Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806902T>A | CA384886001 | SCN8A | c.5416T>A (p.Cys1806Ser) c.3480T>A c.5293T>A (p.Cys1765Ser) c.5449T>A (p.Cys1817Ser) | |
12 | g.51806902T>C | CA384886002 | SCN8A | c.5416T>C (p.Cys1806Arg) c.3480T>C c.5293T>C (p.Cys1765Arg) c.5449T>C (p.Cys1817Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.51806902T>G | CA384886004 | SCN8A | c.5416T>G (p.Cys1806Gly) c.3480T>G c.5293T>G (p.Cys1765Gly) c.5449T>G (p.Cys1817Gly) | |
12 | g.51806902T= | CA2036193986 | SCN8A | c.5416T= (p.Cys1806=) c.3480T= c.5293T= (p.Cys1765=) c.5449T= (p.Cys1817=) | |
12 | g.51806903G>A | CA318296 | SCN8A | c.5417G>A (p.Cys1806Tyr) c.3481G>A c.5294G>A (p.Cys1765Tyr) c.5450G>A (p.Cys1817Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806903G>C | CA384886012 | SCN8A | c.5417G>C (p.Cys1806Ser) c.3481G>C c.5294G>C (p.Cys1765Ser) c.5450G>C (p.Cys1817Ser) | gnomAD v4 |
12 | g.51806903G= | CA2036193994 | SCN8A | c.5417G= (p.Cys1806=) c.3481G= c.5294G= (p.Cys1765=) c.5450G= (p.Cys1817=) | |
12 | g.51806903G>T | CA384886021 | SCN8A | c.5417G>T (p.Cys1806Phe) c.3481G>T c.5294G>T (p.Cys1765Phe) c.5450G>T (p.Cys1817Phe) | gnomAD v4 |
12 | g.51806904T>A | CA384886025 | SCN8A | c.5418T>A (p.Cys1806Ter) c.3482T>A c.5295T>A (p.Cys1765Ter) c.5451T>A (p.Cys1817Ter) | dbSNP |
12 | g.51806904T>C | CA480062290 | SCN8A | c.5418T>C (p.Cys1806=) c.3482T>C c.5295T>C (p.Cys1765=) c.5451T>C (p.Cys1817=) | |
12 | g.51806904T>G | CA384886027 | SCN8A | c.5418T>G (p.Cys1806Trp) c.3482T>G c.5295T>G (p.Cys1765Trp) c.5451T>G (p.Cys1817Trp) | |
12 | g.51806904T= | CA2036194001 | SCN8A | c.5418T= (p.Cys1806=) c.3482T= c.5295T= (p.Cys1765=) c.5451T= (p.Cys1817=) | |
12 | g.51806905A= | CA2036194007 | SCN8A | c.5419A= (p.Lys1807=) c.3483A= c.5296A= (p.Lys1766=) c.5452A= (p.Lys1818=) | |
12 | g.51806905A>C | CA384886032 | SCN8A | c.5419A>C (p.Lys1807Gln) c.3483A>C c.5296A>C (p.Lys1766Gln) c.5452A>C (p.Lys1818Gln) | |
12 | g.51806905A>G | CA384886036 | SCN8A | c.5419A>G (p.Lys1807Glu) c.3483A>G c.5296A>G (p.Lys1766Glu) c.5452A>G (p.Lys1818Glu) | |
12 | g.51806905A>T | CA384886034 | SCN8A | c.5419A>T (p.Lys1807Ter) c.3483A>T c.5296A>T (p.Lys1766Ter) c.5452A>T (p.Lys1818Ter) | dbSNP |
12 | g.51806906A= | CA2036194014 | SCN8A | c.5420A= (p.Lys1807=) c.3484A= c.5297A= (p.Lys1766=) c.5453A= (p.Lys1818=) | |
12 | g.51806906A>C | CA384886041 | SCN8A | c.5420A>C (p.Lys1807Thr) c.3484A>C c.5297A>C (p.Lys1766Thr) c.5453A>C (p.Lys1818Thr) | |
