Skip to main content
. 2018 Mar 5;2018:5298057. doi: 10.1155/2018/5298057

Table 2.

Type of mutations in the families.

Type Family Mutation site Amino acid changes Type of mutation Novel mutation
MYO15A J02 6892C>T p.R2298X Nonsense mutation Novel
J07 9514C>T/7894G>T p.Q3172X/p.V2632L Nonsense mutation/missense mutation Novel
J16 9514C>T p.Q3172X Nonsense mutation Novel

MYO7A J03 1258A>T p.K420X Nonsense mutation Novel

TMC1 J09 773G>A p.G258D Missense mutation Novel
J11 1247T>G/1312G>A p.L416R/p.A438T Missense mutation Reported previously

PCDH15 J08 4658delT p.M1553fs Frameshift mutation Novel
J13 4658delT p.M1553fs Frameshift mutation Novel