Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2102397A>C | CA394358492 | PKD1 | c.9185T>G (p.Val3062Gly) n.2264T>G n.829T>G n.601T>G n.494T>G n.922T>G n.3071T>G n.3321T>G c.3747T>G (n.3747T>G) n.3421T>G n.918T>G c.787T>G c.6140T>G (p.Val2047Gly) c.9263T>G (p.Val3088Gly) c.9261+2T>G (n.9261+2T>G) c.9239T>G (p.Val3080Gly) c.9209T>G (p.Val3070Gly) c.9191T>G (p.Val3064Gly) c.9137T>G (p.Val3046Gly) c.9056T>G (p.Val3019Gly) c.8999T>G (p.Val3000Gly) c.7085T>G (p.Val2362Gly) c.6263T>G (p.Val2088Gly) n.9278T>G c.9305T>G (p.Val3102Gly) c.9233T>G (p.Val3078Gly) c.9095T>G (p.Val3032Gly) c.7181T>G (p.Val2394Gly) | ClinVar dbSNP |
16 | g.2102397A>T | CA16043504 | PKD1 | c.9185T>A (p.Val3062Asp) n.2264T>A n.829T>A n.601T>A n.494T>A n.922T>A n.3071T>A n.3321T>A c.3747T>A (n.3747T>A) n.3421T>A n.918T>A c.787T>A c.6140T>A (p.Val2047Asp) c.9263T>A (p.Val3088Asp) c.9261+2T>A (n.9261+2T>A) c.9239T>A (p.Val3080Asp) c.9209T>A (p.Val3070Asp) c.9191T>A (p.Val3064Asp) c.9137T>A (p.Val3046Asp) c.9056T>A (p.Val3019Asp) c.8999T>A (p.Val3000Asp) c.7085T>A (p.Val2362Asp) c.6263T>A (p.Val2088Asp) n.9278T>A c.9305T>A (p.Val3102Asp) c.9233T>A (p.Val3078Asp) c.9095T>A (p.Val3032Asp) c.7181T>A (p.Val2394Asp) | ClinVar dbSNP gnomAD v4 |