Location | Nucleotide change | Protein change | Allele name | References |
---|---|---|---|---|
Exon 4 | c.682G > C | p.Glu228Gln | FH Tulsa 2/ FH Iraq | 4,15,23–26 |
Exon 11 | c.1670C > G | p.Thr557Ser | – | Novel variant |
Exon 12 | c.1720C > A | p.Arg574Ser | – | 31 |
Exon 13 | c.1855 T > A | p.Phe619Leu | – | 30 |
Exon 15 | c.2289G > T | p.Glu763Asp | – | 32 |