Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55511627-CC-CCCC | PCSK9 | c.400-569_400-568dup | - | IntronicInsertion | - | 2/11 |
1-55511628-C-CC | PCSK9 | c.400-568_400-568dup | - | IntronicInsertion | - | 2/11 |
1-203108508-T-C | ADORA1 | c.341+10198T>C | - | IntronicSNV | - | 3/3 |
1-183668577-T-A | RGL1 | c.1-42716T>A | - | IntronicSNV | - | 1/18 |
2-113591275-A-G | IL1B | c.100-123T>C | - | IntronicSNV | - | 3/6 |
2-113590389-C-T | IL1B | c.316G>A | p.Asp106Asn | Missense | 5/7 | - |
2-113590467-C-T | IL1B | c.302-64G>A | - | IntronicSNV | - | 4/6 |
2-113590467-C-G | IL1B | c.302-64G>C | - | IntronicSNV | - | 4/6 |