Table 5 Haplotypes associated with specific LDLR rearrangements in the Czech population
From: LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
Rearrangement | Haplotype associated with the rearrangement |
|---|---|
Exon2_6dup | exon2_6dup (c.67+3545_940+917dup) – c.940+793_940+795dup – c.1706-55C – c.1725C – c.1773T |
Exon4_8dup | c.81C – exon4_8dup (c.314-443_1187-385dup) – c.1773C |
Exon5_10del | c.694+285C – c.694+341A – exon5_10del (c.695-67_1586+371del) – c.1706-55C – c.1725C – c.1773T |
Exon9_14del | c.81C – c.1186+684C – exon9_14del (c.1186+700_2141-545del) – c.2232G – c.2548-42G |
Exon9_15del | c.81C – c.190+56G – c.1187-269_1187-266TG[4] – exon9_15del (c.1187-169_2312-790del) – c.2312-759_2312-754del – c.2548-42G |
Exon16_18dup | c.1706-55C – c.1725C – c.1773T – exon16_18dup (c.2312-2067_*1216dup) – c.*1216dup |