Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63439673dupCA658799387KCNQ2c.856dup (p.Gln286ProfsTer?)
n.594dup
c.337dup (p.Gln113ProfsTer?)
c.514dup (p.Gln172ProfsTer?)
n.982dup
c.221dup
c.359dup (p.Asp121ArgfsTer?)
n.681dup
c.730dup (p.Gln244ProfsTer?)
c.787dup (p.Gln263ProfsTer?)
ClinVar dbSNP
20g.63439673delCA2573157304KCNQ2c.856del (p.Gln286ArgfsTer?)
n.594del
c.337del (p.Gln113ArgfsTer?)
c.514del (p.Gln172ArgfsTer?)
n.982del
c.221del
c.359del (p.Pro120GlnfsTer?)
n.681del
c.730del (p.Gln244ArgfsTer?)
c.787del (p.Gln263ArgfsTer?)
ClinVar dbSNP
20g.63439671G>ACA409652651KCNQ2c.854C>T (p.Pro285Leu)
n.592C>T
c.335C>T (p.Pro112Leu)
c.512C>T (p.Pro171Leu)
n.980C>T
c.219C>T
c.357C>T (p.Pro119=)
n.679C>T
c.728C>T (p.Pro243Leu)
c.785C>T (p.Pro262Leu)
ClinVar dbSNP
20g.63439671G>CCA409652653KCNQ2c.854C>G (p.Pro285Arg)
n.592C>G
c.335C>G (p.Pro112Arg)
c.512C>G (p.Pro171Arg)
n.980C>G
c.219C>G
c.357C>G (p.Pro119=)
n.679C>G
c.728C>G (p.Pro243Arg)
c.785C>G (p.Pro262Arg)
20g.63439671G=CA2374791964KCNQ2c.854C= (p.Pro285=)
n.592C=
c.335C= (p.Pro112=)
c.512C= (p.Pro171=)
n.980C=
c.219C=
c.357C= (p.Pro119=)
n.679C=
c.728C= (p.Pro243=)
c.785C= (p.Pro262=)
20g.63439671G>TCA10654813KCNQ2c.854C>A (p.Pro285His)
n.592C>A
c.335C>A (p.Pro112His)
c.512C>A (p.Pro171His)
n.980C>A
c.219C>A
c.357C>A (p.Pro119=)
n.679C>A
c.728C>A (p.Pro243His)
c.785C>A (p.Pro262His)
ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439672G>ACA409652655KCNQ2c.853C>T (p.Pro285Ser)
n.591C>T
c.334C>T (p.Pro112Ser)
c.511C>T (p.Pro171Ser)
n.979C>T
c.218C>T
c.356C>T (p.Pro119Leu)
n.678C>T
c.727C>T (p.Pro243Ser)
c.784C>T (p.Pro262Ser)
ClinVar dbSNP
20g.63439672G>CCA409652656KCNQ2c.853C>G (p.Pro285Ala)
n.591C>G
c.334C>G (p.Pro112Ala)
c.511C>G (p.Pro171Ala)
n.979C>G
c.218C>G
c.356C>G (p.Pro119Arg)
n.678C>G
c.727C>G (p.Pro243Ala)
c.784C>G (p.Pro262Ala)
20g.63439672G=CA2374791965KCNQ2c.853C= (p.Pro285=)
n.591C=
c.334C= (p.Pro112=)
c.511C= (p.Pro171=)
n.979C=
c.218C=
c.356C= (p.Pro119=)
n.678C=
c.727C= (p.Pro243=)
c.784C= (p.Pro262=)
20g.63439672G>TCA409652658KCNQ2c.853C>A (p.Pro285Thr)
n.591C>A
c.334C>A (p.Pro112Thr)
c.511C>A (p.Pro171Thr)
n.979C>A
c.218C>A
c.356C>A (p.Pro119His)
n.678C>A
c.727C>A (p.Pro243Thr)
c.784C>A (p.Pro262Thr)
20g.63439673G>ACA409652659KCNQ2c.852C>T (p.Tyr284=)
n.590C>T
c.333C>T (p.Tyr111=)
c.510C>T (p.Tyr170=)
n.978C>T
c.217C>T
c.355C>T (p.Pro119Ser)
n.677C>T
