Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806864A>C | CA384885674 | SCN8A | c.5378A>C (p.Glu1793Ala) c.3442A>C c.5255A>C (p.Glu1752Ala) c.5411A>C (p.Glu1804Ala) | |
12 | g.51806864A>G | CA384885670 | SCN8A | c.5378A>G (p.Glu1793Gly) c.3442A>G c.5255A>G (p.Glu1752Gly) c.5411A>G (p.Glu1804Gly) | |
12 | g.51806864A>T | CA384885672 | SCN8A | c.5378A>T (p.Glu1793Val) c.3442A>T c.5255A>T (p.Glu1752Val) c.5411A>T (p.Glu1804Val) | |
12 | g.51806865G>A | CA480062192 | SCN8A | c.5379G>A (p.Glu1793=) c.3443G>A c.5256G>A (p.Glu1752=) c.5412G>A (p.Glu1804=) | |
12 | g.51806865G>C | CA384885677 | SCN8A | c.5379G>C (p.Glu1793Asp) c.3443G>C c.5256G>C (p.Glu1752Asp) c.5412G>C (p.Glu1804Asp) | |
12 | g.51806865G>T | CA384885679 | SCN8A | c.5379G>T (p.Glu1793Asp) c.3443G>T c.5256G>T (p.Glu1752Asp) c.5412G>T (p.Glu1804Asp) | |
12 | g.51806866A= | CA2036193905 | SCN8A | c.5380A= (p.Lys1794=) c.3444A= c.5257A= (p.Lys1753=) c.5413A= (p.Lys1805=) | |
12 | g.51806866A>C | CA384885686 | SCN8A | c.5380A>C (p.Lys1794Gln) c.3444A>C c.5257A>C (p.Lys1753Gln) c.5413A>C (p.Lys1805Gln) | |
12 | g.51806866A>G | CA384885687 | SCN8A | c.5380A>G (p.Lys1794Glu) c.3444A>G c.5257A>G (p.Lys1753Glu) c.5413A>G (p.Lys1805Glu) | |
12 | g.51806866A>T | CA384885697 | SCN8A | c.5380A>T (p.Lys1794Ter) c.3444A>T c.5257A>T (p.Lys1753Ter) c.5413A>T (p.Lys1805Ter) | dbSNP |
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) |