Table 1

NAA10 polyadenylation signal variants identified in microphthalmia/anophthalmia and review of polyadenylation signal alterations as reported in HGMD

Gene	WT*	Variant	HGMD ID	HGMD pathogenicity	ClinVar descriptor	GRCh37 position and variation	ClinVar variation ID	ClinVar assertion	PMID
NAA10		AATAGA				ChrX:153195397T>C
NAA10		GATAAA				ChrX:153195401T>C
NAA10		AGTAAA				ChrX:153195400T>C
BMP1	AGTAAA	AGCAAA	CR150372	DM	NM_001199.3(BMP1):c.*241T>C	Chr8:22058957T>C	190 231	Pathogenic	25214535
F9		AATGAA	CR005437	DM		ChrX:138645598A>G			11013449
FOXP3		AATGAA	CR014834	DM		ChrX:49106919T>C			11685453
FOXP3		AATAAG	CR097218	DM		ChrX:49106917T>C			19471859
GLA	ATTAAAag	ATTAAG	CD031841	DM		ChrX:100652809-100652810del			12796853
HBA2		AATAAG	CR830007	DM		Chr16:223693A>G			6646217
HBA2		AATGAA	CR920785	DM	NM_000517.4(HBA2):c.*92A>G	Chr16:223691A>G	15 647	Pathogenic/Likely Pathogenic	1581238
HBA2		AATAAC	CR106042	DM		Chr16:223693A>C			19912309
HBA2	AATAAAgt	AATAGT	CD941949	DM		Chr16:223692-223693del			7803252
HBB		AAAAAA	CR045224	DM		Chr11:5246718A>T			15481893
HBB		AAGAAA	CR014260	DM		Chr11:5246718A>C			11300343
HBB		AATATA	CR057232	DM		Chr11:5246716T>A			15820953
HBB		AACAAA	CR850010	DM	NM_000518.4(HBB):c.*110T>C	Chr11:5246718A>G	36 332	Pathogenic	4018033
HBB		AATAAG	CR880076	DM	NM_000518.4(HBB):c.*113A>G	Chr11:5246715T>C	15 473	Pathogenic	048433
HBB		AATGAA	CR900265	DM	NM_000518.4(HBB):c.*111A>G	Chr11:5246717T>C	15 488	Pathogenic	2375910
HBB		AATAGA	CR900266	DM	NM_000518.4(HBB):c.*112A>G	Chr11:5246716T>C	15 476	Pathogenic	2375910
HBB		CATAAA	CR016252	DM		Chr11:5246720T>G			11722440
HBB		GATAAA	CR127145	DM		Chr11:5246720T>C			22862814
HBD		AATTAA	CR109506	DM		Chr11:5254085T>A
IGF1	AATATA	AAAATA	CR033689	DM		Chr12:102796022A>T
IL2RG		AATAAG	CR0910465	DM		ChrX:70327278T>C			19841577
INS		AATAAG	CR101141	DM	NM_000207.2(INS):c.*59A>G	Chr11:2181023T>C	65 581	Pathogenic	20133622
ITGA2B		AACAAA	CR153724	DM		Chr17:42449567A>G			25728920
ABCG2		AATAAG	CR1718077	DP		Chr4:89011437T>C			28930109
ARSA	AATAAC	AGTAAC	CR890137	DP	NM_000487.5(ARSA):c.*96A>G	Chr22:51063477T>C	3049	Conflicting	2574462
HES7		AATAAG	CR1510755	DM?		Chr17:8024333T>C			25928698
NAT1		AAAAAA	CR1111021	FP		Chr8:18080644A>T			7585580
PEX6	AATAAAcaca	AACACA	CD1716837	FP		Chr6:42931628-42931631del			29220678
PTGFR		AATGAA	CR156013	DFP		Chr1:79002589A>G			25977569
SLC6A4	ATTAAC	AGTAAC	CR102248	DFP		Chr17:28524804A>C			19969287
TP53		AATACA	CR118782	DFP		Chr17:7571752T>G			21946351

*Wild type is AATAAA unless otherwise specified. Underlined nucleotides are deleted, and the nucleotides given in lower case are shifted into the variant hexamer. Thymidine is specified instead of uracil, referencing the genomic sequence, rather than the mRNA.
HGMD, Human Gene Mutation Database; DM, disease causing mutation; DP, disease-associated polymorphism; DFP, disease-associated polymorphism with supporting functional evidence.