Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806978C>A | CA384886852 | SCN8A | c.5492C>A (p.Ala1831Asp) c.3556C>A c.5369C>A (p.Ala1790Asp) c.5525C>A (p.Ala1842Asp) | |
12 | g.51806978C>G | CA384886860 | SCN8A | c.5492C>G (p.Ala1831Gly) c.3556C>G c.5369C>G (p.Ala1790Gly) c.5525C>G (p.Ala1842Gly) | gnomAD v4 |
12 | g.51806978C>T | CA384886856 | SCN8A | c.5492C>T (p.Ala1831Val) c.3556C>T c.5369C>T (p.Ala1790Val) c.5525C>T (p.Ala1842Val) | |
12 | g.51806979T>A | CA480061882 | SCN8A | c.5493T>A (p.Ala1831=) c.3557T>A c.5370T>A (p.Ala1790=) c.5526T>A (p.Ala1842=) | |
12 | g.51806979T>C | CA480061883 | SCN8A | c.5493T>C (p.Ala1831=) c.3557T>C c.5370T>C (p.Ala1790=) c.5526T>C (p.Ala1842=) | |
12 | g.51806979T>G | CA480061884 | SCN8A | c.5493T>G (p.Ala1831=) c.3557T>G c.5370T>G (p.Ala1790=) c.5526T>G (p.Ala1842=) | |
12 | g.51806980A>C | CA384886865 | SCN8A | c.5494A>C (p.Met1832Leu) c.3558A>C c.5371A>C (p.Met1791Leu) c.5527A>C (p.Met1843Leu) | |
12 | g.51806980A>G | CA384886876 | SCN8A | c.5494A>G (p.Met1832Val) c.3558A>G c.5371A>G (p.Met1791Val) c.5527A>G (p.Met1843Val) | |
12 | g.51806980A>T | CA384886873 | SCN8A | c.5494A>T (p.Met1832Leu) c.3558A>T c.5371A>T (p.Met1791Leu) c.5527A>T (p.Met1843Leu) | |
12 | g.51806981T>A | CA384886877 | SCN8A | c.5495T>A (p.Met1832Lys) c.3559T>A c.5372T>A (p.Met1791Lys) c.5528T>A (p.Met1843Lys) | |
12 | g.51806981T>C | CA384886880 | SCN8A | c.5495T>C (p.Met1832Thr) c.3559T>C c.5372T>C (p.Met1791Thr) c.5528T>C (p.Met1843Thr) | |
12 | g.51806981T>G | CA384886882 | SCN8A | c.5495T>G (p.Met1832Arg) c.3559T>G c.5372T>G (p.Met1791Arg) c.5528T>G (p.Met1843Arg) | |
12 | g.51806982G>A | CA384886885 | SCN8A | c.5496G>A (p.Met1832Ile) c.3560G>A c.5373G>A (p.Met1791Ile) c.5529G>A (p.Met1843Ile) | COSMIC COSMIC |
12 | g.51806982G>C | CA384886887 | SCN8A | c.5496G>C (p.Met1832Ile) c.3560G>C c.5373G>C (p.Met1791Ile) c.5529G>C (p.Met1843Ile) | |
12 | g.51806982G>T | CA384886890 | SCN8A | c.5496G>T (p.Met1832Ile) c.3560G>T c.5373G>T (p.Met1791Ile) c.5529G>T (p.Met1843Ile) | |
12 | g.51806983G>A | CA384886910 | SCN8A | c.5497G>A (p.Asp1833Asn) c.3561G>A c.5374G>A (p.Asp1792Asn) c.5530G>A (p.Asp1844Asn) | |
12 | g.51806983G>C | CA384886914 | SCN8A | c.5497G>C (p.Asp1833His) c.3561G>C c.5374G>C (p.Asp1792His) c.5530G>C (p.Asp1844His) | |
12 | g.51806983G>T | CA384886918 | SCN8A | c.5497G>T (p.Asp1833Tyr) c.3561G>T c.5374G>T (p.Asp1792Tyr) c.5530G>T (p.Asp1844Tyr) | |
12 | g.51806984A>C | CA384886921 | SCN8A | c.5498A>C (p.Asp1833Ala) c.3562A>C c.5375A>C (p.Asp1792Ala) c.5531A>C (p.Asp1844Ala) | |
12 | g.51806984A>G | CA384886922 | SCN8A | c.5498A>G (p.Asp1833Gly) c.3562A>G c.5375A>G (p.Asp1792Gly) c.5531A>G (p.Asp1844Gly) | ClinVar |
12 | g.51806984A>T | CA384886923 | SCN8A | c.5498A>T (p.Asp1833Val) c.3562A>T c.5375A>T (p.Asp1792Val) c.5531A>T (p.Asp1844Val) | |
12 | g.51806985T>A | CA384886937 | SCN8A | c.5499T>A (p.Asp1833Glu) c.3563T>A c.5376T>A (p.Asp1792Glu) c.5532T>A (p.Asp1844Glu) | ClinVar dbSNP |
12 | g.51806985T>C | CA480061890 | SCN8A | c.5499T>C (p.Asp1833=) c.3563T>C c.5376T>C (p.Asp1792=) c.5532T>C (p.Asp1844=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806985T>G | CA384886933 | SCN8A | c.5499T>G (p.Asp1833Glu) c.3563T>G c.5376T>G (p.Asp1792Glu) c.5532T>G (p.Asp1844Glu) | |
12 | g.51806985T= | CA2036194213 | SCN8A | c.5499T= (p.Asp1833=) c.3563T= c.5376T= (p.Asp1792=) c.5532T= (p.Asp1844=) | |
12 | g.51806986C>A | CA384886941 | SCN8A | c.5500C>A (p.Leu1834Met) c.3564C>A c.5377C>A (p.Leu1793Met) c.5533C>A (p.Leu1845Met) | |
12 | g.51806986C>G | CA384886945 | SCN8A | c.5500C>G (p.Leu1834Val) c.3564C>G c.5377C>G (p.Leu1793Val) c.5533C>G (p.Leu1845Val) | |
12 | g.51806986C>T | CA480061892 | SCN8A | c.5500C>T (p.Leu1834=) c.3564C>T c.5377C>T (p.Leu1793=) c.5533C>T (p.Leu1845=) | gnomAD v4 |
12 | g.51806987T>A | CA384886949 | SCN8A | c.5501T>A (p.Leu1834Gln) c.3565T>A c.5378T>A (p.Leu1793Gln) c.5534T>A (p.Leu1845Gln) | |
12 | g.51806987T>C | CA384886953 | SCN8A | c.5501T>C (p.Leu1834Pro) c.3565T>C c.5378T>C (p.Leu1793Pro) c.5534T>C (p.Leu1845Pro) | |
12 | g.51806987T>G | CA384886959 | SCN8A | c.5501T>G (p.Leu1834Arg) c.3565T>G c.5378T>G (p.Leu1793Arg) c.5534T>G (p.Leu1845Arg) | |
12 | g.51806988G>A | CA480061895 | SCN8A | c.5502G>A (p.Leu1834=) c.3566G>A c.5379G>A (p.Leu1793=) c.5535G>A (p.Leu1845=) | |
12 | g.51806988G>C | CA480061896 | SCN8A | c.5502G>C (p.Leu1834=) c.3566G>C c.5379G>C (p.Leu1793=) c.5535G>C (p.Leu1845=) | |
12 | g.51806988G>T | CA480061898 | SCN8A | c.5502G>T (p.Leu1834=) c.3566G>T c.5379G>T (p.Leu1793=) c.5535G>T (p.Leu1845=) | |
12 | g.51806989C>A | CA384886984 | SCN8A | c.5503C>A (p.Pro1835Thr) c.3567C>A c.5380C>A (p.Pro1794Thr) c.5536C>A (p.Pro1846Thr) | |
12 | g.51806989C>G | CA384886973 | SCN8A | c.5503C>G (p.Pro1835Ala) c.3567C>G c.5380C>G (p.Pro1794Ala) c.5536C>G (p.Pro1846Ala) | |
12 | g.51806989C>T | CA384886969 | SCN8A | c.5503C>T (p.Pro1835Ser) c.3567C>T c.5380C>T (p.Pro1794Ser) c.5536C>T (p.Pro1846Ser) | |
12 | g.51806990del | CA2839011418 | SCN8A | c.5504del (p.Pro1835GlnfsTer3) c.3568del c.5381del (p.Pro1794GlnfsTer3) c.5537del (p.Pro1846GlnfsTer3) | |
12 | g.51806990C>A | CA384886989 | SCN8A | c.5504C>A (p.Pro1835Gln) c.3568C>A c.5381C>A (p.Pro1794Gln) c.5537C>A (p.Pro1846Gln) | |
12 | g.51806990C>G | CA384886990 | SCN8A | c.5504C>G (p.Pro1835Arg) c.3568C>G c.5381C>G (p.Pro1794Arg) c.5537C>G (p.Pro1846Arg) | |
12 | g.51806990C>T | CA384886991 | SCN8A | c.5504C>T (p.Pro1835Leu) c.3568C>T c.5381C>T (p.Pro1794Leu) c.5537C>T (p.Pro1846Leu) | |
12 | g.51806991A= | CA2036194217 | SCN8A | c.5505A= (p.Pro1835=) c.3569A= c.5382A= (p.Pro1794=) c.5538A= (p.Pro1846=) | |
12 | g.51806991A>C | CA480061901 | SCN8A | c.5505A>C (p.Pro1835=) c.3569A>C c.5382A>C (p.Pro1794=) c.5538A>C (p.Pro1846=) | gnomAD v4 |
12 | g.51806991A>G | CA480061902 | SCN8A | c.5505A>G (p.Pro1835=) c.3569A>G c.5382A>G (p.Pro1794=) c.5538A>G (p.Pro1846=) | dbSNP gnomAD v4 COSMIC |
12 | g.51806991A>T | CA480061903 | SCN8A | c.5505A>T (p.Pro1835=) c.3569A>T c.5382A>T (p.Pro1794=) c.5538A>T (p.Pro1846=) | |
12 | g.51806992A= | CA2036194227 | SCN8A | c.5506A= (p.Met1836=) c.3570A= c.5383A= (p.Met1795=) c.5539A= (p.Met1847=) | |
12 | g.51806992A>C | CA384886994 | SCN8A | c.5506A>C (p.Met1836Leu) c.3570A>C c.5383A>C (p.Met1795Leu) c.5539A>C (p.Met1847Leu) | |
12 | g.51806992A>G | CA6571926 | SCN8A | c.5506A>G (p.Met1836Val) c.3570A>G c.5383A>G (p.Met1795Val) c.5539A>G (p.Met1847Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806992A>T | CA236327668 | SCN8A | c.5506A>T (p.Met1836Leu) c.3570A>T c.5383A>T (p.Met1795Leu) c.5539A>T (p.Met1847Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806993T>A | CA384887002 | SCN8A | c.5507T>A (p.Met1836Lys) c.3571T>A c.5384T>A (p.Met1795Lys) c.5540T>A (p.Met1847Lys) | |
12 | g.51806993T>C | CA384887004 | SCN8A | c.5507T>C (p.Met1836Thr) c.3571T>C c.5384T>C (p.Met1795Thr) c.5540T>C (p.Met1847Thr) | dbSNP gnomAD v4 |
12 | g.51806993T>G | CA384887003 | SCN8A | c.5507T>G (p.Met1836Arg) c.3571T>G c.5384T>G (p.Met1795Arg) c.5540T>G (p.Met1847Arg) | |
12 | g.51806993T= | CA2036194231 | SCN8A | c.5507T= (p.Met1836=) c.3571T= c.5384T= (p.Met1795=) c.5540T= (p.Met1847=) | |
12 | g.51806994G>A | CA384887008 | SCN8A | c.5508G>A (p.Met1836Ile) c.3572G>A c.5385G>A (p.Met1795Ile) c.5541G>A (p.Met1847Ile) | |
12 | g.51806994G>C | CA384887019 | SCN8A | c.5508G>C (p.Met1836Ile) c.3572G>C c.5385G>C (p.Met1795Ile) c.5541G>C (p.Met1847Ile) | |
12 | g.51806994G>T | CA384887026 | SCN8A | c.5508G>T (p.Met1836Ile) c.3572G>T c.5385G>T (p.Met1795Ile) c.5541G>T (p.Met1847Ile) | |
12 | g.51806995G>A | CA384887030 | SCN8A | c.5509G>A (p.Val1837Met) c.3573G>A c.5386G>A (p.Val1796Met) c.5542G>A (p.Val1848Met) | |
12 | g.51806995G>C | CA384887031 | SCN8A | c.5509G>C (p.Val1837Leu) c.3573G>C c.5386G>C (p.Val1796Leu) c.5542G>C (p.Val1848Leu) | |
12 | g.51806995G>T | CA384887033 | SCN8A | c.5509G>T (p.Val1837Leu) c.3573G>T c.5386G>T (p.Val1796Leu) c.5542G>T (p.Val1848Leu) | |
12 | g.51806996T>A | CA384887038 | SCN8A | c.5510T>A (p.Val1837Glu) c.3574T>A c.5387T>A (p.Val1796Glu) c.5543T>A (p.Val1848Glu) | |
12 | g.51806996T>C | CA384887052 | SCN8A | c.5510T>C (p.Val1837Ala) c.3574T>C c.5387T>C (p.Val1796Ala) c.5543T>C (p.Val1848Ala) | |
12 | g.51806996T>G | CA384887056 | SCN8A | c.5510T>G (p.Val1837Gly) c.3574T>G c.5387T>G (p.Val1796Gly) c.5543T>G (p.Val1848Gly) | |
12 | g.51806997G>A | CA480061912 | SCN8A | c.5511G>A (p.Val1837=) c.3575G>A c.5388G>A (p.Val1796=) c.5544G>A (p.Val1848=) | |
12 | g.51806997G>C | CA480061911 | SCN8A | c.5511G>C (p.Val1837=) c.3575G>C c.5388G>C (p.Val1796=) c.5544G>C (p.Val1848=) | |
12 | g.51806997G>T | CA480061910 | SCN8A | c.5511G>T (p.Val1837=) c.3575G>T c.5388G>T (p.Val1796=) c.5544G>T (p.Val1848=) | |
12 | g.51806998A>C | CA384887060 | SCN8A | c.5512A>C (p.Ser1838Arg) c.3576A>C c.5389A>C (p.Ser1797Arg) c.5545A>C (p.Ser1849Arg) | |
12 | g.51806998A>G | CA384887061 | SCN8A | c.5512A>G (p.Ser1838Gly) c.3576A>G c.5389A>G (p.Ser1797Gly) c.5545A>G (p.Ser1849Gly) | |
12 | g.51806998A>T | CA384887062 | SCN8A | c.5512A>T (p.Ser1838Cys) c.3576A>T c.5389A>T (p.Ser1797Cys) c.5545A>T (p.Ser1849Cys) | |
12 | g.51806999G>A | CA384887073 | SCN8A | c.5513G>A (p.Ser1838Asn) c.3577G>A c.5390G>A (p.Ser1797Asn) c.5546G>A (p.Ser1849Asn) | |
12 | g.51806999G>C | CA384887067 | SCN8A | c.5513G>C (p.Ser1838Thr) c.3577G>C c.5390G>C (p.Ser1797Thr) c.5546G>C (p.Ser1849Thr) | |
12 | g.51806999G>T | CA384887066 | SCN8A | c.5513G>T (p.Ser1838Ile) c.3577G>T c.5390G>T (p.Ser1797Ile) c.5546G>T (p.Ser1849Ile) | |
12 | g.51807000C>A | CA384887074 | SCN8A | c.5514C>A (p.Ser1838Arg) c.3578C>A c.5391C>A (p.Ser1797Arg) c.5547C>A (p.Ser1849Arg) | |
12 | g.51807000C= | CA2036194235 | SCN8A | c.5514C= (p.Ser1838=) c.3578C= c.5391C= (p.Ser1797=) c.5547C= (p.Ser1849=) | |
12 | g.51807000C>G | CA384887077 | SCN8A | c.5514C>G (p.Ser1838Arg) c.3578C>G c.5391C>G (p.Ser1797Arg) c.5547C>G (p.Ser1849Arg) | |
12 | g.51807000C>T | CA6571927 | SCN8A | c.5514C>T (p.Ser1838=) c.3578C>T c.5391C>T (p.Ser1797=) c.5547C>T (p.Ser1849=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807001G>A | CA384887082 | SCN8A | c.5515G>A (p.Gly1839Arg) c.5392G>A (p.Gly1798Arg) c.5548G>A (p.Gly1850Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.51807001G>C | CA384887084 | SCN8A | c.5515G>C (p.Gly1839Arg) c.5392G>C (p.Gly1798Arg) c.5548G>C (p.Gly1850Arg) | gnomAD v4 |
12 | g.51807001G= | CA2036194241 | SCN8A | c.5515G= (p.Gly1839=) c.5392G= (p.Gly1798=) c.5548G= (p.Gly1850=) | |
12 | g.51807001G>T | CA384887088 | SCN8A | c.5515G>T (p.Gly1839Trp) c.5392G>T (p.Gly1798Trp) c.5548G>T (p.Gly1850Trp) | |
12 | g.51807002G>A | CA384887089 | SCN8A | c.5516G>A (p.Gly1839Glu) c.5393G>A (p.Gly1798Glu) c.5549G>A (p.Gly1850Glu) | |
12 | g.51807002G>C | CA384887090 | SCN8A | c.5516G>C (p.Gly1839Ala) c.5393G>C (p.Gly1798Ala) c.5549G>C (p.Gly1850Ala) | |
12 | g.51807002G>T | CA384887091 | SCN8A | c.5516G>T (p.Gly1839Val) c.5393G>T (p.Gly1798Val) c.5549G>T (p.Gly1850Val) | gnomAD v4 |
12 | g.51807003G>A | CA480061918 | SCN8A | c.5517G>A (p.Gly1839=) c.5394G>A (p.Gly1798=) c.5550G>A (p.Gly1850=) | |
12 | g.51807003G>C | CA480061919 | SCN8A | c.5517G>C (p.Gly1839=) c.5394G>C (p.Gly1798=) c.5550G>C (p.Gly1850=) | |
12 | g.51807003G>T | CA480061920 | SCN8A | c.5517G>T (p.Gly1839=) c.5394G>T (p.Gly1798=) c.5550G>T (p.Gly1850=) | |
12 | g.51807003_51807004insTA | CA2618841927 | SCN8A | c.5517_5518insTA (p.Asp1840Ter) c.5394_5395insTA (p.Asp1799Ter) c.5550_5551insTA (p.Asp1851Ter) | gnomAD v4 |
12 | g.51807004G>A | CA384887096 | SCN8A | c.5518G>A (p.Asp1840Asn) c.5395G>A (p.Asp1799Asn) c.5551G>A (p.Asp1851Asn) | |
12 | g.51807004G>C | CA384887099 | SCN8A | c.5518G>C (p.Asp1840His) c.5395G>C (p.Asp1799His) c.5551G>C (p.Asp1851His) | |
12 | g.51807004G>T | CA384887101 | SCN8A | c.5518G>T (p.Asp1840Tyr) c.5395G>T (p.Asp1799Tyr) c.5551G>T (p.Asp1851Tyr) | |
12 | g.51807005A>C | CA384887108 | SCN8A | c.5519A>C (p.Asp1840Ala) c.5396A>C (p.Asp1799Ala) c.5552A>C (p.Asp1851Ala) | |
12 | g.51807005A>G | CA384887123 | SCN8A | c.5519A>G (p.Asp1840Gly) c.5396A>G (p.Asp1799Gly) c.5552A>G (p.Asp1851Gly) | |
12 | g.51807005A>T | CA384887120 | SCN8A | c.5519A>T (p.Asp1840Val) c.5396A>T (p.Asp1799Val) c.5552A>T (p.Asp1851Val) | |
12 | g.51807006T>A | CA384887126 | SCN8A | c.5520T>A (p.Asp1840Glu) c.5397T>A (p.Asp1799Glu) c.5553T>A (p.Asp1851Glu) | |
12 | g.51807006T>C | CA480061924 | SCN8A | c.5520T>C (p.Asp1840=) c.5397T>C (p.Asp1799=) c.5553T>C (p.Asp1851=) | |
12 | g.51807006T>G | CA384887131 | SCN8A | c.5520T>G (p.Asp1840Glu) c.5397T>G (p.Asp1799Glu) c.5553T>G (p.Asp1851Glu) | |
12 | g.51807007C>A | CA384887134 | SCN8A | c.5521C>A (p.Arg1841Ser) c.5398C>A (p.Arg1800Ser) c.5554C>A (p.Arg1852Ser) | |
12 | g.51807007C= | CA2036194249 | SCN8A | c.5521C= (p.Arg1841=) c.5398C= (p.Arg1800=) c.5554C= (p.Arg1852=) | |
12 | g.51807007C>G | CA384887137 | SCN8A | c.5521C>G (p.Arg1841Gly) c.5398C>G (p.Arg1800Gly) c.5554C>G (p.Arg1852Gly) | |
12 | g.51807007C>T | CA6571928 | SCN8A | c.5521C>T (p.Arg1841Cys) c.5398C>T (p.Arg1800Cys) c.5554C>T (p.Arg1852Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51807008G>A | CA384887139 | SCN8A | c.5522G>A (p.Arg1841His) c.5399G>A (p.Arg1800His) c.5555G>A (p.Arg1852His) | ClinVar gnomAD v4 COSMIC COSMIC |
12 | g.51807008G>C | CA384887140 | SCN8A | c.5522G>C (p.Arg1841Pro) c.5399G>C (p.Arg1800Pro) c.5555G>C (p.Arg1852Pro) | ClinVar dbSNP |
12 | g.51807008G= | CA2036194260 | SCN8A | c.5522G= (p.Arg1841=) c.5399G= (p.Arg1800=) c.5555G= (p.Arg1852=) | |
12 | g.51807008G>T | CA384887145 | SCN8A | c.5522G>T (p.Arg1841Leu) c.5399G>T (p.Arg1800Leu) c.5555G>T (p.Arg1852Leu) | |
12 | g.51807009C>A | CA480061926 | SCN8A | c.5523C>A (p.Arg1841=) c.5400C>A (p.Arg1800=) c.5556C>A (p.Arg1852=) | |
12 | g.51807009C>G | CA480061927 | SCN8A | c.5523C>G (p.Arg1841=) c.5400C>G (p.Arg1800=) c.5556C>G (p.Arg1852=) | |
12 | g.51807009C>T | CA480061928 | SCN8A | c.5523C>T (p.Arg1841=) c.5400C>T (p.Arg1800=) c.5556C>T (p.Arg1852=) | |
12 | g.51807010A>C | CA384887166 | SCN8A | c.5524A>C (p.Ile1842Leu) c.5401A>C (p.Ile1801Leu) c.5557A>C (p.Ile1853Leu) | |
12 | g.51807010A>G | CA384887170 | SCN8A | c.5524A>G (p.Ile1842Val) c.5401A>G (p.Ile1801Val) c.5557A>G (p.Ile1853Val) | |
12 | g.51807010A>T | CA384887174 | SCN8A | c.5524A>T (p.Ile1842Phe) c.5401A>T (p.Ile1801Phe) c.5557A>T (p.Ile1853Phe) | |
12 | g.51807011T>A | CA384887181 | SCN8A | c.5525T>A (p.Ile1842Asn) c.5402T>A (p.Ile1801Asn) c.5558T>A (p.Ile1853Asn) | |
12 | g.51807011T>C | CA384887184 | SCN8A | c.5525T>C (p.Ile1842Thr) c.5402T>C (p.Ile1801Thr) c.5558T>C (p.Ile1853Thr) | |
12 | g.51807011T>G | CA384887186 | SCN8A | c.5525T>G (p.Ile1842Ser) c.5402T>G (p.Ile1801Ser) c.5558T>G (p.Ile1853Ser) | |
12 | g.51807011dup | CA2618841944 | SCN8A | c.5525dup (p.His1843ProfsTer17) c.5402dup (p.His1802ProfsTer17) c.5558dup (p.His1854ProfsTer17) | gnomAD v4 |
12 | g.51807012C>A | CA480061932 | SCN8A | c.5526C>A (p.Ile1842=) c.5403C>A (p.Ile1801=) c.5559C>A (p.Ile1853=) | |
12 | g.51807012C>G | CA384887195 | SCN8A | c.5526C>G (p.Ile1842Met) c.5403C>G (p.Ile1801Met) c.5559C>G (p.Ile1853Met) | |
12 | g.51807012C>T | CA480061933 | SCN8A | c.5526C>T (p.Ile1842=) c.5403C>T (p.Ile1801=) c.5559C>T (p.Ile1853=) | |
12 | g.51807013C>A | CA384887199 | SCN8A | c.5527C>A (p.His1843Asn) c.5404C>A (p.His1802Asn) c.5560C>A (p.His1854Asn) | |
12 | g.51807013C>G | CA384887201 | SCN8A | c.5527C>G (p.His1843Asp) c.5404C>G (p.His1802Asp) c.5560C>G (p.His1854Asp) | |
12 | g.51807013C>T | CA384887200 | SCN8A | c.5527C>T (p.His1843Tyr) c.5404C>T (p.His1802Tyr) c.5560C>T (p.His1854Tyr) | gnomAD v4 |
12 | g.51807014A>C | CA384887206 | SCN8A | c.5528A>C (p.His1843Pro) c.5405A>C (p.His1802Pro) c.5561A>C (p.His1854Pro) | ClinVar |
12 | g.51807014A>G | CA384887213 | SCN8A | c.5528A>G (p.His1843Arg) c.5405A>G (p.His1802Arg) c.5561A>G (p.His1854Arg) | |
12 | g.51807014A>T | CA384887223 | SCN8A | c.5528A>T (p.His1843Leu) c.5405A>T (p.His1802Leu) c.5561A>T (p.His1854Leu) | |
12 | g.51807015C>A | CA384887227 | SCN8A | c.5529C>A (p.His1843Gln) c.5406C>A (p.His1802Gln) c.5562C>A (p.His1854Gln) | |
12 | g.51807015C>G | CA384887230 | SCN8A | c.5529C>G (p.His1843Gln) c.5406C>G (p.His1802Gln) c.5562C>G (p.His1854Gln) | |
12 | g.51807015C>T | CA480061935 | SCN8A | c.5529C>T (p.His1843=) c.5406C>T (p.His1802=) c.5562C>T (p.His1854=) | |
12 | g.51807016T>A | CA384887237 | SCN8A | c.5530T>A (p.Cys1844Ser) c.5407T>A (p.Cys1803Ser) c.5563T>A (p.Cys1855Ser) | |
12 | g.51807016T>C | CA384887240 | SCN8A | c.5530T>C (p.Cys1844Arg) c.5407T>C (p.Cys1803Arg) c.5563T>C (p.Cys1855Arg) | |
12 | g.51807016T>G | CA384887241 | SCN8A | c.5530T>G (p.Cys1844Gly) c.5407T>G (p.Cys1803Gly) c.5563T>G (p.Cys1855Gly) | |
12 | g.51807017G>A | CA384887242 | SCN8A | c.5531G>A (p.Cys1844Tyr) c.5408G>A (p.Cys1803Tyr) c.5564G>A (p.Cys1855Tyr) | |
12 | g.51807017G>C | CA384887245 | SCN8A | c.5531G>C (p.Cys1844Ser) c.5408G>C (p.Cys1803Ser) c.5564G>C (p.Cys1855Ser) | ClinVar |
12 | g.51807017G>T | CA384887246 | SCN8A | c.5531G>T (p.Cys1844Phe) c.5408G>T (p.Cys1803Phe) c.5564G>T (p.Cys1855Phe) | |
12 | g.51807018C>A | CA384887253 | SCN8A | c.5532C>A (p.Cys1844Ter) c.5409C>A (p.Cys1803Ter) c.5565C>A (p.Cys1855Ter) | dbSNP |
12 | g.51807018C= | CA2036194264 | SCN8A | c.5532C= (p.Cys1844=) c.5409C= (p.Cys1803=) c.5565C= (p.Cys1855=) | |
12 | g.51807018C>G | CA384887258 | SCN8A | c.5532C>G (p.Cys1844Trp) c.5409C>G (p.Cys1803Trp) c.5565C>G (p.Cys1855Trp) | |
12 | g.51807018C>T | CA480061938 | SCN8A | c.5532C>T (p.Cys1844=) c.5409C>T (p.Cys1803=) c.5565C>T (p.Cys1855=) | |
12 | g.51807019T>A | CA384887264 | SCN8A | c.5533T>A (p.Leu1845Met) c.5410T>A (p.Leu1804Met) c.5566T>A (p.Leu1856Met) | |
12 | g.51807019T>C | CA480061939 | SCN8A | c.5533T>C (p.Leu1845=) c.5410T>C (p.Leu1804=) c.5566T>C (p.Leu1856=) | |
12 | g.51807019T>G | CA384887267 | SCN8A | c.5533T>G (p.Leu1845Val) c.5410T>G (p.Leu1804Val) c.5566T>G (p.Leu1856Val) | |
12 | g.51807020T>A | CA384887272 | SCN8A | c.5534T>A (p.Leu1845Ter) c.5411T>A (p.Leu1804Ter) c.5567T>A (p.Leu1856Ter) | dbSNP |
12 | g.51807020T>C | CA384887278 | SCN8A | c.5534T>C (p.Leu1845Ser) c.5411T>C (p.Leu1804Ser) c.5567T>C (p.Leu1856Ser) | ClinVar dbSNP |
12 | g.51807020T>G | CA384887281 | SCN8A | c.5534T>G (p.Leu1845Trp) c.5411T>G (p.Leu1804Trp) c.5567T>G (p.Leu1856Trp) | |
12 | g.51807020T= | CA2036194268 | SCN8A | c.5534T= (p.Leu1845=) c.5411T= (p.Leu1804=) c.5567T= (p.Leu1856=) | |
12 | g.51807021G>A | CA480061940 | SCN8A | c.5535G>A (p.Leu1845=) c.5412G>A (p.Leu1804=) c.5568G>A (p.Leu1856=) | COSMIC |
12 | g.51807021G>C | CA384887284 | SCN8A | c.5535G>C (p.Leu1845Phe) c.5412G>C (p.Leu1804Phe) c.5568G>C (p.Leu1856Phe) | |
12 | g.51807021G>T | CA384887289 | SCN8A | c.5535G>T (p.Leu1845Phe) c.5412G>T (p.Leu1804Phe) c.5568G>T (p.Leu1856Phe) | |
12 | g.51807022G>A | CA384887294 | SCN8A | c.5536G>A (p.Asp1846Asn) c.5413G>A (p.Asp1805Asn) c.5569G>A (p.Asp1857Asn) | |
12 | g.51807022G>C | CA384887298 | SCN8A | c.5536G>C (p.Asp1846His) c.5413G>C (p.Asp1805His) c.5569G>C (p.Asp1857His) | |
12 | g.51807022G>T | CA384887301 | SCN8A | c.5536G>T (p.Asp1846Tyr) c.5413G>T (p.Asp1805Tyr) c.5569G>T (p.Asp1857Tyr) | |
12 | g.51807023A>C | CA384887302 | SCN8A | c.5537A>C (p.Asp1846Ala) c.5414A>C (p.Asp1805Ala) c.5570A>C (p.Asp1857Ala) | |
12 | g.51807023A>G | CA384887303 | SCN8A | c.5537A>G (p.Asp1846Gly) c.5414A>G (p.Asp1805Gly) c.5570A>G (p.Asp1857Gly) | |
12 | g.51807023A>T | CA384887308 | SCN8A | c.5537A>T (p.Asp1846Val) c.5414A>T (p.Asp1805Val) c.5570A>T (p.Asp1857Val) | |
12 | g.51807024C>A | CA384887325 | SCN8A | c.5538C>A (p.Asp1846Glu) c.5415C>A (p.Asp1805Glu) c.5571C>A (p.Asp1857Glu) | ClinVar dbSNP |
12 | g.51807024C= | CA2036194269 | SCN8A | c.5538C= (p.Asp1846=) c.5415C= (p.Asp1805=) c.5571C= (p.Asp1857=) | |
12 | g.51807024C>G | CA384887312 | SCN8A | c.5538C>G (p.Asp1846Glu) c.5415C>G (p.Asp1805Glu) c.5571C>G (p.Asp1857Glu) | |
12 | g.51807024C>T | CA480061943 | SCN8A | c.5538C>T (p.Asp1846=) c.5415C>T (p.Asp1805=) c.5571C>T (p.Asp1857=) | dbSNP |
12 | g.51807025A>C | CA384887332 | SCN8A | c.5539A>C (p.Ile1847Leu) c.5416A>C (p.Ile1806Leu) c.5572A>C (p.Ile1858Leu) | |
12 | g.51807025A>G | CA384887336 | SCN8A | c.5539A>G (p.Ile1847Val) c.5416A>G (p.Ile1806Val) c.5572A>G (p.Ile1858Val) | |
12 | g.51807025A>T | CA384887340 | SCN8A | c.5539A>T (p.Ile1847Phe) c.5416A>T (p.Ile1806Phe) c.5572A>T (p.Ile1858Phe) | |
12 | g.51807026T>A | CA384887345 | SCN8A | c.5540T>A (p.Ile1847Asn) c.5417T>A (p.Ile1806Asn) c.5573T>A (p.Ile1858Asn) | |
12 | g.51807026T>C | CA384887349 | SCN8A | c.5540T>C (p.Ile1847Thr) c.5417T>C (p.Ile1806Thr) c.5573T>C (p.Ile1858Thr) | |
12 | g.51807026T>G | CA384887354 | SCN8A | c.5540T>G (p.Ile1847Ser) c.5417T>G (p.Ile1806Ser) c.5573T>G (p.Ile1858Ser) | |
12 | g.51807027C>A | CA480061947 | SCN8A | c.5541C>A (p.Ile1847=) c.5418C>A (p.Ile1806=) c.5574C>A (p.Ile1858=) | |
12 | g.51807027C>G | CA384887357 | SCN8A | c.5541C>G (p.Ile1847Met) c.5418C>G (p.Ile1806Met) c.5574C>G (p.Ile1858Met) | |
12 | g.51807027C>T | CA480061949 | SCN8A | c.5541C>T (p.Ile1847=) c.5418C>T (p.Ile1806=) c.5574C>T (p.Ile1858=) | |
12 | g.51807028C>A | CA384887361 | SCN8A | c.5542C>A (p.Leu1848Ile) c.5419C>A (p.Leu1807Ile) c.5575C>A (p.Leu1859Ile) | |
12 | g.51807028C>G | CA384887362 | SCN8A | c.5542C>G (p.Leu1848Val) c.5419C>G (p.Leu1807Val) c.5575C>G (p.Leu1859Val) | |
12 | g.51807028C>T | CA384887363 | SCN8A | c.5542C>T (p.Leu1848Phe) c.5419C>T (p.Leu1807Phe) c.5575C>T (p.Leu1859Phe) | |
12 | g.51807029T>A | CA384887369 | SCN8A | c.5543T>A (p.Leu1848His) c.5420T>A (p.Leu1807His) c.5576T>A (p.Leu1859His) | |
12 | g.51807029T>C | CA384887372 | SCN8A | c.5543T>C (p.Leu1848Pro) c.5420T>C (p.Leu1807Pro) c.5576T>C (p.Leu1859Pro) | |
12 | g.51807029T>G | CA384887376 | SCN8A | c.5543T>G (p.Leu1848Arg) c.5420T>G (p.Leu1807Arg) c.5576T>G (p.Leu1859Arg) | |
12 | g.51807030T>A | CA480061953 | SCN8A | c.5544T>A (p.Leu1848=) c.5421T>A (p.Leu1807=) c.5577T>A (p.Leu1859=) | |
12 | g.51807030T>C | CA236327674 | SCN8A | c.5544T>C (p.Leu1848=) c.5421T>C (p.Leu1807=) c.5577T>C (p.Leu1859=) | dbSNP gnomAD v4 |
12 | g.51807030T>G | CA480061952 | SCN8A | c.5544T>G (p.Leu1848=) c.5421T>G (p.Leu1807=) c.5577T>G (p.Leu1859=) | |
12 | g.51807030T= | CA2036194272 | SCN8A | c.5544T= (p.Leu1848=) c.5421T= (p.Leu1807=) c.5577T= (p.Leu1859=) | |
12 | g.51807031T>A | CA384887385 | SCN8A | c.5545T>A (p.Phe1849Ile) c.5422T>A (p.Phe1808Ile) c.5578T>A (p.Phe1860Ile) | |
12 | g.51807031T>C | CA384887389 | SCN8A | c.5545T>C (p.Phe1849Leu) c.5422T>C (p.Phe1808Leu) c.5578T>C (p.Phe1860Leu) | |
12 | g.51807031T>G | CA384887382 | SCN8A | c.5545T>G (p.Phe1849Val) c.5422T>G (p.Phe1808Val) c.5578T>G (p.Phe1860Val) | |
12 | g.51807032T>A | CA384887398 | SCN8A | c.5546T>A (p.Phe1849Tyr) c.5423T>A (p.Phe1808Tyr) c.5579T>A (p.Phe1860Tyr) | |
12 | g.51807032T>C | CA384887394 | SCN8A | c.5546T>C (p.Phe1849Ser) c.5423T>C (p.Phe1808Ser) c.5579T>C (p.Phe1860Ser) | |
12 | g.51807032T>G | CA384887399 | SCN8A | c.5546T>G (p.Phe1849Cys) c.5423T>G (p.Phe1808Cys) c.5579T>G (p.Phe1860Cys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807032T= | CA2036194277 | SCN8A | c.5546T= (p.Phe1849=) c.5423T= (p.Phe1808=) c.5579T= (p.Phe1860=) | |
12 | g.51807033T>A | CA384887400 | SCN8A | c.5547T>A (p.Phe1849Leu) c.5424T>A (p.Phe1808Leu) c.5580T>A (p.Phe1860Leu) | |
12 | g.51807033T>C | CA480061957 | SCN8A | c.5547T>C (p.Phe1849=) c.5424T>C (p.Phe1808=) c.5580T>C (p.Phe1860=) | |
12 | g.51807033T>G | CA384887401 | SCN8A | c.5547T>G (p.Phe1849Leu) c.5424T>G (p.Phe1808Leu) c.5580T>G (p.Phe1860Leu) | ClinVar dbSNP |
12 | g.51807034G>A | CA384887404 | SCN8A | c.5548G>A (p.Ala1850Thr) c.5425G>A (p.Ala1809Thr) c.5581G>A (p.Ala1861Thr) | |
12 | g.51807034G>C | CA384887406 | SCN8A | c.5548G>C (p.Ala1850Pro) c.5425G>C (p.Ala1809Pro) c.5581G>C (p.Ala1861Pro) | |
12 | g.51807034G>T | CA384887405 | SCN8A | c.5548G>T (p.Ala1850Ser) c.5425G>T (p.Ala1809Ser) c.5581G>T (p.Ala1861Ser) | |
12 | g.51807035C>A | CA384887409 | SCN8A | c.5549C>A (p.Ala1850Asp) c.5426C>A (p.Ala1809Asp) c.5582C>A (p.Ala1861Asp) | |
12 | g.51807035C= | CA2036194286 | SCN8A | c.5549C= (p.Ala1850=) c.5426C= (p.Ala1809=) c.5582C= (p.Ala1861=) | |
12 | g.51807035C>G | CA384887417 | SCN8A | c.5549C>G (p.Ala1850Gly) c.5426C>G (p.Ala1809Gly) c.5582C>G (p.Ala1861Gly) | |
12 | g.51807035C>T | CA384887413 | SCN8A | c.5549C>T (p.Ala1850Val) c.5426C>T (p.Ala1809Val) c.5582C>T (p.Ala1861Val) | ClinVar dbSNP |
12 | g.51807036C>A | CA480061960 | SCN8A | c.5550C>A (p.Ala1850=) c.5427C>A (p.Ala1809=) c.5583C>A (p.Ala1861=) | |
12 | g.51807036C>G | CA480061959 | SCN8A | c.5550C>G (p.Ala1850=) c.5427C>G (p.Ala1809=) c.5583C>G (p.Ala1861=) | |
12 | g.51807036C>T | CA480061961 | SCN8A | c.5550C>T (p.Ala1850=) c.5427C>T (p.Ala1809=) c.5583C>T (p.Ala1861=) | |
12 | g.51807037T>A | CA384887426 | SCN8A | c.5551T>A (p.Phe1851Ile) c.5428T>A (p.Phe1810Ile) c.5584T>A (p.Phe1862Ile) | |
12 | g.51807037T>C | CA384887437 | SCN8A | c.5551T>C (p.Phe1851Leu) c.5428T>C (p.Phe1810Leu) c.5584T>C (p.Phe1862Leu) | |
12 | g.51807037T>G | CA384887431 | SCN8A | c.5551T>G (p.Phe1851Val) c.5428T>G (p.Phe1810Val) c.5584T>G (p.Phe1862Val) | COSMIC COSMIC |
12 | g.51807038T>A | CA384887441 | SCN8A | c.5552T>A (p.Phe1851Tyr) c.5429T>A (p.Phe1810Tyr) c.5585T>A (p.Phe1862Tyr) | |
12 | g.51807038T>C | CA384887448 | SCN8A | c.5552T>C (p.Phe1851Ser) c.5429T>C (p.Phe1810Ser) c.5585T>C (p.Phe1862Ser) | |
12 | g.51807038T>G | CA384887444 | SCN8A | c.5552T>G (p.Phe1851Cys) c.5429T>G (p.Phe1810Cys) c.5585T>G (p.Phe1862Cys) | |
12 | g.51807039C>A | CA384887453 | SCN8A | c.5553C>A (p.Phe1851Leu) c.5430C>A (p.Phe1810Leu) c.5586C>A (p.Phe1862Leu) | |
12 | g.51807039C>G | CA384887460 | SCN8A | c.5553C>G (p.Phe1851Leu) c.5430C>G (p.Phe1810Leu) c.5586C>G (p.Phe1862Leu) | |
12 | g.51807039C>T | CA480061966 | SCN8A | c.5553C>T (p.Phe1851=) c.5430C>T (p.Phe1810=) c.5586C>T (p.Phe1862=) | |
12 | g.51807040A>C | CA384887465 | SCN8A | c.5554A>C (p.Thr1852Pro) c.5431A>C (p.Thr1811Pro) c.5587A>C (p.Thr1863Pro) | |
12 | g.51807040A>G | CA384887468 | SCN8A | c.5554A>G (p.Thr1852Ala) c.5431A>G (p.Thr1811Ala) c.5587A>G (p.Thr1863Ala) | |
12 | g.51807040A>T | CA384887473 | SCN8A | c.5554A>T (p.Thr1852Ser) c.5431A>T (p.Thr1811Ser) c.5587A>T (p.Thr1863Ser) | |
12 | g.51807041C>A | CA384887478 | SCN8A | c.5555C>A (p.Thr1852Asn) c.5432C>A (p.Thr1811Asn) c.5588C>A (p.Thr1863Asn) | |
12 | g.51807041C= | CA2036194289 | SCN8A | c.5555C= (p.Thr1852=) c.5432C= (p.Thr1811=) c.5588C= (p.Thr1863=) | |
12 | g.51807041C>G | CA384887503 | SCN8A | c.5555C>G (p.Thr1852Ser) c.5432C>G (p.Thr1811Ser) c.5588C>G (p.Thr1863Ser) | |
12 | g.51807041C>T | CA318298 | SCN8A | c.5555C>T (p.Thr1852Ile) c.5432C>T (p.Thr1811Ile) c.5588C>T (p.Thr1863Ile) | ClinVar dbSNP |
12 | g.51807042C>A | CA480061971 | SCN8A | c.5556C>A (p.Thr1852=) c.5433C>A (p.Thr1811=) c.5589C>A (p.Thr1863=) | |
12 | g.51807042C>G | CA480061973 | SCN8A | c.5556C>G (p.Thr1852=) c.5433C>G (p.Thr1811=) c.5589C>G (p.Thr1863=) | |
12 | g.51807042C>T | CA480061974 | SCN8A | c.5556C>T (p.Thr1852=) c.5433C>T (p.Thr1811=) c.5589C>T (p.Thr1863=) | |
12 | g.51807043A= | CA2036194295 | SCN8A | c.5557A= (p.Lys1853=) c.5434A= (p.Lys1812=) c.5590A= (p.Lys1864=) | |
12 | g.51807043A>C | CA384887519 | SCN8A | c.5557A>C (p.Lys1853Gln) c.5434A>C (p.Lys1812Gln) c.5590A>C (p.Lys1864Gln) | |
12 | g.51807043A>G | CA384887524 | SCN8A | c.5557A>G (p.Lys1853Glu) c.5434A>G (p.Lys1812Glu) c.5590A>G (p.Lys1864Glu) | |
12 | g.51807043A>T | CA384887530 | SCN8A | c.5557A>T (p.Lys1853Ter) c.5434A>T (p.Lys1812Ter) c.5590A>T (p.Lys1864Ter) | dbSNP |
12 | g.51807044A= | CA2036194305 | SCN8A | c.5558A= (p.Lys1853=) c.5435A= (p.Lys1812=) c.5591A= (p.Lys1864=) | |
12 | g.51807044A>C | CA384887546 | SCN8A | c.5558A>C (p.Lys1853Thr) c.5435A>C (p.Lys1812Thr) c.5591A>C (p.Lys1864Thr) | ClinVar dbSNP |
12 | g.51807044A>G | CA384887536 | SCN8A | c.5558A>G (p.Lys1853Arg) c.5435A>G (p.Lys1812Arg) c.5591A>G (p.Lys1864Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807044A>T | CA384887537 | SCN8A | c.5558A>T (p.Lys1853Met) c.5435A>T (p.Lys1812Met) c.5591A>T (p.Lys1864Met) | |
12 | g.51807045G>A | CA6571929 | SCN8A | c.5559G>A (p.Lys1853=) c.5436G>A (p.Lys1812=) c.5592G>A (p.Lys1864=) | dbSNP ExAC gnomAD v2 |
12 | g.51807045G>C | CA384887552 | SCN8A | c.5559G>C (p.Lys1853Asn) c.5436G>C (p.Lys1812Asn) c.5592G>C (p.Lys1864Asn) | ClinVar |
12 | g.51807045G= | CA2036194320 | SCN8A | c.5559G= (p.Lys1853=) c.5436G= (p.Lys1812=) c.5592G= (p.Lys1864=) | |
12 | g.51807045G>T | CA384887555 | SCN8A | c.5559G>T (p.Lys1853Asn) c.5436G>T (p.Lys1812Asn) c.5592G>T (p.Lys1864Asn) | |
12 | g.51807046C>A | CA480061977 | SCN8A | c.5560C>A (p.Arg1854=) c.5437C>A (p.Arg1813=) c.5593C>A (p.Arg1865=) | |
12 | g.51807046C>G | CA384887560 | SCN8A | c.5560C>G (p.Arg1854Gly) c.5437C>G (p.Arg1813Gly) c.5593C>G (p.Arg1865Gly) | |
12 | g.51807046C>T | CA384887561 | SCN8A | c.5560C>T (p.Arg1854Trp) c.5437C>T (p.Arg1813Trp) c.5593C>T (p.Arg1865Trp) | COSMIC COSMIC |
12 | g.51807047G>A | CA236327685 | SCN8A | c.5561G>A (p.Arg1854Gln) c.5438G>A (p.Arg1813Gln) c.5594G>A (p.Arg1865Gln) | ClinVar dbSNP gnomAD v4 |
12 | g.51807047G>C | CA384887565 | SCN8A | c.5561G>C (p.Arg1854Pro) c.5438G>C (p.Arg1813Pro) c.5594G>C (p.Arg1865Pro) | |
12 | g.51807047G= | CA2036194326 | SCN8A | c.5561G= (p.Arg1854=) c.5438G= (p.Arg1813=) c.5594G= (p.Arg1865=) | |
12 | g.51807047G>T | CA384887566 | SCN8A | c.5561G>T (p.Arg1854Leu) c.5438G>T (p.Arg1813Leu) c.5594G>T (p.Arg1865Leu) | |
12 | g.51807048G>A | CA480061982 | SCN8A | c.5562G>A (p.Arg1854=) c.5439G>A (p.Arg1813=) c.5595G>A (p.Arg1865=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807048G>C | CA480061983 | SCN8A | c.5562G>C (p.Arg1854=) c.5439G>C (p.Arg1813=) c.5595G>C (p.Arg1865=) | |
12 | g.51807048G= | CA2036194330 | SCN8A | c.5562G= (p.Arg1854=) c.5439G= (p.Arg1813=) c.5595G= (p.Arg1865=) | |
12 | g.51807048G>T | CA480061984 | SCN8A | c.5562G>T (p.Arg1854=) c.5439G>T (p.Arg1813=) c.5595G>T (p.Arg1865=) | gnomAD v4 |
12 | g.51807049G>A | CA384887567 | SCN8A | c.5563G>A (p.Val1855Ile) c.5440G>A (p.Val1814Ile) c.5596G>A (p.Val1866Ile) | |
12 | g.51807049G>C | CA384887569 | SCN8A | c.5563G>C (p.Val1855Leu) c.5440G>C (p.Val1814Leu) c.5596G>C (p.Val1866Leu) | |
12 | g.51807049G>T | CA384887570 | SCN8A | c.5563G>T (p.Val1855Phe) c.5440G>T (p.Val1814Phe) c.5596G>T (p.Val1866Phe) | |
12 | g.51807050T>A | CA384887577 | SCN8A | c.5564T>A (p.Val1855Asp) c.5441T>A (p.Val1814Asp) c.5597T>A (p.Val1866Asp) | ClinVar dbSNP |
12 | g.51807050T>C | CA384887576 | SCN8A | c.5564T>C (p.Val1855Ala) c.5441T>C (p.Val1814Ala) c.5597T>C (p.Val1866Ala) | |
12 | g.51807050T>G | CA384887575 | SCN8A | c.5564T>G (p.Val1855Gly) c.5441T>G (p.Val1814Gly) c.5597T>G (p.Val1866Gly) | |
12 | g.51807051C>A | CA480061989 | SCN8A | c.5565C>A (p.Val1855=) c.5442C>A (p.Val1814=) c.5598C>A (p.Val1866=) | |
12 | g.51807051C= | CA2036194335 | SCN8A | c.5565C= (p.Val1855=) c.5442C= (p.Val1814=) c.5598C= (p.Val1866=) | |
12 | g.51807051C>G | CA480061988 | SCN8A | c.5565C>G (p.Val1855=) c.5442C>G (p.Val1814=) c.5598C>G (p.Val1866=) | gnomAD v4 |
12 | g.51807051C>T | CA480061986 | SCN8A | c.5565C>T (p.Val1855=) c.5442C>T (p.Val1814=) c.5598C>T (p.Val1866=) | dbSNP |
12 | g.51807052C>A | CA384887582 | SCN8A | c.5566C>A (p.Leu1856Met) c.5443C>A (p.Leu1815Met) c.5599C>A (p.Leu1867Met) | |
12 | g.51807052C>G | CA384887578 | SCN8A | c.5566C>G (p.Leu1856Val) c.5443C>G (p.Leu1815Val) c.5599C>G (p.Leu1867Val) | ClinVar |
12 | g.51807052C>T | CA480061990 | SCN8A | c.5566C>T (p.Leu1856=) c.5443C>T (p.Leu1815=) c.5599C>T (p.Leu1867=) | gnomAD v4 |
12 | g.51807053T>A | CA384887588 | SCN8A | c.5567T>A (p.Leu1856Gln) c.5444T>A (p.Leu1815Gln) c.5600T>A (p.Leu1867Gln) | |
12 | g.51807053T>C | CA384887594 | SCN8A | c.5567T>C (p.Leu1856Pro) c.5444T>C (p.Leu1815Pro) c.5600T>C (p.Leu1867Pro) | |
12 | g.51807053T>G | CA384887597 | SCN8A | c.5567T>G (p.Leu1856Arg) c.5444T>G (p.Leu1815Arg) c.5600T>G (p.Leu1867Arg) | |
12 | g.51807054G>A | CA480061991 | SCN8A | c.5568G>A (p.Leu1856=) c.5445G>A (p.Leu1815=) c.5601G>A (p.Leu1867=) | |
12 | g.51807054G>C | CA480061992 | SCN8A | c.5568G>C (p.Leu1856=) c.5445G>C (p.Leu1815=) c.5601G>C (p.Leu1867=) | |
12 | g.51807054G>T | CA480061993 | SCN8A | c.5568G>T (p.Leu1856=) c.5445G>T (p.Leu1815=) c.5601G>T (p.Leu1867=) | gnomAD v4 |
12 | g.51807056del | CA2580086587 | SCN8A | c.5570del (p.Gly1857GlufsTer?) c.5447del (p.Gly1816GlufsTer?) c.5603del (p.Gly1868GlufsTer?) | ClinVar |
12 | g.51807055G>A | CA384887601 | SCN8A | c.5569G>A (p.Gly1857Arg) c.5446G>A (p.Gly1816Arg) c.5602G>A (p.Gly1868Arg) | COSMIC COSMIC |
12 | g.51807055G>C | CA384887602 | SCN8A | c.5569G>C (p.Gly1857Arg) c.5446G>C (p.Gly1816Arg) c.5602G>C (p.Gly1868Arg) | |
12 | g.51807055G= | CA2036194339 | SCN8A | c.5569G= (p.Gly1857=) c.5446G= (p.Gly1816=) c.5602G= (p.Gly1868=) | |
12 | g.51807055G>T | CA384887603 | SCN8A | c.5569G>T (p.Gly1857Ter) c.5446G>T (p.Gly1816Ter) c.5602G>T (p.Gly1868Ter) | dbSNP |
12 | g.51807056G>A | CA384887605 | SCN8A | c.5570G>A (p.Gly1857Glu) c.5447G>A (p.Gly1816Glu) c.5603G>A (p.Gly1868Glu) | |
12 | g.51807056G>C | CA384887606 | SCN8A | c.5570G>C (p.Gly1857Ala) c.5447G>C (p.Gly1816Ala) c.5603G>C (p.Gly1868Ala) | |
12 | g.51807056G>T | CA384887608 | SCN8A | c.5570G>T (p.Gly1857Val) c.5447G>T (p.Gly1816Val) c.5603G>T (p.Gly1868Val) | |
12 | g.51807057A>C | CA480061998 | SCN8A | c.5571A>C (p.Gly1857=) c.5448A>C (p.Gly1816=) c.5604A>C (p.Gly1868=) | |
12 | g.51807057A>G | CA480061999 | SCN8A | c.5571A>G (p.Gly1857=) c.5448A>G (p.Gly1816=) c.5604A>G (p.Gly1868=) | |
12 | g.51807057A>T | CA480062000 | SCN8A | c.5571A>T (p.Gly1857=) c.5448A>T (p.Gly1816=) c.5604A>T (p.Gly1868=) | |
12 | g.51807058G>A | CA384887615 | SCN8A | c.5572G>A (p.Asp1858Asn) c.5449G>A (p.Asp1817Asn) c.5605G>A (p.Asp1869Asn) | COSMIC COSMIC |
12 | g.51807058G>C | CA384887618 | SCN8A | c.5572G>C (p.Asp1858His) c.5449G>C (p.Asp1817His) c.5605G>C (p.Asp1869His) | gnomAD v4 |
12 | g.51807058G>T | CA384887623 | SCN8A | c.5572G>T (p.Asp1858Tyr) c.5449G>T (p.Asp1817Tyr) c.5605G>T (p.Asp1869Tyr) | |
12 | g.51807059A>C | CA384887631 | SCN8A | c.5573A>C (p.Asp1858Ala) c.5450A>C (p.Asp1817Ala) c.5606A>C (p.Asp1869Ala) | |
12 | g.51807059A>G | CA384887639 | SCN8A | c.5573A>G (p.Asp1858Gly) c.5450A>G (p.Asp1817Gly) c.5606A>G (p.Asp1869Gly) | |
12 | g.51807059A>T | CA384887634 | SCN8A | c.5573A>T (p.Asp1858Val) c.5450A>T (p.Asp1817Val) c.5606A>T (p.Asp1869Val) | |
12 | g.51807060T>A | CA384887647 | SCN8A | c.5574T>A (p.Asp1858Glu) c.5451T>A (p.Asp1817Glu) c.5607T>A (p.Asp1869Glu) | |
12 | g.51807060T>C | CA480062004 | SCN8A | c.5574T>C (p.Asp1858=) c.5451T>C (p.Asp1817=) c.5607T>C (p.Asp1869=) | gnomAD v4 |
12 | g.51807060T>G | CA384887675 | SCN8A | c.5574T>G (p.Asp1858Glu) c.5451T>G (p.Asp1817Glu) c.5607T>G (p.Asp1869Glu) | |
12 | g.51807061A= | CA2036194346 | SCN8A | c.5575A= (p.Ser1859=) c.5452A= (p.Ser1818=) c.5608A= (p.Ser1870=) | |
12 | g.51807061A>C | CA384887683 | SCN8A | c.5575A>C (p.Ser1859Arg) c.5452A>C (p.Ser1818Arg) c.5608A>C (p.Ser1870Arg) | |
12 | g.51807061A>G | CA384887687 | SCN8A | c.5575A>G (p.Ser1859Gly) c.5452A>G (p.Ser1818Gly) c.5608A>G (p.Ser1870Gly) | ClinVar dbSNP |
12 | g.51807061A>T | CA384887697 | SCN8A | c.5575A>T (p.Ser1859Cys) c.5452A>T (p.Ser1818Cys) c.5608A>T (p.Ser1870Cys) | |
12 | g.51807062G>A | CA384887701 | SCN8A | c.5576G>A (p.Ser1859Asn) c.5453G>A (p.Ser1818Asn) c.5609G>A (p.Ser1870Asn) | |
12 | g.51807062G>C | CA384887705 | SCN8A | c.5576G>C (p.Ser1859Thr) c.5453G>C (p.Ser1818Thr) c.5609G>C (p.Ser1870Thr) | gnomAD v4 |
12 | g.51807062G>T | CA384887709 | SCN8A | c.5576G>T (p.Ser1859Ile) c.5453G>T (p.Ser1818Ile) c.5609G>T (p.Ser1870Ile) | |
12 | g.51807063C>A | CA384887714 | SCN8A | c.5577C>A (p.Ser1859Arg) c.5454C>A (p.Ser1818Arg) c.5610C>A (p.Ser1870Arg) | |
12 | g.51807063C= | CA2036194355 | SCN8A | c.5577C= (p.Ser1859=) c.5454C= (p.Ser1818=) c.5610C= (p.Ser1870=) | |
12 | g.51807063C>G | CA384887719 | SCN8A | c.5577C>G (p.Ser1859Arg) c.5454C>G (p.Ser1818Arg) c.5610C>G (p.Ser1870Arg) | |
12 | g.51807063C>T | CA6571930 | SCN8A | c.5577C>T (p.Ser1859=) c.5454C>T (p.Ser1818=) c.5610C>T (p.Ser1870=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807064G>A | CA384887740 | SCN8A | c.5578G>A (p.Gly1860Arg) c.5455G>A (p.Gly1819Arg) c.5611G>A (p.Gly1871Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807064G>C | CA384887741 | SCN8A | c.5578G>C (p.Gly1860Arg) c.5455G>C (p.Gly1819Arg) c.5611G>C (p.Gly1871Arg) | |
12 | g.51807064G= | CA2036194364 | SCN8A | c.5578G= (p.Gly1860=) c.5455G= (p.Gly1819=) c.5611G= (p.Gly1871=) | |
12 | g.51807064G>T | CA384887733 | SCN8A | c.5578G>T (p.Gly1860Trp) c.5455G>T (p.Gly1819Trp) c.5611G>T (p.Gly1871Trp) | |
12 | g.51807065G>A | CA384887747 | SCN8A | c.5579G>A (p.Gly1860Glu) c.5456G>A (p.Gly1819Glu) c.5612G>A (p.Gly1871Glu) | |
12 | g.51807065G>C | CA384887754 | SCN8A | c.5579G>C (p.Gly1860Ala) c.5456G>C (p.Gly1819Ala) c.5612G>C (p.Gly1871Ala) | |
12 | g.51807065G>T | CA384887750 | SCN8A | c.5579G>T (p.Gly1860Val) c.5456G>T (p.Gly1819Val) c.5612G>T (p.Gly1871Val) | |
12 | g.51807065_51807085dup | CA2499221741 | SCN8A | c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg) c.5456_5476dup (p.Arg1825_Gln1826insArgGluLeuAspIleLeuArg) c.5612_5632dup (p.Arg1877_Gln1878insArgGluLeuAspIleLeuArg) | ClinVar dbSNP |
12 | g.51807066G>A | CA6571931 | SCN8A | c.5580G>A (p.Gly1860=) c.5457G>A (p.Gly1819=) c.5613G>A (p.Gly1871=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807066G>C | CA480062007 | SCN8A | c.5580G>C (p.Gly1860=) c.5457G>C (p.Gly1819=) c.5613G>C (p.Gly1871=) | |
12 | g.51807066G= | CA2036194374 | SCN8A | c.5580G= (p.Gly1860=) c.5457G= (p.Gly1819=) c.5613G= (p.Gly1871=) | |
12 | g.51807066G>T | CA480062008 | SCN8A | c.5580G>T (p.Gly1860=) c.5457G>T (p.Gly1819=) c.5613G>T (p.Gly1871=) | |
12 | g.51807067G>A | CA384887757 | SCN8A | c.5581G>A (p.Glu1861Lys) c.5458G>A (p.Glu1820Lys) c.5614G>A (p.Glu1872Lys) | |
12 | g.51807067G>C | CA384887759 | SCN8A | c.5581G>C (p.Glu1861Gln) c.5458G>C (p.Glu1820Gln) c.5614G>C (p.Glu1872Gln) | |
12 | g.51807067G= | CA2036194377 | SCN8A | c.5581G= (p.Glu1861=) c.5458G= (p.Glu1820=) c.5614G= (p.Glu1872=) | |
12 | g.51807067G>T | CA384887764 | SCN8A | c.5581G>T (p.Glu1861Ter) c.5458G>T (p.Glu1820Ter) c.5614G>T (p.Glu1872Ter) | dbSNP |
12 | g.51807068A>C | CA384887767 | SCN8A | c.5582A>C (p.Glu1861Ala) c.5459A>C (p.Glu1820Ala) c.5615A>C (p.Glu1872Ala) | |
12 | g.51807068A>G | CA384887768 | SCN8A | c.5582A>G (p.Glu1861Gly) c.5459A>G (p.Glu1820Gly) c.5615A>G (p.Glu1872Gly) | ClinVar dbSNP |
12 | g.51807068A>T | CA384887769 | SCN8A | c.5582A>T (p.Glu1861Val) c.5459A>T (p.Glu1820Val) c.5615A>T (p.Glu1872Val) | |
12 | g.51807069G>A | CA480062013 | SCN8A | c.5583G>A (p.Glu1861=) c.5460G>A (p.Glu1820=) c.5616G>A (p.Glu1872=) | gnomAD v4 |
12 | g.51807069G>C | CA384887770 | SCN8A | c.5583G>C (p.Glu1861Asp) c.5460G>C (p.Glu1820Asp) c.5616G>C (p.Glu1872Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807069G= | CA2036194381 | SCN8A | c.5583G= (p.Glu1861=) c.5460G= (p.Glu1820=) c.5616G= (p.Glu1872=) | |
12 | g.51807069G>T | CA384887771 | SCN8A | c.5583G>T (p.Glu1861Asp) c.5460G>T (p.Glu1820Asp) c.5616G>T (p.Glu1872Asp) | |
12 | g.51807070T>A | CA384887773 | SCN8A | c.5584T>A (p.Leu1862Met) c.5461T>A (p.Leu1821Met) c.5617T>A (p.Leu1873Met) | |
12 | g.51807070T>C | CA480062014 | SCN8A | c.5584T>C (p.Leu1862=) c.5461T>C (p.Leu1821=) c.5617T>C (p.Leu1873=) | gnomAD v4 |
12 | g.51807070T>G | CA384887775 | SCN8A | c.5584T>G (p.Leu1862Val) c.5461T>G (p.Leu1821Val) c.5617T>G (p.Leu1873Val) | ClinVar |
12 | g.51807071T>A | CA384887796 | SCN8A | c.5585T>A (p.Leu1862Ter) c.5462T>A (p.Leu1821Ter) c.5618T>A (p.Leu1873Ter) | |
12 | g.51807071T>C | CA384887780 | SCN8A | c.5585T>C (p.Leu1862Ser) c.5462T>C (p.Leu1821Ser) c.5618T>C (p.Leu1873Ser) | |
12 | g.51807071T>G | CA384887793 | SCN8A | c.5585T>G (p.Leu1862Trp) c.5462T>G (p.Leu1821Trp) c.5618T>G (p.Leu1873Trp) | |
12 | g.51807072G>A | CA480062021 | SCN8A | c.5586G>A (p.Leu1862=) c.5463G>A (p.Leu1821=) c.5619G>A (p.Leu1873=) | |
12 | g.51807072G>C | CA384887799 | SCN8A | c.5586G>C (p.Leu1862Phe) c.5463G>C (p.Leu1821Phe) c.5619G>C (p.Leu1873Phe) | |
12 | g.51807072G>T | CA384887803 | SCN8A | c.5586G>T (p.Leu1862Phe) c.5463G>T (p.Leu1821Phe) c.5619G>T (p.Leu1873Phe) | |
12 | g.51807073G>A | CA236327721 | SCN8A | c.5587G>A (p.Asp1863Asn) c.5464G>A (p.Asp1822Asn) c.5620G>A (p.Asp1874Asn) | dbSNP |
12 | g.51807073G>C | CA384887810 | SCN8A | c.5587G>C (p.Asp1863His) c.5464G>C (p.Asp1822His) c.5620G>C (p.Asp1874His) | |
12 | g.51807073G= | CA2036194407 | SCN8A | c.5587G= (p.Asp1863=) c.5464G= (p.Asp1822=) c.5620G= (p.Asp1874=) | |
12 | g.51807073G>T | CA384887815 | SCN8A | c.5587G>T (p.Asp1863Tyr) c.5464G>T (p.Asp1822Tyr) c.5620G>T (p.Asp1874Tyr) | |
12 | g.51807074A>C | CA384887820 | SCN8A | c.5588A>C (p.Asp1863Ala) c.5465A>C (p.Asp1822Ala) c.5621A>C (p.Asp1874Ala) | ClinVar dbSNP |
12 | g.51807074A>G | CA384887823 | SCN8A | c.5588A>G (p.Asp1863Gly) c.5465A>G (p.Asp1822Gly) c.5621A>G (p.Asp1874Gly) | |
12 | g.51807074A>T | CA384887824 | SCN8A | c.5588A>T (p.Asp1863Val) c.5465A>T (p.Asp1822Val) c.5621A>T (p.Asp1874Val) | |
12 | g.51807075C>A | CA384887825 | SCN8A | c.5589C>A (p.Asp1863Glu) c.5466C>A (p.Asp1822Glu) c.5622C>A (p.Asp1874Glu) | dbSNP |
12 | g.51807075C= | CA2036194417 | SCN8A | c.5589C= (p.Asp1863=) c.5466C= (p.Asp1822=) c.5622C= (p.Asp1874=) | |
12 | g.51807075C>G | CA384887826 | SCN8A | c.5589C>G (p.Asp1863Glu) c.5466C>G (p.Asp1822Glu) c.5622C>G (p.Asp1874Glu) | |
12 | g.51807075C>T | CA480062024 | SCN8A | c.5589C>T (p.Asp1863=) c.5466C>T (p.Asp1822=) c.5622C>T (p.Asp1874=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807076A= | CA2036194423 | SCN8A | c.5590A= (p.Ile1864=) c.5467A= (p.Ile1823=) c.5623A= (p.Ile1875=) | |
12 | g.51807076A>C | CA384887834 | SCN8A | c.5590A>C (p.Ile1864Leu) c.5467A>C (p.Ile1823Leu) c.5623A>C (p.Ile1875Leu) | |
12 | g.51807076A>G | CA384887832 | SCN8A | c.5590A>G (p.Ile1864Val) c.5467A>G (p.Ile1823Val) c.5623A>G (p.Ile1875Val) | ClinVar dbSNP |
12 | g.51807076A>T | CA384887829 | SCN8A | c.5590A>T (p.Ile1864Phe) c.5467A>T (p.Ile1823Phe) c.5623A>T (p.Ile1875Phe) | |
12 | g.51807077T>A | CA384887839 | SCN8A | c.5591T>A (p.Ile1864Asn) c.5468T>A (p.Ile1823Asn) c.5624T>A (p.Ile1875Asn) | |
12 | g.51807077T>C | CA384887845 | SCN8A | c.5591T>C (p.Ile1864Thr) c.5468T>C (p.Ile1823Thr) c.5624T>C (p.Ile1875Thr) | |
12 | g.51807077T>G | CA384887848 | SCN8A | c.5591T>G (p.Ile1864Ser) c.5468T>G (p.Ile1823Ser) c.5624T>G (p.Ile1875Ser) | |
12 | g.51807078C>A | CA480062029 | SCN8A | c.5592C>A (p.Ile1864=) c.5469C>A (p.Ile1823=) c.5625C>A (p.Ile1875=) | gnomAD v4 |
12 | g.51807078C>G | CA384887852 | SCN8A | c.5592C>G (p.Ile1864Met) c.5469C>G (p.Ile1823Met) c.5625C>G (p.Ile1875Met) | |
12 | g.51807078C>T | CA480062030 | SCN8A | c.5592C>T (p.Ile1864=) c.5469C>T (p.Ile1823=) c.5625C>T (p.Ile1875=) | COSMIC COSMIC |