| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51659952G>A | CA3851135 | PKHD1 | c.10174C>T (p.Gln3392Ter) c.10045C>T (p.Gln3349Ter) c.10036C>T (p.Gln3346Ter) c.9532C>T (p.Gln3178Ter) c.9463C>T (p.Gln3155Ter) c.10157-10732C>T (n.10157-10732C>T) c.4249C>T (p.Gln1417Ter) n.535+7579G>A n.403+7579G>A c.10099C>T (p.Gln3367Ter) c.9979C>T (p.Gln3327Ter) c.9910C>T (p.Gln3304Ter) c.8314C>T (p.Gln2772Ter) n.10450C>T n.3145+7579G>A n.3013+7579G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51659952G>T | CA3851136 | PKHD1 | c.10174C>A (p.Gln3392Lys) c.10045C>A (p.Gln3349Lys) c.10036C>A (p.Gln3346Lys) c.9532C>A (p.Gln3178Lys) c.9463C>A (p.Gln3155Lys) c.10157-10732C>A (n.10157-10732C>A) c.4249C>A (p.Gln1417Lys) n.535+7579G>T n.403+7579G>T c.10099C>A (p.Gln3367Lys) c.9979C>A (p.Gln3327Lys) c.9910C>A (p.Gln3304Lys) c.8314C>A (p.Gln2772Lys) n.10450C>A n.3145+7579G>T n.3013+7579G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |