Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.132174224_132174225del | CA2579251672 | KCNQ3 | c.1044+18_1044+19del (n.1044+18_1044+19del) c.684+18_684+19del (n.684+18_684+19del) c.717+18_717+19del (n.717+18_717+19del) c.694+18_694+19del n.822+18_822+19del c.681+18_681+19del (n.681+18_681+19del) c.-113+18_-113+19del (n.-113+18_-113+19del) c.336+18_336+19del (n.336+18_336+19del) c.822+18_822+19del (n.822+18_822+19del) | |
8 | g.132174225T>A | CA2688627202 | KCNQ3 | c.1044+14A>T (n.1044+14A>T) c.684+14A>T (n.684+14A>T) c.717+14A>T (n.717+14A>T) c.694+14A>T n.822+14A>T c.681+14A>T (n.681+14A>T) c.-113+14A>T (n.-113+14A>T) c.336+14A>T (n.336+14A>T) c.822+14A>T (n.822+14A>T) | gnomAD v4 |
8 | g.132174226C>A | CA2688627203 | KCNQ3 | c.1044+13G>T (n.1044+13G>T) c.684+13G>T (n.684+13G>T) c.717+13G>T (n.717+13G>T) c.694+13G>T n.822+13G>T c.681+13G>T (n.681+13G>T) c.-113+13G>T (n.-113+13G>T) c.336+13G>T (n.336+13G>T) c.822+13G>T (n.822+13G>T) | gnomAD v4 |
8 | g.132174227A>G | CA2697550167 | KCNQ3 | c.1044+12T>C (n.1044+12T>C) c.684+12T>C (n.684+12T>C) c.717+12T>C (n.717+12T>C) c.694+12T>C n.822+12T>C c.681+12T>C (n.681+12T>C) c.-113+12T>C (n.-113+12T>C) c.336+12T>C (n.336+12T>C) c.822+12T>C (n.822+12T>C) | ClinVar |
8 | g.132174230G>A | CA2579251675 | KCNQ3 | c.1044+9C>T (n.1044+9C>T) c.684+9C>T (n.684+9C>T) c.717+9C>T (n.717+9C>T) c.694+9C>T n.822+9C>T c.681+9C>T (n.681+9C>T) c.-113+9C>T (n.-113+9C>T) c.336+9C>T (n.336+9C>T) c.822+9C>T (n.822+9C>T) | ClinVar |
8 | g.132174230G>T | CA2688627204 | KCNQ3 | c.1044+9C>A (n.1044+9C>A) c.684+9C>A (n.684+9C>A) c.717+9C>A (n.717+9C>A) c.694+9C>A n.822+9C>A c.681+9C>A (n.681+9C>A) c.-113+9C>A (n.-113+9C>A) c.336+9C>A (n.336+9C>A) c.822+9C>A (n.822+9C>A) | gnomAD v4 |
8 | g.132174231G>A | CA847633821 | KCNQ3 | c.1044+8C>T (n.1044+8C>T) c.684+8C>T (n.684+8C>T) c.717+8C>T (n.717+8C>T) c.694+8C>T n.822+8C>T c.681+8C>T (n.681+8C>T) c.-113+8C>T (n.-113+8C>T) c.336+8C>T (n.336+8C>T) c.822+8C>T (n.822+8C>T) | dbSNP gnomAD v4 |
8 | g.132174231G= | CA1820664004 | KCNQ3 | c.1044+8C= (n.1044+8C=) c.684+8C= (n.684+8C=) c.717+8C= (n.717+8C=) c.694+8C= n.822+8C= c.681+8C= (n.681+8C=) c.-113+8C= (n.-113+8C=) c.336+8C= (n.336+8C=) c.822+8C= (n.822+8C=) | |
8 | g.132174231G>T | CA2579251676 | KCNQ3 | c.1044+8C>A (n.1044+8C>A) c.684+8C>A (n.684+8C>A) c.717+8C>A (n.717+8C>A) c.694+8C>A n.822+8C>A c.681+8C>A (n.681+8C>A) c.-113+8C>A (n.-113+8C>A) c.336+8C>A (n.336+8C>A) c.822+8C>A (n.822+8C>A) | gnomAD v4 |
8 | g.132174232T>C | CA585236096 | KCNQ3 | c.1044+7A>G (n.1044+7A>G) c.684+7A>G (n.684+7A>G) c.717+7A>G (n.717+7A>G) c.694+7A>G n.822+7A>G c.681+7A>G (n.681+7A>G) c.-113+7A>G (n.-113+7A>G) c.336+7A>G (n.336+7A>G) c.822+7A>G (n.822+7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132174232T>G | CA1820664006 | KCNQ3 | c.1044+7A>C (n.1044+7A>C) c.684+7A>C (n.684+7A>C) c.717+7A>C (n.717+7A>C) c.694+7A>C n.822+7A>C c.681+7A>C (n.681+7A>C) c.-113+7A>C (n.-113+7A>C) c.336+7A>C (n.336+7A>C) c.822+7A>C (n.822+7A>C) | dbSNP |
8 | g.132174232T= | CA1820664005 | KCNQ3 | c.1044+7A= (n.1044+7A=) c.684+7A= (n.684+7A=) c.717+7A= (n.717+7A=) c.694+7A= n.822+7A= c.681+7A= (n.681+7A=) c.-113+7A= (n.-113+7A=) c.336+7A= (n.336+7A=) c.822+7A= (n.822+7A=) | |
8 | g.132174233A= | CA1820664007 | KCNQ3 | c.1044+6T= (n.1044+6T=) c.684+6T= (n.684+6T=) c.717+6T= (n.717+6T=) c.694+6T= n.822+6T= c.681+6T= (n.681+6T=) c.-113+6T= (n.-113+6T=) c.336+6T= (n.336+6T=) c.822+6T= (n.822+6T=) | |
8 | g.132174233A>G | CA585236098 | KCNQ3 | c.1044+6T>C (n.1044+6T>C) c.684+6T>C (n.684+6T>C) c.717+6T>C (n.717+6T>C) c.694+6T>C n.822+6T>C c.681+6T>C (n.681+6T>C) c.-113+6T>C (n.-113+6T>C) c.336+6T>C (n.336+6T>C) c.822+6T>C (n.822+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.132174234C>A | CA585236100 | KCNQ3 | c.1044+5G>T (n.1044+5G>T) c.684+5G>T (n.684+5G>T) c.717+5G>T (n.717+5G>T) c.694+5G>T n.822+5G>T c.681+5G>T (n.681+5G>T) c.-113+5G>T (n.-113+5G>T) c.336+5G>T (n.336+5G>T) c.822+5G>T (n.822+5G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132174234C= | CA1820664008 | KCNQ3 | c.1044+5G= (n.1044+5G=) c.684+5G= (n.684+5G=) c.717+5G= (n.717+5G=) c.694+5G= n.822+5G= c.681+5G= (n.681+5G=) c.-113+5G= (n.-113+5G=) c.336+5G= (n.336+5G=) c.822+5G= (n.822+5G=) | |
8 | g.132174235T>A | CA2688627206 | KCNQ3 | c.1044+4A>T (n.1044+4A>T) c.684+4A>T (n.684+4A>T) c.717+4A>T (n.717+4A>T) c.694+4A>T n.822+4A>T c.681+4A>T (n.681+4A>T) c.-113+4A>T (n.-113+4A>T) c.336+4A>T (n.336+4A>T) c.822+4A>T (n.822+4A>T) | gnomAD v4 |
8 | g.132174236del | CA2688627205 | KCNQ3 | c.1044+4del (n.1044+4del) c.684+4del (n.684+4del) c.717+4del (n.717+4del) c.694+4del n.822+4del c.681+4del (n.681+4del) c.-113+4del (n.-113+4del) c.336+4del (n.336+4del) c.822+4del (n.822+4del) | gnomAD v4 |
8 | g.132174237A>C | CA372290037 | KCNQ3 | c.1044+2T>G (n.1044+2T>G) c.684+2T>G (n.684+2T>G) c.717+2T>G (n.717+2T>G) c.694+2T>G n.822+2T>G c.681+2T>G (n.681+2T>G) c.-113+2T>G (n.-113+2T>G) c.336+2T>G (n.336+2T>G) c.822+2T>G (n.822+2T>G) | |
8 | g.132174237A>G | CA372290035 | KCNQ3 | c.1044+2T>C (n.1044+2T>C) c.684+2T>C (n.684+2T>C) c.717+2T>C (n.717+2T>C) c.694+2T>C n.822+2T>C c.681+2T>C (n.681+2T>C) c.-113+2T>C (n.-113+2T>C) c.336+2T>C (n.336+2T>C) c.822+2T>C (n.822+2T>C) | |
8 | g.132174237A>T | CA372290036 | KCNQ3 | c.1044+2T>A (n.1044+2T>A) c.684+2T>A (n.684+2T>A) c.717+2T>A (n.717+2T>A) c.694+2T>A n.822+2T>A c.681+2T>A (n.681+2T>A) c.-113+2T>A (n.-113+2T>A) c.336+2T>A (n.336+2T>A) c.822+2T>A (n.822+2T>A) | |
8 | g.132174238C>A | CA372290038 | KCNQ3 | c.1044+1G>T (n.1044+1G>T) c.684+1G>T (n.684+1G>T) c.717+1G>T (n.717+1G>T) c.694+1G>T n.822+1G>T c.681+1G>T (n.681+1G>T) c.-113+1G>T (n.-113+1G>T) c.336+1G>T (n.336+1G>T) c.822+1G>T (n.822+1G>T) | |
8 | g.132174238C= | CA1820664009 | KCNQ3 | c.1044+1G= (n.1044+1G=) c.684+1G= (n.684+1G=) c.717+1G= (n.717+1G=) c.694+1G= n.822+1G= c.681+1G= (n.681+1G=) c.-113+1G= (n.-113+1G=) c.336+1G= (n.336+1G=) c.822+1G= (n.822+1G=) | |
8 | g.132174238C>G | CA372290039 | KCNQ3 | c.1044+1G>C (n.1044+1G>C) c.684+1G>C (n.684+1G>C) c.717+1G>C (n.717+1G>C) c.694+1G>C n.822+1G>C c.681+1G>C (n.681+1G>C) c.-113+1G>C (n.-113+1G>C) c.336+1G>C (n.336+1G>C) c.822+1G>C (n.822+1G>C) | |
8 | g.132174238C>T | CA372290040 | KCNQ3 | c.1044+1G>A (n.1044+1G>A) c.684+1G>A (n.684+1G>A) c.717+1G>A (n.717+1G>A) c.694+1G>A n.822+1G>A c.681+1G>A (n.681+1G>A) c.-113+1G>A (n.-113+1G>A) c.336+1G>A (n.336+1G>A) c.822+1G>A (n.822+1G>A) | dbSNP |
8 | g.132174239C>A | CA463070251 | KCNQ3 | c.1044G>T (p.Ala348=) c.684G>T (p.Ala228=) c.717G>T (p.Ala239=) c.694G>T n.822G>T c.681G>T (p.Ala227=) c.-113G>T (n.-113G>T) c.336G>T (p.Ala112=) c.822G>T (p.Ala274=) | gnomAD v4 |
8 | g.132174239C= | CA1820664010 | KCNQ3 | c.1044G= (p.Ala348=) c.684G= (p.Ala228=) c.717G= (p.Ala239=) c.694G= n.822G= c.681G= (p.Ala227=) c.-113G= (n.-113G=) c.336G= (p.Ala112=) c.822G= (p.Ala274=) | |
8 | g.132174239C>G | CA463070252 | KCNQ3 | c.1044G>C (p.Ala348=) c.684G>C (p.Ala228=) c.717G>C (p.Ala239=) c.694G>C n.822G>C c.681G>C (p.Ala227=) c.-113G>C (n.-113G>C) c.336G>C (p.Ala112=) c.822G>C (p.Ala274=) | gnomAD v4 |
8 | g.132174239C>T | CA4880799 | KCNQ3 | c.1044G>A (p.Ala348=) c.684G>A (p.Ala228=) c.717G>A (p.Ala239=) c.694G>A n.822G>A c.681G>A (p.Ala227=) c.-113G>A (n.-113G>A) c.336G>A (p.Ala112=) c.822G>A (p.Ala274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132174240G>A | CA315601 | KCNQ3 | c.1043C>T (p.Ala348Val) c.683C>T (p.Ala228Val) c.716C>T (p.Ala239Val) c.693C>T n.821C>T c.680C>T (p.Ala227Val) c.-114C>T (n.-114C>T) c.335C>T (p.Ala112Val) c.821C>T (p.Ala274Val) | ClinVar dbSNP gnomAD v4 |
8 | g.132174240G>C | CA372290041 | KCNQ3 | c.1043C>G (p.Ala348Gly) c.683C>G (p.Ala228Gly) c.716C>G (p.Ala239Gly) c.693C>G n.821C>G c.680C>G (p.Ala227Gly) c.-114C>G (n.-114C>G) c.335C>G (p.Ala112Gly) c.821C>G (p.Ala274Gly) | |
8 | g.132174240G= | CA1820664011 | KCNQ3 | c.1043C= (p.Ala348=) c.683C= (p.Ala228=) c.716C= (p.Ala239=) c.693C= n.821C= c.680C= (p.Ala227=) c.-114C= (n.-114C=) c.335C= (p.Ala112=) c.821C= (p.Ala274=) | |
8 | g.132174240G>T | CA372290042 | KCNQ3 | c.1043C>A (p.Ala348Glu) c.683C>A (p.Ala228Glu) c.716C>A (p.Ala239Glu) c.693C>A n.821C>A c.680C>A (p.Ala227Glu) c.-114C>A (n.-114C>A) c.335C>A (p.Ala112Glu) c.821C>A (p.Ala274Glu) | gnomAD v4 |
8 | g.132174241C>A | CA372290043 | KCNQ3 | c.1042G>T (p.Ala348Ser) c.682G>T (p.Ala228Ser) c.715G>T (p.Ala239Ser) c.692G>T n.820G>T c.679G>T (p.Ala227Ser) c.-115G>T (n.-115G>T) c.334G>T (p.Ala112Ser) c.820G>T (p.Ala274Ser) | gnomAD v4 |
8 | g.132174241C= | CA1820664012 | KCNQ3 | c.1042G= (p.Ala348=) c.682G= (p.Ala228=) c.715G= (p.Ala239=) c.692G= n.820G= c.679G= (p.Ala227=) c.-115G= (n.-115G=) c.334G= (p.Ala112=) c.820G= (p.Ala274=) | |
8 | g.132174241C>G | CA372290044 | KCNQ3 | c.1042G>C (p.Ala348Pro) c.682G>C (p.Ala228Pro) c.715G>C (p.Ala239Pro) c.692G>C n.820G>C c.679G>C (p.Ala227Pro) c.-115G>C (n.-115G>C) c.334G>C (p.Ala112Pro) c.820G>C (p.Ala274Pro) | |
