| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51807041C>A | CA384887478 | SCN8A | c.5432C>A (p.Thr1811Asn) c.5555C>A (p.Thr1852Asn) n.5432C>A (p.Thr1811Asn) n.5588C>A (p.Thr1863Asn) n.5555C>A (p.Thr1852Asn) | |
| 12 | g.51807041C>G | CA384887503 | SCN8A | c.5432C>G (p.Thr1811Ser) c.5555C>G (p.Thr1852Ser) n.5432C>G (p.Thr1811Ser) n.5588C>G (p.Thr1863Ser) n.5555C>G (p.Thr1852Ser) | |
| 12 | g.51807041C>T | CA318298 | SCN8A | c.5432C>T (p.Thr1811Ile) c.5555C>T (p.Thr1852Ile) n.5432C>T (p.Thr1811Ile) n.5588C>T (p.Thr1863Ile) n.5555C>T (p.Thr1852Ile) | ClinVar dbSNP |
| 12 | g.51807042C>A | CA480061971 | SCN8A | c.5433C>A (p.Thr1811=) c.5556C>A (p.Thr1852=) n.5433C>A (p.Thr1811=) n.5589C>A (p.Thr1863=) n.5556C>A (p.Thr1852=) | |
| 12 | g.51807042C>G | CA480061973 | SCN8A | c.5433C>G (p.Thr1811=) c.5556C>G (p.Thr1852=) n.5433C>G (p.Thr1811=) n.5589C>G (p.Thr1863=) n.5556C>G (p.Thr1852=) | |
| 12 | g.51807042C>T | CA480061974 | SCN8A | c.5433C>T (p.Thr1811=) c.5556C>T (p.Thr1852=) n.5433C>T (p.Thr1811=) n.5589C>T (p.Thr1863=) n.5556C>T (p.Thr1852=) | |
| 12 | g.51807043A>C | CA384887519 | SCN8A | c.5434A>C (p.Lys1812Gln) c.5557A>C (p.Lys1853Gln) n.5434A>C (p.Lys1812Gln) n.5590A>C (p.Lys1864Gln) n.5557A>C (p.Lys1853Gln) | |
| 12 | g.51807043A>G | CA384887524 | SCN8A | c.5434A>G (p.Lys1812Glu) c.5557A>G (p.Lys1853Glu) n.5434A>G (p.Lys1812Glu) n.5590A>G (p.Lys1864Glu) n.5557A>G (p.Lys1853Glu) | |
| 12 | g.51807043A>T | CA384887530 | SCN8A | c.5434A>T (p.Lys1812Ter) c.5557A>T (p.Lys1853Ter) n.5434A>T (p.Lys1812Ter) n.5590A>T (p.Lys1864Ter) n.5557A>T (p.Lys1853Ter) | |
| 12 | g.51807044A>C | CA384887546 | SCN8A | c.5435A>C (p.Lys1812Thr) c.5558A>C (p.Lys1853Thr) n.5435A>C (p.Lys1812Thr) n.5591A>C (p.Lys1864Thr) n.5558A>C (p.Lys1853Thr) | ClinVar |
| 12 | g.51807044A>G | CA384887536 | SCN8A | c.5435A>G (p.Lys1812Arg) c.5558A>G (p.Lys1853Arg) n.5435A>G (p.Lys1812Arg) n.5591A>G (p.Lys1864Arg) n.5558A>G (p.Lys1853Arg) | ClinVar gnomAD |
| 12 | g.51807044A>T | CA384887537 | SCN8A | c.5435A>T (p.Lys1812Met) c.5558A>T (p.Lys1853Met) n.5435A>T (p.Lys1812Met) n.5591A>T (p.Lys1864Met) n.5558A>T (p.Lys1853Met) | |
| 12 | g.51807045G>A | CA6571929 | SCN8A | c.5436G>A (p.Lys1812=) c.5559G>A (p.Lys1853=) n.5436G>A (p.Lys1812=) n.5592G>A (p.Lys1864=) n.5559G>A (p.Lys1853=) | dbSNP ExAC gnomAD |
| 12 | g.51807045G>C | CA384887552 | SCN8A | c.5436G>C (p.Lys1812Asn) c.5559G>C (p.Lys1853Asn) n.5436G>C (p.Lys1812Asn) n.5592G>C (p.Lys1864Asn) n.5559G>C (p.Lys1853Asn) | |
| 12 | g.51807045G>T | CA384887555 | SCN8A | c.5436G>T (p.Lys1812Asn) c.5559G>T (p.Lys1853Asn) n.5436G>T (p.Lys1812Asn) n.5592G>T (p.Lys1864Asn) n.5559G>T (p.Lys1853Asn) | |
| 12 | g.51807046C>A | CA480061977 | SCN8A | c.5437C>A (p.Arg1813=) c.5560C>A (p.Arg1854=) n.5437C>A (p.Arg1813=) n.5593C>A (p.Arg1865=) n.5560C>A (p.Arg1854=) | |
