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Protein change
TOM
Add. mut.
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Age
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Notes
Deveault et al. 2011 ERRX 35 BBS9 p.Thr111Leufs*22/p.Thr111Leufs*22 cLOF/cLOF F 20-39 22 1 1 1 1 1 1 1 1 Italian
Khan et al. 2013 ITYJ B IV-2 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF F 20-39 37 1 1 0 1 0 0 0 Pakistani
Schaefer et al. 2013 9V5G II:2 BBS17 c.260T>C/c.778G>T p.Leu87Pro/p.Glu260* MS/cLOF F 20-39 36 1 1 1 1 1 French
Deveault et al. 2011 ERRX 36 BBS9 p.Thr111Leufs*22/p.Thr111Leufs*22 cLOF/cLOF F 20-39 20 1 1 1 1 1 1 1 1 Italian
Khan et al. 2013 ITYJ B IV-3 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 26 1 1 1 1 0 0 0 Pakistani
Schaefer et al. 2013 9V5G II:3 BBS17 c.260T>C/c.778G>T p.Leu87Pro/p.Glu260* MS/cLOF F 20-39 36 1 1 1 1 1 French
Khan et al. 2013 ITYJ B IV-4 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 20 1 1 1 1 0 0 0 Pakistani
Schaefer et al. 2016 JSX2 IV.3 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 18 1 1 0 1 0 0 1 Melanesian
Ece Solmaz et al. 2015 DWMJ 3 BBS1 c.851delA/c.851delA p.Tyr284Serfs*5/p.Tyr284Serfs*5 cLOF/cLOF 10-19 16 1 1 1 1 1 0 0 1 1 Turkish
Khan et al. 2013 ITYJ B IV-5 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 18 1 1 1 1 0 0 0 Pakistani
Schaefer et al. 2016 JSX2 IV.5 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 13 1 1 1 1 0 0 1 Melanesian
Aldahmesh et al. 2014 MZKJ BBS_DG4a BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF M 1 1 1 1 1 0 0 Saudi Arabian
Ece Solmaz et al. 2015 9PAP 5 BBS1 c.1012C>T/c.1012C>T p.Gln338*/p.Gln338* cLOF/cLOF 20-39 20 1 1 1 1 1 1 0 1 1 Turkish
Khan et al. 2013 ITYJ B IV-6 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 13 1 1 1 1 0 0 Pakistani
Scheidecker et al. 2013 SQF2 BBS18 c.173T>G/c.173T>G p.Leu58*/p.Leu58* cLOF/cLOF M 40+ 49 1 1 0 1 0 1 0 Italian
Aldahmesh et al. 2014 MZKJ BBS_DG4b BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF F 1 1 1 1 0 0 Saudi Arabian
Khan et al. 2013 38GY A IV-3 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 20-39 38 1 1 1 0 0 0 0 Pakistani
Aldahmesh et al. 2014 UUT5 BBS_DG1a BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS F 1 1 0 1 1 1 Saudi Arabian
Khan et al. 2013 38GY A IV-4 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 20-39 35 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 3J2E Case3 BBS10 p.Arg95Ser/p.Val707* MS/cLOF F 20-39 25 1 1 1 0 1 0 French
Aldahmesh et al. 2014 UUT5 BBS_DG1b BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS M 1 1 1 1 1 0 1 Saudi Arabian
Ece Solmaz et al. 2015 O9MY 7 BBS10 c.1024_1025insA/c.1024_1025insA p.Ile342Asnfs*20/p.Ile342Asnfs*20 cLOF/cLOF 10-19 15 1 1 0 1 1 0 0 0 1 Turkish
Khan et al. 2013 38GY A IV-6 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 32 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 NG8A Case5 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 40+ 54 1 1 1 0 1 0 French
Aldahmesh et al. 2014 TUBP BBS_DG5a BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 1 1 1 1 0 1 0 1 Saudi Arabian