Table 4.

Additional FGFR2 Sequence Variants in 146 Patients Negative for Mutation in Exons IIIa and IIIc

Location (No. of Variants) and Nucleotide Changea	Amino AcidSubstitution	Frequency ofRarer Alleleb	Reference
Exon 2 (2):
c−74G→A	…	1/286
c−46G→A	…	1/286
Exon 3 (4):
110−54C→T	…	2/286
159G→A	A53A	1/286	rs1047102c
170C→T	S57L	1/286
294G→A	T98T	.024	rs1047101c
Exon 5 (1):
557T→C	M186T	2/286	rs755793c
Exon 6 (1):
696G→A	V232V	.243	rs1047100c
Exon 7 [3′] (1)
340G→Ad		.071	rs1801043c
Exon 11 (1):
1085−41G→A	…	1/286
Exon 12 (1):
1288−23G→C	…	2/286
Exon 15 (2):
1673−47G→A	…	2/288
1673−10C→T	…	1/288
Exon 16 (2):
1864−17T→G	…	.014	Ingersoll et al. (in press)
1941C→T	L647L	1/282
Exon 18 (1):
2058−31A→G	…	.018	Ingersoll et al. (in press)
Exon 19 (1):
2301+15T→C	…	.420	Ingersoll et al. (in press)

^aDirection of nucleotide substitution is from the more common allele to the less common allele.

^bExpressed as a decimal fraction if >.01; expressed as a proportion (no. of alleles identified/no. of alleles tested) if <.01.

^cSee the Single Nucleotide Polymorphism web site.

^dNucleotide number in exon 7.