Table 1 Summary of mutations affecting correct splicing of the FGFR2 exon IIIc donor site

c.1032G>A

p.(Ala344Ala)

Activation of cryptic splice site

Yes

Reardon et al. 1994 [6]; Li et al. 1995 [21]; Del Gatto & Breathnach 1995 [22]

c.1083A>G

p.(Pro361Pro)

Loss of normal donor site with use of alternative cryptic splice site

Yes

This study

c.1083A>T

p.(Pro361Pro)

As above

Yes

This study

c.1084G>T

p.(Ala362Ser)

Annotated as missense but likely to affect splicing

No

Everett et al. 1999 [20]

c.1084+3A>G

-

Loss of normal donor site with use of alternative cryptic splice site

Yes

Kan et al. 2004 [17]

c.1084+3A>C

-

Loss of normal donor site with use of alternative cryptic splice site

No

Cornejo-Roldan, Roessler & Muenke 1999 [23]; Kress et al. 2000 [24]