Skip to main content
. Author manuscript; available in PMC: 2017 Jan 15.
Published in final edited form as: Cancer Res. 2015 Dec 30;76(2):206–215. doi: 10.1158/0008-5472.CAN-15-0295

Table 2.

Germline BAP1 mutations observed in MM cases.

Sample ID DNA Mutation Change Predicted Protein Change Mutation Type
ABS2570 c.233A>G p.78 Asn>Ser Missense
ABS3023 c.1147C>T(rs201844078) p.383 Arg>Cys Missense
ABS3313 c.1748C>T p.583 Ser>Leu Missense
ABS2573 c.1695insT p.Glu566fs*1 In/del, frameshift
ABS2778 c.1717delC p.Leu573fs*3 In/del, frameshift
ABS3428 c.1882_1885delTCAC p.Ser628fs*8 In/del, frameshift
ABS3554 c.1717delC p.Leu573fs*3 In/del, frameshift
MC7039 c.1729+1G>A Unknown Splice site
MC7058 c.1891-1G>A Unknown Splice site