Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806788A= | CA2036193753 | SCN8A | c.5302A= (p.Asn1768=) c.3366A= c.5179A= (p.Asn1727=) c.5335A= (p.Asn1779=) | |
12 | g.51806788A>C | CA384885227 | SCN8A | c.5302A>C (p.Asn1768His) c.3366A>C c.5179A>C (p.Asn1727His) c.5335A>C (p.Asn1779His) | |
12 | g.51806788A>G | CA128948 | SCN8A | c.5302A>G (p.Asn1768Asp) c.3366A>G c.5179A>G (p.Asn1727Asp) c.5335A>G (p.Asn1779Asp) | ClinVar dbSNP |
12 | g.51806788A>T | CA384885228 | SCN8A | c.5302A>T (p.Asn1768Tyr) c.3366A>T c.5179A>T (p.Asn1727Tyr) c.5335A>T (p.Asn1779Tyr) | |
12 | g.51806789A>C | CA384885229 | SCN8A | c.5303A>C (p.Asn1768Thr) c.3367A>C c.5180A>C (p.Asn1727Thr) c.5336A>C (p.Asn1779Thr) | |
12 | g.51806789A>G | CA384885230 | SCN8A | c.5303A>G (p.Asn1768Ser) c.3367A>G c.5180A>G (p.Asn1727Ser) c.5336A>G (p.Asn1779Ser) | |
12 | g.51806789A>T | CA384885231 | SCN8A | c.5303A>T (p.Asn1768Ile) c.3367A>T c.5180A>T (p.Asn1727Ile) c.5336A>T (p.Asn1779Ile) | |
12 | g.51806790C>A | CA384885233 | SCN8A | c.5304C>A (p.Asn1768Lys) c.3368C>A c.5181C>A (p.Asn1727Lys) c.5337C>A (p.Asn1779Lys) | |
12 | g.51806790C= | CA2036193763 | SCN8A | c.5304C= (p.Asn1768=) c.3368C= c.5181C= (p.Asn1727=) c.5337C= (p.Asn1779=) | |
12 | g.51806790C>G | CA384885232 | SCN8A | c.5304C>G (p.Asn1768Lys) c.3368C>G c.5181C>G (p.Asn1727Lys) c.5337C>G (p.Asn1779Lys) | |
12 | g.51806790C>T | CA6571908 | SCN8A | c.5304C>T (p.Asn1768=) c.3368C>T c.5181C>T (p.Asn1727=) c.5337C>T (p.Asn1779=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806791T>A | CA384885234 | SCN8A | c.5305T>A (p.Phe1769Ile) c.3369T>A c.5182T>A (p.Phe1728Ile) c.5338T>A (p.Phe1780Ile) | |
12 | g.51806791T>C | CA384885235 | SCN8A | c.5305T>C (p.Phe1769Leu) c.3369T>C c.5182T>C (p.Phe1728Leu) c.5338T>C (p.Phe1780Leu) | ClinVar dbSNP |
12 | g.51806791T>G | CA384885236 | SCN8A | c.5305T>G (p.Phe1769Val) c.3369T>G c.5182T>G (p.Phe1728Val) c.5338T>G (p.Phe1780Val) | |
12 | g.51806792T>A | CA384885237 | SCN8A | c.5306T>A (p.Phe1769Tyr) c.3370T>A c.5183T>A (p.Phe1728Tyr) c.5339T>A (p.Phe1780Tyr) | |
12 | g.51806792T>C | CA384885238 | SCN8A | c.5306T>C (p.Phe1769Ser) c.3370T>C c.5183T>C (p.Phe1728Ser) c.5339T>C (p.Phe1780Ser) | |
12 | g.51806792T>G | CA384885239 | SCN8A | c.5306T>G (p.Phe1769Cys) c.3370T>G c.5183T>G (p.Phe1728Cys) c.5339T>G (p.Phe1780Cys) | ClinVar |
12 | g.51806793C>A | CA384885240 | SCN8A | c.5307C>A (p.Phe1769Leu) c.3371C>A c.5184C>A (p.Phe1728Leu) c.5340C>A (p.Phe1780Leu) | ClinVar |
12 | g.51806793C>G | CA384885241 | SCN8A | c.5307C>G (p.Phe1769Leu) c.3371C>G c.5184C>G (p.Phe1728Leu) c.5340C>G (p.Phe1780Leu) | |
12 | g.51806793C>T | CA480061997 | SCN8A | c.5307C>T (p.Phe1769=) c.3371C>T c.5184C>T (p.Phe1728=) c.5340C>T (p.Phe1780=) | |
12 | g.51806794A>C | CA384885245 | SCN8A | c.5308A>C (p.Ser1770Arg) c.3372A>C c.5185A>C (p.Ser1729Arg) c.5341A>C (p.Ser1781Arg) | |
12 | g.51806794A>G | CA384885246 | SCN8A | c.5308A>G (p.Ser1770Gly) c.3372A>G c.5185A>G (p.Ser1729Gly) c.5341A>G (p.Ser1781Gly) | |
12 | g.51806794A>T | CA384885248 | SCN8A | c.5308A>T (p.Ser1770Cys) c.3372A>T c.5185A>T (p.Ser1729Cys) c.5341A>T (p.Ser1781Cys) | |
12 | g.51806795G>A | CA384885253 | SCN8A | c.5309G>A (p.Ser1770Asn) c.3373G>A c.5186G>A (p.Ser1729Asn) c.5342G>A (p.Ser1781Asn) | |
12 | g.51806795G>C | CA384885255 | SCN8A | c.5309G>C (p.Ser1770Thr) c.3373G>C c.5186G>C (p.Ser1729Thr) c.5342G>C (p.Ser1781Thr) | |
12 | g.51806795G>T | CA384885251 | SCN8A | c.5309G>T (p.Ser1770Ile) c.3373G>T c.5186G>T (p.Ser1729Ile) c.5342G>T (p.Ser1781Ile) | |
12 | g.51806796T>A | CA384885260 | SCN8A | c.5310T>A (p.Ser1770Arg) c.3374T>A c.5187T>A (p.Ser1729Arg) c.5343T>A (p.Ser1781Arg) | |
12 | g.51806796T>C | CA480062003 | SCN8A | c.5310T>C (p.Ser1770=) c.3374T>C c.5187T>C (p.Ser1729=) c.5343T>C (p.Ser1781=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806796T>G | CA384885258 | SCN8A | c.5310T>G (p.Ser1770Arg) c.3374T>G c.5187T>G (p.Ser1729Arg) c.5343T>G (p.Ser1781Arg) | |
12 | g.51806796T= | CA2036193777 | SCN8A | c.5310T= (p.Ser1770=) c.3374T= c.5187T= (p.Ser1729=) c.5343T= (p.Ser1781=) | |
12 | g.51806797G>A | CA384885264 | SCN8A | c.5311G>A (p.Val1771Ile) c.3375G>A c.5188G>A (p.Val1730Ile) c.5344G>A (p.Val1782Ile) | ClinVar |
12 | g.51806797G>C | CA384885266 | SCN8A | c.5311G>C (p.Val1771Leu) c.3375G>C c.5188G>C (p.Val1730Leu) c.5344G>C (p.Val1782Leu) | |
12 | g.51806797G>T | CA384885267 | SCN8A | c.5311G>T (p.Val1771Leu) c.3375G>T c.5188G>T (p.Val1730Leu) c.5344G>T (p.Val1782Leu) | |
12 | g.51806798T>A | CA384885268 | SCN8A | c.5312T>A (p.Val1771Glu) c.3376T>A c.5189T>A (p.Val1730Glu) c.5345T>A (p.Val1782Glu) | |
12 | g.51806798T>C | CA384885269 | SCN8A | c.5312T>C (p.Val1771Ala) c.3376T>C c.5189T>C (p.Val1730Ala) c.5345T>C (p.Val1782Ala) | |
12 | g.51806798T>G | CA384885271 | SCN8A | c.5312T>G (p.Val1771Gly) c.3376T>G c.5189T>G (p.Val1730Gly) c.5345T>G (p.Val1782Gly) | |
12 | g.51806799A= | CA2036193779 | SCN8A | c.5313A= (p.Val1771=) c.3377A= c.5190A= (p.Val1730=) c.5346A= (p.Val1782=) | |
12 | g.51806799A>C | CA480062005 | SCN8A | c.5313A>C (p.Val1771=) c.3377A>C c.5190A>C (p.Val1730=) c.5346A>C (p.Val1782=) | ClinVar dbSNP |
12 | g.51806799A>G | CA236327585 | SCN8A | c.5313A>G (p.Val1771=) c.3377A>G c.5190A>G (p.Val1730=) c.5346A>G (p.Val1782=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806799A>T | CA480062006 | SCN8A | c.5313A>T (p.Val1771=) c.3377A>T c.5190A>T (p.Val1730=) c.5346A>T (p.Val1782=) | |
12 | g.51806800G>A | CA384885272 | SCN8A | c.5314G>A (p.Ala1772Thr) c.3378G>A c.5191G>A (p.Ala1731Thr) c.5347G>A (p.Ala1783Thr) | |
12 | g.51806800G>C | CA384885274 | SCN8A | c.5314G>C (p.Ala1772Pro) c.3378G>C c.5191G>C (p.Ala1731Pro) c.5347G>C (p.Ala1783Pro) | |
12 | g.51806800G>T | CA384885276 | SCN8A | c.5314G>T (p.Ala1772Ser) c.3378G>T c.5191G>T (p.Ala1731Ser) c.5347G>T (p.Ala1783Ser) | |
12 | g.51806801C>A | CA384885279 | SCN8A | c.5315C>A (p.Ala1772Asp) c.3379C>A c.5192C>A (p.Ala1731Asp) c.5348C>A (p.Ala1783Asp) | ClinVar |
12 | g.51806801C>G | CA384885281 | SCN8A | c.5315C>G (p.Ala1772Gly) c.3379C>G c.5192C>G (p.Ala1731Gly) c.5348C>G (p.Ala1783Gly) | |
12 | g.51806801C>T | CA384885282 | SCN8A | c.5315C>T (p.Ala1772Val) c.3379C>T c.5192C>T (p.Ala1731Val) c.5348C>T (p.Ala1783Val) | |
12 | g.51806802C>A | CA480062009 | SCN8A | c.5316C>A (p.Ala1772=) c.3380C>A c.5193C>A (p.Ala1731=) c.5349C>A (p.Ala1783=) | |
12 | g.51806802C>G | CA480062011 | SCN8A | c.5316C>G (p.Ala1772=) c.3380C>G c.5193C>G (p.Ala1731=) c.5349C>G (p.Ala1783=) | |
12 | g.51806802C>T | CA480062012 | SCN8A | c.5316C>T (p.Ala1772=) c.3380C>T c.5193C>T (p.Ala1731=) c.5349C>T (p.Ala1783=) | |
12 | g.51806803A>C | CA384885283 | SCN8A | c.5317A>C (p.Thr1773Pro) c.3381A>C c.5194A>C (p.Thr1732Pro) c.5350A>C (p.Thr1784Pro) |