Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| BEND7 | ENSG00000165626 | ENST00000341083 | p.S184N | c.551G>A | Missense_Mutation | - |
| MIB1 | ENSG00000101752 | ENST00000261537 | p.S810G | c.2428A>G | Missense_Mutation | - |
| NEB | ENSG00000183091 | ENST00000604864 | p.I7840T | c.23519T>C | Missense_Mutation | - |
| MED13L | ENSG00000123066 | ENST00000281928 | p.M1980T | c.5939T>C | Missense_Mutation | - |
| ZNF226 | ENSG00000167380 | ENST00000590089 | p.S376F | c.1127C>T | Missense_Mutation | - |
| TRPS1 | ENSG00000104447 | ENST00000395715 | p.S213Y | c.638C>A | Missense_Mutation | - |
| FN1 | ENSG00000115414 | ENST00000354785 | p.R938H | c.2813G>A | Missense_Mutation | - |
| -- | false | Missense_Mutation | - | |||
| NEXMIF | ENSG00000050030 | ENST00000055682 | p.E1358D | c.4074G>T | Missense_Mutation | - |
| PRKAR1A | ENSG00000108946 | ENST00000588188 | p.S238S | c.714C>T | Silent | - |