BBS Table

Items: 451 - 475 from 899 CSV export Reset filters
Source	Family	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
Abu Safieh et al. 2010 Abu-Safieh et al. 2012 Agha et al. 2013 Ajmal et al. 2013 Al-Hamed et al. 2014 Alazami et al. 2012 Aldahmesh et al. 2014 Azari et al. 2006 Badano et al. 2003 Baker et al. 2010 Bee et al. 2015 Bennouna-Greene et al. 2011 Billingsley et al. 2010 Billingsley et al. 2012 Branfield Day et al. 2015 Braun et al. 2014 Bujakowska et al. 2015 Castro-Sanchez et al. 2015 Castro-Sanchez et al. 2017 Chaki et al. 2011 Cox et al. 2012 Davies et al. 2018 Deveault et al. 2011 Ece Solmaz et al. 2015 Esposito et al. 2017 Estrada-Cuzcano et al. 2012 (a) Estrada-Cuzcano et al. 2012 (b) Fan et al. 2004 Fattahi et al. 2014 Fedick et al. 2013 Frank et al. 2007 Gerth et al. 2008 Ghadami et al. 2000 González‐del Pozo et al. 2013 Harville et al. 2010 Heon et al. 2016 Hjortshoj et al. 2009 Hjortshoj et al. 2010 Hulleman et al. 2016 Iannaccone et al. 2005 Innes et al. 2010 Iurian et al. 2015 Janssen et al. 2011 Kamme et al. 2016 Katsanis et al. 2000 Katsanis et al. 2001 Kerr et al. 2015 Khan et al. 2013 Khan et al. 2016 (a) Khan et al. 2016 (b) Laurier et al. 2006 Leitch et al. 2008 Lim et al. 2014 Lindstrand et al. 2014 Lindstrand et al. 2016 M'hamdi et al. 2013 Maria et al. 2016 Marion et al. 2012 Otto et al. 2010 Pawlik et al. 2010 Pereiro et al. 2010 Phelps et al. 2017 Qi et al. 2017 Rahner et al. 2016 Reiner et al. 2018 Riazuddin et al. 2010 Riise et al. 2002 Sathya Priya et al. 2015 Schaefer et al. 2011(a) Schaefer et al. 2011(b) Schaefer et al. 2013 Schaefer et al. 2016 Scheidecker et al. 2013 Scheidecker et al. 2015 Shaheen et al. 2016 Shin et al. 2015 Suspitsin et al.2015 Suzuki et al. 2016 Ullah et al. 2017 van Huet et al. 2013 White et al. 2006 Yamamura et al. 2017 Yang et al. 2008 Yoon et al. 2014 Young et al. 1998	00OK 02YS 03JU 063P 09XV 0AUW 0DJ3 0EMR 0FX4 0GHE 0HCQ 0JE6 0KMP 0MN1 0OE4 0P3E 0Q4M 0QQE 0YU0 0ZCC 0ZFK 0ZHU 14M0 18IG 1E9W 1GW6 1NLX 1PLE 1R6I 1RCS 1U6N 1WD9 1YH2 272G 2AEI 2CSL 2FSK 2JO8 2KMJ 2RC7 2S6X 2X8V 2XE6 2YSJ 2ZHF 307E 32AO 38GY 3AJL 3DQF 3J2E 3JWE 3KOY 3LKE 3MZE 3PNW 3TCL 3VCU 40IX 42P3 42YK 48D6 4A6K 4CJ1 4DOC 4HRZ 4HTC 4LAO 4P7U 4PPS 4RJW 4SJL 4YDB 50Z6 51M2 53FP 58IU 5AB3 5J36 5JXT 5LKL 5M4H 5NJD 5UL5 5XR9 5ZO2 