| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444698_63444700delinsGGT | CA2374795884 | KCNQ2 | c.649_651delinsACC (p.Thr217=) n.387_389delinsACC n.43_45delinsACC c.130_132delinsACC (p.Thr44=) c.307_309delinsACC (p.Thr103=) n.775_777delinsACC n.491_493delinsACC c.14_16delinsACC c.70_72delinsACC (p.Thr24=) n.474_476delinsACC c.580_582delinsACC (p.Thr194=) | |
| 20 | g.63444699G>A | CA409654718 | KCNQ2 | c.650C>T (p.Thr217Ile) n.388C>T n.44C>T c.131C>T (p.Thr44Ile) c.308C>T (p.Thr103Ile) n.776C>T n.492C>T c.15C>T c.71C>T (p.Thr24Ile) n.475C>T c.581C>T (p.Thr194Ile) | ClinVar |
| 20 | g.63444699G>C | CA409654719 | KCNQ2 | c.650C>G (p.Thr217Ser) n.388C>G n.44C>G c.131C>G (p.Thr44Ser) c.308C>G (p.Thr103Ser) n.776C>G n.492C>G c.15C>G c.71C>G (p.Thr24Ser) n.475C>G c.581C>G (p.Thr194Ser) | |
| 20 | g.63444699G= | CA2374795894 | KCNQ2 | c.650C= (p.Thr217=) n.388C= n.44C= c.131C= (p.Thr44=) c.308C= (p.Thr103=) n.776C= n.492C= c.15C= c.71C= (p.Thr24=) n.475C= c.581C= (p.Thr194=) | |
| 20 | g.63444699G>T | CA10654821 | KCNQ2 | c.650C>A (p.Thr217Asn) n.388C>A n.44C>A c.131C>A (p.Thr44Asn) c.308C>A (p.Thr103Asn) n.776C>A n.492C>A c.15C>A c.71C>A (p.Thr24Asn) n.475C>A c.581C>A (p.Thr194Asn) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444700_63444701del | CA1139666801 | KCNQ2 | c.649_650del (p.Thr217LeufsTer?) n.387_388del n.43_44del c.130_131del (p.Thr44LeufsTer?) c.307_308del (p.Thr103LeufsTer?) n.775_776del n.491_492del c.14_15del c.70_71del (p.Thr24LeufsTer?) n.474_475del c.580_581del (p.Thr194LeufsTer?) | ClinVar dbSNP |
| 20 | g.63444700T>A | CA409654720 | KCNQ2 | c.649A>T (p.Thr217Ser) n.387A>T n.43A>T c.130A>T (p.Thr44Ser) c.307A>T (p.Thr103Ser) n.775A>T n.491A>T c.14A>T c.70A>T (p.Thr24Ser) n.474A>T c.580A>T (p.Thr194Ser) | |
| 20 | g.63444700T>C | CA10654822 | KCNQ2 | c.649A>G (p.Thr217Ala) n.387A>G n.43A>G c.130A>G (p.Thr44Ala) c.307A>G (p.Thr103Ala) n.775A>G n.491A>G c.14A>G c.70A>G (p.Thr24Ala) n.474A>G c.580A>G (p.Thr194Ala) | ClinVar dbSNP |
| 20 | g.63444700T>G | CA409654721 | KCNQ2 | c.649A>C (p.Thr217Pro) n.387A>C n.43A>C c.130A>C (p.Thr44Pro) c.307A>C (p.Thr103Pro) n.775A>C n.491A>C c.14A>C c.70A>C (p.Thr24Pro) n.474A>C c.580A>C (p.Thr194Pro) | ClinVar dbSNP |
| 20 | g.63444700T= | CA2374795903 | KCNQ2 | c.649A= (p.Thr217=) n.387A= n.43A= c.130A= (p.Thr44=) c.307A= (p.Thr103=) n.775A= n.491A= c.14A= c.70A= (p.Thr24=) n.474A= c.580A= (p.Thr194=) | |
| 20 | g.63444701G>A | CA511211261 | KCNQ2 | c.648C>T (p.Gly216=) n.386C>T n.42C>T c.129C>T (p.Gly43=) c.306C>T (p.Gly102=) n.774C>T n.490C>T c.13C>T c.69C>T (p.Gly23=) n.473C>T c.579C>T (p.Gly193=) | gnomAD v4 |
| 20 | g.63444701G>C | CA511211263 | KCNQ2 | c.648C>G (p.Gly216=) n.386C>G n.42C>G c.129C>G (p.Gly43=) c.306C>G (p.Gly102=) n.774C>G n.490C>G c.13C>G c.69C>G (p.Gly23=) n.473C>G c.579C>G (p.Gly193=) | dbSNP |
| 20 | g.63444701G>T | CA511211265 | KCNQ2 | c.648C>A (p.Gly216=) n.386C>A n.42C>A c.129C>A (p.Gly43=) c.306C>A (p.Gly102=) n.774C>A n.490C>A c.13C>A c.69C>A (p.Gly23=) n.473C>A c.579C>A (p.Gly193=) | dbSNP |
