NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)
|
rs587778640
|
0.00004
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000321.3(RB1):c.1206C>T (p.Ser402=)
|
rs752679968
|
0.00001
|
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)
|
rs121913302
|
0.00001
|
NC_000013.10:g.(?_48953724)_(48955585_?)del
|
|
|
NC_000013.11:g.(?_48379594)_(48381443_?)del
|
|
|
NC_000013.11:g.(?_48452979)_(48465378_?)dup
|
|
|
NC_000013.11:g.(?_48452983)_(48465378_?)dup
|
|
|
NC_000013.11:g.48303714_48303721del
|
rs2138025968
|
|
NM_000321.3(RB1):c.1002del (p.Arg334fs)
|
rs1593448449
|
|
NM_000321.3(RB1):c.1049+1G>A
|
rs587776782
|
|
NM_000321.3(RB1):c.1049+1G>T
|
rs587776782
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1199T>C (p.Leu400Pro)
|
rs2138131298
|
|
NM_000321.3(RB1):c.1215+5G>A
|
|
|
NM_000321.3(RB1):c.1331A>C (p.Gln444Pro)
|
rs2138136810
|
|
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
|
|
|
NM_000321.3(RB1):c.138-1G>A
|
rs1593414337
|
|
NM_000321.3(RB1):c.1389+4A>C
|
rs1131690879
|
|
NM_000321.3(RB1):c.1389+5G>C
|
rs1131690859
|
|
NM_000321.3(RB1):c.1390-2A>G
|
rs1555286568
|
|
NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs)
|
rs1555286570
|
|
NM_000321.3(RB1):c.1411C>T (p.Gln471Ter)
|
rs1354030520
|
|
NM_000321.3(RB1):c.1419del (p.Phe473fs)
|
rs1555286573
|
|
NM_000321.3(RB1):c.1421+12_1421+32del
|
rs587781256
|
|
NM_000321.3(RB1):c.1421+1G>C
|
rs1131690886
|
|
NM_000321.3(RB1):c.1421+1G>T
|
|
|
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)
|
rs1555286575
|
|
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr)
|
rs1131690877
|
|
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr)
|
rs201458896
|
|
NM_000321.3(RB1):c.1498+1G>A
|
rs1131690909
|
|
NM_000321.3(RB1):c.1498+2T>G
|
rs1948523741
|
|
NM_000321.3(RB1):c.1519G>C (p.Asp507His)
|
rs2138144909
|
|
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg)
|
rs1948534047
|
|
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+5G>A
|
|
|
NM_000321.3(RB1):c.1696-2A>G
|
rs1593529868
|
|
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu)
|
rs137853292
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.1960+5G>A
|
rs587778871
|
|
NM_000321.3(RB1):c.1960G>A (p.Val654Met)
|
rs483352690
|
|
NM_000321.3(RB1):c.1961T>A (p.Val654Glu)
|
rs769113950
|
|
NM_000321.3(RB1):c.1963dup (p.Tyr655fs)
|
rs2138335800
|
|
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys)
|
rs774196937
|
|
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg)
|
rs483352689
|
|
NM_000321.3(RB1):c.2084T>A (p.Met695Lys)
|
|
|
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)
|
rs1131690891
|
|
NM_000321.3(RB1):c.2107-1G>A
|
rs587778860
|
|
NM_000321.3(RB1):c.2117G>T (p.Cys706Phe)
|
rs121913295
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)
|
|
|
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)
|
rs121913297
|
|
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser)
|
rs1949430890
|
|
NM_000321.3(RB1):c.2325+1G>C
|
rs1131690882
|
|
NM_000321.3(RB1):c.2325+2T>G
|
|
|
NM_000321.3(RB1):c.2325+5G>C
|
|
|
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
|
|
|
NM_000321.3(RB1):c.2490-1530_*109del
|
|
|
NM_000321.3(RB1):c.2490-1G>C
|
|
|
NM_000321.3(RB1):c.2490-28T>G
|
|
|
NM_000321.3(RB1):c.2520+4A>G
|
rs1949484627
|
|
NM_000321.3(RB1):c.2520+5G>A
|
rs1131690881
|
|
NM_000321.3(RB1):c.2520+6T>C
|
rs2138354759
|
|
NM_000321.3(RB1):c.264+5G>A
|
rs1131690853
|
|
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn)
|
rs1555295354
|
|
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)
|
rs750136284
|
|
NM_000321.3(RB1):c.277C>T (p.Gln93Ter)
|
rs1131690915
|
|
NM_000321.3(RB1):c.32_63del (p.Ala11fs)
|
rs1593411974
|
|
NM_000321.3(RB1):c.335_339del (p.Glu112fs)
|
rs1064795438
|
|
NM_000321.3(RB1):c.373G>T (p.Glu125Ter)
|
rs1952457111
|
|
NM_000321.3(RB1):c.380G>A (p.Ser127Asn)
|
rs1131690843
|
|
NM_000321.3(RB1):c.380G>C (p.Ser127Thr)
|
rs1131690843
|
|
NM_000321.3(RB1):c.380G>T (p.Ser127Ile)
|
rs1131690843
|
|
NM_000321.3(RB1):c.381-1G>A
|
rs1566186836
|
|
NM_000321.3(RB1):c.381-2A>T
|
rs1952480014
|
|
NM_000321.3(RB1):c.402dup (p.Leu135fs)
|
|
|
NM_000321.3(RB1):c.409G>T (p.Glu137Ter)
|
rs121913296
|
|
NM_000321.3(RB1):c.501-2A>G
|
|
|
NM_000321.3(RB1):c.534_539+5del
|
|
|
NM_000321.3(RB1):c.539+1G>A
|
rs1566187856
|
|
NM_000321.3(RB1):c.539+1G>C
|
|
|
NM_000321.3(RB1):c.539+4A>G
|
|
|
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)
|
rs1555279210
|
|
NM_000321.3(RB1):c.596T>A (p.Leu199Ter)
|
rs121913298
|
|
NM_000321.3(RB1):c.607+2dup
|
rs1131690895
|
|
NM_000321.3(RB1):c.652T>G (p.Leu218Val)
|
rs1566191596
|
|
NM_000321.3(RB1):c.718+5G>T
|
rs1131690848
|
|
NM_000321.3(RB1):c.719-1_719delinsAG
|
rs2138112061
|
|
NM_000321.3(RB1):c.719-2A>T
|
rs1952654925
|
|
NM_000321.3(RB1):c.857A>G (p.Asp286Gly)
|
rs1131690864
|
|
NM_000321.3(RB1):c.861+2T>C
|
|
|
NM_000321.3(RB1):c.939G>A (p.Glu313=)
|
rs2138116702
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000321.3:c.2265_2343delinsAT
|
|
|