| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444708del | CA2573157296 | KCNQ2 | c.644del (p.Gly215GlufsTer?) n.382del n.38del c.125del (p.Gly42GlufsTer?) c.302del (p.Gly101GlufsTer?) n.770del n.486del c.9del c.65del (p.Gly22GlufsTer?) n.469del c.644del (p.Gly215GlufsTer19) c.575del (p.Gly192GlufsTer?) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444706C>A | CA409654731 | KCNQ2 | c.643G>T (p.Gly215Ter) n.381G>T n.37G>T c.124G>T (p.Gly42Ter) c.301G>T (p.Gly101Ter) n.769G>T n.485G>T c.8G>T c.64G>T (p.Gly22Ter) n.468G>T c.574G>T (p.Gly192Ter) | gnomAD v4 |
| 20 | g.63444706C= | CA2374795919 | KCNQ2 | c.643G= (p.Gly215=) n.381G= n.37G= c.124G= (p.Gly42=) c.301G= (p.Gly101=) n.769G= n.485G= c.8G= c.64G= (p.Gly22=) n.468G= c.574G= (p.Gly192=) | |
| 20 | g.63444706C>G | CA409654732 | KCNQ2 | c.643G>C (p.Gly215Arg) n.381G>C n.37G>C c.124G>C (p.Gly42Arg) c.301G>C (p.Gly101Arg) n.769G>C n.485G>C c.8G>C c.64G>C (p.Gly22Arg) n.468G>C c.574G>C (p.Gly192Arg) | |
| 20 | g.63444706C>T | CA10654823 | KCNQ2 | c.643G>A (p.Gly215Arg) n.381G>A n.37G>A c.124G>A (p.Gly42Arg) c.301G>A (p.Gly101Arg) n.769G>A n.485G>A c.8G>A c.64G>A (p.Gly22Arg) n.468G>A c.574G>A (p.Gly192Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444707C>A | CA511211283 | KCNQ2 | c.642G>T (p.Arg214=) n.380G>T n.36G>T c.123G>T (p.Arg41=) c.300G>T (p.Arg100=) n.768G>T n.484G>T c.7G>T c.63G>T (p.Arg21=) n.467G>T c.573G>T (p.Arg191=) | gnomAD v4 |
| 20 | g.63444707C= | CA2374795929 | KCNQ2 | c.642G= (p.Arg214=) n.380G= n.36G= c.123G= (p.Arg41=) c.300G= (p.Arg100=) n.768G= n.484G= c.7G= c.63G= (p.Arg21=) n.467G= c.573G= (p.Arg191=) | |
| 20 | g.63444707C>G | CA511211285 | KCNQ2 | c.642G>C (p.Arg214=) n.380G>C n.36G>C c.123G>C (p.Arg41=) c.300G>C (p.Arg100=) n.768G>C n.484G>C c.7G>C c.63G>C (p.Arg21=) n.467G>C c.573G>C (p.Arg191=) | gnomAD v4 |
| 20 | g.63444707C>T | CA9958771 | KCNQ2 | c.642G>A (p.Arg214=) n.380G>A n.36G>A c.123G>A (p.Arg41=) c.300G>A (p.Arg100=) n.768G>A n.484G>A c.7G>A c.63G>A (p.Arg21=) n.467G>A c.573G>A (p.Arg191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63444708C>A | CA409654733 | KCNQ2 | c.641G>T (p.Arg214Leu) n.379G>T n.35G>T c.122G>T (p.Arg41Leu) c.299G>T (p.Arg100Leu) n.767G>T n.483G>T c.6G>T c.62G>T (p.Arg21Leu) n.466G>T c.572G>T (p.Arg191Leu) | gnomAD v4 |
| 20 | g.63444708C= | CA2374795935 | KCNQ2 | c.641G= (p.Arg214=) n.379G= n.35G= c.122G= (p.Arg41=) c.299G= (p.Arg100=) n.767G= n.483G= c.6G= c.62G= (p.Arg21=) n.466G= c.572G= (p.Arg191=) | |
| 20 | g.63444708C>G | CA16043158 | KCNQ2 | c.641G>C (p.Arg214Pro) n.379G>C n.35G>C c.122G>C (p.Arg41Pro) c.299G>C (p.Arg100Pro) n.767G>C n.483G>C c.6G>C c.62G>C (p.Arg21Pro) n.466G>C c.572G>C (p.Arg191Pro) | ClinVar dbSNP |
