Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55505649-TC-GA | PCSK9 | c.139_140delTCinsGA | p.Ser47Asp | Missense | 1/12 | - |
1-55529180-A-C | PCSK9 | c.2002A>C | p.Ser668Arg | Missense | 12/12 | - |
1-55523729-TCT-GAG | PCSK9 | c.1201_1203delTCTinsGAG | p.Ser401Glu | Missense | 8/12 | - |
1-55523729-T-G | PCSK9 | c.1201T>G | p.Ser401Ala | Missense | 8/12 | - |
1-55529240-TC-GA | PCSK9 | c.2062_2063delTCinsGA | p.Ser688Asp | Missense | 12/12 | - |
1-55529182-C-A | PCSK9 | c.2004C>A | p.Ser668Arg | Missense | 12/12 | - |
1-55529182-C-G | PCSK9 | c.2004C>G | p.Ser668Arg | Missense | 12/12 | - |
1-55509631-T-G | PCSK9 | c.323T>G | p.Leu108Arg | Missense | 2/12 | - |
1-55529180-AGC-GAG | PCSK9 | c.2002_2004delAGCinsGAG | p.Ser668Glu | Missense | 12/12 | - |
1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |
1-55529174-AG-GC | PCSK9 | c.1996_1997delAGinsGC | p.Ser666Ala | Missense | 12/12 | - |
1-55529180-AG-GC | PCSK9 | c.2002_2003delAGinsGC | p.Ser668Ala | Missense | 12/12 | - |
1-55529240-T-G | PCSK9 | c.2062T>G | p.Ser688Ala | Missense | 12/12 | - |
1-55505649-T-G | PCSK9 | c.139T>G | p.Ser47Ala | Missense | 1/12 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
19-11230868-C-T | LDLR | c.1946C>T | p.Pro649Leu | Missense | 13/18 | - |
7-297040-A-C | FAM20C | c.1433A>C | p.Asp478Ala | Missense | 8/10 | - |
1-55529174-AGC-GAG | PCSK9 | c.1996_1998delAGCinsGAG | p.Ser666Glu | Missense | 12/12 | - |
1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |