| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444754_63444757delinsTCCG | CA2374796151 | KCNQ2 | c.592_595delinsCGGA (p.Arg198=) n.330_333delinsCGGA c.73_76delinsCGGA (p.Arg25=) c.250_253delinsCGGA (p.Arg84=) n.718_721delinsCGGA n.434_437delinsCGGA c.13_16delinsCGGA (p.Arg5=) n.417_420delinsCGGA c.523_526delinsCGGA (p.Arg175=) | |
| 20 | g.63444755C>A | CA511211439 | KCNQ2 | c.594G>T (p.Arg198=) n.332G>T c.75G>T (p.Arg25=) c.252G>T (p.Arg84=) n.720G>T n.436G>T c.15G>T (p.Arg5=) n.419G>T c.525G>T (p.Arg175=) | |
| 20 | g.63444755C>G | CA511211441 | KCNQ2 | c.594G>C (p.Arg198=) n.332G>C c.75G>C (p.Arg25=) c.252G>C (p.Arg84=) n.720G>C n.436G>C c.15G>C (p.Arg5=) n.419G>C c.525G>C (p.Arg175=) | gnomAD v4 |
| 20 | g.63444755C>T | CA511211443 | KCNQ2 | c.594G>A (p.Arg198=) n.332G>A c.75G>A (p.Arg25=) c.252G>A (p.Arg84=) n.720G>A n.436G>A c.15G>A (p.Arg5=) n.419G>A c.525G>A (p.Arg175=) | |
| 20 | g.63444755_63444757delinsT | CA10654827 | KCNQ2 | c.592_594delinsA (p.Arg198LysfsTer?) n.330_332delinsA c.73_75delinsA (p.Arg25LysfsTer?) c.250_252delinsA (p.Arg84LysfsTer?) n.718_720delinsA n.434_436delinsA c.13_15delinsA (p.Arg5LysfsTer?) n.417_419delinsA c.523_525delinsA (p.Arg175LysfsTer?) | ClinVar dbSNP |
| 20 | g.63444755_63444765delinsCCGGAGCGCAG | CA2374796159 | KCNQ2 | c.584_594delinsCTGCGCTCCGG (p.Ser195=) n.322_332delinsCTGCGCTCCGG c.65_75delinsCTGCGCTCCGG (p.Ser22=) c.242_252delinsCTGCGCTCCGG (p.Ser81=) n.710_720delinsCTGCGCTCCGG n.426_436delinsCTGCGCTCCGG c.5_15delinsCTGCGCTCCGG (p.Ser2=) n.409_419delinsCTGCGCTCCGG c.515_525delinsCTGCGCTCCGG (p.Ser172=) | |
| 20 | g.63444756C>A | CA409654817 | KCNQ2 | c.593G>T (p.Arg198Leu) n.331G>T c.74G>T (p.Arg25Leu) c.251G>T (p.Arg84Leu) n.719G>T n.435G>T c.14G>T (p.Arg5Leu) n.418G>T c.524G>T (p.Arg175Leu) | |
| 20 | g.63444756C= | CA2374796165 | KCNQ2 | c.593G= (p.Arg198=) n.331G= c.74G= (p.Arg25=) c.251G= (p.Arg84=) n.719G= n.435G= c.14G= (p.Arg5=) n.418G= c.524G= (p.Arg175=) | |
| 20 | g.63444756C>G | CA409654818 | KCNQ2 | c.593G>C (p.Arg198Pro) n.331G>C c.74G>C (p.Arg25Pro) c.251G>C (p.Arg84Pro) n.719G>C n.435G>C c.14G>C (p.Arg5Pro) n.418G>C c.524G>C (p.Arg175Pro) | ClinVar dbSNP |
| 20 | g.63444756C>T | CA315361 | KCNQ2 | c.593G>A (p.Arg198Gln) n.331G>A c.74G>A (p.Arg25Gln) c.251G>A (p.Arg84Gln) n.719G>A n.435G>A c.14G>A (p.Arg5Gln) n.418G>A c.524G>A (p.Arg175Gln) | ClinVar dbSNP |
| 20 | g.63444756_63444765delinsT | CA342510 | KCNQ2 | c.584_593delinsA (p.Ser195Ter) n.322_331delinsA c.65_74delinsA (p.Ser22Ter) c.242_251delinsA (p.Ser81Ter) n.710_719delinsA n.426_435delinsA c.5_14delinsA (p.Ser2Ter) n.409_418delinsA c.515_524delinsA (p.Ser172Ter) | ClinVar dbSNP |
