3(CRB1):c.3538G>A (p.Glu1180Lys)
|
|
|
NM_201253.3(CRB1):c.353C>T (p.Ser118Phe)
|
|
|
NM_201253.3(CRB1):c.3559A>T (p.Ile1187Phe)
|
rs371586216
|
|
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly)
|
rs1658671611
|
|
NM_201253.3(CRB1):c.3562C>T (p.His1188Tyr)
|
|
|
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.3596A>G (p.His1199Arg)
|
|
|
NM_201253.3(CRB1):c.3617A>T (p.Tyr1206Phe)
|
|
|
NM_201253.3(CRB1):c.3623G>T (p.Gly1208Val)
|
|
|
NM_201253.3(CRB1):c.3631T>A (p.Cys1211Ser)
|
|
|
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.3679G>A (p.Ala1227Thr)
|
|
|
NM_201253.3(CRB1):c.3698C>T (p.Thr1233Ile)
|
rs1665116355
|
|
NM_201253.3(CRB1):c.370A>T (p.Ile124Phe)
|
|
|
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)
|
rs886045783
|
|
NM_201253.3(CRB1):c.3729T>G (p.Asn1243Lys)
|
|
|
NM_201253.3(CRB1):c.3749+5G>A
|
|
|
NM_201253.3(CRB1):c.3773T>G (p.Val1258Gly)
|
rs2125506192
|
|
NM_201253.3(CRB1):c.377A>G (p.His126Arg)
|
rs1300735825
|
|
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys)
|
rs1007094417
|
|
NM_201253.3(CRB1):c.3785A>G (p.Glu1262Gly)
|
|
|
NM_201253.3(CRB1):c.378T>A (p.His126Gln)
|
|
|
NM_201253.3(CRB1):c.3791C>A (p.Thr1264Lys)
|
rs1284147743
|
|
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
|
|
|
NM_201253.3(CRB1):c.3840A>T (p.Glu1280Asp)
|
|
|
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)
|
rs1665279435
|
|
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
|
|
|
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
|
|
|
NM_201253.3(CRB1):c.3871G>A (p.Gly1291Arg)
|
|
|
NM_201253.3(CRB1):c.3874G>C (p.Glu1292Gln)
|
|
|
NM_201253.3(CRB1):c.3878+9C>T
|
rs1571564812
|
|
NM_201253.3(CRB1):c.3880T>C (p.Cys1294Arg)
|
rs1665477273
|
|
NM_201253.3(CRB1):c.3881G>T (p.Cys1294Phe)
|
rs754575460
|
|
NM_201253.3(CRB1):c.3893T>C (p.Ile1298Thr)
|
rs794727039
|
|
NM_201253.3(CRB1):c.3901T>C (p.Cys1301Arg)
|
|
|
NM_201253.3(CRB1):c.3917G>A (p.Cys1306Tyr)
|
rs2125513658
|
|
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.3935G>T (p.Cys1312Phe)
|
|
|
NM_201253.3(CRB1):c.3947T>G (p.Leu1316Arg)
|
|
|
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup)
|
rs750573216
|
|
NM_201253.3(CRB1):c.3987C>T (p.Gly1329=)
|
|
|
NM_201253.3(CRB1):c.3994T>A (p.Cys1332Ser)
|
|
|
NM_201253.3(CRB1):c.4005C>T (p.Asp1335=)
|
|
|
NM_201253.3(CRB1):c.4006-18T>G
|
rs2125573687
|
|
NM_201253.3(CRB1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu)
|
|
|
NM_201253.3(CRB1):c.4046G>A (p.Gly1349Asp)
|
rs761584516
|
|
NM_201253.3(CRB1):c.405C>G (p.Ile135Met)
|
|
|
NM_201253.3(CRB1):c.407G>T (p.Cys136Phe)
|
rs752559648
|
|
NM_201253.3(CRB1):c.40C>T (p.Leu14Phe)
|
|
|
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)
|
rs1667262233
|
|
NM_201253.3(CRB1):c.4136A>C (p.Tyr1379Ser)
|
rs1571645532
|
|
NM_201253.3(CRB1):c.413C>A (p.Ala138Asp)
|
|
|
NM_201253.3(CRB1):c.4140C>A (p.Ser1380Arg)
|
|
|
NM_201253.3(CRB1):c.4147C>G (p.Arg1383Gly)
|
|
|
NM_201253.3(CRB1):c.4148G>T (p.Arg1383Leu)
|
|
|
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
|
|
|
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)
|
rs1571645627
|
|
NM_201253.3(CRB1):c.4156A>G (p.Lys1386Glu)
|
|
|
NM_201253.3(CRB1):c.4160A>C (p.Glu1387Ala)
|
|
|
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.4166C>T (p.Ser1389Phe)
|
rs775906215
|
|
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro)
|
rs764581378
|
|
NM_201253.3(CRB1):c.4172T>G (p.Val1391Gly)
|
|
|
NM_201253.3(CRB1):c.4196C>T (p.Pro1399Leu)
|
rs1261177913
|
|
NM_201253.3(CRB1):c.4202C>A (p.Ala1401Glu)
|
|
|
NM_201253.3(CRB1):c.4202C>T (p.Ala1401Val)
|
|
|
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)
|
rs767920858
|
|
NM_201253.3(CRB1):c.4219T>A (p.Ter1407Lys)
|
rs1667270315
|
|
NM_201253.3(CRB1):c.4219T>C (p.Ter1407Gln)
|
rs1667270315
|
|
NM_201253.3(CRB1):c.439A>G (p.Ile147Val)
|
rs2125304346
|
|
NM_201253.3(CRB1):c.448G>A (p.Asp150Asn)
|
|
|
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.478G>T (p.Gly160Trp)
|
|
|
NM_201253.3(CRB1):c.479G>A (p.Gly160Glu)
|
rs1352663513
|
|
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)
|
rs1064797126
|
|
NM_201253.3(CRB1):c.487T>G (p.Cys163Gly)
|
rs2125304485
|
|
NM_201253.3(CRB1):c.491A>G (p.Gln164Arg)
|
rs952354514
|
|
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.508T>C (p.Tyr170His)
|
rs1571848981
|
|
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.521G>C (p.Cys174Ser)
|
|
|
NM_201253.3(CRB1):c.523G>A (p.Val175Ile)
|
rs1166808508
|
|
NM_201253.3(CRB1):c.526C>T (p.Pro176Ser)
|
|
|
NM_201253.3(CRB1):c.527C>T (p.Pro176Leu)
|
rs1417370819
|
|
NM_201253.3(CRB1):c.529G>C (p.Gly177Arg)
|
rs1571849059
|
|
NM_201253.3(CRB1):c.532T>C (p.Tyr178His)
|
|
|
NM_201253.3(CRB1):c.550G>A (p.Asp184Asn)
|
|
|
NM_201253.3(CRB1):c.551A>G (p.Asp184Gly)
|
|
|
NM_201253.3(CRB1):c.578A>G (p.Asp193Gly)
|
|
|
NM_201253.3(CRB1):c.579T>A (p.Asp193Glu)
|
|
|
NM_201253.3(CRB1):c.592G>A (p.Glu198Lys)
|
rs1658694943
|
|
NM_201253.3(CRB1):c.604C>T (p.Leu202Phe)
|
|
|
NM_201253.3(CRB1):c.616G>A (p.Gly206Arg)
|
|
|
NM_201253.3(CRB1):c.629G>A (p.Cys210Tyr)
|
|
|
NM_201253.3(CRB1):c.62A>G (p.Tyr21Cys)
|
|
|
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)
|
rs1658699227
|
|
NM_201253.3(CRB1):c.635G>C (p.Cys212Ser)
|
|
|
NM_201253.3(CRB1):c.666A>T (p.Glu222Asp)
|
rs1659641198
|
|
NM_201253.3(CRB1):c.677A>C (p.Asp226Ala)
|
|
|
NM_201253.3(CRB1):c.683G>A (p.Cys228Tyr)
|
rs1163013240
|
|
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg)
|
rs978649523
|
|
NM_201253.3(CRB1):c.698G>A (p.Cys233Tyr)
|
|
|
NM_201253.3(CRB1):c.757G>A (p.Gly253Arg)
|
|
|
NM_201253.3(CRB1):c.769G>T (p.Asp257Tyr)
|
rs2125328452
|
|
NM_201253.3(CRB1):c.774C>A (p.His258Gln)
|
rs2125328459
|
|
NM_201253.3(CRB1):c.775T>C (p.Cys259Arg)
|
|
|
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)
|
rs1659650891
|
|
NM_201253.3(CRB1):c.805C>A (p.Gln269Lys)
|
|
|
NM_201253.3(CRB1):c.809C>G (p.Pro270Arg)
|
rs1659652337
|
|
NM_201253.3(CRB1):c.817C>T (p.His273Tyr)
|
|
|
NM_201253.3(CRB1):c.823G>A (p.Gly275Arg)
|
|
|
NM_201253.3(CRB1):c.830G>A (p.Cys277Tyr)
|
|
|
NM_201253.3(CRB1):c.833T>C (p.Val278Ala)
|
|
|
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu)
|
rs930465675
|
|
NM_201253.3(CRB1):c.848+4C>G
|
rs1659656136
|
|
NM_201253.3(CRB1):c.849-26A>G
|
rs1558070004
|
|
NM_201253.3(CRB1):c.862T>A (p.Cys288Ser)
|
rs1571877872
|
|
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg)
|
rs1571877872
|
|
NM_201253.3(CRB1):c.866C>A (p.Thr289Lys)
|
|
|
NM_201253.3(CRB1):c.872G>T (p.Ser291Ile)
|
rs1374962600
|
|
NM_201253.3(CRB1):c.875G>T (p.Gly292Val)
|
|
|
NM_201253.3(CRB1):c.889C>T (p.His297Tyr)
|
|
|
NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del)
|
|
|
NM_201253.3(CRB1):c.926C>G (p.Pro309Arg)
|
|
|
NM_201253.3(CRB1):c.92A>C (p.Asn31Thr)
|
|
|
NM_201253.3(CRB1):c.936T>G (p.Asn312Lys)
|
|
|
NM_201253.3(CRB1):c.955A>C (p.Ser319Arg)
|
|
|
NM_201253.3(CRB1):c.964A>G (p.Asn322Asp)
|
rs942572644
|
|
NM_201253.3(CRB1):c.965A>G (p.Asn322Ser)
|
|
|
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly)
|
rs1452416023
|
|
NM_201253.3(CRB1):c.982T>C (p.Trp328Arg)
|
|
|
NM_201253.3(CRB1):c.987T>C (p.Pro329=)
|
rs754038973
|
|
NM_201253.3(CRB1):c.988+10A>T
|
rs1659846392
|
|
NM_201253.3(CRB1):c.989-2014_989-1973del
|
|
|
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys)
|
rs1658648856
|
|