. 2019 Jan 1;10(1):223–237. doi: 10.7150/jca.26978

Table 1.

SMARCA4 mutations in SCCOHT^ψ

Cases [Ref]	Mutations, Protein Changes	Mutation Types	Origin	Protein Expression
Ramos, et al. ⁶, ²⁶
DAH23	c.2438+1_2438+2insTGA	Splicing site	UN	Loss
DAH457	c.3277C>T, p.Arg1093*	Nonsense	UN	NA
DG1006	c.2855delA, p.Glu952fs	Frameshift	Somatic	Loss
DG1006	c.4672_4675delAGCG, p.Ser1559fs	Frameshift	Somatic
DG1219	c.3168+1G>A	Splicing site	Somatic	Loss
SCCO-001	c.1595delC, p.Ala532fs	Frameshift	UN	Loss
SCCO-001	c.482C>T, p.Ala161Val	Missense	UN
SCCO-002	c.1237C>T, p.Gln413*	Nonsense	Somatic	Loss
SCCO-002	c.2783C>T, p.Leu928Pro	Missense	Somatic
SCCO-004	c.613delC, p.Val204fs	Frameshift	Somatic	Loss
SCCO-005	c.3896_3907del12,p.Glu1300_Asn1303del	In-frame Deletion	Somatic	NA
SCCO-006	c.2293_2315del23, p.Trp764fs	Frameshift	Somatic	Loss
SCCO-006	c.2506G>T, p.Gly836*	Nonsense	Somatic
SCCO-007	c.1626delC, p.Ile542fs	Frameshift	UN	Loss
SCCO-007	c.991C>T, p.Gln331*	Nonsense	UN
SCCO-008	c.2935C>T, p.Arg979*	Nonsense	Germline	NA
SCCO-009	c.3539delC, p.Tyr1050fs	Frameshift	UN	Loss
SCCO-011	c.3565C>T, p.Arg1189*	Nonsense	UN	Loss
SCCO-014	c.2001delG, p.Glu667fs	Frameshift	UN	NA
SCCO-014	c.3481delC, p.Leu1161fs	Frameshift	UN
SCCO-015	c.3565C>T, p.Arg1189*	Nonsense	UN	NA
SCCO-016	c.3985_3986insC, p.Arg1329fs	Frameshift	UN	Loss
SCCO-017	c.722_735del15, p.Gly241fs*41	Frameshift	Germline	Loss
SCCO-019	c.2531_2532delTT, p.Phe844fs	Frameshift	UN	Loss
NF10	c.3277C>T, p.Arg1093*	Nonsense	Germline	Loss
NF11	c.1751_1751delA, p.Lys584Argfs*29	Frameshift	Somatic	Loss
NF12	c.3512_3513delTG, p.Val1171Aspfs*4	Frameshift	Somatic	Loss
NF12	c.3488_3525del38, p.Leu1163Gln*fs65	Frameshift	Somatic
NF13	c.3229C>T, p.Arg1077*	Nonsense	Germline	Loss
NF14	c.2973+1 G>A	Splicing site	Somatic	Loss
NF15	c.2838_2838delC, p.Phe947Leufs*3	Frameshift	Somatic	Loss
NF17	c.2274+2T>G	Splicing site	Somatic	Loss
NF18	c.3216-2A>G	Splicing site	Somatic	Loss
NF18	c.1189C>T, p.Arg397*	Nonsense	Somatic
NF21	c.2859+1G>C	In-frame Deletion	Somatic	Loss
NF21	c.196C>T, p.Gln66*	Nonsense	Somatic
Jelinic P. et al. ⁸
101	c.3546+1G>A	Splicing site	Somatic	Loss
102	C.4170+1G>A	Splicing site	Somatic	Loss
103	Exon 25-26 Deletion	In-frame deletion	Somatic	Retained
104	C.1746+1G>A	Splicing site	Somatic	NA
104	c.2932C>T, p.Arg978*	Nonsense	Somatic
105	c.1626_1626delC, p.Ile542Metfs*71	Frameshift	Somatic	NA
105	c.991C>T, p.Gln331*	Nonsense	Somatic
106	c.1165_1165delC, p.Ser391Profs*20	Frameshift	Somatic	Loss
106	c.3277C>T, p.Arg1093*	Nonsense	Somatic
107	c.3896_3907del12, p.Glu1300_Asn1303del	In-frame deletion	Somatic	UN
108	c.2539C>T, p.Gln847*	Nonsense	Somatic	Loss
109	c.2287_2288insG, p.Leu762fs	Frameshift	Somatic	Loss
109	c.2506G>T, p.Gly836*	Nonsense	Somatic
110	c.3496C>T, p.Gln1166*	Nonsense	Somatic	Loss
111	c.3013C>T, p.Arg1005*	Nonsense	Germline	Loss
112	c.2859+1G>A	Splicing site	Somatic	Equivocal
114	c.2973+1G>A	Splicing site	Somatic	Loss
Lavrut PM, et al. ¹⁷
	c.301_302delAG, p.Gly102Profs*26	Frameshift	Germline	Loss
Kupryjanczyk, et al. ⁷³
PJK1182	c.3760G>T, p.Glu1254*	Nonsense	Germline	Loss
PJK1233	c.3277C>T, p.Arg1093*	Nonsense	UN	Loss
PJK1233	c.2184_2206del , p.Gln729fs	Frameshift	UN
Bailey S, et al. ⁷⁵
