| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806941C>A | CA384886333 | SCN8A | c.5332C>A (p.Leu1778Ile) c.5455C>A (p.Leu1819Ile) n.5332C>A (p.Leu1778Ile) n.5488C>A (p.Leu1830Ile) n.5455C>A (p.Leu1819Ile) | |
| 12 | g.51806941C>G | CA384886343 | SCN8A | c.5332C>G (p.Leu1778Val) c.5455C>G (p.Leu1819Val) n.5332C>G (p.Leu1778Val) n.5488C>G (p.Leu1830Val) n.5455C>G (p.Leu1819Val) | |
| 12 | g.51806941C>T | CA384886347 | SCN8A | c.5332C>T (p.Leu1778Phe) c.5455C>T (p.Leu1819Phe) n.5332C>T (p.Leu1778Phe) n.5488C>T (p.Leu1830Phe) n.5455C>T (p.Leu1819Phe) | |
| 12 | g.51806942T>A | CA384886364 | SCN8A | c.5333T>A (p.Leu1778His) c.5456T>A (p.Leu1819His) n.5333T>A (p.Leu1778His) n.5489T>A (p.Leu1830His) n.5456T>A (p.Leu1819His) | |
| 12 | g.51806942T>C | CA384886362 | SCN8A | c.5333T>C (p.Leu1778Pro) c.5456T>C (p.Leu1819Pro) n.5333T>C (p.Leu1778Pro) n.5489T>C (p.Leu1830Pro) n.5456T>C (p.Leu1819Pro) | |
| 12 | g.51806942T>G | CA384886358 | SCN8A | c.5333T>G (p.Leu1778Arg) c.5456T>G (p.Leu1819Arg) n.5333T>G (p.Leu1778Arg) n.5489T>G (p.Leu1830Arg) n.5456T>G (p.Leu1819Arg) | |
| 12 | g.51806943C>A | CA480062390 | SCN8A | c.5334C>A (p.Leu1778=) c.5457C>A (p.Leu1819=) n.5334C>A (p.Leu1778=) n.5490C>A (p.Leu1830=) n.5457C>A (p.Leu1819=) | gnomAD |
| 12 | g.51806943C>G | CA480062392 | SCN8A | c.5334C>G (p.Leu1778=) c.5457C>G (p.Leu1819=) n.5334C>G (p.Leu1778=) n.5490C>G (p.Leu1830=) n.5457C>G (p.Leu1819=) | |
| 12 | g.51806943C>T | CA480062395 | SCN8A | c.5334C>T (p.Leu1778=) c.5457C>T (p.Leu1819=) n.5334C>T (p.Leu1778=) n.5490C>T (p.Leu1830=) n.5457C>T (p.Leu1819=) | COSMIC COSMIC |
| 12 | g.51806944C>A | CA6571916 | SCN8A | c.5335C>A (p.Arg1779=) c.5458C>A (p.Arg1820=) n.5335C>A (p.Arg1779=) n.5491C>A (p.Arg1831=) n.5458C>A (p.Arg1820=) | dbSNP ExAC gnomAD |
| 12 | g.51806944C>G | CA384886366 | SCN8A | c.5335C>G (p.Arg1779Gly) c.5458C>G (p.Arg1820Gly) n.5335C>G (p.Arg1779Gly) n.5491C>G (p.Arg1831Gly) n.5458C>G (p.Arg1820Gly) | |
| 12 | g.51806944C>T | CA384886370 | SCN8A | c.5335C>T (p.Arg1779Ter) c.5458C>T (p.Arg1820Ter) n.5335C>T (p.Arg1779Ter) n.5491C>T (p.Arg1831Ter) n.5458C>T (p.Arg1820Ter) | ClinVar |
| 12 | g.51806945G>A | CA236327645 | SCN8A | c.5336G>A (p.Arg1779Gln) c.5459G>A (p.Arg1820Gln) n.5336G>A (p.Arg1779Gln) n.5492G>A (p.Arg1831Gln) n.5459G>A (p.Arg1820Gln) | ClinVar dbSNP |
| 12 | g.51806945G>C | CA384886381 | SCN8A | c.5336G>C (p.Arg1779Pro) c.5459G>C (p.Arg1820Pro) n.5336G>C (p.Arg1779Pro) n.5492G>C (p.Arg1831Pro) n.5459G>C (p.Arg1820Pro) | |
| 12 | g.51806945G>T | CA384886387 | SCN8A | c.5336G>T (p.Arg1779Leu) c.5459G>T (p.Arg1820Leu) n.5336G>T (p.Arg1779Leu) n.5492G>T (p.Arg1831Leu) n.5459G>T (p.Arg1820Leu) | COSMIC COSMIC |
| 12 | g.51806946A>C | CA480062398 | SCN8A | c.5337A>C (p.Arg1779=) c.5460A>C (p.Arg1820=) n.5337A>C (p.Arg1779=) n.5493A>C (p.Arg1831=) n.5460A>C (p.Arg1820=) | |
| 12 | g.51806946A>G | CA480062400 | SCN8A | c.5337A>G (p.Arg1779=) c.5460A>G (p.Arg1820=) n.5337A>G (p.Arg1779=) n.5493A>G (p.Arg1831=) n.5460A>G (p.Arg1820=) | |
| 12 | g.51806946A>T | CA480062401 | SCN8A | c.5337A>T (p.Arg1779=) c.5460A>T (p.Arg1820=) n.5337A>T (p.Arg1779=) n.5493A>T (p.Arg1831=) n.5460A>T (p.Arg1820=) | |
| 12 | g.51806947G>A | CA384886397 | SCN8A | c.5338G>A (p.Val1780Met) c.5461G>A (p.Val1821Met) n.5338G>A (p.Val1780Met) n.5494G>A (p.Val1832Met) n.5461G>A (p.Val1821Met) | |
| 12 | g.51806947G>C | CA384886401 | SCN8A | c.5338G>C (p.Val1780Leu) c.5461G>C (p.Val1821Leu) n.5338G>C (p.Val1780Leu) n.5494G>C (p.Val1832Leu) n.5461G>C (p.Val1821Leu) | |
| 12 | g.51806947G>T | CA384886398 | SCN8A | c.5338G>T (p.Val1780Leu) c.5461G>T (p.Val1821Leu) n.5338G>T (p.Val1780Leu) n.5494G>T (p.Val1832Leu) n.5461G>T (p.Val1821Leu) | |
| 12 | g.51806948T>A | CA384886406 | SCN8A | c.5339T>A (p.Val1780Glu) c.5462T>A (p.Val1821Glu) n.5339T>A (p.Val1780Glu) n.5495T>A (p.Val1832Glu) n.5462T>A (p.Val1821Glu) | |
| 12 | g.51806948T>C | CA384886411 | SCN8A | c.5339T>C (p.Val1780Ala) c.5462T>C (p.Val1821Ala) n.5339T>C (p.Val1780Ala) n.5495T>C (p.Val1832Ala) n.5462T>C (p.Val1821Ala) | |
| 12 | g.51806948T>G | CA384886414 | SCN8A | c.5339T>G (p.Val1780Gly) c.5462T>G (p.Val1821Gly) n.5339T>G (p.Val1780Gly) n.5495T>G (p.Val1832Gly) n.5462T>G (p.Val1821Gly) | |
| 12 | g.51806949G>A | CA480062407 | SCN8A | c.5340G>A (p.Val1780=) c.5463G>A (p.Val1821=) n.5340G>A (p.Val1780=) n.5496G>A (p.Val1832=) n.5463G>A (p.Val1821=) | |
| 12 | g.51806949G>C | CA480062408 | SCN8A | c.5340G>C (p.Val1780=) c.5463G>C (p.Val1821=) n.5340G>C (p.Val1780=) n.5496G>C (p.Val1832=) n.5463G>C (p.Val1821=) | |
| 12 | g.51806949G>T | CA480062409 | SCN8A | c.5340G>T (p.Val1780=) c.5463G>T (p.Val1821=) n.5340G>T (p.Val1780=) n.5496G>T (p.Val1832=) n.5463G>T (p.Val1821=) | |
| 12 | g.51806950C>A | CA384886441 | SCN8A | c.5341C>A (p.Pro1781Thr) c.5464C>A (p.Pro1822Thr) n.5341C>A (p.Pro1781Thr) n.5497C>A (p.Pro1833Thr) n.5464C>A (p.Pro1822Thr) | |
| 12 | g.51806950C>G | CA384886462 | SCN8A | c.5341C>G (p.Pro1781Ala) c.5464C>G (p.Pro1822Ala) n.5341C>G (p.Pro1781Ala) n.5497C>G (p.Pro1833Ala) n.5464C>G (p.Pro1822Ala) | |
| 12 | g.51806950C>T | CA384886476 | SCN8A | c.5341C>T (p.Pro1781Ser) c.5464C>T (p.Pro1822Ser) n.5341C>T (p.Pro1781Ser) n.5497C>T (p.Pro1833Ser) n.5464C>T (p.Pro1822Ser) | |
| 12 | g.51806951C>A | CA384886487 | SCN8A | c.5342C>A (p.Pro1781His) c.5465C>A (p.Pro1822His) n.5342C>A (p.Pro1781His) n.5498C>A (p.Pro1833His) n.5465C>A (p.Pro1822His) | |
| 12 | g.51806951C>G | CA384886491 | SCN8A | c.5342C>G (p.Pro1781Arg) c.5465C>G (p.Pro1822Arg) n.5342C>G (p.Pro1781Arg) n.5498C>G (p.Pro1833Arg) n.5465C>G (p.Pro1822Arg) | |
| 12 | g.51806951C>T | CA384886507 | SCN8A | c.5342C>T (p.Pro1781Leu) c.5465C>T (p.Pro1822Leu) n.5342C>T (p.Pro1781Leu) n.5498C>T (p.Pro1833Leu) n.5465C>T (p.Pro1822Leu) | |
| 12 | g.51806952C>A | CA480062411 | SCN8A | c.5343C>A (p.Pro1781=) c.5466C>A (p.Pro1822=) n.5343C>A (p.Pro1781=) n.5499C>A (p.Pro1833=) n.5466C>A (p.Pro1822=) | |
| 12 | g.51806952C>G | CA6571917 | SCN8A | c.5343C>G (p.Pro1781=) c.5466C>G (p.Pro1822=) n.5343C>G (p.Pro1781=) n.5499C>G (p.Pro1833=) n.5466C>G (p.Pro1822=) | dbSNP ExAC gnomAD |
| 12 | g.51806952C>T | CA6571918 | SCN8A | c.5343C>T (p.Pro1781=) c.5466C>T (p.Pro1822=) n.5343C>T (p.Pro1781=) n.5499C>T (p.Pro1833=) n.5466C>T (p.Pro1822=) | dbSNP ExAC gnomAD |
| 12 | g.51806953A>C | CA384886525 | SCN8A | c.5344A>C (p.Lys1782Gln) c.5467A>C (p.Lys1823Gln) n.5344A>C (p.Lys1782Gln) n.5500A>C (p.Lys1834Gln) n.5467A>C (p.Lys1823Gln) | |
| 12 | g.51806953A>G | CA6571919 | SCN8A | c.5344A>G (p.Lys1782Glu) c.5467A>G (p.Lys1823Glu) n.5344A>G (p.Lys1782Glu) n.5500A>G (p.Lys1834Glu) n.5467A>G (p.Lys1823Glu) | dbSNP ExAC gnomAD |
| 12 | g.51806953A>T | CA384886529 | SCN8A | c.5344A>T (p.Lys1782Ter) c.5467A>T (p.Lys1823Ter) n.5344A>T (p.Lys1782Ter) n.5500A>T (p.Lys1834Ter) n.5467A>T (p.Lys1823Ter) | |
| 12 | g.51806954A>C | CA384886535 | SCN8A | c.5345A>C (p.Lys1782Thr) c.5468A>C (p.Lys1823Thr) n.5345A>C (p.Lys1782Thr) n.5501A>C (p.Lys1834Thr) n.5468A>C (p.Lys1823Thr) | |
| 12 | g.51806954A>G | CA384886539 | SCN8A | c.5345A>G (p.Lys1782Arg) c.5468A>G (p.Lys1823Arg) n.5345A>G (p.Lys1782Arg) n.5501A>G (p.Lys1834Arg) n.5468A>G (p.Lys1823Arg) | |
| 12 | g.51806954A>T | CA384886540 | SCN8A | c.5345A>T (p.Lys1782Met) c.5468A>T (p.Lys1823Met) n.5345A>T (p.Lys1782Met) n.5501A>T (p.Lys1834Met) n.5468A>T (p.Lys1823Met) | |
| 12 | g.51806955G>A | CA480062417 | SCN8A | c.5346G>A (p.Lys1782=) c.5469G>A (p.Lys1823=) n.5346G>A (p.Lys1782=) n.5502G>A (p.Lys1834=) n.5469G>A (p.Lys1823=) | |
| 12 | g.51806955G>C | CA384886545 | SCN8A | c.5346G>C (p.Lys1782Asn) c.5469G>C (p.Lys1823Asn) n.5346G>C (p.Lys1782Asn) n.5502G>C (p.Lys1834Asn) n.5469G>C (p.Lys1823Asn) | |
| 12 | g.51806955G>T | CA384886546 | SCN8A | c.5346G>T (p.Lys1782Asn) c.5469G>T (p.Lys1823Asn) n.5346G>T (p.Lys1782Asn) n.5502G>T (p.Lys1834Asn) n.5469G>T (p.Lys1823Asn) | |
| 12 | g.51806956C>A | CA384886547 | SCN8A | c.5347C>A (p.Pro1783Thr) c.5470C>A (p.Pro1824Thr) n.5347C>A (p.Pro1783Thr) n.5503C>A (p.Pro1835Thr) n.5470C>A (p.Pro1824Thr) | |
| 12 | g.51806956C>G | CA384886551 | SCN8A | c.5347C>G (p.Pro1783Ala) c.5470C>G (p.Pro1824Ala) n.5347C>G (p.Pro1783Ala) n.5503C>G (p.Pro1835Ala) n.5470C>G (p.Pro1824Ala) | |
| 12 | g.51806956C>T | CA384886562 | SCN8A | c.5347C>T (p.Pro1783Ser) c.5470C>T (p.Pro1824Ser) n.5347C>T (p.Pro1783Ser) n.5503C>T (p.Pro1835Ser) n.5470C>T (p.Pro1824Ser) | |
| 12 | g.51806957C>A | CA384886570 | SCN8A | c.5348C>A (p.Pro1783His) c.5471C>A (p.Pro1824His) n.5348C>A (p.Pro1783His) n.5504C>A (p.Pro1835His) n.5471C>A (p.Pro1824His) | |
| 12 | g.51806957C>G | CA384886580 | SCN8A | c.5348C>G (p.Pro1783Arg) c.5471C>G (p.Pro1824Arg) n.5348C>G (p.Pro1783Arg) n.5504C>G (p.Pro1835Arg) n.5471C>G (p.Pro1824Arg) |