Table 3:
n | Age | SMARCA4 mutation | Predicted Origin | Mutation Type | Previously Identified |
---|---|---|---|---|---|
1 | 48 | p.Ser127fs*174 p.Gln941* |
Unknown | Frameshift Nonsense |
No |
2 | 51 | Loss | Unknown | Loss | No |
3 | 63 | p.Asn175fs*105 p.Gln1053fs*53 |
Somatic | Frameshift Frameshift |
No |
4 | 52 | p.Arg1093* | Indeterminate | Nonsense | Yes |
5 | 43 | p.LysK443fs*54 p.Glu1292fs*14 |
Somatic | Frameshift Frameshift |
No |
6 | 51 | p.Gln1185* | Indeterminate | Nonsense | No |
7 | 60 | p.Arg1491* | Indeterminate | Nonsense | No |
8 | 49 | p.Gln201fs*102 p.Phe947fs*3 |
Indeterminate | Frameshift Frameshift |
No |
9 | 33 | p.Tyr862* | Indeterminate | Nonsense | No |
10 | 70 | c.2505+1G>A | Somatic | Splice site | No |
11 | 52 | p.Gly256* | Indeterminate | Nonsense | No |
12 | 44 | p.Lys587fs*26 | Somatic | Frameshift | No |
13 | 38 | p.Gly883fs*4 c.3236C>T |
Indeterminate | Frameshift Splice site |
No |
14 | 55 | p.Gln611* p.Lys1602fs*8 |
Germline | Nonsense Frameshift |
No |
15 | 45 | c.1593+1G>A p.Glu1310* |
Indeterminate | Splice site Nonsense |
No |
16 | 32 | p.Lys578fs*35 | Unknown | Frameshift | No |
17 | 40 | Loss c.3951+2_3951+20>AG |
Germline | Loss Splice site |
No |