Table 2. Genetics and Tosetto bleeding... | American Society of Hematology

Table 2.

Genetics and Tosetto bleeding scores of NS and NSML patients

Patient	Gene	Exon	Mutation on DNA	Mutation on protein	Cutaneous bruising/mucosal bleeding	Tosetto bleeding score
NS 1	PTPN11	8	c.922 A>G	p.Asn308Asp	Yes	1
NS 2	PTPN11	3	c.215 C>G	p.Ala72Gly	Yes	6
NS 3	PTPN11	13	c.1510 A>G	p.Met504Val	Yes	2
NS 4	PTPN11	4	c.417 G>C	p.Glu139Asp	Yes	3
NS 5	PTPN11	4	c.417 G>C	p.Glu139Asp	Yes	6
NS 6	PTPN11	6	c.767 A>G	p.Gln256Arg	Yes	1
NS 7	PTPN11	6	c.767 A>G	p.Gln256Arg	Yes	2
NS 8	PTPN11	8	c.922 A>G	p.Asn308Asp	Yes	5
NS 9	PTPN11	3	c.184 T>G	p.Tyr62Asp	Yes	3
NS 10	PTPN11	6	c.767 A>G	p.Gln256Arg	Yes	3
NSML 1	PTPN11	7	c.836 A>G	p.Tyr279Cys	Yes	7
NSML 2	PTPN11	12	c.1043 C>T	p.Thr468Met	No	1
NSML 3	PTPN11	12	c.1043 C>T	p.Thr468Met	No	2

Patient	Gene	Exon	Mutation on DNA	Mutation on protein	Cutaneous bruising/mucosal bleeding	Tosetto bleeding score
NS 1	PTPN11	8	c.922 A>G	p.Asn308Asp	Yes	1
NS 2	PTPN11	3	c.215 C>G	p.Ala72Gly	Yes	6
NS 3	PTPN11	13	c.1510 A>G	p.Met504Val	Yes	2
NS 4	PTPN11	4	c.417 G>C	p.Glu139Asp	Yes	3
NS 5	PTPN11	4	c.417 G>C	p.Glu139Asp	Yes	6
NS 6	PTPN11	6	c.767 A>G	p.Gln256Arg	Yes	1
NS 7	PTPN11	6	c.767 A>G	p.Gln256Arg	Yes	2
NS 8	PTPN11	8	c.922 A>G	p.Asn308Asp	Yes	5
NS 9	PTPN11	3	c.184 T>G	p.Tyr62Asp	Yes	3
NS 10	PTPN11	6	c.767 A>G	p.Gln256Arg	Yes	3
NSML 1	PTPN11	7	c.836 A>G	p.Tyr279Cys	Yes	7
NSML 2	PTPN11	12	c.1043 C>T	p.Thr468Met	No	1
NSML 3	PTPN11	12	c.1043 C>T	p.Thr468Met	No	2