| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63472361_63472362delinsTG | CA2374810990 | KCNQ2 | c.102_103delinsCA (p.Ser34=) n.228_229delinsCA | |
| 20 | g.63472362G>A | CA511339924 | KCNQ2 | c.102C>T (p.Ser34=) n.228C>T | gnomAD v4 |
| 20 | g.63472362G>C | CA511339925 | KCNQ2 | c.102C>G (p.Ser34=) n.228C>G | |
| 20 | g.63472362G>T | CA511339926 | KCNQ2 | c.102C>A (p.Ser34=) n.228C>A | gnomAD v4 |
| 20 | g.63472363del | CA913190655 | KCNQ2 | c.102del (p.Thr35ProfsTer7) n.228del | ClinVar dbSNP |
| 20 | g.63472363G>A | CA317423899 | KCNQ2 | c.101C>T (p.Ser34Phe) n.227C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472363G>C | CA409635729 | KCNQ2 | c.101C>G (p.Ser34Cys) n.227C>G | |
| 20 | g.63472363G= | CA2374810991 | KCNQ2 | c.101C= (p.Ser34=) n.227C= | |
| 20 | g.63472363G>T | CA409635731 | KCNQ2 | c.101C>A (p.Ser34Tyr) n.227C>A | gnomAD v4 |
| 20 | g.63472364A>C | CA409635738 | KCNQ2 | c.100T>G (p.Ser34Ala) n.226T>G | |
| 20 | g.63472364A>G | CA409635737 | KCNQ2 | c.100T>C (p.Ser34Pro) n.226T>C | gnomAD v4 |
| 20 | g.63472364A>T | CA409635734 | KCNQ2 | c.100T>A (p.Ser34Thr) n.226T>A | |
| 20 | g.63472365G>A | CA511339927 | KCNQ2 | c.99C>T (p.Asp33=) n.225C>T | |
| 20 | g.63472365G>C | CA409635742 | KCNQ2 | c.99C>G (p.Asp33Glu) n.225C>G | |
| 20 | g.63472365G>T | CA409635744 | KCNQ2 | c.99C>A (p.Asp33Glu) n.225C>A | gnomAD v4 |
| 20 | g.63472365_63472375del | CA2580098419 | KCNQ2 | c.89_99del (p.Gly30ValfsTer?) n.215_225del | ClinVar |
| 20 | g.63472366T>A | CA409635749 | KCNQ2 | c.98A>T (p.Asp33Val) n.224A>T | |
| 20 | g.63472366T>C | CA409635750 | KCNQ2 | c.98A>G (p.Asp33Gly) n.224A>G | gnomAD v4 |
| 20 | g.63472366T>G | CA409635753 | KCNQ2 | c.98A>C (p.Asp33Ala) n.224A>C | |
| 20 | g.63472367C>A | CA409635761 | KCNQ2 | c.97G>T (p.Asp33Tyr) n.223G>T | gnomAD v4 |
| 20 | g.63472367C>G | CA409635758 | KCNQ2 | c.97G>C (p.Asp33His) n.223G>C | |
| 20 | g.63472367C>T | CA409635756 | KCNQ2 | c.97G>A (p.Asp33Asn) n.223G>A | gnomAD v4 |
| 20 | g.63472368G>A | CA511339928 | KCNQ2 | c.96C>T (p.Pro32=) n.222C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.63472368G>C | CA511339929 | KCNQ2 | c.96C>G (p.Pro32=) n.222C>G | |
| 20 | g.63472368G>T | CA511339930 | KCNQ2 | c.96C>A (p.Pro32=) n.222C>A | gnomAD v4 |
| 20 | g.63472369G>A | CA409635764 | KCNQ2 | c.95C>T (p.Pro32Leu) n.221C>T | gnomAD v4 |
| 20 | g.63472369G>C | CA409635766 | KCNQ2 | c.95C>G (p.Pro32Arg) n.221C>G | |
| 20 | g.63472369G>T | CA409635767 | KCNQ2 | c.95C>A (p.Pro32His) n.221C>A | gnomAD v4 |
| 20 | g.63472370G>A | CA409635769 | KCNQ2 | c.94C>T (p.Pro32Ser) n.220C>T | gnomAD v4 |
| 20 | g.63472370G>C | CA409635772 | KCNQ2 | c.94C>G (p.Pro32Ala) n.220C>G | ClinVar |
| 20 | g.63472370G>T | CA409635775 | KCNQ2 | c.94C>A (p.Pro32Thr) n.220C>A | gnomAD v4 |
| 20 | g.63472371C>A | CA511339931 | KCNQ2 | c.93G>T (p.Ala31=) n.219G>T | gnomAD v4 |
| 20 | g.63472371C= | CA2374810992 | KCNQ2 | c.93G= (p.Ala31=) n.219G= | |
| 20 | g.63472371C>G | CA511339932 | KCNQ2 | c.93G>C (p.Ala31=) n.219G>C | dbSNP gnomAD v4 |
| 20 | g.63472371C>T | CA511339933 | KCNQ2 | c.93G>A (p.Ala31=) n.219G>A | gnomAD v4 |
| 20 | g.63472372G>A | CA409635778 | KCNQ2 | c.92C>T (p.Ala31Val) n.218C>T | gnomAD v4 |
| 20 | g.63472372G>C | CA409635785 | KCNQ2 | c.92C>G (p.Ala31Gly) n.218C>G | |
| 20 | g.63472372G>T | CA409635783 | KCNQ2 | c.92C>A (p.Ala31Glu) n.218C>A | gnomAD v4 |
| 20 | g.63472373C>A | CA409635789 | KCNQ2 | c.91G>T (p.Ala31Ser) n.217G>T | ClinVar gnomAD v4 |
| 20 | g.63472373C>G | CA409635791 | KCNQ2 | c.91G>C (p.Ala31Pro) n.217G>C | |
| 20 | g.63472373C>T | CA409635795 | KCNQ2 | c.91G>A (p.Ala31Thr) n.217G>A | gnomAD v4 |
| 20 | g.63472374G>A | CA511339934 | KCNQ2 | c.90C>T (p.Gly30=) n.216C>T | gnomAD v4 |
| 20 | g.63472374G>C | CA511339935 | KCNQ2 | c.90C>G (p.Gly30=) n.216C>G | gnomAD v4 |
| 20 | g.63472374G>T | CA511339936 | KCNQ2 | c.90C>A (p.Gly30=) n.216C>A | gnomAD v4 |
| 20 | g.63472375C>A | CA409635798 | KCNQ2 | c.89G>T (p.Gly30Val) n.215G>T | gnomAD v4 |
| 20 | g.63472375C= | CA2374810993 | KCNQ2 | c.89G= (p.Gly30=) n.215G= | |
| 20 | g.63472375C>G | CA409635800 | KCNQ2 | c.89G>C (p.Gly30Ala) n.215G>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472375C>T | CA409635804 | KCNQ2 | c.89G>A (p.Gly30Asp) n.215G>A | gnomAD v4 |
| 20 | g.63472376C>A | CA409635807 | KCNQ2 | c.88G>T (p.Gly30Cys) n.214G>T | gnomAD v4 |
| 20 | g.63472376C= | CA2374810994 | KCNQ2 | c.88G= (p.Gly30=) n.214G= |