| 20 | g.63444757G>A | CA409654819 | KCNQ2 | c.592C>T (p.Arg198Trp) n.330C>T c.73C>T (p.Arg25Trp) c.250C>T (p.Arg84Trp) n.718C>T n.434C>T c.13C>T (p.Arg5Trp) n.417C>T c.523C>T (p.Arg175Trp) | ClinVar dbSNP |
| 20 | g.63444757G>C | CA409654820 | KCNQ2 | c.592C>G (p.Arg198Gly) n.330C>G c.73C>G (p.Arg25Gly) c.250C>G (p.Arg84Gly) n.718C>G n.434C>G c.13C>G (p.Arg5Gly) n.417C>G c.523C>G (p.Arg175Gly) | |
| 20 | g.63444757G>T | CA511211449 | KCNQ2 | c.592C>A (p.Arg198=) n.330C>A c.73C>A (p.Arg25=) c.250C>A (p.Arg84=) n.718C>A n.434C>A c.13C>A (p.Arg5=) n.417C>A c.523C>A (p.Arg175=) | |
| 20 | g.63444758G>A | CA511211452 | KCNQ2 | c.591C>T (p.Leu197=) n.329C>T c.72C>T (p.Leu24=) c.249C>T (p.Leu83=) n.717C>T n.433C>T c.12C>T (p.Leu4=) n.416C>T c.522C>T (p.Leu174=) | |
| 20 | g.63444758G>C | CA511211454 | KCNQ2 | c.591C>G (p.Leu197=) n.329C>G c.72C>G (p.Leu24=) c.249C>G (p.Leu83=) n.717C>G n.433C>G c.12C>G (p.Leu4=) n.416C>G c.522C>G (p.Leu174=) | |
| 20 | g.63444758G>T | CA511211455 | KCNQ2 | c.591C>A (p.Leu197=) n.329C>A c.72C>A (p.Leu24=) c.249C>A (p.Leu83=) n.717C>A n.433C>A c.12C>A (p.Leu4=) n.416C>A c.522C>A (p.Leu174=) | |
| 20 | g.63444759A= | CA2374796172 | KCNQ2 | c.590T= (p.Leu197=) n.328T= c.71T= (p.Leu24=) c.248T= (p.Leu83=) n.716T= n.432T= c.11T= (p.Leu4=) n.415T= c.521T= (p.Leu174=) | |
| 20 | g.63444759A>C | CA409654821 | KCNQ2 | c.590T>G (p.Leu197Arg) n.328T>G c.71T>G (p.Leu24Arg) c.248T>G (p.Leu83Arg) n.716T>G n.432T>G c.11T>G (p.Leu4Arg) n.415T>G c.521T>G (p.Leu174Arg) | |
| 20 | g.63444759A>G | CA409654822 | KCNQ2 | c.590T>C (p.Leu197Pro) n.328T>C c.71T>C (p.Leu24Pro) c.248T>C (p.Leu83Pro) n.716T>C n.432T>C c.11T>C (p.Leu4Pro) n.415T>C c.521T>C (p.Leu174Pro) | ClinVar dbSNP |
| 20 | g.63444759A>T | CA409654823 | KCNQ2 | c.590T>A (p.Leu197His) n.328T>A c.71T>A (p.Leu24His) c.248T>A (p.Leu83His) n.716T>A n.432T>A c.11T>A (p.Leu4His) n.415T>A c.521T>A (p.Leu174His) | |
| 20 | g.63444759_63444762delinsGGCA | CA2695230091 | KCNQ2 | c.587_590delinsTGCC (p.Ala196_Leu197delinsValPro) n.325_328delinsTGCC c.68_71delinsTGCC (p.Ala23_Leu24delinsValPro) c.245_248delinsTGCC (p.Ala82_Leu83delinsValPro) n.713_716delinsTGCC n.429_432delinsTGCC c.8_11delinsTGCC (p.Ala3_Leu4delinsValPro) n.412_415delinsTGCC c.518_521delinsTGCC (p.Ala173_Leu174delinsValPro) | |
| 20 | g.63444760G>A | CA409654824 | KCNQ2 | c.589C>T (p.Leu197Phe) n.327C>T c.70C>T (p.Leu24Phe) c.247C>T (p.Leu83Phe) n.715C>T n.431C>T c.10C>T (p.Leu4Phe) n.414C>T c.520C>T (p.Leu174Phe) | |
