Table 2 –

SETD2 Mutation Types and Mutation Sites

Mutation Type and Location	N	%
Missense Mutations	29	87.9%
p.T592K	2	6.1%
p.T928R	2	6.1%
p.A2350T¤	1	3.0%
p.C714R‡	1	3.0%
p.D1616Y‡	1	3.0%
p.D350N¤	1	3.0%
p.I635V	1	3.0%
p.K1074N	1	3.0%
p.L1357I‡	1	3.0%
p.L600V	1	3.0%
p.M2369R	1	3.0%
p.N2058S	1	3.0%
p.P193L	1	3.0%
p.Q2030†	1	3.0%
p.R1879H	1	3.0%
p.R402Q	1	3.0%
p.S1001C†	1	3.0%
p.S1076C†	1	3.0%
p.S1098F†	1	3.0%
p.S1888I	1	3.0%
p.S803C†	1	3.0%
p.T1033A	1	3.0%
p.T1077A	1	3.0%
p.T1233A	1	3.0%
p.T2421A	1	3.0%
p.V2229A	1	3.0%
p.Y389H	1	3.0%
Nonsense Mutation	2	6.1%
p.S512*†	1	3.0%
p.E2215*¤	1	3.0%
Translation Start Site	2	6.1%

Three patients had multiple mutations. Mutations labeled

^†came from one patient, those labeled with

^‡came from a second patient, and those labeled with

^¤came from a third patient.