Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387483A>C | CA473515691 | KCNJ11 | c.348T>G (p.Gly116=) c.609T>G (p.Gly203=) n.767T>G | |
11 | g.17387483A>G | CA473515692 | KCNJ11 | c.348T>C (p.Gly116=) c.609T>C (p.Gly203=) n.767T>C | |
11 | g.17387483A>T | CA473515693 | KCNJ11 | c.348T>A (p.Gly116=) c.609T>A (p.Gly203=) n.767T>A | |
11 | g.17387484C>A | CA379772207 | KCNJ11 | c.347G>T (p.Gly116Val) c.608G>T (p.Gly203Val) n.766G>T | |
11 | g.17387484C>G | CA379772213 | KCNJ11 | c.347G>C (p.Gly116Ala) c.608G>C (p.Gly203Ala) n.766G>C | |
11 | g.17387484C>T | CA379772217 | KCNJ11 | c.347G>A (p.Gly116Asp) c.608G>A (p.Gly203Asp) n.766G>A | gnomAD v4 |
11 | g.17387485C>A | CA379772225 | KCNJ11 | c.346G>T (p.Gly116Cys) c.607G>T (p.Gly203Cys) n.765G>T | |
11 | g.17387485C>G | CA379772222 | KCNJ11 | c.346G>C (p.Gly116Arg) c.607G>C (p.Gly203Arg) n.765G>C | |
11 | g.17387485C>T | CA379772219 | KCNJ11 | c.346G>A (p.Gly116Ser) c.607G>A (p.Gly203Ser) n.765G>A | COSMIC |
11 | g.17387486C>A | CA473515694 | KCNJ11 | c.345G>T (p.Val115=) c.606G>T (p.Val202=) n.764G>T | |
11 | g.17387486C= | CA1955119276 | KCNJ11 | c.345G= (p.Val115=) c.606G= (p.Val202=) n.764G= | |
11 | g.17387486C>G | CA473515695 | KCNJ11 | c.345G>C (p.Val115=) c.606G>C (p.Val202=) n.764G>C | |
11 | g.17387486C>T | CA473515696 | KCNJ11 | c.345G>A (p.Val115=) c.606G>A (p.Val202=) n.764G>A | ClinVar dbSNP gnomAD v4 |
11 | g.17387487A= | CA1955119277 | KCNJ11 | c.344T= (p.Val115=) c.605T= (p.Val202=) n.763T= | |
11 | g.17387487A>C | CA379772233 | KCNJ11 | c.344T>G (p.Val115Gly) c.605T>G (p.Val202Gly) n.763T>G | |
11 | g.17387487A>G | CA379772238 | KCNJ11 | c.344T>C (p.Val115Ala) c.605T>C (p.Val202Ala) n.763T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387487A>T | CA379772240 | KCNJ11 | c.344T>A (p.Val115Glu) c.605T>A (p.Val202Glu) n.763T>A | |
11 | g.17387488C>A | CA379772248 | KCNJ11 | c.343G>T (p.Val115Leu) c.604G>T (p.Val202Leu) n.762G>T | gnomAD v4 |
11 | g.17387488C>G | CA379772267 | KCNJ11 | c.343G>C (p.Val115Leu) c.604G>C (p.Val202Leu) n.762G>C | |
11 | g.17387488C>T | CA379772272 | KCNJ11 | c.343G>A (p.Val115Met) c.604G>A (p.Val202Met) n.762G>A | gnomAD v4 |
11 | g.17387489A>C | CA473515697 | KCNJ11 | c.342T>G (p.Arg114=) c.603T>G (p.Arg201=) n.761T>G | |
11 | g.17387489A>G | CA473515698 | KCNJ11 | c.342T>C (p.Arg114=) c.603T>C (p.Arg201=) n.761T>C | gnomAD v4 |
11 | g.17387489A>T | CA473515699 | KCNJ11 | c.342T>A (p.Arg114=) c.603T>A (p.Arg201=) n.761T>A | |
11 | g.17387490C>A | CA341724 | KCNJ11 | c.341G>T (p.Arg114Leu) c.602G>T (p.Arg201Leu) n.760G>T | ClinVar dbSNP |
11 | g.17387490C= | CA1955119278 | KCNJ11 | c.341G= (p.Arg114=) c.602G= (p.Arg201=) n.760G= | |
