#gene	p.	aa	mutation
APC	623	R	G>T
AR	889	S	C>T
ATM	1192	K	G>A
CD40	136	T	A>T
CFTR	893	G	G>T
CHRNE	305	G	C>T
CYP27A1	145	G	G>T
F9	153	V	G>A
FAH	232	N	C>T
FBN1	2118	I	C>T
FGFR2	344	A	G>A
HEXA	190	L	G>A
HMBS	22	R	C>G
HPRT1	199	F	C>T
ITGB3	420	T	G>A
LIPA	298	Q	G>A
MAPT	284	L	T>C
MAPT	296	N	T>C
MAPT	305	S	T>C
MLH1	577	S	G>A
NF1	354	K	G>A
PAH	323	T	A>G
PAH	399	V	A>T
PDHA1	185	G	A>G
PKLR	423	A	G>A
PTS	81	E	G>A
RET	647	I	C>T
SMN1	280	F	C>T
TCOF1	1127	S	A>C
TP53	125	T	G>A
UBA1	577	N	C>T
UROD	314	E	G>A
ZFP36	109	R	C>T