Some useful examples to help you get started

rs145236923 or GALNT12 D303N or GALNT12:c.907G>A or 9-101594229-G-A

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

BRAF:V600E

15-73027478-T-C, X 153418497 A G

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

chr22:39777823::CAA, 7-151945072--T (insertions)

HAVCR1:c.487 (transcript position), 5:156479558 (genomic position)

BRCA1, EGFR, HGNC:1097, ENTREZ:1956, UNIPROT:B7ZA85 (genes)

NM_002482.3 (transcripts)

or paste a line from a VCF

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