12 | g.51806906A>G | CA384886044 | SCN8A | c.5420A>G (p.Lys1807Arg) c.3484A>G c.5297A>G (p.Lys1766Arg) c.5453A>G (p.Lys1818Arg) | dbSNP gnomAD v4 |
12 | g.51806906A>T | CA384886047 | SCN8A | c.5420A>T (p.Lys1807Met) c.3484A>T c.5297A>T (p.Lys1766Met) c.5453A>T (p.Lys1818Met) | |
12 | g.51806907G>A | CA480062296 | SCN8A | c.5421G>A (p.Lys1807=) c.3485G>A c.5298G>A (p.Lys1766=) c.5454G>A (p.Lys1818=) | ClinVar dbSNP gnomAD v4 |
12 | g.51806907G>C | CA384886051 | SCN8A | c.5421G>C (p.Lys1807Asn) c.3485G>C c.5298G>C (p.Lys1766Asn) c.5454G>C (p.Lys1818Asn) | |
12 | g.51806907G= | CA2036194018 | SCN8A | c.5421G= (p.Lys1807=) c.3485G= c.5298G= (p.Lys1766=) c.5454G= (p.Lys1818=) | |
12 | g.51806907G>T | CA384886063 | SCN8A | c.5421G>T (p.Lys1807Asn) c.3485G>T c.5298G>T (p.Lys1766Asn) c.5454G>T (p.Lys1818Asn) | |
12 | g.51806908C>A | CA384886068 | SCN8A | c.5422C>A (p.Leu1808Met) c.3486C>A c.5299C>A (p.Leu1767Met) c.5455C>A (p.Leu1819Met) | |
12 | g.51806908C>G | CA384886070 | SCN8A | c.5422C>G (p.Leu1808Val) c.3486C>G c.5299C>G (p.Leu1767Val) c.5455C>G (p.Leu1819Val) | |
12 | g.51806908C>T | CA480062300 | SCN8A | c.5422C>T (p.Leu1808=) c.3486C>T c.5299C>T (p.Leu1767=) c.5455C>T (p.Leu1819=) | gnomAD v4 |
12 | g.51806909T>A | CA384886075 | SCN8A | c.5423T>A (p.Leu1808Gln) c.3487T>A c.5300T>A (p.Leu1767Gln) c.5456T>A (p.Leu1819Gln) | |
12 | g.51806909T>C | CA384886076 | SCN8A | c.5423T>C (p.Leu1808Pro) c.3487T>C c.5300T>C (p.Leu1767Pro) c.5456T>C (p.Leu1819Pro) | |
12 | g.51806909T>G | CA384886077 | SCN8A | c.5423T>G (p.Leu1808Arg) c.3487T>G c.5300T>G (p.Leu1767Arg) c.5456T>G (p.Leu1819Arg) | |
12 | g.51806910G>A | CA480062303 | SCN8A | c.5424G>A (p.Leu1808=) c.3488G>A c.5301G>A (p.Leu1767=) c.5457G>A (p.Leu1819=) | gnomAD v4 |
12 | g.51806910G>C | CA480062305 | SCN8A | c.5424G>C (p.Leu1808=) c.3488G>C c.5301G>C (p.Leu1767=) c.5457G>C (p.Leu1819=) | |
12 | g.51806910G>T | CA480062307 | SCN8A | c.5424G>T (p.Leu1808=) c.3488G>T c.5301G>T (p.Leu1767=) c.5457G>T (p.Leu1819=) | |
12 | g.51806911G>A | CA384886081 | SCN8A | c.5425G>A (p.Ala1809Thr) c.3489G>A c.5302G>A (p.Ala1768Thr) c.5458G>A (p.Ala1820Thr) | |
12 | g.51806911G>C | CA384886079 | SCN8A | c.5425G>C (p.Ala1809Pro) c.3489G>C c.5302G>C (p.Ala1768Pro) c.5458G>C (p.Ala1820Pro) | dbSNP |
12 | g.51806911G= | CA2036194022 | SCN8A | c.5425G= (p.Ala1809=) c.3489G= c.5302G= (p.Ala1768=) c.5458G= (p.Ala1820=) | |
12 | g.51806911G>T | CA384886078 | SCN8A | c.5425G>T (p.Ala1809Ser) c.3489G>T c.5302G>T (p.Ala1768Ser) c.5458G>T (p.Ala1820Ser) | |
