Table III.
Mutation, Exon | Mutation, Cases, n | nucleotide | amino acid |
---|---|---|---|
4 | 1 | c.450A>G | p.P150P |
6 | 1 | c.789G>A | p.P263P |
20 | 31 | c.2139T>C | p.A713A |
20 | 3 | c.2160C>T | p.D720D |
20 | 1 | c.2139T>C+ | p.A713A+ |
c.2160C>T | p.D720D | ||
22 | 1 | c.2571G>A | p.R857R |
DNM2, dynamin 2.