c.726C>T (p.Tyr242=)
c.783C>T (p.Tyr261=)
dbSNP gnomAD v3 gnomAD v4
20g.63439673G>CCA409652660KCNQ2c.852C>G (p.Tyr284Ter)
n.590C>G
c.333C>G (p.Tyr111Ter)
c.510C>G (p.Tyr170Ter)
n.978C>G
c.217C>G
c.355C>G (p.Pro119Ala)
n.677C>G
c.726C>G (p.Tyr242Ter)
c.783C>G (p.Tyr261Ter)
20g.63439673G=CA2374791966KCNQ2c.852C= (p.Tyr284=)
n.590C=
c.333C= (p.Tyr111=)
c.510C= (p.Tyr170=)
n.978C=
c.217C=
c.355C= (p.Pro119=)
n.677C=
c.726C= (p.Tyr242=)
c.783C= (p.Tyr261=)
20g.63439673G>TCA409652661KCNQ2c.852C>A (p.Tyr284Ter)
n.590C>A
c.333C>A (p.Tyr111Ter)
c.510C>A (p.Tyr170Ter)
n.978C>A
c.217C>A
c.355C>A (p.Pro119Thr)
n.677C>A
c.726C>A (p.Tyr242Ter)
c.783C>A (p.Tyr261Ter)
20g.63439674T>ACA409652662KCNQ2c.851A>T (p.Tyr284Phe)
n.589A>T
c.332A>T (p.Tyr111Phe)
c.509A>T (p.Tyr170Phe)
n.977A>T
c.216A>T
c.354A>T (p.Val118=)
n.676A>T
c.725A>T (p.Tyr242Phe)
c.782A>T (p.Tyr261Phe)
20g.63439674T>CCA340673KCNQ2c.851A>G (p.Tyr284Cys)
n.589A>G
c.332A>G (p.Tyr111Cys)
c.509A>G (p.Tyr170Cys)
n.977A>G
c.216A>G
c.354A>G (p.Val118=)
n.676A>G
c.725A>G (p.Tyr242Cys)
c.782A>G (p.Tyr261Cys)
ClinVar dbSNP
20g.63439674T>GCA409652663KCNQ2c.851A>C (p.Tyr284Ser)
n.589A>C
c.332A>C (p.Tyr111Ser)
c.509A>C (p.Tyr170Ser)
n.977A>C
c.216A>C
c.354A>C (p.Val118=)
n.676A>C
c.725A>C (p.Tyr242Ser)
c.782A>C (p.Tyr261Ser)
20g.63439674T=CA2374791967KCNQ2c.851A= (p.Tyr284=)
n.589A=
c.332A= (p.Tyr111=)
c.509A= (p.Tyr170=)
n.977A=
c.216A=
c.354A= (p.Val118=)
n.676A=
c.725A= (p.Tyr242=)
c.782A= (p.Tyr261=)
20g.63439675A=CA2374791968KCNQ2c.850T= (p.Tyr284=)
n.588T=
c.331T= (p.Tyr111=)
c.508T= (p.Tyr170=)
n.976T=
c.215T=
c.353T= (p.Val118=)
n.675T=
c.724T= (p.Tyr242=)
c.781T= (p.Tyr261=)
20g.63439675A>CCA347949KCNQ2c.850T>G (p.Tyr284Asp)
n.588T>G
c.331T>G (p.Tyr111Asp)
c.508T>G (p.Tyr170Asp)
n.976T>G
c.215T>G
c.353T>G (p.Val118Gly)
n.675T>G
c.724T>G (p.Tyr242Asp)
c.781T>G (p.Tyr261Asp)
ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439675A>GCA409652665KCNQ2c.850T>C (p.Tyr284His)
n.588T>C
c.331T>C (p.Tyr111His)
c.508T>C (p.Tyr170His)
n.976T>C
c.215T>C
c.353T>C (p.Val118Ala)
n.675T>C
c.724T>C (p.Tyr242His)
c.781T>C (p.Tyr261His)
ClinVar
20g.63439675A>TCA409652666KCNQ2c.850T>A (p.Tyr284Asn)
n.588T>A
c.331T>A (p.Tyr111Asn)
c.508T>A (p.Tyr170Asn)
n.976T>A
c.215T>A
c.353T>A (p.Val118Glu)
n.675T>A
c.724T>A (p.Tyr242Asn)
c.781T>A (p.Tyr261Asn)
20g.63439675_63439676dupCA2695230046KCNQ2c.849_850dup (p.Tyr284CysfsTer?)
