Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55523142-TT-GC | PCSK9 | c.1135_1136delTTinsGC | p.Phe379Ala | Missense | 7/12 | - |
1-55523112-AT-GC | PCSK9 | c.1105_1106delATinsGC | p.Ile369Ala | Missense | 7/12 | - |
1-55523107-A-C | PCSK9 | c.1100A>C | p.Asp367Ala | Missense | 7/12 | - |
1-55523128-A-C | PCSK9 | c.1121A>C | p.Asp374Ala | Missense | 7/12 | - |
1-55518007-CG-GC | PCSK9 | c.580_581delCGinsGC | p.Arg194Ala | Missense | 4/12 | - |
1-55512268-CT-GC | PCSK9 | c.472_473delCTinsGC | p.Leu158Ala | Missense | 3/12 | - |
1-55523148-T-G | PCSK9 | c.1141T>G | p.Ser381Ala | Missense | 7/12 | - |
1-55523146-T-C | PCSK9 | c.1139T>C | p.Val380Ala | Missense | 7/12 | - |
1-55518378-A-C | PCSK9 | c.713A>C | p.Asp238Ala | Missense | 5/12 | - |
1-55512259-C-G | PCSK9 | c.463C>G | p.Pro155Ala | Missense | 3/12 | - |
1-55512253-AG-GC | PCSK9 | c.457_458delAGinsGC | p.Ser153Ala | Missense | 3/12 | - |
1-55523151-CA-GC | PCSK9 | c.1144_1145delCAinsGC | p.Gln382Ala | Missense | 7/12 | - |