65LF 65UG 65XJ 6FB1 6FMK 6HZB 6RJ4 6S11 6SEB 6TP3 6XEU 7233 73V9 75UO 799M 7AAP 7E5A 7GBT 7H0X 7J4Q 7KIL 7KX0 7ZKJ 7ZYG 80NL 81EN 87BS 8ANZ 8BCA 8HPX 8JNZ 8ODK 8PK6 8R4R 8WRO 8Y4G 8ZLD 9FSA 9FZ4 9H7D 9JDZ 9N0W 9PAP 9QNU 9SFS 9V5G 9VM7 9WGR A60R A73A AF1K AFA6 AHHU AMYR ANYX AOD6 AOMQ AR9W ARFT ARZ9 AUFJ AYAU AYQT AZ4J AZ5O B2KB B9HM BBNF BBRI BF8A BG5M BHW5 BJT1 BK29 BV7K BXSX BYVF C18M C4K2 C4MF C6Y3 C8Q4 CA0L CAEM CCK1 CCZB CE16 CK6O CNZJ COR8 CPKG CUV8 CXPA CYGK D0IN D2VE D3OF D8UI D90X D9R5 D9ZV DFPM DIFV DJ2Y DJNC DK1A DLS1 DNA0 DRB7 DRXS DRZF DSU0 DT0L DUAC DVJA DWMJ DZJM E02N E36R E4HN E7CP E9UF EI85 ENNE EO6P EOHE ERE3 ERRX ESHT EY9N EYG6 F1AK F2VY F39D F6WQ F7X3 F9UG FHPR FHWS FIFS FKM6 FLZL FMMH FMNC FQTJ FXNB FZRX G0X5 G3C7 G5CL G8FZ G914 GB4U GBVH GC3Y GEMF GHP7 GIZN GLPO GQ1Q GRKW GVB4 GW00 GWM7 GZYP H25T H27Y H2VL H4C9 H4LK H5B5 H5EH H5L1 H6BV H8CI H8IH HA2V HDIC HF1E HFPV HIJ9 HKJC HP63 HQVO HSBG HWI6 HX4N HYFU I6N5 I7QX I8TW IC89 IDME IJVR ILMO ILWY INBL INH9 INPU IRUP IT83 ITBC ITYJ IULP IV3A IVV9 IXHU IZFY IZKQ J17C J447 J5Z0 J9M7 JBBQ JF1V JF8N JGD7 JJXV JLFX JMQS JOFV JSX2 JTJM JVOM JX2N JZRL K1J5 K3C9 K7Y0 K8I8 KHCD KIOI KLK2 KOBZ KOTG KQKK KRWX KV2V KV8M KVYU KYJJ L077 L0I5 L1JD L1UE L4G5 L4YK LCQ5 LDBP LDHB LEPV LJ5D LNEN LOEF LOF5 LTKJ LVPF LX4R LYAD M170 M1KN M2A5 M6S4 M722 M87Y M9QZ MAED MDPS MESS MI6E MIU3 MJ9E MOAU MZKJ N2IG N3GL N49S N5JK NA NAUR NBM7 NF8Q NG8A NI0T NITU NK6A NKEI NKMZ NLII NP9T NRG3 NSTJ NVC9 NX9Z NZLP NZSY O03G O76S O815 O9MY O9YO ODT5 ONMF OPSI ORRW OTUQ OURF OVPA OWHJ OZLS OZTA P78N P927 PAQG PBI3 PHRO POGM PQKI PT3J PTMJ PTO2 PUF2 PVIK PXHX PYKP PZDS PZIT Q2X4 Q3SV Q5T5 Q6AP Q71J Q90P Q9A6 QAAA QC14 QDX9 QFG2 QGJM QGOK QH09 QHSP QIBS QJ44 QJBM QRH7 QT17 QUPE QWKB R1VC R59Q R7SY RAHD RCBI RD3Y RGZ9 RJCD RJRD RM0J RNS3 RPFV RRH7 RRKI RSZT RXWS RYP1 RYSZ RZU9 S37F S87U S9R9 SC5U SFDV SPQD SQF2 SREX SRNJ SWCP SZVM SZVU T2D0 TD84 TFG2 TFZC TGDP TGKV TM2Q TMOJ TTDR TUBA TUBP TVBG U1ZZ U5TO U7OU U9D6 U9IZ UAMN UFCD UGBG UH14 UHVP UKL9 UUT5 UY2P UY8C V1PO V42F V4HF V65S V7JY V9I3 VITC VJ0Y VK14 VL78 VLFH VNDY VNHI VO8X VPTU VQKL VS17 VXBV VXOY VYZR W01J W27X W8RW W986 WB7H WBR2 WDU9 WE5M WICN WIEN WJ64 WMKD WN8I WNW3 WOAU WQ0L WRRU WUGA WZMT X08Z X0N3 X52J X6V2 X7SU XBKC XDWM XFT0 XI3Q XJQC XKAW XKZA XLCX XLU7 XN45 XOZA XSEE XZ97 Y3MD Y3OD Y5Z6 Y63A Y6V5 Y7RJ YAGJ YCV0 YFO2 YJGI YNNI YP1P YPW2 YTIO YWEP YWJV YWXA Z3OQ Z6Q4 Z6T8 ZA2M ZE22 ZFQ9 ZFSG ZH2A ZIWZ ZKT1 ZLPD ZLSP ZN58 ZPP2 ZR8V ZRXG ZT7M ZTJ4 ZUWC ZUX3		BBS1 BBS2 BBS3 BBS4 BBS5 BBS6 BBS7 BBS8 BBS9 BBS10 BBS11 BBS12 BBS13 BBS14 BBS16 BBS17 BBS18 BBS19 BBS20 BBS21			?