Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51807118C>A | CA384888221 | SCN8A | c.5632C>A (p.Pro1878Thr) c.5509C>A (p.Pro1837Thr) c.5665C>A (p.Pro1889Thr) | |
12 | g.51807118C>G | CA384888225 | SCN8A | c.5632C>G (p.Pro1878Ala) c.5509C>G (p.Pro1837Ala) c.5665C>G (p.Pro1889Ala) | |
12 | g.51807118C>T | CA384888226 | SCN8A | c.5632C>T (p.Pro1878Ser) c.5509C>T (p.Pro1837Ser) c.5665C>T (p.Pro1889Ser) | COSMIC COSMIC |
12 | g.51807119C>A | CA384888227 | SCN8A | c.5633C>A (p.Pro1878His) c.5510C>A (p.Pro1837His) c.5666C>A (p.Pro1889His) | |
12 | g.51807119C>G | CA384888230 | SCN8A | c.5633C>G (p.Pro1878Arg) c.5510C>G (p.Pro1837Arg) c.5666C>G (p.Pro1889Arg) | ClinVar |
12 | g.51807119C>T | CA384888231 | SCN8A | c.5633C>T (p.Pro1878Leu) c.5510C>T (p.Pro1837Leu) c.5666C>T (p.Pro1889Leu) | |
12 | g.51807120T>A | CA480062111 | SCN8A | c.5634T>A (p.Pro1878=) c.5511T>A (p.Pro1837=) c.5667T>A (p.Pro1889=) | |
12 | g.51807120T>C | CA480062116 | SCN8A | c.5634T>C (p.Pro1878=) c.5511T>C (p.Pro1837=) c.5667T>C (p.Pro1889=) | |
12 | g.51807120T>G | CA480062113 | SCN8A | c.5634T>G (p.Pro1878=) c.5511T>G (p.Pro1837=) c.5667T>G (p.Pro1889=) | |
12 | g.51807121T>A | CA384888235 | SCN8A | c.5635T>A (p.Ser1879Thr) c.5512T>A (p.Ser1838Thr) c.5668T>A (p.Ser1890Thr) | |
12 | g.51807121T>C | CA384888238 | SCN8A | c.5635T>C (p.Ser1879Pro) c.5512T>C (p.Ser1838Pro) c.5668T>C (p.Ser1890Pro) | |
12 | g.51807121T>G | CA384888240 | SCN8A | c.5635T>G (p.Ser1879Ala) c.5512T>G (p.Ser1838Ala) c.5668T>G (p.Ser1890Ala) | |
12 | g.51807122C>A | CA384888251 | SCN8A | c.5636C>A (p.Ser1879Tyr) c.5513C>A (p.Ser1838Tyr) c.5669C>A (p.Ser1890Tyr) | ClinVar |
12 | g.51807122C>G | CA384888243 | SCN8A | c.5636C>G (p.Ser1879Cys) c.5513C>G (p.Ser1838Cys) c.5669C>G (p.Ser1890Cys) | |
12 | g.51807122C>T | CA384888247 | SCN8A | c.5636C>T (p.Ser1879Phe) c.5513C>T (p.Ser1838Phe) c.5669C>T (p.Ser1890Phe) | ClinVar COSMIC COSMIC |
12 | g.51807123C>A | CA480062125 | SCN8A | c.5637C>A (p.Ser1879=) c.5514C>A (p.Ser1838=) c.5670C>A (p.Ser1890=) | |
12 | g.51807123C>G | CA480062126 | SCN8A | c.5637C>G (p.Ser1879=) c.5514C>G (p.Ser1838=) c.5670C>G (p.Ser1890=) | |
12 | g.51807123C>T | CA480062127 | SCN8A | c.5637C>T (p.Ser1879=) c.5514C>T (p.Ser1838=) c.5670C>T (p.Ser1890=) | |
12 | g.51807124A= | CA2036194654 | SCN8A | c.5638A= (p.Lys1880=) c.5515A= (p.Lys1839=) c.5671A= (p.Lys1891=) | |
12 | g.51807124A>C | CA384888253 | SCN8A | c.5638A>C (p.Lys1880Gln) c.5515A>C (p.Lys1839Gln) c.5671A>C (p.Lys1891Gln) | |
12 | g.51807124A>G | CA384888255 | SCN8A | c.5638A>G (p.Lys1880Glu) c.5515A>G (p.Lys1839Glu) c.5671A>G (p.Lys1891Glu) | ClinVar dbSNP |
12 | g.51807124A>T | CA384888257 | SCN8A | c.5638A>T (p.Lys1880Ter) c.5515A>T (p.Lys1839Ter) c.5671A>T (p.Lys1891Ter) | dbSNP |
12 | g.51807125_51807126dup | CA2618842115 | SCN8A | c.5639_5640dup (p.Val1881LysfsTer?) c.5516_5517dup (p.Val1840LysfsTer?) c.5672_5673dup (p.Val1892LysfsTer?) | gnomAD v4 |
12 | g.51807125A= | CA2036194662 | SCN8A | c.5639A= (p.Lys1880=) c.5516A= (p.Lys1839=) c.5672A= (p.Lys1891=) | |
12 | g.51807125A>C | CA384888258 | SCN8A | c.5639A>C (p.Lys1880Thr) c.5516A>C (p.Lys1839Thr) c.5672A>C (p.Lys1891Thr) | ClinVar dbSNP |
12 | g.51807125A>G | CA384888260 | SCN8A | c.5639A>G (p.Lys1880Arg) c.5516A>G (p.Lys1839Arg) c.5672A>G (p.Lys1891Arg) | |
12 | g.51807125A>T | CA384888262 | SCN8A | c.5639A>T (p.Lys1880Ile) c.5516A>T (p.Lys1839Ile) c.5672A>T (p.Lys1891Ile) | |
12 | g.51807126A= | CA2036194673 | SCN8A | c.5640A= (p.Lys1880=) c.5517A= (p.Lys1839=) c.5673A= (p.Lys1891=) | |
12 | g.51807126A>C | CA384888264 | SCN8A | c.5640A>C (p.Lys1880Asn) c.5517A>C (p.Lys1839Asn) c.5673A>C (p.Lys1891Asn) | ClinVar dbSNP |
12 | g.51807126A>G | CA480062129 | SCN8A | c.5640A>G (p.Lys1880=) c.5517A>G (p.Lys1839=) c.5673A>G (p.Lys1891=) | gnomAD v4 |
12 | g.51807126A>T | CA384888267 | SCN8A | c.5640A>T (p.Lys1880Asn) c.5517A>T (p.Lys1839Asn) c.5673A>T (p.Lys1891Asn) | |
12 | g.51807127G>A | CA384888270 | SCN8A | c.5641G>A (p.Val1881Met) c.5518G>A (p.Val1840Met) c.5674G>A (p.Val1892Met) | |
12 | g.51807127G>C | CA384888274 | SCN8A | c.5641G>C (p.Val1881Leu) c.5518G>C (p.Val1840Leu) c.5674G>C (p.Val1892Leu) | |
12 | g.51807127G>T | CA384888276 | SCN8A | c.5641G>T (p.Val1881Leu) c.5518G>T (p.Val1840Leu) c.5674G>T (p.Val1892Leu) | |
12 | g.51807128T>A | CA384888280 | SCN8A | c.5642T>A (p.Val1881Glu) c.5519T>A (p.Val1840Glu) c.5675T>A (p.Val1892Glu) | |
12 | g.51807128T>C | CA384888282 | SCN8A | c.5642T>C (p.Val1881Ala) c.5519T>C (p.Val1840Ala) c.5675T>C (p.Val1892Ala) | ClinVar gnomAD v4 |
12 | g.51807128T>G | CA384888278 | SCN8A | c.5642T>G (p.Val1881Gly) c.5519T>G (p.Val1840Gly) c.5675T>G (p.Val1892Gly) | |
12 | g.51807129G>A | CA480062134 | SCN8A | c.5643G>A (p.Val1881=) c.5520G>A (p.Val1840=) c.5676G>A (p.Val1892=) | |
12 | g.51807129G>C | CA480062136 | SCN8A | c.5643G>C (p.Val1881=) c.5520G>C (p.Val1840=) c.5676G>C (p.Val1892=) | |
12 | g.51807129G>T | CA480062138 | SCN8A | c.5643G>T (p.Val1881=) c.5520G>T (p.Val1840=) c.5676G>T (p.Val1892=) | |
12 | g.51807130T>A | CA384888284 | SCN8A | c.5644T>A (p.Ser1882Thr) c.5521T>A (p.Ser1841Thr) c.5677T>A (p.Ser1893Thr) | |
12 | g.51807130T>C | CA384888285 | SCN8A | c.5644T>C (p.Ser1882Pro) c.5521T>C (p.Ser1841Pro) c.5677T>C (p.Ser1893Pro) | ClinVar dbSNP |
12 | g.51807130T>G | CA384888286 | SCN8A | c.5644T>G (p.Ser1882Ala) c.5521T>G (p.Ser1841Ala) c.5677T>G (p.Ser1893Ala) | |
12 | g.51807131C>A | CA384888287 | SCN8A | c.5645C>A (p.Ser1882Tyr) c.5522C>A (p.Ser1841Tyr) c.5678C>A (p.Ser1893Tyr) | ClinVar dbSNP |
12 | g.51807131C= | CA2036194688 | SCN8A | c.5645C= (p.Ser1882=) c.5522C= (p.Ser1841=) c.5678C= (p.Ser1893=) | |
12 | g.51807131C>G | CA384888288 | SCN8A | c.5645C>G (p.Ser1882Cys) c.5522C>G (p.Ser1841Cys) c.5678C>G (p.Ser1893Cys) | |
12 | g.51807131C>T | CA384888291 | SCN8A | c.5645C>T (p.Ser1882Phe) c.5522C>T (p.Ser1841Phe) c.5678C>T (p.Ser1893Phe) | ClinVar |
12 | g.51807132T>A | CA480062146 | SCN8A | c.5646T>A (p.Ser1882=) c.5523T>A (p.Ser1841=) c.5679T>A (p.Ser1893=) | |
12 | g.51807132T>C | CA480062147 | SCN8A | c.5646T>C (p.Ser1882=) c.5523T>C (p.Ser1841=) c.5679T>C (p.Ser1893=) | |
12 | g.51807132T>G | CA480062148 | SCN8A | c.5646T>G (p.Ser1882=) c.5523T>G (p.Ser1841=) c.5679T>G (p.Ser1893=) |