12 | g.51806912C>A | CA384886084 | SCN8A | c.5426C>A (p.Ala1809Glu) c.3490C>A c.5303C>A (p.Ala1768Glu) c.5459C>A (p.Ala1820Glu) | gnomAD v4 |
12 | g.51806912C>G | CA384886086 | SCN8A | c.5426C>G (p.Ala1809Gly) c.3490C>G c.5303C>G (p.Ala1768Gly) c.5459C>G (p.Ala1820Gly) | |
12 | g.51806912C>T | CA384886089 | SCN8A | c.5426C>T (p.Ala1809Val) c.3490C>T c.5303C>T (p.Ala1768Val) c.5459C>T (p.Ala1820Val) | |
12 | g.51806913A>C | CA480062312 | SCN8A | c.5427A>C (p.Ala1809=) c.3491A>C c.5304A>C (p.Ala1768=) c.5460A>C (p.Ala1820=) | |
12 | g.51806913A>G | CA480062313 | SCN8A | c.5427A>G (p.Ala1809=) c.3491A>G c.5304A>G (p.Ala1768=) c.5460A>G (p.Ala1820=) | |
12 | g.51806913A>T | CA480062315 | SCN8A | c.5427A>T (p.Ala1809=) c.3491A>T c.5304A>T (p.Ala1768=) c.5460A>T (p.Ala1820=) | |
12 | g.51806914G>A | CA384886092 | SCN8A | c.5428G>A (p.Asp1810Asn) c.3492G>A c.5305G>A (p.Asp1769Asn) c.5461G>A (p.Asp1821Asn) | |
12 | g.51806914G>C | CA384886095 | SCN8A | c.5428G>C (p.Asp1810His) c.3492G>C c.5305G>C (p.Asp1769His) c.5461G>C (p.Asp1821His) | ClinVar |
12 | g.51806914G>T | CA384886097 | SCN8A | c.5428G>T (p.Asp1810Tyr) c.3492G>T c.5305G>T (p.Asp1769Tyr) c.5461G>T (p.Asp1821Tyr) | |
12 | g.51806915A>C | CA384886105 | SCN8A | c.5429A>C (p.Asp1810Ala) c.3493A>C c.5306A>C (p.Asp1769Ala) c.5462A>C (p.Asp1821Ala) | |
12 | g.51806915A>G | CA384886101 | SCN8A | c.5429A>G (p.Asp1810Gly) c.3493A>G c.5306A>G (p.Asp1769Gly) c.5462A>G (p.Asp1821Gly) | |
12 | g.51806915A>T | CA384886104 | SCN8A | c.5429A>T (p.Asp1810Val) c.3493A>T c.5306A>T (p.Asp1769Val) c.5462A>T (p.Asp1821Val) | |
12 | g.51806916C>A | CA384886109 | SCN8A | c.5430C>A (p.Asp1810Glu) c.3494C>A c.5307C>A (p.Asp1769Glu) c.5463C>A (p.Asp1821Glu) | ClinVar dbSNP gnomAD v4 |
12 | g.51806916C= | CA2036194025 | SCN8A | c.5430C= (p.Asp1810=) c.3494C= c.5307C= (p.Asp1769=) c.5463C= (p.Asp1821=) | |
12 | g.51806916C>G | CA384886111 | SCN8A | c.5430C>G (p.Asp1810Glu) c.3494C>G c.5307C>G (p.Asp1769Glu) c.5463C>G (p.Asp1821Glu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806916C>T | CA480062323 | SCN8A | c.5430C>T (p.Asp1810=) c.3494C>T c.5307C>T (p.Asp1769=) c.5463C>T (p.Asp1821=) | |
12 | g.51806917T>A | CA384886116 | SCN8A | c.5431T>A (p.Phe1811Ile) c.3495T>A c.5308T>A (p.Phe1770Ile) c.5464T>A (p.Phe1822Ile) | |
12 | g.51806917T>C | CA384886118 | SCN8A | c.5431T>C (p.Phe1811Leu) c.3495T>C c.5308T>C (p.Phe1770Leu) c.5464T>C (p.Phe1822Leu) | |
12 | g.51806917T>G | CA384886121 | SCN8A | c.5431T>G (p.Phe1811Val) c.3495T>G c.5308T>G (p.Phe1770Val) c.5464T>G (p.Phe1822Val) | |
12 | g.51806918T>A | CA384886122 | SCN8A | c.5432T>A (p.Phe1811Tyr) c.3496T>A c.5309T>A (p.Phe1770Tyr) c.5465T>A (p.Phe1822Tyr) | |
12 | g.51806918T>C | CA384886124 | SCN8A | c.5432T>C (p.Phe1811Ser) c.3496T>C c.5309T>C (p.Phe1770Ser) c.5465T>C (p.Phe1822Ser) | |
12 | g.51806918T>G | CA384886123 | SCN8A | c.5432T>G (p.Phe1811Cys) c.3496T>G c.5309T>G (p.Phe1770Cys) c.5465T>G (p.Phe1822Cys) | |
12 | g.51806919T>A | CA384886125 | SCN8A | c.5433T>A (p.Phe1811Leu) c.3497T>A c.5310T>A (p.Phe1770Leu) c.5466T>A (p.Phe1822Leu) | |
12 | g.51806919T>C | CA480062328 | SCN8A | c.5433T>C (p.Phe1811=) c.3497T>C c.5310T>C (p.Phe1770=) c.5466T>C (p.Phe1822=) | |
12 | g.51806919T>G | CA384886126 | SCN8A | c.5433T>G (p.Phe1811Leu) c.3497T>G c.5310T>G (p.Phe1770Leu) c.5466T>G (p.Phe1822Leu) | |
12 | g.51806920G>A | CA384886127 | SCN8A | c.5434G>A (p.Ala1812Thr) c.3498G>A c.5311G>A (p.Ala1771Thr) c.5467G>A (p.Ala1823Thr) | |
12 | g.51806920G>C | CA384886128 | SCN8A | c.5434G>C (p.Ala1812Pro) c.3498G>C c.5311G>C (p.Ala1771Pro) c.5467G>C (p.Ala1823Pro) | |
12 | g.51806920G>T | CA384886130 | SCN8A | c.5434G>T (p.Ala1812Ser) c.3498G>T c.5311G>T (p.Ala1771Ser) c.5467G>T (p.Ala1823Ser) | |
12 | g.51806921C>A | CA384886131 | SCN8A | c.5435C>A (p.Ala1812Glu) c.3499C>A c.5312C>A (p.Ala1771Glu) c.5468C>A (p.Ala1823Glu) | |
12 | g.51806921C>G | CA384886133 | SCN8A | c.5435C>G (p.Ala1812Gly) c.3499C>G c.5312C>G (p.Ala1771Gly) c.5468C>G (p.Ala1823Gly) | |
12 | g.51806921C>T | CA384886135 | SCN8A | c.5435C>T (p.Ala1812Val) c.3499C>T c.5312C>T (p.Ala1771Val) c.5468C>T (p.Ala1823Val) | |
12 | g.51806922A>C | CA480062330 | SCN8A | c.5436A>C (p.Ala1812=) c.3500A>C c.5313A>C (p.Ala1771=) c.5469A>C (p.Ala1823=) | |
12 | g.51806922A>G | CA480062331 | SCN8A | c.5436A>G (p.Ala1812=) c.3500A>G c.5313A>G (p.Ala1771=) c.5469A>G (p.Ala1823=) | gnomAD v4 |
12 | g.51806922A>T | CA480062333 | SCN8A | c.5436A>T (p.Ala1812=) c.3500A>T c.5313A>T (p.Ala1771=) c.5469A>T (p.Ala1823=) | |
12 | g.51806923G>A | CA384886140 | SCN8A | c.5437G>A (p.Asp1813Asn) c.3501G>A c.5314G>A (p.Asp1772Asn) c.5470G>A (p.Asp1824Asn) | COSMIC COSMIC |
12 | g.51806923G>C | CA384886142 | SCN8A | c.5437G>C (p.Asp1813His) c.3501G>C c.5314G>C (p.Asp1772His) c.5470G>C (p.Asp1824His) | |
12 | g.51806923G>T | CA384886150 | SCN8A | c.5437G>T (p.Asp1813Tyr) c.3501G>T c.5314G>T (p.Asp1772Tyr) c.5470G>T (p.Asp1824Tyr) | |
12 | g.51806924A>C | CA384886154 | SCN8A | c.5438A>C (p.Asp1813Ala) c.3502A>C c.5315A>C (p.Asp1772Ala) c.5471A>C (p.Asp1824Ala) | |
12 | g.51806924A>G | CA384886159 | SCN8A | c.5438A>G (p.Asp1813Gly) c.3502A>G c.5315A>G (p.Asp1772Gly) c.5471A>G (p.Asp1824Gly) | |
12 | g.51806924A>T | CA384886156 | SCN8A | c.5438A>T (p.Asp1813Val) c.3502A>T c.5315A>T (p.Asp1772Val) c.5471A>T (p.Asp1824Val) | |
12 | g.51806925T>A | CA384886160 | SCN8A | c.5439T>A (p.Asp1813Glu) c.3503T>A c.5316T>A (p.Asp1772Glu) c.5472T>A (p.Asp1824Glu) | |
12 | g.51806925T>C | CA480062341 | SCN8A | c.5439T>C (p.Asp1813=) c.3503T>C c.5316T>C (p.Asp1772=) c.5472T>C (p.Asp1824=) | |
12 | g.51806925T>G | CA384886161 | SCN8A | c.5439T>G (p.Asp1813Glu) c.3503T>G c.5316T>G (p.Asp1772Glu) c.5472T>G (p.Asp1824Glu) | |
12 | g.51806926G>A | CA384886166 | SCN8A | c.5440G>A (p.Ala1814Thr) c.3504G>A c.5317G>A (p.Ala1773Thr) c.5473G>A (p.Ala1825Thr) | |
12 | g.51806926G>C | CA384886168 | SCN8A | c.5440G>C (p.Ala1814Pro) c.3504G>C c.5317G>C (p.Ala1773Pro) c.5473G>C (p.Ala1825Pro) | |
12 | g.51806926G>T | CA384886184 | SCN8A | c.5440G>T (p.Ala1814Ser) c.3504G>T c.5317G>T (p.Ala1773Ser) c.5473G>T (p.Ala1825Ser) | |
12 | g.51806927C>A | CA384886185 | SCN8A | c.5441C>A (p.Ala1814Asp) c.3505C>A c.5318C>A (p.Ala1773Asp) c.5474C>A (p.Ala1825Asp) | |
12 | g.51806927C= | CA2036194028 | SCN8A | c.5441C= (p.Ala1814=) c.3505C= c.5318C= (p.Ala1773=) c.5474C= (p.Ala1825=) | |
12 | g.51806927C>G | CA384886187 | SCN8A | c.5441C>G (p.Ala1814Gly) c.3505C>G c.5318C>G (p.Ala1773Gly) c.5474C>G (p.Ala1825Gly) | ClinVar dbSNP |
12 | g.51806927C>T | CA384886189 | SCN8A | c.5441C>T (p.Ala1814Val) c.3505C>T c.5318C>T (p.Ala1773Val) c.5474C>T (p.Ala1825Val) | |
12 | g.51806928C>A | CA480062348 | SCN8A | c.5442C>A (p.Ala1814=) c.3506C>A c.5319C>A (p.Ala1773=) c.5475C>A (p.Ala1825=) | |
12 | g.51806928C>G | CA480062349 | SCN8A | c.5442C>G (p.Ala1814=) c.3506C>G c.5319C>G (p.Ala1773=) c.5475C>G (p.Ala1825=) | |
12 | g.51806928C>T | CA480062350 | SCN8A | c.5442C>T (p.Ala1814=) c.3506C>T c.5319C>T (p.Ala1773=) c.5475C>T (p.Ala1825=) | |
12 | g.51806929T>A | CA384886192 | SCN8A | c.5443T>A (p.Leu1815Met) c.3507T>A c.5320T>A (p.Leu1774Met) c.5476T>A (p.Leu1826Met) | |
12 | g.51806929T>C | CA480062351 | SCN8A | c.5443T>C (p.Leu1815=) c.3507T>C c.5320T>C (p.Leu1774=) c.5476T>C (p.Leu1826=) | |
12 | g.51806929T>G | CA384886195 | SCN8A | c.5443T>G (p.Leu1815Val) c.3507T>G c.5320T>G (p.Leu1774Val) c.5476T>G (p.Leu1826Val) | |
12 | g.51806930T>A | CA384886197 | SCN8A | c.5444T>A (p.Leu1815Ter) c.3508T>A c.5321T>A (p.Leu1774Ter) c.5477T>A (p.Leu1826Ter) | dbSNP |
12 | g.51806930T>C | CA384886201 | SCN8A | c.5444T>C (p.Leu1815Ser) c.3508T>C c.5321T>C (p.Leu1774Ser) c.5477T>C (p.Leu1826Ser) | |
