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Description of the mutations of FGFR1 (NM_023110) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion

R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

SKU	Mutation Description	Affected Codon#	Affected NT#	Description	Effect
RC403382	G48S	48	142	G>A	Kallmann syndrome
RC403383	R78C	78	232	C>T	Kallmann syndrome
RC403384	G97D	97	290	G>A	Kallmann syndrome
RC403385	Y99C	99	296	A>G	Kallmann syndrome
RC403386	C101F	101	302	G>T	Kallmann syndrome
RC403387	v102I	102	304	G>A	Kallmann syndrome
RC403388	S107X	107	320	C>A	Kallmann syndrome
RC403389	D129A	129	386	A>C	Kallmann syndrome
RC403390	A167S	167	499	G>T	Kallmann syndrome
RC403391	C178S	178	533	G>C	Kallmann syndrome
RC403392	D224H	224	670	G>C	Kallmann syndrome
RC403393	G237D	237	710	G>A	Kallmann syndrome
RC403394	L245P	245	734	T>C	Kallmann syndrome
RC403395	R250W	250	748	C>T	Kallmann syndrome
RC403396	P252R	252	755	C>G	Pfeiffer syndrome
RC403397	R254Q	254	761	G>A	Kallmann syndrome
RC403398	G270D	270	809	G>A	Kallmann syndrome
RC403399	v273M	273	817	G>A	Kallmann syndrome
RC403400	E274G	274	821	A>G	Kallmann syndrome
RC403401	C277Y	277	830	G>A	Kallmann syndrome
RC403402	P283R	283	848	C>G	Kallmann syndrome
RC403403	I300T	300	899	T>C	Non-syndromic trigonocephaly
RC403404	E324X	324	970	G>T	Kallmann syndrome
RC403405	N330I	330	989	A>T	Osteoglophonic dysplasia
RC403406	S332C	332	995	C>G	Kallmann syndrome
RC403407	Y339C	339	1016	A>G	Kallmann syndrome
RC403408	L342S	342	1025	T>C	Kallmann syndrome
RC403409	A343v	343	1028	C>T	Kallmann syndrome
RC403410	S346C	346	1037	C>G	Kallmann syndrome
RC403411	P366L	366	1097	C>T	Kallmann syndrome
RC403412	Y374C	374	1121	A>G	Osteoglophonic dysplasia
RC403413	C381R	381	1141	T>C	Osteoglophonic dysplasia
RC403414	R470L	470	1409	G>T	Hypogonadotropic hypogonadism, idiopathic
RC403415	A520T	520	1558	G>A	Kallmann syndrome
RC403416	I538v	538	1612	A>G	Kallmann syndrome
RC403417	Y585X	585	1755	C>A	Kallmann syndrome
RC403418	v607M	607	1819	G>A	Kallmann syndrome
RC403419	H621R	621	1862	A>G	Kallmann syndrome
RC403420	R622X	622	1864	C>T	Kallmann syndrome
RC403421	R622G	622	1864	C>G	Kallmann syndrome
RC403422	R661X	661	1981	C>T	Kallmann syndrome
RC403423	W666R	666	1996	T>A	Kallmann syndrome
RC403424	S685F	685	2054	C>T	Kallmann syndrome
RC403425	G687R	687	2059	G>A	Kallmann syndrome
RC403426	I693F	693	2077	A>T	Kallmann syndrome
RC403427	G703S	703	2107	G>A	Kallmann syndrome
RC403428	G703R	703	2107	G>C	Kallmann syndrome
RC403429	M719R	719	2156	T>G	Kallmann syndrome
RC403430	P722S	722	2164	C>T	Kallmann syndrome
RC403431	Y730X	730	2190	C>G	Kallmann syndrome
RC403432	P745S	745	2233	C>T	Kallmann syndrome
RC403433	P772S	772	2314	C>T	Kallmann syndrome
RC403434	v795I	795	2383	G>A	Kallmann syndrome

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Description of the mutations of FGFR1 (NM_023110) Mutants