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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
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Notes
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
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
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
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
Khan et al. 2013 38GY A IV-7 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 26 1 1 1 0 0 0 0 Pakistani
Khan et al. 2013 38GY A V-2 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 19 1 1 1 0 0 0 0 Pakistani
Khan et al. 2013 38GY A V-3 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 10-19 16 1 1 1 0 0 0 Pakistani
Khan et al. 2013 38GY A V-4 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 12 1 0 1 0 0 0 Pakistani
Khan et al. 2016 (b) OZLS IV-4 BBS9 c.299delC/c.299delC p.Ser100Leufs*24/p.Ser100Leufs*24 cLOF/cLOF M 20-39 20 1 1 1 1 0 1 0 0 1 Pakistani
Khan et al. 2016 (b) OZLS Iv-5 BBS9 c.299delC/c.299delC p.Ser100Leufs*24/p.Ser100Leufs*24 cLOF/cLOF F 10-19 18 1 1 1 1 0 1 0 1 Pakistani
Ullah et al. 2017 AFA6 D V-1 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 AFA6 D V-2 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 14 1 1 1 1 1 1 Pakistani
Ullah et al. 2017 8R4R E III-7 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF F 20-39 38 1 1 1 1 0 1 Pakistani
Ullah et al. 2017 8R4R E IV-3 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF M 10-19 17 1 1 1 1 1 1 Pakistani
Ullah et al. 2017 8R4R E IV-4 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF M 10-19 15 1 1 1 1 1 1 Pakistani
Ullah et al. 2017 2AEI A IV-3 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 20-39 21 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 2AEI A IV-4 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 10-19 15 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 2AEI A IV-5 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 10-19 12 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 VYZR B IV-2 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 17 1 0 1 0 1 0 Pakistani
Ullah et al. 2017 VYZR B IV-4 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 16 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 VYZR B IV-7 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 10 1 1 1 1 1 0 Pakistani
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
Ullah et al. 2017 D8UI C IV-1 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 13 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 D8UI C IV-2 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 12 1 1 1 1 1 Pakistani
Ullah et al. 2017 D8UI C IV-6 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS F 10-19 10 1 1 1 1 0 Pakistani