From: Case report: recurrent pituitary adenoma has increased load of somatic variants
Locus | Gene | Minor allele | Aa change | SNP code | SIFT | PolyPhen | gnomAD NFE AF |
---|---|---|---|---|---|---|---|
chr 14:68274264 | ZFYVE26 | T | 246 A/D | rs367929006 | del (0) | possibly dmg (0.79) | 0 |
chr 20:42788571 | JPH2 | C | 286 T/A | rs144022614 | del (0) | possibly dmg (0.45) | 0.14% |
chr11:56380836 | OR5M1 | T | 48 L/Q | rs183262731 | del (0) | probably dmg (1) | 0.55% |
chr22:39222627 | NPTXR | A | 326 R/W | rs34637063 | del (0) | possibly dmg (0.83) | 0.59% |
chr11:533515 | HRAS | A | 130 A/S | COSV54248437 | del (0.04) | possibly dmg (0.71) | – |
chr10:73571765a | CDH23 | C | 3130 F/L | rs45583140/ COSV56481145 | del (0.01) | probably dmg (0.99) | 3.6% |
10:73434888a | CDH23 | C | 495 G/A | rs1227049 | del (0) | probably dmg (1) | 17.2% |