Items: 876 - 899 from 899
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Source
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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
Riazuddin et al. 2010 G8FZ V:7 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 21 1 0 0 0 0 0 Pakistani
Harville et al. 2010 E9UF A2827-II1(AR74) BBS8 c.IVS10+2_4delTGC/c.IVS10+2_4delTGC splice/splice cLOF/cLOF 1 1 1 1 1 1 Pakistani
Harville et al. 2010 E9UF A2827-II2 (AR74) BBS8 c.IVS10+2_4delTGC/c.IVS10+2_4delTGC splice/splice cLOF/cLOF 1 1 1 1 1 1 Pakistani
Kerr et al. 2015 YWXA 19e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 17 1 1 1 1! 0 1 Pakistani
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Kerr et al. 2015 YWXA 20e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 19 1 1 1 1 0 0 1 1 Pakistani
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Harville et al. 2010 OWHJ A2885-II1 (AKK65) BBS1 c.IVS2+1G>A/c.IVS2+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Harville et al. 2010 OWHJ A2885-II2 (AKK65) BBS1 c.IVS2+1G>A/c.IVS2+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Janssen et al. 2011 F9UG AR124 (A2832) -3 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Janssen et al. 2011 F9UG AR124 (A2832)-4 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Janssen et al. 2011 4PPS KK44 (A2884) -8 BBS4 c.IVS3-2A>G/c.IVS3-2A>G splice/splice cLOF/cLOF 1 1 1 1 Saudi Arabian
Harville et al. 2010 JVOM A2008-II1 BBS4 c.IVS3-2A>G/c.IVS3-2A>G splice/splice cLOF/cLOF 1 1 1 1 0 USA
Kerr et al. 2015 8WRO 14d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF F 10-19 18 1 1 1 1 0 0 1 1! 1 Iraqi
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Kerr et al. 2015 8WRO 15d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF M 10-19 16 1 1 1 1 0 0 1 0 1 Iraqi
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Harville et al. 2010 ENNE A2023-II1 BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF 1 1 1 1 1 1 1 Turkish
Janssen et al. 2011 X0N3 PB206 (A2024) 0 BBS1 c.IVS5-1G>C/c.IVS5-1G>C splice/splice cLOF/cLOF 1 1 1 1 1 1 Turkish
Abu-Safieh et al. 2012 Y63A BBS-F032-A BBS13 Exon1loss/ loss of exon 1/loss of exon 1 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Riise et al. 2002 DLS1 IX-1 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 30 1 1 1 0 1 0 Scandinavian
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Riise et al. 2002 DLS1 IX-2 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 32 1 1 1 0 1 0 Scandinavian
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Shaheen et al. 2016 NBM7 F-13-19 BBS4 r.118_261del/r.118_373del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 09XV F-81-143 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 09XV F-81-144 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 09XV F-81-145 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 JBBQ F-82-146 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Sathya Priya et al. 2015 X7SU BBS-L BBS9 r.618_702del/r.618_702del p.Tyr207Trpfs*4/p.Tyr207Trpfs*4 cLOF/cLOF 1 1 1 1 1 0 1 Indian