Summary of pathogenic single nucleotide changes and small deletions/insertions in the FH genes
| Gene | Samples (n) | Nucleotide change | Functional effect | Depth | Quality | Comments |
|---|---|---|---|---|---|---|
| LDLR | 1 | c.326G>A | p.(C109Y) | 43 | 506 | known FH mutation |
| 1 | c.1690A>C | p.(N564H) | 36 | 343 | known FH mutation | |
| 1 | c.1823C>T | p.(P608L) | 82 | 1214 | known FH mutation | |
| 1 | c.2054C>T | p.(P685L) | 20 | 135 | known FH mutation | |
| 1 | c.2479G>A | p.(V827I) | 65 | 749 | known FH mutation | |
| 2 | c.682G>T | p.(E228X) | 13 | 155 | known FH mutation | |
| 1 | c.1048C>T | p.(R350X) | 60 | 816 | known FH mutation | |
| 1 | c.1150C>T | p.(Q384X) | 20 | 275 | known FH mutation | |
| 1 | c.1685G>A | p.(W562X) | 41 | 701 | known FH mutation | |
| 1 | c.2140+1G>A | Splicing | 22 | 258 | known FH mutation | |
| 1 | c.695-6_698del | Splicing | 36 | 1543 | novel | |
| 2 | c.1776_1778del | p.(G592del) | 148 | 2634 | novel | |
| APOB | 1 | c.10277G>A | p.(A3426V) | 192 | 2785 | novel |
| 2 | c.10580C>T | p.(R3527Q) | 161 | 2144 | known FH mutation | |
| PCSK9 | 1 | c.1027G>C | p.(D343H) | 51 | 44 | false positive |
| 1 | c.1028A>C | p.(D343A) | 50 | 201 | false positive | |
| LDLRAP1 | 1 | c.432_433insA | p.(A145KfsX26) | 90 | 2186 | heterozygous |
‘Depth’ refers to the coverage depth; ‘Quality’ values are Phred-like quality scores generated by SAMtools.