List of variants studied for B cell deficiency by Rarefied Biosciences Lab

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)	rs141200414	0.00028
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg)	rs143068130	0.00021
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)	rs141981005	0.00011
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu)	rs369430343	0.00008
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met)	rs370932461	0.00006
NM_005026.5(PIK3CD):c.2206G>A (p.Asp736Asn)	rs547875116	0.00005
NM_005026.5(PIK3CD):c.2461C>T (p.Arg821Cys)	rs140820694	0.00005
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys)	rs762818071	0.00002
NM_005026.5(PIK3CD):c.155G>A (p.Arg52His)	rs772851443	0.00001
NM_005026.5(PIK3CD):c.866A>G (p.Gln289Arg)	rs969868296	0.00001
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln)	rs748784250	0.00001
NM_005026.5(PIK3CD):c.2863C>T (p.Arg955Trp)
NM_005026.5(PIK3CD):c.3057T>A (p.Phe1019Leu)
NM_005026.5(PIK3CD):c.5C>T (p.Pro2Leu)	rs1257745660
NM_181523.3(PIK3R1):c.1891C>T (p.Arg631Ter)
NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)

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