Table 1 Novel nonsense, small deletions,... | American Society of Hematology

Table 1

Novel nonsense, small deletions, small insertions, tandem duplications, and splice site mutations detected in Spanish HA patients

Exon/intron*	Mutation	Codon	Domain	Clinical severity	Inhibitors	Family history
8	c.1251insC	p.Leu398fsX7	A2	Severe	No	Sporadic
11	c.1682delA	p.Asp542fsX2	A2	Severe	No	Sporadic
14	c.2766delC	p.Ser903fsX2	B	Moderate	No	Positive
14	c.3093delAAGA	p.Lys1012fsX9	B	Severe	Yes	Positive
14	c.3557delT	p.Phe1167_8fsX31	B	Severe	No	Sporadic
14	c.4155_4195dup	p.Thr1366ThrfsX4	B	Severe	Yes	Sporadic
16	c.5508_5521del	p.Trp1817fsX32	A3	Severe	No	Sporadic
17	c.5805T>A	p.Tyr1916Stop	A3	Severe	?	Sporadic
20	c.6135G>T	p.Gly2026Stop	C1	Severe	No	Sporadic
13*	IVS13 a-2g	—	—	Severe	Yes	Sporadic
15*	IVS15 g-1c	—	—	Severe	No	Sporadic

Exon/intron*	Mutation	Codon	Domain	Clinical severity	Inhibitors	Family history
8	c.1251insC	p.Leu398fsX7	A2	Severe	No	Sporadic
11	c.1682delA	p.Asp542fsX2	A2	Severe	No	Sporadic
14	c.2766delC	p.Ser903fsX2	B	Moderate	No	Positive
14	c.3093delAAGA	p.Lys1012fsX9	B	Severe	Yes	Positive
14	c.3557delT	p.Phe1167_8fsX31	B	Severe	No	Sporadic
14	c.4155_4195dup	p.Thr1366ThrfsX4	B	Severe	Yes	Sporadic
16	c.5508_5521del	p.Trp1817fsX32	A3	Severe	No	Sporadic
17	c.5805T>A	p.Tyr1916Stop	A3	Severe	?	Sporadic
20	c.6135G>T	p.Gly2026Stop	C1	Severe	No	Sporadic
13*	IVS13 a-2g	—	—	Severe	Yes	Sporadic
15*	IVS15 g-1c	—	—	Severe	No	Sporadic

? indicates not available; and —, not applicable.