List of variants studied for Porencephaly 2; Hemorrhage, intracerebral, susceptibility to by Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001846.4(COL4A2):c.549+15G>C	rs74124318	0.03560
NM_001846.4(COL4A2):c.594C>T (p.Pro198=)	rs74124319	0.02997
NM_001846.4(COL4A2):c.315+14G>T	rs78713113	0.02155
NM_001846.4(COL4A2):c.732C>T (p.Asp244=)	rs144319016	0.00870
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)	rs62621875	0.00869
NM_001846.4(COL4A2):c.3258G>A (p.Ala1086=)	rs267603756	0.00006
NM_001846.4(COL4A2):c.2395C>T (p.Pro799Ser)	rs376694121	0.00004
NM_001846.4(COL4A2):c.360+1G>A	rs759305120	0.00002
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser)	rs753412782	0.00001
NM_001846.4(COL4A2):c.1363G>A (p.Ala455Thr)
NM_001846.4(COL4A2):c.2594C>G (p.Pro865Arg)
NM_001846.4(COL4A2):c.3206G>A (p.Arg1069Gln)
NM_001846.4(COL4A2):c.3409G>A (p.Gly1137Ser)

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