Table 3

HD cases and controls carrying multiple ATM variants

Case no.PhenotypeMutations
Cases with multiplevariants
 25HDL1420F, T1696A
 34HDD1853V, D1853V (HOMOZYGOTE)
 39HDS707P, P1054R
 48HDS707P, D1853N
 52aHDP604S, F1463C, D1853N
 54HD/BCF858L, P1054R
 60HD/BCD1853N, S707P
 68aHDP604S, F1463C, L2307F
 70aHD/BCD1853N, D1853V
Controls with multiple variants
 2011, 1246F858L/P1054R
 1141a, 3230a, 594a, 828aP604S/F1463C
 793D1853N/P1054R
  • a Ashkenazi ancestry.