12 | g.51806930T>G | CA384886210 | SCN8A | c.5444T>G (p.Leu1815Trp) c.3508T>G c.5321T>G (p.Leu1774Trp) c.5477T>G (p.Leu1826Trp) | |
12 | g.51806930T= | CA2036194031 | SCN8A | c.5444T= (p.Leu1815=) c.3508T= c.5321T= (p.Leu1774=) c.5477T= (p.Leu1826=) | |
12 | g.51806931G>A | CA480062354 | SCN8A | c.5445G>A (p.Leu1815=) c.3509G>A c.5322G>A (p.Leu1774=) c.5478G>A (p.Leu1826=) | ClinVar dbSNP gnomAD v4 |
12 | g.51806931G>C | CA384886214 | SCN8A | c.5445G>C (p.Leu1815Phe) c.3509G>C c.5322G>C (p.Leu1774Phe) c.5478G>C (p.Leu1826Phe) | |
12 | g.51806931G>T | CA384886224 | SCN8A | c.5445G>T (p.Leu1815Phe) c.3509G>T c.5322G>T (p.Leu1774Phe) c.5478G>T (p.Leu1826Phe) | |
12 | g.51806932G>A | CA384886234 | SCN8A | c.5446G>A (p.Glu1816Lys) c.3510G>A c.5323G>A (p.Glu1775Lys) c.5479G>A (p.Glu1827Lys) | |
12 | g.51806932G>C | CA384886229 | SCN8A | c.5446G>C (p.Glu1816Gln) c.3510G>C c.5323G>C (p.Glu1775Gln) c.5479G>C (p.Glu1827Gln) | |
12 | g.51806932G= | CA2036194033 | SCN8A | c.5446G= (p.Glu1816=) c.3510G= c.5323G= (p.Glu1775=) c.5479G= (p.Glu1827=) | |
12 | g.51806932G>T | CA384886232 | SCN8A | c.5446G>T (p.Glu1816Ter) c.3510G>T c.5323G>T (p.Glu1775Ter) c.5479G>T (p.Glu1827Ter) | dbSNP |
12 | g.51806933A>C | CA384886235 | SCN8A | c.5447A>C (p.Glu1816Ala) c.3511A>C c.5324A>C (p.Glu1775Ala) c.5480A>C (p.Glu1827Ala) | |
12 | g.51806933A>G | CA384886239 | SCN8A | c.5447A>G (p.Glu1816Gly) c.3511A>G c.5324A>G (p.Glu1775Gly) c.5480A>G (p.Glu1827Gly) | |
12 | g.51806933A>T | CA384886242 | SCN8A | c.5447A>T (p.Glu1816Val) c.3511A>T c.5324A>T (p.Glu1775Val) c.5480A>T (p.Glu1827Val) | |
12 | g.51806934G>A | CA480062361 | SCN8A | c.5448G>A (p.Glu1816=) c.3512G>A c.5325G>A (p.Glu1775=) c.5481G>A (p.Glu1827=) | gnomAD v4 |
12 | g.51806934G>C | CA384886253 | SCN8A | c.5448G>C (p.Glu1816Asp) c.3512G>C c.5325G>C (p.Glu1775Asp) c.5481G>C (p.Glu1827Asp) | |
12 | g.51806934G>T | CA384886256 | SCN8A | c.5448G>T (p.Glu1816Asp) c.3512G>T c.5325G>T (p.Glu1775Asp) c.5481G>T (p.Glu1827Asp) | |
12 | g.51806935C>A | CA384886265 | SCN8A | c.5449C>A (p.His1817Asn) c.3513C>A c.5326C>A (p.His1776Asn) c.5482C>A (p.His1828Asn) | |
12 | g.51806935C>G | CA384886269 | SCN8A | c.5449C>G (p.His1817Asp) c.3513C>G c.5326C>G (p.His1776Asp) c.5482C>G (p.His1828Asp) | |
12 | g.51806935C>T | CA384886279 | SCN8A | c.5449C>T (p.His1817Tyr) c.3513C>T c.5326C>T (p.His1776Tyr) c.5482C>T (p.His1828Tyr) | |
12 | g.51806936A>C | CA384886282 | SCN8A | c.5450A>C (p.His1817Pro) c.3514A>C c.5327A>C (p.His1776Pro) c.5483A>C (p.His1828Pro) | |