| 20 | g.63444708C>T | CA409654734 | KCNQ2 | c.641G>A (p.Arg214Gln) n.379G>A n.35G>A c.122G>A (p.Arg41Gln) c.299G>A (p.Arg100Gln) n.767G>A n.483G>A c.6G>A c.62G>A (p.Arg21Gln) n.466G>A c.572G>A (p.Arg191Gln) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444709G>A | CA245495 | KCNQ2 | c.640C>T (p.Arg214Trp) n.378C>T n.34C>T c.121C>T (p.Arg41Trp) c.298C>T (p.Arg100Trp) n.766C>T n.482C>T c.5C>T c.61C>T (p.Arg21Trp) n.465C>T c.571C>T (p.Arg191Trp) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444709G>C | CA409654735 | KCNQ2 | c.640C>G (p.Arg214Gly) n.378C>G n.34C>G c.121C>G (p.Arg41Gly) c.298C>G (p.Arg100Gly) n.766C>G n.482C>G c.5C>G c.61C>G (p.Arg21Gly) n.465C>G c.571C>G (p.Arg191Gly) | |
| 20 | g.63444709G= | CA2374795940 | KCNQ2 | c.640C= (p.Arg214=) n.378C= n.34C= c.121C= (p.Arg41=) c.298C= (p.Arg100=) n.766C= n.482C= c.5C= c.61C= (p.Arg21=) n.465C= c.571C= (p.Arg191=) | |
| 20 | g.63444709G>T | CA511211293 | KCNQ2 | c.640C>A (p.Arg214=) n.378C>A n.34C>A c.121C>A (p.Arg41=) c.298C>A (p.Arg100=) n.766C>A n.482C>A c.5C>A c.61C>A (p.Arg21=) n.465C>A c.571C>A (p.Arg191=) | gnomAD v4 |
| 20 | g.63444710C>A | CA511211295 | KCNQ2 | c.639G>T (p.Arg213=) n.377G>T n.33G>T c.120G>T (p.Arg40=) c.297G>T (p.Arg99=) n.765G>T n.481G>T c.4G>T c.60G>T (p.Arg20=) n.464G>T c.570G>T (p.Arg190=) | gnomAD v4 |
| 20 | g.63444710C= | CA2374795944 | KCNQ2 | c.639G= (p.Arg213=) n.377G= n.33G= c.120G= (p.Arg40=) c.297G= (p.Arg99=) n.765G= n.481G= c.4G= c.60G= (p.Arg20=) n.464G= c.570G= (p.Arg190=) | |
| 20 | g.63444710C>G | CA511211299 | KCNQ2 | c.639G>C (p.Arg213=) n.377G>C n.33G>C c.120G>C (p.Arg40=) c.297G>C (p.Arg99=) n.765G>C n.481G>C c.4G>C c.60G>C (p.Arg20=) n.464G>C c.570G>C (p.Arg190=) | gnomAD v4 |
| 20 | g.63444710C>T | CA511211297 | KCNQ2 | c.639G>A (p.Arg213=) n.377G>A n.33G>A c.120G>A (p.Arg40=) c.297G>A (p.Arg99=) n.765G>A n.481G>A c.4G>A c.60G>A (p.Arg20=) n.464G>A c.570G>A (p.Arg190=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444711C>A | CA409654736 | KCNQ2 | c.638G>T (p.Arg213Leu) n.376G>T n.32G>T c.119G>T (p.Arg40Leu) c.296G>T (p.Arg99Leu) n.764G>T n.480G>T c.3G>T c.59G>T (p.Arg20Leu) n.463G>T c.569G>T (p.Arg190Leu) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444711C= | CA2374795948 | KCNQ2 | c.638G= (p.Arg213=) n.376G= n.32G= c.119G= (p.Arg40=) c.296G= (p.Arg99=) n.764G= n.480G= c.3G= c.59G= (p.Arg20=) n.463G= c.569G= (p.Arg190=) | |
| 20 | g.63444711C>G | CA409654737 | KCNQ2 | c.638G>C (p.Arg213Pro) n.376G>C n.32G>C c.119G>C (p.Arg40Pro) c.296G>C (p.Arg99Pro) n.764G>C n.480G>C c.3G>C c.59G>C (p.Arg20Pro) n.463G>C c.569G>C (p.Arg190Pro) | |
