NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)
|
rs121913302
|
0.00001
|
NM_000321.2(RB1):c.-198G>A
|
rs387906521
|
|
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs)
|
rs1131690845
|
|
NM_000321.2(RB1):c.382_383dupGT
|
|
|
NM_000321.3(RB1):c.1024del (p.Thr342fs)
|
rs587778844
|
|
NM_000321.3(RB1):c.1027del (p.Leu343fs)
|
rs1131690873
|
|
NM_000321.3(RB1):c.1030C>T (p.Gln344Ter)
|
|
|
NM_000321.3(RB1):c.1047_1049+168delinsATCAATAA
|
|
|
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)
|
rs587778829
|
|
NM_000321.3(RB1):c.1064_1065del (p.Arg355fs)
|
rs1131690861
|
|
NM_000321.3(RB1):c.106del (p.Asp36fs)
|
rs1131690913
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1072_1074delinsGG (p.Arg358fs)
|
rs1131690872
|
|
NM_000321.3(RB1):c.1105del (p.Ile369fs)
|
|
|
NM_000321.3(RB1):c.1128-2A>G
|
rs1131690892
|
|
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter)
|
rs1131690846
|
|
NM_000321.3(RB1):c.1158del (p.Met386fs)
|
|
|
NM_000321.3(RB1):c.118del (p.Glu40fs)
|
rs1593412261
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1215+1G>C
|
|
|
NM_000321.3(RB1):c.1215+2T>G
|
rs1060503074
|
|
NM_000321.3(RB1):c.1229del (p.Asn410fs)
|
rs1131690897
|
|
NM_000321.3(RB1):c.1251_1252del (p.Arg418fs)
|
rs1131690889
|
|
NM_000321.3(RB1):c.128dup (p.Leu44fs)
|
|
|
NM_000321.3(RB1):c.1321dup (p.Ile441fs)
|
rs1131690875
|
|
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter)
|
rs1060503079
|
|
NM_000321.3(RB1):c.1333-1G>A
|
rs2138140730
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter)
|
rs1593455621
|
|
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg)
|
rs1131690851
|
|
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
|
|
|
NM_000321.3(RB1):c.137+1G>T
|
rs1131690855
|
|
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter)
|
rs1131690884
|
|
NM_000321.3(RB1):c.137G>A (p.Arg46Lys)
|
|
|
NM_000321.3(RB1):c.1389+1G>A
|
|
|
NM_000321.3(RB1):c.1389+5G>A
|
rs1131690859
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
NM_000321.3(RB1):c.1403T>G (p.Leu468Ter)
|
|
|
NM_000321.3(RB1):c.1421+1del
|
rs1555286576
|
|
NM_000321.3(RB1):c.1422-1G>T
|
|
|
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del)
|
rs587776788
|
|
NM_000321.3(RB1):c.1447del (p.His483fs)
|
rs1131690910
|
|
NM_000321.3(RB1):c.1450_1451del (p.Met484fs)
|
rs1948522792
|
|
NM_000321.3(RB1):c.1450_1459del (p.Met484fs)
|
|
|
NM_000321.3(RB1):c.1498+2T>C
|
|
|
NM_000321.3(RB1):c.1502_1514del (p.Ser501fs)
|
rs1131690856
|
|
NM_000321.3(RB1):c.1531del (p.Asp511fs)
|
|
|
NM_000321.3(RB1):c.1575del (p.Phe526fs)
|
rs1131690876
|
|
NM_000321.3(RB1):c.1590del (p.Lys530_Val531insTer)
|
|
|
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter)
|
rs1593457065
|
|
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)
|
rs1948534542
|
|
NM_000321.3(RB1):c.164del (p.Pro55fs)
|
|
|
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)
|
rs121913303
|
|
