Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2583435G>A | CA379132950 | KCNQ1 | c.661G>A (p.Val221Ile) c.478G>A (p.Val160Ile) c.922G>A (p.Val308Ile) c.541G>A (p.Val181Ile) c.124G>A (p.Val42Ile) | |
11 | g.2583435G>C | CA379132951 | KCNQ1 | c.661G>C (p.Val221Leu) c.478G>C (p.Val160Leu) c.922G>C (p.Val308Leu) c.541G>C (p.Val181Leu) c.124G>C (p.Val42Leu) | |
11 | g.2583435G>T | CA379132952 | KCNQ1 | c.661G>T (p.Val221Phe) c.478G>T (p.Val160Phe) c.922G>T (p.Val308Phe) c.541G>T (p.Val181Phe) c.124G>T (p.Val42Phe) | |
11 | g.2583436T>A | CA008698 | KCNQ1 | c.662T>A (p.Val221Asp) c.479T>A (p.Val160Asp) c.923T>A (p.Val308Asp) c.542T>A (p.Val181Asp) c.125T>A (p.Val42Asp) | ClinVar dbSNP |
11 | g.2583436T>C | CA379132953 | KCNQ1 | c.662T>C (p.Val221Ala) c.479T>C (p.Val160Ala) c.923T>C (p.Val308Ala) c.542T>C (p.Val181Ala) c.125T>C (p.Val42Ala) | gnomAD v4 |
11 | g.2583436T>G | CA379132954 | KCNQ1 | c.662T>G (p.Val221Gly) c.479T>G (p.Val160Gly) c.923T>G (p.Val308Gly) c.542T>G (p.Val181Gly) c.125T>G (p.Val42Gly) | |
11 | g.2583436T= | CA1948224556 | KCNQ1 | c.662T= (p.Val221=) c.479T= (p.Val160=) c.923T= (p.Val308=) c.542T= (p.Val181=) c.125T= (p.Val42=) | |
11 | g.2583437C>A | CA472038393 | KCNQ1 | c.663C>A (p.Val221=) c.480C>A (p.Val160=) c.924C>A (p.Val308=) c.543C>A (p.Val181=) c.126C>A (p.Val42=) | |
11 | g.2583437C>G | CA472038395 | KCNQ1 | c.663C>G (p.Val221=) c.480C>G (p.Val160=) c.924C>G (p.Val308=) c.543C>G (p.Val181=) c.126C>G (p.Val42=) | |
11 | g.2583437C>T | CA472038394 | KCNQ1 | c.663C>T (p.Val221=) c.480C>T (p.Val160=) c.924C>T (p.Val308=) c.543C>T (p.Val181=) c.126C>T (p.Val42=) | |
11 | g.2583439_2583440del | CA2574728171 | KCNQ1 | c.665_666del (p.Thr222SerfsTer?) c.482_483del (p.Thr161SerfsTer?) c.926_927del (p.Thr309SerfsTer?) c.545_546del (p.Thr182SerfsTer?) c.128_129del (p.Thr43SerfsTer?) | |
11 | g.2583438A= | CA1948224564 | KCNQ1 | c.664A= (p.Thr222=) c.481A= (p.Thr161=) c.925A= (p.Thr309=) c.544A= (p.Thr182=) c.127A= (p.Thr43=) | |
11 | g.2583438A>C | CA379132955 | KCNQ1 | c.664A>C (p.Thr222Pro) c.481A>C (p.Thr161Pro) c.925A>C (p.Thr309Pro) c.544A>C (p.Thr182Pro) c.127A>C (p.Thr43Pro) | |
11 | g.2583438A>G | CA379132956 | KCNQ1 | c.664A>G (p.Thr222Ala) c.481A>G (p.Thr161Ala) c.925A>G (p.Thr309Ala) c.544A>G (p.Thr182Ala) c.127A>G (p.Thr43Ala) | |
11 | g.2583438A>T | CA008706 | KCNQ1 | c.664A>T (p.Thr222Ser) c.481A>T (p.Thr161Ser) c.925A>T (p.Thr309Ser) c.544A>T (p.Thr182Ser) c.127A>T (p.Thr43Ser) | ClinVar dbSNP |
11 | g.2583439C>A | CA379132957 | KCNQ1 | c.665C>A (p.Thr222Lys) c.482C>A (p.Thr161Lys) c.926C>A (p.Thr309Lys) c.545C>A (p.Thr182Lys) c.128C>A (p.Thr43Lys) | |
11 | g.2583439C= | CA1948224569 | KCNQ1 | c.665C= (p.Thr222=) c.482C= (p.Thr161=) c.926C= (p.Thr309=) c.545C= (p.Thr182=) c.128C= (p.Thr43=) | |
