Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
DNMT3A ENSG00000119772 ENST00000264709 p.R882C c.2644C>T Missense_Mutation -
NHLRC1 ENSG00000187566 ENST00000340650 p.V188V c.564G>A Silent -
DHX36 ENSG00000174953 ENST00000496811 p.R854fs c.2560_2561insA Frame_Shift_Ins -
PRSS36 ENSG00000178226 ENST00000268281 p.S510S c.1530G>C Silent -
CITED1 ENSG00000125931 ENST00000246139 p.G131E c.392G>A Missense_Mutation -
SDK1 ENSG00000146555 ENST00000404826 p.S1530C c.4589C>G Missense_Mutation -
COL5A3 ENSG00000080573 ENST00000264828 p.P275S c.823C>T Missense_Mutation -
KDM3B ENSG00000120733 ENST00000314358 p.P1281P c.3843C>T Silent -
MT-ND4 ENSG00000198886 ENST00000361381 p.L262L c.786T>C Silent -
ADGRL1 ENSG00000072071 ENST00000340736 p.V103M c.307G>A Missense_Mutation -