Table I.
DNM2 | NOTCH1 | PHF6 | ||||
---|---|---|---|---|---|---|
Patient ID | Mutation | Location | Mutation | Location | Mutation | Location |
Mu1# | c.1081C>T, | exon 8 | c.4732_4734delGTG, | exon 26 | c.820C>T, | exon 8 |
p.R361X | p.V1578delV, | p.R274X | ||||
c.5094C>T, p.D1698D | exon 27 | |||||
Mu2# | c.1453T>C, | exon 13 | c.5033T>C, p.L1678P | exon 27 | c.346C>T, | exon 4 |
p.Y485H | c.7400C>A, p.S2467* | exon 34 | p.R116X | |||
Mu3# | c.1609G>A, | exon 16 | c.4721T>C, p.L1574P | exon 26 | c.385C>T, | exon 5 |
p.G537S | p.R129X | |||||
Mu4# | c.1801C>T, | exon 18 | c.7427G>C, p.V7427L | exon 34 | ||
p.R601W | c.7171delinsTTTT, | |||||
p.Q2391fs*3 |
DNM2, dynamin 2; PHF6, PHD finger protein 6.