| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11116151T>G | CA10585542 | LDLR | c.1902T>G (p.Asn634Lys) c.1644T>G (p.Asn548Lys) c.1524T>G (p.Asn508Lys) c.1898T>G c.1140T>G (p.Asn380Lys) c.1521T>G (p.Asn507Lys) c.1263T>G (p.Asn421Lys) c.365T>G n.1794T>G n.1761T>G | ClinVar dbSNP |
| 19 | g.11116151T>C | CA505485897 | LDLR | c.1902T>C (p.Asn634=) c.1644T>C (p.Asn548=) c.1524T>C (p.Asn508=) c.1898T>C c.1140T>C (p.Asn380=) c.1521T>C (p.Asn507=) c.1263T>C (p.Asn421=) c.365T>C n.1794T>C n.1761T>C | dbSNP |
| 19 | g.11116151T>A | CA10585541 | LDLR | c.1902T>A (p.Asn634Lys) c.1644T>A (p.Asn548Lys) c.1524T>A (p.Asn508Lys) c.1898T>A c.1140T>A (p.Asn380Lys) c.1521T>A (p.Asn507Lys) c.1263T>A (p.Asn421Lys) c.365T>A n.1794T>A n.1761T>A | ClinVar dbSNP |
| 19 | g.11116151T= | CA2322773274 | LDLR | c.1902T= (p.Asn634=) c.1644T= (p.Asn548=) c.1524T= (p.Asn508=) c.1898T= c.1140T= (p.Asn380=) c.1521T= (p.Asn507=) c.1263T= (p.Asn421=) c.365T= n.1794T= n.1761T= | dbSNP |