| 20 | g.63444711C>T | CA130528 | KCNQ2 | c.638G>A (p.Arg213Gln) n.376G>A n.32G>A c.119G>A (p.Arg40Gln) c.296G>A (p.Arg99Gln) n.764G>A n.480G>A c.3G>A c.59G>A (p.Arg20Gln) n.463G>A c.569G>A (p.Arg190Gln) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444712G>A | CA202848 | KCNQ2 | c.637C>T (p.Arg213Trp) n.375C>T n.31C>T c.118C>T (p.Arg40Trp) c.295C>T (p.Arg99Trp) n.763C>T n.479C>T c.2C>T c.58C>T (p.Arg20Trp) n.462C>T c.568C>T (p.Arg190Trp) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444712G>C | CA409654738 | KCNQ2 | c.637C>G (p.Arg213Gly) n.375C>G n.31C>G c.118C>G (p.Arg40Gly) c.295C>G (p.Arg99Gly) n.763C>G n.479C>G c.2C>G c.58C>G (p.Arg20Gly) n.462C>G c.568C>G (p.Arg190Gly) | |
| 20 | g.63444712G= | CA2374795951 | KCNQ2 | c.637C= (p.Arg213=) n.375C= n.31C= c.118C= (p.Arg40=) c.295C= (p.Arg99=) n.763C= n.479C= c.2C= c.58C= (p.Arg20=) n.462C= c.568C= (p.Arg190=) | |
| 20 | g.63444712G>T | CA511211303 | KCNQ2 | c.637C>A (p.Arg213=) n.375C>A n.31C>A c.118C>A (p.Arg40=) c.295C>A (p.Arg99=) n.763C>A n.479C>A c.2C>A c.58C>A (p.Arg20=) n.462C>A c.568C>A (p.Arg190=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444713G>A | CA511211305 | KCNQ2 | c.636C>T (p.Asp212=) n.374C>T n.30C>T c.117C>T (p.Asp39=) c.294C>T (p.Asp98=) n.762C>T n.478C>T c.1C>T c.57C>T (p.Asp19=) n.461C>T c.567C>T (p.Asp189=) | gnomAD v4 |
| 20 | g.63444713G>C | CA409654739 | KCNQ2 | c.636C>G (p.Asp212Glu) n.374C>G n.30C>G c.117C>G (p.Asp39Glu) c.294C>G (p.Asp98Glu) n.762C>G n.478C>G c.1C>G c.57C>G (p.Asp19Glu) n.461C>G c.567C>G (p.Asp189Glu) | |
| 20 | g.63444713G= | CA2374795957 | KCNQ2 | c.636C= (p.Asp212=) n.374C= n.30C= c.117C= (p.Asp39=) c.294C= (p.Asp98=) n.762C= n.478C= c.1C= c.57C= (p.Asp19=) n.461C= c.567C= (p.Asp189=) | |
| 20 | g.63444713G>T | CA315372 | KCNQ2 | c.636C>A (p.Asp212Glu) n.374C>A n.30C>A c.117C>A (p.Asp39Glu) c.294C>A (p.Asp98Glu) n.762C>A n.478C>A c.1C>A c.57C>A (p.Asp19Glu) n.461C>A c.567C>A (p.Asp189Glu) | ClinVar dbSNP |
| 20 | g.63444714T>A | CA16620975 | KCNQ2 | c.635A>T (p.Asp212Val) n.373A>T n.29A>T c.116A>T (p.Asp39Val) c.293A>T (p.Asp98Val) n.761A>T n.477A>T c.56A>T (p.Asp19Val) n.460A>T c.566A>T (p.Asp189Val) | ClinVar dbSNP |
| 20 | g.63444714T>C | CA342517 | KCNQ2 | c.635A>G (p.Asp212Gly) n.373A>G n.29A>G c.116A>G (p.Asp39Gly) c.293A>G (p.Asp98Gly) n.761A>G n.477A>G c.56A>G (p.Asp19Gly) n.460A>G c.566A>G (p.Asp189Gly) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444714T>G | CA409654740 | KCNQ2 | c.635A>C (p.Asp212Ala) n.373A>C n.29A>C c.116A>C (p.Asp39Ala) c.293A>C (p.Asp98Ala) n.761A>C n.477A>C c.56A>C (p.Asp19Ala) n.460A>C c.566A>C (p.Asp189Ala) | ClinVar dbSNP |
| 20 | g.63444714T= | CA2374795962 | KCNQ2 | c.635A= (p.Asp212=) n.373A= n.29A= c.116A= (p.Asp39=) c.293A= (p.Asp98=) n.761A= n.477A= c.56A= (p.Asp19=) n.460A= c.566A= (p.Asp189=) | |
