From: LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
Variant a | Protein change | Frequency (gnomAD) b | Location |
---|---|---|---|
c.81C>T | p.Cys27Cys | 0.1232 | exon 2 |
c.190+56G>A | - | 0.06341 | intron 2 |
c.1706-55A>C | - | 0.5890 | intron 11 |
c.1725C>T | p.Leu575Leu | 0.1309 | exon 12 |
c.1773C>T | p.Asn591Asn | 0.4461 | exon 12 |
c.2232A>G | p.Arg744Arg | 0.7534 | exon 15 |
c.2548-42A>G | - | 0.4876 | intron 17 |