Items: 426 - 450 from 899
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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
Ece Solmaz et al. 2015 6FB1 2 BBS1 c.48-3C>G/c.48-3C>G splice/splice cLOF/cLOF 0-9 2,5 0 0 1 1 1 1 0 0 1 Turkish
Ece Solmaz et al. 2015 0GHE 12 BBS10 c.1547delC/c.1547delC p.Thr516Asnfs*8/p.Thr516Asnfs*8 cLOF/cLOF 0-9 6 1 1 1 1 1 1 0 1 1 Turkish
Ece Solmaz et al. 2015 VITC 10 BBS2 c.263delG/c.263delG p.Gly88Alafs*6/p.Gly88Alafs*6 cLOF/cLOF 0-9 8 1 1 1 1 1 1 1 0 1 Turkish
Ece Solmaz et al. 2015 AYQT 6 BBS4 c.406-2A>G/c.406-2A>G splice/splice cLOF/cLOF 0-9 8 1 1 0 1 0 0 0 0 1 Turkish
Khan et al. 2016 (a) 4A6K BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 0-9 6 1 1 1 0 0 0 Saudi Arabian
Suspitsin et al.2015 8ANZ II.4 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF M 0-9 7 1 1 1 1 1 Russian
Suspitsin et al.2015 8ANZ II.6 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF F 0-9 1,5 1 1 Russian
Ece Solmaz et al. 2015 COR8 13 BBS9 c.102_112+2delAAATGGACAAGGT/c.102_112+2delAAATGGACAAGGT p.Asn35*/p.Asn35* cLOF/cLOF 0-9 0,6 0 1 1 0 0 0 0 0 0 Turkish
Leitch et al. 2008 I7QX BBS100-05 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
[]
 F 0-9 7 1 1 1 1 0 1 Middle Eastern
Leitch et al. 2008 VPTU L398-03 BBS10 p.Ser73fs*19/p.Ser73fs*19 cLOF/cLOF
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 M 0-9 9 1 1 1 1 1 0 1 Lebanese
Leitch et al. 2008 RXWS PB215-04 BBS13 p.Cys492Trp/p.Phe371del MS/MS M 0-9 2 0 1 1 0 0 0 Turkish
Leitch et al. 2008 7AAP KK20-04 BBS9 c.2804G>A/c.2804G>A splice/splice cLOF/cLOF
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 M 0-9 5 1 1 1 1 1 1 0 1 Saudi Arabian
Badano et al. 2003 NKEI AR768-03 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF F 0-9 9 1 0 0 1 Northern European
Badano et al. 2003 NKEI AR768-04 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF
[]
 F 0-9 7 1 1 1 1 Northern European
Ullah et al. 2017 VYZR B V-1 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 0-9 6 1 1 1 0 Pakistani
Lindstrand et al. 2016 272G AR380-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 0-9 9 1 1 1 1 0 0 NA
Lindstrand et al. 2016 GW00 AR888-03 BBS1 c.1645G>T/deletion of exons 1-11 p.Glu549*/deletion of exons 1-11 cLOF/cLOF
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 M 0-9 4 1 1 1 1 1 1 Latino
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Lindstrand et al. 2016 KOBZ AR883-04 BBS10 c.2119_2120delGT/c.2118_2119delTG p.Val707*/p.Val707fs* cLOF/cLOF
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 M 0-9 4 1 1 1 1 1 NA
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
[]
 M 0-9 6 1 0 1 1 1 1 Latino
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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
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
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
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
Yoon et al. 2014 J447 brother BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 0-9 6,5 1 1 0 1 1 Korean