n.587_588dup
c.330_331dup (p.Tyr111CysfsTer?)
c.507_508dup (p.Tyr170CysfsTer?)
n.975_976dup
c.214_215dup
c.352_353dup (p.Pro119TyrfsTer?)
n.674_675dup
c.723_724dup (p.Tyr242CysfsTer?)
c.780_781dup (p.Tyr261CysfsTer?)
20g.63439676C>ACA409652669KCNQ2c.849G>T (p.Lys283Asn)
n.587G>T
c.330G>T (p.Lys110Asn)
c.507G>T (p.Lys169Asn)
n.975G>T
c.214G>T
c.352G>T (p.Val118Leu)
n.674G>T
c.723G>T (p.Lys241Asn)
c.780G>T (p.Lys260Asn)
COSMIC COSMIC COSMIC COSMIC
20g.63439676C=CA2374791969KCNQ2c.849G= (p.Lys283=)
n.587G=
c.330G= (p.Lys110=)
c.507G= (p.Lys169=)
n.975G=
c.214G=
c.352G= (p.Val118=)
n.674G=
c.723G= (p.Lys241=)
c.780G= (p.Lys260=)
20g.63439676C>GCA409652668KCNQ2c.849G>C (p.Lys283Asn)
n.587G>C
c.330G>C (p.Lys110Asn)
c.507G>C (p.Lys169Asn)
n.975G>C
c.214G>C
c.352G>C (p.Val118Leu)
n.674G>C
c.723G>C (p.Lys241Asn)
c.780G>C (p.Lys260Asn)
20g.63439676C>TCA317456394KCNQ2c.849G>A (p.Lys283=)
n.587G>A
c.330G>A (p.Lys110=)
c.507G>A (p.Lys169=)
n.975G>A
c.214G>A
c.352G>A (p.Val118Ile)
n.674G>A
c.723G>A (p.Lys241=)
c.780G>A (p.Lys260=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63439676_63439677delinsCTCA2374791970KCNQ2c.848_849delinsAG (p.Lys283=)
n.586_587delinsAG
c.329_330delinsAG (p.Lys110=)
c.506_507delinsAG (p.Lys169=)
n.974_975delinsAG
c.213_214delinsAG
c.351_352delinsAG (p.Gln117=)
n.673_674delinsAG
c.722_723delinsAG (p.Lys241=)
c.779_780delinsAG (p.Lys260=)
20g.63439677T>ACA409652671KCNQ2c.848A>T (p.Lys283Met)
n.586A>T
c.329A>T (p.Lys110Met)
c.506A>T (p.Lys169Met)
n.974A>T
c.213A>T
c.351A>T (p.Gln117His)
n.673A>T
c.722A>T (p.Lys241Met)
c.779A>T (p.Lys260Met)
20g.63439677T>CCA315406KCNQ2c.848A>G (p.Lys283Arg)
n.586A>G
c.329A>G (p.Lys110Arg)
c.506A>G (p.Lys169Arg)
n.974A>G
c.213A>G
c.351A>G (p.Gln117=)
n.673A>G
c.722A>G (p.Lys241Arg)
c.779A>G (p.Lys260Arg)
ClinVar dbSNP
20g.63439677T>GCA409652672KCNQ2c.848A>C (p.Lys283Thr)
n.586A>C
c.329A>C (p.Lys110Thr)
c.506A>C (p.Lys169Thr)
n.974A>C
c.213A>C
c.351A>C (p.Gln117His)
n.673A>C
c.722A>C (p.Lys241Thr)
c.779A>C (p.Lys260Thr)
20g.63439677T=CA2374791971KCNQ2c.848A= (p.Lys283=)
n.586A=
c.329A= (p.Lys110=)
c.506A= (p.Lys169=)
n.974A=
c.213A=
c.351A= (p.Gln117=)
n.673A=
c.722A= (p.Lys241=)
c.779A= (p.Lys260=)
20g.63439678delCA658799388KCNQ2c.848del (p.Lys283SerfsTer?)
