Table 1 FGFR3 mutations of ACH patients

[5, 7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84]

c. 1138G > A or

c. 1138G > C

glycine to arginine

p.Gly380Arg

95.5%

(446/467)

4.79e-6

or

6.85e-7

[14, 89]

c.1031C > G

serine to cysteine

p.Ser344Cys

0.4% (2/467)

NA

[16, 72]

c. 375G > T

glycine to cysteine

p.Gly375Cys

0.6%

(3/467)

1.20e-6

[47, 62]

c.833A > G

tyrosine to cysteine

p.Tyr278Cys

0.4%

(2/467)

NA

[85]

c.831A > C

serine to cysteine

p.Ser279Cys

0.2%

(1/467)

NA

[86]

c.970_971

ins

TCTCCT

the insertion of Ser-Phe after position Leu324

p.L324delinsLSF

0.2%

(1/467)

NA

[87, 88]

c.1043C > G

serine to cysteine

p.Ser348Cys

0.4%

(2/467)

NA

[90, 92]

c.649A > T

serine to cysteine

p.Ser217Cys

1.3%

(6/467)

NA

[91]

c.1180A > T

threonine to serine

p.Thr394Ser

0.9%

(4/467)

NA