Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.51806848T>A | CA384885542 | SCN8A | c.5362T>A (p.Phe1788Ile) c.3426T>A c.5239T>A (p.Phe1747Ile) c.5395T>A (p.Phe1799Ile) | |
12 | g.51806848T>C | CA384885543 | SCN8A | c.5362T>C (p.Phe1788Leu) c.3426T>C c.5239T>C (p.Phe1747Leu) c.5395T>C (p.Phe1799Leu) | |
12 | g.51806848T>G | CA384885545 | SCN8A | c.5362T>G (p.Phe1788Val) c.3426T>G c.5239T>G (p.Phe1747Val) c.5395T>G (p.Phe1799Val) | ClinVar |
12 | g.51806849T>A | CA384885551 | SCN8A | c.5363T>A (p.Phe1788Tyr) c.3427T>A c.5240T>A (p.Phe1747Tyr) c.5396T>A (p.Phe1799Tyr) | |
12 | g.51806849T>C | CA384885553 | SCN8A | c.5363T>C (p.Phe1788Ser) c.3427T>C c.5240T>C (p.Phe1747Ser) c.5396T>C (p.Phe1799Ser) | |
12 | g.51806849T>G | CA384885548 | SCN8A | c.5363T>G (p.Phe1788Cys) c.3427T>G c.5240T>G (p.Phe1747Cys) c.5396T>G (p.Phe1799Cys) | gnomAD v4 |
12 | g.51806850C>A | CA384885555 | SCN8A | c.5364C>A (p.Phe1788Leu) c.3428C>A c.5241C>A (p.Phe1747Leu) c.5397C>A (p.Phe1799Leu) | |
12 | g.51806850C>G | CA384885556 | SCN8A | c.5364C>G (p.Phe1788Leu) c.3428C>G c.5241C>G (p.Phe1747Leu) c.5397C>G (p.Phe1799Leu) | |
12 | g.51806850C>T | CA480062132 | SCN8A | c.5364C>T (p.Phe1788=) c.3428C>T c.5241C>T (p.Phe1747=) c.5397C>T (p.Phe1799=) | |
12 | g.51806851T>A | CA384885559 | SCN8A | c.5365T>A (p.Tyr1789Asn) c.3429T>A c.5242T>A (p.Tyr1748Asn) c.5398T>A (p.Tyr1800Asn) | |
12 | g.51806851T>C | CA384885561 | SCN8A | c.5365T>C (p.Tyr1789His) c.3429T>C c.5242T>C (p.Tyr1748His) c.5398T>C (p.Tyr1800His) | |
12 | g.51806851T>G | CA384885563 | SCN8A | c.5365T>G (p.Tyr1789Asp) c.3429T>G c.5242T>G (p.Tyr1748Asp) c.5398T>G (p.Tyr1800Asp) | |
12 | g.51806852A= | CA2036193866 | SCN8A | c.5366A= (p.Tyr1789=) c.3430A= c.5243A= (p.Tyr1748=) c.5399A= (p.Tyr1800=) | |
12 | g.51806852A>C | CA384885566 | SCN8A | c.5366A>C (p.Tyr1789Ser) c.3430A>C c.5243A>C (p.Tyr1748Ser) c.5399A>C (p.Tyr1800Ser) | |
12 | g.51806852A>G | CA236327597 | SCN8A | c.5366A>G (p.Tyr1789Cys) c.3430A>G c.5243A>G (p.Tyr1748Cys) c.5399A>G (p.Tyr1800Cys) | ClinVar dbSNP gnomAD v4 |
12 | g.51806852A>T | CA384885569 | SCN8A | c.5366A>T (p.Tyr1789Phe) c.3430A>T c.5243A>T (p.Tyr1748Phe) c.5399A>T (p.Tyr1800Phe) | |
12 | g.51806853T>A | CA384885573 | SCN8A | c.5367T>A (p.Tyr1789Ter) c.3431T>A c.5244T>A (p.Tyr1748Ter) c.5400T>A (p.Tyr1800Ter) | |
12 | g.51806853T>C | CA480062149 | SCN8A | c.5367T>C (p.Tyr1789=) c.3431T>C c.5244T>C (p.Tyr1748=) c.5400T>C (p.Tyr1800=) | |
12 | g.51806853T>G | CA384885575 | SCN8A | c.5367T>G (p.Tyr1789Ter) c.3431T>G c.5244T>G (p.Tyr1748Ter) c.5400T>G (p.Tyr1800Ter) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806854G>A | CA384885579 | SCN8A | c.5368G>A (p.Glu1790Lys) c.3432G>A c.5245G>A (p.Glu1749Lys) c.5401G>A (p.Glu1801Lys) | gnomAD v4 |
12 | g.51806854G>C | CA384885581 | SCN8A | c.5368G>C (p.Glu1790Gln) c.3432G>C c.5245G>C (p.Glu1749Gln) c.5401G>C (p.Glu1801Gln) | |
12 | g.51806854G= | CA2036193871 | SCN8A | c.5368G= (p.Glu1790=) c.3432G= c.5245G= (p.Glu1749=) c.5401G= (p.Glu1801=) | |
12 | g.51806854G>T | CA384885583 | SCN8A | c.5368G>T (p.Glu1790Ter) c.3432G>T c.5245G>T (p.Glu1749Ter) c.5401G>T (p.Glu1801Ter) | dbSNP |