8 | g.132174241C>T | CA372290045 | KCNQ3 | c.1042G>A (p.Ala348Thr) c.682G>A (p.Ala228Thr) c.715G>A (p.Ala239Thr) c.692G>A n.820G>A c.679G>A (p.Ala227Thr) c.-115G>A (n.-115G>A) c.334G>A (p.Ala112Thr) c.820G>A (p.Ala274Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132174242T>A | CA463070253 | KCNQ3 | c.1041A>T (p.Pro347=) c.681A>T (p.Pro227=) c.714A>T (p.Pro238=) c.691A>T n.819A>T c.678A>T (p.Pro226=) c.-116A>T (n.-116A>T) c.333A>T (p.Pro111=) c.819A>T (p.Pro273=) | |
8 | g.132174242T>C | CA186223371 | KCNQ3 | c.1041A>G (p.Pro347=) c.681A>G (p.Pro227=) c.714A>G (p.Pro238=) c.691A>G n.819A>G c.678A>G (p.Pro226=) c.-116A>G (n.-116A>G) c.333A>G (p.Pro111=) c.819A>G (p.Pro273=) | dbSNP gnomAD v4 |
8 | g.132174242T>G | CA463070254 | KCNQ3 | c.1041A>C (p.Pro347=) c.681A>C (p.Pro227=) c.714A>C (p.Pro238=) c.691A>C n.819A>C c.678A>C (p.Pro226=) c.-116A>C (n.-116A>C) c.333A>C (p.Pro111=) c.819A>C (p.Pro273=) | |
8 | g.132174242T= | CA1820664013 | KCNQ3 | c.1041A= (p.Pro347=) c.681A= (p.Pro227=) c.714A= (p.Pro238=) c.691A= n.819A= c.678A= (p.Pro226=) c.-116A= (n.-116A=) c.333A= (p.Pro111=) c.819A= (p.Pro273=) | |
8 | g.132174243G>A | CA372290048 | KCNQ3 | c.1040C>T (p.Pro347Leu) c.680C>T (p.Pro227Leu) c.713C>T (p.Pro238Leu) c.690C>T n.818C>T c.677C>T (p.Pro226Leu) c.-117C>T (n.-117C>T) c.332C>T (p.Pro111Leu) c.818C>T (p.Pro273Leu) | ClinVar dbSNP |
8 | g.132174243G>C | CA372290046 | KCNQ3 | c.1040C>G (p.Pro347Arg) c.680C>G (p.Pro227Arg) c.713C>G (p.Pro238Arg) c.690C>G n.818C>G c.677C>G (p.Pro226Arg) c.-117C>G (n.-117C>G) c.332C>G (p.Pro111Arg) c.818C>G (p.Pro273Arg) | |
8 | g.132174243G>T | CA372290047 | KCNQ3 | c.1040C>A (p.Pro347Gln) c.680C>A (p.Pro227Gln) c.713C>A (p.Pro238Gln) c.690C>A n.818C>A c.677C>A (p.Pro226Gln) c.-117C>A (n.-117C>A) c.332C>A (p.Pro111Gln) c.818C>A (p.Pro273Gln) | gnomAD v4 |
8 | g.132174244G>A | CA372290049 | KCNQ3 | c.1039C>T (p.Pro347Ser) c.679C>T (p.Pro227Ser) c.712C>T (p.Pro238Ser) c.689C>T n.817C>T c.676C>T (p.Pro226Ser) c.-118C>T (n.-118C>T) c.331C>T (p.Pro111Ser) c.817C>T (p.Pro273Ser) | COSMIC |
8 | g.132174244G>C | CA372290050 | KCNQ3 | c.1039C>G (p.Pro347Ala) c.679C>G (p.Pro227Ala) c.712C>G (p.Pro238Ala) c.689C>G n.817C>G c.676C>G (p.Pro226Ala) c.-118C>G (n.-118C>G) c.331C>G (p.Pro111Ala) c.817C>G (p.Pro273Ala) | |
8 | g.132174244G>T | CA372290051 | KCNQ3 | c.1039C>A (p.Pro347Thr) c.679C>A (p.Pro227Thr) c.712C>A (p.Pro238Thr) c.689C>A n.817C>A c.676C>A (p.Pro226Thr) c.-118C>A (n.-118C>A) c.331C>A (p.Pro111Thr) c.817C>A (p.Pro273Thr) | |
8 | g.132174245A>C | CA463070255 | KCNQ3 | c.1038T>G (p.Leu346=) c.678T>G (p.Leu226=) c.711T>G (p.Leu237=) c.688T>G n.816T>G c.675T>G (p.Leu225=) c.-119T>G (n.-119T>G) c.330T>G (p.Leu110=) c.816T>G (p.Leu272=) | |
8 | g.132174245A>G | CA463070256 | KCNQ3 | c.1038T>C (p.Leu346=) c.678T>C (p.Leu226=) c.711T>C (p.Leu237=) c.688T>C n.816T>C c.675T>C (p.Leu225=) c.-119T>C (n.-119T>C) c.330T>C (p.Leu110=) c.816T>C (p.Leu272=) | |
8 | g.132174245A>T | CA463070257 | KCNQ3 | c.1038T>A (p.Leu346=) c.678T>A (p.Leu226=) c.711T>A (p.Leu237=) c.688T>A n.816T>A c.675T>A (p.Leu225=) c.-119T>A (n.-119T>A) c.330T>A (p.Leu110=) c.816T>A (p.Leu272=) | |
8 | g.132174246A>C | CA372290052 | KCNQ3 | c.1037T>G (p.Leu346Arg) c.677T>G (p.Leu226Arg) c.710T>G (p.Leu237Arg) c.687T>G n.815T>G c.674T>G (p.Leu225Arg) c.-120T>G (n.-120T>G) c.329T>G (p.Leu110Arg) c.815T>G (p.Leu272Arg) | |
8 | g.132174246A>G | CA372290053 | KCNQ3 | c.1037T>C (p.Leu346Pro) c.677T>C (p.Leu226Pro) c.710T>C (p.Leu237Pro) c.687T>C n.815T>C c.674T>C (p.Leu225Pro) c.-120T>C (n.-120T>C) c.329T>C (p.Leu110Pro) c.815T>C (p.Leu272Pro) | |
8 | g.132174246A>T | CA372290054 | KCNQ3 | c.1037T>A (p.Leu346His) c.677T>A (p.Leu226His) c.710T>A (p.Leu237His) c.687T>A n.815T>A c.674T>A (p.Leu225His) c.-120T>A (n.-120T>A) c.329T>A (p.Leu110His) c.815T>A (p.Leu272His) | gnomAD v4 |
8 | g.132174247G>A | CA372290055 | KCNQ3 | c.1036C>T (p.Leu346Phe) c.676C>T (p.Leu226Phe) c.709C>T (p.Leu237Phe) c.686C>T n.814C>T c.673C>T (p.Leu225Phe) c.-121C>T (n.-121C>T) c.328C>T (p.Leu110Phe) c.814C>T (p.Leu272Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.132174247G>C | CA372290056 | KCNQ3 | c.1036C>G (p.Leu346Val) c.676C>G (p.Leu226Val) c.709C>G (p.Leu237Val) c.686C>G n.814C>G c.673C>G (p.Leu225Val) c.-121C>G (n.-121C>G) c.328C>G (p.Leu110Val) c.814C>G (p.Leu272Val) | |
8 | g.132174247G= | CA1820664014 | KCNQ3 | c.1036C= (p.Leu346=) c.676C= (p.Leu226=) c.709C= (p.Leu237=) c.686C= n.814C= c.673C= (p.Leu225=) c.-121C= (n.-121C=) c.328C= (p.Leu110=) c.814C= (p.Leu272=) | |
8 | g.132174247G>T | CA372290057 | KCNQ3 | c.1036C>A (p.Leu346Ile) c.676C>A (p.Leu226Ile) c.709C>A (p.Leu237Ile) c.686C>A n.814C>A c.673C>A (p.Leu225Ile) c.-121C>A (n.-121C>A) c.328C>A (p.Leu110Ile) c.814C>A (p.Leu272Ile) | gnomAD v4 |
8 | g.132174248G>A | CA463070258 | KCNQ3 | c.1035C>T (p.Ala345=) c.675C>T (p.Ala225=) c.708C>T (p.Ala236=) c.685C>T n.813C>T c.672C>T (p.Ala224=) c.-122C>T (n.-122C>T) c.327C>T (p.Ala109=) c.813C>T (p.Ala271=) | gnomAD v4 |
8 | g.132174248G>C | CA463070259 | KCNQ3 | c.1035C>G (p.Ala345=) c.675C>G (p.Ala225=) c.708C>G (p.Ala236=) c.685C>G n.813C>G c.672C>G (p.Ala224=) c.-122C>G (n.-122C>G) c.327C>G (p.Ala109=) c.813C>G (p.Ala271=) | |
8 | g.132174248G>T | CA463070260 | KCNQ3 | c.1035C>A (p.Ala345=) c.675C>A (p.Ala225=) c.708C>A (p.Ala236=) c.685C>A n.813C>A c.672C>A (p.Ala224=) c.-122C>A (n.-122C>A) c.327C>A (p.Ala109=) c.813C>A (p.Ala271=) | gnomAD v4 |
8 | g.132174249G>A | CA372290058 | KCNQ3 | c.1034C>T (p.Ala345Val) c.674C>T (p.Ala225Val) c.707C>T (p.Ala236Val) c.684C>T n.812C>T c.671C>T (p.Ala224Val) c.-123C>T (n.-123C>T) c.326C>T (p.Ala109Val) c.812C>T (p.Ala271Val) | ClinVar dbSNP gnomAD v4 |
8 | g.132174249G>C | CA372290059 | KCNQ3 | c.1034C>G (p.Ala345Gly) c.674C>G (p.Ala225Gly) c.707C>G (p.Ala236Gly) c.684C>G n.812C>G c.671C>G (p.Ala224Gly) c.-123C>G (n.-123C>G) c.326C>G (p.Ala109Gly) c.812C>G (p.Ala271Gly) | |
8 | g.132174249G>T | CA372290060 | KCNQ3 | c.1034C>A (p.Ala345Asp) c.674C>A (p.Ala225Asp) c.707C>A (p.Ala236Asp) c.684C>A n.812C>A c.671C>A (p.Ala224Asp) c.-123C>A (n.-123C>A) c.326C>A (p.Ala109Asp) c.812C>A (p.Ala271Asp) | |
8 | g.132174250C>A | CA372290062 | KCNQ3 | c.1033G>T (p.Ala345Ser) c.673G>T (p.Ala225Ser) c.706G>T (p.Ala236Ser) c.683G>T n.811G>T c.670G>T (p.Ala224Ser) c.-124G>T (n.-124G>T) c.325G>T (p.Ala109Ser) c.811G>T (p.Ala271Ser) | gnomAD v4 |
8 | g.132174250C>G | CA372290063 | KCNQ3 | c.1033G>C (p.Ala345Pro) c.673G>C (p.Ala225Pro) c.706G>C (p.Ala236Pro) c.683G>C n.811G>C c.670G>C (p.Ala224Pro) c.-124G>C (n.-124G>C) c.325G>C (p.Ala109Pro) c.811G>C (p.Ala271Pro) | |
8 | g.132174250C>T | CA372290061 | KCNQ3 | c.1033G>A (p.Ala345Thr) c.673G>A (p.Ala225Thr) c.706G>A (p.Ala236Thr) c.683G>A n.811G>A c.670G>A (p.Ala224Thr) c.-124G>A (n.-124G>A) c.325G>A (p.Ala109Thr) c.811G>A (p.Ala271Thr) | gnomAD v4 |
8 | g.132174251A= | CA1820664015 | KCNQ3 | c.1032T= (p.Phe344=) c.672T= (p.Phe224=) c.705T= (p.Phe235=) c.682T= n.810T= c.669T= (p.Phe223=) c.-125T= (n.-125T=) c.324T= (p.Phe108=) c.810T= (p.Phe270=) | |
8 | g.132174251A>C | CA372290065 | KCNQ3 | c.1032T>G (p.Phe344Leu) c.672T>G (p.Phe224Leu) c.705T>G (p.Phe235Leu) c.682T>G n.810T>G c.669T>G (p.Phe223Leu) c.-125T>G (n.-125T>G) c.324T>G (p.Phe108Leu) c.810T>G (p.Phe270Leu) | |
8 | g.132174251A>G | CA463070261 | KCNQ3 | c.1032T>C (p.Phe344=) c.672T>C (p.Phe224=) c.705T>C (p.Phe235=) c.682T>C n.810T>C c.669T>C (p.Phe223=) c.-125T>C (n.-125T>C) c.324T>C (p.Phe108=) c.810T>C (p.Phe270=) | ClinVar dbSNP |
8 | g.132174251A>T | CA372290064 | KCNQ3 | c.1032T>A (p.Phe344Leu) c.672T>A (p.Phe224Leu) c.705T>A (p.Phe235Leu) c.682T>A n.810T>A c.669T>A (p.Phe223Leu) c.-125T>A (n.-125T>A) c.324T>A (p.Phe108Leu) c.810T>A (p.Phe270Leu) | |
8 | g.132174256del | CA2688627207 | KCNQ3 | c.1032del (p.Phe344LeufsTer?) c.672del (p.Phe224LeufsTer?) c.705del (p.Phe235LeufsTer?) c.682del n.810del c.669del (p.Phe223LeufsTer?) c.-125del (n.-125del) c.324del (p.Phe108LeufsTer?) c.810del (p.Phe270LeufsTer?) | gnomAD v4 |
8 | g.132174252A>C | CA372290066 | KCNQ3 | c.1031T>G (p.Phe344Cys) c.671T>G (p.Phe224Cys) c.704T>G (p.Phe235Cys) c.681T>G n.809T>G c.668T>G (p.Phe223Cys) c.-126T>G (n.-126T>G) c.323T>G (p.Phe108Cys) c.809T>G (p.Phe270Cys) | |
8 | g.132174252A>G | CA372290067 | KCNQ3 | c.1031T>C (p.Phe344Ser) c.671T>C (p.Phe224Ser) c.704T>C (p.Phe235Ser) c.681T>C n.809T>C c.668T>C (p.Phe223Ser) c.-126T>C (n.-126T>C) c.323T>C (p.Phe108Ser) c.809T>C (p.Phe270Ser) | |
8 | g.132174252A>T | CA372290068 | KCNQ3 | c.1031T>A (p.Phe344Tyr) c.671T>A (p.Phe224Tyr) c.704T>A (p.Phe235Tyr) c.681T>A n.809T>A c.668T>A (p.Phe223Tyr) c.-126T>A (n.-126T>A) c.323T>A (p.Phe108Tyr) c.809T>A (p.Phe270Tyr) | gnomAD v4 |
8 | g.132174253A>C | CA372290069 | KCNQ3 | c.1030T>G (p.Phe344Val) c.670T>G (p.Phe224Val) c.703T>G (p.Phe235Val) c.680T>G n.808T>G c.667T>G (p.Phe223Val) c.-127T>G (n.-127T>G) c.322T>G (p.Phe108Val) c.808T>G (p.Phe270Val) | |
8 | g.132174253A>G | CA372290070 | KCNQ3 | c.1030T>C (p.Phe344Leu) c.670T>C (p.Phe224Leu) c.703T>C (p.Phe235Leu) c.680T>C n.808T>C c.667T>C (p.Phe223Leu) c.-127T>C (n.-127T>C) c.322T>C (p.Phe108Leu) c.808T>C (p.Phe270Leu) | |
