12 | g.5993906C>T | CA228748 | VWF | c.6554G>A (p.Arg2185Gln) n.449G>A
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5993906C>A | CA383490752 | VWF | c.6554G>T (p.Arg2185Leu) n.449G>T
| dbSNP gnomAD v4 |
12 | g.5993906C= | CA2013859871 | VWF | c.6554G= (p.Arg2185=) n.449G=
| dbSNP |