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

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

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