Mutation Type | Transcript Variant | Protein Variant | No. of subjects with genotype (All heterozygous) | dbSNP ID | ExAC Frequency |
---|---|---|---|---|---|
Synonymous | c.594Cā>āT | p.I198I | 1 | 61,741,819 | 0.003676 |
Synonymous | c.690Cā>āT | p.P230P | 1 | 148,026,669 | 2.472e-05 |
Missense | c.606Cā>āA | p.F202Ā L | 1 | 138,281,308 | 0.0008488 |
Missense | c.307Gā>āA | p.V103I | 4 | 2,229,616 | 0.01743 |
Stop gain | c.124Gā>āT | p.E42 | 0 | ā | ā |