Family ID | Variation | Exon | Bioinformatics Analysis | Conservation Analysis | Frequency in Databases | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Nucleotide* | Amino Acid | Type | Status | SIFT | PolyPhen-2 | Mutationtaster | 1000G (Al l) | 1000G (EAS) | gnomAD (All) | gnomAD (EAS) | TOPMed | |||
CS08 | c.335A > G | p. Q112R | M | Het | 4 | Damaging /0.004 | Prob /0.955 | Disease causing | Conserved | None | None | 0.00002389 | 0.0003262 | None |
CS06 | c.7274A > G | p. D2425G | M | Het | 39 | Damaging /0.003 | Prob /0.819 | Disease causing | Conserved | None | None | None | None | None |