Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806867A>C | CA384885701 | SCN8A | c.5381A>C (p.Lys1794Thr) c.3445A>C c.5258A>C (p.Lys1753Thr) c.5414A>C (p.Lys1805Thr) | |
12 | g.51806867A>G | CA384885709 | SCN8A | c.5381A>G (p.Lys1794Arg) c.3445A>G c.5258A>G (p.Lys1753Arg) c.5414A>G (p.Lys1805Arg) | |
12 | g.51806867A>T | CA384885706 | SCN8A | c.5381A>T (p.Lys1794Met) c.3445A>T c.5258A>T (p.Lys1753Met) c.5414A>T (p.Lys1805Met) | gnomAD v4 |
12 | g.51806868G>A | CA6571912 | SCN8A | c.5382G>A (p.Lys1794=) c.3446G>A c.5259G>A (p.Lys1753=) c.5415G>A (p.Lys1805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806868G>C | CA384885719 | SCN8A | c.5382G>C (p.Lys1794Asn) c.3446G>C c.5259G>C (p.Lys1753Asn) c.5415G>C (p.Lys1805Asn) | |
12 | g.51806868G= | CA2036193915 | SCN8A | c.5382G= (p.Lys1794=) c.3446G= c.5259G= (p.Lys1753=) c.5415G= (p.Lys1805=) | |
12 | g.51806868G>T | CA384885721 | SCN8A | c.5382G>T (p.Lys1794Asn) c.3446G>T c.5259G>T (p.Lys1753Asn) c.5415G>T (p.Lys1805Asn) | |
12 | g.51806869T>A | CA384885725 | SCN8A | c.5383T>A (p.Phe1795Ile) c.3447T>A c.5260T>A (p.Phe1754Ile) c.5416T>A (p.Phe1806Ile) | |
12 | g.51806869T>C | CA384885728 | SCN8A | c.5383T>C (p.Phe1795Leu) c.3447T>C c.5260T>C (p.Phe1754Leu) c.5416T>C (p.Phe1806Leu) | |
12 | g.51806869T>G | CA384885730 | SCN8A | c.5383T>G (p.Phe1795Val) c.3447T>G c.5260T>G (p.Phe1754Val) c.5416T>G (p.Phe1806Val) | |
12 | g.51806870T>A | CA384885736 | SCN8A | c.5384T>A (p.Phe1795Tyr) c.3448T>A c.5261T>A (p.Phe1754Tyr) c.5417T>A (p.Phe1806Tyr) | |
12 | g.51806870T>C | CA384885740 | SCN8A | c.5384T>C (p.Phe1795Ser) c.3448T>C c.5261T>C (p.Phe1754Ser) c.5417T>C (p.Phe1806Ser) | |
12 | g.51806870T>G | CA384885743 | SCN8A | c.5384T>G (p.Phe1795Cys) c.3448T>G c.5261T>G (p.Phe1754Cys) c.5417T>G (p.Phe1806Cys) | |
12 | g.51806871C>A | CA384885746 | SCN8A | c.5385C>A (p.Phe1795Leu) c.3449C>A c.5262C>A (p.Phe1754Leu) c.5418C>A (p.Phe1806Leu) | ClinVar dbSNP |
12 | g.51806871C= | CA2036193930 | SCN8A | c.5385C= (p.Phe1795=) c.3449C= c.5262C= (p.Phe1754=) c.5418C= (p.Phe1806=) | |
12 | g.51806871C>G | CA384885756 | SCN8A | c.5385C>G (p.Phe1795Leu) c.3449C>G c.5262C>G (p.Phe1754Leu) c.5418C>G (p.Phe1806Leu) | |
12 | g.51806871C>T | CA6571913 | SCN8A | c.5385C>T (p.Phe1795=) c.3449C>T c.5262C>T (p.Phe1754=) c.5418C>T (p.Phe1806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51806872G>A | CA384885774 | SCN8A | c.5386G>A (p.Asp1796Asn) c.3450G>A c.5263G>A (p.Asp1755Asn) c.5419G>A (p.Asp1807Asn) | ClinVar gnomAD v4 |
12 | g.51806872G>C | CA384885766 | SCN8A | c.5386G>C (p.Asp1796His) c.3450G>C c.5263G>C (p.Asp1755His) c.5419G>C (p.Asp1807His) | |
12 | g.51806872G>T | CA384885771 | SCN8A | c.5386G>T (p.Asp1796Tyr) c.3450G>T c.5263G>T (p.Asp1755Tyr) c.5419G>T (p.Asp1807Tyr) | |
12 | g.51806873A>C | CA384885778 | SCN8A | c.5387A>C (p.Asp1796Ala) c.3451A>C c.5264A>C (p.Asp1755Ala) c.5420A>C (p.Asp1807Ala) | |
12 | g.51806873A>G | CA384885788 | SCN8A | c.5387A>G (p.Asp1796Gly) c.3451A>G c.5264A>G (p.Asp1755Gly) c.5420A>G (p.Asp1807Gly) | |
12 | g.51806873A>T | CA384885787 | SCN8A | c.5387A>T (p.Asp1796Val) c.3451A>T c.5264A>T (p.Asp1755Val) c.5420A>T (p.Asp1807Val) | |
12 | g.51806874C>A | CA384885790 | SCN8A | c.5388C>A (p.Asp1796Glu) c.3452C>A c.5265C>A (p.Asp1755Glu) c.5421C>A (p.Asp1807Glu) | |
12 | g.51806874C>G | CA384885791 | SCN8A | c.5388C>G (p.Asp1796Glu) c.3452C>G c.5265C>G (p.Asp1755Glu) c.5421C>G (p.Asp1807Glu) | |
12 | g.51806874C>T | CA480062209 | SCN8A | c.5388C>T (p.Asp1796=) c.3452C>T c.5265C>T (p.Asp1755=) c.5421C>T (p.Asp1807=) | gnomAD v4 |
12 | g.51806875C>A | CA384885798 | SCN8A | c.5389C>A (p.Pro1797Thr) c.3453C>A c.5266C>A (p.Pro1756Thr) c.5422C>A (p.Pro1808Thr) | |
12 | g.51806875C= | CA2036193941 | SCN8A | c.5389C= (p.Pro1797=) c.3453C= c.5266C= (p.Pro1756=) c.5422C= (p.Pro1808=) | |
12 | g.51806875C>G | CA384885801 | SCN8A | c.5389C>G (p.Pro1797Ala) c.3453C>G c.5266C>G (p.Pro1756Ala) c.5422C>G (p.Pro1808Ala) | |
12 | g.51806875C>T | CA6571914 | SCN8A | c.5389C>T (p.Pro1797Ser) c.3453C>T c.5266C>T (p.Pro1756Ser) c.5422C>T (p.Pro1808Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806876C>A | CA384885809 | SCN8A | c.5390C>A (p.Pro1797His) c.3454C>A c.5267C>A (p.Pro1756His) c.5423C>A (p.Pro1808His) | |
12 | g.51806876C>G | CA384885811 | SCN8A | c.5390C>G (p.Pro1797Arg) c.3454C>G c.5267C>G (p.Pro1756Arg) c.5423C>G (p.Pro1808Arg) | |
12 | g.51806876C>T | CA384885813 | SCN8A | c.5390C>T (p.Pro1797Leu) c.3454C>T c.5267C>T (p.Pro1756Leu) c.5423C>T (p.Pro1808Leu) | |
12 | g.51806877C>A | CA480062219 | SCN8A | c.5391C>A (p.Pro1797=) c.3455C>A c.5268C>A (p.Pro1756=) c.5424C>A (p.Pro1808=) | |
12 | g.51806877C= | CA2036193944 | SCN8A | c.5391C= (p.Pro1797=) c.3455C= c.5268C= (p.Pro1756=) c.5424C= (p.Pro1808=) | |
12 | g.51806877C>G | CA480062217 | SCN8A | c.5391C>G (p.Pro1797=) c.3455C>G c.5268C>G (p.Pro1756=) c.5424C>G (p.Pro1808=) | |
12 | g.51806877C>T | CA6571915 | SCN8A | c.5391C>T (p.Pro1797=) c.3455C>T c.5268C>T (p.Pro1756=) c.5424C>T (p.Pro1808=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806878G>A | CA384885823 | SCN8A | c.5392G>A (p.Asp1798Asn) c.3456G>A c.5269G>A (p.Asp1757Asn) c.5425G>A (p.Asp1809Asn) | ClinVar dbSNP gnomAD v4 |
12 | g.51806878G>C | CA384885825 | SCN8A | c.5392G>C (p.Asp1798His) c.3456G>C c.5269G>C (p.Asp1757His) c.5425G>C (p.Asp1809His) | |
12 | g.51806878G>T | CA384885833 | SCN8A | c.5392G>T (p.Asp1798Tyr) c.3456G>T c.5269G>T (p.Asp1757Tyr) c.5425G>T (p.Asp1809Tyr) | |
12 | g.51806879A>C | CA384885840 | SCN8A | c.5393A>C (p.Asp1798Ala) c.3457A>C c.5270A>C (p.Asp1757Ala) c.5426A>C (p.Asp1809Ala) | |
12 | g.51806879A>G | CA384885839 | SCN8A | c.5393A>G (p.Asp1798Gly) c.3457A>G c.5270A>G (p.Asp1757Gly) c.5426A>G (p.Asp1809Gly) | |
12 | g.51806879A>T | CA384885836 | SCN8A | c.5393A>T (p.Asp1798Val) c.3457A>T c.5270A>T (p.Asp1757Val) c.5426A>T (p.Asp1809Val) | |
12 | g.51806880T>A | CA384885842 | SCN8A | c.5394T>A (p.Asp1798Glu) c.3458T>A c.5271T>A (p.Asp1757Glu) c.5427T>A (p.Asp1809Glu) | |
12 | g.51806880T>C | CA480062226 | SCN8A | c.5394T>C (p.Asp1798=) c.3458T>C c.5271T>C (p.Asp1757=) c.5427T>C (p.Asp1809=) | gnomAD v4 |
12 | g.51806880T>G | CA384885844 | SCN8A | c.5394T>G (p.Asp1798Glu) c.3458T>G c.5271T>G (p.Asp1757Glu) c.5427T>G (p.Asp1809Glu) | |
12 | g.51806881G>A | CA384885847 | SCN8A | c.5395G>A (p.Ala1799Thr) c.3459G>A c.5272G>A (p.Ala1758Thr) c.5428G>A (p.Ala1810Thr) | |
12 | g.51806881G>C | CA384885849 | SCN8A | c.5395G>C (p.Ala1799Pro) c.3459G>C c.5272G>C (p.Ala1758Pro) c.5428G>C (p.Ala1810Pro) | |
12 | g.51806881G>T | CA384885851 | SCN8A | c.5395G>T (p.Ala1799Ser) c.3459G>T c.5272G>T (p.Ala1758Ser) c.5428G>T (p.Ala1810Ser) | |
12 | g.51806882C>A | CA384885853 | SCN8A | c.5396C>A (p.Ala1799Asp) c.3460C>A c.5273C>A (p.Ala1758Asp) c.5429C>A (p.Ala1810Asp) |