Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63439673dup | CA658799387 | KCNQ2 | c.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 |
20 | g.63439673del | CA2573157304 | KCNQ2 | c.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 |
20 | g.63439671G>A | CA409652651 | KCNQ2 | c.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 |
20 | g.63439671G>C | CA409652653 | KCNQ2 | c.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) | |
20 | g.63439671G= | CA2374791964 | KCNQ2 | c.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=) | |
20 | g.63439671G>T | CA10654813 | KCNQ2 | c.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 |
20 | g.63439672G>A | CA409652655 | KCNQ2 | c.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 |
20 | g.63439672G>C | CA409652656 | KCNQ2 | c.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) | |
20 | g.63439672G= | CA2374791965 | KCNQ2 | c.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=) | |
20 | g.63439672G>T | CA409652658 | KCNQ2 | c.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) | |
20 | g.63439673G>A | CA409652659 | KCNQ2 | c.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 |
20 | g.63439673G>C | CA409652660 | KCNQ2 | c.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) | |
20 | g.63439673G= | CA2374791966 | KCNQ2 | c.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=) | |
20 | g.63439673G>T | CA409652661 | KCNQ2 | c.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) | |
20 | g.63439674T>A | CA409652662 | KCNQ2 | c.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) | |
20 | g.63439674T>C | CA340673 | KCNQ2 | c.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 |
20 | g.63439674T>G | CA409652663 | KCNQ2 | c.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) | |
20 | g.63439674T= | CA2374791967 | KCNQ2 | c.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=) | |
20 | g.63439675A= | CA2374791968 | KCNQ2 | c.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=) | |
20 | g.63439675A>C | CA347949 | KCNQ2 | c.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 |
20 | g.63439675A>G | CA409652665 | KCNQ2 | c.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 |
20 | g.63439675A>T | CA409652666 | KCNQ2 | c.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) | |
20 | g.63439675_63439676dup | CA2695230046 | KCNQ2 | c.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?) | |
20 | g.63439676C>A | CA409652669 | KCNQ2 | c.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 |
20 | g.63439676C= | CA2374791969 | KCNQ2 | c.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=) | |
20 | g.63439676C>G | CA409652668 | KCNQ2 | c.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) | |
20 | g.63439676C>T | CA317456394 | KCNQ2 | c.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 |
20 | g.63439676_63439677delinsCT | CA2374791970 | KCNQ2 | c.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=) | |
20 | g.63439677T>A | CA409652671 | KCNQ2 | c.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) | |
20 | g.63439677T>C | CA315406 | KCNQ2 | c.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 |
20 | g.63439677T>G | CA409652672 | KCNQ2 | c.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) | |
20 | g.63439677T= | CA2374791971 | KCNQ2 | c.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=) | |
20 | g.63439678del | CA658799388 | KCNQ2 | c.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 |
20 | g.63439677_63439678insAC | CA342536 | KCNQ2 | c.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 |
20 | g.63439678T>A | CA409652674 | KCNQ2 | c.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) | |
20 | g.63439678T>C | CA409652675 | KCNQ2 | c.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 |
20 | g.63439678T>G | CA409652676 | KCNQ2 | c.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) | |
20 | g.63439678T= | CA2374791972 | KCNQ2 | c.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=) | |
20 | g.63439679G>A | CA409652677 | KCNQ2 | c.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 |
20 | g.63439679G>C | CA409652678 | KCNQ2 | c.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) | |
20 | g.63439679G>T | CA409652679 | KCNQ2 | c.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) | |
20 | g.63439679_63439680delinsGT | CA2374791973 | KCNQ2 | c.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=) | |
20 | g.63439680del | CA891843763 | KCNQ2 | c.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 |
20 | g.63439680T>A | CA409652680 | KCNQ2 | c.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 |
20 | g.63439680T>C | CA409652682 | KCNQ2 | c.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) | |
20 | g.63439680T>G | CA409652683 | KCNQ2 | c.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) | |
20 | g.63439680T= | CA2374791974 | KCNQ2 | c.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=) | |
20 | g.63439681C>A | CA409652686 | KCNQ2 | c.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) | |
20 | g.63439681C= | CA2374791975 | KCNQ2 | c.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=) | |
20 | g.63439681C>G | CA409652684 | KCNQ2 | c.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 |