Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806747T>A | CA384885037 | SCN8A | c.5261T>A (p.Phe1754Tyr) c.3325T>A c.5138T>A (p.Phe1713Tyr) c.5294T>A (p.Phe1765Tyr) | |
12 | g.51806747T>C | CA384885040 | SCN8A | c.5261T>C (p.Phe1754Ser) c.3325T>C c.5138T>C (p.Phe1713Ser) c.5294T>C (p.Phe1765Ser) | |
12 | g.51806747T>G | CA384885042 | SCN8A | c.5261T>G (p.Phe1754Cys) c.3325T>G c.5138T>G (p.Phe1713Cys) c.5294T>G (p.Phe1765Cys) | |
12 | g.51806748C>A | CA384885045 | SCN8A | c.5262C>A (p.Phe1754Leu) c.3326C>A c.5139C>A (p.Phe1713Leu) c.5295C>A (p.Phe1765Leu) | |
12 | g.51806748C>G | CA384885046 | SCN8A | c.5262C>G (p.Phe1754Leu) c.3326C>G c.5139C>G (p.Phe1713Leu) c.5295C>G (p.Phe1765Leu) | |
12 | g.51806748C>T | CA480061904 | SCN8A | c.5262C>T (p.Phe1754=) c.3326C>T c.5139C>T (p.Phe1713=) c.5295C>T (p.Phe1765=) | |
12 | g.51806749C>A | CA384885047 | SCN8A | c.5263C>A (p.Leu1755Ile) c.3327C>A c.5140C>A (p.Leu1714Ile) c.5296C>A (p.Leu1766Ile) | |
12 | g.51806749C>G | CA384885050 | SCN8A | c.5263C>G (p.Leu1755Val) c.3327C>G c.5140C>G (p.Leu1714Val) c.5296C>G (p.Leu1766Val) | |
12 | g.51806749C>T | CA480061905 | SCN8A | c.5263C>T (p.Leu1755=) c.3327C>T c.5140C>T (p.Leu1714=) c.5296C>T (p.Leu1766=) | |
12 | g.51806750T>A | CA384885054 | SCN8A | c.5264T>A (p.Leu1755Gln) c.3328T>A c.5141T>A (p.Leu1714Gln) c.5297T>A (p.Leu1766Gln) | |
12 | g.51806750T>C | CA384885057 | SCN8A | c.5264T>C (p.Leu1755Pro) c.3328T>C c.5141T>C (p.Leu1714Pro) c.5297T>C (p.Leu1766Pro) | |
12 | g.51806750T>G | CA384885061 | SCN8A | c.5264T>G (p.Leu1755Arg) c.3328T>G c.5141T>G (p.Leu1714Arg) c.5297T>G (p.Leu1766Arg) | |
12 | g.51806751A= | CA2036193621 | SCN8A | c.5265A= (p.Leu1755=) c.3329A= c.5142A= (p.Leu1714=) c.5298A= (p.Leu1766=) | |
12 | g.51806751A>C | CA480061907 | SCN8A | c.5265A>C (p.Leu1755=) c.3329A>C c.5142A>C (p.Leu1714=) c.5298A>C (p.Leu1766=) | |
12 | g.51806751A>G | CA480061908 | SCN8A | c.5265A>G (p.Leu1755=) c.3329A>G c.5142A>G (p.Leu1714=) c.5298A>G (p.Leu1766=) | ClinVar dbSNP gnomAD v4 |
12 | g.51806751A>T | CA480061909 | SCN8A | c.5265A>T (p.Leu1755=) c.3329A>T c.5142A>T (p.Leu1714=) c.5298A>T (p.Leu1766=) | |
12 | g.51806752A= | CA2036193628 | SCN8A | c.5266A= (p.Ile1756=) c.3330A= c.5143A= (p.Ile1715=) c.5299A= (p.Ile1767=) | |
12 | g.51806752A>C | CA384885070 | SCN8A | c.5266A>C (p.Ile1756Leu) c.3330A>C c.5143A>C (p.Ile1715Leu) c.5299A>C (p.Ile1767Leu) | |
12 | g.51806752A>G | CA384885066 | SCN8A | c.5266A>G (p.Ile1756Val) c.3330A>G c.5143A>G (p.Ile1715Val) c.5299A>G (p.Ile1767Val) | ClinVar dbSNP |
12 | g.51806752A>T | CA384885068 | SCN8A | c.5266A>T (p.Ile1756Phe) c.3330A>T c.5143A>T (p.Ile1715Phe) c.5299A>T (p.Ile1767Phe) | |
12 | g.51806753T>A | CA384885076 | SCN8A | c.5267T>A (p.Ile1756Asn) c.3331T>A c.5144T>A (p.Ile1715Asn) c.5300T>A (p.Ile1767Asn) | |
12 | g.51806753T>C | CA384885080 | SCN8A | c.5267T>C (p.Ile1756Thr) c.3331T>C c.5144T>C (p.Ile1715Thr) c.5300T>C (p.Ile1767Thr) | |
12 | g.51806753T>G | CA384885081 | SCN8A | c.5267T>G (p.Ile1756Ser) c.3331T>G c.5144T>G (p.Ile1715Ser) c.5300T>G (p.Ile1767Ser) | ClinVar |
12 | g.51806754T>A | CA480061916 | SCN8A | c.5268T>A (p.Ile1756=) c.3332T>A c.5145T>A (p.Ile1715=) c.5301T>A (p.Ile1767=) | |
12 | g.51806754T>C | CA480061917 | SCN8A | c.5268T>C (p.Ile1756=) c.3332T>C c.5145T>C (p.Ile1715=) c.5301T>C (p.Ile1767=) | |
12 | g.51806754T>G | CA384885084 | SCN8A | c.5268T>G (p.Ile1756Met) c.3332T>G c.5145T>G (p.Ile1715Met) c.5301T>G (p.Ile1767Met) | |
12 | g.51806755G>A | CA384885087 | SCN8A | c.5269G>A (p.Val1757Ile) c.3333G>A c.5146G>A (p.Val1716Ile) c.5302G>A (p.Val1768Ile) | ClinVar dbSNP |
12 | g.51806755G>C | CA384885090 | SCN8A | c.5269G>C (p.Val1757Leu) c.3333G>C c.5146G>C (p.Val1716Leu) c.5302G>C (p.Val1768Leu) | |
12 | g.51806755G= | CA2036193639 | SCN8A | c.5269G= (p.Val1757=) c.3333G= c.5146G= (p.Val1716=) c.5302G= (p.Val1768=) | |
12 | g.51806755G>T | CA384885093 | SCN8A | c.5269G>T (p.Val1757Phe) c.3333G>T c.5146G>T (p.Val1716Phe) c.5302G>T (p.Val1768Phe) | |
12 | g.51806756T>A | CA384885096 | SCN8A | c.5270T>A (p.Val1757Asp) c.3334T>A c.5147T>A (p.Val1716Asp) c.5303T>A (p.Val1768Asp) | ClinVar dbSNP |
12 | g.51806756T>C | CA384885110 | SCN8A | c.5270T>C (p.Val1757Ala) c.3334T>C c.5147T>C (p.Val1716Ala) c.5303T>C (p.Val1768Ala) | |
12 | g.51806756T>G | CA384885112 | SCN8A | c.5270T>G (p.Val1757Gly) c.3334T>G c.5147T>G (p.Val1716Gly) c.5303T>G (p.Val1768Gly) | |
12 | g.51806756T= | CA2036193656 | SCN8A | c.5270T= (p.Val1757=) c.3334T= c.5147T= (p.Val1716=) c.5303T= (p.Val1768=) | |
12 | g.51806757C>A | CA480061922 | SCN8A | c.5271C>A (p.Val1757=) c.3335C>A c.5148C>A (p.Val1716=) c.5304C>A (p.Val1768=) | |
12 | g.51806757C= | CA2036193665 | SCN8A | c.5271C= (p.Val1757=) c.3335C= c.5148C= (p.Val1716=) c.5304C= (p.Val1768=) | |
12 | g.51806757C>G | CA480061923 | SCN8A | c.5271C>G (p.Val1757=) c.3335C>G c.5148C>G (p.Val1716=) c.5304C>G (p.Val1768=) | |
12 | g.51806757C>T | CA6571904 | SCN8A | c.5271C>T (p.Val1757=) c.3335C>T c.5148C>T (p.Val1716=) c.5304C>T (p.Val1768=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51806758G>A | CA384885121 | SCN8A | c.5272G>A (p.Val1758Met) c.3336G>A c.5149G>A (p.Val1717Met) c.5305G>A (p.Val1769Met) | ClinVar dbSNP gnomAD v4 |
12 | g.51806758G>C | CA384885124 | SCN8A | c.5272G>C (p.Val1758Leu) c.3336G>C c.5149G>C (p.Val1717Leu) c.5305G>C (p.Val1769Leu) | |
12 | g.51806758G= | CA2036193674 | SCN8A | c.5272G= (p.Val1758=) c.3336G= c.5149G= (p.Val1717=) c.5305G= (p.Val1769=) | |
12 | g.51806758G>T | CA384885116 | SCN8A | c.5272G>T (p.Val1758Leu) c.3336G>T c.5149G>T (p.Val1717Leu) c.5305G>T (p.Val1769Leu) | |
12 | g.51806759T>A | CA384885131 | SCN8A | c.5273T>A (p.Val1758Glu) c.3337T>A c.5150T>A (p.Val1717Glu) c.5306T>A (p.Val1769Glu) | |
12 | g.51806759T>C | CA384885133 | SCN8A | c.5273T>C (p.Val1758Ala) c.3337T>C c.5150T>C (p.Val1717Ala) c.5306T>C (p.Val1769Ala) | ClinVar |
12 | g.51806759T>G | CA384885134 | SCN8A | c.5273T>G (p.Val1758Gly) c.3337T>G c.5150T>G (p.Val1717Gly) c.5306T>G (p.Val1769Gly) | |
12 | g.51806760G>A | CA480061929 | SCN8A | c.5274G>A (p.Val1758=) c.3338G>A c.5151G>A (p.Val1717=) c.5307G>A (p.Val1769=) | |
12 | g.51806760G>C | CA480061931 | SCN8A | c.5274G>C (p.Val1758=) c.3338G>C c.5151G>C (p.Val1717=) c.5307G>C (p.Val1769=) | |
12 | g.51806760G>T | CA480061930 | SCN8A | c.5274G>T (p.Val1758=) c.3338G>T c.5151G>T (p.Val1717=) c.5307G>T (p.Val1769=) | |
12 | g.51806761A>C | CA384885136 | SCN8A | c.5275A>C (p.Asn1759His) c.3339A>C c.5152A>C (p.Asn1718His) c.5308A>C (p.Asn1770His) | |
12 | g.51806761A>G | CA384885137 | SCN8A | c.5275A>G (p.Asn1759Asp) c.3339A>G c.5152A>G (p.Asn1718Asp) c.5308A>G (p.Asn1770Asp) | |
12 | g.51806761A>T | CA384885138 | SCN8A | c.5275A>T (p.Asn1759Tyr) c.3339A>T c.5152A>T (p.Asn1718Tyr) c.5308A>T (p.Asn1770Tyr) | |
12 | g.51806762A= | CA2036193679 | SCN8A | c.5276A= (p.Asn1759=) c.3340A= c.5153A= (p.Asn1718=) c.5309A= (p.Asn1770=) | |
12 | g.51806762A>C | CA384885145 | SCN8A | c.5276A>C (p.Asn1759Thr) c.3340A>C c.5153A>C (p.Asn1718Thr) c.5309A>C (p.Asn1770Thr) | |
12 | g.51806762A>G | CA354191 | SCN8A | c.5276A>G (p.Asn1759Ser) c.3340A>G c.5153A>G (p.Asn1718Ser) c.5309A>G (p.Asn1770Ser) | ClinVar dbSNP |
12 | g.51806762A>T | CA384885143 | SCN8A | c.5276A>T (p.Asn1759Ile) c.3340A>T c.5153A>T (p.Asn1718Ile) c.5309A>T (p.Asn1770Ile) | |
12 | g.51806763C>A | CA384885150 | SCN8A | c.5277C>A (p.Asn1759Lys) c.3341C>A c.5154C>A (p.Asn1718Lys) c.5310C>A (p.Asn1770Lys) | |
12 | g.51806763C>G | CA384885151 | SCN8A | c.5277C>G (p.Asn1759Lys) c.3341C>G c.5154C>G (p.Asn1718Lys) c.5310C>G (p.Asn1770Lys) | |
12 | g.51806763C>T | CA480061934 | SCN8A | c.5277C>T (p.Asn1759=) c.3341C>T c.5154C>T (p.Asn1718=) c.5310C>T (p.Asn1770=) | |
12 | g.51806764A= | CA2036193689 | SCN8A | c.5278A= (p.Met1760=) c.3342A= c.5155A= (p.Met1719=) c.5311A= (p.Met1771=) | |
12 | g.51806764A>C | CA384885152 | SCN8A | c.5278A>C (p.Met1760Leu) c.3342A>C c.5155A>C (p.Met1719Leu) c.5311A>C (p.Met1771Leu) | |
12 | g.51806764A>G | CA384885154 | SCN8A | c.5278A>G (p.Met1760Val) c.3342A>G c.5155A>G (p.Met1719Val) c.5311A>G (p.Met1771Val) | ClinVar dbSNP |
12 | g.51806764A>T | CA384885156 | SCN8A | c.5278A>T (p.Met1760Leu) c.3342A>T c.5155A>T (p.Met1719Leu) c.5311A>T (p.Met1771Leu) | |
12 | g.51806765T>A | CA384885157 | SCN8A | c.5279T>A (p.Met1760Lys) c.3343T>A c.5156T>A (p.Met1719Lys) c.5312T>A (p.Met1771Lys) | |
12 | g.51806765T>C | CA384885161 | SCN8A | c.5279T>C (p.Met1760Thr) c.3343T>C c.5156T>C (p.Met1719Thr) c.5312T>C (p.Met1771Thr) | ClinVar dbSNP |
12 | g.51806765T>G | CA384885158 | SCN8A | c.5279T>G (p.Met1760Arg) c.3343T>G c.5156T>G (p.Met1719Arg) c.5312T>G (p.Met1771Arg) | |
12 | g.51806765T= | CA2036193699 | SCN8A | c.5279T= (p.Met1760=) c.3343T= c.5156T= (p.Met1719=) c.5312T= (p.Met1771=) | |
12 | g.51806766G>A | CA384885163 | SCN8A | c.5280G>A (p.Met1760Ile) c.3344G>A c.5157G>A (p.Met1719Ile) c.5313G>A (p.Met1771Ile) | ClinVar dbSNP |
12 | g.51806766G>C | CA384885164 | SCN8A | c.5280G>C (p.Met1760Ile) c.3344G>C c.5157G>C (p.Met1719Ile) c.5313G>C (p.Met1771Ile) | ClinVar COSMIC COSMIC |
12 | g.51806766G= | CA2036193711 | SCN8A | c.5280G= (p.Met1760=) c.3344G= c.5157G= (p.Met1719=) c.5313G= (p.Met1771=) | |
12 | g.51806766G>T | CA384885165 | SCN8A | c.5280G>T (p.Met1760Ile) c.3344G>T c.5157G>T (p.Met1719Ile) c.5313G>T (p.Met1771Ile) | |
12 | g.51806767T>A | CA384885168 | SCN8A | c.5281T>A (p.Tyr1761Asn) c.3345T>A c.5158T>A (p.Tyr1720Asn) c.5314T>A (p.Tyr1772Asn) | |
12 | g.51806767T>C | CA384885170 | SCN8A | c.5281T>C (p.Tyr1761His) c.3345T>C c.5158T>C (p.Tyr1720His) c.5314T>C (p.Tyr1772His) | |
12 | g.51806767T>G | CA384885171 | SCN8A | c.5281T>G (p.Tyr1761Asp) c.3345T>G c.5158T>G (p.Tyr1720Asp) c.5314T>G (p.Tyr1772Asp) | |
12 | g.51806768A>C | CA384885172 | SCN8A | c.5282A>C (p.Tyr1761Ser) c.3346A>C c.5159A>C (p.Tyr1720Ser) c.5315A>C (p.Tyr1772Ser) | |
12 | g.51806768A>G | CA384885173 | SCN8A | c.5282A>G (p.Tyr1761Cys) c.3346A>G c.5159A>G (p.Tyr1720Cys) c.5315A>G (p.Tyr1772Cys) | gnomAD v4 |
12 | g.51806768A>T | CA384885174 | SCN8A | c.5282A>T (p.Tyr1761Phe) c.3346A>T c.5159A>T (p.Tyr1720Phe) c.5315A>T (p.Tyr1772Phe) | |
12 | g.51806769C>A | CA384885177 | SCN8A | c.5283C>A (p.Tyr1761Ter) c.3347C>A c.5160C>A (p.Tyr1720Ter) c.5316C>A (p.Tyr1772Ter) | |
12 | g.51806769C= | CA2036193718 | SCN8A | c.5283C= (p.Tyr1761=) c.3347C= c.5160C= (p.Tyr1720=) c.5316C= (p.Tyr1772=) | |
12 | g.51806769C>G | CA384885179 | SCN8A | c.5283C>G (p.Tyr1761Ter) c.3347C>G c.5160C>G (p.Tyr1720Ter) c.5316C>G (p.Tyr1772Ter) | |
12 | g.51806769C>T | CA6571905 | SCN8A | c.5283C>T (p.Tyr1761=) c.3347C>T c.5160C>T (p.Tyr1720=) c.5316C>T (p.Tyr1772=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806770A>C | CA384885184 | SCN8A | c.5284A>C (p.Ile1762Leu) c.3348A>C c.5161A>C (p.Ile1721Leu) c.5317A>C (p.Ile1773Leu) | ClinVar |
12 | g.51806770A>G | CA384885188 | SCN8A | c.5284A>G (p.Ile1762Val) c.3348A>G c.5161A>G (p.Ile1721Val) c.5317A>G (p.Ile1773Val) | ClinVar |
12 | g.51806770A>T | CA384885186 | SCN8A | c.5284A>T (p.Ile1762Phe) c.3348A>T c.5161A>T (p.Ile1721Phe) c.5317A>T (p.Ile1773Phe) | ClinVar dbSNP |
12 | g.51806771T>A | CA384885191 | SCN8A | c.5285T>A (p.Ile1762Asn) c.3349T>A c.5162T>A (p.Ile1721Asn) c.5318T>A (p.Ile1773Asn) | |
12 | g.51806771T>C | CA384885193 | SCN8A | c.5285T>C (p.Ile1762Thr) c.3349T>C c.5162T>C (p.Ile1721Thr) c.5318T>C (p.Ile1773Thr) | |
12 | g.51806771T>G | CA384885192 | SCN8A | c.5285T>G (p.Ile1762Ser) c.3349T>G c.5162T>G (p.Ile1721Ser) c.5318T>G (p.Ile1773Ser) | |
12 | g.51806772T>A | CA480061948 | SCN8A | c.5286T>A (p.Ile1762=) c.3350T>A c.5163T>A (p.Ile1721=) c.5319T>A (p.Ile1773=) | |
12 | g.51806772T>C | CA480061950 | SCN8A | c.5286T>C (p.Ile1762=) c.3350T>C c.5163T>C (p.Ile1721=) c.5319T>C (p.Ile1773=) | |
12 | g.51806772T>G | CA384885194 | SCN8A | c.5286T>G (p.Ile1762Met) c.3350T>G c.5163T>G (p.Ile1721Met) c.5319T>G (p.Ile1773Met) | |
12 | g.51806773G>A | CA384885195 | SCN8A | c.5287G>A (p.Ala1763Thr) c.3351G>A c.5164G>A (p.Ala1722Thr) c.5320G>A (p.Ala1774Thr) | |
12 | g.51806773G>C | CA384885196 | SCN8A | c.5287G>C (p.Ala1763Pro) c.3351G>C c.5164G>C (p.Ala1722Pro) c.5320G>C (p.Ala1774Pro) | |
12 | g.51806773G>T | CA384885197 | SCN8A | c.5287G>T (p.Ala1763Ser) c.3351G>T c.5164G>T (p.Ala1722Ser) c.5320G>T (p.Ala1774Ser) | |
12 | g.51806774C>A | CA384885198 | SCN8A | c.5288C>A (p.Ala1763Asp) c.3352C>A c.5165C>A (p.Ala1722Asp) c.5321C>A (p.Ala1774Asp) | |
12 | g.51806774C>G | CA384885199 | SCN8A | c.5288C>G (p.Ala1763Gly) c.3352C>G c.5165C>G (p.Ala1722Gly) c.5321C>G (p.Ala1774Gly) | |
12 | g.51806774C>T | CA384885200 | SCN8A | c.5288C>T (p.Ala1763Val) c.3352C>T c.5165C>T (p.Ala1722Val) c.5321C>T (p.Ala1774Val) | |
12 | g.51806775C>A | CA480061956 | SCN8A | c.5289C>A (p.Ala1763=) c.3353C>A c.5166C>A (p.Ala1722=) c.5322C>A (p.Ala1774=) | |
12 | g.51806775C>G | CA480061954 | SCN8A | c.5289C>G (p.Ala1763=) c.3353C>G c.5166C>G (p.Ala1722=) c.5322C>G (p.Ala1774=) | |
12 | g.51806775C>T | CA480061955 | SCN8A | c.5289C>T (p.Ala1763=) c.3353C>T c.5166C>T (p.Ala1722=) c.5322C>T (p.Ala1774=) | gnomAD v4 |
12 | g.51806776A>C | CA384885201 | SCN8A | c.5290A>C (p.Ile1764Leu) c.3354A>C c.5167A>C (p.Ile1723Leu) c.5323A>C (p.Ile1775Leu) | |
12 | g.51806776A>G | CA384885203 | SCN8A | c.5290A>G (p.Ile1764Val) c.3354A>G c.5167A>G (p.Ile1723Val) c.5323A>G (p.Ile1775Val) | |
12 | g.51806776A>T | CA384885202 | SCN8A | c.5290A>T (p.Ile1764Phe) c.3354A>T c.5167A>T (p.Ile1723Phe) c.5323A>T (p.Ile1775Phe) | COSMIC COSMIC |
12 | g.51806777T>A | CA384885204 | SCN8A | c.5291T>A (p.Ile1764Asn) c.3355T>A c.5168T>A (p.Ile1723Asn) c.5324T>A (p.Ile1775Asn) | |
12 | g.51806777T>C | CA236327543 | SCN8A | c.5291T>C (p.Ile1764Thr) c.3355T>C c.5168T>C (p.Ile1723Thr) c.5324T>C (p.Ile1775Thr) | ClinVar dbSNP |
12 | g.51806777T>G | CA384885205 | SCN8A | c.5291T>G (p.Ile1764Ser) c.3355T>G c.5168T>G (p.Ile1723Ser) c.5324T>G (p.Ile1775Ser) | |
12 | g.51806777T= | CA2036193722 | SCN8A | c.5291T= (p.Ile1764=) c.3355T= c.5168T= (p.Ile1723=) c.5324T= (p.Ile1775=) | |
12 | g.51806778C>A | CA480061962 | SCN8A | c.5292C>A (p.Ile1764=) c.3356C>A c.5169C>A (p.Ile1723=) c.5325C>A (p.Ile1775=) | |
12 | g.51806778C>G | CA384885206 | SCN8A | c.5292C>G (p.Ile1764Met) c.3356C>G c.5169C>G (p.Ile1723Met) c.5325C>G (p.Ile1775Met) | |
12 | g.51806778C>T | CA480061964 | SCN8A | c.5292C>T (p.Ile1764=) c.3356C>T c.5169C>T (p.Ile1723=) c.5325C>T (p.Ile1775=) | |
12 | g.51806779A>C | CA384885207 | SCN8A | c.5293A>C (p.Ile1765Leu) c.3357A>C c.5170A>C (p.Ile1724Leu) c.5326A>C (p.Ile1776Leu) | |
12 | g.51806779A>G | CA384885209 | SCN8A | c.5293A>G (p.Ile1765Val) c.3357A>G c.5170A>G (p.Ile1724Val) c.5326A>G (p.Ile1776Val) | |
12 | g.51806779A>T | CA384885208 | SCN8A | c.5293A>T (p.Ile1765Phe) c.3357A>T c.5170A>T (p.Ile1724Phe) c.5326A>T (p.Ile1776Phe) | |
12 | g.51806780T>A | CA384885210 | SCN8A | c.5294T>A (p.Ile1765Asn) c.3358T>A c.5171T>A (p.Ile1724Asn) c.5327T>A (p.Ile1776Asn) | |
12 | g.51806780T>C | CA384885211 | SCN8A | c.5294T>C (p.Ile1765Thr) c.3358T>C c.5171T>C (p.Ile1724Thr) c.5327T>C (p.Ile1776Thr) | |
12 | g.51806780T>G | CA384885212 | SCN8A | c.5294T>G (p.Ile1765Ser) c.3358T>G c.5171T>G (p.Ile1724Ser) c.5327T>G (p.Ile1776Ser) | |
12 | g.51806781C>A | CA480061967 | SCN8A | c.5295C>A (p.Ile1765=) c.3359C>A c.5172C>A (p.Ile1724=) c.5328C>A (p.Ile1776=) | |
12 | g.51806781C= | CA2036193736 | SCN8A | c.5295C= (p.Ile1765=) c.3359C= c.5172C= (p.Ile1724=) c.5328C= (p.Ile1776=) | |
12 | g.51806781C>G | CA384885213 | SCN8A | c.5295C>G (p.Ile1765Met) c.3359C>G c.5172C>G (p.Ile1724Met) c.5328C>G (p.Ile1776Met) | |
12 | g.51806781C>T | CA6571906 | SCN8A | c.5295C>T (p.Ile1765=) c.3359C>T c.5172C>T (p.Ile1724=) c.5328C>T (p.Ile1776=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806782C>A | CA384885214 | SCN8A | c.5296C>A (p.Leu1766Met) c.3360C>A c.5173C>A (p.Leu1725Met) c.5329C>A (p.Leu1777Met) | |
12 | g.51806782C>G | CA384885215 | SCN8A | c.5296C>G (p.Leu1766Val) c.3360C>G c.5173C>G (p.Leu1725Val) c.5329C>G (p.Leu1777Val) | |
12 | g.51806782C>T | CA480061972 | SCN8A | c.5296C>T (p.Leu1766=) c.3360C>T c.5173C>T (p.Leu1725=) c.5329C>T (p.Leu1777=) | |
12 | g.51806783T>A | CA384885216 | SCN8A | c.5297T>A (p.Leu1766Gln) c.3361T>A c.5174T>A (p.Leu1725Gln) c.5330T>A (p.Leu1777Gln) | |
12 | g.51806783T>C | CA384885217 | SCN8A | c.5297T>C (p.Leu1766Pro) c.3361T>C c.5174T>C (p.Leu1725Pro) c.5330T>C (p.Leu1777Pro) | |
12 | g.51806783T>G | CA384885218 | SCN8A | c.5297T>G (p.Leu1766Arg) c.3361T>G c.5174T>G (p.Leu1725Arg) c.5330T>G (p.Leu1777Arg) | ClinVar dbSNP |
12 | g.51806783T= | CA2036193739 | SCN8A | c.5297T= (p.Leu1766=) c.3361T= c.5174T= (p.Leu1725=) c.5330T= (p.Leu1777=) | |
12 | g.51806784G>A | CA6571907 | SCN8A | c.5298G>A (p.Leu1766=) c.3362G>A c.5175G>A (p.Leu1725=) c.5331G>A (p.Leu1777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806784G>C | CA480061975 | SCN8A | c.5298G>C (p.Leu1766=) c.3362G>C c.5175G>C (p.Leu1725=) c.5331G>C (p.Leu1777=) | |
12 | g.51806784G= | CA2036193741 | SCN8A | c.5298G= (p.Leu1766=) c.3362G= c.5175G= (p.Leu1725=) c.5331G= (p.Leu1777=) | |
12 | g.51806784G>T | CA480061976 | SCN8A | c.5298G>T (p.Leu1766=) c.3362G>T c.5175G>T (p.Leu1725=) c.5331G>T (p.Leu1777=) | |
12 | g.51806785G>A | CA384885219 | SCN8A | c.5299G>A (p.Glu1767Lys) c.3363G>A c.5176G>A (p.Glu1726Lys) c.5332G>A (p.Glu1778Lys) | |
12 | g.51806785G>C | CA384885221 | SCN8A | c.5299G>C (p.Glu1767Gln) c.3363G>C c.5176G>C (p.Glu1726Gln) c.5332G>C (p.Glu1778Gln) | |
12 | g.51806785G= | CA2036193746 | SCN8A | c.5299G= (p.Glu1767=) c.3363G= c.5176G= (p.Glu1726=) c.5332G= (p.Glu1778=) | |
12 | g.51806785G>T | CA384885220 | SCN8A | c.5299G>T (p.Glu1767Ter) c.3363G>T c.5176G>T (p.Glu1726Ter) c.5332G>T (p.Glu1778Ter) | dbSNP |
12 | g.51806786A>C | CA384885222 | SCN8A | c.5300A>C (p.Glu1767Ala) c.3364A>C c.5177A>C (p.Glu1726Ala) c.5333A>C (p.Glu1778Ala) | |
12 | g.51806786A>G | CA384885223 | SCN8A | c.5300A>G (p.Glu1767Gly) c.3364A>G c.5177A>G (p.Glu1726Gly) c.5333A>G (p.Glu1778Gly) | |
12 | g.51806786A>T | CA384885224 | SCN8A | c.5300A>T (p.Glu1767Val) c.3364A>T c.5177A>T (p.Glu1726Val) c.5333A>T (p.Glu1778Val) | |
12 | g.51806787G>A | CA480061979 | SCN8A | c.5301G>A (p.Glu1767=) c.3365G>A c.5178G>A (p.Glu1726=) c.5334G>A (p.Glu1778=) | |
12 | g.51806787G>C | CA384885225 | SCN8A | c.5301G>C (p.Glu1767Asp) c.3365G>C c.5178G>C (p.Glu1726Asp) c.5334G>C (p.Glu1778Asp) | |
12 | g.51806787G>T | CA384885226 | SCN8A | c.5301G>T (p.Glu1767Asp) c.3365G>T c.5178G>T (p.Glu1726Asp) c.5334G>T (p.Glu1778Asp) | |
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) | |
12 | g.51806803A>G | CA384885287 | SCN8A | c.5317A>G (p.Thr1773Ala) c.3381A>G c.5194A>G (p.Thr1732Ala) c.5350A>G (p.Thr1784Ala) | |
12 | g.51806803A>T | CA384885284 | SCN8A | c.5317A>T (p.Thr1773Ser) c.3381A>T c.5194A>T (p.Thr1732Ser) c.5350A>T (p.Thr1784Ser) | |
12 | g.51806804C>A | CA384885289 | SCN8A | c.5318C>A (p.Thr1773Lys) c.3382C>A c.5195C>A (p.Thr1732Lys) c.5351C>A (p.Thr1784Lys) | |
12 | g.51806804C>G | CA384885291 | SCN8A | c.5318C>G (p.Thr1773Arg) c.3382C>G c.5195C>G (p.Thr1732Arg) c.5351C>G (p.Thr1784Arg) | |
12 | g.51806804C>T | CA384885294 | SCN8A | c.5318C>T (p.Thr1773Ile) c.3382C>T c.5195C>T (p.Thr1732Ile) c.5351C>T (p.Thr1784Ile) | |
12 | g.51806808_51806819del | CA2695216657 | SCN8A | c.5322_5333del (p.Glu1774_Ala1777del) c.3386_3397del c.5199_5210del (p.Glu1733_Ala1736del) c.5355_5366del (p.Glu1785_Ala1788del) | |
12 | g.51806805A>C | CA480062017 | SCN8A | c.5319A>C (p.Thr1773=) c.3383A>C c.5196A>C (p.Thr1732=) c.5352A>C (p.Thr1784=) | |
12 | g.51806805A>G | CA480062019 | SCN8A | c.5319A>G (p.Thr1773=) c.3383A>G c.5196A>G (p.Thr1732=) c.5352A>G (p.Thr1784=) | |
12 | g.51806805A>T | CA480062020 | SCN8A | c.5319A>T (p.Thr1773=) c.3383A>T c.5196A>T (p.Thr1732=) c.5352A>T (p.Thr1784=) | |
12 | g.51806806G>A | CA384885298 | SCN8A | c.5320G>A (p.Glu1774Lys) c.3384G>A c.5197G>A (p.Glu1733Lys) c.5353G>A (p.Glu1785Lys) | |
12 | g.51806806G>C | CA384885300 | SCN8A | c.5320G>C (p.Glu1774Gln) c.3384G>C c.5197G>C (p.Glu1733Gln) c.5353G>C (p.Glu1785Gln) | |
12 | g.51806806G= | CA2036193784 | SCN8A | c.5320G= (p.Glu1774=) c.3384G= c.5197G= (p.Glu1733=) c.5353G= (p.Glu1785=) | |
12 | g.51806806G>T | CA384885302 | SCN8A | c.5320G>T (p.Glu1774Ter) c.3384G>T c.5197G>T (p.Glu1733Ter) c.5353G>T (p.Glu1785Ter) | dbSNP |
12 | g.51806807A>C | CA384885305 | SCN8A | c.5321A>C (p.Glu1774Ala) c.3385A>C c.5198A>C (p.Glu1733Ala) c.5354A>C (p.Glu1785Ala) | |
12 | g.51806807A>G | CA384885306 | SCN8A | c.5321A>G (p.Glu1774Gly) c.3385A>G c.5198A>G (p.Glu1733Gly) c.5354A>G (p.Glu1785Gly) | |
12 | g.51806807A>T | CA384885307 | SCN8A | c.5321A>T (p.Glu1774Val) c.3385A>T c.5198A>T (p.Glu1733Val) c.5354A>T (p.Glu1785Val) | |
12 | g.51806808G>A | CA480062027 | SCN8A | c.5322G>A (p.Glu1774=) c.3386G>A c.5199G>A (p.Glu1733=) c.5355G>A (p.Glu1785=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806808G>C | CA384885309 | SCN8A | c.5322G>C (p.Glu1774Asp) c.3386G>C c.5199G>C (p.Glu1733Asp) c.5355G>C (p.Glu1785Asp) | |
12 | g.51806808G= | CA2036193794 | SCN8A | c.5322G= (p.Glu1774=) c.3386G= c.5199G= (p.Glu1733=) c.5355G= (p.Glu1785=) | |
12 | g.51806808G>T | CA384885311 | SCN8A | c.5322G>T (p.Glu1774Asp) c.3386G>T c.5199G>T (p.Glu1733Asp) c.5355G>T (p.Glu1785Asp) | |
12 | g.51806809G>A | CA384885316 | SCN8A | c.5323G>A (p.Glu1775Lys) c.3387G>A c.5200G>A (p.Glu1734Lys) c.5356G>A (p.Glu1786Lys) | COSMIC COSMIC |
12 | g.51806809G>C | CA384885319 | SCN8A | c.5323G>C (p.Glu1775Gln) c.3387G>C c.5200G>C (p.Glu1734Gln) c.5356G>C (p.Glu1786Gln) | |
12 | g.51806809G= | CA2036193808 | SCN8A | c.5323G= (p.Glu1775=) c.3387G= c.5200G= (p.Glu1734=) c.5356G= (p.Glu1786=) | |
12 | g.51806809G>T | CA384885315 | SCN8A | c.5323G>T (p.Glu1775Ter) c.3387G>T c.5200G>T (p.Glu1734Ter) c.5356G>T (p.Glu1786Ter) | dbSNP |
12 | g.51806810A>C | CA384885323 | SCN8A | c.5324A>C (p.Glu1775Ala) c.3388A>C c.5201A>C (p.Glu1734Ala) c.5357A>C (p.Glu1786Ala) | |
12 | g.51806810A>G | CA384885325 | SCN8A | c.5324A>G (p.Glu1775Gly) c.3388A>G c.5201A>G (p.Glu1734Gly) c.5357A>G (p.Glu1786Gly) | |
12 | g.51806810A>T | CA384885327 | SCN8A | c.5324A>T (p.Glu1775Val) c.3388A>T c.5201A>T (p.Glu1734Val) c.5357A>T (p.Glu1786Val) | |
12 | g.51806812del | CA2618841628 | SCN8A | c.5326del (p.Ser1776ValfsTer5) c.3390del c.5203del (p.Ser1735ValfsTer5) c.5359del (p.Ser1787ValfsTer5) | gnomAD v4 |
12 | g.51806811A>C | CA384885330 | SCN8A | c.5325A>C (p.Glu1775Asp) c.3389A>C c.5202A>C (p.Glu1734Asp) c.5358A>C (p.Glu1786Asp) | |
12 | g.51806811A>G | CA480062035 | SCN8A | c.5325A>G (p.Glu1775=) c.3389A>G c.5202A>G (p.Glu1734=) c.5358A>G (p.Glu1786=) | |
12 | g.51806811A>T | CA384885332 | SCN8A | c.5325A>T (p.Glu1775Asp) c.3389A>T c.5202A>T (p.Glu1734Asp) c.5358A>T (p.Glu1786Asp) | |
12 | g.51806812A>C | CA384885335 | SCN8A | c.5326A>C (p.Ser1776Arg) c.3390A>C c.5203A>C (p.Ser1735Arg) c.5359A>C (p.Ser1787Arg) | |
12 | g.51806812A>G | CA384885337 | SCN8A | c.5326A>G (p.Ser1776Gly) c.3390A>G c.5203A>G (p.Ser1735Gly) c.5359A>G (p.Ser1787Gly) | |
12 | g.51806812A>T | CA384885338 | SCN8A | c.5326A>T (p.Ser1776Cys) c.3390A>T c.5203A>T (p.Ser1735Cys) c.5359A>T (p.Ser1787Cys) | |
12 | g.51806816_51806830del | CA2739272037 | SCN8A | c.5330_5344del (p.Ala1777_Ser1781del) c.3394_3408del c.5207_5221del (p.Ala1736_Ser1740del) c.5363_5377del (p.Ala1788_Ser1792del) | ClinVar |
12 | g.51806813G>A | CA384885341 | SCN8A | c.5327G>A (p.Ser1776Asn) c.3391G>A c.5204G>A (p.Ser1735Asn) c.5360G>A (p.Ser1787Asn) | |
12 | g.51806813G>C | CA384885343 | SCN8A | c.5327G>C (p.Ser1776Thr) c.3391G>C c.5204G>C (p.Ser1735Thr) c.5360G>C (p.Ser1787Thr) | gnomAD v4 |
12 | g.51806813G>T | CA384885346 | SCN8A | c.5327G>T (p.Ser1776Ile) c.3391G>T c.5204G>T (p.Ser1735Ile) c.5360G>T (p.Ser1787Ile) | |
12 | g.51806814T>A | CA384885349 | SCN8A | c.5328T>A (p.Ser1776Arg) c.3392T>A c.5205T>A (p.Ser1735Arg) c.5361T>A (p.Ser1787Arg) | |
12 | g.51806814T>C | CA480062046 | SCN8A | c.5328T>C (p.Ser1776=) c.3392T>C c.5205T>C (p.Ser1735=) c.5361T>C (p.Ser1787=) | gnomAD v4 |
12 | g.51806814T>G | CA384885351 | SCN8A | c.5328T>G (p.Ser1776Arg) c.3392T>G c.5205T>G (p.Ser1735Arg) c.5361T>G (p.Ser1787Arg) | gnomAD v4 |
12 | g.51806815G>A | CA6571909 | SCN8A | c.5329G>A (p.Ala1777Thr) c.3393G>A c.5206G>A (p.Ala1736Thr) c.5362G>A (p.Ala1788Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806815G>C | CA384885355 | SCN8A | c.5329G>C (p.Ala1777Pro) c.3393G>C c.5206G>C (p.Ala1736Pro) c.5362G>C (p.Ala1788Pro) | |
12 | g.51806815G= | CA2036193819 | SCN8A | c.5329G= (p.Ala1777=) c.3393G= c.5206G= (p.Ala1736=) c.5362G= (p.Ala1788=) | |
12 | g.51806815G>T | CA384885354 | SCN8A | c.5329G>T (p.Ala1777Ser) c.3393G>T c.5206G>T (p.Ala1736Ser) c.5362G>T (p.Ala1788Ser) | |
12 | g.51806816C>A | CA384885358 | SCN8A | c.5330C>A (p.Ala1777Glu) c.3394C>A c.5207C>A (p.Ala1736Glu) c.5363C>A (p.Ala1788Glu) | |
12 | g.51806816C>G | CA384885361 | SCN8A | c.5330C>G (p.Ala1777Gly) c.3394C>G c.5207C>G (p.Ala1736Gly) c.5363C>G (p.Ala1788Gly) | dbSNP |
12 | g.51806816C>T | CA384885363 | SCN8A | c.5330C>T (p.Ala1777Val) c.3394C>T c.5207C>T (p.Ala1736Val) c.5363C>T (p.Ala1788Val) | |
12 | g.51806817A= | CA2036193824 | SCN8A | c.5331A= (p.Ala1777=) c.3395A= c.5208A= (p.Ala1736=) c.5364A= (p.Ala1788=) | |
12 | g.51806817A>C | CA480062054 | SCN8A | c.5331A>C (p.Ala1777=) c.3395A>C c.5208A>C (p.Ala1736=) c.5364A>C (p.Ala1788=) | |
12 | g.51806817A>G | CA480062051 | SCN8A | c.5331A>G (p.Ala1777=) c.3395A>G c.5208A>G (p.Ala1736=) c.5364A>G (p.Ala1788=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806817A>T | CA480062050 | SCN8A | c.5331A>T (p.Ala1777=) c.3395A>T c.5208A>T (p.Ala1736=) c.5364A>T (p.Ala1788=) | |
12 | g.51806818G>A | CA384885367 | SCN8A | c.5332G>A (p.Asp1778Asn) c.3396G>A c.5209G>A (p.Asp1737Asn) c.5365G>A (p.Asp1789Asn) | |
12 | g.51806818G>C | CA384885368 | SCN8A | c.5332G>C (p.Asp1778His) c.3396G>C c.5209G>C (p.Asp1737His) c.5365G>C (p.Asp1789His) | gnomAD v4 |
12 | g.51806818G>T | CA384885371 | SCN8A | c.5332G>T (p.Asp1778Tyr) c.3396G>T c.5209G>T (p.Asp1737Tyr) c.5365G>T (p.Asp1789Tyr) | |
12 | g.51806819A= | CA2036193830 | SCN8A | c.5333A= (p.Asp1778=) c.3397A= c.5210A= (p.Asp1737=) c.5366A= (p.Asp1789=) | |
12 | g.51806819A>C | CA384885374 | SCN8A | c.5333A>C (p.Asp1778Ala) c.3397A>C c.5210A>C (p.Asp1737Ala) c.5366A>C (p.Asp1789Ala) | |
12 | g.51806819A>G | CA384885376 | SCN8A | c.5333A>G (p.Asp1778Gly) c.3397A>G c.5210A>G (p.Asp1737Gly) c.5366A>G (p.Asp1789Gly) | ClinVar dbSNP |
12 | g.51806819A>T | CA384885378 | SCN8A | c.5333A>T (p.Asp1778Val) c.3397A>T c.5210A>T (p.Asp1737Val) c.5366A>T (p.Asp1789Val) | |
12 | g.51806820C>A | CA384885381 | SCN8A | c.5334C>A (p.Asp1778Glu) c.3398C>A c.5211C>A (p.Asp1737Glu) c.5367C>A (p.Asp1789Glu) | |
12 | g.51806820C= | CA2036193833 | SCN8A | c.5334C= (p.Asp1778=) c.3398C= c.5211C= (p.Asp1737=) c.5367C= (p.Asp1789=) | |
12 | g.51806820C>G | CA384885384 | SCN8A | c.5334C>G (p.Asp1778Glu) c.3398C>G c.5211C>G (p.Asp1737Glu) c.5367C>G (p.Asp1789Glu) | |
12 | g.51806820C>T | CA480062058 | SCN8A | c.5334C>T (p.Asp1778=) c.3398C>T c.5211C>T (p.Asp1737=) c.5367C>T (p.Asp1789=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806821C>A | CA384885386 | SCN8A | c.5335C>A (p.Pro1779Thr) c.3399C>A c.5212C>A (p.Pro1738Thr) c.5368C>A (p.Pro1790Thr) | |
12 | g.51806821C>G | CA384885389 | SCN8A | c.5335C>G (p.Pro1779Ala) c.3399C>G c.5212C>G (p.Pro1738Ala) c.5368C>G (p.Pro1790Ala) | |
12 | g.51806821C>T | CA384885391 | SCN8A | c.5335C>T (p.Pro1779Ser) c.3399C>T c.5212C>T (p.Pro1738Ser) c.5368C>T (p.Pro1790Ser) | gnomAD v4 |
12 | g.51806822C>A | CA384885396 | SCN8A | c.5336C>A (p.Pro1779His) c.3400C>A c.5213C>A (p.Pro1738His) c.5369C>A (p.Pro1790His) | |
12 | g.51806822C= | CA2036193841 | SCN8A | c.5336C= (p.Pro1779=) c.3400C= c.5213C= (p.Pro1738=) c.5369C= (p.Pro1790=) | |
12 | g.51806822C>G | CA384885399 | SCN8A | c.5336C>G (p.Pro1779Arg) c.3400C>G c.5213C>G (p.Pro1738Arg) c.5369C>G (p.Pro1790Arg) | |
12 | g.51806822C>T | CA384885394 | SCN8A | c.5336C>T (p.Pro1779Leu) c.3400C>T c.5213C>T (p.Pro1738Leu) c.5369C>T (p.Pro1790Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806823T>A | CA480062062 | SCN8A | c.5337T>A (p.Pro1779=) c.3401T>A c.5214T>A (p.Pro1738=) c.5370T>A (p.Pro1790=) | |
12 | g.51806823T>C | CA480062064 | SCN8A | c.5337T>C (p.Pro1779=) c.3401T>C c.5214T>C (p.Pro1738=) c.5370T>C (p.Pro1790=) | |
12 | g.51806823T>G | CA480062063 | SCN8A | c.5337T>G (p.Pro1779=) c.3401T>G c.5214T>G (p.Pro1738=) c.5370T>G (p.Pro1790=) | |
12 | g.51806824C>A | CA384885402 | SCN8A | c.5338C>A (p.Leu1780Met) c.3402C>A c.5215C>A (p.Leu1739Met) c.5371C>A (p.Leu1791Met) | |
12 | g.51806824C>G | CA384885404 | SCN8A | c.5338C>G (p.Leu1780Val) c.3402C>G c.5215C>G (p.Leu1739Val) c.5371C>G (p.Leu1791Val) | |
12 | g.51806824C>T | CA480062065 | SCN8A | c.5338C>T (p.Leu1780=) c.3402C>T c.5215C>T (p.Leu1739=) c.5371C>T (p.Leu1791=) | |
12 | g.51806825T>A | CA384885407 | SCN8A | c.5339T>A (p.Leu1780Gln) c.3403T>A c.5216T>A (p.Leu1739Gln) c.5372T>A (p.Leu1791Gln) | |
12 | g.51806825T>C | CA384885410 | SCN8A | c.5339T>C (p.Leu1780Pro) c.3403T>C c.5216T>C (p.Leu1739Pro) c.5372T>C (p.Leu1791Pro) | |
12 | g.51806825T>G | CA384885412 | SCN8A | c.5339T>G (p.Leu1780Arg) c.3403T>G c.5216T>G (p.Leu1739Arg) c.5372T>G (p.Leu1791Arg) | |
12 | g.51806826G>A | CA480062068 | SCN8A | c.5340G>A (p.Leu1780=) c.3404G>A c.5217G>A (p.Leu1739=) c.5373G>A (p.Leu1791=) | gnomAD v4 |
12 | g.51806826G>C | CA480062069 | SCN8A | c.5340G>C (p.Leu1780=) c.3404G>C c.5217G>C (p.Leu1739=) c.5373G>C (p.Leu1791=) | |
12 | g.51806826G>T | CA480062070 | SCN8A | c.5340G>T (p.Leu1780=) c.3404G>T c.5217G>T (p.Leu1739=) c.5373G>T (p.Leu1791=) | |
12 | g.51806827A>C | CA384885416 | SCN8A | c.5341A>C (p.Ser1781Arg) c.3405A>C c.5218A>C (p.Ser1740Arg) c.5374A>C (p.Ser1792Arg) | |
12 | g.51806827A>G | CA384885417 | SCN8A | c.5341A>G (p.Ser1781Gly) c.3405A>G c.5218A>G (p.Ser1740Gly) c.5374A>G (p.Ser1792Gly) | |
12 | g.51806827A>T | CA384885420 | SCN8A | c.5341A>T (p.Ser1781Cys) c.3405A>T c.5218A>T (p.Ser1740Cys) c.5374A>T (p.Ser1792Cys) | |
12 | g.51806828G>A | CA384885422 | SCN8A | c.5342G>A (p.Ser1781Asn) c.3406G>A c.5219G>A (p.Ser1740Asn) c.5375G>A (p.Ser1792Asn) | |
12 | g.51806828G>C | CA384885425 | SCN8A | c.5342G>C (p.Ser1781Thr) c.3406G>C c.5219G>C (p.Ser1740Thr) c.5375G>C (p.Ser1792Thr) | |
12 | g.51806828G>T | CA384885427 | SCN8A | c.5342G>T (p.Ser1781Ile) c.3406G>T c.5219G>T (p.Ser1740Ile) c.5375G>T (p.Ser1792Ile) | |
12 | g.51806829T>A | CA384885431 | SCN8A | c.5343T>A (p.Ser1781Arg) c.3407T>A c.5220T>A (p.Ser1740Arg) c.5376T>A (p.Ser1792Arg) | |
12 | g.51806829T>C | CA6571910 | SCN8A | c.5343T>C (p.Ser1781=) c.3407T>C c.5220T>C (p.Ser1740=) c.5376T>C (p.Ser1792=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806829T>G | CA384885435 | SCN8A | c.5343T>G (p.Ser1781Arg) c.3407T>G c.5220T>G (p.Ser1740Arg) c.5376T>G (p.Ser1792Arg) | |
12 | g.51806829T= | CA2036193844 | SCN8A | c.5343T= (p.Ser1781=) c.3407T= c.5220T= (p.Ser1740=) c.5376T= (p.Ser1792=) | |
12 | g.51806830G>A | CA384885440 | SCN8A | c.5344G>A (p.Glu1782Lys) c.3408G>A c.5221G>A (p.Glu1741Lys) c.5377G>A (p.Glu1793Lys) | |
12 | g.51806830G>C | CA384885438 | SCN8A | c.5344G>C (p.Glu1782Gln) c.3408G>C c.5221G>C (p.Glu1741Gln) c.5377G>C (p.Glu1793Gln) | |
12 | g.51806830G= | CA2036193846 | SCN8A | c.5344G= (p.Glu1782=) c.3408G= c.5221G= (p.Glu1741=) c.5377G= (p.Glu1793=) | |
12 | g.51806830G>T | CA384885437 | SCN8A | c.5344G>T (p.Glu1782Ter) c.3408G>T c.5221G>T (p.Glu1741Ter) c.5377G>T (p.Glu1793Ter) | dbSNP |
12 | g.51806831A>C | CA384885443 | SCN8A | c.5345A>C (p.Glu1782Ala) c.3409A>C c.5222A>C (p.Glu1741Ala) c.5378A>C (p.Glu1793Ala) | |
12 | g.51806831A>G | CA384885445 | SCN8A | c.5345A>G (p.Glu1782Gly) c.3409A>G c.5222A>G (p.Glu1741Gly) c.5378A>G (p.Glu1793Gly) | |
12 | g.51806831A>T | CA384885447 | SCN8A | c.5345A>T (p.Glu1782Val) c.3409A>T c.5222A>T (p.Glu1741Val) c.5378A>T (p.Glu1793Val) | |
12 | g.51806832G>A | CA480062080 | SCN8A | c.5346G>A (p.Glu1782=) c.3410G>A c.5223G>A (p.Glu1741=) c.5379G>A (p.Glu1793=) | gnomAD v4 |
12 | g.51806832G>C | CA384885449 | SCN8A | c.5346G>C (p.Glu1782Asp) c.3410G>C c.5223G>C (p.Glu1741Asp) c.5379G>C (p.Glu1793Asp) | |
12 | g.51806832G>T | CA384885451 | SCN8A | c.5346G>T (p.Glu1782Asp) c.3410G>T c.5223G>T (p.Glu1741Asp) c.5379G>T (p.Glu1793Asp) | |
12 | g.51806833G>A | CA384885452 | SCN8A | c.5347G>A (p.Asp1783Asn) c.3411G>A c.5224G>A (p.Asp1742Asn) c.5380G>A (p.Asp1794Asn) | gnomAD v4 |
12 | g.51806833G>C | CA384885454 | SCN8A | c.5347G>C (p.Asp1783His) c.3411G>C c.5224G>C (p.Asp1742His) c.5380G>C (p.Asp1794His) | |
12 | g.51806833G>T | CA384885456 | SCN8A | c.5347G>T (p.Asp1783Tyr) c.3411G>T c.5224G>T (p.Asp1742Tyr) c.5380G>T (p.Asp1794Tyr) | gnomAD v4 |
12 | g.51806834A= | CA2036193853 | SCN8A | c.5348A= (p.Asp1783=) c.3412A= c.5225A= (p.Asp1742=) c.5381A= (p.Asp1794=) | |
12 | g.51806834A>C | CA384885459 | SCN8A | c.5348A>C (p.Asp1783Ala) c.3412A>C c.5225A>C (p.Asp1742Ala) c.5381A>C (p.Asp1794Ala) | |
12 | g.51806834A>G | CA384885461 | SCN8A | c.5348A>G (p.Asp1783Gly) c.3412A>G c.5225A>G (p.Asp1742Gly) c.5381A>G (p.Asp1794Gly) | |
12 | g.51806834A>T | CA384885463 | SCN8A | c.5348A>T (p.Asp1783Val) c.3412A>T c.5225A>T (p.Asp1742Val) c.5381A>T (p.Asp1794Val) | ClinVar dbSNP |
12 | g.51806835T>A | CA384885466 | SCN8A | c.5349T>A (p.Asp1783Glu) c.3413T>A c.5226T>A (p.Asp1742Glu) c.5382T>A (p.Asp1794Glu) | gnomAD v4 |
12 | g.51806835T>C | CA480062084 | SCN8A | c.5349T>C (p.Asp1783=) c.3413T>C c.5226T>C (p.Asp1742=) c.5382T>C (p.Asp1794=) | |
12 | g.51806835T>G | CA384885467 | SCN8A | c.5349T>G (p.Asp1783Glu) c.3413T>G c.5226T>G (p.Asp1742Glu) c.5382T>G (p.Asp1794Glu) | |
12 | g.51806836G>A | CA384885475 | SCN8A | c.5350G>A (p.Asp1784Asn) c.3414G>A c.5227G>A (p.Asp1743Asn) c.5383G>A (p.Asp1795Asn) | |
12 | g.51806836G>C | CA384885472 | SCN8A | c.5350G>C (p.Asp1784His) c.3414G>C c.5227G>C (p.Asp1743His) c.5383G>C (p.Asp1795His) | |
12 | g.51806836G>T | CA384885470 | SCN8A | c.5350G>T (p.Asp1784Tyr) c.3414G>T c.5227G>T (p.Asp1743Tyr) c.5383G>T (p.Asp1795Tyr) | |
12 | g.51806837A>C | CA384885480 | SCN8A | c.5351A>C (p.Asp1784Ala) c.3415A>C c.5228A>C (p.Asp1743Ala) c.5384A>C (p.Asp1795Ala) | |
12 | g.51806837A>G | CA384885478 | SCN8A | c.5351A>G (p.Asp1784Gly) c.3415A>G c.5228A>G (p.Asp1743Gly) c.5384A>G (p.Asp1795Gly) | |
12 | g.51806837A>T | CA384885479 | SCN8A | c.5351A>T (p.Asp1784Val) c.3415A>T c.5228A>T (p.Asp1743Val) c.5384A>T (p.Asp1795Val) | |
12 | g.51806838C>A | CA384885484 | SCN8A | c.5352C>A (p.Asp1784Glu) c.3416C>A c.5229C>A (p.Asp1743Glu) c.5385C>A (p.Asp1795Glu) | |
12 | g.51806838C>G | CA384885485 | SCN8A | c.5352C>G (p.Asp1784Glu) c.3416C>G c.5229C>G (p.Asp1743Glu) c.5385C>G (p.Asp1795Glu) | |
12 | g.51806838C>T | CA480062096 | SCN8A | c.5352C>T (p.Asp1784=) c.3416C>T c.5229C>T (p.Asp1743=) c.5385C>T (p.Asp1795=) | |
12 | g.51806839T>A | CA384885488 | SCN8A | c.5353T>A (p.Phe1785Ile) c.3417T>A c.5230T>A (p.Phe1744Ile) c.5386T>A (p.Phe1796Ile) | |
12 | g.51806839T>C | CA384885490 | SCN8A | c.5353T>C (p.Phe1785Leu) c.3417T>C c.5230T>C (p.Phe1744Leu) c.5386T>C (p.Phe1796Leu) | |
12 | g.51806839T>G | CA384885492 | SCN8A | c.5353T>G (p.Phe1785Val) c.3417T>G c.5230T>G (p.Phe1744Val) c.5386T>G (p.Phe1796Val) | COSMIC COSMIC |
12 | g.51806840T>A | CA384885496 | SCN8A | c.5354T>A (p.Phe1785Tyr) c.3418T>A c.5231T>A (p.Phe1744Tyr) c.5387T>A (p.Phe1796Tyr) | |
12 | g.51806840T>C | CA384885497 | SCN8A | c.5354T>C (p.Phe1785Ser) c.3418T>C c.5231T>C (p.Phe1744Ser) c.5387T>C (p.Phe1796Ser) | |
12 | g.51806840T>G | CA384885501 | SCN8A | c.5354T>G (p.Phe1785Cys) c.3418T>G c.5231T>G (p.Phe1744Cys) c.5387T>G (p.Phe1796Cys) | |
12 | g.51806841T>A | CA384885504 | SCN8A | c.5355T>A (p.Phe1785Leu) c.3419T>A c.5232T>A (p.Phe1744Leu) c.5388T>A (p.Phe1796Leu) | |
12 | g.51806841T>C | CA480062103 | SCN8A | c.5355T>C (p.Phe1785=) c.3419T>C c.5232T>C (p.Phe1744=) c.5388T>C (p.Phe1796=) | |
12 | g.51806841T>G | CA384885506 | SCN8A | c.5355T>G (p.Phe1785Leu) c.3419T>G c.5232T>G (p.Phe1744Leu) c.5388T>G (p.Phe1796Leu) | gnomAD v4 |
12 | g.51806842G>A | CA384885511 | SCN8A | c.5356G>A (p.Glu1786Lys) c.3420G>A c.5233G>A (p.Glu1745Lys) c.5389G>A (p.Glu1797Lys) | |
12 | g.51806842G>C | CA384885514 | SCN8A | c.5356G>C (p.Glu1786Gln) c.3420G>C c.5233G>C (p.Glu1745Gln) c.5389G>C (p.Glu1797Gln) | |
12 | g.51806842G>T | CA384885509 | SCN8A | c.5356G>T (p.Glu1786Ter) c.3420G>T c.5233G>T (p.Glu1745Ter) c.5389G>T (p.Glu1797Ter) | |
12 | g.51806843A>C | CA384885517 | SCN8A | c.5357A>C (p.Glu1786Ala) c.3421A>C c.5234A>C (p.Glu1745Ala) c.5390A>C (p.Glu1797Ala) | |
12 | g.51806843A>G | CA384885519 | SCN8A | c.5357A>G (p.Glu1786Gly) c.3421A>G c.5234A>G (p.Glu1745Gly) c.5390A>G (p.Glu1797Gly) | |
12 | g.51806843A>T | CA384885522 | SCN8A | c.5357A>T (p.Glu1786Val) c.3421A>T c.5234A>T (p.Glu1745Val) c.5390A>T (p.Glu1797Val) | |
12 | g.51806844G>A | CA480062107 | SCN8A | c.5358G>A (p.Glu1786=) c.3422G>A c.5235G>A (p.Glu1745=) c.5391G>A (p.Glu1797=) | |
12 | g.51806844G>C | CA384885524 | SCN8A | c.5358G>C (p.Glu1786Asp) c.3422G>C c.5235G>C (p.Glu1745Asp) c.5391G>C (p.Glu1797Asp) | |
12 | g.51806844G>T | CA384885526 | SCN8A | c.5358G>T (p.Glu1786Asp) c.3422G>T c.5235G>T (p.Glu1745Asp) c.5391G>T (p.Glu1797Asp) | |
12 | g.51806845A>C | CA384885532 | SCN8A | c.5359A>C (p.Thr1787Pro) c.3423A>C c.5236A>C (p.Thr1746Pro) c.5392A>C (p.Thr1798Pro) | ClinVar |
12 | g.51806845A>G | CA384885528 | SCN8A | c.5359A>G (p.Thr1787Ala) c.3423A>G c.5236A>G (p.Thr1746Ala) c.5392A>G (p.Thr1798Ala) | |
12 | g.51806845A>T | CA384885530 | SCN8A | c.5359A>T (p.Thr1787Ser) c.3423A>T c.5236A>T (p.Thr1746Ser) c.5392A>T (p.Thr1798Ser) | |
12 | g.51806846C>A | CA384885535 | SCN8A | c.5360C>A (p.Thr1787Asn) c.3424C>A c.5237C>A (p.Thr1746Asn) c.5393C>A (p.Thr1798Asn) | ClinVar dbSNP |
12 | g.51806846C= | CA2036193862 | SCN8A | c.5360C= (p.Thr1787=) c.3424C= c.5237C= (p.Thr1746=) c.5393C= (p.Thr1798=) | |
12 | g.51806846C>G | CA384885537 | SCN8A | c.5360C>G (p.Thr1787Ser) c.3424C>G c.5237C>G (p.Thr1746Ser) c.5393C>G (p.Thr1798Ser) | |
12 | g.51806846C>T | CA384885538 | SCN8A | c.5360C>T (p.Thr1787Ile) c.3424C>T c.5237C>T (p.Thr1746Ile) c.5393C>T (p.Thr1798Ile) | |
12 | g.51806847C>A | CA480062119 | SCN8A | c.5361C>A (p.Thr1787=) c.3425C>A c.5238C>A (p.Thr1746=) c.5394C>A (p.Thr1798=) | gnomAD v4 |
12 | g.51806847C>G | CA480062120 | SCN8A | c.5361C>G (p.Thr1787=) c.3425C>G c.5238C>G (p.Thr1746=) c.5394C>G (p.Thr1798=) | |
12 | g.51806847C>T | CA480062122 | SCN8A | c.5361C>T (p.Thr1787=) c.3425C>T c.5238C>T (p.Thr1746=) c.5394C>T (p.Thr1798=) | COSMIC COSMIC |