Table 2.
Summary of EPCAM deletions
| Family ID | Deletion ID | Deleted EPCAM exons | Annotationa | Distance from MSH2 (kb) | Size (bp) | Alu family | Microhomology region (bp) | Max sequence homology (%) |
|---|---|---|---|---|---|---|---|---|
| PD31 | Del_4.9 | 8‐9 | c.859–1430_*2033del | 13 | 4,909 | Sx/Sq2 | 14 | 84% for 211/250 |
|
AV114 UD18 |
Del_16.5 | 6‐9 | c.556–490_*8438del | 7 | 16,588 | Sp/Sx | 9 | 82% for 196/239 |
| AV182 | Del_2.6 | 8‐9 | c.859–670_*530del | 15 | 2,648 | Sx1/Sx4 | 19 | 79% for 246/312 |
| PD78 | Del_11.5 | 8‐9 | c.858 + 1193_*5826del | 10 | 11,492 | Sp/Sp | 36 | 88% for 260/296 |
a
EPCAM reference sequence NM_002354.2.