Items: 826 - 850 from 899
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Source
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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
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
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
Harville et al. 2010 J9M7 A2025-II1 BBS2 c.68G>C/c.68G>C p.Arg23Pro/p.Arg23Pro MS/MS 1 1 1 0 1 Turkish
Harville et al. 2010 SRNJ A2005-II1 BBS7 c.688T>C/c.688T>C p.Trp320Arg/p.Trp320Arg MS/MS 0 1 1 1 1 1 Turkish
Harville et al. 2010 WDU9 A2875-II1 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 1 1 1 Europe
Harville et al. 2010 WDU9 A2875-II2 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 Europe
Harville et al. 2010 6FMK A2889-II1 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 0 Israel Arab
Harville et al. 2010 6FMK A2889-II2 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 1 1 Israel Arab
Hjortshoj et al. 2010 VNHI P41 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS
[]
 M 0-9 7 1 1 1 1 1 1 1 Scandinavian
Bujakowska et al. 2015 L077 Family 2, II.1 BBS20 c.4815T>G/c.4815T>G p.Asp1605Glu/p.Asp1605Glu MS/MS 20-39 33 1 0 0 0 White European
Sathya Priya et al. 2015 FXNB BBS-C BBS10 c.1660G>A/c.1660G>A p.Gly401Glu/p.Gly401Glu MS/MS 1 1 1 1 0 1 Indian
Castro-Sanchez et al. 2015 SFDV B164 (463) BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 0 0 0 1 1 1 Spanish
Castro-Sanchez et al. 2015 0ZFK B260 (1476) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 46 1 0 1 0 1 0 0 1 Spanish
Sathya Priya et al. 2015 AF1K BBS-Q BBS11 c.722A>G/c.722A>G p.Tyr241Cys/p.Tyr241Cys MS/MS 1 1 1 0 1 0 Indian
Castro-Sanchez et al. 2015 LX4R GBB23 (2128)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 F 40+ 51 1 1 1 1 1 1 Spanish
Sathya Priya et al. 2015 MAED BBS-J BBS12 c.704C>G/c.704C>G p.Pro108Arg/p.Pro108Arg MS/MS 1 1 1 0 0 1 Indian
Castro-Sanchez et al. 2015 LX4R GBB23 (2129)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 59 1 1 1 1 1 1 Spanish
Hulleman et al. 2016 E4HN ID SIO101 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS M 10-19 18 1 0 1 0 0 0 0 0 India
Sathya Priya et al. 2015 PBI3 BBS-F BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 1 0 Indian
Hulleman et al. 2016 E4HN ID SIO102 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS F 10-19 13 1 0 1 0 0 0 0 0 India
Sathya Priya et al. 2015 9FSA BBS-U BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 0 1 0 1 Indian
Castro-Sanchez et al. 2015 3KOY GBB6 (110) BBS1 p.Met390Arg/p.Leu288Arg MS/MS M 20-39 38 1 1 1 0 0 Spanish