. 2022 Feb 16;5(2):e2148721. doi: 10.1001/jamanetworkopen.2021.48721

Table 4. Germline Sequence Variations in Patients With Non-PDAC Diseases in the Nanjing Cohort.

Case ID	Sex	Age, y	Disease	Gene	Chromosome position	Amino acid change	Nucleotide change	Function	ClinVar^a	History of other disease	Family history of cancer
P1864	Female	67	IPMN^b	ATM	chr11:108151896	Splice	c.3576 + 1G>A	Noncoding	Likely pathogenic	Negative	Negative
P1056	Male	70	IPMN	RECQL4	chr8:145738229	Splice	c.2755 + 1G>A	Noncoding	Pathogenic	Rectal cancer	Father with liver cancer
P1067	Male	48	IPMN	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P2558	Male	27	IPMN	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P0871	Male	64	AP	ATM	chr11:108202643	p.Phe2558fs	c.7671_7674delGTTT	Frameshift	Pathogenic	Gastric cancer	Negative
P1313	Male	27	AP	CFTR	chr7:117149143	p.Arg74Trp	c.220C>T	Missense	Likely pathogenic	Negative	Negative
P1277	Male	37	AP	CFTR	chr7:117246728	p.Gly970Asp	c.2909G>A	Missense	Likely pathogenic	Negative	Negative
P1290	Female	42	AP	MLH1	chr3:37083822	p.Ser577 =	c.1731G>A	Synonymous	Pathogenic	Colorectal cancer	Negative
P0862	Female	55	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1122	Male	36	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1221	Female	29	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1249	Female	24	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1265	Male	20	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1271	Male	51	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1277	Male	37	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1280	Male	73	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1783	Male	34	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P2494	Female	30	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P2509	Male	44	AP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P2453	Male	49	CP	BRIP1	chr17:59937230	p.Leu43fs	c.128_131delTGTT	Frameshift	Pathogenic	Negative	Negative
P0811	Male	31	CP	PRSS1	chr7:142459789	p.Arg122His	c.365G>A	Missense	Pathogenic	Negative	Negative
P0802	Female	55	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P0808	Male	53	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P0810	Female	38	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P0814	Male	56	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P0815	Female	62	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P0829	Male	13	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1014	Female	27	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1018	Female	44	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1021	Male	52	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1029	Male	37	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1036	Female	41	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1045	Female	62	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1046	Female	15	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1632	Male	75	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1806	Male	55	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1811	Female	52	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P1993	Male	39	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P2453	Male	49	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P2512	Female	68	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P2545	Female	75	CP	PALB2	chr16:23625413	Splice	c.3114-1G>A	Noncoding	Likely pathogenic	Negative	Negative
P0626	Female	54	CP	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative
P2445	Female	13	PNET	BRCA1	chr17:41243677	p.Lys1290fs	c.3869_3870delAA	Frameshift	Pathogenic	Negative	Negative
P1124	Male	45	PNET	CFTR	chr7:117246728	p.Gly970Asp	c.2909G>A	Missense	Likely pathogenic	Negative	Negative
P1862	Female	35	SCN	BRCA2	chr13:32913456	p.Tyr1655Ter	c.4965delC	Nonsense	Pathogenic	Negative	Negative
P2592	Male	53	SCN	CFTR	chr7:117175301	Splice	c.580-1G>T	Noncoding	Pathogenic	Negative	Negative
P0980	Female	36	SPT	ATM	chr11:108121593	p.Lys468fs	c.1402_1403delAA	Frameshift	Pathogenic	Negative	Negative
P1924	Male	22	SPT	PALB2	chr16:23634452	Splice	c.2835-1G>C	Noncoding	Likely pathogenic	Negative	Negative
P1119	Female	39	SPT	SPINK1	chr5:147207583	Splice	c.194 + 2T>C	Noncoding	Pathogenic	Negative	Negative

Abbreviations: AP, acute pancreatitis; CP, chronic pancreatitis; IPMN, intraductal papillary mucinous neoplasm; PDAC, pancreatic ductal adenocarcinomas; PNET, pancreatic neuroendocrine tumor; SCN, serous cystic neoplasm; SPT, solid pseudopapillary tumor.

^{^a}

Pathogenic classification according to the ClinVar database.¹⁵

^{^b}

This patient was diagnosed with IPMN, underwent resection, and developed an invasive cancer during surveillance.