| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428449G>A | CA1859482 | PROC | c.889G>A (p.Asp297Asn) c.213G>A c.991G>A (p.Asp331Asn) c.1072G>A (p.Asp358Asn) c.1054G>A (p.Asp352Asn) c.952G>A (p.Asp318Asn) n.1332-185C>T c.1132G>A (p.Asp378Asn) c.1234G>A (p.Asp412Asn) c.1174G>A (p.Asp392Asn) n.3607-185C>T n.4043-185C>T c.1057G>A (p.Asp353Asn) c.1075G>A (p.Asp359Asn) c.832G>A (p.Asp278Asn) c.865G>A (p.Asp289Asn) c.883G>A (p.Asp295Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428449G>C | CA1859481 | PROC | c.889G>C (p.Asp297His) c.213G>C c.991G>C (p.Asp331His) c.1072G>C (p.Asp358His) c.1054G>C (p.Asp352His) c.952G>C (p.Asp318His) n.1332-185C>G c.1132G>C (p.Asp378His) c.1234G>C (p.Asp412His) c.1174G>C (p.Asp392His) n.3607-185C>G n.4043-185C>G c.1057G>C (p.Asp353His) c.1075G>C (p.Asp359His) c.832G>C (p.Asp278His) c.865G>C (p.Asp289His) c.883G>C (p.Asp295His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428449G= | CA1286884480 | PROC | c.889G= (p.Asp297=) c.213G= c.991G= (p.Asp331=) c.1072G= (p.Asp358=) c.1054G= (p.Asp352=) c.952G= (p.Asp318=) n.1332-185C= c.1132G= (p.Asp378=) c.1234G= (p.Asp412=) c.1174G= (p.Asp392=) n.3607-185C= n.4043-185C= c.1057G= (p.Asp353=) c.1075G= (p.Asp359=) c.832G= (p.Asp278=) c.865G= (p.Asp289=) c.883G= (p.Asp295=) | dbSNP |