Table 5.

Distinct Genetic Variants Reported in the General Population in SLC51A and SLC51B Categorized by Variant Type.

Genetic Variant Type	SLC51A	SLC51B
3’ UTR Variant	44	73
5’ UTR Variant	83	68
Coding Sequence Variant	68	26
Frameshift Variant	10	9
Inframe Deletion	5	2
Inframe Insertion	2	1
Intron Variant	4,263	1,798
Missense Variant	226	89
Missense Variant~Splice Region Variant	13	3
Protein Altering Variant	1	0
Splice Acceptor Variant	4	3
Splice Acceptor Variant~Intron Variant	2	0
Splice Donor Variant	7	2
Splice Region Variant~5’ UTR Variant	0	2
Splice Region Variant~Coding Sequence Variant	7	0
Splice Region Variant~Intron Variant	46	15
Splice Region Variant~Synonymous Variant	8	1
Start Lost	0	2
Start Retained Variant	1	0
Stop Gained	6	1
Stop Gained~Frameshift Variant	1	0
Stop Lost	1	0
Synonymous Variant	103	28
Total	4,901	2,123

The data were obtained from Ensembl version 92.38. UTR, untranslated region.