| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428426C>T | CA114408 | PROC | c.866C>T (p.Pro289Leu) c.190C>T c.968C>T (p.Pro323Leu) c.1049C>T (p.Pro350Leu) c.1031C>T (p.Pro344Leu) c.929C>T (p.Pro310Leu) n.1332-162G>A c.1109C>T (p.Pro370Leu) c.1211C>T (p.Pro404Leu) c.1151C>T (p.Pro384Leu) n.3607-162G>A n.4043-162G>A c.1034C>T (p.Pro345Leu) c.1052C>T (p.Pro351Leu) c.809C>T (p.Pro270Leu) c.842C>T (p.Pro281Leu) c.860C>T (p.Pro287Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428426C>G | CA348404530 | PROC | c.866C>G (p.Pro289Arg) c.190C>G c.968C>G (p.Pro323Arg) c.1049C>G (p.Pro350Arg) c.1031C>G (p.Pro344Arg) c.929C>G (p.Pro310Arg) n.1332-162G>C c.1109C>G (p.Pro370Arg) c.1211C>G (p.Pro404Arg) c.1151C>G (p.Pro384Arg) n.3607-162G>C n.4043-162G>C c.1034C>G (p.Pro345Arg) c.1052C>G (p.Pro351Arg) c.809C>G (p.Pro270Arg) c.842C>G (p.Pro281Arg) c.860C>G (p.Pro287Arg) | dbSNP gnomAD v4 |
| 2 | g.127428426C= | CA1286884462 | PROC | c.866C= (p.Pro289=) c.190C= c.968C= (p.Pro323=) c.1049C= (p.Pro350=) c.1031C= (p.Pro344=) c.929C= (p.Pro310=) n.1332-162G= c.1109C= (p.Pro370=) c.1211C= (p.Pro404=) c.1151C= (p.Pro384=) n.3607-162G= n.4043-162G= c.1034C= (p.Pro345=) c.1052C= (p.Pro351=) c.809C= (p.Pro270=) c.842C= (p.Pro281=) c.860C= (p.Pro287=) | dbSNP |