n.586del
c.329del (p.Lys110SerfsTer?)
c.506del (p.Lys169SerfsTer?)
n.974del
c.213del
c.351del (p.Val118TyrfsTer?)
n.673del
c.722del (p.Lys241SerfsTer?)
c.779del (p.Lys260SerfsTer?)
ClinVar dbSNP
20g.63439677_63439678insACCA342536KCNQ2c.847_848insGT (p.Lys283SerfsTer?)
n.585_586insGT
c.328_329insGT (p.Lys110SerfsTer?)
c.505_506insGT (p.Lys169SerfsTer?)
n.973_974insGT
c.212_213insGT
c.350_351insGT (p.Val118Ter)
n.672_673insGT
c.721_722insGT (p.Lys241SerfsTer?)
c.778_779insGT (p.Lys260SerfsTer?)
ClinVar dbSNP
20g.63439678T>ACA409652674KCNQ2c.847A>T (p.Lys283Ter)
n.585A>T
c.328A>T (p.Lys110Ter)
c.505A>T (p.Lys169Ter)
n.973A>T
c.212A>T
c.350A>T (p.Gln117Leu)
n.672A>T
c.721A>T (p.Lys241Ter)
c.778A>T (p.Lys260Ter)
20g.63439678T>CCA409652675KCNQ2c.847A>G (p.Lys283Glu)
n.585A>G
c.328A>G (p.Lys110Glu)
c.505A>G (p.Lys169Glu)
n.973A>G
c.212A>G
c.350A>G (p.Gln117Arg)
n.672A>G
c.721A>G (p.Lys241Glu)
c.778A>G (p.Lys260Glu)
ClinVar dbSNP
20g.63439678T>GCA409652676KCNQ2c.847A>C (p.Lys283Gln)
n.585A>C
c.328A>C (p.Lys110Gln)
c.505A>C (p.Lys169Gln)
n.973A>C
c.212A>C
c.350A>C (p.Gln117Pro)
n.672A>C
c.721A>C (p.Lys241Gln)
c.778A>C (p.Lys260Gln)
20g.63439678T=CA2374791972KCNQ2c.847A= (p.Lys283=)
n.585A=
c.328A= (p.Lys110=)
c.505A= (p.Lys169=)
n.973A=
c.212A=
c.350A= (p.Gln117=)
n.672A=
c.721A= (p.Lys241=)
c.778A= (p.Lys260=)
20g.63439679G>ACA409652677KCNQ2c.846C>T (p.Asp282=)
n.584C>T
c.327C>T (p.Asp109=)
c.504C>T (p.Asp168=)
n.972C>T
c.211C>T
c.349C>T (p.Gln117Ter)
n.671C>T
c.720C>T (p.Asp240=)
c.777C>T (p.Asp259=)
gnomAD v4
20g.63439679G>CCA409652678KCNQ2c.846C>G (p.Asp282Glu)
n.584C>G
c.327C>G (p.Asp109Glu)
c.504C>G (p.Asp168Glu)
n.972C>G
c.211C>G
c.349C>G (p.Gln117Glu)
n.671C>G
c.720C>G (p.Asp240Glu)
c.777C>G (p.Asp259Glu)
20g.63439679G>TCA409652679KCNQ2c.846C>A (p.Asp282Glu)
n.584C>A
c.327C>A (p.Asp109Glu)
c.504C>A (p.Asp168Glu)
n.972C>A
c.211C>A
c.349C>A (p.Gln117Lys)
n.671C>A
c.720C>A (p.Asp240Glu)
c.777C>A (p.Asp259Glu)
20g.63439679_63439680delinsGTCA2374791973KCNQ2c.845_846delinsAC (p.Asp282=)
n.583_584delinsAC
c.326_327delinsAC (p.Asp109=)
c.503_504delinsAC (p.Asp168=)
n.971_972delinsAC
c.210_211delinsAC
c.348_349delinsAC (p.Gly116=)
n.670_671delinsAC
c.719_720delinsAC (p.Asp240=)
c.776_777delinsAC (p.Asp259=)
20g.63439680delCA891843763KCNQ2c.845del (p.Asp282AlafsTer?)
