Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
19-45411042-G-A | APOE | c.69G>A | p.A23= | Synonymous | 3/4 | - |
19-45411858-C-G | APOE | c.305C>G | p.P102R | Missense | 4/4 | - |
19-45411858-C-T | APOE | c.305C>T | p.P102L | Missense | 4/4 | - |
19-45411963-G-A | APOE | c.410G>A | p.R137H | Missense | 4/4 | - |
19-45412532-C-T | APOE | c.*25C>T | - | 3-UTRSNV | 4/4 | - |
19-45409935-G-A | APOE | c.43+11G>A | - | IntronicSNV | - | 2/3 |
19-45409912-A-G | APOE | c.31A>G | p.T11A | Missense | 2/4 | - |
19-45412048-GCTC-G | APOE | c.500_502delTCC | p.L167del | InFrameDeletion | 4/4 | - |
2-21229160-C-T | APOB | c.10580G>A | p.R3527Q | Missense | 26/29 | - |
19-45411110-T-C | APOE | c.137T>C | p.L46P | Missense | 3/4 | - |
19-45412040-C-T | APOE | c.487C>T | p.R163C | Missense | 4/4 | - |
19-45411802-C-T | APOE | c.249C>T | p.D83= | Synonymous | 4/4 | - |
19-45411962-C-T | APOE | c.409C>T | p.R137C | Missense | 4/4 | - |
20-3063337-C-T | AVP | c.434G>A | p.R145Q | Missense | 3/3 | - |
20-3063308-G-A | AVP | c.463C>T | p.P155S | Missense | 3/3 | - |
19-45412070-C-T | APOE | c.517C>T | p.L173= | Synonymous | 4/4 | - |
8-133885364-C-T | TG | c.536C>T | p.S179L | Missense | 5/48 | - |
19-45412108-C-G | APOE | c.555C>G | p.R185= | Synonymous | 4/4 | - |
19-45412191-T-A | APOE | c.638T>A | p.V213E | Missense | 4/4 | - |
19-45412204-C-G | APOE | c.651C>G | p.A217= | Synonymous | 4/4 | - |
19-45412205-G-T | APOE | c.652G>T | p.G218C | Missense | 4/4 | - |
19-45412298-G-A | APOE | c.745G>A | p.E249K | Missense | 4/4 | - |
19-45412307-G-A | APOE | c.754G>A | p.E252K | Missense | 4/4 | - |
19-45412089-T-C | APOE | c.536T>C | p.V179A | Missense | 4/4 | - |
19-49218088-TGAA-T | MAMSTR | c.500_502delTTC | p.L167del | InFrameDeletion | 6/10 | - |
19-45409923-A-AGCT | APOE | c.43_43+1insCTG | p.A14dup | SpliceDonorInsertion | - | - |
20-3063323-CCAG-C | AVP | c.445_447delCTG | p.L149del | InFrameDeletion | 3/3 | - |
19-45412016-C-T | APOE | c.463C>T | p.L155F | Missense | 4/4 | - |
20-3065252-C-T | AVP | c.69G>A | p.Q23= | Synonymous | 1/3 | - |
20-3063361-C-T | AVP | c.410G>A | p.G137E | Missense | 3/3 | - |
19-45411941-T-C | APOE | c.388T>C | p.C130R | Missense | 4/4 | - |
19-45412079-C-T | APOE | c.526C>T | p.R176C | Missense | 4/4 | - |
19-45412358-C-G | APOE | c.805C>G | p.R269G | Missense | 4/4 | - |
19-11231112-C-T | LDLR | c.2054C>T | p.P685L | Missense | 14/18 | - |
1-241682940-AA-GG | FH | c.82_83delTTinsCC | p.L28P | Missense | 1/10 | - |
19-45411041-C-T | APOE | c.68C>T | p.A23V | Missense | 3/4 | - |
19-45411987-G-A | APOE | c.434G>A | p.G145D | Missense | 4/4 | - |