/? cLOF/cLOF cLOF/MS MS/cLOF MS/MS		F M	0-9 10-19 20-39 40+		0 1	0 1 1!	0 1	0 1 1!	0 1 1!	0 1 1!	0 1	0 1 1!	0 1 1!	Algerian Arabica Ashkenazi Jewish Belgian British British/Canadian/French/German British/Irish Canada Canadian Canadian Native Indian Caucasian Chinese Croatian Danish/Dutch/Norwegian Denea East Indian Egyptian El-Salvadorian English English/German/Canadian English/Irish English/Irish/Scotish English/Irish/Scottish English/Scottish/French/Canadian English/Scottish/German/Iceland Europe European European/American Faroe Islands French French/Canadian German German/Irish/Swedish/Hungarian German/Italian Ghanian Guyanese Gypsy Hutterite India Indian Iranian Iraqi Irish Irish/English/German/Norwegian Israel Israel Arab Italian Japanese Japanese/Paraguayan Jordanian Korean Kuwait La Réunion Latino Lebanese Malay Melanesian Mexican Mexican/Norwegian/Danish Middle Eastern Moroccan N. European NA Netherland Newfoundland Nicaraguan Northern European Omani Pakistani Peruvian Peruvian/Spanish Polish Portugese Romanian Russian Saudi Arabian Scandinavian Somalian South African Black South African Black/European/Asian Spanish Swedish Swiss Tunisian Turkey Turkish United Kingdom USA White European
Leitch et al. 2008	VPTU	L398-03	BBS10		p.Ser73fs19/p.Ser73fs19	cLOF/cLOF	[]	M	0-9	9	1	1	1	1		1		0	1	Lebanese
Leitch et al. 2008	RXWS	PB215-04	BBS13		p.Cys492Trp/p.Phe371del	MS/MS		M	0-9	2	0	1	1			0		0	0	Turkish
Leitch et al. 2008	7AAP	KK20-04	BBS9	c.2804G>A/c.2804G>A	splice/splice	cLOF/cLOF	[]	M	0-9	5	1	1	1	1	1	1		0	1	Saudi Arabian
Badano et al. 2003	NKEI	AR768-03	BBS1		p.Met390Arg/frameshift - deletion in exon 16	MS/cLOF		F	0-9	9	1	0		0	1					Northern European
Badano et al. 2003	NKEI	AR768-04	BBS1		p.Met390Arg/frameshift - deletion in exon 16	MS/cLOF	[]	F	0-9	7	1	1		1	1					Northern European
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
Lindstrand et al. 2016	272G	AR380-03	BBS1		p.Met390Arg/p.Met390Arg	MS/MS		F	0-9	9	1	1	1	1		0			0	NA
