Items: 601 - 625 from 899
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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:2 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 10-19 10 1 1 Netherland
van Huet et al. 2013 KOTG B-V:7 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 20-39 26 1 0 1 0 0 0 NA
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
Lindstrand et al. 2016 FQTJ DM034-004 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 10 1 1 1 0 1 0 NA
Lindstrand et al. 2016 ZFSG KK11-04 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 17 1 1 1 1 1 Saudi Arabian
Fattahi et al. 2014 KQKK 35201 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 1 1 1 0 1 1 Iranian
Lindstrand et al. 2016 MJ9E AR400-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF F 10-19 11 1 1 1 1 1 NA
Fattahi et al. 2014 GEMF 36000 BBS12 c.2019del/c.2019del p.Trp673Cysfs*7/p.Trp673Cysfs*7 cLOF/cLOF 1 1 1 0 1 0 Iranian
Lindstrand et al. 2016 ZFQ9 AR800-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF M 0-9 5 1 1 1 1 1 NA
Fattahi et al. 2014 LJ5D 37709 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 0 1 1 0 1 Iranian
Lindstrand et al. 2016 2JO8 44/3 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
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 M 1 1 1 1 1 1 Israel
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Fattahi et al. 2014 VO8X 34754 BBS2 c.1003C>T/c.1003C>T p.Gln335*/p.Gln335* cLOF/cLOF 1 1 1 1 1 Iranian
White et al. 2006 TGDP Patient A BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 20-39 24 1 1 1 1 1 0 0 1 Omani
Fattahi et al. 2014 2X8V 34885 BBS2 c.471G>C/c.471G>C p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF 1 1 1 1 0 Iranian
White et al. 2006 TGDP Patient B BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 10-19 13 1 1 0 1 1 0 0 1 Omani
Fattahi et al. 2014 Y3OD 38498 BBS2 c.256_278dup23/c.256_278dup23 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF 0 1 1 1 1 1 Iranian
White et al. 2006 TGDP Patient C BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 Omani
Fattahi et al. 2014 WJ64 38931 BBS2 c.1910+1G>T/c.1910+1G>T splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
White et al. 2006 TGDP Patient D BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF F 0-9 6 1 1 1 1 1 0 0 1 Omani
Maria et al. 2016 AOD6 F01 IV:2 BBS3 c.534A>G/c.534A>G p.Gln178Gln (splice)/p.Gln178Gln (splice) cLOF/cLOF M 20-39 32 1 1 0 1 1 Pakistani
Yamamura et al. 2017 V9I3 patient 1 BBS16 c.845_848delTTTG/c.845_848delTTTG fs/fs cLOF/cLOF F 0-9 3 1 0 0 1 1 Japanese
Fattahi et al. 2014 WNW3 40568 BBS4 c.77_220del/c.77_220del p.Pro27_Ala74del/p.Pro27_Ala74del cLOF/cLOF 1 1 1 1 1 1 Iranian
Maria et al. 2016 AOD6 F01 IV:3 BBS3 c.534A>G/c.534A>G p.Gln178Gln (splice)/p.Gln178Gln (splice) cLOF/cLOF M 40+ 40 1 1 0 1 0 1 Pakistani
Yamamura et al. 2017 QFG2 patient 2 BBS6 c.986-1G>A/c.986-1G>A splice/splice cLOF/cLOF F 20-39 27 1 1 1 1 1 1 0 Japanese
Bennouna-Greene et al. 2011 L1UE 01.06.06 BBS10 p.Cys91fs*5/p.Leu348fs*13 cLOF/cLOF M 20-39 28 1 1 0 French