| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51745907C>A | CA384878211 | SCN8A | c.2003C>A (p.Thr668Lys) c.7C>A n.2131C>A c.1586C>A (p.Thr529Lys) c.2036C>A (p.Thr679Lys) | gnomAD v4 |
| 12 | g.51745907C= | CA2036190149 | SCN8A | c.2003C= (p.Thr668=) c.7C= n.2131C= c.1586C= (p.Thr529=) c.2036C= (p.Thr679=) | |
| 12 | g.51745907C>G | CA384878214 | SCN8A | c.2003C>G (p.Thr668Arg) c.7C>G n.2131C>G c.1586C>G (p.Thr529Arg) c.2036C>G (p.Thr679Arg) | |
| 12 | g.51745907C>T | CA6571404 | SCN8A | c.2003C>T (p.Thr668Ile) c.7C>T n.2131C>T c.1586C>T (p.Thr529Ile) c.2036C>T (p.Thr679Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51745908A>C | CA479787892 | SCN8A | c.2004A>C (p.Thr668=) c.8A>C n.2132A>C c.1587A>C (p.Thr529=) c.2037A>C (p.Thr679=) | |
| 12 | g.51745908A>G | CA479787893 | SCN8A | c.2004A>G (p.Thr668=) c.8A>G n.2132A>G c.1587A>G (p.Thr529=) c.2037A>G (p.Thr679=) | gnomAD v4 |
| 12 | g.51745908A>T | CA479787894 | SCN8A | c.2004A>T (p.Thr668=) c.8A>T n.2132A>T c.1587A>T (p.Thr529=) c.2037A>T (p.Thr679=) | |
| 12 | g.51745909A= | CA2036190156 | SCN8A | c.2005A= (p.Thr669=) c.9A= n.2133A= c.1588A= (p.Thr530=) c.2038A= (p.Thr680=) | |
| 12 | g.51745909A>C | CA384878217 | SCN8A | c.2005A>C (p.Thr669Pro) c.9A>C n.2133A>C c.1588A>C (p.Thr530Pro) c.2038A>C (p.Thr680Pro) | |
| 12 | g.51745909A>G | CA236309244 | SCN8A | c.2005A>G (p.Thr669Ala) c.9A>G n.2133A>G c.1588A>G (p.Thr530Ala) c.2038A>G (p.Thr680Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51745909A>T | CA384878221 | SCN8A | c.2005A>T (p.Thr669Ser) c.9A>T n.2133A>T c.1588A>T (p.Thr530Ser) c.2038A>T (p.Thr680Ser) | |
| 12 | g.51745910C>A | CA384878223 | SCN8A | c.2006C>A (p.Thr669Asn) c.10C>A n.2134C>A c.1589C>A (p.Thr530Asn) c.2039C>A (p.Thr680Asn) | gnomAD v4 |
| 12 | g.51745910C>G | CA384878225 | SCN8A | c.2006C>G (p.Thr669Ser) c.10C>G n.2134C>G c.1589C>G (p.Thr530Ser) c.2039C>G (p.Thr680Ser) | |
| 12 | g.51745910C>T | CA384878228 | SCN8A | c.2006C>T (p.Thr669Ile) c.10C>T n.2134C>T c.1589C>T (p.Thr530Ile) c.2039C>T (p.Thr680Ile) | gnomAD v4 |
| 12 | g.51745911T>A | CA479787896 | SCN8A | c.2007T>A (p.Thr669=) c.11T>A n.2135T>A c.1590T>A (p.Thr530=) c.2040T>A (p.Thr680=) | |
| 12 | g.51745911T>C | CA479787897 | SCN8A | c.2007T>C (p.Thr669=) c.11T>C n.2135T>C c.1590T>C (p.Thr530=) c.2040T>C (p.Thr680=) | |
| 12 | g.51745911T>G | CA479787898 | SCN8A | c.2007T>G (p.Thr669=) c.11T>G n.2135T>G c.1590T>G (p.Thr530=) c.2040T>G (p.Thr680=) | |
| 12 | g.51745912G>A | CA384878231 | SCN8A | c.2008G>A (p.Glu670Lys) c.12G>A n.2136G>A c.1591G>A (p.Glu531Lys) c.2041G>A (p.Glu681Lys) | |
| 12 | g.51745912G>C | CA384878232 | SCN8A | c.2008G>C (p.Glu670Gln) c.12G>C n.2136G>C c.1591G>C (p.Glu531Gln) c.2041G>C (p.Glu681Gln) | |
| 12 | g.51745912G= | CA2036190161 | SCN8A | c.2008G= (p.Glu670=) c.12G= n.2136G= c.1591G= (p.Glu531=) c.2041G= (p.Glu681=) | |
| 12 | g.51745912G>T | CA384878235 | SCN8A | c.2008G>T (p.Glu670Ter) c.12G>T n.2136G>T c.1591G>T (p.Glu531Ter) c.2041G>T (p.Glu681Ter) | dbSNP gnomAD v4 |
| 12 | g.51745913A>C | CA384878239 | SCN8A | c.2009A>C (p.Glu670Ala) c.13A>C n.2137A>C c.1592A>C (p.Glu531Ala) c.2042A>C (p.Glu681Ala) | |
| 12 | g.51745913A>G | CA384878237 | SCN8A | c.2009A>G (p.Glu670Gly) c.13A>G n.2137A>G c.1592A>G (p.Glu531Gly) c.2042A>G (p.Glu681Gly) | gnomAD v4 |
| 12 | g.51745913A>T | CA384878238 | SCN8A | c.2009A>T (p.Glu670Val) c.13A>T n.2137A>T c.1592A>T (p.Glu531Val) c.2042A>T (p.Glu681Val) | |
| 12 | g.51745914G>A | CA479787899 | SCN8A | c.2010G>A (p.Glu670=) c.14G>A n.2138G>A c.1593G>A (p.Glu531=) c.2043G>A (p.Glu681=) | gnomAD v4 |
| 12 | g.51745914G>C | CA384878240 | SCN8A | c.2010G>C (p.Glu670Asp) c.14G>C n.2138G>C c.1593G>C (p.Glu531Asp) c.2043G>C (p.Glu681Asp) | ClinVar |
| 12 | g.51745914G>T | CA384878241 | SCN8A | c.2010G>T (p.Glu670Asp) c.14G>T n.2138G>T c.1593G>T (p.Glu531Asp) c.2043G>T (p.Glu681Asp) | |
| 12 | g.51745915G>A | CA384878242 | SCN8A | c.2011G>A (p.Val671Met) c.15G>A n.2139G>A c.1594G>A (p.Val532Met) c.2044G>A (p.Val682Met) | gnomAD v4 |
| 12 | g.51745915G>C | CA6571405 | SCN8A | c.2011G>C (p.Val671Leu) c.15G>C n.2139G>C c.1594G>C (p.Val532Leu) c.2044G>C (p.Val682Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51745915G= | CA2036190169 | SCN8A | c.2011G= (p.Val671=) c.15G= n.2139G= c.1594G= (p.Val532=) c.2044G= (p.Val682=) | |
| 12 | g.51745915G>T | CA384878243 | SCN8A | c.2011G>T (p.Val671Leu) c.15G>T n.2139G>T c.1594G>T (p.Val532Leu) c.2044G>T (p.Val682Leu) | gnomAD v4 |
| 12 | g.51745916T>A | CA384878244 | SCN8A | c.2012T>A (p.Val671Glu) c.16T>A n.2140T>A c.1595T>A (p.Val532Glu) c.2045T>A (p.Val682Glu) | gnomAD v4 |
| 12 | g.51745916T>C | CA384878246 | SCN8A | c.2012T>C (p.Val671Ala) c.16T>C n.2140T>C c.1595T>C (p.Val532Ala) c.2045T>C (p.Val682Ala) | |