8 | g.132174253A>T | CA372290071 | KCNQ3 | c.1030T>A (p.Phe344Ile) c.670T>A (p.Phe224Ile) c.703T>A (p.Phe235Ile) c.680T>A n.808T>A c.667T>A (p.Phe223Ile) c.-127T>A (n.-127T>A) c.322T>A (p.Phe108Ile) c.808T>A (p.Phe270Ile) | |
8 | g.132174254A>C | CA372290072 | KCNQ3 | c.1029T>G (p.Phe343Leu) c.669T>G (p.Phe223Leu) c.702T>G (p.Phe234Leu) c.679T>G n.807T>G c.666T>G (p.Phe222Leu) c.-128T>G (n.-128T>G) c.321T>G (p.Phe107Leu) c.807T>G (p.Phe269Leu) | |
8 | g.132174254A>G | CA463070262 | KCNQ3 | c.1029T>C (p.Phe343=) c.669T>C (p.Phe223=) c.702T>C (p.Phe234=) c.679T>C n.807T>C c.666T>C (p.Phe222=) c.-128T>C (n.-128T>C) c.321T>C (p.Phe107=) c.807T>C (p.Phe269=) | |
8 | g.132174254A>T | CA372290073 | KCNQ3 | c.1029T>A (p.Phe343Leu) c.669T>A (p.Phe223Leu) c.702T>A (p.Phe234Leu) c.679T>A n.807T>A c.666T>A (p.Phe222Leu) c.-128T>A (n.-128T>A) c.321T>A (p.Phe107Leu) c.807T>A (p.Phe269Leu) | |
8 | g.132174255A>C | CA372290074 | KCNQ3 | c.1028T>G (p.Phe343Cys) c.668T>G (p.Phe223Cys) c.701T>G (p.Phe234Cys) c.678T>G n.806T>G c.665T>G (p.Phe222Cys) c.-129T>G (n.-129T>G) c.320T>G (p.Phe107Cys) c.806T>G (p.Phe269Cys) | gnomAD v4 |
8 | g.132174255A>G | CA372290075 | KCNQ3 | c.1028T>C (p.Phe343Ser) c.668T>C (p.Phe223Ser) c.701T>C (p.Phe234Ser) c.678T>C n.806T>C c.665T>C (p.Phe222Ser) c.-129T>C (n.-129T>C) c.320T>C (p.Phe107Ser) c.806T>C (p.Phe269Ser) | ClinVar dbSNP |
8 | g.132174255A>T | CA372290076 | KCNQ3 | c.1028T>A (p.Phe343Tyr) c.668T>A (p.Phe223Tyr) c.701T>A (p.Phe234Tyr) c.678T>A n.806T>A c.665T>A (p.Phe222Tyr) c.-129T>A (n.-129T>A) c.320T>A (p.Phe107Tyr) c.806T>A (p.Phe269Tyr) | |
8 | g.132174256A>C | CA372290079 | KCNQ3 | c.1027T>G (p.Phe343Val) c.667T>G (p.Phe223Val) c.700T>G (p.Phe234Val) c.677T>G n.805T>G c.664T>G (p.Phe222Val) c.-130T>G (n.-130T>G) c.319T>G (p.Phe107Val) c.805T>G (p.Phe269Val) | gnomAD v4 |
8 | g.132174256A>G | CA372290077 | KCNQ3 | c.1027T>C (p.Phe343Leu) c.667T>C (p.Phe223Leu) c.700T>C (p.Phe234Leu) c.677T>C n.805T>C c.664T>C (p.Phe222Leu) c.-130T>C (n.-130T>C) c.319T>C (p.Phe107Leu) c.805T>C (p.Phe269Leu) | gnomAD v4 |
8 | g.132174256A>T | CA372290078 | KCNQ3 | c.1027T>A (p.Phe343Ile) c.667T>A (p.Phe223Ile) c.700T>A (p.Phe234Ile) c.677T>A n.805T>A c.664T>A (p.Phe222Ile) c.-130T>A (n.-130T>A) c.319T>A (p.Phe107Ile) c.805T>A (p.Phe269Ile) | COSMIC |
8 | g.132174257G>A | CA16605180 | KCNQ3 | c.1026C>T (p.Ser342=) c.666C>T (p.Ser222=) c.699C>T (p.Ser233=) c.676C>T n.804C>T c.663C>T (p.Ser221=) c.-131C>T (n.-131C>T) c.318C>T (p.Ser106=) c.804C>T (p.Ser268=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.132174257G>C | CA463070263 | KCNQ3 | c.1026C>G (p.Ser342=) c.666C>G (p.Ser222=) c.699C>G (p.Ser233=) c.676C>G n.804C>G c.663C>G (p.Ser221=) c.-131C>G (n.-131C>G) c.318C>G (p.Ser106=) c.804C>G (p.Ser268=) | gnomAD v4 |
8 | g.132174257G= | CA1820664016 | KCNQ3 | c.1026C= (p.Ser342=) c.666C= (p.Ser222=) c.699C= (p.Ser233=) c.676C= n.804C= c.663C= (p.Ser221=) c.-131C= (n.-131C=) c.318C= (p.Ser106=) c.804C= (p.Ser268=) | |
8 | g.132174257G>T | CA463070264 | KCNQ3 | c.1026C>A (p.Ser342=) c.666C>A (p.Ser222=) c.699C>A (p.Ser233=) c.676C>A n.804C>A c.663C>A (p.Ser221=) c.-131C>A (n.-131C>A) c.318C>A (p.Ser106=) c.804C>A (p.Ser268=) | |
8 | g.132174258G>A | CA372290080 | KCNQ3 | c.1025C>T (p.Ser342Phe) c.665C>T (p.Ser222Phe) c.698C>T (p.Ser233Phe) c.675C>T n.803C>T c.662C>T (p.Ser221Phe) c.-132C>T (n.-132C>T) c.317C>T (p.Ser106Phe) c.803C>T (p.Ser268Phe) | |
8 | g.132174258G>C | CA372290081 | KCNQ3 | c.1025C>G (p.Ser342Cys) c.665C>G (p.Ser222Cys) c.698C>G (p.Ser233Cys) c.675C>G n.803C>G c.662C>G (p.Ser221Cys) c.-132C>G (n.-132C>G) c.317C>G (p.Ser106Cys) c.803C>G (p.Ser268Cys) | |
8 | g.132174258G>T | CA372290082 | KCNQ3 | c.1025C>A (p.Ser342Tyr) c.665C>A (p.Ser222Tyr) c.698C>A (p.Ser233Tyr) c.675C>A n.803C>A c.662C>A (p.Ser221Tyr) c.-132C>A (n.-132C>A) c.317C>A (p.Ser106Tyr) c.803C>A (p.Ser268Tyr) | gnomAD v4 |
8 | g.132174259A>C | CA372290083 | KCNQ3 | c.1024T>G (p.Ser342Ala) c.664T>G (p.Ser222Ala) c.697T>G (p.Ser233Ala) c.674T>G n.802T>G c.661T>G (p.Ser221Ala) c.-133T>G (n.-133T>G) c.316T>G (p.Ser106Ala) c.802T>G (p.Ser268Ala) | |
8 | g.132174259A>G | CA372290084 | KCNQ3 | c.1024T>C (p.Ser342Pro) c.664T>C (p.Ser222Pro) c.697T>C (p.Ser233Pro) c.674T>C n.802T>C c.661T>C (p.Ser221Pro) c.-133T>C (n.-133T>C) c.316T>C (p.Ser106Pro) c.802T>C (p.Ser268Pro) | gnomAD v4 |
8 | g.132174259A>T | CA372290085 | KCNQ3 | c.1024T>A (p.Ser342Thr) c.664T>A (p.Ser222Thr) c.697T>A (p.Ser233Thr) c.674T>A n.802T>A c.661T>A (p.Ser221Thr) c.-133T>A (n.-133T>A) c.316T>A (p.Ser106Thr) c.802T>A (p.Ser268Thr) | |
8 | g.132174260G>A | CA463070266 | KCNQ3 | c.1023C>T (p.Val341=) c.663C>T (p.Val221=) c.696C>T (p.Val232=) c.673C>T n.801C>T c.660C>T (p.Val220=) c.-134C>T (n.-134C>T) c.315C>T (p.Val105=) c.801C>T (p.Val267=) | |
8 | g.132174260G>C | CA463070267 | KCNQ3 | c.1023C>G (p.Val341=) c.663C>G (p.Val221=) c.696C>G (p.Val232=) c.673C>G n.801C>G c.660C>G (p.Val220=) c.-134C>G (n.-134C>G) c.315C>G (p.Val105=) c.801C>G (p.Val267=) | |
8 | g.132174260G>T | CA463070268 | KCNQ3 | c.1023C>A (p.Val341=) c.663C>A (p.Val221=) c.696C>A (p.Val232=) c.673C>A n.801C>A c.660C>A (p.Val220=) c.-134C>A (n.-134C>A) c.315C>A (p.Val105=) c.801C>A (p.Val267=) | |
8 | g.132174261A>C | CA372290086 | KCNQ3 | c.1022T>G (p.Val341Gly) c.662T>G (p.Val221Gly) c.695T>G (p.Val232Gly) c.672T>G n.800T>G c.659T>G (p.Val220Gly) c.-135T>G (n.-135T>G) c.314T>G (p.Val105Gly) c.800T>G (p.Val267Gly) | |
8 | g.132174261A>G | CA372290087 | KCNQ3 | c.1022T>C (p.Val341Ala) c.662T>C (p.Val221Ala) c.695T>C (p.Val232Ala) c.672T>C n.800T>C c.659T>C (p.Val220Ala) c.-135T>C (n.-135T>C) c.314T>C (p.Val105Ala) c.800T>C (p.Val267Ala) | |
8 | g.132174261A>T | CA372290088 | KCNQ3 | c.1022T>A (p.Val341Asp) c.662T>A (p.Val221Asp) c.695T>A (p.Val232Asp) c.672T>A n.800T>A c.659T>A (p.Val220Asp) c.-135T>A (n.-135T>A) c.314T>A (p.Val105Asp) c.800T>A (p.Val267Asp) | |
8 | g.132174262C>A | CA372290089 | KCNQ3 | c.1021G>T (p.Val341Phe) c.661G>T (p.Val221Phe) c.694G>T (p.Val232Phe) c.671G>T n.799G>T c.658G>T (p.Val220Phe) c.-136G>T (n.-136G>T) c.313G>T (p.Val105Phe) c.799G>T (p.Val267Phe) | |
8 | g.132174262C= | CA1820664017 | KCNQ3 | c.1021G= (p.Val341=) c.661G= (p.Val221=) c.694G= (p.Val232=) c.671G= n.799G= c.658G= (p.Val220=) c.-136G= (n.-136G=) c.313G= (p.Val105=) c.799G= (p.Val267=) | |
8 | g.132174262C>G | CA372290090 | KCNQ3 | c.1021G>C (p.Val341Leu) c.661G>C (p.Val221Leu) c.694G>C (p.Val232Leu) c.671G>C n.799G>C c.658G>C (p.Val220Leu) c.-136G>C (n.-136G>C) c.313G>C (p.Val105Leu) c.799G>C (p.Val267Leu) | |
8 | g.132174262C>T | CA4880800 | KCNQ3 | c.1021G>A (p.Val341Ile) c.661G>A (p.Val221Ile) c.694G>A (p.Val232Ile) c.671G>A n.799G>A c.658G>A (p.Val220Ile) c.-136G>A (n.-136G>A) c.313G>A (p.Val105Ile) c.799G>A (p.Val267Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.132174263G>A | CA463070269 | KCNQ3 | c.1020C>T (p.Gly340=) c.660C>T (p.Gly220=) c.693C>T (p.Gly231=) c.670C>T n.798C>T c.657C>T (p.Gly219=) c.-137C>T (n.-137C>T) c.312C>T (p.Gly104=) c.798C>T (p.Gly266=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132174263G>C | CA463070270 | KCNQ3 | c.1020C>G (p.Gly340=) c.660C>G (p.Gly220=) c.693C>G (p.Gly231=) c.670C>G n.798C>G c.657C>G (p.Gly219=) c.-137C>G (n.-137C>G) c.312C>G (p.Gly104=) c.798C>G (p.Gly266=) | |
8 | g.132174263G= | CA1820664018 | KCNQ3 | c.1020C= (p.Gly340=) c.660C= (p.Gly220=) c.693C= (p.Gly231=) c.670C= n.798C= c.657C= (p.Gly219=) c.-137C= (n.-137C=) c.312C= (p.Gly104=) c.798C= (p.Gly266=) | |
8 | g.132174263G>T | CA463070271 | KCNQ3 | c.1020C>A (p.Gly340=) c.660C>A (p.Gly220=) c.693C>A (p.Gly231=) c.670C>A n.798C>A c.657C>A (p.Gly219=) c.-137C>A (n.-137C>A) c.312C>A (p.Gly104=) c.798C>A (p.Gly266=) | gnomAD v4 |
8 | g.132174264C>A | CA372290092 | KCNQ3 | c.1019G>T (p.Gly340Val) c.659G>T (p.Gly220Val) c.692G>T (p.Gly231Val) c.669G>T n.797G>T c.656G>T (p.Gly219Val) c.-138G>T (n.-138G>T) c.311G>T (p.Gly104Val) c.797G>T (p.Gly266Val) | ClinVar dbSNP gnomAD v4 |
8 | g.132174264C>G | CA372290093 | KCNQ3 | c.1019G>C (p.Gly340Ala) c.659G>C (p.Gly220Ala) c.692G>C (p.Gly231Ala) c.669G>C n.797G>C c.656G>C (p.Gly219Ala) c.-138G>C (n.-138G>C) c.311G>C (p.Gly104Ala) c.797G>C (p.Gly266Ala) | |
8 | g.132174264C>T | CA372290091 | KCNQ3 | c.1019G>A (p.Gly340Asp) c.659G>A (p.Gly220Asp) c.692G>A (p.Gly231Asp) c.669G>A n.797G>A c.656G>A (p.Gly219Asp) c.-138G>A (n.-138G>A) c.311G>A (p.Gly104Asp) c.797G>A (p.Gly266Asp) | |
8 | g.132174265C>A | CA372290094 | KCNQ3 | c.1018G>T (p.Gly340Cys) c.658G>T (p.Gly220Cys) c.691G>T (p.Gly231Cys) c.668G>T n.796G>T c.655G>T (p.Gly219Cys) c.-139G>T (n.-139G>T) c.310G>T (p.Gly104Cys) c.796G>T (p.Gly266Cys) | |
8 | g.132174265C>G | CA372290095 | KCNQ3 | c.1018G>C (p.Gly340Arg) c.658G>C (p.Gly220Arg) c.691G>C (p.Gly231Arg) c.668G>C n.796G>C c.655G>C (p.Gly219Arg) c.-139G>C (n.-139G>C) c.310G>C (p.Gly104Arg) c.796G>C (p.Gly266Arg) | |
8 | g.132174265C>T | CA372290096 | KCNQ3 | c.1018G>A (p.Gly340Ser) c.658G>A (p.Gly220Ser) c.691G>A (p.Gly231Ser) c.668G>A n.796G>A c.655G>A (p.Gly219Ser) c.-139G>A (n.-139G>A) c.310G>A (p.Gly104Ser) c.796G>A (p.Gly266Ser) | ClinVar |
