Mutation Type | Nucleotide Change | AA Change | Number of Patients | Phenotype Category | Reference |
|
early truncating | 509_510delAG | E170fsX193 | 1 | early seizures variant | |
|
late truncating | 1090G>T | E364X | 1 | early seizures variant | |
|
early truncating | 163_166delGAAA | R55fsX74 | 1 | early seizures variant | |
|
$nd | 1648C>T | R550X | 1 | early seizures variant | |
|
missense | 211A>G | N71D | 1 | early seizures variant | |
|
missense | 225T>A | I72N | 1 | early seizures variant | |
|
early truncating | 2322-2323delAG | K776Afs*24 | 1 | classic Rett | |
|
late truncating | 2343delG | S781fsX783 | 1 | early seizures variant | |
|
late truncating | 2635_2636delCT | E879fsX908 | 1 | early seizures variant | |
|
missense | 3004 G>A | Val456Ile | 1 | ND (age less than 4 years) | |
|
missense | 395T>G | V132G | 1 | early seizures variant | |
|
early truncating | 1039C>T | Q347X | 1 | early seizures variant | |
|
missense | 446T>C | L149P | 1 | early seizures variant | |
|
missense | 532C>T | R178W | 1 | early seizures variant | |
|
missense | 551T>A | L184H | 1 | early seizures variant | |
|
early truncating | 554+5G>A | G155Afs42X | 1 | early seizures variant | |
|
$nd | 744+1G>C | | 1 | ND (age less than 4 years) | |
|
early truncating | 838_847delTTGGACCCAG | T281fsX284 | 1 | early seizures variant | |
|
missense | 863C>T | T288I | 1 | early seizures variant | |
|
late truncating | 868C>T | Q290X | 1 | early seizures variant | |
|
late truncating | 964dupA | T322NfsX4 | 1 | early seizures variant | |
|
gene deletion | deletion exon 7 and 8 | | 1 | early seizures variant | |
|
gene deletion | | | 1 | early seizures variant | |
|
missense | 397c>t | His133Tyr) | 1 | classic Rett | |
|
gene duplication | | | 0 | | |
|
|