Table 1.
Gene Symbol | KRAS | BRAF | PIK3CA | IDH1 | EZH2 | TERT | FLT3 | PTEN | TP53 | RB1 |
---|---|---|---|---|---|---|---|---|---|---|
Transcript ID | NM_004985.5 | NM_004333.6 | NM_006218.4 | NM_005896.4 | NM_004456.4 | NM_198253.3 | NM_004119.3 | NM_000314.6 | NM_000546.5 | NM_000321.2 |
Variant | p.Gly12Ala | p.Pro14Arg | p.Met1? | p.Phe32Val | c.-7-2A>C | c.-124C>T | p.Asp835Tyr | c.-9C>G | p.Pro47Ser | p.Ile124ArgfsTer6 |
p.Gln61Lys | p.Ala31Gly | p.Ile391Met | c.123-4C>T | p.Asp136Val | c.-146C>T | p.Asp835Glu | p.His123Arg | p.Val73Met | p.Ser443Ter | |
p.Ser65Ile | p.Pro403LeufsTer8 | p.Glu418Lys | p.Val71Ile | p.Asp233Gly | c.-124C>A | p.Asp835His | p.Arg130Gln | p.Cys124Ter | c.607+1G>A | |
p.Arg164Gln | p.Asp445His | p.Glu453Lys | p.Arg132His | p.Val626Met | c.-332C>T | p.Asp835Val | p.Thr131Ile | p.Cys135Gly | c.2211+5G>T | |
p.Asn486_Pro490del | p.Glu545Ala | p.Arg132Cys | p.Arg658Thr | c.-245T>C | p.Asp835Ile | p.Leu182Ser | p.Val173Met | c.1216-29A>G | ||
p.Gly469Ala | p.Lys733Arg | p.Arg132Ser | p.Ala682Gly | p.Arg230Ter | p.Asn676Lys | p.Leu193= | p.Glu180Lys | p.Gln689His | ||
p.Gly469Glu | p.His1047Gln | p.Val178Ile | p.Ala682Val | p.Trp581Ter | p.Tyr842Cys | p.Pro204Ala | p.Glu298Lys | p.Ser567Leu | ||
p.Asp594Asn | p.His1047Arg | p.Asp220Gly | p.Arg684Cys | p.Phe691Leu | c.634+5G>C | p.Gly334Arg | p.Trp563Leu | |||
p.Val600Lys | p.His1065Tyr | p.Glu262Lys | p.Arg690His | p.Tyr693Cys | p.Lys322Ter | p.Ala347Asp | p.Arg661Trp | |||
p.Lys601Glu | p.Asn1068LysfsTer5 | p.Ser695Leu | p.Tyr693Asn | p.Pro354Leu | p.His365Tyr | p.Glu554Lys | ||||
p.Tyr731Phe | p.Tyr606Cys | |||||||||
p.Tyr731His | ||||||||||
p.Tyr646Phe |
“p.“ denotes the variant at the protein level, “c.“ denotes the variant at the cDNA level. Note, the first 5 TERT variants are in promoter region and the negative number indicates the number of base pairs upstream of the ATG translation start site.