Table 2 InDels identified from the 54 year old proband in comparisonwith his mother
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 |