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)
|
rs121913304
|
|
NM_000321.3(RB1):c.1695+3A>C
|
rs1131690870
|
|
NM_000321.3(RB1):c.1706del (p.Leu569fs)
|
rs1131690842
|
|
NM_000321.3(RB1):c.1726_1729del (p.Ser576fs)
|
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.1811del (p.Asp604fs)
|
rs1131690893
|
|
NM_000321.3(RB1):c.1814+1G>A
|
|
|
NM_000321.3(RB1):c.1814+2T>G
|
rs1131690899
|
|
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)
|
rs137853297
|
|
NM_000321.3(RB1):c.1818T>G (p.Tyr606Ter)
|
|
|
NM_000321.3(RB1):c.1822del (p.Ser608fs)
|
|
|
NM_000321.3(RB1):c.1853C>G (p.Ser618Ter)
|
|
|
NM_000321.3(RB1):c.1853_1857del (p.Ser618fs)
|
|
|
NM_000321.3(RB1):c.1939_1940del (p.Leu647fs)
|
|
|
NM_000321.3(RB1):c.1946del (p.Leu649fs)
|
|
|
NM_000321.3(RB1):c.1960+5G>C
|
rs587778871
|
|
NM_000321.3(RB1):c.1960G>C (p.Val654Leu)
|
rs483352690
|
|
NM_000321.3(RB1):c.1993del (p.Leu665fs)
|
|
|
NM_000321.3(RB1):c.19dup (p.Arg7fs)
|
rs1131690852
|
|
NM_000321.3(RB1):c.2011_2014del (p.Glu672fs)
|
rs1131690885
|
|
NM_000321.3(RB1):c.2014G>T (p.Glu672Ter)
|
rs1131690903
|
|
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
|
|
|
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter)
|
rs878853949
|
|
NM_000321.3(RB1):c.2055del (p.Gln685fs)
|
rs1131690844
|
|
NM_000321.3(RB1):c.2074_2087del (p.Tyr692fs)
|
|
|
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
|
|
|
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)
|
rs1131690891
|
|
NM_000321.3(RB1):c.2104C>T (p.Gln702Ter)
|
rs1131690865
|
|
NM_000321.3(RB1):c.2105A>G (p.Gln702Arg)
|
rs1131690857
|
|
NM_000321.3(RB1):c.2124del (p.Met708fs)
|
|
|
NM_000321.3(RB1):c.2128_2132del (p.Gly710fs)
|
rs1131690896
|
|
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)
|
rs587778849
|
|
NM_000321.3(RB1):c.219_220del (p.Arg73fs)
|
rs587778862
|
|
NM_000321.3(RB1):c.2210dup (p.Thr738fs)
|
|
|
NM_000321.3(RB1):c.2211G>A (p.Glu737=)
|
rs587776787
|
|
NM_000321.3(RB1):c.2266del (p.Tyr756fs)
|
|
|
NM_000321.3(RB1):c.2287A>T (p.Arg763Ter)
|
|
|
NM_000321.3(RB1):c.2299_2302del (p.Asn767fs)
|
rs1131690894
|
|
NM_000321.3(RB1):c.2325+1G>A
|
rs1131690882
|
|
NM_000321.3(RB1):c.2325+5G>A
|
rs886042249
|
|
NM_000321.3(RB1):c.2346dup (p.Pro783fs)
|
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)
|
rs1593539386
|
|
NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs)
|
rs1131690868
|
|
NM_000321.3(RB1):c.2439T>A (p.Tyr813Ter)
|
rs774744607
|
|
NM_000321.3(RB1):c.2439T>G (p.Tyr813Ter)
|
rs774744607
|
|
NM_000321.3(RB1):c.2465del (p.Pro822fs)
|
rs1131690866
|
|
NM_000321.3(RB1):c.2480dup (p.Arg828fs)
|
|
|
NM_000321.3(RB1):c.2489+1G>A
|
rs764754259
|
|
NM_000321.3(RB1):c.2489+1G>C
|
rs764754259
|
|
NM_000321.3(RB1):c.2496_2505del (p.Ser834fs)
|
|
|
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter)
|
rs1131690906
|
|
NM_000321.3(RB1):c.2513C>A (p.Ser838Ter)
|
rs1131690908
|
|
NM_000321.3(RB1):c.2520+1G>T
|
rs587778850
|
|