| 20 | g.63444715C>A | CA409654743 | KCNQ2 | c.634G>T (p.Asp212Tyr) n.372G>T n.28G>T c.115G>T (p.Asp39Tyr) c.292G>T (p.Asp98Tyr) n.760G>T n.476G>T c.55G>T (p.Asp19Tyr) n.459G>T c.565G>T (p.Asp189Tyr) | gnomAD v4 |
| 20 | g.63444715C>G | CA409654742 | KCNQ2 | c.634G>C (p.Asp212His) n.372G>C n.28G>C c.115G>C (p.Asp39His) c.292G>C (p.Asp98His) n.760G>C n.476G>C c.55G>C (p.Asp19His) n.459G>C c.565G>C (p.Asp189His) | |
| 20 | g.63444715C>T | CA409654741 | KCNQ2 | c.634G>A (p.Asp212Asn) n.372G>A n.28G>A c.115G>A (p.Asp39Asn) c.292G>A (p.Asp98Asn) n.760G>A n.476G>A c.55G>A (p.Asp19Asn) n.459G>A c.565G>A (p.Asp189Asn) | ClinVar |
| 20 | g.63444716dup | CA2580098390 | KCNQ2 | c.634dup (p.Asp212GlyfsTer?) n.372dup n.28dup c.115dup (p.Asp39GlyfsTer?) c.292dup (p.Asp98GlyfsTer?) n.760dup n.476dup c.55dup (p.Asp19GlyfsTer?) n.459dup c.565dup (p.Asp189GlyfsTer?) | ClinVar |
| 20 | g.63444716C>A | CA409654744 | KCNQ2 | c.633G>T (p.Met211Ile) n.371G>T n.27G>T c.114G>T (p.Met38Ile) c.291G>T (p.Met97Ile) n.759G>T n.475G>T c.54G>T (p.Met18Ile) n.458G>T c.564G>T (p.Met188Ile) | gnomAD v4 |
| 20 | g.63444716C>G | CA409654745 | KCNQ2 | c.633G>C (p.Met211Ile) n.371G>C n.27G>C c.114G>C (p.Met38Ile) c.291G>C (p.Met97Ile) n.759G>C n.475G>C c.54G>C (p.Met18Ile) n.458G>C c.564G>C (p.Met188Ile) | |
| 20 | g.63444716C>T | CA409654746 | KCNQ2 | c.633G>A (p.Met211Ile) n.371G>A n.27G>A c.114G>A (p.Met38Ile) c.291G>A (p.Met97Ile) n.759G>A n.475G>A c.54G>A (p.Met18Ile) n.458G>A c.564G>A (p.Met188Ile) | gnomAD v4 |
| 20 | g.63444717A>C | CA409654747 | KCNQ2 | c.632T>G (p.Met211Arg) n.370T>G n.26T>G c.113T>G (p.Met38Arg) c.290T>G (p.Met97Arg) n.758T>G n.474T>G c.53T>G (p.Met18Arg) n.457T>G c.563T>G (p.Met188Arg) | |
| 20 | g.63444717A>G | CA409654748 | KCNQ2 | c.632T>C (p.Met211Thr) n.370T>C n.26T>C c.113T>C (p.Met38Thr) c.290T>C (p.Met97Thr) n.758T>C n.474T>C c.53T>C (p.Met18Thr) n.457T>C c.563T>C (p.Met188Thr) | |
| 20 | g.63444717A>T | CA409654749 | KCNQ2 | c.632T>A (p.Met211Lys) n.370T>A n.26T>A c.113T>A (p.Met38Lys) c.290T>A (p.Met97Lys) n.758T>A n.474T>A c.53T>A (p.Met18Lys) n.457T>A c.563T>A (p.Met188Lys) | |
| 20 | g.63444718T>A | CA409654751 | KCNQ2 | c.631A>T (p.Met211Leu) n.369A>T n.25A>T c.112A>T (p.Met38Leu) c.289A>T (p.Met97Leu) n.757A>T n.473A>T c.52A>T (p.Met18Leu) n.456A>T c.562A>T (p.Met188Leu) | |
| 20 | g.63444718T>C | CA16608425 | KCNQ2 | c.631A>G (p.Met211Val) n.369A>G n.25A>G c.112A>G (p.Met38Val) c.289A>G (p.Met97Val) n.757A>G n.473A>G c.52A>G (p.Met18Val) n.456A>G c.562A>G (p.Met188Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444718T>G | CA409654750 | KCNQ2 | c.631A>C (p.Met211Leu) n.369A>C n.25A>C c.112A>C (p.Met38Leu) c.289A>C (p.Met97Leu) n.757A>C n.473A>C c.52A>C (p.Met18Leu) n.456A>C c.562A>C (p.Met188Leu) |