11 | g.2583439C>G | CA008712 | KCNQ1 | c.665C>G (p.Thr222Arg) c.482C>G (p.Thr161Arg) c.926C>G (p.Thr309Arg) c.545C>G (p.Thr182Arg) c.128C>G (p.Thr43Arg) | ClinVar dbSNP |
11 | g.2583439C>T | CA008720 | KCNQ1 | c.665C>T (p.Thr222Ile) c.482C>T (p.Thr161Ile) c.926C>T (p.Thr309Ile) c.545C>T (p.Thr182Ile) c.128C>T (p.Thr43Ile) | ClinVar dbSNP |
11 | g.2583440A>C | CA472038396 | KCNQ1 | c.666A>C (p.Thr222=) c.483A>C (p.Thr161=) c.927A>C (p.Thr309=) c.546A>C (p.Thr182=) c.129A>C (p.Thr43=) | |
11 | g.2583440A>G | CA472038397 | KCNQ1 | c.666A>G (p.Thr222=) c.483A>G (p.Thr161=) c.927A>G (p.Thr309=) c.546A>G (p.Thr182=) c.129A>G (p.Thr43=) | gnomAD v4 |
11 | g.2583440A>T | CA472038398 | KCNQ1 | c.666A>T (p.Thr222=) c.483A>T (p.Thr161=) c.927A>T (p.Thr309=) c.546A>T (p.Thr182=) c.129A>T (p.Thr43=) | COSMIC |
11 | g.2583441G>A | CA008728 | KCNQ1 | c.667G>A (p.Val223Ile) c.484G>A (p.Val162Ile) c.928G>A (p.Val310Ile) c.547G>A (p.Val183Ile) c.130G>A (p.Val44Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.2583441G>C | CA379132958 | KCNQ1 | c.667G>C (p.Val223Leu) c.484G>C (p.Val162Leu) c.928G>C (p.Val310Leu) c.547G>C (p.Val183Leu) c.130G>C (p.Val44Leu) | |
11 | g.2583441G= | CA1948224599 | KCNQ1 | c.667G= (p.Val223=) c.484G= (p.Val162=) c.928G= (p.Val310=) c.547G= (p.Val183=) c.130G= (p.Val44=) | |
11 | g.2583441G>T | CA379132959 | KCNQ1 | c.667G>T (p.Val223Phe) c.484G>T (p.Val162Phe) c.928G>T (p.Val310Phe) c.547G>T (p.Val183Phe) c.130G>T (p.Val44Phe) | |
11 | g.2583442T>A | CA008737 | KCNQ1 | c.668T>A (p.Val223Asp) c.485T>A (p.Val162Asp) c.929T>A (p.Val310Asp) c.548T>A (p.Val183Asp) c.131T>A (p.Val44Asp) | ClinVar dbSNP |
11 | g.2583442T>C | CA379132960 | KCNQ1 | c.668T>C (p.Val223Ala) c.485T>C (p.Val162Ala) c.929T>C (p.Val310Ala) c.548T>C (p.Val183Ala) c.131T>C (p.Val44Ala) | |
11 | g.2583442T>G | CA379132961 | KCNQ1 | c.668T>G (p.Val223Gly) c.485T>G (p.Val162Gly) c.929T>G (p.Val310Gly) c.548T>G (p.Val183Gly) c.131T>G (p.Val44Gly) | |
11 | g.2583442T= | CA1948224606 | KCNQ1 | c.668T= (p.Val223=) c.485T= (p.Val162=) c.929T= (p.Val310=) c.548T= (p.Val183=) c.131T= (p.Val44=) | |
11 | g.2583442_2583445delinsTCAC | CA1948224610 | KCNQ1 | c.668_671delinsTCAC (p.Val223=) c.485_488delinsTCAC (p.Val162=) c.929_932delinsTCAC (p.Val310=) c.548_551delinsTCAC (p.Val183=) c.131_134delinsTCAC (p.Val44=) | |
11 | g.2583443C>A | CA041690 | KCNQ1 | c.669C>A (p.Val223=) c.486C>A (p.Val162=) c.930C>A (p.Val310=) c.549C>A (p.Val183=) c.132C>A (p.Val44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583443C= | CA1948224621 | KCNQ1 | c.669C= (p.Val223=) c.486C= (p.Val162=) c.930C= (p.Val310=) c.549C= (p.Val183=) c.132C= (p.Val44=) | |
