NM_201253.3(CRB1):c.1410A>G (p.Leu470=)
|
rs3902057
|
0.92528
|
NM_201253.3(CRB1):c.849-35T>C
|
rs1337167
|
0.82735
|
NM_201253.3(CRB1):c.2677-493A>G
|
rs7534863
|
0.41382
|
NM_201253.3(CRB1):c.71-12A>T
|
rs12042179
|
0.33853
|
NM_201253.3(CRB1):c.849-62T>G
|
rs1572514
|
0.24628
|
NM_201253.3(CRB1):c.*28T>C
|
rs41302107
|
0.07060
|
NM_201253.3(CRB1):c.2128+15A>C
|
rs75691013
|
0.01643
|
NM_201253.3(CRB1):c.2677-8C>T
|
rs73071678
|
0.00970
|
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)
|
rs59691602
|
0.00655
|
NM_201253.3(CRB1):c.*393T>C
|
rs147966959
|
0.00373
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)
|
rs62636287
|
0.00208
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)
|
rs151092557
|
0.00122
|
NM_201253.3(CRB1):c.2843-13C>T
|
rs199808176
|
0.00109
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)
|
rs116246250
|
0.00067
|
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)
|
rs62636283
|
0.00064
|
NM_201253.3(CRB1):c.3750-3T>C
|
rs187937543
|
0.00063
|
NM_201253.3(CRB1):c.*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.866C>T (p.Thr289Met)
|
rs62636263
|
0.00025
|
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala)
|
rs144029476
|
0.00022
|
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)
|
rs115400822
|
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.1192G>A (p.Val398Ile)
|
rs144011428
|
0.00014
|
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
NM_201253.3(CRB1):c.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.3171C>T (p.Asn1057=)
|
rs62636284
|
0.00010
|
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.1305A>T (p.Gly435=)
|
rs34813822
|
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.1075T>G (p.Ser359Ala)
|
rs533227950
|
0.00007
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn)
|
rs937362854
|
0.00006
|
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)
|
rs764256655
|
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.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.2035C>G (p.Gln679Glu)
|
rs62636286
|
0.00004
|
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)
|
rs530046423
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)
|
rs371089348
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
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.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)
|
rs1409490389
|
0.00003
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)
|
rs201893755
|
0.00003
|
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)
|
rs372778560
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met)
|
rs201349525
|
0.00003
|
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)
|
rs763324776
|
0.00003
|
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)
|
rs778627080
|
0.00002
|
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
|
rs763111500
|
0.00002
|
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)
|
rs201949837
|
0.00002
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser)
|
rs557111131
|
0.00002
|
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)
|
rs768713412
|
0.00002
|
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)
|
rs757740068
|
0.00002
|
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
|
rs760544654
|
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.1149dup (p.Ile384fs)
|
rs1660517678
|
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.127T>C (p.Ser43Pro)
|
rs1254919944
|
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.1507A>G (p.Thr503Ala)
|
rs375590765
|
0.00001
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
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.1831T>C (p.Ser611Pro)
|
rs769909288
|
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.1995T>C (p.Asn665=)
|
rs774597710
|
0.00001
|
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys)
|
rs1180527322
|
0.00001
|
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)
|
rs765676754
|
0.00001
|
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr)
|
rs757381371
|
0.00001
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu)
|
rs886045784
|
0.00001
|
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)
|
rs776591659
|
0.00001
|
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)
|
rs62636271
|
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.2715G>A (p.Arg905=)
|
rs534108312
|
0.00001
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)
|
rs62635655
|
0.00001
|
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)
|
rs752329622
|
0.00001
|
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)
|
rs62635656
|
0.00001
|
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys)
|
rs1482942636
|
0.00001
|
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys)
|
rs115649214
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)
|
rs1031415706
|
0.00001
|
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)
|
rs746774206
|
0.00001
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter)
|
rs1246546027
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201253.3(CRB1):c.4039del (p.Thr1347fs)
|
rs745422941
|
0.00001
|
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=)
|
rs753097155