| 12 | g.51807046C>G | CA384887560 | SCN8A | c.5437C>G (p.Arg1813Gly) c.5560C>G (p.Arg1854Gly) n.5437C>G (p.Arg1813Gly) n.5593C>G (p.Arg1865Gly) n.5560C>G (p.Arg1854Gly) | |
| 12 | g.51807046C>T | CA384887561 | SCN8A | c.5437C>T (p.Arg1813Trp) c.5560C>T (p.Arg1854Trp) n.5437C>T (p.Arg1813Trp) n.5593C>T (p.Arg1865Trp) n.5560C>T (p.Arg1854Trp) | COSMIC COSMIC |
| 12 | g.51807047G>A | CA236327685 | SCN8A | c.5438G>A (p.Arg1813Gln) c.5561G>A (p.Arg1854Gln) n.5438G>A (p.Arg1813Gln) n.5594G>A (p.Arg1865Gln) n.5561G>A (p.Arg1854Gln) | dbSNP |
| 12 | g.51807047G>C | CA384887565 | SCN8A | c.5438G>C (p.Arg1813Pro) c.5561G>C (p.Arg1854Pro) n.5438G>C (p.Arg1813Pro) n.5594G>C (p.Arg1865Pro) n.5561G>C (p.Arg1854Pro) | |
| 12 | g.51807047G>T | CA384887566 | SCN8A | c.5438G>T (p.Arg1813Leu) c.5561G>T (p.Arg1854Leu) n.5438G>T (p.Arg1813Leu) n.5594G>T (p.Arg1865Leu) n.5561G>T (p.Arg1854Leu) | |
| 12 | g.51807048G>A | CA480061982 | SCN8A | c.5439G>A (p.Arg1813=) c.5562G>A (p.Arg1854=) n.5439G>A (p.Arg1813=) n.5595G>A (p.Arg1865=) n.5562G>A (p.Arg1854=) | gnomAD |
| 12 | g.51807048G>C | CA480061983 | SCN8A | c.5439G>C (p.Arg1813=) c.5562G>C (p.Arg1854=) n.5439G>C (p.Arg1813=) n.5595G>C (p.Arg1865=) n.5562G>C (p.Arg1854=) | |
| 12 | g.51807048G>T | CA480061984 | SCN8A | c.5439G>T (p.Arg1813=) c.5562G>T (p.Arg1854=) n.5439G>T (p.Arg1813=) n.5595G>T (p.Arg1865=) n.5562G>T (p.Arg1854=) | |
| 12 | g.51807049G>A | CA384887567 | SCN8A | c.5440G>A (p.Val1814Ile) c.5563G>A (p.Val1855Ile) n.5440G>A (p.Val1814Ile) n.5596G>A (p.Val1866Ile) n.5563G>A (p.Val1855Ile) | |
| 12 | g.51807049G>C | CA384887569 | SCN8A | c.5440G>C (p.Val1814Leu) c.5563G>C (p.Val1855Leu) n.5440G>C (p.Val1814Leu) n.5596G>C (p.Val1866Leu) n.5563G>C (p.Val1855Leu) | |
| 12 | g.51807049G>T | CA384887570 | SCN8A | c.5440G>T (p.Val1814Phe) c.5563G>T (p.Val1855Phe) n.5440G>T (p.Val1814Phe) n.5596G>T (p.Val1866Phe) n.5563G>T (p.Val1855Phe) | |
| 12 | g.51807050T>A | CA384887577 | SCN8A | c.5441T>A (p.Val1814Asp) c.5564T>A (p.Val1855Asp) n.5441T>A (p.Val1814Asp) n.5597T>A (p.Val1866Asp) n.5564T>A (p.Val1855Asp) | |
| 12 | g.51807050T>C | CA384887576 | SCN8A | c.5441T>C (p.Val1814Ala) c.5564T>C (p.Val1855Ala) n.5441T>C (p.Val1814Ala) n.5597T>C (p.Val1866Ala) n.5564T>C (p.Val1855Ala) | |
| 12 | g.51807050T>G | CA384887575 | SCN8A | c.5441T>G (p.Val1814Gly) c.5564T>G (p.Val1855Gly) n.5441T>G (p.Val1814Gly) n.5597T>G (p.Val1866Gly) n.5564T>G (p.Val1855Gly) | |
| 12 | g.51807051C>A | CA480061989 | SCN8A | c.5442C>A (p.Val1814=) c.5565C>A (p.Val1855=) n.5442C>A (p.Val1814=) n.5598C>A (p.Val1866=) n.5565C>A (p.Val1855=) | |
| 12 | g.51807051C>G | CA480061988 | SCN8A | c.5442C>G (p.Val1814=) c.5565C>G (p.Val1855=) n.5442C>G (p.Val1814=) n.5598C>G (p.Val1866=) n.5565C>G (p.Val1855=) | |
| 12 | g.51807051C>T | CA480061986 | SCN8A | c.5442C>T (p.Val1814=) c.5565C>T (p.Val1855=) n.5442C>T (p.Val1814=) n.5598C>T (p.Val1866=) n.5565C>T (p.Val1855=) | |
| 12 | g.51807052C>A | CA384887582 | SCN8A | c.5443C>A (p.Leu1815Met) c.5566C>A (p.Leu1856Met) n.5443C>A (p.Leu1815Met) n.5599C>A (p.Leu1867Met) n.5566C>A (p.Leu1856Met) | |
| 12 | g.51807052C>G | CA384887578 | SCN8A | c.5443C>G (p.Leu1815Val) c.5566C>G (p.Leu1856Val) n.5443C>G (p.Leu1815Val) n.5599C>G (p.Leu1867Val) n.5566C>G (p.Leu1856Val) | |
| 12 | g.51807052C>T | CA480061990 | SCN8A | c.5443C>T (p.Leu1815=) c.5566C>T (p.Leu1856=) n.5443C>T (p.Leu1815=) n.5599C>T (p.Leu1867=) n.5566C>T (p.Leu1856=) | |
| 12 | g.51807053T>A | CA384887588 | SCN8A | c.5444T>A (p.Leu1815Gln) c.5567T>A (p.Leu1856Gln) n.5444T>A (p.Leu1815Gln) n.5600T>A (p.Leu1867Gln) n.5567T>A (p.Leu1856Gln) | |
| 12 | g.51807053T>C | CA384887594 | SCN8A | c.5444T>C (p.Leu1815Pro) c.5567T>C (p.Leu1856Pro) n.5444T>C (p.Leu1815Pro) n.5600T>C (p.Leu1867Pro) n.5567T>C (p.Leu1856Pro) | |
| 12 | g.51807053T>G | CA384887597 | SCN8A | c.5444T>G (p.Leu1815Arg) c.5567T>G (p.Leu1856Arg) n.5444T>G (p.Leu1815Arg) n.5600T>G (p.Leu1867Arg) n.5567T>G (p.Leu1856Arg) | |
| 12 | g.51807054G>A | CA480061991 | SCN8A | c.5445G>A (p.Leu1815=) c.5568G>A (p.Leu1856=) n.5445G>A (p.Leu1815=) n.5601G>A (p.Leu1867=) n.5568G>A (p.Leu1856=) | |
| 12 | g.51807054G>C | CA480061992 | SCN8A | c.5445G>C (p.Leu1815=) c.5568G>C (p.Leu1856=) n.5445G>C (p.Leu1815=) n.5601G>C (p.Leu1867=) n.5568G>C (p.Leu1856=) | |
| 12 | g.51807054G>T | CA480061993 | SCN8A | c.5445G>T (p.Leu1815=) c.5568G>T (p.Leu1856=) n.5445G>T (p.Leu1815=) n.5601G>T (p.Leu1867=) n.5568G>T (p.Leu1856=) | |
| 12 | g.51807055G>A | CA384887601 | SCN8A | c.5446G>A (p.Gly1816Arg) c.5569G>A (p.Gly1857Arg) n.5446G>A (p.Gly1816Arg) n.5602G>A (p.Gly1868Arg) n.5569G>A (p.Gly1857Arg) | COSMIC COSMIC |
| 12 | g.51807055G>C | CA384887602 | SCN8A | c.5446G>C (p.Gly1816Arg) c.5569G>C (p.Gly1857Arg) n.5446G>C (p.Gly1816Arg) n.5602G>C (p.Gly1868Arg) n.5569G>C (p.Gly1857Arg) | |
| 12 | g.51807055G>T | CA384887603 | SCN8A | c.5446G>T (p.Gly1816Ter) c.5569G>T (p.Gly1857Ter) n.5446G>T (p.Gly1816Ter) n.5602G>T (p.Gly1868Ter) n.5569G>T (p.Gly1857Ter) | |
| 12 | g.51807056G>A | CA384887605 | SCN8A | c.5447G>A (p.Gly1816Glu) c.5570G>A (p.Gly1857Glu) n.5447G>A (p.Gly1816Glu) n.5603G>A (p.Gly1868Glu) n.5570G>A (p.Gly1857Glu) | |
| 12 | g.51807056G>C | CA384887606 | SCN8A | c.5447G>C (p.Gly1816Ala) c.5570G>C (p.Gly1857Ala) n.5447G>C (p.Gly1816Ala) n.5603G>C (p.Gly1868Ala) n.5570G>C (p.Gly1857Ala) | |
| 12 | g.51807056G>T | CA384887608 | SCN8A | c.5447G>T (p.Gly1816Val) c.5570G>T (p.Gly1857Val) n.5447G>T (p.Gly1816Val) n.5603G>T (p.Gly1868Val) n.5570G>T (p.Gly1857Val) | |
| 12 | g.51807057A>C | CA480061998 | SCN8A | c.5448A>C (p.Gly1816=) c.5571A>C (p.Gly1857=) n.5448A>C (p.Gly1816=) n.5604A>C (p.Gly1868=) n.5571A>C (p.Gly1857=) | |
| 12 | g.51807057A>G | CA480061999 | SCN8A | c.5448A>G (p.Gly1816=) c.5571A>G (p.Gly1857=) n.5448A>G (p.Gly1816=) n.5604A>G (p.Gly1868=) n.5571A>G (p.Gly1857=) |