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Familial cosegregation table for case 5
| SACS | SMS | MED12 | |
|---|---|---|---|
| Variant filtering model | AR | XLR | XLR |
| Location of alteration | exon 8 | exon 6 | exon 27 |
| Alteration | c.1562G>C | c.535C>T | c.3797G>A |
| (p.S521T) | (p.R179W) | (p.R1266H) | |
| Affected | |||
| Proband | +/+ | + | + |
| Brother | +/+ | − | + |
| Unaffected | |||
| Father | +/− | − | + |
| Mother | +/− | +/− | +/− |
AR = Autosomal recessive; XLR = X-linked recessive.