n.583del
c.326del (p.Asp109AlafsTer?)
c.503del (p.Asp168AlafsTer?)
n.971del
c.210del
c.348del (p.Gln117LysfsTer?)
n.670del
c.719del (p.Asp240AlafsTer?)
c.776del (p.Asp259AlafsTer?)
ClinVar dbSNP
20g.63439680T>ACA409652680KCNQ2c.845A>T (p.Asp282Val)
n.583A>T
c.326A>T (p.Asp109Val)
c.503A>T (p.Asp168Val)
n.971A>T
c.210A>T
c.348A>T (p.Gly116=)
n.670A>T
c.719A>T (p.Asp240Val)
c.776A>T (p.Asp259Val)
ClinVar dbSNP
20g.63439680T>CCA409652682KCNQ2c.845A>G (p.Asp282Gly)
n.583A>G
c.326A>G (p.Asp109Gly)
c.503A>G (p.Asp168Gly)
n.971A>G
c.210A>G
c.348A>G (p.Gly116=)
n.670A>G
c.719A>G (p.Asp240Gly)
c.776A>G (p.Asp259Gly)
20g.63439680T>GCA409652683KCNQ2c.845A>C (p.Asp282Ala)
n.583A>C
c.326A>C (p.Asp109Ala)
c.503A>C (p.Asp168Ala)
n.971A>C
c.210A>C
c.348A>C (p.Gly116=)
n.670A>C
c.719A>C (p.Asp240Ala)
c.776A>C (p.Asp259Ala)
20g.63439680T=CA2374791974KCNQ2c.845A= (p.Asp282=)
n.583A=
c.326A= (p.Asp109=)
c.503A= (p.Asp168=)
n.971A=
c.210A=
c.348A= (p.Gly116=)
n.670A=
c.719A= (p.Asp240=)
c.776A= (p.Asp259=)
20g.63439681C>ACA409652686KCNQ2c.844G>T (p.Asp282Tyr)
n.582G>T
c.325G>T (p.Asp109Tyr)
c.502G>T (p.Asp168Tyr)
n.970G>T
c.209G>T
c.347G>T (p.Gly116Val)
n.669G>T
c.718G>T (p.Asp240Tyr)
c.775G>T (p.Asp259Tyr)
20g.63439681C=CA2374791975KCNQ2c.844G= (p.Asp282=)
n.582G=
c.325G= (p.Asp109=)
c.502G= (p.Asp168=)
n.970G=
c.209G=
c.347G= (p.Gly116=)
n.669G=
c.718G= (p.Asp240=)
c.775G= (p.Asp259=)
20g.63439681C>GCA409652684KCNQ2c.844G>C (p.Asp282His)
n.582G>C
c.325G>C (p.Asp109His)
c.502G>C (p.Asp168His)
n.970G>C
c.209G>C
c.347G>C (p.Gly116Ala)
n.669G>C
c.718G>C (p.Asp240His)
c.775G>C (p.Asp259His)
ClinVar dbSNP

Number of alleles fetched