12 | g.51806855A>C | CA384885588 | SCN8A | c.5369A>C (p.Glu1790Ala) c.3433A>C c.5246A>C (p.Glu1749Ala) c.5402A>C (p.Glu1801Ala) | |
12 | g.51806855A>G | CA384885587 | SCN8A | c.5369A>G (p.Glu1790Gly) c.3433A>G c.5246A>G (p.Glu1749Gly) c.5402A>G (p.Glu1801Gly) | |
12 | g.51806855A>T | CA384885585 | SCN8A | c.5369A>T (p.Glu1790Val) c.3433A>T c.5246A>T (p.Glu1749Val) c.5402A>T (p.Glu1801Val) | |
12 | g.51806856G>A | CA480062160 | SCN8A | c.5370G>A (p.Glu1790=) c.3434G>A c.5247G>A (p.Glu1749=) c.5403G>A (p.Glu1801=) | gnomAD v4 |
12 | g.51806856G>C | CA384885592 | SCN8A | c.5370G>C (p.Glu1790Asp) c.3434G>C c.5247G>C (p.Glu1749Asp) c.5403G>C (p.Glu1801Asp) | |
12 | g.51806856G>T | CA384885593 | SCN8A | c.5370G>T (p.Glu1790Asp) c.3434G>T c.5247G>T (p.Glu1749Asp) c.5403G>T (p.Glu1801Asp) | |
12 | g.51806857A= | CA2036193875 | SCN8A | c.5371A= (p.Ile1791=) c.3435A= c.5248A= (p.Ile1750=) c.5404A= (p.Ile1802=) | |
12 | g.51806857A>C | CA6571911 | SCN8A | c.5371A>C (p.Ile1791Leu) c.3435A>C c.5248A>C (p.Ile1750Leu) c.5404A>C (p.Ile1802Leu) | dbSNP ExAC gnomAD v2 |
12 | g.51806857A>G | CA384885598 | SCN8A | c.5371A>G (p.Ile1791Val) c.3435A>G c.5248A>G (p.Ile1750Val) c.5404A>G (p.Ile1802Val) | |
12 | g.51806857A>T | CA384885600 | SCN8A | c.5371A>T (p.Ile1791Phe) c.3435A>T c.5248A>T (p.Ile1750Phe) c.5404A>T (p.Ile1802Phe) | |
12 | g.51806858T>A | CA384885605 | SCN8A | c.5372T>A (p.Ile1791Asn) c.3436T>A c.5249T>A (p.Ile1750Asn) c.5405T>A (p.Ile1802Asn) | |
12 | g.51806858T>C | CA384885607 | SCN8A | c.5372T>C (p.Ile1791Thr) c.3436T>C c.5249T>C (p.Ile1750Thr) c.5405T>C (p.Ile1802Thr) | dbSNP |
12 | g.51806858T>G | CA384885617 | SCN8A | c.5372T>G (p.Ile1791Ser) c.3436T>G c.5249T>G (p.Ile1750Ser) c.5405T>G (p.Ile1802Ser) | |
12 | g.51806858T= | CA2036193878 | SCN8A | c.5372T= (p.Ile1791=) c.3436T= c.5249T= (p.Ile1750=) c.5405T= (p.Ile1802=) | |
12 | g.51806859C>A | CA480062165 | SCN8A | c.5373C>A (p.Ile1791=) c.3437C>A c.5250C>A (p.Ile1750=) c.5406C>A (p.Ile1802=) | |
12 | g.51806859C>G | CA384885620 | SCN8A | c.5373C>G (p.Ile1791Met) c.3437C>G c.5250C>G (p.Ile1750Met) c.5406C>G (p.Ile1802Met) | |
12 | g.51806859C>T | CA480062169 | SCN8A | c.5373C>T (p.Ile1791=) c.3437C>T c.5250C>T (p.Ile1750=) c.5406C>T (p.Ile1802=) | |
12 | g.51806860T>A | CA384885626 | SCN8A | c.5374T>A (p.Trp1792Arg) c.3438T>A c.5251T>A (p.Trp1751Arg) c.5407T>A (p.Trp1803Arg) | |
12 | g.51806860T>C | CA384885629 | SCN8A | c.5374T>C (p.Trp1792Arg) c.3438T>C c.5251T>C (p.Trp1751Arg) c.5407T>C (p.Trp1803Arg) | |
12 | g.51806860T>G | CA384885632 | SCN8A | c.5374T>G (p.Trp1792Gly) c.3438T>G c.5251T>G (p.Trp1751Gly) c.5407T>G (p.Trp1803Gly) | |
12 | g.51806861G>A | CA384885638 | SCN8A | c.5375G>A (p.Trp1792Ter) c.3439G>A c.5252G>A (p.Trp1751Ter) c.5408G>A (p.Trp1803Ter) | ClinVar dbSNP |
12 | g.51806861G>C | CA384885642 | SCN8A | c.5375G>C (p.Trp1792Ser) c.3439G>C c.5252G>C (p.Trp1751Ser) c.5408G>C (p.Trp1803Ser) | |
12 | g.51806861G= | CA2036193885 | SCN8A | c.5375G= (p.Trp1792=) c.3439G= c.5252G= (p.Trp1751=) c.5408G= (p.Trp1803=) | |
12 | g.51806861G>T | CA384885636 | SCN8A | c.5375G>T (p.Trp1792Leu) c.3439G>T c.5252G>T (p.Trp1751Leu) c.5408G>T (p.Trp1803Leu) | |
12 | g.51806862G>A | CA384885647 | SCN8A | c.5376G>A (p.Trp1792Ter) c.3440G>A c.5253G>A (p.Trp1751Ter) c.5409G>A (p.Trp1803Ter) | dbSNP |