|
0.00001
|
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr)
|
rs752559648
|
0.00001
|
NM_201253.3(CRB1):c.411T>C (p.Pro137=)
|
rs1009098995
|
0.00001
|
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)
|
rs1658691162
|
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.653-1G>T
|
rs760287363
|
0.00001
|
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)
|
rs1452822430
|
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
|
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)
|
rs778232235
|
0.00001
|
NM_201253.2(CRB1):c.-204C>T
|
rs544047392
|
|
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.1003C>T (p.Gln335Ter)
|
|
|
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys)
|
rs1064797127
|
|
NM_201253.3(CRB1):c.1041del (p.Cys348fs)
|
rs1660507732
|
|
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr)
|
rs886039871
|
|
NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)
|
|
|
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)
|
rs1660514556
|
|
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)
|
rs1660515780
|
|
NM_201253.3(CRB1):c.112del (p.Ser38fs)
|
rs62645750
|
|
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)
|
rs1660516364
|
|
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg)
|
rs1571897130
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1148_1149dup (p.Ile384fs)
|
rs1660517312
|
|
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)
|
rs115352681
|
|
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)
|
rs369775002
|
|
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
|
|
|
NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala)
|
rs781359016
|
|
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)
|
rs62645746
|
|
NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter)
|
|
|
NM_201253.3(CRB1):c.1268del (p.Cys423fs)
|
|
|
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
|
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.132dup (p.Cys45fs)
|
rs2125303667
|
|
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)
|
rs1664290387
|
|
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)
|
rs1664290387
|
|
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)
|
rs2125303672
|
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
|
|
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)
|
rs1664292210
|
|
NM_201253.3(CRB1):c.139del (p.Asp47fs)
|
|
|
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
|
|
|
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)
|
rs1553260314
|
|
NM_201253.3(CRB1):c.1426del (p.Thr476fs)
|
|
|
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)
|
rs866822473
|
|
NM_201253.3(CRB1):c.1431del (p.Ser478fs)
|
rs1553260321
|
|
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)
|
rs963201816
|
|
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)
|
rs780580887
|
|
NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter)
|
|
|
NM_201253.3(CRB1):c.1499C>G (p.Ser500Ter)
|
|
|
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
|
|
|
NM_201253.3(CRB1):c.1633delinsAA (p.Ser545fs)
|
|
|
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter)
|
rs768107603
|
|
NM_201253.3(CRB1):c.1665dup (p.Leu556fs)
|
|
|
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg)
|
rs886043472
|
|
NM_201253.3(CRB1):c.1708G>A (p.Val570Met)
|
rs754482666
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr)
|
rs1664322968
|
|
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu)
|
rs1034422363
|
|
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)
|
rs1471328495
|
|
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)
|
rs1664325377
|
|
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)
|
rs752212470
|
|
NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter)
|
rs371114178
|
|
NM_201253.3(CRB1):c.1831del (p.Ser611fs)
|
rs2125471098
|
|
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal)
|
rs2125471114
|
|
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)
|
rs768905244
|
|
NM_201253.3(CRB1):c.1878T>C (p.Ala626=)
|
rs1413323140
|
|
NM_201253.3(CRB1):c.1901del (p.Pro634fs)
|
|
|
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu)
|
rs1238001290
|
|
NM_201253.3(CRB1):c.1971del (p.Asn657fs)
|
rs1664343244
|
|
NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter)
|
rs1664348016
|
|
NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)
|
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)
|
rs1204363918
|
|
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter)
|
rs1558127317
|
|
NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs)
|
|
|
NM_201253.3(CRB1):c.20_23del (p.Asn7fs)
|
rs2125193925
|
|
NM_201253.3(CRB1):c.2128+1G>C
|
rs2125472205
|
|
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)
|
rs62645755
|
|
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
|
|
|
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe)
|
rs1664649015
|
|
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
|
rs62636267
|
|
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu)
|
rs863224862
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)
|
rs28939720
|
|
NM_201253.3(CRB1):c.2234C>G (p.Thr745Arg)
|
rs28939720
|
|
