| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28141480C>T | CA7440424 | HERC2 | c.11967G>A (p.Gln3989=) c.3678G>A (p.Gln1226=) c.11853G>A (p.Gln3951=) c.11952G>A (p.Gln3984=) c.11709G>A (p.Gln3903=) c.11484G>A (p.Gln3828=) c.9483G>A (p.Gln3161=) c.8712G>A (p.Gln2904=) c.6084G>A (p.Gln2028=) c.5133G>A (p.Gln1711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141480C= | CA2166479845 | HERC2 | c.11967G= (p.Gln3989=) c.3678G= (p.Gln1226=) c.11853G= (p.Gln3951=) c.11952G= (p.Gln3984=) c.11709G= (p.Gln3903=) c.11484G= (p.Gln3828=) c.9483G= (p.Gln3161=) c.8712G= (p.Gln2904=) c.6084G= (p.Gln2028=) c.5133G= (p.Gln1711=) | dbSNP |