Table 10. Mutations in Indian patients with Bernard Soulier Syndrome (BSS).

Sr. no.	Patient nos.	Gene/Location	Nucleotide change	Amino acid change	References
1	1,5,6,13,14,18	GP9, Exon 3	c.T70C	$p.Cys24Arg	[30]
2	2,8,9,12,16,17,19,21,23,24	GP1BB, Exon 2	c.124_145del22bp	$§p.Arg42del
3	3	GP9, Exon 3	c.119delG	§p.Gly40del
4	4	GP1BB, Exon 2	c.G462C	§p.Gln154His
5		GP1BB, Exon 2	c.T470C	§p.Leu157Pro
		GP1BA, Exon 2	c.T1522C	§p.Tyr508His(het)
6	7	GP9, Exon 3	c.437_474dup38	§p.Pro146*
7	10	GP1BB, Exon 2	c.C269G	§p.Pro90Arg
8	11,26	GP9, Exon 3	c.T212C	§p.Phe71Ser
9	15,20	GP9, Exon 3	c.T212G	§p.Phe71Cys
10	22	GP1BA, Exon 2	c.1253_1257dupC	p.Pro418del
11	25	GP1BA, Exon 2	c.339InsGA	§p.Gln113del
12	27	GP9, Exon 3	c.C328T	§p.Gln110*
13	1	GP9, Exon 3	c.T285G	§p.Tyr95*	[31]
14	2,3	GP9, Exon 3	c.T70C	$p.Cys24Arg
15	4	GP1BA, Exon 2	c.1013InsA	§p.Met338del
16	5,6	GP1BA, Exon 2	c.C97A	p.Cys32*
17	7	GP1BA, Exon 2	c.1455InsT	p.Val485del
18	8	GP1BA, Exon 2	c.G404A	§p.Cys135Tyr
19	1	GP1BA, Exon 2	c.G138A	p.Trp46*	[32]
20	2	GP1BA, Exon 2	c.236dupA	§p.Asp79del
21	3	GP1BA, Exon 2	c.941dupT	§p.Phe314del
22	4	GP1BA, Exon 2	c.278dupC	§p.Pro93del
23	5	GP1BA, Exon 2	c.266dupA	§p.Asp89del
24	6	GP1BA, Exon 2	c.1465delG	§p.Glu489del
25	7	GP9, Exon 3	c.T285G	§p.Tyr95*
26	8	GP1BA, Exon 2	c.1064dupT	§p.Phe355del
27	9,10	GP9, Exon 3	c.T70C	$p.Cys24Arg
28	11	GP1BA, Exon 2	c.143dupT	§p.Leu479del
29	12,13	GP1BA, Exon 2	c.T785G	p.Val262Gly
30	14,15	GP1BA, Exon 2	c.1592delT	§p.Leu515del

^§Novel variations, $ Common variation.