8 | g.132174266A>C | CA372290097 | KCNQ3 | c.1017T>G (p.Ile339Met) c.657T>G (p.Ile219Met) c.690T>G (p.Ile230Met) c.667T>G n.795T>G c.654T>G (p.Ile218Met) c.-140T>G (n.-140T>G) c.309T>G (p.Ile103Met) c.795T>G (p.Ile265Met) | |
8 | g.132174266A>G | CA463070272 | KCNQ3 | c.1017T>C (p.Ile339=) c.657T>C (p.Ile219=) c.690T>C (p.Ile230=) c.667T>C n.795T>C c.654T>C (p.Ile218=) c.-140T>C (n.-140T>C) c.309T>C (p.Ile103=) c.795T>C (p.Ile265=) | gnomAD v4 |
8 | g.132174266A>T | CA463070273 | KCNQ3 | c.1017T>A (p.Ile339=) c.657T>A (p.Ile219=) c.690T>A (p.Ile230=) c.667T>A n.795T>A c.654T>A (p.Ile218=) c.-140T>A (n.-140T>A) c.309T>A (p.Ile103=) c.795T>A (p.Ile265=) | |
8 | g.132174267del | CA2782246804 | KCNQ3 | c.1017del (p.Ile339MetfsTer?) c.657del (p.Ile219MetfsTer?) c.690del (p.Ile230MetfsTer?) c.667del n.795del c.654del (p.Ile218MetfsTer?) c.-140del (n.-140del) c.309del (p.Ile103MetfsTer?) c.795del (p.Ile265MetfsTer?) | |
8 | g.132174267A= | CA1820664019 | KCNQ3 | c.1016T= (p.Ile339=) c.656T= (p.Ile219=) c.689T= (p.Ile230=) c.666T= n.794T= c.653T= (p.Ile218=) c.-141T= (n.-141T=) c.308T= (p.Ile103=) c.794T= (p.Ile265=) | |
8 | g.132174267A>C | CA372290098 | KCNQ3 | c.1016T>G (p.Ile339Ser) c.656T>G (p.Ile219Ser) c.689T>G (p.Ile230Ser) c.666T>G n.794T>G c.653T>G (p.Ile218Ser) c.-141T>G (n.-141T>G) c.308T>G (p.Ile103Ser) c.794T>G (p.Ile265Ser) | |
8 | g.132174267A>G | CA372290099 | KCNQ3 | c.1016T>C (p.Ile339Thr) c.656T>C (p.Ile219Thr) c.689T>C (p.Ile230Thr) c.666T>C n.794T>C c.653T>C (p.Ile218Thr) c.-141T>C (n.-141T>C) c.308T>C (p.Ile103Thr) c.794T>C (p.Ile265Thr) | ClinVar dbSNP |
8 | g.132174267A>T | CA372290100 | KCNQ3 | c.1016T>A (p.Ile339Asn) c.656T>A (p.Ile219Asn) c.689T>A (p.Ile230Asn) c.666T>A n.794T>A c.653T>A (p.Ile218Asn) c.-141T>A (n.-141T>A) c.308T>A (p.Ile103Asn) c.794T>A (p.Ile265Asn) | |
8 | g.132174268T>A | CA372290101 | KCNQ3 | c.1015A>T (p.Ile339Phe) c.655A>T (p.Ile219Phe) c.688A>T (p.Ile230Phe) c.665A>T n.793A>T c.652A>T (p.Ile218Phe) c.-142A>T (n.-142A>T) c.307A>T (p.Ile103Phe) c.793A>T (p.Ile265Phe) | |
8 | g.132174268T>C | CA372290102 | KCNQ3 | c.1015A>G (p.Ile339Val) c.655A>G (p.Ile219Val) c.688A>G (p.Ile230Val) c.665A>G n.793A>G c.652A>G (p.Ile218Val) c.-142A>G (n.-142A>G) c.307A>G (p.Ile103Val) c.793A>G (p.Ile265Val) | |
8 | g.132174268T>G | CA372290103 | KCNQ3 | c.1015A>C (p.Ile339Leu) c.655A>C (p.Ile219Leu) c.688A>C (p.Ile230Leu) c.665A>C n.793A>C c.652A>C (p.Ile218Leu) c.-142A>C (n.-142A>C) c.307A>C (p.Ile103Leu) c.793A>C (p.Ile265Leu) | gnomAD v4 |
8 | g.132174269T>A | CA372290104 | KCNQ3 | c.1014A>T (p.Leu338Phe) c.654A>T (p.Leu218Phe) c.687A>T (p.Leu229Phe) c.664A>T n.792A>T c.651A>T (p.Leu217Phe) c.-143A>T (n.-143A>T) c.306A>T (p.Leu102Phe) c.792A>T (p.Leu264Phe) | |
8 | g.132174269T>C | CA463070274 | KCNQ3 | c.1014A>G (p.Leu338=) c.654A>G (p.Leu218=) c.687A>G (p.Leu229=) c.664A>G n.792A>G c.651A>G (p.Leu217=) c.-143A>G (n.-143A>G) c.306A>G (p.Leu102=) c.792A>G (p.Leu264=) | |
8 | g.132174269T>G | CA372290105 | KCNQ3 | c.1014A>C (p.Leu338Phe) c.654A>C (p.Leu218Phe) c.687A>C (p.Leu229Phe) c.664A>C n.792A>C c.651A>C (p.Leu217Phe) c.-143A>C (n.-143A>C) c.306A>C (p.Leu102Phe) c.792A>C (p.Leu264Phe) | |
8 | g.132174270A= | CA1820664020 | KCNQ3 | c.1013T= (p.Leu338=) c.653T= (p.Leu218=) c.686T= (p.Leu229=) c.663T= n.791T= c.650T= (p.Leu217=) c.-144T= (n.-144T=) c.305T= (p.Leu102=) c.791T= (p.Leu264=) | |
8 | g.132174270A>C | CA372290107 | KCNQ3 | c.1013T>G (p.Leu338Ter) c.653T>G (p.Leu218Ter) c.686T>G (p.Leu229Ter) c.663T>G n.791T>G c.650T>G (p.Leu217Ter) c.-144T>G (n.-144T>G) c.305T>G (p.Leu102Ter) c.791T>G (p.Leu264Ter) | |
8 | g.132174270A>G | CA4880801 | KCNQ3 | c.1013T>C (p.Leu338Ser) c.653T>C (p.Leu218Ser) c.686T>C (p.Leu229Ser) c.663T>C n.791T>C c.650T>C (p.Leu217Ser) c.-144T>C (n.-144T>C) c.305T>C (p.Leu102Ser) c.791T>C (p.Leu264Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132174270A>T | CA372290106 | KCNQ3 | c.1013T>A (p.Leu338Ter) c.653T>A (p.Leu218Ter) c.686T>A (p.Leu229Ter) c.663T>A n.791T>A c.650T>A (p.Leu217Ter) c.-144T>A (n.-144T>A) c.305T>A (p.Leu102Ter) c.791T>A (p.Leu264Ter) | |
8 | g.132174271A>C | CA372290108 | KCNQ3 | c.1012T>G (p.Leu338Val) c.652T>G (p.Leu218Val) c.685T>G (p.Leu229Val) c.662T>G n.790T>G c.649T>G (p.Leu217Val) c.-145T>G (n.-145T>G) c.304T>G (p.Leu102Val) c.790T>G (p.Leu264Val) | |
8 | g.132174271A>G | CA463070275 | KCNQ3 | c.1012T>C (p.Leu338=) c.652T>C (p.Leu218=) c.685T>C (p.Leu229=) c.662T>C n.790T>C c.649T>C (p.Leu217=) c.-145T>C (n.-145T>C) c.304T>C (p.Leu102=) c.790T>C (p.Leu264=) | |
8 | g.132174271A>T | CA372290109 | KCNQ3 | c.1012T>A (p.Leu338Ile) c.652T>A (p.Leu218Ile) c.685T>A (p.Leu229Ile) c.662T>A n.790T>A c.649T>A (p.Leu217Ile) c.-145T>A (n.-145T>A) c.304T>A (p.Leu102Ile) c.790T>A (p.Leu264Ile) | |
8 | g.132174272G>A | CA463070277 | KCNQ3 | c.1011C>T (p.Ser337=) c.651C>T (p.Ser217=) c.684C>T (p.Ser228=) c.661C>T n.789C>T c.648C>T (p.Ser216=) c.-146C>T (n.-146C>T) c.303C>T (p.Ser101=) c.789C>T (p.Ser263=) | gnomAD v4 |
8 | g.132174272G>C | CA463070278 | KCNQ3 | c.1011C>G (p.Ser337=) c.651C>G (p.Ser217=) c.684C>G (p.Ser228=) c.661C>G n.789C>G c.648C>G (p.Ser216=) c.-146C>G (n.-146C>G) c.303C>G (p.Ser101=) c.789C>G (p.Ser263=) | |
8 | g.132174272G>T | CA463070276 | KCNQ3 | c.1011C>A (p.Ser337=) c.651C>A (p.Ser217=) c.684C>A (p.Ser228=) c.661C>A n.789C>A c.648C>A (p.Ser216=) c.-146C>A (n.-146C>A) c.303C>A (p.Ser101=) c.789C>A (p.Ser263=) | gnomAD v4 |
8 | g.132174273G>A | CA372290110 | KCNQ3 | c.1010C>T (p.Ser337Phe) c.650C>T (p.Ser217Phe) c.683C>T (p.Ser228Phe) c.660C>T n.788C>T c.647C>T (p.Ser216Phe) c.-147C>T (n.-147C>T) c.302C>T (p.Ser101Phe) c.788C>T (p.Ser263Phe) | COSMIC |
8 | g.132174273G>C | CA372290111 | KCNQ3 | c.1010C>G (p.Ser337Cys) c.650C>G (p.Ser217Cys) c.683C>G (p.Ser228Cys) c.660C>G n.788C>G c.647C>G (p.Ser216Cys) c.-147C>G (n.-147C>G) c.302C>G (p.Ser101Cys) c.788C>G (p.Ser263Cys) | |
8 | g.132174273G>T | CA372290112 | KCNQ3 | c.1010C>A (p.Ser337Tyr) c.650C>A (p.Ser217Tyr) c.683C>A (p.Ser228Tyr) c.660C>A n.788C>A c.647C>A (p.Ser216Tyr) c.-147C>A (n.-147C>A) c.302C>A (p.Ser101Tyr) c.788C>A (p.Ser263Tyr) | |
8 | g.132174273_132174274delinsGA | CA1820664021 | KCNQ3 | c.1009_1010delinsTC (p.Ser337=) c.649_650delinsTC (p.Ser217=) c.682_683delinsTC (p.Ser228=) c.659_660delinsTC n.787_788delinsTC c.646_647delinsTC (p.Ser216=) c.-148_-147delinsTC (n.-148_-147delinsTC) c.301_302delinsTC (p.Ser101=) c.787_788delinsTC (p.Ser263=) | |
8 | g.132174274A>C | CA372290115 | KCNQ3 | c.1009T>G (p.Ser337Ala) c.649T>G (p.Ser217Ala) c.682T>G (p.Ser228Ala) c.659T>G n.787T>G c.646T>G (p.Ser216Ala) c.-148T>G (n.-148T>G) c.301T>G (p.Ser101Ala) c.787T>G (p.Ser263Ala) | |
8 | g.132174274A>G | CA372290114 | KCNQ3 | c.1009T>C (p.Ser337Pro) c.649T>C (p.Ser217Pro) c.682T>C (p.Ser228Pro) c.659T>C n.787T>C c.646T>C (p.Ser216Pro) c.-148T>C (n.-148T>C) c.301T>C (p.Ser101Pro) c.787T>C (p.Ser263Pro) | |
8 | g.132174274A>T | CA372290113 | KCNQ3 | c.1009T>A (p.Ser337Thr) c.649T>A (p.Ser217Thr) c.682T>A (p.Ser228Thr) c.659T>A n.787T>A c.646T>A (p.Ser216Thr) c.-148T>A (n.-148T>A) c.301T>A (p.Ser101Thr) c.787T>A (p.Ser263Thr) | |
8 | g.132174277del | CA186223372 | KCNQ3 | c.1009del (p.Ser337ProfsTer2) c.649del (p.Ser217ProfsTer2) c.682del (p.Ser228ProfsTer2) c.659del n.787del c.646del (p.Ser216ProfsTer2) c.-148del (n.-148del) c.301del (p.Ser101ProfsTer2) c.787del (p.Ser263ProfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.132174275A>C | CA372290116 | KCNQ3 | c.1008T>G (p.Phe336Leu) c.648T>G (p.Phe216Leu) c.681T>G (p.Phe227Leu) c.658T>G n.786T>G c.645T>G (p.Phe215Leu) c.-149T>G (n.-149T>G) c.300T>G (p.Phe100Leu) c.786T>G (p.Phe262Leu) | |
8 | g.132174275A>G | CA463070279 | KCNQ3 | c.1008T>C (p.Phe336=) c.648T>C (p.Phe216=) c.681T>C (p.Phe227=) c.658T>C n.786T>C c.645T>C (p.Phe215=) c.-149T>C (n.-149T>C) c.300T>C (p.Phe100=) c.786T>C (p.Phe262=) | |
8 | g.132174275A>T | CA372290117 | KCNQ3 | c.1008T>A (p.Phe336Leu) c.648T>A (p.Phe216Leu) c.681T>A (p.Phe227Leu) c.658T>A n.786T>A c.645T>A (p.Phe215Leu) c.-149T>A (n.-149T>A) c.300T>A (p.Phe100Leu) c.786T>A (p.Phe262Leu) | |
8 | g.132174276A>C | CA372290118 | KCNQ3 | c.1007T>G (p.Phe336Cys) c.647T>G (p.Phe216Cys) c.680T>G (p.Phe227Cys) c.657T>G n.785T>G c.644T>G (p.Phe215Cys) c.-150T>G (n.-150T>G) c.299T>G (p.Phe100Cys) c.785T>G (p.Phe262Cys) | |
8 | g.132174276A>G | CA372290119 | KCNQ3 | c.1007T>C (p.Phe336Ser) c.647T>C (p.Phe216Ser) c.680T>C (p.Phe227Ser) c.657T>C n.785T>C c.644T>C (p.Phe215Ser) c.-150T>C (n.-150T>C) c.299T>C (p.Phe100Ser) c.785T>C (p.Phe262Ser) | gnomAD v4 |
8 | g.132174276A>T | CA372290120 | KCNQ3 | c.1007T>A (p.Phe336Tyr) c.647T>A (p.Phe216Tyr) c.680T>A (p.Phe227Tyr) c.657T>A n.785T>A c.644T>A (p.Phe215Tyr) c.-150T>A (n.-150T>A) c.299T>A (p.Phe100Tyr) c.785T>A (p.Phe262Tyr) | |
8 | g.132174277A>C | CA372290123 | KCNQ3 | c.1006T>G (p.Phe336Val) c.646T>G (p.Phe216Val) c.679T>G (p.Phe227Val) c.656T>G n.784T>G c.643T>G (p.Phe215Val) c.-151T>G (n.-151T>G) c.298T>G (p.Phe100Val) c.784T>G (p.Phe262Val) | gnomAD v4 |
