NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)
|
rs121913302
|
0.00001
|
NG_009009.1:g.154289dupA
|
rs1566233014
|
|
NG_009009.1:g.5168-?_5303+?(2)
|
|
|
NM_000321.3(RB1):c.1021A>T (p.Lys341Ter)
|
rs587778855
|
|
NM_000321.3(RB1):c.1024del (p.Thr342fs)
|
rs587778844
|
|
NM_000321.3(RB1):c.103C>T (p.Gln35Ter)
|
rs587778869
|
|
NM_000321.3(RB1):c.1049+1G>A
|
rs587776782
|
|
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)
|
rs587778829
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.113_115delinsCT (p.Gly38fs)
|
rs886037649
|
|
NM_000321.3(RB1):c.1147dup (p.Gln383fs)
|
rs587778830
|
|
NM_000321.3(RB1):c.1166T>A (p.Leu389Ter)
|
rs587778845
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1216-1G>A
|
rs587778831
|
|
NM_000321.3(RB1):c.1332+1G>A
|
rs587778846
|
|
NM_000321.3(RB1):c.1332+1G>T
|
rs587778846
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1346G>T (p.Gly449Val)
|
rs587778847
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs)
|
rs587778832
|
|
NM_000321.3(RB1):c.1472T>C (p.Leu491Pro)
|
rs587778848
|
|
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.1688G>A (p.Trp563Ter)
|
rs587778863
|
|
NM_000321.3(RB1):c.1695+1G>A
|
rs587778857
|
|
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter)
|
rs587778864
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.1738G>T (p.Glu580Ter)
|
rs587778858
|
|
NM_000321.3(RB1):c.1909C>T (p.Gln637Ter)
|
rs587778833
|
|
NM_000321.3(RB1):c.1925T>A (p.Leu642Ter)
|
rs587778865
|
|
NM_000321.3(RB1):c.1927A>G (p.Lys643Glu)
|
rs587778866
|
|
NM_000321.3(RB1):c.1960+5G>A
|
rs587778871
|
|
NM_000321.3(RB1):c.1961-2A>T
|
rs587778867
|
|
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp)
|
rs587778834
|
|
NM_000321.3(RB1):c.2101G>A (p.Asp701Asn)
|
rs587778859
|
|
NM_000321.3(RB1):c.2107-1G>C
|
rs587778860
|
|
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)
|
rs587778849
|
|
NM_000321.3(RB1):c.217del (p.Arg73fs)
|
rs587778840
|
|
NM_000321.3(RB1):c.2197C>T (p.His733Tyr)
|
rs587778835
|
|
NM_000321.3(RB1):c.219_220del (p.Arg73fs)
|
rs587778862
|
|
NM_000321.3(RB1):c.2209G>T (p.Glu737Ter)
|
rs587778868
|
|
NM_000321.3(RB1):c.2212-13T>A
|
rs2138344431
|
|
NM_000321.3(RB1):c.2228_2231dup (p.Lys745fs)
|
rs587778836
|
|
NM_000321.3(RB1):c.2247T>A (p.Tyr749Ter)
|
rs587778861
|
|
NM_000321.3(RB1):c.227_228dup (p.Thr77Ter)
|
rs587778824
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2370C>G (p.Tyr790Ter)
|
rs794727372
|
|
NM_000321.3(RB1):c.2453del (p.Gly818fs)
|
rs587778837
|
|
NM_000321.3(RB1):c.2490-1G>A
|
rs587778838
|
|
NM_000321.3(RB1):c.2520+1G>A
|
rs587778850
|
|
NM_000321.3(RB1):c.2525dup (p.Ser842_Glu843insTer)
|
rs587778851
|
|
NM_000321.3(RB1):c.2663+2T>C
|
rs587778839
|
|
NM_000321.3(RB1):c.305_306del (p.Cys102fs)
|
rs587778825
|
|
NM_000321.3(RB1):c.409G>T (p.Glu137Ter)
|
rs121913296
|
|
NM_000321.3(RB1):c.438_441del (p.Asn146fs)
|
rs587778841
|
|
NM_000321.3(RB1):c.446C>G (p.Ser149Ter)
|
rs587778870
|
|
NM_000321.3(RB1):c.463dup (p.Tyr155fs)
|
rs587778854
|
|
NM_000321.3(RB1):c.508G>T (p.Glu170Ter)
|
rs587778826
|
|
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del)
|
rs587778823
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000321.3(RB1):c.795del (p.Lys265fs)
|
rs587778827
|
|
NM_000321.3(RB1):c.884dup (p.Asn295fs)
|
rs587778828
|
|
NM_000321.3(RB1):c.937G>T (p.Glu313Ter)
|
rs587778843
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|