Table 3.
Cell Line Mutations Not Observed in the Blood Sample of Patients
| Gene | Sample | Status | Mutation Type | Mutation Location | Chr. | Position | Nucleotide Change and Genomic Context | Amino Acid Change | Cell Line Origin |
|---|---|---|---|---|---|---|---|---|---|
| WWC1 | S00056 | AUT | SILENT | INTRONIC | 5 | 167788404 | CAGAAGGAAC(G/A)GTCTGTGTGG | – | UMontreal |
| PLCB1 | S00068 | AUT | MISSENSE | CODING | 20 | 8585862 | GATTTCACTC(C/T)AGAAGTGTAC | P209L | UMontreal |
| PLXNB3 | S00009 | AUT | MISSENSE | CODING | X | 152694010 | GGTGACCTGG(C/T)GGCCCATTAC | A1431V | UMontreal |
| DRP2 | S00093 | AUT | MISSENSE | CODING | X | 100383370 | AAGCAGGCGA(C/T)GGTGGCCAGT | T203M | UMontreal |
| PSMD10 | S00016 | AUT | SILENT | CODING | X | 107217953 | TTGCGGCTTC(T/A)GCTGGCCGGG | S82S | UMontreal |
| MCF2 | S00204 | SCZ | SILENT | INTRONIC | X | 138512219 | TACAGTAATT(A/C)TTCAAGTATT | – | Krebs |
| SLC7A3 | S00218 | SCZ | INDEL | INTRONIC | X | 70064365 | CAGGTCAGTAT(-/A)CAAATGTTTG | InsA 3′ of exon | UMontreal |
| CAMK2A | S00191 | SCZ | MISSENSE | CODING | 5 | 149598465 | CGAGGATGAA(G/A)ACACCAAAGG | D342N, D353N | UMontreal |
| GRPR | S00264 | SCZ | MISSENSE | CODING | X | 16080316 | TCCCGGAAGC(G/T)ACTTGCCAAG | R261L | DeLisi/Coriell |
| ADAM22 | S00193 | SCZ | MISSENSE | CODING | 7 | 87660477 | AAAGTGAACC(G/A)ACAAAGTGCC | R860Q, R889Q, R896Q | UMontreal |
| ARHGAP6 | S00261 | SCZ | MISSENSE | CODING | X | 11592643 | GAGAGTCTCG(G/A)CCCTCGCTTG | G76D | UMontreal |
| ADD2 | S00067 | SCZ | NONSENSE | CODING | 2 | 70744118 | AAAGAAATTC(C/T)GAACCCCCTC | R404X, R710X | UMontreal |
| RPS6KA6 | S00274 | SCZ | SILENT | CODING | X | 83206731 | ATCAGCGGTA(T/C)ACTGCTGAAC | Y672Y | DeLisi/Coriell |