8 | g.132174277A>G | CA372290122 | KCNQ3 | c.1006T>C (p.Phe336Leu) c.646T>C (p.Phe216Leu) c.679T>C (p.Phe227Leu) c.656T>C n.784T>C c.643T>C (p.Phe215Leu) c.-151T>C (n.-151T>C) c.298T>C (p.Phe100Leu) c.784T>C (p.Phe262Leu) | gnomAD v4 |
8 | g.132174277A>T | CA372290121 | KCNQ3 | c.1006T>A (p.Phe336Ile) c.646T>A (p.Phe216Ile) c.679T>A (p.Phe227Ile) c.656T>A n.784T>A c.643T>A (p.Phe215Ile) c.-151T>A (n.-151T>A) c.298T>A (p.Phe100Ile) c.784T>A (p.Phe262Ile) | |
8 | g.132174278G>A | CA463070280 | KCNQ3 | c.1005C>T (p.Thr335=) c.645C>T (p.Thr215=) c.678C>T (p.Thr226=) c.655C>T n.783C>T c.642C>T (p.Thr214=) c.-152C>T (n.-152C>T) c.297C>T (p.Thr99=) c.783C>T (p.Thr261=) | ClinVar gnomAD v4 |
8 | g.132174278G>C | CA463070281 | KCNQ3 | c.1005C>G (p.Thr335=) c.645C>G (p.Thr215=) c.678C>G (p.Thr226=) c.655C>G n.783C>G c.642C>G (p.Thr214=) c.-152C>G (n.-152C>G) c.297C>G (p.Thr99=) c.783C>G (p.Thr261=) | dbSNP |
8 | g.132174278G= | CA1820664022 | KCNQ3 | c.1005C= (p.Thr335=) c.645C= (p.Thr215=) c.678C= (p.Thr226=) c.655C= n.783C= c.642C= (p.Thr214=) c.-152C= (n.-152C=) c.297C= (p.Thr99=) c.783C= (p.Thr261=) | |
8 | g.132174278G>T | CA4880802 | KCNQ3 | c.1005C>A (p.Thr335=) c.645C>A (p.Thr215=) c.678C>A (p.Thr226=) c.655C>A n.783C>A c.642C>A (p.Thr214=) c.-152C>A (n.-152C>A) c.297C>A (p.Thr99=) c.783C>A (p.Thr261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132174279G>A | CA372290124 | KCNQ3 | c.1004C>T (p.Thr335Ile) c.644C>T (p.Thr215Ile) c.677C>T (p.Thr226Ile) c.654C>T n.782C>T c.641C>T (p.Thr214Ile) c.-153C>T (n.-153C>T) c.296C>T (p.Thr99Ile) c.782C>T (p.Thr261Ile) | COSMIC |
8 | g.132174279G>C | CA372290126 | KCNQ3 | c.1004C>G (p.Thr335Ser) c.644C>G (p.Thr215Ser) c.677C>G (p.Thr226Ser) c.654C>G n.782C>G c.641C>G (p.Thr214Ser) c.-153C>G (n.-153C>G) c.296C>G (p.Thr99Ser) c.782C>G (p.Thr261Ser) | gnomAD v4 |
8 | g.132174279G>T | CA372290125 | KCNQ3 | c.1004C>A (p.Thr335Asn) c.644C>A (p.Thr215Asn) c.677C>A (p.Thr226Asn) c.654C>A n.782C>A c.641C>A (p.Thr214Asn) c.-153C>A (n.-153C>A) c.296C>A (p.Thr99Asn) c.782C>A (p.Thr261Asn) | gnomAD v4 |
8 | g.132174280T>A | CA372290127 | KCNQ3 | c.1003A>T (p.Thr335Ser) c.643A>T (p.Thr215Ser) c.676A>T (p.Thr226Ser) c.653A>T n.781A>T c.640A>T (p.Thr214Ser) c.-154A>T (n.-154A>T) c.295A>T (p.Thr99Ser) c.781A>T (p.Thr261Ser) | |
8 | g.132174280T>C | CA372290129 | KCNQ3 | c.1003A>G (p.Thr335Ala) c.643A>G (p.Thr215Ala) c.676A>G (p.Thr226Ala) c.653A>G n.781A>G c.640A>G (p.Thr214Ala) c.-154A>G (n.-154A>G) c.295A>G (p.Thr99Ala) c.781A>G (p.Thr261Ala) | |
8 | g.132174280T>G | CA372290128 | KCNQ3 | c.1003A>C (p.Thr335Pro) c.643A>C (p.Thr215Pro) c.676A>C (p.Thr226Pro) c.653A>C n.781A>C c.640A>C (p.Thr214Pro) c.-154A>C (n.-154A>C) c.295A>C (p.Thr99Pro) c.781A>C (p.Thr261Pro) | gnomAD v4 |
8 | g.132174281G>A | CA463070284 | KCNQ3 | c.1002C>T (p.Ala334=) c.642C>T (p.Ala214=) c.675C>T (p.Ala225=) c.652C>T n.780C>T c.639C>T (p.Ala213=) c.-155C>T (n.-155C>T) c.294C>T (p.Ala98=) c.780C>T (p.Ala260=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132174281G>C | CA463070283 | KCNQ3 | c.1002C>G (p.Ala334=) c.642C>G (p.Ala214=) c.675C>G (p.Ala225=) c.652C>G n.780C>G c.639C>G (p.Ala213=) c.-155C>G (n.-155C>G) c.294C>G (p.Ala98=) c.780C>G (p.Ala260=) | |
8 | g.132174281G= | CA1820664023 | KCNQ3 | c.1002C= (p.Ala334=) c.642C= (p.Ala214=) c.675C= (p.Ala225=) c.652C= n.780C= c.639C= (p.Ala213=) c.-155C= (n.-155C=) c.294C= (p.Ala98=) c.780C= (p.Ala260=) | |
8 | g.132174281G>T | CA463070282 | KCNQ3 | c.1002C>A (p.Ala334=) c.642C>A (p.Ala214=) c.675C>A (p.Ala225=) c.652C>A n.780C>A c.639C>A (p.Ala213=) c.-155C>A (n.-155C>A) c.294C>A (p.Ala98=) c.780C>A (p.Ala260=) | gnomAD v4 |
8 | g.132174282G>A | CA372290130 | KCNQ3 | c.1001C>T (p.Ala334Val) c.641C>T (p.Ala214Val) c.674C>T (p.Ala225Val) c.651C>T n.779C>T c.638C>T (p.Ala213Val) c.-156C>T (n.-156C>T) c.293C>T (p.Ala98Val) c.779C>T (p.Ala260Val) | |
8 | g.132174282G>C | CA372290131 | KCNQ3 | c.1001C>G (p.Ala334Gly) c.641C>G (p.Ala214Gly) c.674C>G (p.Ala225Gly) c.651C>G n.779C>G c.638C>G (p.Ala213Gly) c.-156C>G (n.-156C>G) c.293C>G (p.Ala98Gly) c.779C>G (p.Ala260Gly) | |
8 | g.132174282G>T | CA372290132 | KCNQ3 | c.1001C>A (p.Ala334Asp) c.641C>A (p.Ala214Asp) c.674C>A (p.Ala225Asp) c.651C>A n.779C>A c.638C>A (p.Ala213Asp) c.-156C>A (n.-156C>A) c.293C>A (p.Ala98Asp) c.779C>A (p.Ala260Asp) | |
8 | g.132174283C>A | CA372290133 | KCNQ3 | c.1000G>T (p.Ala334Ser) c.640G>T (p.Ala214Ser) c.673G>T (p.Ala225Ser) c.650G>T n.778G>T c.637G>T (p.Ala213Ser) c.-157G>T (n.-157G>T) c.292G>T (p.Ala98Ser) c.778G>T (p.Ala260Ser) | gnomAD v4 |
8 | g.132174283C= | CA1820664024 | KCNQ3 | c.1000G= (p.Ala334=) c.640G= (p.Ala214=) c.673G= (p.Ala225=) c.650G= n.778G= c.637G= (p.Ala213=) c.-157G= (n.-157G=) c.292G= (p.Ala98=) c.778G= (p.Ala260=) | |
8 | g.132174283C>G | CA372290134 | KCNQ3 | c.1000G>C (p.Ala334Pro) c.640G>C (p.Ala214Pro) c.673G>C (p.Ala225Pro) c.650G>C n.778G>C c.637G>C (p.Ala213Pro) c.-157G>C (n.-157G>C) c.292G>C (p.Ala98Pro) c.778G>C (p.Ala260Pro) | |
8 | g.132174283C>T | CA372290135 | KCNQ3 | c.1000G>A (p.Ala334Thr) c.640G>A (p.Ala214Thr) c.673G>A (p.Ala225Thr) c.650G>A n.778G>A c.637G>A (p.Ala213Thr) c.-157G>A (n.-157G>A) c.292G>A (p.Ala98Thr) c.778G>A (p.Ala260Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.132174284G>A | CA4880803 | KCNQ3 | c.999C>T (p.Ala333=) c.639C>T (p.Ala213=) c.672C>T (p.Ala224=) c.649C>T n.777C>T c.636C>T (p.Ala212=) c.-158C>T (n.-158C>T) c.291C>T (p.Ala97=) c.777C>T (p.Ala259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.132174284G>C | CA463070286 | KCNQ3 | c.999C>G (p.Ala333=) c.639C>G (p.Ala213=) c.672C>G (p.Ala224=) c.649C>G n.777C>G c.636C>G (p.Ala212=) c.-158C>G (n.-158C>G) c.291C>G (p.Ala97=) c.777C>G (p.Ala259=) | |
8 | g.132174284G= | CA1820664025 | KCNQ3 | c.999C= (p.Ala333=) c.639C= (p.Ala213=) c.672C= (p.Ala224=) c.649C= n.777C= c.636C= (p.Ala212=) c.-158C= (n.-158C=) c.291C= (p.Ala97=) c.777C= (p.Ala259=) | |
8 | g.132174284G>T | CA463070285 | KCNQ3 | c.999C>A (p.Ala333=) c.639C>A (p.Ala213=) c.672C>A (p.Ala224=) c.649C>A n.777C>A c.636C>A (p.Ala212=) c.-158C>A (n.-158C>A) c.291C>A (p.Ala97=) c.777C>A (p.Ala259=) | gnomAD v4 |
8 | g.132174285G>A | CA372290136 | KCNQ3 | c.998C>T (p.Ala333Val) c.638C>T (p.Ala213Val) c.671C>T (p.Ala224Val) c.648C>T n.776C>T c.635C>T (p.Ala212Val) c.-159C>T (n.-159C>T) c.290C>T (p.Ala97Val) c.776C>T (p.Ala259Val) | gnomAD v4 |
8 | g.132174285G>C | CA372290137 | KCNQ3 | c.998C>G (p.Ala333Gly) c.638C>G (p.Ala213Gly) c.671C>G (p.Ala224Gly) c.648C>G n.776C>G c.635C>G (p.Ala212Gly) c.-159C>G (n.-159C>G) c.290C>G (p.Ala97Gly) c.776C>G (p.Ala259Gly) | |
8 | g.132174285G>T | CA372290138 | KCNQ3 | c.998C>A (p.Ala333Asp) c.638C>A (p.Ala213Asp) c.671C>A (p.Ala224Asp) c.648C>A n.776C>A c.635C>A (p.Ala212Asp) c.-159C>A (n.-159C>A) c.290C>A (p.Ala97Asp) c.776C>A (p.Ala259Asp) | gnomAD v4 |
8 | g.132174286C>A | CA372290139 | KCNQ3 | c.997G>T (p.Ala333Ser) c.637G>T (p.Ala213Ser) c.670G>T (p.Ala224Ser) c.647G>T n.775G>T c.634G>T (p.Ala212Ser) c.-160G>T (n.-160G>T) c.289G>T (p.Ala97Ser) c.775G>T (p.Ala259Ser) | gnomAD v4 |
8 | g.132174286C= | CA1820664026 | KCNQ3 | c.997G= (p.Ala333=) c.637G= (p.Ala213=) c.670G= (p.Ala224=) c.647G= n.775G= c.634G= (p.Ala212=) c.-160G= (n.-160G=) c.289G= (p.Ala97=) c.775G= (p.Ala259=) | |
8 | g.132174286C>G | CA16621869 | KCNQ3 | c.997G>C (p.Ala333Pro) c.637G>C (p.Ala213Pro) c.670G>C (p.Ala224Pro) c.647G>C n.775G>C c.634G>C (p.Ala212Pro) c.-160G>C (n.-160G>C) c.289G>C (p.Ala97Pro) c.775G>C (p.Ala259Pro) | ClinVar dbSNP gnomAD v4 |
8 | g.132174286C>T | CA372290140 | KCNQ3 | c.997G>A (p.Ala333Thr) c.637G>A (p.Ala213Thr) c.670G>A (p.Ala224Thr) c.647G>A n.775G>A c.634G>A (p.Ala212Thr) c.-160G>A (n.-160G>A) c.289G>A (p.Ala97Thr) c.775G>A (p.Ala259Thr) | |
8 | g.132174287A>C | CA372290141 | KCNQ3 | c.996T>G (p.Ile332Met) c.636T>G (p.Ile212Met) c.669T>G (p.Ile223Met) c.646T>G n.774T>G c.633T>G (p.Ile211Met) c.-161T>G (n.-161T>G) c.288T>G (p.Ile96Met) c.774T>G (p.Ile258Met) | |
8 | g.132174287A>G | CA463070287 | KCNQ3 | c.996T>C (p.Ile332=) c.636T>C (p.Ile212=) c.669T>C (p.Ile223=) c.646T>C n.774T>C c.633T>C (p.Ile211=) c.-161T>C (n.-161T>C) c.288T>C (p.Ile96=) c.774T>C (p.Ile258=) | gnomAD v4 |
8 | g.132174287A>T | CA463070288 | KCNQ3 | c.996T>A (p.Ile332=) c.636T>A (p.Ile212=) c.669T>A (p.Ile223=) c.646T>A n.774T>A c.633T>A (p.Ile211=) c.-161T>A (n.-161T>A) c.288T>A (p.Ile96=) c.774T>A (p.Ile258=) | |
8 | g.132174288A>C | CA372290142 | KCNQ3 | c.995T>G (p.Ile332Ser) c.635T>G (p.Ile212Ser) c.668T>G (p.Ile223Ser) c.645T>G n.773T>G c.632T>G (p.Ile211Ser) c.-162T>G (n.-162T>G) c.287T>G (p.Ile96Ser) c.773T>G (p.Ile258Ser) | |
8 | g.132174288A>G | CA372290143 | KCNQ3 | c.995T>C (p.Ile332Thr) c.635T>C (p.Ile212Thr) c.668T>C (p.Ile223Thr) c.645T>C n.773T>C c.632T>C (p.Ile211Thr) c.-162T>C (n.-162T>C) c.287T>C (p.Ile96Thr) c.773T>C (p.Ile258Thr) | gnomAD v4 |
8 | g.132174288A>T | CA372290144 | KCNQ3 | c.995T>A (p.Ile332Asn) c.635T>A (p.Ile212Asn) c.668T>A (p.Ile223Asn) c.645T>A n.773T>A c.632T>A (p.Ile211Asn) c.-162T>A (n.-162T>A) c.287T>A (p.Ile96Asn) c.773T>A (p.Ile258Asn) | |
