8-MG-BA

Other names: 8MGBA

Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PRSS36 ENSG00000178226 ENST00000268281 p.R536P c.1607G>C Missense_Mutation -
CACNA1B ENSG00000148408 ENST00000371372 p.A624S c.1870G>T Missense_Mutation -
THOC3 ENSG00000051596 ENST00000514861 p.V14A c.41T>C Missense_Mutation -
-- ENSG00000116386 ENST00000331565 p.L80L c.240C>T Silent -
-- ENSG00000116386 ENST00000331565 p.P595S c.1783C>T Missense_Mutation -
DLGAP1 ENSG00000170579 ENST00000315677 p.A602T c.1804G>A Missense_Mutation -
MPDZ ENSG00000107186 ENST00000319217 p.P355T c.1063C>A Missense_Mutation -
FN1 ENSG00000115414 ENST00000354785 p.T1642T c.4926C>T Silent -
KIFC3 ENSG00000140859 ENST00000379655 p.V455V c.1365C>T Silent -
NLRP4 ENSG00000160505 ENST00000301295 p.V992I c.2974G>A Missense_Mutation -