12 | g.51806936A>G | CA384886283 | SCN8A | c.5450A>G (p.His1817Arg) c.3514A>G c.5327A>G (p.His1776Arg) c.5483A>G (p.His1828Arg) | |
12 | g.51806936A>T | CA384886284 | SCN8A | c.5450A>T (p.His1817Leu) c.3514A>T c.5327A>T (p.His1776Leu) c.5483A>T (p.His1828Leu) | |
12 | g.51806937T>A | CA384886287 | SCN8A | c.5451T>A (p.His1817Gln) c.3515T>A c.5328T>A (p.His1776Gln) c.5484T>A (p.His1828Gln) | |
12 | g.51806937T>C | CA480062371 | SCN8A | c.5451T>C (p.His1817=) c.3515T>C c.5328T>C (p.His1776=) c.5484T>C (p.His1828=) | |
12 | g.51806937T>G | CA384886289 | SCN8A | c.5451T>G (p.His1817Gln) c.3515T>G c.5328T>G (p.His1776Gln) c.5484T>G (p.His1828Gln) | |
12 | g.51806938C>A | CA384886309 | SCN8A | c.5452C>A (p.Pro1818Thr) c.3516C>A c.5329C>A (p.Pro1777Thr) c.5485C>A (p.Pro1829Thr) | |
12 | g.51806938C>G | CA384886301 | SCN8A | c.5452C>G (p.Pro1818Ala) c.3516C>G c.5329C>G (p.Pro1777Ala) c.5485C>G (p.Pro1829Ala) | |
12 | g.51806938C>T | CA384886307 | SCN8A | c.5452C>T (p.Pro1818Ser) c.3516C>T c.5329C>T (p.Pro1777Ser) c.5485C>T (p.Pro1829Ser) | |
12 | g.51806939C>A | CA384886317 | SCN8A | c.5453C>A (p.Pro1818His) c.3517C>A c.5330C>A (p.Pro1777His) c.5486C>A (p.Pro1829His) | |
12 | g.51806939C= | CA2036194039 | SCN8A | c.5453C= (p.Pro1818=) c.3517C= c.5330C= (p.Pro1777=) c.5486C= (p.Pro1829=) | |
12 | g.51806939C>G | CA384886319 | SCN8A | c.5453C>G (p.Pro1818Arg) c.3517C>G c.5330C>G (p.Pro1777Arg) c.5486C>G (p.Pro1829Arg) | |
12 | g.51806939C>T | CA384886324 | SCN8A | c.5453C>T (p.Pro1818Leu) c.3517C>T c.5330C>T (p.Pro1777Leu) c.5486C>T (p.Pro1829Leu) | dbSNP gnomAD v2 |
12 | g.51806940T>A | CA480062383 | SCN8A | c.5454T>A (p.Pro1818=) c.3518T>A c.5331T>A (p.Pro1777=) c.5487T>A (p.Pro1829=) | |
12 | g.51806940T>C | CA480062381 | SCN8A | c.5454T>C (p.Pro1818=) c.3518T>C c.5331T>C (p.Pro1777=) c.5487T>C (p.Pro1829=) | |
12 | g.51806940T>G | CA480062379 | SCN8A | c.5454T>G (p.Pro1818=) c.3518T>G c.5331T>G (p.Pro1777=) c.5487T>G (p.Pro1829=) | |
12 | g.51806941C>A | CA384886333 | SCN8A | c.5455C>A (p.Leu1819Ile) c.3519C>A c.5332C>A (p.Leu1778Ile) c.5488C>A (p.Leu1830Ile) | |
12 | g.51806941C>G | CA384886343 | SCN8A | c.5455C>G (p.Leu1819Val) c.3519C>G c.5332C>G (p.Leu1778Val) c.5488C>G (p.Leu1830Val) | |
12 | g.51806941C>T | CA384886347 | SCN8A | c.5455C>T (p.Leu1819Phe) c.3519C>T c.5332C>T (p.Leu1778Phe) c.5488C>T (p.Leu1830Phe) | |
12 | g.51806942T>A | CA384886364 | SCN8A | c.5456T>A (p.Leu1819His) c.3520T>A c.5333T>A (p.Leu1778His) c.5489T>A (p.Leu1830His) | |