Lindstrand et al. 2016	GW00	AR888-03	BBS1	c.1645G>T/deletion of exons 1-11	p.Glu549*/deletion of exons 1-11	cLOF/cLOF	[]	M	0-9	4	1	1	1	1		1			1	Latino	[]
Lindstrand et al. 2016	KOBZ	AR883-04	BBS10	c.2119_2120delGT/c.2118_2119delTG	p.Val707/p.Val707fs	cLOF/cLOF	[]	M	0-9	4	1	1	1	1		1				NA
Lindstrand et al. 2016	C6Y3	KK047-05	BBS2		deletion of exons 8-15/deletion of exons 8-15	cLOF/cLOF		M	0-9	9	1	1	1	1	1					NA
Lindstrand et al. 2016	I6N5	RC2-03	BBS2	c.367A>G/c.367A>G	p.Ile123Val/p.Ile123Val	MS/MS	[]	M	0-9	6	1	0	1		1	1			1	Latino	[]
Lindstrand et al. 2016	ZFQ9	AR800-03	BBS4		deletion of exons 5-6/deletion of exons 5-6	cLOF/cLOF		M	0-9	5	1	1	1	1	1					NA
White et al. 2006	TGDP	Patient C	BBS10	c.995_999delAAGA/c.995_999delAAGA	p.Gln242fs17/p.Gln242fs17	cLOF/cLOF		M	0-9	4	1	1	1	1	0	0	0		1	Omani
White et al. 2006	TGDP	Patient D	BBS10	c.995_999delAAGA/c.995_999delAAGA	p.Gln242fs17/p.Gln242fs17	cLOF/cLOF		F	0-9	6	1	1	1	1	1	0	0		1	Omani
Yamamura et al. 2017	V9I3	patient 1	BBS16	c.845_848delTTTG/c.845_848delTTTG	fs/fs	cLOF/cLOF		F	0-9	3	1	0	0	1		1				Japanese
Yoon et al. 2014	J447	brother	BBS10	c.235_236insA/c.530A>G	p.Thr78Asnfs*17/p.Tyr177Cys	cLOF/MS		M	0-9	6,5	1	1	0			1			1	Korean
M'hamdi et al. 2013	VK14	BBS-F01-A	BBS1	c.1473+4A>G/c.1473+4A>G	splice/splice	cLOF/cLOF		F	0-9	5	1	1	1	0	1	0				Tunisian
M'hamdi et al. 2013	7H0X	BBS-F12-B	BBS1	c.39delA/c.39delA	p.Ala14Leufs28/p.Ala14Leufs28	cLOF/cLOF	[]	M	0-9	4	1	1	1	1	1	1				Tunisian
Billingsley et al. 2010	PXHX	60yy	BBS10		p.Lys188Thr/p.Ala636Val	MS/MS	[]	F	0-9	6	1	0	1	1		1		0	1	Turkish
M'hamdi et al. 2013	QJ44	BBS-F02-A	BBS2	c.345+5G>A/c.345+5G>A	splice/splice	cLOF/cLOF	[]	M	0-9	6	1	1	1	1	1	0				Tunisian
M'hamdi et al. 2013	FHWS	BBS-F07-A	BBS2	c.565C>T/c.565C>T	p.Arg189/p.Arg189	cLOF/cLOF		F	0-9	8	1	1	1	1	0	0				Tunisian
M'hamdi et al. 2013	5XR9	BBS-F03-A	BBS4		deletion of exons 4-6/deletion of exons 4-6	cLOF/cLOF	[]	F	0-9	4,5	1	1	1	0	1	0				Tunisian
M'hamdi et al. 2013	BK29	BBS-F10-A	BBS6	c.1272+1G>A/c.1272+1G>A	splice/splice	cLOF/cLOF	[]	F	0-9	7	1	1	1	1	1	0				Tunisian
Billingsley et al. 2010	YAGJ	126**	BBS12		p.Arg355Gln/p.Arg355Gln	MS/MS	[]	F	0-9	4	1	1	1	1						Canadian Native Indian
M'hamdi et al. 2013	UH14	BBS-F14-A	BBS8	c.459+1G>A/c.459+1G>A	splice/splice	cLOF/cLOF		M	0-9	4	1	1	1	0	1	1				Tunisian
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