Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387479G>A | CA379772173 | KCNJ11 | c.352C>T (p.Leu118Phe) c.613C>T (p.Leu205Phe) n.771C>T | ClinVar |
11 | g.17387479G>C | CA379772164 | KCNJ11 | c.352C>G (p.Leu118Val) c.613C>G (p.Leu205Val) n.771C>G | |
11 | g.17387479G>T | CA379772169 | KCNJ11 | c.352C>A (p.Leu118Ile) c.613C>A (p.Leu205Ile) n.771C>A | |
11 | g.17387479_17387480del | CA2612638825 | KCNJ11 | c.351_352del (p.Leu118ProfsTer?) c.612_613del (p.Leu205ProfsTer?) n.770_771del | gnomAD v4 |
11 | g.17387480G>A | CA473515690 | KCNJ11 | c.351C>T (p.Asp117=) c.612C>T (p.Asp204=) n.770C>T | |
11 | g.17387480G>C | CA379772178 | KCNJ11 | c.351C>G (p.Asp117Glu) c.612C>G (p.Asp204Glu) n.770C>G | |
11 | g.17387480G= | CA1955119274 | KCNJ11 | c.351C= (p.Asp117=) c.612C= (p.Asp204=) n.770C= | |
11 | g.17387480G>T | CA218399743 | KCNJ11 | c.351C>A (p.Asp117Glu) c.612C>A (p.Asp204Glu) n.770C>A | ClinVar dbSNP gnomAD v4 |
11 | g.17387481T>A | CA379772188 | KCNJ11 | c.350A>T (p.Asp117Val) c.611A>T (p.Asp204Val) n.769A>T | |
11 | g.17387481T>C | CA379772189 | KCNJ11 | c.350A>G (p.Asp117Gly) c.611A>G (p.Asp204Gly) n.769A>G | |
11 | g.17387481T>G | CA379772191 | KCNJ11 | c.350A>C (p.Asp117Ala) c.611A>C (p.Asp204Ala) n.769A>C | dbSNP |
11 | g.17387481T= | CA1955119275 | KCNJ11 | c.350A= (p.Asp117=) c.611A= (p.Asp204=) n.769A= | |
11 | g.17387482C>A | CA379772196 | KCNJ11 | c.349G>T (p.Asp117Tyr) c.610G>T (p.Asp204Tyr) n.768G>T | |
11 | g.17387482C>G | CA379772197 | KCNJ11 | c.349G>C (p.Asp117His) c.610G>C (p.Asp204His) n.768G>C | |
11 | g.17387482C>T | CA379772201 | KCNJ11 | c.349G>A (p.Asp117Asn) c.610G>A (p.Asp204Asn) n.768G>A | gnomAD v4 |
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= |