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Add. mut.
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Notes
Billingsley et al. 2012 MESS 59 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF 10-19 13 1 1 0 1! 0 1 1 1 1 East Indian
González‐del Pozo et al. 2013 7KIL II:2 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS F 1 0 1 1 0 0 0 0 Spanish
Otto et al. 2010 AZ5O NK-F1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482fs*12/p.Asp543fs*24 cLOF/cLOF 1 1 1 1 India
González‐del Pozo et al. 2013 7KIL II:4 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS
[]
 M 1 1 1 1 0 1 0 0 Spanish
Otto et al. 2010 IDME SS23/A1365_21 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
González‐del Pozo et al. 2013 7KIL II:5 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS M 1 1 1 1 0 0 0 0 Spanish
Otto et al. 2010 IDME SS23/A1365_22 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Pawlik et al. 2010 RNS3 IV-2 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 30 1 0 1 0 0 0 0 0 0 Pakistani
Harville et al. 2010 CCK1 A2876-II1(AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 0 0 0 1 0 1 Europe
Pawlik et al. 2010 RNS3 IV-3 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 27 1 0 1 0 0 0 0 0 0 Pakistani
Harville et al. 2010 CCK1 A2876-II2 (AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 1 0 1 Europe
Pawlik et al. 2010 RNS3 IV-9 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 10-19 19 1 0 1 0 0 0 0 0 0 Pakistani
Harville et al. 2010 2RC7 A2880-II1 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 0 1 1 Europe
Pereiro et al. 2010 VJ0Y M250 II.3 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Pereiro et al. 2010 VJ0Y M250 II.6 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
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
Pereiro et al. 2010 CA0L RP1011 II.1 BBS12 p.Gly540Asp/p.Gly540Asp MS/MS 1 1 1 1 1 Caucasian
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
Pereiro et al. 2010 0KMP M446 II.1 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 0 0 Caucasian
Harville et al. 2010 2CSL A2020-II1 BBS10 c.530A>G/c.530A>G p.Tyr177Cys/p.Tyr177Cys MS/MS 1 1 1 1 1 0 Turkish
Pereiro et al. 2010 0KMP M446 II.2 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 1 0 Caucasian
Harville et al. 2010 WRRU A2003-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 Pakistani
Pereiro et al. 2010 EO6P B17 II.1 BBS6 p.Leu454Pro/p.Leu454Pro MS/MS 1 1 1 1 1 Caucasian
Harville et al. 2010 S9R9 A2015-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 Pakistani
Pereiro et al. 2010 M9QZ M79 II.2 BBS6 p.Gly250Arg/p.Gly250Arg MS/MS 1 1 1 1 Caucasian