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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
-- ENSG00000196826 ENST00000339282 p.T294I c.881C>T Missense_Mutation -
MVD ENSG00000167508 ENST00000301012 p.A387S c.1159G>T Missense_Mutation -
OR5A1 ENSG00000172320 ENST00000302030 p.L218H c.653T>A Missense_Mutation -
-- ENSG00000187919 ENST00000334575 p.L160L c.480G>A Silent -
ABI2 ENSG00000138443 ENST00000422511 p.S254G c.760A>G Missense_Mutation -
MLXIP ENSG00000175727 ENST00000319080 p.N748S c.2243A>G Missense_Mutation -
TMEM169 ENSG00000163449 ENST00000295658 NA NA De_novo_Start_OutOfFrame -
HPD ENSG00000158104 ENST00000289004 p.N259K c.777C>A Missense_Mutation -
ELMO1 ENSG00000155849 ENST00000310758 p.S95S c.285G>C Silent -
RRP12 ENSG00000052749 ENST00000370992 p.R1102L c.3305G>T Missense_Mutation -