TABLE 4.
Overview of the six mutations identified in three genes for four patients.
| Category | chr3 | chr4 | chr4 | chr4 | chr4 | chrX |
|---|---|---|---|---|---|---|
| Start | 195,510,749 | 190,883,039 | 190,883,075 | 190,883,080 | 190,883,081 | 66,765,161 |
| End | 195,510,749 | 190,883,039 | 190,883,075 | 190,883,080 | 190,883,081 | 66,765,161 |
| Ref | — | T | C | C | T | — |
| Alt | GGAAGTGTCGGTGACATG AAGAGGGGTGGCATGAC CTGTGGATACTGA |
C | T | A | G | GCAGCA |
| Gene.refGene | MUC4 | FRG1 | FRG1 | FRG1 | FRG1 | AR |
| InterVar_automated | Uncertain significance | Uncertain significance | Uncertain significance | Uncertain significance | ||
| ACMG (missense only) | PM2 | PP3 | PP3 | |||
| Patients detected | 4 | 4 | 4 | 4 | 4 | 4 |
| avsnp150 | rs200007941 | rs199625825 | rs777434347 | rs753433043 |