Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
12 | g.51807050T>A | CA384887577 | SCN8A | c.5564T>A (p.Val1855Asp) c.5441T>A (p.Val1814Asp) c.5597T>A (p.Val1866Asp) | ClinVar dbSNP |
12 | g.51807050T>C | CA384887576 | SCN8A | c.5564T>C (p.Val1855Ala) c.5441T>C (p.Val1814Ala) c.5597T>C (p.Val1866Ala) | |
12 | g.51807050T>G | CA384887575 | SCN8A | c.5564T>G (p.Val1855Gly) c.5441T>G (p.Val1814Gly) c.5597T>G (p.Val1866Gly) | |
12 | g.51807051C>A | CA480061989 | SCN8A | c.5565C>A (p.Val1855=) c.5442C>A (p.Val1814=) c.5598C>A (p.Val1866=) | |
12 | g.51807051C= | CA2036194335 | SCN8A | c.5565C= (p.Val1855=) c.5442C= (p.Val1814=) c.5598C= (p.Val1866=) | |
12 | g.51807051C>G | CA480061988 | SCN8A | c.5565C>G (p.Val1855=) c.5442C>G (p.Val1814=) c.5598C>G (p.Val1866=) | gnomAD v4 |
12 | g.51807051C>T | CA480061986 | SCN8A | c.5565C>T (p.Val1855=) c.5442C>T (p.Val1814=) c.5598C>T (p.Val1866=) | dbSNP |
12 | g.51807052C>A | CA384887582 | SCN8A | c.5566C>A (p.Leu1856Met) c.5443C>A (p.Leu1815Met) c.5599C>A (p.Leu1867Met) | |
12 | g.51807052C>G | CA384887578 | SCN8A | c.5566C>G (p.Leu1856Val) c.5443C>G (p.Leu1815Val) c.5599C>G (p.Leu1867Val) | |
12 | g.51807052C>T | CA480061990 | SCN8A | c.5566C>T (p.Leu1856=) c.5443C>T (p.Leu1815=) c.5599C>T (p.Leu1867=) | gnomAD v4 |
12 | g.51807053T>A | CA384887588 | SCN8A | c.5567T>A (p.Leu1856Gln) c.5444T>A (p.Leu1815Gln) c.5600T>A (p.Leu1867Gln) | |
12 | g.51807053T>C | CA384887594 | SCN8A | c.5567T>C (p.Leu1856Pro) c.5444T>C (p.Leu1815Pro) c.5600T>C (p.Leu1867Pro) | |
12 | g.51807053T>G | CA384887597 | SCN8A | c.5567T>G (p.Leu1856Arg) c.5444T>G (p.Leu1815Arg) c.5600T>G (p.Leu1867Arg) | |
12 | g.51807054G>A | CA480061991 | SCN8A | c.5568G>A (p.Leu1856=) c.5445G>A (p.Leu1815=) c.5601G>A (p.Leu1867=) | |
12 | g.51807054G>C | CA480061992 | SCN8A | c.5568G>C (p.Leu1856=) c.5445G>C (p.Leu1815=) c.5601G>C (p.Leu1867=) | |
12 | g.51807054G>T | CA480061993 | SCN8A | c.5568G>T (p.Leu1856=) c.5445G>T (p.Leu1815=) c.5601G>T (p.Leu1867=) | gnomAD v4 |
12 | g.51807056del | CA2580086587 | SCN8A | c.5570del (p.Gly1857GlufsTer?) c.5447del (p.Gly1816GlufsTer?) c.5603del (p.Gly1868GlufsTer?) | ClinVar |
12 | g.51807055G>A | CA384887601 | SCN8A | c.5569G>A (p.Gly1857Arg) c.5446G>A (p.Gly1816Arg) c.5602G>A (p.Gly1868Arg) | COSMIC COSMIC |
12 | g.51807055G>C | CA384887602 | SCN8A | c.5569G>C (p.Gly1857Arg) c.5446G>C (p.Gly1816Arg) c.5602G>C (p.Gly1868Arg) | |
12 | g.51807055G= | CA2036194339 | SCN8A | c.5569G= (p.Gly1857=) c.5446G= (p.Gly1816=) c.5602G= (p.Gly1868=) | |
12 | g.51807055G>T | CA384887603 | SCN8A | c.5569G>T (p.Gly1857Ter) c.5446G>T (p.Gly1816Ter) c.5602G>T (p.Gly1868Ter) | dbSNP |
12 | g.51807056G>A | CA384887605 | SCN8A | c.5570G>A (p.Gly1857Glu) c.5447G>A (p.Gly1816Glu) c.5603G>A (p.Gly1868Glu) | |
12 | g.51807056G>C | CA384887606 | SCN8A | c.5570G>C (p.Gly1857Ala) c.5447G>C (p.Gly1816Ala) c.5603G>C (p.Gly1868Ala) | |
12 | g.51807056G>T | CA384887608 | SCN8A | c.5570G>T (p.Gly1857Val) c.5447G>T (p.Gly1816Val) c.5603G>T (p.Gly1868Val) | |
12 | g.51807057A>C | CA480061998 | SCN8A | c.5571A>C (p.Gly1857=) c.5448A>C (p.Gly1816=) c.5604A>C (p.Gly1868=) | |
12 | g.51807057A>G | CA480061999 | SCN8A | c.5571A>G (p.Gly1857=) c.5448A>G (p.Gly1816=) c.5604A>G (p.Gly1868=) | |
12 | g.51807057A>T | CA480062000 | SCN8A | c.5571A>T (p.Gly1857=) c.5448A>T (p.Gly1816=) c.5604A>T (p.Gly1868=) | |
12 | g.51807058G>A | CA384887615 | SCN8A | c.5572G>A (p.Asp1858Asn) c.5449G>A (p.Asp1817Asn) c.5605G>A (p.Asp1869Asn) | COSMIC COSMIC |
12 | g.51807058G>C | CA384887618 | SCN8A | c.5572G>C (p.Asp1858His) c.5449G>C (p.Asp1817His) c.5605G>C (p.Asp1869His) | gnomAD v4 |
12 | g.51807058G>T | CA384887623 | SCN8A | c.5572G>T (p.Asp1858Tyr) c.5449G>T (p.Asp1817Tyr) c.5605G>T (p.Asp1869Tyr) | |
12 | g.51807059A>C | CA384887631 | SCN8A | c.5573A>C (p.Asp1858Ala) c.5450A>C (p.Asp1817Ala) c.5606A>C (p.Asp1869Ala) | |
12 | g.51807059A>G | CA384887639 | SCN8A | c.5573A>G (p.Asp1858Gly) c.5450A>G (p.Asp1817Gly) c.5606A>G (p.Asp1869Gly) | |
12 | g.51807059A>T | CA384887634 | SCN8A | c.5573A>T (p.Asp1858Val) c.5450A>T (p.Asp1817Val) c.5606A>T (p.Asp1869Val) | |
12 | g.51807060T>A | CA384887647 | SCN8A | c.5574T>A (p.Asp1858Glu) c.5451T>A (p.Asp1817Glu) c.5607T>A (p.Asp1869Glu) | |
12 | g.51807060T>C | CA480062004 | SCN8A | c.5574T>C (p.Asp1858=) c.5451T>C (p.Asp1817=) c.5607T>C (p.Asp1869=) | gnomAD v4 |
12 | g.51807060T>G | CA384887675 | SCN8A | c.5574T>G (p.Asp1858Glu) c.5451T>G (p.Asp1817Glu) c.5607T>G (p.Asp1869Glu) |