11 | g.17387490C>G | CA379772284 | KCNJ11 | c.341G>C (p.Arg114Pro) c.602G>C (p.Arg201Pro) n.760G>C | gnomAD v4 |
11 | g.17387490C>T | CA119821 | KCNJ11 | c.341G>A (p.Arg114His) c.602G>A (p.Arg201His) n.760G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387491G>A | CA119825 | KCNJ11 | c.340C>T (p.Arg114Cys) c.601C>T (p.Arg201Cys) n.759C>T | ClinVar dbSNP |
11 | g.17387491G>C | CA379772294 | KCNJ11 | c.340C>G (p.Arg114Gly) c.601C>G (p.Arg201Gly) n.759C>G | |
11 | g.17387491G= | CA1955119279 | KCNJ11 | c.340C= (p.Arg114=) c.601C= (p.Arg201=) n.759C= | |
11 | g.17387491G>T | CA379772296 | KCNJ11 | c.340C>A (p.Arg114Ser) c.601C>A (p.Arg201Ser) n.759C>A | |
11 | g.17387492T>A | CA5902274 | KCNJ11 | c.339A>T (p.Leu113=) c.600A>T (p.Leu200=) n.758A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387492T>C | CA473515700 | KCNJ11 | c.339A>G (p.Leu113=) c.600A>G (p.Leu200=) n.758A>G | dbSNP gnomAD v4 |
11 | g.17387492T>G | CA473515701 | KCNJ11 | c.339A>C (p.Leu113=) c.600A>C (p.Leu200=) n.758A>C | |
11 | g.17387492T= | CA1955119280 | KCNJ11 | c.339A= (p.Leu113=) c.600A= (p.Leu200=) n.758A= | |
11 | g.17387493A>C | CA379772326 | KCNJ11 | c.338T>G (p.Leu113Arg) c.599T>G (p.Leu200Arg) n.757T>G | |
11 | g.17387493A>G | CA379772325 | KCNJ11 | c.338T>C (p.Leu113Pro) c.599T>C (p.Leu200Pro) n.757T>C | |
11 | g.17387493A>T | CA379772320 | KCNJ11 | c.338T>A (p.Leu113Gln) c.599T>A (p.Leu200Gln) n.757T>A | |
11 | g.17387494G>A | CA473515702 | KCNJ11 | c.337C>T (p.Leu113=) c.598C>T (p.Leu200=) n.756C>T | |
11 | g.17387494G>C | CA379772327 | KCNJ11 | c.337C>G (p.Leu113Val) c.598C>G (p.Leu200Val) n.756C>G | |
11 | g.17387494G>T | CA379772328 | KCNJ11 | c.337C>A (p.Leu113Ile) c.598C>A (p.Leu200Ile) n.756C>A | |
11 | g.17387495C>A | CA379772330 | KCNJ11 | c.336G>T (p.Met112Ile) c.597G>T (p.Met199Ile) n.755G>T | |
11 | g.17387495C>G | CA379772331 | KCNJ11 | c.336G>C (p.Met112Ile) c.597G>C (p.Met199Ile) n.755G>C | |
11 | g.17387495C>T | CA379772337 | KCNJ11 | c.336G>A (p.Met112Ile) c.597G>A (p.Met199Ile) n.755G>A | |
11 | g.17387496A= | CA1955119281 | KCNJ11 | c.335T= (p.Met112=) c.596T= (p.Met199=) n.754T= | |
11 | g.17387496A>C | CA379772341 | KCNJ11 | c.335T>G (p.Met112Arg) c.596T>G (p.Met199Arg) n.754T>G | dbSNP gnomAD v4 |
11 | g.17387496A>G | CA379772343 | KCNJ11 | c.335T>C (p.Met112Thr) c.596T>C (p.Met199Thr) n.754T>C | |
11 | g.17387496A>T | CA379772344 | KCNJ11 | c.335T>A (p.Met112Lys) c.596T>A (p.Met199Lys) n.754T>A | |
11 | g.17387497T>A | CA379772345 | KCNJ11 | c.334A>T (p.Met112Leu) c.595A>T (p.Met199Leu) n.753A>T | |
11 | g.17387497T>C | CA379772349 | KCNJ11 | c.334A>G (p.Met112Val) c.595A>G (p.Met199Val) n.753A>G | gnomAD v4 |