12 | g.51806862G>C | CA384885651 | SCN8A | c.5376G>C (p.Trp1792Cys) c.3440G>C c.5253G>C (p.Trp1751Cys) c.5409G>C (p.Trp1803Cys) | |
12 | g.51806862G= | CA2036193888 | SCN8A | c.5376G= (p.Trp1792=) c.3440G= c.5253G= (p.Trp1751=) c.5409G= (p.Trp1803=) | |
12 | g.51806862G>T | CA384885654 | SCN8A | c.5376G>T (p.Trp1792Cys) c.3440G>T c.5253G>T (p.Trp1751Cys) c.5409G>T (p.Trp1803Cys) | |
12 | g.51806863G>A | CA384885658 | SCN8A | c.5377G>A (p.Glu1793Lys) c.3441G>A c.5254G>A (p.Glu1752Lys) c.5410G>A (p.Glu1804Lys) | COSMIC COSMIC |
12 | g.51806863G>C | CA384885659 | SCN8A | c.5377G>C (p.Glu1793Gln) c.3441G>C c.5254G>C (p.Glu1752Gln) c.5410G>C (p.Glu1804Gln) | |
12 | g.51806863G= | CA2036193897 | SCN8A | c.5377G= (p.Glu1793=) c.3441G= c.5254G= (p.Glu1752=) c.5410G= (p.Glu1804=) | |
12 | g.51806863G>T | CA384885663 | SCN8A | c.5377G>T (p.Glu1793Ter) c.3441G>T c.5254G>T (p.Glu1752Ter) c.5410G>T (p.Glu1804Ter) | dbSNP |
12 | g.51806864A>C | CA384885674 | SCN8A | c.5378A>C (p.Glu1793Ala) c.3442A>C c.5255A>C (p.Glu1752Ala) c.5411A>C (p.Glu1804Ala) | |
12 | g.51806864A>G | CA384885670 | SCN8A | c.5378A>G (p.Glu1793Gly) c.3442A>G c.5255A>G (p.Glu1752Gly) c.5411A>G (p.Glu1804Gly) | |
12 | g.51806864A>T | CA384885672 | SCN8A | c.5378A>T (p.Glu1793Val) c.3442A>T c.5255A>T (p.Glu1752Val) c.5411A>T (p.Glu1804Val) | |
12 | g.51806865G>A | CA480062192 | SCN8A | c.5379G>A (p.Glu1793=) c.3443G>A c.5256G>A (p.Glu1752=) c.5412G>A (p.Glu1804=) | |
12 | g.51806865G>C | CA384885677 | SCN8A | c.5379G>C (p.Glu1793Asp) c.3443G>C c.5256G>C (p.Glu1752Asp) c.5412G>C (p.Glu1804Asp) | |
12 | g.51806865G>T | CA384885679 | SCN8A | c.5379G>T (p.Glu1793Asp) c.3443G>T c.5256G>T (p.Glu1752Asp) c.5412G>T (p.Glu1804Asp) | |
12 | g.51806866A= | CA2036193905 | SCN8A | c.5380A= (p.Lys1794=) c.3444A= c.5257A= (p.Lys1753=) c.5413A= (p.Lys1805=) | |
12 | g.51806866A>C | CA384885686 | SCN8A | c.5380A>C (p.Lys1794Gln) c.3444A>C c.5257A>C (p.Lys1753Gln) c.5413A>C (p.Lys1805Gln) | |
12 | g.51806866A>G | CA384885687 | SCN8A | c.5380A>G (p.Lys1794Glu) c.3444A>G c.5257A>G (p.Lys1753Glu) c.5413A>G (p.Lys1805Glu) | |
12 | g.51806866A>T | CA384885697 | SCN8A | c.5380A>T (p.Lys1794Ter) c.3444A>T c.5257A>T (p.Lys1753Ter) c.5413A>T (p.Lys1805Ter) | dbSNP |
12 | g.51806867A>C | CA384885701 | SCN8A | c.5381A>C (p.Lys1794Thr) c.3445A>C c.5258A>C (p.Lys1753Thr) c.5414A>C (p.Lys1805Thr) | |
12 | g.51806867A>G | CA384885709 | SCN8A | c.5381A>G (p.Lys1794Arg) c.3445A>G c.5258A>G (p.Lys1753Arg) c.5414A>G (p.Lys1805Arg) | |
12 | g.51806867A>T | CA384885706 | SCN8A | c.5381A>T (p.Lys1794Met) c.3445A>T c.5258A>T (p.Lys1753Met) c.5414A>T (p.Lys1805Met) | gnomAD v4 |
12 | g.51806868G>A | CA6571912 | SCN8A | c.5382G>A (p.Lys1794=) c.3446G>A c.5259G>A (p.Lys1753=) c.5415G>A (p.Lys1805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806868G>C | CA384885719 | SCN8A | c.5382G>C (p.Lys1794Asn) c.3446G>C c.5259G>C (p.Lys1753Asn) c.5415G>C (p.Lys1805Asn) | |
12 | g.51806868G= | CA2036193915 | SCN8A | c.5382G= (p.Lys1794=) c.3446G= c.5259G= (p.Lys1753=) c.5415G= (p.Lys1805=) | |
12 | g.51806868G>T | CA384885721 | SCN8A | c.5382G>T (p.Lys1794Asn) c.3446G>T c.5259G>T (p.Lys1753Asn) c.5415G>T (p.Lys1805Asn) | |
12 | g.51806869T>A | CA384885725 | SCN8A | c.5383T>A (p.Phe1795Ile) c.3447T>A c.5260T>A (p.Phe1754Ile) c.5416T>A (p.Phe1806Ile) | |
12 | g.51806869T>C | CA384885728 | SCN8A | c.5383T>C (p.Phe1795Leu) c.3447T>C c.5260T>C (p.Phe1754Leu) c.5416T>C (p.Phe1806Leu) | |
12 | g.51806869T>G | CA384885730 | SCN8A | c.5383T>G (p.Phe1795Val) c.3447T>G c.5260T>G (p.Phe1754Val) c.5416T>G (p.Phe1806Val) | |
12 | g.51806870T>A | CA384885736 | SCN8A | c.5384T>A (p.Phe1795Tyr) c.3448T>A c.5261T>A (p.Phe1754Tyr) c.5417T>A (p.Phe1806Tyr) | |
12 | g.51806870T>C | CA384885740 | SCN8A | c.5384T>C (p.Phe1795Ser) c.3448T>C c.5261T>C (p.Phe1754Ser) c.5417T>C (p.Phe1806Ser) | |
12 | g.51806870T>G | CA384885743 | SCN8A | c.5384T>G (p.Phe1795Cys) c.3448T>G c.5261T>G (p.Phe1754Cys) c.5417T>G (p.Phe1806Cys) | |
12 | g.51806871C>A | CA384885746 | SCN8A | c.5385C>A (p.Phe1795Leu) c.3449C>A c.5262C>A (p.Phe1754Leu) c.5418C>A (p.Phe1806Leu) | ClinVar dbSNP |
12 | g.51806871C= | CA2036193930 | SCN8A | c.5385C= (p.Phe1795=) c.3449C= c.5262C= (p.Phe1754=) c.5418C= (p.Phe1806=) | |
12 | g.51806871C>G | CA384885756 | SCN8A | c.5385C>G (p.Phe1795Leu) c.3449C>G c.5262C>G (p.Phe1754Leu) c.5418C>G (p.Phe1806Leu) | |
12 | g.51806871C>T | CA6571913 | SCN8A | c.5385C>T (p.Phe1795=) c.3449C>T c.5262C>T (p.Phe1754=) c.5418C>T (p.Phe1806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51806872G>A | CA384885774 | SCN8A | c.5386G>A (p.Asp1796Asn) c.3450G>A c.5263G>A (p.Asp1755Asn) c.5419G>A (p.Asp1807Asn) | ClinVar gnomAD v4 |
12 | g.51806872G>C | CA384885766 | SCN8A | c.5386G>C (p.Asp1796His) c.3450G>C c.5263G>C (p.Asp1755His) c.5419G>C (p.Asp1807His) | |
12 | g.51806872G>T | CA384885771 | SCN8A | c.5386G>T (p.Asp1796Tyr) c.3450G>T c.5263G>T (p.Asp1755Tyr) c.5419G>T (p.Asp1807Tyr) | |
12 | g.51806873A>C | CA384885778 | SCN8A | c.5387A>C (p.Asp1796Ala) c.3451A>C c.5264A>C (p.Asp1755Ala) c.5420A>C (p.Asp1807Ala) | |
12 | g.51806873A>G | CA384885788 | SCN8A | c.5387A>G (p.Asp1796Gly) c.3451A>G c.5264A>G (p.Asp1755Gly) c.5420A>G (p.Asp1807Gly) | |
12 | g.51806873A>T | CA384885787 | SCN8A | c.5387A>T (p.Asp1796Val) c.3451A>T c.5264A>T (p.Asp1755Val) c.5420A>T (p.Asp1807Val) | |
12 | g.51806874C>A | CA384885790 | SCN8A | c.5388C>A (p.Asp1796Glu) c.3452C>A c.5265C>A (p.Asp1755Glu) c.5421C>A (p.Asp1807Glu) | |
12 | g.51806874C>G | CA384885791 | SCN8A | c.5388C>G (p.Asp1796Glu) c.3452C>G c.5265C>G (p.Asp1755Glu) c.5421C>G (p.Asp1807Glu) | |
12 | g.51806874C>T | CA480062209 | SCN8A | c.5388C>T (p.Asp1796=) c.3452C>T c.5265C>T (p.Asp1755=) c.5421C>T (p.Asp1807=) | gnomAD v4 |
12 | g.51806875C>A | CA384885798 | SCN8A | c.5389C>A (p.Pro1797Thr) c.3453C>A c.5266C>A (p.Pro1756Thr) c.5422C>A (p.Pro1808Thr) | |
12 | g.51806875C= | CA2036193941 | SCN8A | c.5389C= (p.Pro1797=) c.3453C= c.5266C= (p.Pro1756=) c.5422C= (p.Pro1808=) | |
12 | g.51806875C>G | CA384885801 | SCN8A | c.5389C>G (p.Pro1797Ala) c.3453C>G c.5266C>G (p.Pro1756Ala) c.5422C>G (p.Pro1808Ala) | |
12 | g.51806875C>T | CA6571914 | SCN8A | c.5389C>T (p.Pro1797Ser) c.3453C>T c.5266C>T (p.Pro1756Ser) c.5422C>T (p.Pro1808Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806876C>A | CA384885809 | SCN8A | c.5390C>A (p.Pro1797His) c.3454C>A c.5267C>A (p.Pro1756His) c.5423C>A (p.Pro1808His) | |
12 | g.51806876C>G | CA384885811 | SCN8A | c.5390C>G (p.Pro1797Arg) c.3454C>G c.5267C>G (p.Pro1756Arg) c.5423C>G (p.Pro1808Arg) | |
12 | g.51806876C>T | CA384885813 | SCN8A | c.5390C>T (p.Pro1797Leu) c.3454C>T c.5267C>T (p.Pro1756Leu) c.5423C>T (p.Pro1808Leu) | |
12 | g.51806877C>A | CA480062219 | SCN8A | c.5391C>A (p.Pro1797=) c.3455C>A c.5268C>A (p.Pro1756=) c.5424C>A (p.Pro1808=) | |
12 | g.51806877C= | CA2036193944 | SCN8A | c.5391C= (p.Pro1797=) c.3455C= c.5268C= (p.Pro1756=) c.5424C= (p.Pro1808=) | |
12 | g.51806877C>G | CA480062217 | SCN8A | c.5391C>G (p.Pro1797=) c.3455C>G c.5268C>G (p.Pro1756=) c.5424C>G (p.Pro1808=) | |
12 | g.51806877C>T | CA6571915 | SCN8A | c.5391C>T (p.Pro1797=) c.3455C>T c.5268C>T (p.Pro1756=) c.5424C>T (p.Pro1808=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806878G>A | CA384885823 | SCN8A | c.5392G>A (p.Asp1798Asn) c.3456G>A c.5269G>A (p.Asp1757Asn) c.5425G>A (p.Asp1809Asn) | ClinVar dbSNP gnomAD v4 |
12 | g.51806878G>C | CA384885825 | SCN8A | c.5392G>C (p.Asp1798His) c.3456G>C c.5269G>C (p.Asp1757His) c.5425G>C (p.Asp1809His) | |
12 | g.51806878G>T | CA384885833 | SCN8A | c.5392G>T (p.Asp1798Tyr) c.3456G>T c.5269G>T (p.Asp1757Tyr) c.5425G>T (p.Asp1809Tyr) | |
12 | g.51806879A>C | CA384885840 | SCN8A | c.5393A>C (p.Asp1798Ala) c.3457A>C c.5270A>C (p.Asp1757Ala) c.5426A>C (p.Asp1809Ala) | |
12 | g.51806879A>G | CA384885839 | SCN8A | c.5393A>G (p.Asp1798Gly) c.3457A>G c.5270A>G (p.Asp1757Gly) c.5426A>G (p.Asp1809Gly) | |
12 | g.51806879A>T | CA384885836 | SCN8A | c.5393A>T (p.Asp1798Val) c.3457A>T c.5270A>T (p.Asp1757Val) c.5426A>T (p.Asp1809Val) | |
12 | g.51806880T>A | CA384885842 | SCN8A | c.5394T>A (p.Asp1798Glu) c.3458T>A c.5271T>A (p.Asp1757Glu) c.5427T>A (p.Asp1809Glu) | |
12 | g.51806880T>C | CA480062226 | SCN8A | c.5394T>C (p.Asp1798=) c.3458T>C c.5271T>C (p.Asp1757=) c.5427T>C (p.Asp1809=) | gnomAD v4 |
12 | g.51806880T>G | CA384885844 | SCN8A | c.5394T>G (p.Asp1798Glu) c.3458T>G c.5271T>G (p.Asp1757Glu) c.5427T>G (p.Asp1809Glu) | |
12 | g.51806881G>A | CA384885847 | SCN8A | c.5395G>A (p.Ala1799Thr) c.3459G>A c.5272G>A (p.Ala1758Thr) c.5428G>A (p.Ala1810Thr) | |
12 | g.51806881G>C | CA384885849 | SCN8A | c.5395G>C (p.Ala1799Pro) c.3459G>C c.5272G>C (p.Ala1758Pro) c.5428G>C (p.Ala1810Pro) | |
12 | g.51806881G>T | CA384885851 | SCN8A | c.5395G>T (p.Ala1799Ser) c.3459G>T c.5272G>T (p.Ala1758Ser) c.5428G>T (p.Ala1810Ser) | |
12 | g.51806882C>A | CA384885853 | SCN8A | c.5396C>A (p.Ala1799Asp) c.3460C>A c.5273C>A (p.Ala1758Asp) c.5429C>A (p.Ala1810Asp) | |
12 | g.51806882C>G | CA384885855 | SCN8A | c.5396C>G (p.Ala1799Gly) c.3460C>G c.5273C>G (p.Ala1758Gly) c.5429C>G (p.Ala1810Gly) | |
12 | g.51806882C>T | CA384885856 | SCN8A | c.5396C>T (p.Ala1799Val) c.3460C>T c.5273C>T (p.Ala1758Val) c.5429C>T (p.Ala1810Val) | |
12 | g.51806883C>A | CA480062231 | SCN8A | c.5397C>A (p.Ala1799=) c.3461C>A c.5274C>A (p.Ala1758=) c.5430C>A (p.Ala1810=) | |
12 | g.51806883C= | CA2036193947 | SCN8A | c.5397C= (p.Ala1799=) c.3461C= c.5274C= (p.Ala1758=) c.5430C= (p.Ala1810=) | |
12 | g.51806883C>G | CA480062233 | SCN8A | c.5397C>G (p.Ala1799=) c.3461C>G c.5274C>G (p.Ala1758=) c.5430C>G (p.Ala1810=) | |
12 | g.51806883C>T | CA236327625 | SCN8A | c.5397C>T (p.Ala1799=) c.3461C>T c.5274C>T (p.Ala1758=) c.5430C>T (p.Ala1810=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806884A>C | CA384885860 | SCN8A | c.5398A>C (p.Thr1800Pro) c.3462A>C c.5275A>C (p.Thr1759Pro) c.5431A>C (p.Thr1811Pro) | |
12 | g.51806884A>G | CA384885862 | SCN8A | c.5398A>G (p.Thr1800Ala) c.3462A>G c.5275A>G (p.Thr1759Ala) c.5431A>G (p.Thr1811Ala) | |
12 | g.51806884A>T | CA384885863 | SCN8A | c.5398A>T (p.Thr1800Ser) c.3462A>T c.5275A>T (p.Thr1759Ser) c.5431A>T (p.Thr1811Ser) | |
12 | g.51806885C>A | CA384885869 | SCN8A | c.5399C>A (p.Thr1800Asn) c.3463C>A c.5276C>A (p.Thr1759Asn) c.5432C>A (p.Thr1811Asn) | |
12 | g.51806885C>G | CA384885871 | SCN8A | c.5399C>G (p.Thr1800Ser) c.3463C>G c.5276C>G (p.Thr1759Ser) c.5432C>G (p.Thr1811Ser) | |
12 | g.51806885C>T | CA384885867 | SCN8A | c.5399C>T (p.Thr1800Ile) c.3463C>T c.5276C>T (p.Thr1759Ile) c.5432C>T (p.Thr1811Ile) | |
12 | g.51806886C>A | CA480062238 | SCN8A | c.5400C>A (p.Thr1800=) c.3464C>A c.5277C>A (p.Thr1759=) c.5433C>A (p.Thr1811=) | |
12 | g.51806886C>G | CA480062240 | SCN8A | c.5400C>G (p.Thr1800=) c.3464C>G c.5277C>G (p.Thr1759=) c.5433C>G (p.Thr1811=) | |
12 | g.51806886C>T | CA480062242 | SCN8A | c.5400C>T (p.Thr1800=) c.3464C>T c.5277C>T (p.Thr1759=) c.5433C>T (p.Thr1811=) | |
12 | g.51806887C>A | CA384885873 | SCN8A | c.5401C>A (p.Gln1801Lys) c.3465C>A c.5278C>A (p.Gln1760Lys) c.5434C>A (p.Gln1812Lys) | |
12 | g.51806887C= | CA2036193952 | SCN8A | c.5401C= (p.Gln1801=) c.3465C= c.5278C= (p.Gln1760=) c.5434C= (p.Gln1812=) | |
12 | g.51806887C>G | CA10586300 | SCN8A | c.5401C>G (p.Gln1801Glu) c.3465C>G c.5278C>G (p.Gln1760Glu) c.5434C>G (p.Gln1812Glu) | ClinVar dbSNP |
12 | g.51806887C>T | CA384885875 | SCN8A | c.5401C>T (p.Gln1801Ter) c.3465C>T c.5278C>T (p.Gln1760Ter) c.5434C>T (p.Gln1812Ter) | |
12 | g.51806888A>C | CA384885877 | SCN8A | c.5402A>C (p.Gln1801Pro) c.3466A>C c.5279A>C (p.Gln1760Pro) c.5435A>C (p.Gln1812Pro) | |
12 | g.51806888A>G | CA384885879 | SCN8A | c.5402A>G (p.Gln1801Arg) c.3466A>G c.5279A>G (p.Gln1760Arg) c.5435A>G (p.Gln1812Arg) | |
12 | g.51806888A>T | CA384885881 | SCN8A | c.5402A>T (p.Gln1801Leu) c.3466A>T c.5279A>T (p.Gln1760Leu) c.5435A>T (p.Gln1812Leu) | |
12 | g.51806889G>A | CA480062247 | SCN8A | c.5403G>A (p.Gln1801=) c.3467G>A c.5280G>A (p.Gln1760=) c.5436G>A (p.Gln1812=) | ClinVar dbSNP |
12 | g.51806889G>C | CA384885885 | SCN8A | c.5403G>C (p.Gln1801His) c.3467G>C c.5280G>C (p.Gln1760His) c.5436G>C (p.Gln1812His) | |
12 | g.51806889G= | CA2036193961 | SCN8A | c.5403G= (p.Gln1801=) c.3467G= c.5280G= (p.Gln1760=) c.5436G= (p.Gln1812=) | |
12 | g.51806889G>T | CA384885888 | SCN8A | c.5403G>T (p.Gln1801His) c.3467G>T c.5280G>T (p.Gln1760His) c.5436G>T (p.Gln1812His) | |
12 | g.51806890T>A | CA384885892 | SCN8A | c.5404T>A (p.Phe1802Ile) c.3468T>A c.5281T>A (p.Phe1761Ile) c.5437T>A (p.Phe1813Ile) | |
12 | g.51806890T>C | CA384885895 | SCN8A | c.5404T>C (p.Phe1802Leu) c.3468T>C c.5281T>C (p.Phe1761Leu) c.5437T>C (p.Phe1813Leu) | |
12 | g.51806890T>G | CA384885898 | SCN8A | c.5404T>G (p.Phe1802Val) c.3468T>G c.5281T>G (p.Phe1761Val) c.5437T>G (p.Phe1813Val) | |
12 | g.51806891T>A | CA384885903 | SCN8A | c.5405T>A (p.Phe1802Tyr) c.3469T>A c.5282T>A (p.Phe1761Tyr) c.5438T>A (p.Phe1813Tyr) | |
12 | g.51806891T>C | CA384885906 | SCN8A | c.5405T>C (p.Phe1802Ser) c.3469T>C c.5282T>C (p.Phe1761Ser) c.5438T>C (p.Phe1813Ser) | |
12 | g.51806891T>G | CA384885909 | SCN8A | c.5405T>G (p.Phe1802Cys) c.3469T>G c.5282T>G (p.Phe1761Cys) c.5438T>G (p.Phe1813Cys) | |
12 | g.51806892C>A | CA384885913 | SCN8A | c.5406C>A (p.Phe1802Leu) c.3470C>A c.5283C>A (p.Phe1761Leu) c.5439C>A (p.Phe1813Leu) | |
12 | g.51806892C>G | CA384885916 | SCN8A | c.5406C>G (p.Phe1802Leu) c.3470C>G c.5283C>G (p.Phe1761Leu) c.5439C>G (p.Phe1813Leu) | |
12 | g.51806892C>T | CA480062262 | SCN8A | c.5406C>T (p.Phe1802=) c.3470C>T c.5283C>T (p.Phe1761=) c.5439C>T (p.Phe1813=) | |
12 | g.51806893A>C | CA384885921 | SCN8A | c.5407A>C (p.Ile1803Leu) c.3471A>C c.5284A>C (p.Ile1762Leu) c.5440A>C (p.Ile1814Leu) | |
12 | g.51806893A>G | CA384885924 | SCN8A | c.5407A>G (p.Ile1803Val) c.3471A>G c.5284A>G (p.Ile1762Val) c.5440A>G (p.Ile1814Val) | gnomAD v4 |
12 | g.51806893A>T | CA384885927 | SCN8A | c.5407A>T (p.Ile1803Phe) c.3471A>T c.5284A>T (p.Ile1762Phe) c.5440A>T (p.Ile1814Phe) | |
12 | g.51806894T>A | CA384885931 | SCN8A | c.5408T>A (p.Ile1803Asn) c.3472T>A c.5285T>A (p.Ile1762Asn) c.5441T>A (p.Ile1814Asn) | |
12 | g.51806894T>C | CA384885934 | SCN8A | c.5408T>C (p.Ile1803Thr) c.3472T>C c.5285T>C (p.Ile1762Thr) c.5441T>C (p.Ile1814Thr) | |
12 | g.51806894T>G | CA384885937 | SCN8A | c.5408T>G (p.Ile1803Ser) c.3472T>G c.5285T>G (p.Ile1762Ser) c.5441T>G (p.Ile1814Ser) | |
12 | g.51806895T>A | CA480062269 | SCN8A | c.5409T>A (p.Ile1803=) c.3473T>A c.5286T>A (p.Ile1762=) c.5442T>A (p.Ile1814=) | |
12 | g.51806895T>C | CA480062270 | SCN8A | c.5409T>C (p.Ile1803=) c.3473T>C c.5286T>C (p.Ile1762=) c.5442T>C (p.Ile1814=) | |
12 | g.51806895T>G | CA384885941 | SCN8A | c.5409T>G (p.Ile1803Met) c.3473T>G c.5286T>G (p.Ile1762Met) c.5442T>G (p.Ile1814Met) | |
12 | g.51806896G>A | CA384885944 | SCN8A | c.5410G>A (p.Glu1804Lys) c.3474G>A c.5287G>A (p.Glu1763Lys) c.5443G>A (p.Glu1815Lys) | |
12 | g.51806896G>C | CA384885946 | SCN8A | c.5410G>C (p.Glu1804Gln) c.3474G>C c.5287G>C (p.Glu1763Gln) c.5443G>C (p.Glu1815Gln) | |
12 | g.51806896G= | CA2036193969 | SCN8A | c.5410G= (p.Glu1804=) c.3474G= c.5287G= (p.Glu1763=) c.5443G= (p.Glu1815=) | |
12 | g.51806896G>T | CA384885949 | SCN8A | c.5410G>T (p.Glu1804Ter) c.3474G>T c.5287G>T (p.Glu1763Ter) c.5443G>T (p.Glu1815Ter) | dbSNP |
12 | g.51806897A>C | CA384885965 | SCN8A | c.5411A>C (p.Glu1804Ala) c.3475A>C c.5288A>C (p.Glu1763Ala) c.5444A>C (p.Glu1815Ala) | |
12 | g.51806897A>G | CA384885968 | SCN8A | c.5411A>G (p.Glu1804Gly) c.3475A>G c.5288A>G (p.Glu1763Gly) c.5444A>G (p.Glu1815Gly) | |
12 | g.51806897A>T | CA384885970 | SCN8A | c.5411A>T (p.Glu1804Val) c.3475A>T c.5288A>T (p.Glu1763Val) c.5444A>T (p.Glu1815Val) | |
12 | g.51806898G>A | CA480062277 | SCN8A | c.5412G>A (p.Glu1804=) c.3476G>A c.5289G>A (p.Glu1763=) c.5445G>A (p.Glu1815=) | ClinVar |
12 | g.51806898G>C | CA236327630 | SCN8A | c.5412G>C (p.Glu1804Asp) c.3476G>C c.5289G>C (p.Glu1763Asp) c.5445G>C (p.Glu1815Asp) | ClinVar dbSNP gnomAD v4 |
12 | g.51806898G= | CA2036193974 | SCN8A | c.5412G= (p.Glu1804=) c.3476G= c.5289G= (p.Glu1763=) c.5445G= (p.Glu1815=) | |
12 | g.51806898G>T | CA384885973 | SCN8A | c.5412G>T (p.Glu1804Asp) c.3476G>T c.5289G>T (p.Glu1763Asp) c.5445G>T (p.Glu1815Asp) | |
12 | g.51806899T>A | CA384885979 | SCN8A | c.5413T>A (p.Tyr1805Asn) c.3477T>A c.5290T>A (p.Tyr1764Asn) c.5446T>A (p.Tyr1816Asn) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806899T>C | CA384885985 | SCN8A | c.5413T>C (p.Tyr1805His) c.3477T>C c.5290T>C (p.Tyr1764His) c.5446T>C (p.Tyr1816His) | |
12 | g.51806899T>G | CA384885982 | SCN8A | c.5413T>G (p.Tyr1805Asp) c.3477T>G c.5290T>G (p.Tyr1764Asp) c.5446T>G (p.Tyr1816Asp) | |
12 | g.51806899T= | CA2036193980 | SCN8A | c.5413T= (p.Tyr1805=) c.3477T= c.5290T= (p.Tyr1764=) c.5446T= (p.Tyr1816=) | |
12 | g.51806900A>C | CA384885989 | SCN8A | c.5414A>C (p.Tyr1805Ser) c.3478A>C c.5291A>C (p.Tyr1764Ser) c.5447A>C (p.Tyr1816Ser) | |
12 | g.51806900A>G | CA384885992 | SCN8A | c.5414A>G (p.Tyr1805Cys) c.3478A>G c.5291A>G (p.Tyr1764Cys) c.5447A>G (p.Tyr1816Cys) | |
12 | g.51806900A>T | CA384885994 | SCN8A | c.5414A>T (p.Tyr1805Phe) c.3478A>T c.5291A>T (p.Tyr1764Phe) c.5447A>T (p.Tyr1816Phe) | |
12 | g.51806901C>A | CA384885997 | SCN8A | c.5415C>A (p.Tyr1805Ter) c.3479C>A c.5292C>A (p.Tyr1764Ter) c.5448C>A (p.Tyr1816Ter) | |
12 | g.51806901C>G | CA384885998 | SCN8A | c.5415C>G (p.Tyr1805Ter) c.3479C>G c.5292C>G (p.Tyr1764Ter) c.5448C>G (p.Tyr1816Ter) | |
12 | g.51806901C>T | CA480062284 | SCN8A | c.5415C>T (p.Tyr1805=) c.3479C>T c.5292C>T (p.Tyr1764=) c.5448C>T (p.Tyr1816=) | |
12 | g.51806902T>A | CA384886001 | SCN8A | c.5416T>A (p.Cys1806Ser) c.3480T>A c.5293T>A (p.Cys1765Ser) c.5449T>A (p.Cys1817Ser) | |
12 | g.51806902T>C | CA384886002 | SCN8A | c.5416T>C (p.Cys1806Arg) c.3480T>C c.5293T>C (p.Cys1765Arg) c.5449T>C (p.Cys1817Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.51806902T>G | CA384886004 | SCN8A | c.5416T>G (p.Cys1806Gly) c.3480T>G c.5293T>G (p.Cys1765Gly) c.5449T>G (p.Cys1817Gly) | |
12 | g.51806902T= | CA2036193986 | SCN8A | c.5416T= (p.Cys1806=) c.3480T= c.5293T= (p.Cys1765=) c.5449T= (p.Cys1817=) | |
12 | g.51806903G>A | CA318296 | SCN8A | c.5417G>A (p.Cys1806Tyr) c.3481G>A c.5294G>A (p.Cys1765Tyr) c.5450G>A (p.Cys1817Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806903G>C | CA384886012 | SCN8A | c.5417G>C (p.Cys1806Ser) c.3481G>C c.5294G>C (p.Cys1765Ser) c.5450G>C (p.Cys1817Ser) | gnomAD v4 |
12 | g.51806903G= | CA2036193994 | SCN8A | c.5417G= (p.Cys1806=) c.3481G= c.5294G= (p.Cys1765=) c.5450G= (p.Cys1817=) | |
12 | g.51806903G>T | CA384886021 | SCN8A | c.5417G>T (p.Cys1806Phe) c.3481G>T c.5294G>T (p.Cys1765Phe) c.5450G>T (p.Cys1817Phe) | gnomAD v4 |
12 | g.51806904T>A | CA384886025 | SCN8A | c.5418T>A (p.Cys1806Ter) c.3482T>A c.5295T>A (p.Cys1765Ter) c.5451T>A (p.Cys1817Ter) | dbSNP |
12 | g.51806904T>C | CA480062290 | SCN8A | c.5418T>C (p.Cys1806=) c.3482T>C c.5295T>C (p.Cys1765=) c.5451T>C (p.Cys1817=) | |
12 | g.51806904T>G | CA384886027 | SCN8A | c.5418T>G (p.Cys1806Trp) c.3482T>G c.5295T>G (p.Cys1765Trp) c.5451T>G (p.Cys1817Trp) | |
12 | g.51806904T= | CA2036194001 | SCN8A | c.5418T= (p.Cys1806=) c.3482T= c.5295T= (p.Cys1765=) c.5451T= (p.Cys1817=) |