NM_201253.3(CRB1):c.2243del (p.Pro748fs)
|
rs1664651786
|
|
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del)
|
rs62635653
|
|
NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)
|
|
|
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)
|
rs2125483925
|
|
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
|
|
|
NM_201253.3(CRB1):c.2340C>T (p.Pro780=)
|
rs2125484301
|
|
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
|
rs1433518605
|
|
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro)
|
rs1355198242
|
|
NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter)
|
rs766411096
|
|
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.2466G>A (p.Trp822Ter)
|
rs1664669402
|
|
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter)
|
rs62636269
|
|
NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn)
|
rs2125484835
|
|
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)
|
rs1664671663
|
|
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)
|
rs1571540258
|
|
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)
|
rs1085307972
|
|
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs)
|
rs778419716
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter)
|
|
|
NM_201253.3(CRB1):c.2540T>C (p.Phe847Ser)
|
rs758723407
|
|
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala)
|
rs757137398
|
|
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs)
|
rs62636270
|
|
NM_201253.3(CRB1):c.2570_2574del (p.Leu857fs)
|
|
|
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)
|
rs62636260
|
|
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg)
|
rs1664680011
|
|
NM_201253.3(CRB1):c.2630_2631dup (p.Leu878fs)
|
rs2125485368
|
|
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp)
|
rs1664683759
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
|
|
|
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)
|
rs759662695
|
|
NM_201253.3(CRB1):c.2676+1G>A
|
|
|
NM_201253.3(CRB1):c.2677-1G>T
|
|
|
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)
|
rs1571544334
|
|
NM_201253.3(CRB1):c.2693A>G (p.Asn898Ser)
|
rs780489778
|
|
NM_201253.3(CRB1):c.2704del (p.Cys902fs)
|
|
|
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter)
|
rs2125488868
|
|
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)
|
rs863223341
|
|
NM_201253.3(CRB1):c.2785_2787delinsTG (p.Gly929fs)
|
|
|
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr)
|
rs1558133731
|
|
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
|
|
|
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
|
|
|
NM_201253.3(CRB1):c.2832del (p.Gly945fs)
|
|
|
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)
|
rs574162883
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.2843-1G>T
|
rs878853368
|
|
NM_201253.3(CRB1):c.2843-3dup
|
rs776525385
|
|
NM_201253.3(CRB1):c.2853dup (p.Ala952fs)
|
rs281865173
|
|
NM_201253.3(CRB1):c.2863A>C (p.Asn955His)
|
rs886045785
|
|
NM_201253.3(CRB1):c.2917C>G (p.Leu973Val)
|
rs886045786
|
|
NM_201253.3(CRB1):c.291del (p.Lys97fs)
|
rs2125303994
|
|
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)
|
rs2125499116
|
|
NM_201253.3(CRB1):c.2981_2982del (p.Lys994fs)
|
|
|
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe)
|
rs910299744
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3017C>A (p.Ser1006Tyr)
|
|
|
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)
|
rs143511261
|
|
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)
|
rs62636274
|
|
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile)
|
rs62636274
|
|
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg)
|
rs1665062132
|
|
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)
|
rs781705903
|
|
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe)
|
rs1665065652
|
|
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs)
|
rs1665066272
|
|
NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter)
|
rs1249210332
|
|
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
|
|
|
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu)
|
rs1665071224
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|
NM_201253.3(CRB1):c.3194del (p.Thr1065fs)
|
|
|
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)
|
rs1452661857
|
|
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val)
|
rs1665084413
|
|
NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter)
|
|
|
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)
|
rs62636276
|
|
NM_201253.3(CRB1):c.3343_3352del (p.Gly1115fs)
|
|
|
NM_201253.3(CRB1):c.3347del (p.Phe1116fs)
|
rs62636278
|
|
NM_201253.3(CRB1):c.3408del (p.Cys1137fs)
|
rs1665093194
|
|
NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)
|
|
|
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)
|
rs2125500431
|
|
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
|
|
|
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg)
|
rs2125500491
|
|
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)
|
rs1558138741
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter)
|
rs1665100553
|
|
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)
|
rs794727317
|
|
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
|
|
|
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)
|
rs1553263218
|
|
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.3564T>G (p.His1188Gln)
|
rs376271122
|
|
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter)
|
rs1658671768
|
|
NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs)
|
|
|
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3668_3669delinsA (p.Gln1222_Cys1223insTer)
|
rs1665112963
|
|
NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs)
|
|
|
NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)
|
|
|
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs)
|
rs1366609497
|
|
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)
|
rs886045783
|
|
NM_201253.3(CRB1):c.3749+1G>C
|
|
|
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
|
|
|
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
|
|
|
NM_201253.3(CRB1):c.3847del (p.Cys1283fs)
|
|
|
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)
|
rs1665279435
|
|
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr)
|
rs1665280076
|
|
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
|
|
|
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)
|
rs2125506459
|
|
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)
|
rs1665282478
|
|
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)
|
rs281865174
|
|
NM_201253.3(CRB1):c.3884_3904del (p.Glu1295_Cys1301del)
|
rs2125513549
|
|
NM_201253.3(CRB1):c.3896del (p.Asp1299fs)
|
rs2125513602
|
|
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
|
|
|
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser)
|
rs62635649
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.3961del (p.Cys1321fs)
|
|
|
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter)
|
rs1372774777
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)
|
rs1665487563
|
|
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter)
|
rs137853136
|
|
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC
|
rs1665488161
|
|
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr)
|
rs1665489039
|
|
NM_201253.3(CRB1):c.4005+1G>A
|
rs890453675
|
|
NM_201253.3(CRB1):c.4005+4AGC[3]
|
rs550852869
|
|
NM_201253.3(CRB1):c.4006-1G>T
|
rs752804194
|
|
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)
|
rs1667260204
|
|
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp)
|
rs1667260968
|
|
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)
|
rs1667262233
|
|
NM_201253.3(CRB1):c.410del (p.Pro137fs)
|
rs1558057153
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
|
|
|
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)
|
rs765740058
|
|
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)
|
rs767920858
|
|
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)
|
rs1667269806
|
|
NM_201253.3(CRB1):c.4214del (p.Leu1405fs)
|
rs1667270187
|
|
NM_201253.3(CRB1):c.441_444del (p.Asp148fs)
|
rs1571848688
|
|
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
|
rs1571848744
|
|
NM_201253.3(CRB1):c.456T>A (p.Cys152Ter)
|
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201253.3(CRB1):c.506del (p.Gly169fs)
|
rs1167867158
|
|
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
|
|
|
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter)
|
rs1658692554
|
|
NM_201253.3(CRB1):c.579T>C (p.Asp193=)
|
rs1382054822
|
|
NM_201253.3(CRB1):c.57dup (p.Ile20fs)
|
rs1343680080
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.624T>A (p.Tyr208Ter)
|
rs1658697788
|
|
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
|
|
|
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)
|
rs1658699227
|
|
NM_201253.3(CRB1):c.652+1G>A
|
rs2125304900
|
|
NM_201253.3(CRB1):c.653-1G>A
|
rs760287363
|
|
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs778731851
|
|
NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)
|
|
|
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter)
|
rs1659642763
|
|
NM_201253.3(CRB1):c.70+1G>A
|
rs1237424465
|
|
NM_201253.3(CRB1):c.70+1G>T
|
rs1237424465
|
|
NM_201253.3(CRB1):c.71-2A>G
|
rs1383691293
|
|
NM_201253.3(CRB1):c.712dup (p.Thr238fs)
|
|
|
NM_201253.3(CRB1):c.71delA
|
|
|
NM_201253.3(CRB1):c.721del (p.Asp241fs)
|
|
|
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)
|
rs1659650891
|
|
NM_201253.3(CRB1):c.798_799del (p.Ala267fs)
|
rs2125328494
|
|
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)
|
rs886043587
|
|
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)
|
rs753224594
|
|
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe)
|
rs1460946384
|
|
NM_201253.3(CRB1):c.848+1G>A
|
rs2125328634
|
|
NM_201253.3(CRB1):c.848+2T>C
|
|
|
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg)
|
rs1571877872
|
|
NM_201253.3(CRB1):c.894_895del (p.Cys298_Glu299delinsTer)
|
|
|
NM_201253.3(CRB1):c.918G>A (p.Trp306Ter)
|
|
|
NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr)
|
rs1659844562
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
NM_201253.3(CRB1):c.989-53T>G
|
rs2786098
|
|
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys)
|
rs1658648856
|
|
NM_201253.3(CRB1):c.995_996del (p.Thr332fs)
|
rs1660503192
|
|
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)
|
rs587783015
|
|
NM_201253.3(CRB1):c.998del (p.Gly333fs)
|
rs2125354244
|
|