Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806943C>A | CA480062390 | SCN8A | c.5457C>A (p.Leu1819=) c.3521C>A c.5334C>A (p.Leu1778=) c.5490C>A (p.Leu1830=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806943C= | CA2036194052 | SCN8A | c.5457C= (p.Leu1819=) c.3521C= c.5334C= (p.Leu1778=) c.5490C= (p.Leu1830=) | |
12 | g.51806943C>G | CA480062392 | SCN8A | c.5457C>G (p.Leu1819=) c.3521C>G c.5334C>G (p.Leu1778=) c.5490C>G (p.Leu1830=) | |
12 | g.51806943C>T | CA480062395 | SCN8A | c.5457C>T (p.Leu1819=) c.3521C>T c.5334C>T (p.Leu1778=) c.5490C>T (p.Leu1830=) | gnomAD v4 COSMIC COSMIC |
12 | g.51806944C>A | CA6571916 | SCN8A | c.5458C>A (p.Arg1820=) c.3522C>A c.5335C>A (p.Arg1779=) c.5491C>A (p.Arg1831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806944C= | CA2036194058 | SCN8A | c.5458C= (p.Arg1820=) c.3522C= c.5335C= (p.Arg1779=) c.5491C= (p.Arg1831=) | |
12 | g.51806944C>G | CA384886366 | SCN8A | c.5458C>G (p.Arg1820Gly) c.3522C>G c.5335C>G (p.Arg1779Gly) c.5491C>G (p.Arg1831Gly) | |
12 | g.51806944C>T | CA384886370 | SCN8A | c.5458C>T (p.Arg1820Ter) c.3522C>T c.5335C>T (p.Arg1779Ter) c.5491C>T (p.Arg1831Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.51806945G>A | CA236327645 | SCN8A | c.5459G>A (p.Arg1820Gln) c.3523G>A c.5336G>A (p.Arg1779Gln) c.5492G>A (p.Arg1831Gln) | ClinVar dbSNP gnomAD v4 |
12 | g.51806945G>C | CA384886381 | SCN8A | c.5459G>C (p.Arg1820Pro) c.3523G>C c.5336G>C (p.Arg1779Pro) c.5492G>C (p.Arg1831Pro) | |
12 | g.51806945G= | CA2036194074 | SCN8A | c.5459G= (p.Arg1820=) c.3523G= c.5336G= (p.Arg1779=) c.5492G= (p.Arg1831=) | |
12 | g.51806945G>T | CA384886387 | SCN8A | c.5459G>T (p.Arg1820Leu) c.3523G>T c.5336G>T (p.Arg1779Leu) c.5492G>T (p.Arg1831Leu) | COSMIC COSMIC |
12 | g.51806946A>C | CA480062398 | SCN8A | c.5460A>C (p.Arg1820=) c.3524A>C c.5337A>C (p.Arg1779=) c.5493A>C (p.Arg1831=) | |
12 | g.51806946A>G | CA480062400 | SCN8A | c.5460A>G (p.Arg1820=) c.3524A>G c.5337A>G (p.Arg1779=) c.5493A>G (p.Arg1831=) | |
12 | g.51806946A>T | CA480062401 | SCN8A | c.5460A>T (p.Arg1820=) c.3524A>T c.5337A>T (p.Arg1779=) c.5493A>T (p.Arg1831=) | gnomAD v4 |
12 | g.51806947G>A | CA384886397 | SCN8A | c.5461G>A (p.Val1821Met) c.3525G>A c.5338G>A (p.Val1780Met) c.5494G>A (p.Val1832Met) | |
12 | g.51806947G>C | CA384886401 | SCN8A | c.5461G>C (p.Val1821Leu) c.3525G>C c.5338G>C (p.Val1780Leu) c.5494G>C (p.Val1832Leu) | |
12 | g.51806947G>T | CA384886398 | SCN8A | c.5461G>T (p.Val1821Leu) c.3525G>T c.5338G>T (p.Val1780Leu) c.5494G>T (p.Val1832Leu) | |
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) |