| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806948T>A | CA384886406 | SCN8A | c.5462T>A (p.Val1821Glu) c.3526T>A c.5339T>A (p.Val1780Glu) c.5495T>A (p.Val1832Glu) | |
| 12 | g.51806948T>C | CA384886411 | SCN8A | c.5462T>C (p.Val1821Ala) c.3526T>C c.5339T>C (p.Val1780Ala) c.5495T>C (p.Val1832Ala) | |
| 12 | g.51806948T>G | CA384886414 | SCN8A | c.5462T>G (p.Val1821Gly) c.3526T>G c.5339T>G (p.Val1780Gly) c.5495T>G (p.Val1832Gly) | |
| 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) |