Table 1. Detailed information on all sequencing samples.
| Family No. | Individual No. | Sex (Male/Female) | Age | Affected (clinical grades of KBD)/Unaffected |
| Family 1 | A0001 (Father) | M | 69 | Affected (I) |
| A0002 (Mother) | F | 68 | Unaffected | |
| A0123 (Daughter) | F | 44 | Affected (II) | |
| Family 2 | A0169 (Father) | M | 43 | Unaffected |
| A0170 (Mother) | F | 39 | Affected (I) | |
| A0171 (Son) | M | 17 | Affected (I) | |
| Family 3 | A0306 (Father) | M | 54 | Affected (I) |
| A0307 (Mother) | F | 51 | Unaffected | |
| A0308 (Daughter) | F | 22 | Affected (I) | |
| Family 4 | A0463 (Father) | M | 66 | Unaffected |
| A0464 (Mother) | F | 63 | Unaffected | |
| A0467 (Son) | M | 35 | Affected (I) | |
| Family 5 | A0521 (Father) | M | 69 | Affected (I) |
| A0522 (Mother) | F | 67 | Unaffected | |
| A0523 (Son) | M | 39 | Affected (I) | |
| Family 6 | A0527 (Father) | M | 49 | Unaffected |
| A0528 (Mother) | F | 46 | Unaffected | |
| A0530 (Son) | M | 19 | Affected (II) | |
| A0531 (Daughter) | F | 17 | Affected (I) |
Note: Diagnosis and grading standards according to Moreno-Reyes, R et al[28]. I denotes mild, IIdenotes moderate, and III denotes severe.