Items: 326 - 350 from 899
CSV export Reset filters
Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Castro-Sanchez et al. 2015 M6S4 GBB27 (I)‡ BBS1 p.Met390Arg/p.His504fs*48 MS/cLOF M 10-19 17 1 1 0 1 0 0 0 Spanish
Castro-Sanchez et al. 2015 M6S4 GBB27 (II)‡ BBS1 p.Met390Arg/p.His504fs*48 MS/cLOF F 0-9 3 1 1 1 1 0 0 0 1 Spanish
Chaki et al. 2011 CUV8 A2029-21 BBS14 c.1189G>A/c.5668G>T p.Gly397Ser/p.Gly1890* MS/cLOF 1 1 1 0 NA
Castro-Sanchez et al. 2015 QGJM M713-(336)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 20-39 35 1 1 0 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 QGJM M713-(337)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 20-39 33 1 1 0 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 IRUP RP1054 (249)§ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 29 1 0 1 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 VS17 RP1193 (747) BBS1 p.Met390Arg/p.Arg146* MS/cLOF M 20-39 34 1 1 0 1 0 Spanish
Castro-Sanchez et al. 2015 U1ZZ RP1378 (24)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF F 20-39 34 1 1 0 0 0 Spanish
Castro-Sanchez et al. 2015 U1ZZ RP1378 (858)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF M 40+ 41 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 BV7K RP294 (4352)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 38 1 1 1 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 BV7K RP294 (4707)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 31 1 1 1 1 0 0 0 Spanish
Castro-Sanchez et al. 2015 1E9W B182 (910) BBS10 p.Val331Ala/p.Leu533Leufs*21 MS/cLOF M 40+ 48 1 1 1 1 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 4SJL 81 BBS12 p.Leu88Arg/p.Asn461Lysfs*10 MS/cLOF F 10-19 14 1 1 1 0 1 1 0 1 1! Spanish
[]
Castro-Sanchez et al. 2015 NKMZ 164 BBS12 p.Gly539Asp/p.Pro632Phefs*7 MS/cLOF M 40+ 50 1 1 1 1 1! 1 0 1 1! Spanish
[]
Janssen et al. 2011 JOFV AR61 (A2826)-5 BBS1 c.223_224delCT/c.616T>G p.Leu75fs*23/p.Leu206Val MS/cLOF 1 1 1 1 0 0 N. European
Davies et al. 2018 GVB4 BBS004 BBS1 p.Met390Arg/splice MS/cLOF M 20-39 20-29 1 1 0 1 0 0 0 White European
Davies et al. 2018 PHRO BBS006 BBS1 p.Met390Arg/p.Gly73* MS/cLOF M 40+ 40-49 1 1 1 1 1 0 0 White European
Janssen et al. 2011 WUGA A1885 0 BBS2 c.823C>T/c.1895G>C p.Arg275*/p.Arg632Pro cLOF/MS 1 0 0 1 0 USA
Deveault et al. 2011 32AO 79 BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS F 10-19 18 1 1 0 0 0 British
Deveault et al. 2011 32AO 80 BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS
[]
 F 10-19 15 1 1 1 0 0 British
Deveault et al. 2011 7233 74 BBS10 p.Cys91Leufs*5/p.Leu414Ser cLOF/MS M 10-19 18 1 1 1 0 1 0 1 British/Canadian/French/German
Deveault et al. 2011 FKM6 138 BBS10 c.197+1G>T/ splice/p.Leu600Ser cLOF/MS M 10-19 14 1 0 1 0 0 1 Mexican/Norwegian/Danish
Deveault et al. 2011 65LF 69 BBS2 p.Arg622*/p.Ala136Pro cLOF/MS F 0-9 7 1 1 1 1 1 1 South African Black/European/Asian
Kerr et al. 2015 KV2V 2 BBS1 p.Met242Argfs*83/p.Met390Arg cLOF/MS
[]
 F 20-39 29 1 1 1 1 0 0 0 1 English/Scottish/German/Iceland
[]
Shin et al. 2015 50Z6 II:1 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 28 1 1 0 1 0 1 1 0 1 Korean