Table 3

Following three genes were found to contain two or more predicted amino acid altering heterozygous mutation in both the patients.

Reproducibility


Chr

Position

Reference/Variant

Gene

PatientX

PatientY


2

72972139

A/T

SPR

Found

Found

2

72969094

A/G

SPR

Not Found

Found

19

63464322

A/G

ZNF544

Found

Found

19

63464133

C/A

ZNF544

Found

Found

2

27657528

C/T

C2orf16

Found

Found

2

27655701

G/C

C2orf16

Found

Found


The table shows how many of those mutations we reproduced.

Evani et al. BMC Genomics 2012 13(Suppl 6):S19   doi:10.1186/1471-2164-13-S6-S19

Open Data