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. Author manuscript; available in PMC: 2021 Apr 1.
Published in final edited form as: Gynecol Oncol. 2020 Jan 15;157(1):106–114. doi: 10.1016/j.ygyno.2019.10.031

Table 3:

SMARCA4 mutations in DUS

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