8 | g.132174289T>A | CA372290145 | KCNQ3 | c.994A>T (p.Ile332Phe) c.634A>T (p.Ile212Phe) c.667A>T (p.Ile223Phe) c.644A>T n.772A>T c.631A>T (p.Ile211Phe) c.-163A>T (n.-163A>T) c.286A>T (p.Ile96Phe) c.772A>T (p.Ile258Phe) | ClinVar dbSNP |
8 | g.132174289T>C | CA372290146 | KCNQ3 | c.994A>G (p.Ile332Val) c.634A>G (p.Ile212Val) c.667A>G (p.Ile223Val) c.644A>G n.772A>G c.631A>G (p.Ile211Val) c.-163A>G (n.-163A>G) c.286A>G (p.Ile96Val) c.772A>G (p.Ile258Val) | |
8 | g.132174289T>G | CA372290147 | KCNQ3 | c.994A>C (p.Ile332Leu) c.634A>C (p.Ile212Leu) c.667A>C (p.Ile223Leu) c.644A>C n.772A>C c.631A>C (p.Ile211Leu) c.-163A>C (n.-163A>C) c.286A>C (p.Ile96Leu) c.772A>C (p.Ile258Leu) | |
8 | g.132174289T= | CA1820664027 | KCNQ3 | c.994A= (p.Ile332=) c.634A= (p.Ile212=) c.667A= (p.Ile223=) c.644A= n.772A= c.631A= (p.Ile211=) c.-163A= (n.-163A=) c.286A= (p.Ile96=) c.772A= (p.Ile258=) | |
8 | g.132174290C>A | CA463070289 | KCNQ3 | c.993G>T (p.Leu331=) c.633G>T (p.Leu211=) c.666G>T (p.Leu222=) c.643G>T n.771G>T c.630G>T (p.Leu210=) c.-164G>T (n.-164G>T) c.285G>T (p.Leu95=) c.771G>T (p.Leu257=) | gnomAD v4 |
8 | g.132174290C>G | CA463070290 | KCNQ3 | c.993G>C (p.Leu331=) c.633G>C (p.Leu211=) c.666G>C (p.Leu222=) c.643G>C n.771G>C c.630G>C (p.Leu210=) c.-164G>C (n.-164G>C) c.285G>C (p.Leu95=) c.771G>C (p.Leu257=) | gnomAD v4 |
8 | g.132174290C>T | CA463070291 | KCNQ3 | c.993G>A (p.Leu331=) c.633G>A (p.Leu211=) c.666G>A (p.Leu222=) c.643G>A n.771G>A c.630G>A (p.Leu210=) c.-164G>A (n.-164G>A) c.285G>A (p.Leu95=) c.771G>A (p.Leu257=) | gnomAD v4 |
8 | g.132174291A= | CA1820664028 | KCNQ3 | c.992T= (p.Leu331=) c.632T= (p.Leu211=) c.665T= (p.Leu222=) c.642T= n.770T= c.629T= (p.Leu210=) c.-165T= (n.-165T=) c.284T= (p.Leu95=) c.770T= (p.Leu257=) | |
8 | g.132174291A>C | CA372290148 | KCNQ3 | c.992T>G (p.Leu331Arg) c.632T>G (p.Leu211Arg) c.665T>G (p.Leu222Arg) c.642T>G n.770T>G c.629T>G (p.Leu210Arg) c.-165T>G (n.-165T>G) c.284T>G (p.Leu95Arg) c.770T>G (p.Leu257Arg) | |
8 | g.132174291A>G | CA372290149 | KCNQ3 | c.992T>C (p.Leu331Pro) c.632T>C (p.Leu211Pro) c.665T>C (p.Leu222Pro) c.642T>C n.770T>C c.629T>C (p.Leu210Pro) c.-165T>C (n.-165T>C) c.284T>C (p.Leu95Pro) c.770T>C (p.Leu257Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.132174291A>T | CA372290150 | KCNQ3 | c.992T>A (p.Leu331Gln) c.632T>A (p.Leu211Gln) c.665T>A (p.Leu222Gln) c.642T>A n.770T>A c.629T>A (p.Leu210Gln) c.-165T>A (n.-165T>A) c.284T>A (p.Leu95Gln) c.770T>A (p.Leu257Gln) | |
8 | g.132174292G>A | CA463070292 | KCNQ3 | c.991C>T (p.Leu331=) c.631C>T (p.Leu211=) c.664C>T (p.Leu222=) c.641C>T n.769C>T c.628C>T (p.Leu210=) c.-166C>T (n.-166C>T) c.283C>T (p.Leu95=) c.769C>T (p.Leu257=) | |
8 | g.132174292G>C | CA372290151 | KCNQ3 | c.991C>G (p.Leu331Val) c.631C>G (p.Leu211Val) c.664C>G (p.Leu222Val) c.641C>G n.769C>G c.628C>G (p.Leu210Val) c.-166C>G (n.-166C>G) c.283C>G (p.Leu95Val) c.769C>G (p.Leu257Val) | |
8 | g.132174292G>T | CA372290152 | KCNQ3 | c.991C>A (p.Leu331Met) c.631C>A (p.Leu211Met) c.664C>A (p.Leu222Met) c.641C>A n.769C>A c.628C>A (p.Leu210Met) c.-166C>A (n.-166C>A) c.283C>A (p.Leu95Met) c.769C>A (p.Leu257Met) | gnomAD v4 |
8 | g.132174293A>C | CA463070293 | KCNQ3 | c.990T>G (p.Arg330=) c.630T>G (p.Arg210=) c.663T>G (p.Arg221=) c.640T>G n.768T>G c.627T>G (p.Arg209=) c.-167T>G (n.-167T>G) c.282T>G (p.Arg94=) c.768T>G (p.Arg256=) | |
8 | g.132174293A>G | CA463070294 | KCNQ3 | c.990T>C (p.Arg330=) c.630T>C (p.Arg210=) c.663T>C (p.Arg221=) c.640T>C n.768T>C c.627T>C (p.Arg209=) c.-167T>C (n.-167T>C) c.282T>C (p.Arg94=) c.768T>C (p.Arg256=) | |
8 | g.132174293A>T | CA463070295 | KCNQ3 | c.990T>A (p.Arg330=) c.630T>A (p.Arg210=) c.663T>A (p.Arg221=) c.640T>A n.768T>A c.627T>A (p.Arg209=) c.-167T>A (n.-167T>A) c.282T>A (p.Arg94=) c.768T>A (p.Arg256=) | |
8 | g.132174294C>A | CA372290155 | KCNQ3 | c.989G>T (p.Arg330Leu) c.629G>T (p.Arg210Leu) c.662G>T (p.Arg221Leu) c.639G>T n.767G>T c.626G>T (p.Arg209Leu) c.-168G>T (n.-168G>T) c.281G>T (p.Arg94Leu) c.767G>T (p.Arg256Leu) | ClinVar dbSNP |
8 | g.132174294C= | CA1820664029 | KCNQ3 | c.989G= (p.Arg330=) c.629G= (p.Arg210=) c.662G= (p.Arg221=) c.639G= n.767G= c.626G= (p.Arg209=) c.-168G= (n.-168G=) c.281G= (p.Arg94=) c.767G= (p.Arg256=) | |
8 | g.132174294C>G | CA372290154 | KCNQ3 | c.989G>C (p.Arg330Pro) c.629G>C (p.Arg210Pro) c.662G>C (p.Arg221Pro) c.639G>C n.767G>C c.626G>C (p.Arg209Pro) c.-168G>C (n.-168G>C) c.281G>C (p.Arg94Pro) c.767G>C (p.Arg256Pro) | gnomAD v4 |
8 | g.132174294C>T | CA372290153 | KCNQ3 | c.989G>A (p.Arg330His) c.629G>A (p.Arg210His) c.662G>A (p.Arg221His) c.639G>A n.767G>A c.626G>A (p.Arg209His) c.-168G>A (n.-168G>A) c.281G>A (p.Arg94His) c.767G>A (p.Arg256His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.132174295G>A | CA342043 | KCNQ3 | c.988C>T (p.Arg330Cys) c.628C>T (p.Arg210Cys) c.661C>T (p.Arg221Cys) c.638C>T n.766C>T c.625C>T (p.Arg209Cys) c.-169C>T (n.-169C>T) c.280C>T (p.Arg94Cys) c.766C>T (p.Arg256Cys) | ClinVar dbSNP gnomAD v4 |
8 | g.132174295G>C | CA372290156 | KCNQ3 | c.988C>G (p.Arg330Gly) c.628C>G (p.Arg210Gly) c.661C>G (p.Arg221Gly) c.638C>G n.766C>G c.625C>G (p.Arg209Gly) c.-169C>G (n.-169C>G) c.280C>G (p.Arg94Gly) c.766C>G (p.Arg256Gly) | |
8 | g.132174295G= | CA1820664030 | KCNQ3 | c.988C= (p.Arg330=) c.628C= (p.Arg210=) c.661C= (p.Arg221=) c.638C= n.766C= c.625C= (p.Arg209=) c.-169C= (n.-169C=) c.280C= (p.Arg94=) c.766C= (p.Arg256=) | |
8 | g.132174295G>T | CA372290157 | KCNQ3 | c.988C>A (p.Arg330Ser) c.628C>A (p.Arg210Ser) c.661C>A (p.Arg221Ser) c.638C>A n.766C>A c.625C>A (p.Arg209Ser) c.-169C>A (n.-169C>A) c.280C>A (p.Arg94Ser) c.766C>A (p.Arg256Ser) | gnomAD v4 |
8 | g.132174296G>A | CA463070296 | KCNQ3 | c.987C>T (p.Gly329=) c.627C>T (p.Gly209=) c.660C>T (p.Gly220=) c.637C>T n.765C>T c.624C>T (p.Gly208=) c.-170C>T (n.-170C>T) c.279C>T (p.Gly93=) c.765C>T (p.Gly255=) | gnomAD v4 |
8 | g.132174296G>C | CA463070297 | KCNQ3 | c.987C>G (p.Gly329=) c.627C>G (p.Gly209=) c.660C>G (p.Gly220=) c.637C>G n.765C>G c.624C>G (p.Gly208=) c.-170C>G (n.-170C>G) c.279C>G (p.Gly93=) c.765C>G (p.Gly255=) | |
8 | g.132174296G>T | CA463070298 | KCNQ3 | c.987C>A (p.Gly329=) c.627C>A (p.Gly209=) c.660C>A (p.Gly220=) c.637C>A n.765C>A c.624C>A (p.Gly208=) c.-170C>A (n.-170C>A) c.279C>A (p.Gly93=) c.765C>A (p.Gly255=) | gnomAD v4 |
8 | g.132174297C>A | CA372290158 | KCNQ3 | c.986G>T (p.Gly329Val) c.626G>T (p.Gly209Val) c.659G>T (p.Gly220Val) c.636G>T n.764G>T c.623G>T (p.Gly208Val) c.-171G>T (n.-171G>T) c.278G>T (p.Gly93Val) c.764G>T (p.Gly255Val) | gnomAD v4 |
8 | g.132174297C>G | CA372290159 | KCNQ3 | c.986G>C (p.Gly329Ala) c.626G>C (p.Gly209Ala) c.659G>C (p.Gly220Ala) c.636G>C n.764G>C c.623G>C (p.Gly208Ala) c.-171G>C (n.-171G>C) c.278G>C (p.Gly93Ala) c.764G>C (p.Gly255Ala) | |
8 | g.132174297C>T | CA372290160 | KCNQ3 | c.986G>A (p.Gly329Asp) c.626G>A (p.Gly209Asp) c.659G>A (p.Gly220Asp) c.636G>A n.764G>A c.623G>A (p.Gly208Asp) c.-171G>A (n.-171G>A) c.278G>A (p.Gly93Asp) c.764G>A (p.Gly255Asp) | gnomAD v4 |
8 | g.132174298C>A | CA372290163 | KCNQ3 | c.985G>T (p.Gly329Cys) c.625G>T (p.Gly209Cys) c.658G>T (p.Gly220Cys) c.635G>T n.763G>T c.622G>T (p.Gly208Cys) c.-172G>T (n.-172G>T) c.277G>T (p.Gly93Cys) c.763G>T (p.Gly255Cys) | gnomAD v4 |
8 | g.132174298C= | CA1820664031 | KCNQ3 | c.985G= (p.Gly329=) c.625G= (p.Gly209=) c.658G= (p.Gly220=) c.635G= n.763G= c.622G= (p.Gly208=) c.-172G= (n.-172G=) c.277G= (p.Gly93=) c.763G= (p.Gly255=) | |
8 | g.132174298C>G | CA372290161 | KCNQ3 | c.985G>C (p.Gly329Arg) c.625G>C (p.Gly209Arg) c.658G>C (p.Gly220Arg) c.635G>C n.763G>C c.622G>C (p.Gly208Arg) c.-172G>C (n.-172G>C) c.277G>C (p.Gly93Arg) c.763G>C (p.Gly255Arg) | |
8 | g.132174298C>T | CA372290162 | KCNQ3 | c.985G>A (p.Gly329Ser) c.625G>A (p.Gly209Ser) c.658G>A (p.Gly220Ser) c.635G>A n.763G>A c.622G>A (p.Gly208Ser) c.-172G>A (n.-172G>A) c.277G>A (p.Gly93Ser) c.763G>A (p.Gly255Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.132174299T>A | CA372290164 | KCNQ3 | c.984A>T (p.Glu328Asp) c.624A>T (p.Glu208Asp) c.657A>T (p.Glu219Asp) c.634A>T n.762A>T c.621A>T (p.Glu207Asp) c.-173A>T (n.-173A>T) c.276A>T (p.Glu92Asp) c.762A>T (p.Glu254Asp) | |
8 | g.132174299T>C | CA463070299 | KCNQ3 | c.984A>G (p.Glu328=) c.624A>G (p.Glu208=) c.657A>G (p.Glu219=) c.634A>G n.762A>G c.621A>G (p.Glu207=) c.-173A>G (n.-173A>G) c.276A>G (p.Glu92=) c.762A>G (p.Glu254=) | |
8 | g.132174299T>G | CA372290165 | KCNQ3 | c.984A>C (p.Glu328Asp) c.624A>C (p.Glu208Asp) c.657A>C (p.Glu219Asp) c.634A>C n.762A>C c.621A>C (p.Glu207Asp) c.-173A>C (n.-173A>C) c.276A>C (p.Glu92Asp) c.762A>C (p.Glu254Asp) | |
8 | g.132174300T>A | CA372290166 | KCNQ3 | c.983A>T (p.Glu328Val) c.623A>T (p.Glu208Val) c.656A>T (p.Glu219Val) c.633A>T n.761A>T c.620A>T (p.Glu207Val) c.-174A>T (n.-174A>T) c.275A>T (p.Glu92Val) c.761A>T (p.Glu254Val) | |
8 | g.132174300T>C | CA372290167 | KCNQ3 | c.983A>G (p.Glu328Gly) c.623A>G (p.Glu208Gly) c.656A>G (p.Glu219Gly) c.633A>G n.761A>G c.620A>G (p.Glu207Gly) c.-174A>G (n.-174A>G) c.275A>G (p.Glu92Gly) c.761A>G (p.Glu254Gly) | gnomAD v4 |
8 | g.132174300T>G | CA372290168 | KCNQ3 | c.983A>C (p.Glu328Ala) c.623A>C (p.Glu208Ala) c.656A>C (p.Glu219Ala) c.633A>C n.761A>C c.620A>C (p.Glu207Ala) c.-174A>C (n.-174A>C) c.275A>C (p.Glu92Ala) c.761A>C (p.Glu254Ala) | |
8 | g.132174301C>A | CA372290169 | KCNQ3 | c.982G>T (p.Glu328Ter) c.622G>T (p.Glu208Ter) c.655G>T (p.Glu219Ter) c.632G>T n.760G>T c.619G>T (p.Glu207Ter) c.-175G>T (n.-175G>T) c.274G>T (p.Glu92Ter) c.760G>T (p.Glu254Ter) | gnomAD v4 |
8 | g.132174301C>G | CA372290171 | KCNQ3 | c.982G>C (p.Glu328Gln) c.622G>C (p.Glu208Gln) c.655G>C (p.Glu219Gln) c.632G>C n.760G>C c.619G>C (p.Glu207Gln) c.-175G>C (n.-175G>C) c.274G>C (p.Glu92Gln) c.760G>C (p.Glu254Gln) | |
8 | g.132174301C>T | CA372290170 | KCNQ3 | c.982G>A (p.Glu328Lys) c.622G>A (p.Glu208Lys) c.655G>A (p.Glu219Lys) c.632G>A n.760G>A c.619G>A (p.Glu207Lys) c.-175G>A (n.-175G>A) c.274G>A (p.Glu92Lys) c.760G>A (p.Glu254Lys) | gnomAD v4 |
8 | g.132174303del | CA2688627208 | KCNQ3 | c.982del (p.Glu328LysfsTer4) c.622del (p.Glu208LysfsTer4) c.655del (p.Glu219LysfsTer4) c.632del n.760del c.619del (p.Glu207LysfsTer4) c.-175del (n.-175del) c.274del (p.Glu92LysfsTer4) c.760del (p.Glu254LysfsTer4) | gnomAD v4 |
8 | g.132174302_132174303del | CA2688627209 | KCNQ3 | c.981_982del (p.Trp327Ter) c.621_622del (p.Trp207Ter) c.654_655del (p.Trp218Ter) c.631_632del n.759_760del c.618_619del (p.Trp206Ter) c.-176_-175del (n.-176_-175del) c.273_274del (p.Trp91Ter) c.759_760del (p.Trp253Ter) | gnomAD v4 |
8 | g.132174302C>A | CA372290172 | KCNQ3 | c.981G>T (p.Trp327Cys) c.621G>T (p.Trp207Cys) c.654G>T (p.Trp218Cys) c.631G>T n.759G>T c.618G>T (p.Trp206Cys) c.-176G>T (n.-176G>T) c.273G>T (p.Trp91Cys) c.759G>T (p.Trp253Cys) | gnomAD v4 |
8 | g.132174302C>G | CA372290173 | KCNQ3 | c.981G>C (p.Trp327Cys) c.621G>C (p.Trp207Cys) c.654G>C (p.Trp218Cys) c.631G>C n.759G>C c.618G>C (p.Trp206Cys) c.-176G>C (n.-176G>C) c.273G>C (p.Trp91Cys) c.759G>C (p.Trp253Cys) | |
8 | g.132174302C>T | CA372290174 | KCNQ3 | c.981G>A (p.Trp327Ter) c.621G>A (p.Trp207Ter) c.654G>A (p.Trp218Ter) c.631G>A n.759G>A c.618G>A (p.Trp206Ter) c.-176G>A (n.-176G>A) c.273G>A (p.Trp91Ter) c.759G>A (p.Trp253Ter) | gnomAD v4 COSMIC |
8 | g.132174303C>A | CA372290175 | KCNQ3 | c.980G>T (p.Trp327Leu) c.620G>T (p.Trp207Leu) c.653G>T (p.Trp218Leu) c.630G>T n.758G>T c.617G>T (p.Trp206Leu) c.-177G>T (n.-177G>T) c.272G>T (p.Trp91Leu) c.758G>T (p.Trp253Leu) | gnomAD v4 |
8 | g.132174303C>G | CA372290176 | KCNQ3 | c.980G>C (p.Trp327Ser) c.620G>C (p.Trp207Ser) c.653G>C (p.Trp218Ser) c.630G>C n.758G>C c.617G>C (p.Trp206Ser) c.-177G>C (n.-177G>C) c.272G>C (p.Trp91Ser) c.758G>C (p.Trp253Ser) | |
8 | g.132174303C>T | CA372290177 | KCNQ3 | c.980G>A (p.Trp327Ter) c.620G>A (p.Trp207Ter) c.653G>A (p.Trp218Ter) c.630G>A n.758G>A c.617G>A (p.Trp206Ter) c.-177G>A (n.-177G>A) c.272G>A (p.Trp91Ter) c.758G>A (p.Trp253Ter) | |
8 | g.132174304A>C | CA372290178 | KCNQ3 | c.979T>G (p.Trp327Gly) c.619T>G (p.Trp207Gly) c.652T>G (p.Trp218Gly) c.629T>G n.757T>G c.616T>G (p.Trp206Gly) c.-178T>G (n.-178T>G) c.271T>G (p.Trp91Gly) c.757T>G (p.Trp253Gly) | |
8 | g.132174304A>G | CA372290179 | KCNQ3 | c.979T>C (p.Trp327Arg) c.619T>C (p.Trp207Arg) c.652T>C (p.Trp218Arg) c.629T>C n.757T>C c.616T>C (p.Trp206Arg) c.-178T>C (n.-178T>C) c.271T>C (p.Trp91Arg) c.757T>C (p.Trp253Arg) | |
8 | g.132174304A>T | CA372290180 | KCNQ3 | c.979T>A (p.Trp327Arg) c.619T>A (p.Trp207Arg) c.652T>A (p.Trp218Arg) c.629T>A n.757T>A c.616T>A (p.Trp206Arg) c.-178T>A (n.-178T>A) c.271T>A (p.Trp91Arg) c.757T>A (p.Trp253Arg) | |
8 | g.132174305C>A | CA463070300 | KCNQ3 | c.978G>T (p.Thr326=) c.618G>T (p.Thr206=) c.651G>T (p.Thr217=) c.628G>T n.756G>T c.615G>T (p.Thr205=) c.-179G>T (n.-179G>T) c.270G>T (p.Thr90=) c.756G>T (p.Thr252=) | gnomAD v4 COSMIC |
8 | g.132174305C= | CA1820664032 | KCNQ3 | c.978G= (p.Thr326=) c.618G= (p.Thr206=) c.651G= (p.Thr217=) c.628G= n.756G= c.615G= (p.Thr205=) c.-179G= (n.-179G=) c.270G= (p.Thr90=) c.756G= (p.Thr252=) | |
8 | g.132174305C>G | CA463070301 | KCNQ3 | c.978G>C (p.Thr326=) c.618G>C (p.Thr206=) c.651G>C (p.Thr217=) c.628G>C n.756G>C c.615G>C (p.Thr205=) c.-179G>C (n.-179G>C) c.270G>C (p.Thr90=) c.756G>C (p.Thr252=) | |
8 | g.132174305C>T | CA4880804 | KCNQ3 | c.978G>A (p.Thr326=) c.618G>A (p.Thr206=) c.651G>A (p.Thr217=) c.628G>A n.756G>A c.615G>A (p.Thr205=) c.-179G>A (n.-179G>A) c.270G>A (p.Thr90=) c.756G>A (p.Thr252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.132174306G>A | CA372290183 | KCNQ3 | c.977C>T (p.Thr326Met) c.617C>T (p.Thr206Met) c.650C>T (p.Thr217Met) c.627C>T n.755C>T c.614C>T (p.Thr205Met) c.-180C>T (n.-180C>T) c.269C>T (p.Thr90Met) c.755C>T (p.Thr252Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.132174306G>C | CA372290182 | KCNQ3 | c.977C>G (p.Thr326Arg) c.617C>G (p.Thr206Arg) c.650C>G (p.Thr217Arg) c.627C>G n.755C>G c.614C>G (p.Thr205Arg) c.-180C>G (n.-180C>G) c.269C>G (p.Thr90Arg) c.755C>G (p.Thr252Arg) | |
8 | g.132174306G= | CA1820664033 | KCNQ3 | c.977C= (p.Thr326=) c.617C= (p.Thr206=) c.650C= (p.Thr217=) c.627C= n.755C= c.614C= (p.Thr205=) c.-180C= (n.-180C=) c.269C= (p.Thr90=) c.755C= (p.Thr252=) | |
8 | g.132174306G>T | CA372290181 | KCNQ3 | c.977C>A (p.Thr326Lys) c.617C>A (p.Thr206Lys) c.650C>A (p.Thr217Lys) c.627C>A n.755C>A c.614C>A (p.Thr205Lys) c.-180C>A (n.-180C>A) c.269C>A (p.Thr90Lys) c.755C>A (p.Thr252Lys) | ClinVar dbSNP gnomAD v4 |
8 | g.132174307T>A | CA372290184 | KCNQ3 | c.976A>T (p.Thr326Ser) c.616A>T (p.Thr206Ser) c.649A>T (p.Thr217Ser) c.626A>T n.754A>T c.613A>T (p.Thr205Ser) c.-181A>T (n.-181A>T) c.268A>T (p.Thr90Ser) c.754A>T (p.Thr252Ser) | |
8 | g.132174307T>C | CA372290186 | KCNQ3 | c.976A>G (p.Thr326Ala) c.616A>G (p.Thr206Ala) c.649A>G (p.Thr217Ala) c.626A>G n.754A>G c.613A>G (p.Thr205Ala) c.-181A>G (n.-181A>G) c.268A>G (p.Thr90Ala) c.754A>G (p.Thr252Ala) | gnomAD v4 |
8 | g.132174307T>G | CA372290185 | KCNQ3 | c.976A>C (p.Thr326Pro) c.616A>C (p.Thr206Pro) c.649A>C (p.Thr217Pro) c.626A>C n.754A>C c.613A>C (p.Thr205Pro) c.-181A>C (n.-181A>C) c.268A>C (p.Thr90Pro) c.754A>C (p.Thr252Pro) | |
8 | g.132174308T>A | CA372290187 | KCNQ3 | c.975A>T (p.Lys325Asn) c.615A>T (p.Lys205Asn) c.648A>T (p.Lys216Asn) c.625A>T n.753A>T c.612A>T (p.Lys204Asn) c.-182A>T (n.-182A>T) c.267A>T (p.Lys89Asn) c.753A>T (p.Lys251Asn) | |
8 | g.132174308T>C | CA463070302 | KCNQ3 | c.975A>G (p.Lys325=) c.615A>G (p.Lys205=) c.648A>G (p.Lys216=) c.625A>G n.753A>G c.612A>G (p.Lys204=) c.-182A>G (n.-182A>G) c.267A>G (p.Lys89=) c.753A>G (p.Lys251=) | |
8 | g.132174308T>G | CA372290188 | KCNQ3 | c.975A>C (p.Lys325Asn) c.615A>C (p.Lys205Asn) c.648A>C (p.Lys216Asn) c.625A>C n.753A>C c.612A>C (p.Lys204Asn) c.-182A>C (n.-182A>C) c.267A>C (p.Lys89Asn) c.753A>C (p.Lys251Asn) | |
8 | g.132174309T>A | CA372290189 | KCNQ3 | c.974A>T (p.Lys325Ile) c.614A>T (p.Lys205Ile) c.647A>T (p.Lys216Ile) c.624A>T n.752A>T c.611A>T (p.Lys204Ile) c.-183A>T (n.-183A>T) c.266A>T (p.Lys89Ile) c.752A>T (p.Lys251Ile) | |
8 | g.132174309T>C | CA372290190 | KCNQ3 | c.974A>G (p.Lys325Arg) c.614A>G (p.Lys205Arg) c.647A>G (p.Lys216Arg) c.624A>G n.752A>G c.611A>G (p.Lys204Arg) c.-183A>G (n.-183A>G) c.266A>G (p.Lys89Arg) c.752A>G (p.Lys251Arg) | |
8 | g.132174309T>G | CA372290191 | KCNQ3 | c.974A>C (p.Lys325Thr) c.614A>C (p.Lys205Thr) c.647A>C (p.Lys216Thr) c.624A>C n.752A>C c.611A>C (p.Lys204Thr) c.-183A>C (n.-183A>C) c.266A>C (p.Lys89Thr) c.752A>C (p.Lys251Thr) | |
8 | g.132174310T>A | CA372290192 | KCNQ3 | c.973A>T (p.Lys325Ter) c.613A>T (p.Lys205Ter) c.646A>T (p.Lys216Ter) c.623A>T n.751A>T c.610A>T (p.Lys204Ter) c.-184A>T (n.-184A>T) c.265A>T (p.Lys89Ter) c.751A>T (p.Lys251Ter) | |
8 | g.132174310T>C | CA372290193 | KCNQ3 | c.973A>G (p.Lys325Glu) c.613A>G (p.Lys205Glu) c.646A>G (p.Lys216Glu) c.623A>G n.751A>G c.610A>G (p.Lys204Glu) c.-184A>G (n.-184A>G) c.265A>G (p.Lys89Glu) c.751A>G (p.Lys251Glu) | |
8 | g.132174310T>G | CA372290194 | KCNQ3 | c.973A>C (p.Lys325Gln) c.613A>C (p.Lys205Gln) c.646A>C (p.Lys216Gln) c.623A>C n.751A>C c.610A>C (p.Lys204Gln) c.-184A>C (n.-184A>C) c.265A>C (p.Lys89Gln) c.751A>C (p.Lys251Gln) | |
8 | g.132174311G>A | CA463070303 | KCNQ3 | c.972C>T (p.Pro324=) c.612C>T (p.Pro204=) c.645C>T (p.Pro215=) c.622C>T n.750C>T c.609C>T (p.Pro203=) c.-185C>T (n.-185C>T) c.264C>T (p.Pro88=) c.750C>T (p.Pro250=) | gnomAD v4 |
8 | g.132174311G>C | CA463070304 | KCNQ3 | c.972C>G (p.Pro324=) c.612C>G (p.Pro204=) c.645C>G (p.Pro215=) c.622C>G n.750C>G c.609C>G (p.Pro203=) c.-185C>G (n.-185C>G) c.264C>G (p.Pro88=) c.750C>G (p.Pro250=) | |
8 | g.132174311G>T | CA463070305 | KCNQ3 | c.972C>A (p.Pro324=) c.612C>A (p.Pro204=) c.645C>A (p.Pro215=) c.622C>A n.750C>A c.609C>A (p.Pro203=) c.-185C>A (n.-185C>A) c.264C>A (p.Pro88=) c.750C>A (p.Pro250=) | gnomAD v4 |
8 | g.132174312G>A | CA372290195 | KCNQ3 | c.971C>T (p.Pro324Leu) c.611C>T (p.Pro204Leu) c.644C>T (p.Pro215Leu) c.621C>T n.749C>T c.608C>T (p.Pro203Leu) c.-186C>T (n.-186C>T) c.263C>T (p.Pro88Leu) c.749C>T (p.Pro250Leu) | ClinVar gnomAD v4 |
8 | g.132174312G>C | CA372290196 | KCNQ3 | c.971C>G (p.Pro324Arg) c.611C>G (p.Pro204Arg) c.644C>G (p.Pro215Arg) c.621C>G n.749C>G c.608C>G (p.Pro203Arg) c.-186C>G (n.-186C>G) c.263C>G (p.Pro88Arg) c.749C>G (p.Pro250Arg) | |
