Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
MYLIP | ENSG00000007944 | ENST00000356840 | p.T435T | c.1305G>A | Silent | - |
VWF | ENSG00000110799 | ENST00000261405 | p.T1477T | c.4431T>C | Silent | - |
-- | ENSG00000221830 | ENST00000321826 | p.L160V | c.478C>G | Missense_Mutation | - |
PNISR | ENSG00000132424 | ENST00000369239 | p.S211S | c.633A>G | Silent | - |
FUT10 | ENSG00000172728 | ENST00000327671 | p.A264V | c.791C>T | Missense_Mutation | - |
EIF4G3 | ENSG00000075151 | ENST00000264211 | p.P169A | c.505C>G | Missense_Mutation | - |
NUDT12 | ENSG00000112874 | ENST00000230792 | p.F153F | c.459C>T | Silent | - |
BAIAP2L2 | ENSG00000128298 | ENST00000381669 | p.R523H | c.1568G>A | Missense_Mutation | - |
PPM1E | ENSG00000175175 | ENST00000308249 | p.P47S | c.139C>T | Missense_Mutation | - |
HPN | ENSG00000105707 | ENST00000262626 | p.L260V | c.778C>G | Missense_Mutation | - |