From: New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
Software | Variants | Score | Predicted signal |
---|---|---|---|
Mutation taster | NM_015120.4:c.6754G > T | A and A and A, | Disease-causing automatic |
CADD_raw_rankscore | NM_015120.4:c.6754G > T | 0.97008 | damaging |
Mutation taster | NM_015120.4:c.10819C > T | A and A | Disease-causing automatic |
CADD_raw_rankscore | NM_015120.4:c.10819C > T | 0.99936 | damaging |