| 20 | g.63444760G>C | CA409654826 | KCNQ2 | c.589C>G (p.Leu197Val) n.327C>G c.70C>G (p.Leu24Val) c.247C>G (p.Leu83Val) n.715C>G n.431C>G c.10C>G (p.Leu4Val) n.414C>G c.520C>G (p.Leu174Val) | |
| 20 | g.63444760G>T | CA409654825 | KCNQ2 | c.589C>A (p.Leu197Ile) n.327C>A c.70C>A (p.Leu24Ile) c.247C>A (p.Leu83Ile) n.715C>A n.431C>A c.10C>A (p.Leu4Ile) n.414C>A c.520C>A (p.Leu174Ile) | |
| 20 | g.63444761C>A | CA511211462 | KCNQ2 | c.588G>T (p.Ala196=) n.326G>T c.69G>T (p.Ala23=) c.246G>T (p.Ala82=) n.714G>T n.430G>T c.9G>T (p.Ala3=) n.413G>T c.519G>T (p.Ala173=) | gnomAD v4 |
| 20 | g.63444761C= | CA2374796173 | KCNQ2 | c.588G= (p.Ala196=) n.326G= c.69G= (p.Ala23=) c.246G= (p.Ala82=) n.714G= n.430G= c.9G= (p.Ala3=) n.413G= c.519G= (p.Ala173=) | |
| 20 | g.63444761C>G | CA511211464 | KCNQ2 | c.588G>C (p.Ala196=) n.326G>C c.69G>C (p.Ala23=) c.246G>C (p.Ala82=) n.714G>C n.430G>C c.9G>C (p.Ala3=) n.413G>C c.519G>C (p.Ala173=) | |
| 20 | g.63444761C>T | CA9958773 | KCNQ2 | c.588G>A (p.Ala196=) n.326G>A c.69G>A (p.Ala23=) c.246G>A (p.Ala82=) n.714G>A n.430G>A c.9G>A (p.Ala3=) n.413G>A c.519G>A (p.Ala173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444762G>A | CA342514 | KCNQ2 | c.587C>T (p.Ala196Val) n.325C>T c.68C>T (p.Ala23Val) c.245C>T (p.Ala82Val) n.713C>T n.429C>T c.8C>T (p.Ala3Val) n.412C>T c.518C>T (p.Ala173Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444762G>C | CA409654827 | KCNQ2 | c.587C>G (p.Ala196Gly) n.325C>G c.68C>G (p.Ala23Gly) c.245C>G (p.Ala82Gly) n.713C>G n.429C>G c.8C>G (p.Ala3Gly) n.412C>G c.518C>G (p.Ala173Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444762G= | CA2374796174 | KCNQ2 | c.587C= (p.Ala196=) n.325C= c.68C= (p.Ala23=) c.245C= (p.Ala82=) n.713C= n.429C= c.8C= (p.Ala3=) n.412C= c.518C= (p.Ala173=) | |
| 20 | g.63444762G>T | CA409654828 | KCNQ2 | c.587C>A (p.Ala196Glu) n.325C>A c.68C>A (p.Ala23Glu) c.245C>A (p.Ala82Glu) n.713C>A n.429C>A c.8C>A (p.Ala3Glu) n.412C>A c.518C>A (p.Ala173Glu) | |
| 20 | g.63444763C>A | CA409654829 | KCNQ2 | c.586G>T (p.Ala196Ser) n.324G>T c.67G>T (p.Ala23Ser) c.244G>T (p.Ala82Ser) n.712G>T n.428G>T c.7G>T (p.Ala3Ser) n.411G>T c.517G>T (p.Ala173Ser) | |
| 20 | g.63444763C= | CA2374796175 | KCNQ2 | c.586G= (p.Ala196=) n.324G= c.67G= (p.Ala23=) c.244G= (p.Ala82=) n.712G= n.428G= c.7G= (p.Ala3=) n.411G= c.517G= (p.Ala173=) | |
| 20 | g.63444763C>G | CA409654830 | KCNQ2 | c.586G>C (p.Ala196Pro) n.324G>C c.67G>C (p.Ala23Pro) c.244G>C (p.Ala82Pro) n.712G>C n.428G>C c.7G>C (p.Ala3Pro) n.411G>C c.517G>C (p.Ala173Pro) | |
| 20 | g.63444763C>T | CA409654831 | KCNQ2 | c.586G>A (p.Ala196Thr) n.324G>A c.67G>A (p.Ala23Thr) c.244G>A (p.Ala82Thr) n.712G>A n.428G>A c.7G>A (p.Ala3Thr) n.411G>A c.517G>A (p.Ala173Thr) | |
| 20 | g.63444764A>C | CA511211475 | KCNQ2 | c.585T>G (p.Ser195=) n.323T>G c.66T>G (p.Ser22=) c.243T>G (p.Ser81=) n.711T>G n.427T>G c.6T>G (p.Ser2=) n.410T>G c.516T>G (p.Ser172=) | |
| 20 | g.63444764A>G | CA511211477 | KCNQ2 | c.585T>C (p.Ser195=) n.323T>C c.66T>C (p.Ser22=) c.243T>C (p.Ser81=) n.711T>C n.427T>C c.6T>C (p.Ser2=) n.410T>C c.516T>C (p.Ser172=) | gnomAD v4 |
| 20 | g.63444764A>T | CA511211473 | KCNQ2 | c.585T>A (p.Ser195=) n.323T>A c.66T>A (p.Ser22=) c.243T>A (p.Ser81=) n.711T>A n.427T>A c.6T>A (p.Ser2=) n.410T>A c.516T>A (p.Ser172=) | |
| 20 | g.63444764dup | CA342513 | KCNQ2 | c.585dup (p.Ala196CysfsTer?) n.323dup c.66dup (p.Ala23CysfsTer?) c.243dup (p.Ala82CysfsTer?) n.711dup n.427dup c.6dup (p.Ala3CysfsTer?) n.410dup c.516dup (p.Ala173CysfsTer?) | ClinVar dbSNP |
| 20 | g.63444765G>A | CA409654832 | KCNQ2 | c.584C>T (p.Ser195Phe) n.322C>T c.65C>T (p.Ser22Phe) c.242C>T (p.Ser81Phe) n.710C>T n.426C>T c.5C>T (p.Ser2Phe) n.409C>T c.515C>T (p.Ser172Phe) | ClinVar dbSNP |
| 20 | g.63444765G>C | CA409654833 | KCNQ2 | c.584C>G (p.Ser195Cys) n.322C>G c.65C>G (p.Ser22Cys) c.242C>G (p.Ser81Cys) n.710C>G n.426C>G c.5C>G (p.Ser2Cys) n.409C>G c.515C>G (p.Ser172Cys) | ClinVar dbSNP |
| 20 | g.63444765G= | CA2374796176 | KCNQ2 | c.584C= (p.Ser195=) n.322C= c.65C= (p.Ser22=) c.242C= (p.Ser81=) n.710C= n.426C= c.5C= (p.Ser2=) n.409C= c.515C= (p.Ser172=) | |
| 20 | g.63444765G>T | CA409654834 | KCNQ2 | c.584C>A (p.Ser195Tyr) n.322C>A c.65C>A (p.Ser22Tyr) c.242C>A (p.Ser81Tyr) n.710C>A n.426C>A c.5C>A (p.Ser2Tyr) n.409C>A c.515C>A (p.Ser172Tyr) | |
| 20 | g.63444766A= | CA2374796177 | KCNQ2 | c.583T= (p.Ser195=) n.321T= c.64T= (p.Ser22=) c.241T= (p.Ser81=) n.709T= n.425T= c.4T= (p.Ser2=) n.408T= c.514T= (p.Ser172=) | |
| 20 | g.63444766A>C | CA409654835 | KCNQ2 | c.583T>G (p.Ser195Ala) n.321T>G c.64T>G (p.Ser22Ala) c.241T>G (p.Ser81Ala) n.709T>G n.425T>G c.4T>G (p.Ser2Ala) n.408T>G c.514T>G (p.Ser172Ala) | |
| 20 | g.63444766A>G | CA315359 | KCNQ2 | c.583T>C (p.Ser195Pro) n.321T>C c.64T>C (p.Ser22Pro) c.241T>C (p.Ser81Pro) n.709T>C n.425T>C c.4T>C (p.Ser2Pro) n.408T>C c.514T>C (p.Ser172Pro) | ClinVar dbSNP |
| 20 | g.63444766A>T | CA409654836 | KCNQ2 | c.583T>A (p.Ser195Thr) n.321T>A c.64T>A (p.Ser22Thr) c.241T>A (p.Ser81Thr) n.709T>A n.425T>A c.4T>A (p.Ser2Thr) n.408T>A c.514T>A (p.Ser172Thr) | COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444767T>A | CA511211487 | KCNQ2 | c.582A>T (p.Thr194=) n.320A>T c.63A>T (p.Thr21=) c.240A>T (p.Thr80=) n.708A>T n.424A>T c.3A>T (p.Thr1=) n.407A>T c.513A>T (p.Thr171=) |