Variant/genomic Location | Exon | Amio- acid alteration | Database | Software | SIFT | Mutation Taster2.0 | PROVEAN | PANTHER |
---|---|---|---|---|---|---|---|---|
c.509_524del (CAGTGGCTGAAAAACT) Frameshift mutation (Long InDel) | 6 | A170Afs*20 | 1000 G | state | Deleterious | Disease-Causing | Deleterious | Deleterious |
Not found | ||||||||
ExAC | Score | 0.894 | NA | −4.709 | – | |||
Not found |