Table 2.

The F8 mutational spectrum in Malaysian Haemophilia A (HA) patients without intron 22 and 1 inversions. The summary of the genetic alterations in the F8 gene in HA patients that were negative for intron 22 and intron 1 inversions. Nucleotide numbering (c.) is according to coding bases from A (nucleotide +1) the initiation methionine (ATG) at position −171 (F8 mRNA gene bank ref. NM_000132.3) and protein numbering (p.) follows amino acid sequences that assign the first residue Methionine as +1 in factor VIII protein sequence (NP_000123.1) according to Human Genome Variation Society guidelines.²⁸

Patients	Ethnicity	F8 Exon	F8 domain	Nucleotide Changes	Amino Acid Changes	Novelty	Disease Severity	Mutation Effects
HA5/HA36	Malay/Malay	14	B	c.3610InsA	p.N1204Kfs*2	Novel	Severe	Frameshift
HA9	Malay	4	A1	c.553DelAA	p.K185Rfs*14	Novel	Severe	Frameshift
HA11	Malay	Exon7/Intron7	A1	c.1007A>C c.1008-1009 DelTG/GT	-	Novel	Severe	Donor splice site
HA17	Chinese	14	B	c.49464947 DelGT	p.G1649Efs*3	Novel	Severe	Frameshift
HA18	Malay	9	A2	c.1354G>T	p.D452Y	Novel	Mild	Missense
HA24	Other	14	B	c.3625C>T	p.Q1209*	Novel	Severe	Nonsense
HA25	Chinese	8	A1	c.1016T>G	p.M339R	Novel	Severe	Missense
HA45#	Malay	14	B	c.3175DelA	p.V1060*fs	Novel	Severe	Frameshift
HA52	Malay	14	B	c.4820InsA	p.T1609Nfs*3	Novel	Severe	Frameshift
HA54	Indian	Intron6	-	c.787+1G>T	-	Novel	Severe	Donor splice site
HA57	Indian	14	B	c.2444DelAG	p.P817Yfs*9	Novel	Severe	Frameshift
HA61	Malay	14	B	c.2696DelG	p.S899Ifs*6	Novel	Moderate	Frameshift
HA62	Malay	14	B	c.3762DelT	p.N1254Kfs*2	Novel	Severe	Frameshift
HA67	Malay	26	C2	c.6986C>G	p.P2329R	Novel	Severe	Missense
HA70	Chinese	19	A3	c.6085A>T	p.M2029L	Novel	Mild	Missense
HA76	Malay	14	A2	c.2159G>T	p.G720V	Novel	Severe	Missense
HA77	Malay	17	A3	c.5609T>C	p.L1870P	Novel	Moderate	Missense
HA80	Malay	21	C1	c.6272A>C	p.K2091T	Novel	Mild	Missense
HA86	Chinese	25	C2	c.6857A>T	p.D2286V	Novel	Severe	Missense
HA87	Chinese	23	C1	c.6355DelC	p.Q2119Sfs*24	Novel	Severe	Frameshift
HA91	Malay	Intron22	-	c.6429+2T>A	-	Novel	Moderate	+2 Donor splice site
HA93	Malay	8 – 12	A1-a1-A2	-	-	Novel	Severe	Large deletion
HA1	Malay	4–6	A1	-	-	Reported	Severe	Large deletion
HA2	Chinese	11	A2	c.1696C>T	p.L566F	Reported	Moderate	Missense
HA6/HA23/HA27/HA40 HA8/HA44/	Chinese/Malay/Malay/Chinese	14	B	c.3629InsA	p.I1213Nfs*28	Reported	Severe	Frameshift
HA50	Malay/Malay/Malay	Intron18	-	c.5998-1G>A	-	Reported	Severe	−1 Acceptor splice site
HA12	Malay	4	A1	c.524A>C	p.Y175S	Reported	Mild	Missense
HA26	Chinese	14	B	c.4156C>T	p.Q1386*	Reported	Severe	Nonsense
HA32	Chinese	3	A1	c.274 G>C	p.G92R	Reported	Severe	Missense
HA33	Malay	22	C1	c.6317A>C	p.Q2106P	Reported	Severe	Missense
HA38/HA65	Malay/Malay	24	C2	c.6682C>T	p.R2228*	Reported	Severe	Nonsense
HA41	Malay	8–9	A1-a1-A2	-	-	Reported	Severe	Large deletion
HA42	Chinese	3	A1	c.274G>A	p.G92S	Reported	Mild	Missense
HA45#	Malay	14	B	c.2383A>G	p.R795G	Reported	Severe	Missense
HA48	Chinese	Intron6	-	c.787+1G>A	-	Reported	Severe	Donor splice site
HA55	Malay	18	A3	c.5941G>A	p.V1981M	Reported	Mild	Missense
HA58	Chinese	8	a1	c.1171C>T	p.R391C	Reported	Moderate	Missense
HA66	Malay	9	A2	c.1443G>A	p.L481L	Reported	Mild	Splice site end of Exon 9
HA68	Indian	Intron16	-	c.5586+2T>G	-	Reported	Severe	Donor splice site
HA71	Chinese	18	A3	c.5879G>A	p.R1960Q	Reported	Mild	Missense
HA73	Malay	12	A2	c.1812G>C	p.W604C	Reported	Severe	Missense
HA78	Malay	14	B	c.3637DelA	p.I1213Ffs*5	Reported	Severe	Frameshift
HA85	Malay	17	A3	c.5689-5690 DelCT	p.L1897Vfs*6	Reported	Severe	Frameshift

HA, Haemophilia A,

^#indicates the same sample having double mutations.