MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature

Table 3 Variation information of exon region and its adjacent ± 20 bp intron region in hereditary endometrial cancer

No.	Gene	Transcript	NV	AAC	GS	Heterozygous	Rs NO.	FC	MT
1	MLH1	NM_000249.3	EX6 DEL	-	EX6	Het	-	Deletion	Kv
2	MLH1	NM_000249.3	c.1151T>A	p.Val384Asp	CDS12	Het	rs63750447	Missense	Bp
3	MUTYH	NM_001128425.1	c.74G>A	p.Gly25Asp	CDS2	Het	rs75321043	Missense	Uv
4	MUTYH	NM_001128425.1	c.53C>T	p.Pro18Leu	CDS2	Het	rs79777494	Missense	Uv
5	MUTYH	NM_001128425.1	c.36+11C>T	-	IN1	Het	rs2275602	Splice	Bp
6	MUTYH	NM_001128425.1	c.1014G>C	p.Gln338His	CDS12	Het	rs3219489	Missense	Bp
7	BRCA1	NM_007294.3	c.2612C>T	p.Pro871Leu	CDS9	Het	rs799917	Missense	Bp
8	BRCA1	NM_007294.3	c.4837A>G	p.Ser1613Gly	CDS14	Het	rs1799966	Missense	Bp
9	BRCA1	NM_007294.3	c.3548A>G	p.Lys1183Arg	CDS9	Het	rs16942	Missense	Bp
10	BRCA1	NM_007294.3	c.3113A>G	p.Glu1038Gly	CDS9	Het	rs16941	Missense	Bp
11	EPCAM	NM_002354.2	c.344T>C	p.Met115Thr	CDS3	Het	rs1126497	Missense	Bp
12	MLH3	NM_014381.2	c.2531C>T	p.Pro844Leu	CDS1	Het	rs175080	Missense	Bp
13	MLH3	NM_014381.2	c.2476A>G	p.Asn826Asp	CDS1	Hom	rs175081	Missense	Bp
14	MSH2	NM_000251.2	c.211+9C>G	-	IN1	Het	rs2303426	Splice	Bp
15	MSH6	NM_000179.2	c.3438+14A>C	-	IN5	Hom	rs2020911	Splice	Bp
16	PMS2	NM_000535.6	c.1408C>T	p.Pro470Ser	CDS11	Het	rs1805321	Missense	Bp
17	PMS2	NM_000535.6	c.2570G>C	p.Gly857Ala	CDS15	Hom	rs1802683	Missense	Bp
18	PMS2	NM_000535.6	c.706-4delT	-	IN6	Het	rs6079473	Splice	Bp
19	PMS2	NM_000535.6	c.59G>A	p.Arg20Gln	CDS2	Het	rs10254120	Missense	Bp
20	PMS2	NM_000535.6	c.1621A>G	p.Lys541Glu	CDS11	Hom	rs2228006	Missense	Bp
21	PMS2	NM_000535.6	c.705+17A>G	-	IN6	Het	rs62456182	Splice	Bp
22	PMS2	NM_000535.6	c.2007-4G>A	-	IN11	Het	rs1805326	Splice	Bp
23	PMS2	NM_000535.6	c.2007-7C>T	-	IN11	Het	rs55954143	Splice	Bp
24	PTEN	NM_000314.6	c.802-3dupT	-	IN7	Het	rs762344516	Splice	Bp
25	TP53	NM_000546.5	c.215C>G	p.Pro72Arg	CDS3	Het	rs1042522	Missense	Bp

EC: Endometrial cancer; NV: Nucleotide variation; AAC: Amino acid changes; GS: Gene subregion; Rs NO.: rs number; FC: Functional changes; MT: Mutation types; Kv: Known variation; Uv: Unknown variation; Bp: Benign polymorphism; Het: Heterozygous; Hom: Homozygous.