A germline mutation in Rab43 gene identified from a cancer family predisposes to a hereditary liver-colon cancer syndrome

Table 1 SNVs identified from the 54 year old proband in comparison with his mother

Chr	Position	rsID	Gene	DNA change	AA change
1	151,090,537	rs2864699	GABPB2	G/C	Q/H
1	248,569,476	–	OR2T1	G/T	D/Y
3	128,810,106	rs970572	RAB43	C/T ^a	A/T
4	17,609,087	–	LAP3	C/T	H/Y
7	6,692,019	rs2250356	ZNF316	C/G	–
11	118,401,572	rs535760315	TTC36	T/C	C/R
12	110,206,393	rs824998	FAM222A	G/A	C/Y
15	102,359,116	rs1370063626	OR4F15	C/T	H/Y
16	66,776,341	rs8055189	DYNC1LI2	A/G	F/L
16	67,860,078	rs188707401	TSNAXIP1	C/T	R/C
16	87,466,766	rs7499131	ZCCHC14	T/G	K/Q
16	87,760,390	rs4843689	KLHDC4	T/C	Y/C
22	17,600,584	–	CECR6	G/T	D/E

Chr chromosome and its number, rsID the indel ID obtained from dbSNP135 database, AA change amino acid change
^aThe C to T transition in Rab43 gene reflects the sequencing results of the DNA changes on the anti-sense strand of Rab43 gene

ISSN: 1471-2407