Items: 776 - 800 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
Lindstrand et al. 2016 C6Y3 KK047-05 BBS2 deletion of exons 8-15/deletion of exons 8-15 cLOF/cLOF M 0-9 9 1 1 1 1 1 NA
Lindstrand et al. 2016 I6N5 RC2-03 BBS2 c.367A>G/c.367A>G p.Ile123Val/p.Ile123Val MS/MS
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 M 0-9 6 1 0 1 1 1 1 Latino
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Fan et al. 2004 GC3Y PID 9 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS
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 F 40+ 62 1 1 0 1 1 Newfoundland
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
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
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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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
Lindstrand et al. 2016 1WD9 AR634-04 BBS7 deletion of exons 16-17/p.Gln293Pro cLOF/MS M 10-19 15 1 1 0 1 1 NA
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
Maria et al. 2016 M2A5 F05 V:2 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS M 20-39 20 1 1 0 1 1 0 Pakistani
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
Maria et al. 2016 M2A5 F05 V:4 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS F 20-39 25 1 1 0 1 0 Pakistani
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
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
Fattahi et al. 2014 O03G 40302 BBS7 c.1342_1346delCAGGC/c.1443T>A p.Gln448Argfs*13/p.Cys481* cLOF/cLOF 1 1 1 0 1 1 1 Iranian
Maria et al. 2016 B9HM F02 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 45 1 0 0 1 1 1 Pakistani
Yang et al. 2008 TD84 IV:2 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 37 1 1 1 1 1 1 1 Chinese
Fattahi et al. 2014 4CJ1 34792 BBS9 c.1789+1G>A/c.1789+1G>A splice/splice cLOF/cLOF 1 1 1 0 1 0 1 Iranian
Maria et al. 2016 B9HM F02 IV:I BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 47 1 0 1 1 1 1 1 Pakistani
Yang et al. 2008 TD84 IV:4 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 32 1 1 1 1 1 1 1 Chinese