8 | g.132174312G>T | CA372290197 | KCNQ3 | c.971C>A (p.Pro324His) c.611C>A (p.Pro204His) c.644C>A (p.Pro215His) c.621C>A n.749C>A c.608C>A (p.Pro203His) c.-186C>A (n.-186C>A) c.263C>A (p.Pro88His) c.749C>A (p.Pro250His) | gnomAD v4 |
8 | g.132174313G>A | CA372290200 | KCNQ3 | c.970C>T (p.Pro324Ser) c.610C>T (p.Pro204Ser) c.643C>T (p.Pro215Ser) c.620C>T n.748C>T c.607C>T (p.Pro203Ser) c.-187C>T (n.-187C>T) c.262C>T (p.Pro88Ser) c.748C>T (p.Pro250Ser) | gnomAD v4 |
8 | g.132174313G>C | CA372290198 | KCNQ3 | c.970C>G (p.Pro324Ala) c.610C>G (p.Pro204Ala) c.643C>G (p.Pro215Ala) c.620C>G n.748C>G c.607C>G (p.Pro203Ala) c.-187C>G (n.-187C>G) c.262C>G (p.Pro88Ala) c.748C>G (p.Pro250Ala) | ClinVar dbSNP |
8 | g.132174313G= | CA1820664034 | KCNQ3 | c.970C= (p.Pro324=) c.610C= (p.Pro204=) c.643C= (p.Pro215=) c.620C= n.748C= c.607C= (p.Pro203=) c.-187C= (n.-187C=) c.262C= (p.Pro88=) c.748C= (p.Pro250=) | |
8 | g.132174313G>T | CA372290199 | KCNQ3 | c.970C>A (p.Pro324Thr) c.610C>A (p.Pro204Thr) c.643C>A (p.Pro215Thr) c.620C>A n.748C>A c.607C>A (p.Pro203Thr) c.-187C>A (n.-187C>A) c.262C>A (p.Pro88Thr) c.748C>A (p.Pro250Thr) | |
8 | g.132174314T>A | CA463070308 | KCNQ3 | c.969A>T (p.Thr323=) c.609A>T (p.Thr203=) c.642A>T (p.Thr214=) c.619A>T n.747A>T c.606A>T (p.Thr202=) c.-188A>T (n.-188A>T) c.261A>T (p.Thr87=) c.747A>T (p.Thr249=) | |
8 | g.132174314T>C | CA463070306 | KCNQ3 | c.969A>G (p.Thr323=) c.609A>G (p.Thr203=) c.642A>G (p.Thr214=) c.619A>G n.747A>G c.606A>G (p.Thr202=) c.-188A>G (n.-188A>G) c.261A>G (p.Thr87=) c.747A>G (p.Thr249=) | gnomAD v4 |
8 | g.132174314T>G | CA463070307 | KCNQ3 | c.969A>C (p.Thr323=) c.609A>C (p.Thr203=) c.642A>C (p.Thr214=) c.619A>C n.747A>C c.606A>C (p.Thr202=) c.-188A>C (n.-188A>C) c.261A>C (p.Thr87=) c.747A>C (p.Thr249=) | |
8 | g.132174315G>A | CA372290201 | KCNQ3 | c.968C>T (p.Thr323Ile) c.608C>T (p.Thr203Ile) c.641C>T (p.Thr214Ile) c.618C>T n.746C>T c.605C>T (p.Thr202Ile) c.-189C>T (n.-189C>T) c.260C>T (p.Thr87Ile) c.746C>T (p.Thr249Ile) | gnomAD v4 |
8 | g.132174315G>C | CA372290202 | KCNQ3 | c.968C>G (p.Thr323Arg) c.608C>G (p.Thr203Arg) c.641C>G (p.Thr214Arg) c.618C>G n.746C>G c.605C>G (p.Thr202Arg) c.-189C>G (n.-189C>G) c.260C>G (p.Thr87Arg) c.746C>G (p.Thr249Arg) | gnomAD v4 |
8 | g.132174315G>T | CA372290203 | KCNQ3 | c.968C>A (p.Thr323Lys) c.608C>A (p.Thr203Lys) c.641C>A (p.Thr214Lys) c.618C>A n.746C>A c.605C>A (p.Thr202Lys) c.-189C>A (n.-189C>A) c.260C>A (p.Thr87Lys) c.746C>A (p.Thr249Lys) | gnomAD v4 |
8 | g.132174316T>A | CA372290204 | KCNQ3 | c.967A>T (p.Thr323Ser) c.607A>T (p.Thr203Ser) c.640A>T (p.Thr214Ser) c.617A>T n.745A>T c.604A>T (p.Thr202Ser) c.-190A>T (n.-190A>T) c.259A>T (p.Thr87Ser) c.745A>T (p.Thr249Ser) | |
8 | g.132174316T>C | CA372290205 | KCNQ3 | c.967A>G (p.Thr323Ala) c.607A>G (p.Thr203Ala) c.640A>G (p.Thr214Ala) c.617A>G n.745A>G c.604A>G (p.Thr202Ala) c.-190A>G (n.-190A>G) c.259A>G (p.Thr87Ala) c.745A>G (p.Thr249Ala) | |
8 | g.132174316T>G | CA372290206 | KCNQ3 | c.967A>C (p.Thr323Pro) c.607A>C (p.Thr203Pro) c.640A>C (p.Thr214Pro) c.617A>C n.745A>C c.604A>C (p.Thr202Pro) c.-190A>C (n.-190A>C) c.259A>C (p.Thr87Pro) c.745A>C (p.Thr249Pro) | |
8 | g.132174317C>A | CA372290207 | KCNQ3 | c.966G>T (p.Lys322Asn) c.606G>T (p.Lys202Asn) c.639G>T (p.Lys213Asn) c.616G>T n.744G>T c.603G>T (p.Lys201Asn) c.-191G>T (n.-191G>T) c.258G>T (p.Lys86Asn) c.744G>T (p.Lys248Asn) | gnomAD v4 |
8 | g.132174317C>G | CA372290208 | KCNQ3 | c.966G>C (p.Lys322Asn) c.606G>C (p.Lys202Asn) c.639G>C (p.Lys213Asn) c.616G>C n.744G>C c.603G>C (p.Lys201Asn) c.-191G>C (n.-191G>C) c.258G>C (p.Lys86Asn) c.744G>C (p.Lys248Asn) | |
8 | g.132174317C>T | CA463070309 | KCNQ3 | c.966G>A (p.Lys322=) c.606G>A (p.Lys202=) c.639G>A (p.Lys213=) c.616G>A n.744G>A c.603G>A (p.Lys201=) c.-191G>A (n.-191G>A) c.258G>A (p.Lys86=) c.744G>A (p.Lys248=) | gnomAD v4 |
8 | g.132174318T>A | CA372290209 | KCNQ3 | c.965A>T (p.Lys322Met) c.605A>T (p.Lys202Met) c.638A>T (p.Lys213Met) c.615A>T n.743A>T c.602A>T (p.Lys201Met) c.-192A>T (n.-192A>T) c.257A>T (p.Lys86Met) c.743A>T (p.Lys248Met) | |
8 | g.132174318T>C | CA372290210 | KCNQ3 | c.965A>G (p.Lys322Arg) c.605A>G (p.Lys202Arg) c.638A>G (p.Lys213Arg) c.615A>G n.743A>G c.602A>G (p.Lys201Arg) c.-192A>G (n.-192A>G) c.257A>G (p.Lys86Arg) c.743A>G (p.Lys248Arg) | |
8 | g.132174318T>G | CA372290211 | KCNQ3 | c.965A>C (p.Lys322Thr) c.605A>C (p.Lys202Thr) c.638A>C (p.Lys213Thr) c.615A>C n.743A>C c.602A>C (p.Lys201Thr) c.-192A>C (n.-192A>C) c.257A>C (p.Lys86Thr) c.743A>C (p.Lys248Thr) | |
8 | g.132174319T>A | CA372290213 | KCNQ3 | c.964A>T (p.Lys322Ter) c.604A>T (p.Lys202Ter) c.637A>T (p.Lys213Ter) c.614A>T n.742A>T c.601A>T (p.Lys201Ter) c.-193A>T (n.-193A>T) c.256A>T (p.Lys86Ter) c.742A>T (p.Lys248Ter) | |
8 | g.132174319T>C | CA372290214 | KCNQ3 | c.964A>G (p.Lys322Glu) c.604A>G (p.Lys202Glu) c.637A>G (p.Lys213Glu) c.614A>G n.742A>G c.601A>G (p.Lys201Glu) c.-193A>G (n.-193A>G) c.256A>G (p.Lys86Glu) c.742A>G (p.Lys248Glu) | |
8 | g.132174319T>G | CA372290212 | KCNQ3 | c.964A>C (p.Lys322Gln) c.604A>C (p.Lys202Gln) c.637A>C (p.Lys213Gln) c.614A>C n.742A>C c.601A>C (p.Lys201Gln) c.-193A>C (n.-193A>C) c.256A>C (p.Lys86Gln) c.742A>C (p.Lys248Gln) | ClinVar dbSNP |
8 | g.132174319T= | CA1820664035 | KCNQ3 | c.964A= (p.Lys322=) c.604A= (p.Lys202=) c.637A= (p.Lys213=) c.614A= n.742A= c.601A= (p.Lys201=) c.-193A= (n.-193A=) c.256A= (p.Lys86=) c.742A= (p.Lys248=) | |
8 | g.132174320G>A | CA463070310 | KCNQ3 | c.963C>T (p.Asp321=) c.603C>T (p.Asp201=) c.636C>T (p.Asp212=) c.613C>T n.741C>T c.600C>T (p.Asp200=) c.-194C>T (n.-194C>T) c.255C>T (p.Asp85=) c.741C>T (p.Asp247=) | gnomAD v4 |
8 | g.132174320G>C | CA372290215 | KCNQ3 | c.963C>G (p.Asp321Glu) c.603C>G (p.Asp201Glu) c.636C>G (p.Asp212Glu) c.613C>G n.741C>G c.600C>G (p.Asp200Glu) c.-194C>G (n.-194C>G) c.255C>G (p.Asp85Glu) c.741C>G (p.Asp247Glu) | |
8 | g.132174320G>T | CA372290216 | KCNQ3 | c.963C>A (p.Asp321Glu) c.603C>A (p.Asp201Glu) c.636C>A (p.Asp212Glu) c.613C>A n.741C>A c.600C>A (p.Asp200Glu) c.-194C>A (n.-194C>A) c.255C>A (p.Asp85Glu) c.741C>A (p.Asp247Glu) | gnomAD v4 |
8 | g.132174321T>A | CA372290217 | KCNQ3 | c.962A>T (p.Asp321Val) c.602A>T (p.Asp201Val) c.635A>T (p.Asp212Val) c.612A>T n.740A>T c.599A>T (p.Asp200Val) c.-195A>T (n.-195A>T) c.254A>T (p.Asp85Val) c.740A>T (p.Asp247Val) | gnomAD v4 |
8 | g.132174321T>C | CA372290218 | KCNQ3 | c.962A>G (p.Asp321Gly) c.602A>G (p.Asp201Gly) c.635A>G (p.Asp212Gly) c.612A>G n.740A>G c.599A>G (p.Asp200Gly) c.-195A>G (n.-195A>G) c.254A>G (p.Asp85Gly) c.740A>G (p.Asp247Gly) | ClinVar gnomAD v4 |
8 | g.132174321T>G | CA372290219 | KCNQ3 | c.962A>C (p.Asp321Ala) c.602A>C (p.Asp201Ala) c.635A>C (p.Asp212Ala) c.612A>C n.740A>C c.599A>C (p.Asp200Ala) c.-195A>C (n.-195A>C) c.254A>C (p.Asp85Ala) c.740A>C (p.Asp247Ala) | |
8 | g.132174322C>A | CA372290220 | KCNQ3 | c.961G>T (p.Asp321Tyr) c.601G>T (p.Asp201Tyr) c.634G>T (p.Asp212Tyr) c.611G>T n.739G>T c.598G>T (p.Asp200Tyr) c.-196G>T (n.-196G>T) c.253G>T (p.Asp85Tyr) c.739G>T (p.Asp247Tyr) | gnomAD v4 |
8 | g.132174322C>G | CA372290221 | KCNQ3 | c.961G>C (p.Asp321His) c.601G>C (p.Asp201His) c.634G>C (p.Asp212His) c.611G>C n.739G>C c.598G>C (p.Asp200His) c.-196G>C (n.-196G>C) c.253G>C (p.Asp85His) c.739G>C (p.Asp247His) | |
8 | g.132174322C>T | CA372290222 | KCNQ3 | c.961G>A (p.Asp321Asn) c.601G>A (p.Asp201Asn) c.634G>A (p.Asp212Asn) c.611G>A n.739G>A c.598G>A (p.Asp200Asn) c.-196G>A (n.-196G>A) c.253G>A (p.Asp85Asn) c.739G>A (p.Asp247Asn) | gnomAD v4 |
8 | g.132174323T>A | CA463070311 | KCNQ3 | c.960A>T (p.Gly320=) c.600A>T (p.Gly200=) c.633A>T (p.Gly211=) c.610A>T n.738A>T c.597A>T (p.Gly199=) c.-197A>T (n.-197A>T) c.252A>T (p.Gly84=) c.738A>T (p.Gly246=) | |
8 | g.132174323T>C | CA463070312 | KCNQ3 | c.960A>G (p.Gly320=) c.600A>G (p.Gly200=) c.633A>G (p.Gly211=) c.610A>G n.738A>G c.597A>G (p.Gly199=) c.-197A>G (n.-197A>G) c.252A>G (p.Gly84=) c.738A>G (p.Gly246=) | gnomAD v4 |
8 | g.132174323T>G | CA463070313 | KCNQ3 | c.960A>C (p.Gly320=) c.600A>C (p.Gly200=) c.633A>C (p.Gly211=) c.610A>C n.738A>C c.597A>C (p.Gly199=) c.-197A>C (n.-197A>C) c.252A>C (p.Gly84=) c.738A>C (p.Gly246=) | |
8 | g.132174324C>A | CA372290223 | KCNQ3 | c.959G>T (p.Gly320Val) c.599G>T (p.Gly200Val) c.632G>T (p.Gly211Val) c.609G>T n.737G>T c.596G>T (p.Gly199Val) c.-198G>T (n.-198G>T) c.251G>T (p.Gly84Val) c.737G>T (p.Gly246Val) | gnomAD v4 |
8 | g.132174324C= | CA1820664036 | KCNQ3 | c.959G= (p.Gly320=) c.599G= (p.Gly200=) c.632G= (p.Gly211=) c.609G= n.737G= c.596G= (p.Gly199=) c.-198G= (n.-198G=) c.251G= (p.Gly84=) c.737G= (p.Gly246=) | |
8 | g.132174324C>G | CA372290224 | KCNQ3 | c.959G>C (p.Gly320Ala) c.599G>C (p.Gly200Ala) c.632G>C (p.Gly211Ala) c.609G>C n.737G>C c.596G>C (p.Gly199Ala) c.-198G>C (n.-198G>C) c.251G>C (p.Gly84Ala) c.737G>C (p.Gly246Ala) | |
8 | g.132174324C>T | CA372290225 | KCNQ3 | c.959G>A (p.Gly320Glu) c.599G>A (p.Gly200Glu) c.632G>A (p.Gly211Glu) c.609G>A n.737G>A c.596G>A (p.Gly199Glu) c.-198G>A (n.-198G>A) c.251G>A (p.Gly84Glu) c.737G>A (p.Gly246Glu) | ClinVar dbSNP gnomAD v4 |