Germline Variants

rs746753722 or CLN6 E227K or NM_017882.3(CLN6):c.679G>A or 15:68500735:C:T

TP53:R175L or NM_000546:R175L or NM_000546(TP53):p.Arg175Leu or TP53:c.524G>T or chr17-7578406-C-A or rs28934578

rs113488022, rs376932266

BRAF:c.1799T>G, FTO:c.46-43098T>C,

SYNGR1:c.607_608insACA,  
BAIAP2L2:c.1322_1363del

15-73027478-T-C, X 153418497 A G

Deletions

chr2-131129929-GACGGG-, chr13-38320595-AA-, 5:156479558:15:

Insertions

chr22:39777823::CAA, 7-151945072--T

Cancer Variants

with AMP classification

BRAF:V600E

KRAS:G12D

TP53:R273H

Genes

BRCA1, EGFR, HGNC:1097, 
ENTREZ:1956, UNIPROT:B7ZA85

Transcripts

NM_001276760

Transcript / Genomic Position

HAVCR1:c.487 
5:156479558