Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55518081-A-C | PCSK9 | c.654A>C | p.R218S | Missense | 4/12 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
1-55518081-A-T | PCSK9 | c.654A>T | p.R218S | Missense | 4/12 | - |
1-55523127-G-C | PCSK9 | c.1120G>C | p.D374H | Missense | 7/12 | - |
1-55512267-C-G | PCSK9 | c.471C>G | p.N157K | Missense | 3/12 | - |
1-55512267-C-A | PCSK9 | c.471C>A | p.N157K | Missense | 3/12 | - |
1-55509694-A-G | PCSK9 | c.386A>G | p.D129G | Missense | 2/12 | - |
1-55505604-G-A | PCSK9 | c.94G>A | p.E32K | Missense | 1/12 | - |
19-45412048-GCTC-G | APOE | c.500_502delTCC | p.L167del | InFrameDeletion | 4/4 | - |
19-11224300-G-A | LDLR | c.1448G>A | p.W483* | Nonsense | 10/18 | - |
1-55512299-C-A | PCSK9 | c.503C>A | p.A168E | Missense | 3/12 | - |
19-11224301-G-A | LDLR | c.1449G>A | p.W483* | Nonsense | 10/18 | - |
7-107848050-C-A | NRCAM | c.1129G>T | p.D377Y | Missense | 13/33 | - |
1-25880491-C-T | LDLRAP1 | c.167C>T | p.T56M | Missense | 2/9 | - |
19-11224299-T-G | LDLR | c.1447T>G | p.W483G | Missense | 10/18 | - |
20-3063390-G-C | AVP | c.381C>G | p.S127R | Missense | 3/3 | - |
20-3063390-G-T | AVP | c.381C>A | p.S127R | Missense | 3/3 | - |
20-3063392-T-G | AVP | c.379A>C | p.S127R | Missense | 3/3 | - |