| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298541C>A | CA377641998 | PLCE1 | c.4406C>A (p.Thr1469Asn) c.*1873C>A (n.*1873C>A) n.2065C>A n.749C>A c.*614C>A (n.*614C>A) c.4358C>A (p.Thr1453Asn) n.9538C>A n.3003C>A c.5198C>A (p.Thr1733Asn) c.5282C>A (p.Thr1761Asn) c.5330C>A (p.Thr1777Asn) c.4304C>A (p.Thr1435Asn) c.3885C>A c.3446C>A (p.Thr1149Asn) c.*1263C>A (n.*1263C>A) c.4599C>A c.5372C>A (p.Thr1791Asn) c.5369C>A (p.Thr1790Asn) c.5324C>A (p.Thr1775Asn) c.4448C>A (p.Thr1483Asn) c.4217C>A (p.Thr1406Asn) | dbSNP |
| 10 | g.94298541C>T | CA5613337 | PLCE1 | c.4406C>T (p.Thr1469Ile) c.*1873C>T (n.*1873C>T) n.2065C>T n.749C>T c.*614C>T (n.*614C>T) c.4358C>T (p.Thr1453Ile) n.9538C>T n.3003C>T c.5198C>T (p.Thr1733Ile) c.5282C>T (p.Thr1761Ile) c.5330C>T (p.Thr1777Ile) c.4304C>T (p.Thr1435Ile) c.3885C>T c.3446C>T (p.Thr1149Ile) c.*1263C>T (n.*1263C>T) c.4599C>T c.5372C>T (p.Thr1791Ile) c.5369C>T (p.Thr1790Ile) c.5324C>T (p.Thr1775Ile) c.4448C>T (p.Thr1483Ile) c.4217C>T (p.Thr1406Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94298541C= | CA1928998430 | PLCE1 | c.4406C= (p.Thr1469=) c.*1873C= (n.*1873C=) n.2065C= n.749C= c.*614C= (n.*614C=) c.4358C= (p.Thr1453=) n.9538C= n.3003C= c.5198C= (p.Thr1733=) c.5282C= (p.Thr1761=) c.5330C= (p.Thr1777=) c.4304C= (p.Thr1435=) c.3885C= c.3446C= (p.Thr1149=) c.*1263C= (n.*1263C=) c.4599C= c.5372C= (p.Thr1791=) c.5369C= (p.Thr1790=) c.5324C= (p.Thr1775=) c.4448C= (p.Thr1483=) c.4217C= (p.Thr1406=) | dbSNP |