NM_000321.3(RB1):c.2520+1del
|
rs587776779
|
|
NM_000321.3(RB1):c.2520+3_2520+6del
|
rs1131690858
|
|
NM_000321.3(RB1):c.2520+5G>C
|
rs1131690881
|
|
NM_000321.3(RB1):c.25del (p.Thr9fs)
|
|
|
NM_000321.3(RB1):c.264+1G>A
|
rs1131690907
|
|
NM_000321.3(RB1):c.277C>T (p.Gln93Ter)
|
rs1131690915
|
|
NM_000321.3(RB1):c.281dup (p.Lys95fs)
|
rs1131690862
|
|
NM_000321.3(RB1):c.297G>A (p.Trp99Ter)
|
rs794727481
|
|
NM_000321.3(RB1):c.334G>T (p.Glu112Ter)
|
|
|
NM_000321.3(RB1):c.371_372del (p.Ile124fs)
|
rs1566186125
|
|
NM_000321.3(RB1):c.373G>T (p.Glu125Ter)
|
rs1952457111
|
|
NM_000321.3(RB1):c.377del (p.Ile126fs)
|
rs2138084130
|
|
NM_000321.3(RB1):c.380+1G>A
|
rs1131690902
|
|
NM_000321.3(RB1):c.434del (p.Asp145fs)
|
rs1131690912
|
|
NM_000321.3(RB1):c.443del (p.Met148fs)
|
rs1131690867
|
|
NM_000321.3(RB1):c.446C>G (p.Ser149Ter)
|
rs587778870
|
|
NM_000321.3(RB1):c.453_454del (p.Leu152fs)
|
|
|
NM_000321.3(RB1):c.496G>T (p.Glu166Ter)
|
rs1131690874
|
|
NM_000321.3(RB1):c.500+1G>T
|
rs1131690880
|
|
NM_000321.3(RB1):c.506del (p.Cys169fs)
|
|
|
NM_000321.3(RB1):c.524del (p.Thr175fs)
|
|
|
NM_000321.3(RB1):c.526_527del (p.Gln176fs)
|
|
|
NM_000321.3(RB1):c.539del (p.Ser179_Ser180insTer)
|
rs1131690871
|
|
NM_000321.3(RB1):c.549del (p.Glu184fs)
|
rs1131690887
|
|
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)
|
rs1555279210
|
|
NM_000321.3(RB1):c.54_79del (p.Glu19fs)
|
rs727504120
|
|
NM_000321.3(RB1):c.54_79dup (p.Pro27fs)
|
|
|
NM_000321.3(RB1):c.55G>T (p.Glu19Ter)
|
|
|
NM_000321.3(RB1):c.56_75dup (p.Pro26fs)
|
|
|
NM_000321.3(RB1):c.607+1G>A
|
rs587776789
|
|
NM_000321.3(RB1):c.607+1G>C
|
rs587776789
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.62del (p.Pro21fs)
|
|
|
NM_000321.3(RB1):c.635del (p.Leu212fs)
|
|
|
NM_000321.3(RB1):c.644C>A (p.Ser215Ter)
|
rs768305224
|
|
NM_000321.3(RB1):c.667del (p.Asp224fs)
|
|
|
NM_000321.3(RB1):c.681del (p.Lys228fs)
|
rs1131690905
|
|
NM_000321.3(RB1):c.702del (p.Leu234fs)
|
rs1131690878
|
|
NM_000321.3(RB1):c.709G>T (p.Glu237Ter)
|
rs1131690904
|
|
NM_000321.3(RB1):c.731_732delinsATC (p.Ile244fs)
|
rs1131690890
|
|
NM_000321.3(RB1):c.735del (p.Ile246fs)
|
rs1131690847
|
|
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)
|
rs1131690863
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000321.3(RB1):c.772_776del (p.Asn258fs)
|
rs1566192530
|
|
NM_000321.3(RB1):c.814del (p.Arg272fs)
|
|
|
NM_000321.3(RB1):c.846del (p.Glu282fs)
|
rs1131690849
|
|
NM_000321.3(RB1):c.862-2A>C
|
rs1131690914
|
|
NM_000321.3(RB1):c.863_864del (p.Val288fs)
|
|
|
NM_000321.3(RB1):c.869del (p.Asn290fs)
|
rs1131690901
|
|
NM_000321.3(RB1):c.940-1G>A
|
rs1131690860
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer)
|
rs1952715820
|
|
NM_000321.3(RB1):c.964G>T (p.Glu322Ter)
|
rs776534331
|
|
NM_000321.3(RB1):c.987del (p.Asp330fs)
|
|
|
NM_000321.3(RB1):c.995del (p.Asp332fs)
|
|
|
NM_000321.3(RB1):c.9_42dup (p.Ala15fs)
|
rs1555279195
|
|