Full data view for gene BRCA1

All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_007294.3 transcript reference sequence.

174 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
-/- 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
-/- 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
-/- 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Parent #1 - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/. 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/- 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Unknown - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 17i c.5075-53C>T r.(spl?) p.(=) - Parent #2 - VUS g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
-/- 17i c.5075-53C>T r.(=) p.(=) - Unknown kConFab benign g.41216021G>A g.43064004G>A IVS 17-53 C>T - BRCA1_001032 - kConFab variant classification: PM - - Germline - 13/1658 - - - DNA SEQ - - cancer, breast - - 13 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 13 kConFab - Heather Thorne
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown ENIGMA benign g.41216021G>A g.43064004G>A IVS17-53C>T - BRCA1_001032 - - - rs8176258 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 17i c.5075-53C>T r.(?) p.(=) - Parent #1 - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03166 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0458 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0341 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0440 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0450 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0453 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0503 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0533 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0590 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0594 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0619 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0621 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0680 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0715 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0740 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0819 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0868 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0922 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0945 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0948 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0986 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 17i c.5075-53C>T r.(?) p.(=) - Unknown - benign g.41216021G>A g.43064004G>A - - BRCA1_001032 - - - rs8176258 Germline - 64/1900 cases - - - DNA SEQ - - cancer, breast BR0998 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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