	c.1757_1757delA, p.Lys586fs*27	Frameshift	Somatic	Loss
Laé M, et al. ⁷⁷
	c.3229C>T, p.Arg1077*	Nonsense	Germline	Loss
Le Loarer F, et al. ⁷⁸
SCCOHT1	c.300_301delAG, p.Gly102Profs*26	Frameshift	UN	Loss
SCCOHT2	c.4236_4237delGC, p.Arg1413Glnfs*41	Frameshift	UN	Loss
SCCOHT3	c.3216-1G>T	Splicing site	UN	Loss
SCCOHT4	c.2322_2322delC, p.Asn774Lysfs*57	Frameshift	UN	Loss
SCCOHT5	c.3241A>G, p.Lys1081Glu	Missense	UN	Loss
SCCOHT6	c.1542C>T, p.Gln515*	Nonsense	UN	Loss
SCCOHT7	c.3229C>T, p.Arg1077*	Nonsense	UN	Loss
SCCOHT8	c.3216-1G>T	Splicing site	UN	Loss
SCCOHT9	c.3229C>T, p.Arg1077*	Nonsense	UN	Loss
SCCOHT10	c.3951-1G>T	Splicing site	UN	Loss
Witkowski L, et al. ⁷, ¹⁰, ¹⁸, ⁷⁹
NF1	c.1224_1226delGCTinsAG, p.Leu409Glyfs*2	Frameshift	Germline	Loss
NF2	c.1663C>T, p.Gln555*	Nonsense	Somatic	Loss
NF3	c.3496C>T, p.Gln1166*	Nonsense	Somatic	Loss
NF4	c.3638_3638delA, p.Lys1213Argfs*3	Frameshift	Germline	Loss
NF5	c.3480_3481insG, p.Leu1161Alafs*15	Frameshift	Germline	Loss
NF6	c.2129_2129delC, p.Lys711Serfs*63	Frameshift	Somatic	Loss
NF6	c.1378C>T, p.Gln460*	Nonsense	Somatic
NF7	c.2245_2246insA, p.Met749Asnfs*75	Frameshift	Somatic	Loss
UN1	c.2362C>T, p.Gln788*	Nonsense	UN	Loss
UN1	c.561C>G, p.Thr187*	Nonsense	UN
UN2	c.3676C>T, p.Gln1226*	Nonsense	UN	Loss
UN3	c.2932C>T, p.Arg978*	Nonsense	Germline	Loss
UN4	c.3531delC, p.Trp1178Glyfs*38	Frameshift	Somatic	Loss
UN4	c.4687delG, p.Ile1564Serfs*32	Frameshift	Somatic
UN5	c.2275-1G>T,	Splicing site	Somatic	Loss
UN6	c.2838_2838delC, p.Phe947Leufs*3	Frameshift	UN	Loss
UN7	c.1141C>T, p.Arg381*	Nonsense	Germline	Loss
UN8	c.2190_2191insG, p.Tyr731Valfs*10	Frameshift	UN	Loss
UN9	c.1420+1G>T	Splicing site	UN	Retained
UN10	c.2049delC, p.Val684Trpfs*90	Frameshift	UN	Loss
UN11	c.3244delT, p.Phe1082Leufs*24	Frameshift	UN	Loss
UN12	c.2766G>A, p.Trp922*	Nonsense	UN	Loss
UN13	c.3546+1G>T	Splicing site	UN	Loss
UN14	c.2915T>C, p.Leu972Pro	Missense	UN
UN14	c.3168+1G>C	Splicing site	UN	Loss
UN15	c.1761+2T>A	Splicing site	UN	Loss
UN16	c.233_237delCCATGinsACC, p.Ser78Tyrfs*3	Frameshift	UN	Loss
FA1a	c.1027_1027delG, p.Val343Cysfs*68	Frameshift	Somatic	Loss
FA1a	c.4170+1G>A	Splicing site	Germline
FA1b	c.4170+1G>A	Splicing site	Germline	Loss
FA2a	c.643C>T, p.Gln215*	Nonsense	Germline	Loss
FA2b	c.1687_1700del14, p.Asn563Glyfs*82	Frameshift	Somatic	Loss
FA2b	c.643C>T, p.Gln215*	Nonsense	Germline
FA3a	c.2617-3C>G	Splicing site	Germline	Loss
FA4a	c.3239G>A, p.Gly1080Asp	Missense	Germline	Retained
FA4b	c.1326delC, p.Ser442Argfs*59	Frameshift	Somatic	Loss
FA4b	c.3239G>A, p.Gly1080Asp	Missense	Germline	Loss
FA7a	c.2859+1G>C	In-frame Deletion	Germline	Loss
FA7b	c.2859+1G>C	In-frame Deletion	Germline	Loss
FA8a	c.175C>T, p.Gln59*	Nonsense	Germline	Loss
FA8b	c.175C>T, p.Gln59*	Nonsense	Germline	Loss
FA8b	c.2375C>T, p.Leu792Pro	Missense	Somatic
2013_Mother	c.3533G>A, p.Trp1178*	Nonsense	Germline	Loss
2013_Mother	c.2438+1G>T	Splicing site	Somatic	Loss
Case24	c.1236delC, p.Phe412fs	Frameshift	Somatic	Loss
Case24	c.2970delA, p.Gly990fs	Frameshift	Somatic
Case25	c.2123+1G>A	Splicing site	Somatic	Loss
Case27	c.1119-1G>C	Splicing site	Somatic	Loss
Moes-Sosnowska, et al. ⁷⁶
	c.2352insG, p.Lys785Glufs*39	Frameshift	Germline	Loss

Abbreviations: NA=not available; UN=unknown.