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Gene: COL4A1 & Disease: BONH, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
496637	COL4A1	c.1450C>A	p.Pro484Thr (p.P484T)	NM_001845.6 M	SNV	VUS	1 +	1
496641	COL4A1	c.2842G>A	p.Gly948Ser (p.G948S)	NM_001845.6 M	SNV	P	1 +	1
196327	COL4A1	c.161C>T	p.Pro54Leu (p.P54L)	NM_001845.6 M	SNV	LB	4 +	1
496637	COL4A1	c.1450C>A	p.Pro484Thr (p.P484T)	NM_001303110.2	SNV	VUS	1 +	1
196327	COL4A1	c.161C>T	p.Pro54Leu (p.P54L)	NM_001303110.2	SNV	LB	4 +	1

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