| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2091861G>C | CA394333171 | PKD1,PKD1-AS1 | c.11457C>G (p.Tyr3819Ter) c.11454C>G (p.Tyr3818Ter) n.446C>G c.6019C>G (n.6019C>G) c.125-7C>G c.570C>G n.153C>G c.8412C>G (p.Tyr2804Ter) c.11535C>G (p.Tyr3845Ter) c.11532C>G (p.Tyr3844Ter) c.11517C>G (p.Tyr3839Ter) c.11511C>G (p.Tyr3837Ter) c.11508C>G (p.Tyr3836Ter) c.11481C>G (p.Tyr3827Ter) c.11463C>G (p.Tyr3821Ter) c.11409C>G (p.Tyr3803Ter) c.11328C>G (p.Tyr3776Ter) c.11271C>G (p.Tyr3757Ter) c.9357C>G (p.Tyr3119Ter) c.8535C>G (p.Tyr2845Ter) n.11550C>G n.11297C>G n.11410C>G n.89+247G>C n.179+247G>C n.88+253G>C c.11577C>G (p.Tyr3859Ter) c.11505C>G (p.Tyr3835Ter) c.11367C>G (p.Tyr3789Ter) c.9453C>G (p.Tyr3151Ter) | ClinVar dbSNP |
| 16 | g.2091861G>A | CA493044834 | PKD1,PKD1-AS1 | c.11457C>T (p.Tyr3819=) c.11454C>T (p.Tyr3818=) n.446C>T c.6019C>T (n.6019C>T) c.125-7C>T c.570C>T n.153C>T c.8412C>T (p.Tyr2804=) c.11535C>T (p.Tyr3845=) c.11532C>T (p.Tyr3844=) c.11517C>T (p.Tyr3839=) c.11511C>T (p.Tyr3837=) c.11508C>T (p.Tyr3836=) c.11481C>T (p.Tyr3827=) c.11463C>T (p.Tyr3821=) c.11409C>T (p.Tyr3803=) c.11328C>T (p.Tyr3776=) c.11271C>T (p.Tyr3757=) c.9357C>T (p.Tyr3119=) c.8535C>T (p.Tyr2845=) n.11550C>T n.11297C>T n.11410C>T n.89+247G>A n.179+247G>A n.88+253G>A c.11577C>T (p.Tyr3859=) c.11505C>T (p.Tyr3835=) c.11367C>T (p.Tyr3789=) c.9453C>T (p.Tyr3151=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2091861G>T | CA119376 | PKD1,PKD1-AS1 | c.11457C>A (p.Tyr3819Ter) c.11454C>A (p.Tyr3818Ter) n.446C>A c.6019C>A (n.6019C>A) c.125-7C>A c.570C>A n.153C>A c.8412C>A (p.Tyr2804Ter) c.11535C>A (p.Tyr3845Ter) c.11532C>A (p.Tyr3844Ter) c.11517C>A (p.Tyr3839Ter) c.11511C>A (p.Tyr3837Ter) c.11508C>A (p.Tyr3836Ter) c.11481C>A (p.Tyr3827Ter) c.11463C>A (p.Tyr3821Ter) c.11409C>A (p.Tyr3803Ter) c.11328C>A (p.Tyr3776Ter) c.11271C>A (p.Tyr3757Ter) c.9357C>A (p.Tyr3119Ter) c.8535C>A (p.Tyr2845Ter) n.11550C>A n.11297C>A n.11410C>A n.89+247G>T n.179+247G>T n.88+253G>T c.11577C>A (p.Tyr3859Ter) c.11505C>A (p.Tyr3835Ter) c.11367C>A (p.Tyr3789Ter) c.9453C>A (p.Tyr3151Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |