Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806949G>A | CA480062407 | SCN8A | c.5463G>A (p.Val1821=) c.3527G>A c.5340G>A (p.Val1780=) c.5496G>A (p.Val1832=) | |
12 | g.51806949G>C | CA480062408 | SCN8A | c.5463G>C (p.Val1821=) c.3527G>C c.5340G>C (p.Val1780=) c.5496G>C (p.Val1832=) | |
12 | g.51806949G= | CA2036194088 | SCN8A | c.5463G= (p.Val1821=) c.3527G= c.5340G= (p.Val1780=) c.5496G= (p.Val1832=) | |
12 | g.51806949G>T | CA480062409 | SCN8A | c.5463G>T (p.Val1821=) c.3527G>T c.5340G>T (p.Val1780=) c.5496G>T (p.Val1832=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806950C>A | CA384886441 | SCN8A | c.5464C>A (p.Pro1822Thr) c.3528C>A c.5341C>A (p.Pro1781Thr) c.5497C>A (p.Pro1833Thr) | |
12 | g.51806950C>G | CA384886462 | SCN8A | c.5464C>G (p.Pro1822Ala) c.3528C>G c.5341C>G (p.Pro1781Ala) c.5497C>G (p.Pro1833Ala) | |
12 | g.51806950C>T | CA384886476 | SCN8A | c.5464C>T (p.Pro1822Ser) c.3528C>T c.5341C>T (p.Pro1781Ser) c.5497C>T (p.Pro1833Ser) | |
12 | g.51806951C>A | CA384886487 | SCN8A | c.5465C>A (p.Pro1822His) c.3529C>A c.5342C>A (p.Pro1781His) c.5498C>A (p.Pro1833His) | |
12 | g.51806951C>G | CA384886491 | SCN8A | c.5465C>G (p.Pro1822Arg) c.3529C>G c.5342C>G (p.Pro1781Arg) c.5498C>G (p.Pro1833Arg) | |
12 | g.51806951C>T | CA384886507 | SCN8A | c.5465C>T (p.Pro1822Leu) c.3529C>T c.5342C>T (p.Pro1781Leu) c.5498C>T (p.Pro1833Leu) | |
12 | g.51806952C>A | CA480062411 | SCN8A | c.5466C>A (p.Pro1822=) c.3530C>A c.5343C>A (p.Pro1781=) c.5499C>A (p.Pro1833=) | |
12 | g.51806952C= | CA2036194095 | SCN8A | c.5466C= (p.Pro1822=) c.3530C= c.5343C= (p.Pro1781=) c.5499C= (p.Pro1833=) | |
12 | g.51806952C>G | CA6571917 | SCN8A | c.5466C>G (p.Pro1822=) c.3530C>G c.5343C>G (p.Pro1781=) c.5499C>G (p.Pro1833=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806952C>T | CA6571918 | SCN8A | c.5466C>T (p.Pro1822=) c.3530C>T c.5343C>T (p.Pro1781=) c.5499C>T (p.Pro1833=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806953A= | CA2036194101 | SCN8A | c.5467A= (p.Lys1823=) c.3531A= c.5344A= (p.Lys1782=) c.5500A= (p.Lys1834=) | |
12 | g.51806953A>C | CA384886525 | SCN8A | c.5467A>C (p.Lys1823Gln) c.3531A>C c.5344A>C (p.Lys1782Gln) c.5500A>C (p.Lys1834Gln) | |
12 | g.51806953A>G | CA6571919 | SCN8A | c.5467A>G (p.Lys1823Glu) c.3531A>G c.5344A>G (p.Lys1782Glu) c.5500A>G (p.Lys1834Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806953A>T | CA384886529 | SCN8A | c.5467A>T (p.Lys1823Ter) c.3531A>T c.5344A>T (p.Lys1782Ter) c.5500A>T (p.Lys1834Ter) | dbSNP |
12 | g.51806954A>C | CA384886535 | SCN8A | c.5468A>C (p.Lys1823Thr) c.3532A>C c.5345A>C (p.Lys1782Thr) c.5501A>C (p.Lys1834Thr) | |
12 | g.51806954A>G | CA384886539 | SCN8A | c.5468A>G (p.Lys1823Arg) c.3532A>G c.5345A>G (p.Lys1782Arg) c.5501A>G (p.Lys1834Arg) | |
12 | g.51806954A>T | CA384886540 | SCN8A | c.5468A>T (p.Lys1823Met) c.3532A>T c.5345A>T (p.Lys1782Met) c.5501A>T (p.Lys1834Met) | |
12 | g.51806955G>A | CA480062417 | SCN8A | c.5469G>A (p.Lys1823=) c.3533G>A c.5346G>A (p.Lys1782=) c.5502G>A (p.Lys1834=) | gnomAD v4 |
12 | g.51806955G>C | CA384886545 | SCN8A | c.5469G>C (p.Lys1823Asn) c.3533G>C c.5346G>C (p.Lys1782Asn) c.5502G>C (p.Lys1834Asn) | |
12 | g.51806955G>T | CA384886546 | SCN8A | c.5469G>T (p.Lys1823Asn) c.3533G>T c.5346G>T (p.Lys1782Asn) c.5502G>T (p.Lys1834Asn) | |
12 | g.51806956C>A | CA384886547 | SCN8A | c.5470C>A (p.Pro1824Thr) c.3534C>A c.5347C>A (p.Pro1783Thr) c.5503C>A (p.Pro1835Thr) | |
12 | g.51806956C>G | CA384886551 | SCN8A | c.5470C>G (p.Pro1824Ala) c.3534C>G c.5347C>G (p.Pro1783Ala) c.5503C>G (p.Pro1835Ala) | |
12 | g.51806956C>T | CA384886562 | SCN8A | c.5470C>T (p.Pro1824Ser) c.3534C>T c.5347C>T (p.Pro1783Ser) c.5503C>T (p.Pro1835Ser) | |
12 | g.51806957C>A | CA384886570 | SCN8A | c.5471C>A (p.Pro1824His) c.3535C>A c.5348C>A (p.Pro1783His) c.5504C>A (p.Pro1835His) | |
12 | g.51806957C>G | CA384886580 | SCN8A | c.5471C>G (p.Pro1824Arg) c.3535C>G c.5348C>G (p.Pro1783Arg) c.5504C>G (p.Pro1835Arg) | |
12 | g.51806957C>T | CA384886574 | SCN8A | c.5471C>T (p.Pro1824Leu) c.3535C>T c.5348C>T (p.Pro1783Leu) c.5504C>T (p.Pro1835Leu) | |
12 | g.51806958C>A | CA155097 | SCN8A | c.5472C>A (p.Pro1824=) c.3536C>A c.5349C>A (p.Pro1783=) c.5505C>A (p.Pro1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806958C= | CA2036194122 | SCN8A | c.5472C= (p.Pro1824=) c.3536C= c.5349C= (p.Pro1783=) c.5505C= (p.Pro1835=) | |
12 | g.51806958C>G | CA6571920 | SCN8A | c.5472C>G (p.Pro1824=) c.3536C>G c.5349C>G (p.Pro1783=) c.5505C>G (p.Pro1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806958C>T | CA236327655 | SCN8A | c.5472C>T (p.Pro1824=) c.3536C>T c.5349C>T (p.Pro1783=) c.5505C>T (p.Pro1835=) | dbSNP |
12 | g.51806958_51806959insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA | CA947652706 | SCN8A | c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1824_Asn1825insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) c.3536_3537insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1783_Asn1784insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) c.5505_5506insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1835_Asn1836insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) | gnomAD v3 gnomAD v4 |
12 | g.51806959A>C | CA384886591 | SCN8A | c.5473A>C (p.Asn1825His) c.3537A>C c.5350A>C (p.Asn1784His) c.5506A>C (p.Asn1836His) | |
12 | g.51806959A>G | CA384886593 | SCN8A | c.5473A>G (p.Asn1825Asp) c.3537A>G c.5350A>G (p.Asn1784Asp) c.5506A>G (p.Asn1836Asp) | |
12 | g.51806959A>T | CA384886604 | SCN8A | c.5473A>T (p.Asn1825Tyr) c.3537A>T c.5350A>T (p.Asn1784Tyr) c.5506A>T (p.Asn1836Tyr) | |
12 | g.51806960A= | CA2036194144 | SCN8A | c.5474A= (p.Asn1825=) c.3538A= c.5351A= (p.Asn1784=) c.5507A= (p.Asn1836=) | |
12 | g.51806960A>C | CA384886610 | SCN8A | c.5474A>C (p.Asn1825Thr) c.3538A>C c.5351A>C (p.Asn1784Thr) c.5507A>C (p.Asn1836Thr) | |
12 | g.51806960A>G | CA384886613 | SCN8A | c.5474A>G (p.Asn1825Ser) c.3538A>G c.5351A>G (p.Asn1784Ser) c.5507A>G (p.Asn1836Ser) | dbSNP gnomAD v4 |
12 | g.51806960A>T | CA384886612 | SCN8A | c.5474A>T (p.Asn1825Ile) c.3538A>T c.5351A>T (p.Asn1784Ile) c.5507A>T (p.Asn1836Ile) | |
12 | g.51806961T>A | CA384886617 | SCN8A | c.5475T>A (p.Asn1825Lys) c.3539T>A c.5352T>A (p.Asn1784Lys) c.5508T>A (p.Asn1836Lys) | dbSNP |
12 | g.51806961T>C | CA6571921 | SCN8A | c.5475T>C (p.Asn1825=) c.3539T>C c.5352T>C (p.Asn1784=) c.5508T>C (p.Asn1836=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806961T>G | CA384886618 | SCN8A | c.5475T>G (p.Asn1825Lys) c.3539T>G c.5352T>G (p.Asn1784Lys) c.5508T>G (p.Asn1836Lys) | |
12 | g.51806961T= | CA2036194153 | SCN8A | c.5475T= (p.Asn1825=) c.3539T= c.5352T= (p.Asn1784=) c.5508T= (p.Asn1836=) | |
12 | g.51806962A>C | CA384886623 | SCN8A | c.5476A>C (p.Thr1826Pro) c.3540A>C c.5353A>C (p.Thr1785Pro) c.5509A>C (p.Thr1837Pro) | |
12 | g.51806962A>G | CA384886628 | SCN8A | c.5476A>G (p.Thr1826Ala) c.3540A>G c.5353A>G (p.Thr1785Ala) c.5509A>G (p.Thr1837Ala) | gnomAD v4 |
12 | g.51806962A>T | CA384886635 | SCN8A | c.5476A>T (p.Thr1826Ser) c.3540A>T c.5353A>T (p.Thr1785Ser) c.5509A>T (p.Thr1837Ser) | |
12 | g.51806963C>A | CA384886636 | SCN8A | c.5477C>A (p.Thr1826Asn) c.3541C>A c.5354C>A (p.Thr1785Asn) c.5510C>A (p.Thr1837Asn) | |
12 | g.51806963C>G | CA384886637 | SCN8A | c.5477C>G (p.Thr1826Ser) c.3541C>G c.5354C>G (p.Thr1785Ser) c.5510C>G (p.Thr1837Ser) | gnomAD v4 |
12 | g.51806963C>T | CA384886638 | SCN8A | c.5477C>T (p.Thr1826Ile) c.3541C>T c.5354C>T (p.Thr1785Ile) c.5510C>T (p.Thr1837Ile) | |
12 | g.51806964C>A | CA480061857 | SCN8A | c.5478C>A (p.Thr1826=) c.3542C>A c.5355C>A (p.Thr1785=) c.5511C>A (p.Thr1837=) | |
12 | g.51806964C>G | CA480061858 | SCN8A | c.5478C>G (p.Thr1826=) c.3542C>G c.5355C>G (p.Thr1785=) c.5511C>G (p.Thr1837=) | |
12 | g.51806964C>T | CA480061859 | SCN8A | c.5478C>T (p.Thr1826=) c.3542C>T c.5355C>T (p.Thr1785=) c.5511C>T (p.Thr1837=) | gnomAD v4 |
12 | g.51806965A= | CA2036194160 | SCN8A | c.5479A= (p.Ile1827=) c.3543A= c.5356A= (p.Ile1786=) c.5512A= (p.Ile1838=) | |
12 | g.51806965A>C | CA384886640 | SCN8A | c.5479A>C (p.Ile1827Leu) c.3543A>C c.5356A>C (p.Ile1786Leu) c.5512A>C (p.Ile1838Leu) | |
12 | g.51806965A>G | CA6571922 | SCN8A | c.5479A>G (p.Ile1827Val) c.3543A>G c.5356A>G (p.Ile1786Val) c.5512A>G (p.Ile1838Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806965A>T | CA384886643 | SCN8A | c.5479A>T (p.Ile1827Phe) c.3543A>T c.5356A>T (p.Ile1786Phe) c.5512A>T (p.Ile1838Phe) | |
12 | g.51806966T>A | CA384886650 | SCN8A | c.5480T>A (p.Ile1827Asn) c.3544T>A c.5357T>A (p.Ile1786Asn) c.5513T>A (p.Ile1838Asn) | |
12 | g.51806966T>C | CA384886661 | SCN8A | c.5480T>C (p.Ile1827Thr) c.3544T>C c.5357T>C (p.Ile1786Thr) c.5513T>C (p.Ile1838Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.51806966T>G | CA384886658 | SCN8A | c.5480T>G (p.Ile1827Ser) c.3544T>G c.5357T>G (p.Ile1786Ser) c.5513T>G (p.Ile1838Ser) | |
12 | g.51806966T= | CA2036194171 | SCN8A | c.5480T= (p.Ile1827=) c.3544T= c.5357T= (p.Ile1786=) c.5513T= (p.Ile1838=) | |
12 | g.51806967T>A | CA480061862 | SCN8A | c.5481T>A (p.Ile1827=) c.3545T>A c.5358T>A (p.Ile1786=) c.5514T>A (p.Ile1838=) | |
12 | g.51806967T>C | CA480061864 | SCN8A | c.5481T>C (p.Ile1827=) c.3545T>C c.5358T>C (p.Ile1786=) c.5514T>C (p.Ile1838=) | |
12 | g.51806967T>G | CA384886662 | SCN8A | c.5481T>G (p.Ile1827Met) c.3545T>G c.5358T>G (p.Ile1786Met) c.5514T>G (p.Ile1838Met) | |
12 | g.51806968G>A | CA384886665 | SCN8A | c.5482G>A (p.Glu1828Lys) c.3546G>A c.5359G>A (p.Glu1787Lys) c.5515G>A (p.Glu1839Lys) | |
12 | g.51806968G>C | CA384886669 | SCN8A | c.5482G>C (p.Glu1828Gln) c.3546G>C c.5359G>C (p.Glu1787Gln) c.5515G>C (p.Glu1839Gln) | gnomAD v4 |
12 | g.51806968G= | CA2036194181 | SCN8A | c.5482G= (p.Glu1828=) c.3546G= c.5359G= (p.Glu1787=) c.5515G= (p.Glu1839=) | |
12 | g.51806968G>T | CA384886672 | SCN8A | c.5482G>T (p.Glu1828Ter) c.3546G>T c.5359G>T (p.Glu1787Ter) c.5515G>T (p.Glu1839Ter) | dbSNP |
12 | g.51806969A>C | CA384886690 | SCN8A | c.5483A>C (p.Glu1828Ala) c.3547A>C c.5360A>C (p.Glu1787Ala) c.5516A>C (p.Glu1839Ala) | |
12 | g.51806969A>G | CA384886691 | SCN8A | c.5483A>G (p.Glu1828Gly) c.3547A>G c.5360A>G (p.Glu1787Gly) c.5516A>G (p.Glu1839Gly) | |
12 | g.51806969A>T | CA384886696 | SCN8A | c.5483A>T (p.Glu1828Val) c.3547A>T c.5360A>T (p.Glu1787Val) c.5516A>T (p.Glu1839Val) | |
12 | g.51806970G>A | CA480061866 | SCN8A | c.5484G>A (p.Glu1828=) c.3548G>A c.5361G>A (p.Glu1787=) c.5517G>A (p.Glu1839=) | gnomAD v4 |
12 | g.51806970G>C | CA384886702 | SCN8A | c.5484G>C (p.Glu1828Asp) c.3548G>C c.5361G>C (p.Glu1787Asp) c.5517G>C (p.Glu1839Asp) | |
12 | g.51806970G>T | CA384886714 | SCN8A | c.5484G>T (p.Glu1828Asp) c.3548G>T c.5361G>T (p.Glu1787Asp) c.5517G>T (p.Glu1839Asp) | gnomAD v4 |
12 | g.51806971C>A | CA384886726 | SCN8A | c.5485C>A (p.Leu1829Ile) c.3549C>A c.5362C>A (p.Leu1788Ile) c.5518C>A (p.Leu1840Ile) | |
12 | g.51806971C= | CA2036194183 | SCN8A | c.5485C= (p.Leu1829=) c.3549C= c.5362C= (p.Leu1788=) c.5518C= (p.Leu1840=) | |
12 | g.51806971C>G | CA384886745 | SCN8A | c.5485C>G (p.Leu1829Val) c.3549C>G c.5362C>G (p.Leu1788Val) c.5518C>G (p.Leu1840Val) | |
12 | g.51806971C>T | CA6571923 | SCN8A | c.5485C>T (p.Leu1829Phe) c.3549C>T c.5362C>T (p.Leu1788Phe) c.5518C>T (p.Leu1840Phe) | dbSNP ExAC |
12 | g.51806972T>A | CA384886786 | SCN8A | c.5486T>A (p.Leu1829His) c.3550T>A c.5363T>A (p.Leu1788His) c.5519T>A (p.Leu1840His) | |
12 | g.51806972T>C | CA384886761 | SCN8A | c.5486T>C (p.Leu1829Pro) c.3550T>C c.5363T>C (p.Leu1788Pro) c.5519T>C (p.Leu1840Pro) | |
12 | g.51806972T>G | CA384886780 | SCN8A | c.5486T>G (p.Leu1829Arg) c.3550T>G c.5363T>G (p.Leu1788Arg) c.5519T>G (p.Leu1840Arg) | |
12 | g.51806973C>A | CA480061869 | SCN8A | c.5487C>A (p.Leu1829=) c.3551C>A c.5364C>A (p.Leu1788=) c.5520C>A (p.Leu1840=) | |
12 | g.51806973C= | CA2036194186 | SCN8A | c.5487C= (p.Leu1829=) c.3551C= c.5364C= (p.Leu1788=) c.5520C= (p.Leu1840=) | |
12 | g.51806973C>G | CA480061870 | SCN8A | c.5487C>G (p.Leu1829=) c.3551C>G c.5364C>G (p.Leu1788=) c.5520C>G (p.Leu1840=) | dbSNP |
12 | g.51806973C>T | CA480061873 | SCN8A | c.5487C>T (p.Leu1829=) c.3551C>T c.5364C>T (p.Leu1788=) c.5520C>T (p.Leu1840=) | dbSNP COSMIC COSMIC |
12 | g.51806974A>C | CA384886801 | SCN8A | c.5488A>C (p.Ile1830Leu) c.3552A>C c.5365A>C (p.Ile1789Leu) c.5521A>C (p.Ile1841Leu) | |
12 | g.51806974A>G | CA384886804 | SCN8A | c.5488A>G (p.Ile1830Val) c.3552A>G c.5365A>G (p.Ile1789Val) c.5521A>G (p.Ile1841Val) | |
12 | g.51806974A>T | CA384886815 | SCN8A | c.5488A>T (p.Ile1830Phe) c.3552A>T c.5365A>T (p.Ile1789Phe) c.5521A>T (p.Ile1841Phe) | gnomAD v4 |
12 | g.51806975T>A | CA384886818 | SCN8A | c.5489T>A (p.Ile1830Asn) c.3553T>A c.5366T>A (p.Ile1789Asn) c.5522T>A (p.Ile1841Asn) | |
12 | g.51806975T>C | CA384886819 | SCN8A | c.5489T>C (p.Ile1830Thr) c.3553T>C c.5366T>C (p.Ile1789Thr) c.5522T>C (p.Ile1841Thr) | |
12 | g.51806975T>G | CA384886820 | SCN8A | c.5489T>G (p.Ile1830Ser) c.3553T>G c.5366T>G (p.Ile1789Ser) c.5522T>G (p.Ile1841Ser) | |
12 | g.51806976C>A | CA480061875 | SCN8A | c.5490C>A (p.Ile1830=) c.3554C>A c.5367C>A (p.Ile1789=) c.5523C>A (p.Ile1841=) | |
12 | g.51806976C= | CA2036194189 | SCN8A | c.5490C= (p.Ile1830=) c.3554C= c.5367C= (p.Ile1789=) c.5523C= (p.Ile1841=) | |
12 | g.51806976C>G | CA384886824 | SCN8A | c.5490C>G (p.Ile1830Met) c.3554C>G c.5367C>G (p.Ile1789Met) c.5523C>G (p.Ile1841Met) | |
12 | g.51806976C>T | CA6571924 | SCN8A | c.5490C>T (p.Ile1830=) c.3554C>T c.5367C>T (p.Ile1789=) c.5523C>T (p.Ile1841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806977G>A | CA6571925 | SCN8A | c.5491G>A (p.Ala1831Thr) c.3555G>A c.5368G>A (p.Ala1790Thr) c.5524G>A (p.Ala1842Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806977G>C | CA384886847 | SCN8A | c.5491G>C (p.Ala1831Pro) c.3555G>C c.5368G>C (p.Ala1790Pro) c.5524G>C (p.Ala1842Pro) | |
12 | g.51806977G= | CA2036194203 | SCN8A | c.5491G= (p.Ala1831=) c.3555G= c.5368G= (p.Ala1790=) c.5524G= (p.Ala1842=) | |
12 | g.51806977G>T | CA384886850 | SCN8A | c.5491G>T (p.Ala1831Ser) c.3555G>T c.5368G>T (p.Ala1790Ser) c.5524G>T (p.Ala1842Ser) | |
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) |