Germline Variants

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

TP53:R175L or NM_000546:R175L or NM_000546(TP53):p.Arg175Leu or TP53:c.524G>T or chr17-7675088-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:CTGAAA:, chr13:38320595:GT:, 5:156479558:15:

Insertions

chr22:39777823::CAA, 7-151945072--T

CNVs

chr17:37800000:L100000:DUP, chr11:21200000:L90000:DEL, chr7:117138367:117159446:DEL, 

chr3:37039445:37059613:DUP, chr21:36160098:36171759:DEL, chr1:110230496:110235917:DUP, 

chr21:36160098:36171759:DEL, chr17:43098764:43110978:DEL, chr13:32317656:32331987:DUP,

chr8:127734450:127764981:DUP, chr1:13308329:13308887:DEL

Single Reads - NGS or Sanger New!

AGTCCRAGTTGTAAATGGTACACTCGGCGTAAGCCTGAAAAGATAAAATCAAAGATGTAAAGGTGAGCACAGTCTAAGTTCTCTCTGAAGTGTCAATGGGAATGCAGATTGGATTAAATAAATGCTGCCCAAGTGCATACTCAAAGAGGC

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