11 | g.2583443C>G | CA472038399 | KCNQ1 | c.669C>G (p.Val223=) c.486C>G (p.Val162=) c.930C>G (p.Val310=) c.549C>G (p.Val183=) c.132C>G (p.Val44=) | |
11 | g.2583443C>T | CA472038400 | KCNQ1 | c.669C>T (p.Val223=) c.486C>T (p.Val162=) c.930C>T (p.Val310=) c.549C>T (p.Val183=) c.132C>T (p.Val44=) | |
11 | g.2583448_2583450del | CA891843060 | KCNQ1 | c.674_676del (p.Thr225del) c.491_493del (p.Thr164del) c.935_937del (p.Thr312del) c.554_556del (p.Thr185del) c.137_139del (p.Thr46del) | dbSNP |
11 | g.2583444del | CA2580082599 | KCNQ1 | c.670del (p.Thr224ProfsTer?) c.487del (p.Thr163ProfsTer?) c.931del (p.Thr311ProfsTer?) c.550del (p.Thr184ProfsTer?) c.133del (p.Thr45ProfsTer?) | ClinVar |
11 | g.2583444A= | CA1948224627 | KCNQ1 | c.670A= (p.Thr224=) c.487A= (p.Thr163=) c.931A= (p.Thr311=) c.550A= (p.Thr184=) c.133A= (p.Thr45=) | |
11 | g.2583444A>C | CA379132962 | KCNQ1 | c.670A>C (p.Thr224Pro) c.487A>C (p.Thr163Pro) c.931A>C (p.Thr311Pro) c.550A>C (p.Thr184Pro) c.133A>C (p.Thr45Pro) | |
11 | g.2583444A>G | CA008744 | KCNQ1 | c.670A>G (p.Thr224Ala) c.487A>G (p.Thr163Ala) c.931A>G (p.Thr311Ala) c.550A>G (p.Thr184Ala) c.133A>G (p.Thr45Ala) | ClinVar dbSNP |
11 | g.2583444A>T | CA379132963 | KCNQ1 | c.670A>T (p.Thr224Ser) c.487A>T (p.Thr163Ser) c.931A>T (p.Thr311Ser) c.550A>T (p.Thr184Ser) c.133A>T (p.Thr45Ser) | |
11 | g.2583445C>A | CA379132964 | KCNQ1 | c.671C>A (p.Thr224Asn) c.488C>A (p.Thr163Asn) c.932C>A (p.Thr311Asn) c.551C>A (p.Thr184Asn) c.134C>A (p.Thr45Asn) | gnomAD v4 |
11 | g.2583445C= | CA1948224634 | KCNQ1 | c.671C= (p.Thr224=) c.488C= (p.Thr163=) c.932C= (p.Thr311=) c.551C= (p.Thr184=) c.134C= (p.Thr45=) | |
11 | g.2583445C>G | CA379132965 | KCNQ1 | c.671C>G (p.Thr224Ser) c.488C>G (p.Thr163Ser) c.932C>G (p.Thr311Ser) c.551C>G (p.Thr184Ser) c.134C>G (p.Thr45Ser) | |
11 | g.2583445C>T | CA008752 | KCNQ1 | c.671C>T (p.Thr224Ile) c.488C>T (p.Thr163Ile) c.932C>T (p.Thr311Ile) c.551C>T (p.Thr184Ile) c.134C>T (p.Thr45Ile) | ClinVar dbSNP gnomAD v2 |
11 | g.2583446C>A | CA472038401 | KCNQ1 | c.672C>A (p.Thr224=) c.489C>A (p.Thr163=) c.933C>A (p.Thr311=) c.552C>A (p.Thr184=) c.135C>A (p.Thr45=) | COSMIC COSMIC |
11 | g.2583446C>G | CA472038402 | KCNQ1 | c.672C>G (p.Thr224=) c.489C>G (p.Thr163=) c.933C>G (p.Thr311=) c.552C>G (p.Thr184=) c.135C>G (p.Thr45=) | |
11 | g.2583446C>T | CA472038403 | KCNQ1 | c.672C>T (p.Thr224=) c.489C>T (p.Thr163=) c.933C>T (p.Thr311=) c.552C>T (p.Thr184=) c.135C>T (p.Thr45=) | |
11 | g.2583447del | CA645569428 | KCNQ1 | c.673del (p.Thr225ProfsTer?) c.490del (p.Thr164ProfsTer?) c.934del (p.Thr312ProfsTer?) c.553del (p.Thr185ProfsTer?) c.136del (p.Thr46ProfsTer?) | COSMIC COSMIC |
11 | g.2583447A= | CA1948224649 | KCNQ1 | c.673A= (p.Thr225=) c.490A= (p.Thr164=) c.934A= (p.Thr312=) c.553A= (p.Thr185=) c.136A= (p.Thr46=) |