Human placental proteomics and exon variant studies link AAT/SERPINA1 with spontaneous preterm birth

Table 4 Variants of HSPA5 and SERPINA1 identified by whole exome sequencing

Gene symbol	Country	Family ID	Status	Chr^a	Reference allele	Sample allele	rsID	Protein variant	MAF^b European Finnish	MAF^b European non-Finnish	SIFT Function Prediction	PolyPhen-2 Function Prediction
HSPA5	Finland	24	Mother	9	T	C	rs56136100	E557G	0.01341	0.00213	Damaging	Benign
HSPA5	Denmark	60	Mother	9	T	C	rs56136100	E557G	0.01341	0.00213	Damaging	Benign
SERPINA1	Finland	159	Mother	14	C	T	rs28929474	E366K	0.01796	0.01835	Damaging	Probably damaging
SERPINA1	Finland	159	Child	14	C	T	rs28929474	E366K	0.01796	0.01835	Damaging	Probably damaging
SERPINA1	Finland	159	Child	14	C	T	rs28929474	E366K	0.01796	0.01835	Damaging	Probably damaging
SERPINA1	Finland	210	Child	14	C	T	rs28929474	E366K	0.01796	0.01835	Damaging	Probably damaging
SERPINA1	Finland	185	Mother	14	C	T	rs121912712	E387K	0.00278	0.00007	Damaging	Benign
SERPINA1	Denmark	25	Mother	14	G	A	rs28929470	R247C	0.00056	0.00418	Damaging	Possibly damaging

ISSN: 1741-7015