Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127426207C>A | CA428618351 | PROC | c.658C>A (p.Arg220=) c.121-2150C>A c.760C>A (p.Arg254=) n.244C>A c.841C>A (p.Arg281=) c.823C>A (p.Arg275=) c.721C>A (p.Arg241=) c.901C>A (p.Arg301=) c.1003C>A (p.Arg335=) c.943C>A (p.Arg315=) n.4378G>T c.826C>A (p.Arg276=) c.844C>A (p.Arg282=) c.601C>A (p.Arg201=) c.634C>A (p.Arg212=) c.652C>A (p.Arg218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426207C>T | CA114410 | PROC | c.658C>T (p.Arg220Trp) c.121-2150C>T c.760C>T (p.Arg254Trp) n.244C>T c.841C>T (p.Arg281Trp) c.823C>T (p.Arg275Trp) c.721C>T (p.Arg241Trp) c.901C>T (p.Arg301Trp) c.1003C>T (p.Arg335Trp) c.943C>T (p.Arg315Trp) n.4378G>A c.826C>T (p.Arg276Trp) c.844C>T (p.Arg282Trp) c.601C>T (p.Arg201Trp) c.634C>T (p.Arg212Trp) c.652C>T (p.Arg218Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |