Name	Mutation	Size(kb)	Comments	Reference
Manchester 1, UK240	Deletion exons a-h	>273	Inhibitor	Anson et al (1988)
Manchester 2, UK241	Deletion exons a-h	>273	Inhibitor	Anson et al (1988)
HB200	Deletion exons a-h	>163		Ketterling et al (1994)
HB158	Deletion exons a-h	>163		Ketterling et al (1994)
HB5	Deletion exons a-h	>163		Ketterling et al (1994)
Boston 1, HB252	Deletion exons a-h	>163		Matthews et al (1987)
Jersey 1, UK426	Deletion exons a-h	>115		Matthews et al (1987);Taylor et al (1988)
HB81	Deletion exons a-h	>80		Ketterling et al (1994)
9329	Deletion exons a-h	>43kb	Inhibitor; MseI & HhaI sites absent	Thompson
HB267	Deletion exons a-h	>41		Ketterling et al (1994)
H1157	Deletion exons a-h	>41	Inhibitor	Hrachovinova et al
H587	Deletion exons a-h	>41	Inhibitor	Hrachovinova et al
Unnamed	Deletion exons a-h	~40	Inhibitor. Breakpoint in exon h	Hassan et al (1985)
Unnamed	Deletion exons a-h	>35		Kamiya et al (1995)
Unnamed	Deletion exons a-h	>35		Kamiya et al (1995)
Bari 1	Deletion exons a-h	>35	Inhibitor	Chen et al (1985)
Pisa 1	Deletion exons a-h	>35	Inhibitor	Bernardi et al (1985)
UK158	Deletion exons a-h	>35	Inhibitor	Green et al
Unnamed	Deletion exons a-h	>35	Inhibitor	Tanimoto et al (1988)
UK320	Deletion exons a-h	>35		Green et al
Unnamed	Deletion exons a-h	>35	Inhibitor	Tanimoto et al (1988)
Unnamed	Deletion exons a-h	>35	Inhibitor	Tanimoto et al (1988)
Rheine	Deletion exons a-h	>35		Ludwig et al (1989)
Ribeirao Preto 3	Deletion exons a-h	>35		Figueiredo (1993)
UK189	Deletion exons a-h	>35		Saad et al (1984)
Unnamed	Deletion exons a-h	>35		Kamiya et al (1995)
Unnamed	Deletion exons a-h	>35		Wadelius et al (1988)
Unnamed	Deletion exons a-h	>35		Koeberl et al (1989)
Unnamed	Deletion exons a-h	>35		Thompson (1991)
Munster 15	Deletion exons a-h	>35	Inhibitor	Wulff, Herrmann et al
Wurzburg2	Deletion exons a-h	>35		Wulff, Herrmann et al
Pecs	Deletion exons a-h	>35		Wulff, Herrmann et al
Unnamed	Deletion exons a-h	>35		Kamiya et al (1995)
Unnamed	Deletion exons a-h	>35		Kamiya et al (1995)
HB641	Deletion exons a-h	>35		Li, X, (2000)
HB267	Deletion exons a-h	>35		Ketterling, R, (1999)
HB292	Deletion exons a-h	>35		Ketterling, R, (1999)
LY136	Deletion exons a-h	>35		Negrier et Vinciguerra
LY134	Deletion exons a-h	>35	Inhibitor	Negrier et Vinciguerra
LY151	Deletion exons a-h	>35	Inhibitor	Negrier et Vinciguerra
Malmo 68	deletion exons a-h	>35		Ljung et al (2001)
Malmo 60	deletion exons a-h	>35		Ljung et al (2001)
Malmo 34	deletion exons a-h	>35		Ljung et al (2001)
Malmo 2	deletion exons a-h	>35		Ljung et al (2001)
B-061	Deletion exons a-h	>35		Lillicrap et al (unpublished)
HM3692 HB	deletion exons a-h	>35kb		Fidalgo et al
Malmo 82	deletion exons a-d & f-h		exon e present	Ljung et al (2001)
Malmo 53	deletion exons a-f	>18		Ljung et al (2001)
9287	Deletion exons a-f	20-40kb	MseI site present	Thompson
HB71	Deletion exons b-h	>38		Ketterling et al (1994)
Unnamed	Deletion exons b-h	27-42		Thompson (1991)
HB128	Deletion exons b-f, Insertion of 2.3kb	26.8	del5437-32245; ins29900-32196	Ketterling et al (1994)
Braunschweig	Deletion exons b-h	>28	Inhibitor	Wulff, Herrmann et al
LY122	Deletion exons b-h			Negrier et Vinciguerra
London 1, UK1	Deletion f-h.Ins16bp at junction.	22.423	Inhibitor. Del18501-(+22,423bp)	Green et al(1988)
Wurzburg 3	Deletion exons b-e	>18	Inhibitor	Wulff, Herrmann et al
Munster 14	Deletion exons e-h	>15		Eigel & Horst
Delmenhorst	Deletion exons f-h	>12		Wulff & Herrmann et al
HB759	Deletion exons f-h			Jaloma-Cruz, R, (2000)
9134	Deletion exons f-h	>20kb	HhaI site absent	Thompson
Jemen	Deletion exon a	11-35		Ludwig et al (1989)
Seattle 1	Deletion exons e-f	10		Chen & Scott (1990)
Hannover	Deletion exons d,e	9.318	del9900-19218	Ludwig et al (1989,1992)
Tubingen	Deletion exons a-c	~9	Inhibitor	Ludwig et al (1989)
HB164	Deletion exons g,h	8.8	del23964-32758	Ketterling et al (1994)
HB868	Deletion exons g-h			Li, X, (2000)
HB766	Deletion exons g-h			Jaloma-Cruz, R, 2000
Ribeirao Preto 2	Deletion exons a-c	>7.4		Figueiredo (1993)
HB684	Deletion 20078-26544	6.466		Li, X (2000)
Unnamed	Deletion exons g,h	>5?		McGraw et al (1985)
LY85	Deletion exons g-h			Negrier et Vinciguerra
9341	Deletion exons g-h	3-20kb	HhaI site present	Thompson
Chicago 1	Deletion exons e,g,h	5.5 & 10.4	Inhibitor. Complex rearrangement	Matthews et al (1987)
Unnamed	Deletion exon d	~5		Vidaud et al (1986)
HB194	Deletion exon a	>3		Ketterling et al (1994)
Ratingen	Deletion exon g	1.378	del29409-30787	Ludwig et al (1989 & unpublished)
HB251	Deletion exon e	1.1	del17496-18592	Ketterling et al (1994)
HB251	Deletion exon e			Ketterling et al (1999)
HB844	Deletion exon h			Liu, JZ, (2000)
HB835	Deletion exon h			Liu, JZ, (2000)
HB834	Deletion exons e -HhaI poly			Liu, JZ, (2000)
HMB 5196	Deletion e-HhaI poly			Goossens et al
2123 HB3	Deletion exon h -HhaI poly	>8		Lavergne et al
HB209	Deletion exon f + inversion of 95bp	10.9	del18684-29584; inv24075-32758	Ketterling et al (1993,1994)
Madrid 2	Deletion+inversion of47bp	4.442		Solera et al (1992)
HB756	Deletion/inversion exon g			Li, X, (2000)
El Salvador	Insertion in exon d	~6		Chen et al (1988)
HB 7, Fr	Insertion at 17688	0.322	Alu insertion	Vidaud et al (1993)
1983P	Insertion/Duplication		276bp Alu insertion at 17700; duplication 17686-1700	Wulff et al (1998)
HB671	Alu insertion			Li, X, (2000)
Unnamed	Line1 insertion at 30130 (exon g)	0.288	163bpL1+125bp polyA; duplication 30089-30103	Mukherjee et al (2004)