| 12 | g.51745916T>G | CA6571406 | SCN8A | c.2012T>G (p.Val671Gly) c.16T>G n.2140T>G c.1595T>G (p.Val532Gly) c.2045T>G (p.Val682Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51745916T= | CA2036190179 | SCN8A | c.2012T= (p.Val671=) c.16T= n.2140T= c.1595T= (p.Val532=) c.2045T= (p.Val682=) | |
| 12 | g.51745917G>A | CA479787902 | SCN8A | c.2013G>A (p.Val671=) c.17G>A n.2141G>A c.1596G>A (p.Val532=) c.2046G>A (p.Val682=) | gnomAD v4 |
| 12 | g.51745917G>C | CA479787901 | SCN8A | c.2013G>C (p.Val671=) c.17G>C n.2141G>C c.1596G>C (p.Val532=) c.2046G>C (p.Val682=) | |
| 12 | g.51745917G>T | CA479787900 | SCN8A | c.2013G>T (p.Val671=) c.17G>T n.2141G>T c.1596G>T (p.Val532=) c.2046G>T (p.Val682=) | gnomAD v4 |
| 12 | g.51745918G>A | CA384878250 | SCN8A | c.2014G>A (p.Glu672Lys) c.18G>A n.2142G>A c.1597G>A (p.Glu533Lys) c.2047G>A (p.Glu683Lys) | gnomAD v4 |
| 12 | g.51745918G>C | CA384878256 | SCN8A | c.2014G>C (p.Glu672Gln) c.18G>C n.2142G>C c.1597G>C (p.Glu533Gln) c.2047G>C (p.Glu683Gln) | |
| 12 | g.51745918G= | CA2036190189 | SCN8A | c.2014G= (p.Glu672=) c.18G= n.2142G= c.1597G= (p.Glu533=) c.2047G= (p.Glu683=) | |
| 12 | g.51745918G>T | CA384878260 | SCN8A | c.2014G>T (p.Glu672Ter) c.18G>T n.2142G>T c.1597G>T (p.Glu533Ter) c.2047G>T (p.Glu683Ter) | dbSNP gnomAD v4 |
| 12 | g.51745919A>C | CA384878269 | SCN8A | c.2015A>C (p.Glu672Ala) c.19A>C n.2143A>C c.1598A>C (p.Glu533Ala) c.2048A>C (p.Glu683Ala) | |
| 12 | g.51745919A>G | CA384878266 | SCN8A | c.2015A>G (p.Glu672Gly) c.19A>G n.2143A>G c.1598A>G (p.Glu533Gly) c.2048A>G (p.Glu683Gly) | gnomAD v4 |
| 12 | g.51745919A>T | CA384878264 | SCN8A | c.2015A>T (p.Glu672Val) c.19A>T n.2143A>T c.1598A>T (p.Glu533Val) c.2048A>T (p.Glu683Val) | |
| 12 | g.51745920A>C | CA384878273 | SCN8A | c.2016A>C (p.Glu672Asp) c.20A>C n.2144A>C c.1599A>C (p.Glu533Asp) c.2049A>C (p.Glu683Asp) | ClinVar |
| 12 | g.51745920A>G | CA479787903 | SCN8A | c.2016A>G (p.Glu672=) c.20A>G n.2144A>G c.1599A>G (p.Glu533=) c.2049A>G (p.Glu683=) | gnomAD v4 |
| 12 | g.51745920A>T | CA384878274 | SCN8A | c.2016A>T (p.Glu672Asp) c.20A>T n.2144A>T c.1599A>T (p.Glu533Asp) c.2049A>T (p.Glu683Asp) | |
| 12 | g.51745921A= | CA2036190193 | SCN8A | c.2017A= (p.Ile673=) c.21A= n.2145A= c.1600A= (p.Ile534=) c.2050A= (p.Ile684=) | |
| 12 | g.51745921A>C | CA384878278 | SCN8A | c.2017A>C (p.Ile673Leu) c.21A>C n.2145A>C c.1600A>C (p.Ile534Leu) c.2050A>C (p.Ile684Leu) |