| 20 | g.63444702C>A | CA409654722 | KCNQ2 | c.647G>T (p.Gly216Val) n.385G>T n.41G>T c.128G>T (p.Gly43Val) c.305G>T (p.Gly102Val) n.773G>T n.489G>T c.12G>T c.68G>T (p.Gly23Val) n.472G>T c.578G>T (p.Gly193Val) | ClinVar gnomAD v4 |
| 20 | g.63444702C>G | CA409654723 | KCNQ2 | c.647G>C (p.Gly216Ala) n.385G>C n.41G>C c.128G>C (p.Gly43Ala) c.305G>C (p.Gly102Ala) n.773G>C n.489G>C c.12G>C c.68G>C (p.Gly23Ala) n.472G>C c.578G>C (p.Gly193Ala) | |
| 20 | g.63444702C>T | CA409654724 | KCNQ2 | c.647G>A (p.Gly216Asp) n.385G>A n.41G>A c.128G>A (p.Gly43Asp) c.305G>A (p.Gly102Asp) n.773G>A n.489G>A c.12G>A c.68G>A (p.Gly23Asp) n.472G>A c.578G>A (p.Gly193Asp) | gnomAD v4 |
| 20 | g.63444703C>A | CA409654725 | KCNQ2 | c.646G>T (p.Gly216Cys) n.384G>T n.40G>T c.127G>T (p.Gly43Cys) c.304G>T (p.Gly102Cys) n.772G>T n.488G>T c.11G>T c.67G>T (p.Gly23Cys) n.471G>T c.577G>T (p.Gly193Cys) | gnomAD v4 |
| 20 | g.63444703C>G | CA409654727 | KCNQ2 | c.646G>C (p.Gly216Arg) n.384G>C n.40G>C c.127G>C (p.Gly43Arg) c.304G>C (p.Gly102Arg) n.772G>C n.488G>C c.11G>C c.67G>C (p.Gly23Arg) n.471G>C c.577G>C (p.Gly193Arg) | |
| 20 | g.63444703C>T | CA409654726 | KCNQ2 | c.646G>A (p.Gly216Ser) n.384G>A n.40G>A c.127G>A (p.Gly43Ser) c.304G>A (p.Gly102Ser) n.772G>A n.488G>A c.11G>A c.67G>A (p.Gly23Ser) n.471G>A c.577G>A (p.Gly193Ser) | |
| 20 | g.63444704T>A | CA511211273 | KCNQ2 | c.645A>T (p.Gly215=) n.383A>T n.39A>T c.126A>T (p.Gly42=) c.303A>T (p.Gly101=) n.771A>T n.487A>T c.10A>T c.66A>T (p.Gly22=) n.470A>T c.576A>T (p.Gly192=) | dbSNP |
| 20 | g.63444704T>C | CA317461796 | KCNQ2 | c.645A>G (p.Gly215=) n.383A>G n.39A>G c.126A>G (p.Gly42=) c.303A>G (p.Gly101=) n.771A>G n.487A>G c.10A>G c.66A>G (p.Gly22=) n.470A>G c.576A>G (p.Gly192=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63444704T>G | CA511211276 | KCNQ2 | c.645A>C (p.Gly215=) n.383A>C n.39A>C c.126A>C (p.Gly42=) c.303A>C (p.Gly101=) n.771A>C n.487A>C c.10A>C c.66A>C (p.Gly22=) n.470A>C c.576A>C (p.Gly192=) | |
| 20 | g.63444704T= | CA2374795910 | KCNQ2 | c.645A= (p.Gly215=) n.383A= n.39A= c.126A= (p.Gly42=) c.303A= (p.Gly101=) n.771A= n.487A= c.10A= c.66A= (p.Gly22=) n.470A= c.576A= (p.Gly192=) | |
| 20 | g.63444705C>A | CA409654728 | KCNQ2 | c.644G>T (p.Gly215Val) n.382G>T n.38G>T c.125G>T (p.Gly42Val) c.302G>T (p.Gly101Val) n.770G>T n.486G>T c.9G>T c.65G>T (p.Gly22Val) n.469G>T c.575G>T (p.Gly192Val) | |
| 20 | g.63444705C>G | CA409654730 | KCNQ2 | c.644G>C (p.Gly215Ala) n.382G>C n.38G>C c.125G>C (p.Gly42Ala) c.302G>C (p.Gly101Ala) n.770G>C n.486G>C c.9G>C c.65G>C (p.Gly22Ala) n.469G>C c.575G>C (p.Gly192Ala) | |
| 20 | g.63444705C>T | CA409654729 | KCNQ2 | c.644G>A (p.Gly215Glu) n.382G>A n.38G>A c.125G>A (p.Gly42Glu) c.302G>A (p.Gly101Glu) n.770G>A n.486G>A c.9G>A c.65G>A (p.Gly22Glu) n.469G>A c.575G>A (p.Gly192Glu) | |
| 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) |