List of variants studied for X-linked Alport syndrome by Revvity Omics, Revvity

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)	rs773404950	0.00004
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	rs104886111	0.00001
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)	rs754223700
NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu)	rs104886130
NM_033380.3(COL4A5):c.1949-3_1949delinsAGGATCCCCTGGA
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp)	rs2147820991
NM_033380.3(COL4A5):c.2767+3_2767+14del
NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg)
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)	rs104886255
NM_033380.3(COL4A5):c.3809G>A (p.Gly1270Asp)	rs2147974770
NM_033380.3(COL4A5):c.4055del (p.Pro1352fs)	rs2147980448
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr)	rs1569508382
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
NM_033380.3(COL4A5):c.4970C>A (p.Thr1657Asn)
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)	rs104886450

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