Some useful examples to help you get started
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
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
Cancer Variants
Genes
BRCA1, EGFR, HGNC:1097,
ENTREZ:1956, UNIPROT:B7ZA85