Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
12-56666875-G-A | CS | c.1394C>T | p.Ser465Leu | Missense | 11/11 | - |
1-55505604-G-A | PCSK9 | c.94G>A | p.Glu32Lys | Missense | 1/12 | - |
20-3063392-T-G | AVP | c.379A>C | p.Ser127Arg | Missense | 3/3 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
15-75093185-GA-AT | CSK | c.644_645delGAinsAT | p.Arg215His | Missense | 8/13 | - |
1-55509631-T-G | PCSK9 | c.323T>G | p.Leu108Arg | Missense | 2/12 | - |
1-55518071-G-A | PCSK9 | c.644G>A | p.Arg215His | Missense | 4/12 | - |
1-55505652-G-A | PCSK9 | c.142G>A | p.Glu48Lys | Missense | 1/12 | - |
1-55509520-C-T | PCSK9 | c.212C>T | p.Pro71Leu | Missense | 2/12 | - |
1-55524303-C-T | PCSK9 | c.1486C>T | p.Arg496Trp | Missense | 9/12 | - |
19-11215967-G-A | LDLR | c.385G>A | p.Asp129Asn | Missense | 4/18 | - |
12-56679798-C-A | CS | c.103G>T | p.Asp35Tyr | Missense | 3/11 | - |
1-55509693-G-A | PCSK9 | c.385G>A | p.Asp129Asn | Missense | 2/12 | - |
20-3063390-G-T | AVP | c.381C>A | p.Ser127Arg | Missense | 3/3 | - |
20-3063390-G-C | AVP | c.381C>G | p.Ser127Arg | Missense | 3/3 | - |
1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |
12-56669914-TCG-AGC | CS | c.652_654delCGAinsAGC | p.Arg218Ser | Missense | 7/11 | - |
1-55524211-C-T | PCSK9 | c.1394C>T | p.Ser465Leu | Missense | 9/12 | - |
2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
1-55518081-A-C | PCSK9 | c.654A>C | p.Arg218Ser | Missense | 4/12 | - |
1-55509594-C-T | PCSK9 | c.286C>T | p.Arg96Cys | Missense | 2/12 | - |
X-48369869-T-G | PORCN | c.323T>G | p.Leu108Arg | Missense | 3/13 | - |
1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |