Skip to main content

Advertisement

Table 2 InDels identified from the 54 year old proband in comparisonwith 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
3 54,959,059 rs370607786 LRTM1 T/− H > Fs
3 75,787,349–75,787,353 ZNF717 CCCTG/− T > Fs
3 97,887,844 rs377659479 OR5H15 T/− F > Fs
4 70,360,942 UGT2B4 T/− N > Fs
8 10,480,295 rs201192645 RP1L1 −/G P > Fs
11 4,566,460 rs77893620 OR52M1 T/− F > Fs
14 38,679,763 SSTR1 −/GCTCT T > delins TLX
17 62,855,003 LRRC37A3 −/A
19 41,018,845 SPTBN4 C/− Q > Fs
20 168,625 rs11396059 DEFB128 −/T H > Fs
20 1,592,151–1,592,152 SIRPB1 G/− L > Fs
20 1,592,154 SIRPB1 −/AC D > Fs
20 2,674,430 EBF4 T/−
20 50,701,795 ZFP64 G/− P > Fs
21 11,029,597 rs60459764 BAGE2,BAGE3 C/−
22 43,926,809–43,926,813 EFCAB6 AGAGT/− Y > Fs
  1. Chr chromosome and its number, rsID the indel ID obtained from dbSNP135 database, AA change amino acid change