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Table 2 Clearly pathogenic and possibly pathogenic BRCA1 mutations identified

From: Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1gene in Sri Lankan breast cancer patients and at risk individuals

E/I

NT

Base Change

Codon

AA Change

Designation

Variation type

BIC Entry

11-A

856

T>G

246

Leu>TrP

c.856T>G

M-UV

No

11-C

3086

delT

989

Stop999

c.3086delT

F

No

I-18

5194-2

A>T

Non- coding

--

IVS17-2A>T

IVS

Yes

21

5404

delG

1762

Stop1764

c.5404delG

F

No

  1. E/I: Exon/Intron, F: frame shift, M: missense alteration, UV: unclassified variant
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BMC Cancer

ISSN: 1471-2407

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