12 | g.51806942T>C | CA384886362 | SCN8A | c.5456T>C (p.Leu1819Pro) c.3520T>C c.5333T>C (p.Leu1778Pro) c.5489T>C (p.Leu1830Pro) | |
12 | g.51806942T>G | CA384886358 | SCN8A | c.5456T>G (p.Leu1819Arg) c.3520T>G c.5333T>G (p.Leu1778Arg) c.5489T>G (p.Leu1830Arg) | |
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.51806947_51806948insAGGA | CA2838315754 | SCN8A | c.5461_5462insAGGA (p.Val1821GlufsTer9) c.3525_3526insAGGA c.5338_5339insAGGA (p.Val1780GlufsTer9) c.5494_5495insAGGA (p.Val1832GlufsTer9) | |
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) | |
12 | g.51806957C>T | CA384886574 | SCN8A | c.5471C>T (p.Pro1824Leu) c.3535C>T c.5348C>T (p.Pro1783Leu) c.5504C>T (p.Pro1835Leu) | |
12 | g.51806958C>A | CA155097 | SCN8A | c.5472C>A (p.Pro1824=) c.3536C>A c.5349C>A (p.Pro1783=) c.5505C>A (p.Pro1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806958C= | CA2036194122 | SCN8A | c.5472C= (p.Pro1824=) c.3536C= c.5349C= (p.Pro1783=) c.5505C= (p.Pro1835=) | |
12 | g.51806958C>G | CA6571920 | SCN8A | c.5472C>G (p.Pro1824=) c.3536C>G c.5349C>G (p.Pro1783=) c.5505C>G (p.Pro1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806958C>T | CA236327655 | SCN8A | c.5472C>T (p.Pro1824=) c.3536C>T c.5349C>T (p.Pro1783=) c.5505C>T (p.Pro1835=) | dbSNP |
12 | g.51806958_51806959insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA | CA947652706 | SCN8A | c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1824_Asn1825insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) c.3536_3537insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1783_Asn1784insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) c.5505_5506insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1835_Asn1836insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) | gnomAD v3 gnomAD v4 |
12 | g.51806959A>C | CA384886591 | SCN8A | c.5473A>C (p.Asn1825His) c.3537A>C c.5350A>C (p.Asn1784His) c.5506A>C (p.Asn1836His) | |
12 | g.51806959A>G | CA384886593 | SCN8A | c.5473A>G (p.Asn1825Asp) c.3537A>G c.5350A>G (p.Asn1784Asp) c.5506A>G (p.Asn1836Asp) | |
12 | g.51806959A>T | CA384886604 | SCN8A | c.5473A>T (p.Asn1825Tyr) c.3537A>T c.5350A>T (p.Asn1784Tyr) c.5506A>T (p.Asn1836Tyr) | |
12 | g.51806960A= | CA2036194144 | SCN8A | c.5474A= (p.Asn1825=) c.3538A= c.5351A= (p.Asn1784=) c.5507A= (p.Asn1836=) | |
12 | g.51806960A>C | CA384886610 | SCN8A | c.5474A>C (p.Asn1825Thr) c.3538A>C c.5351A>C (p.Asn1784Thr) c.5507A>C (p.Asn1836Thr) | |
12 | g.51806960A>G | CA384886613 | SCN8A | c.5474A>G (p.Asn1825Ser) c.3538A>G c.5351A>G (p.Asn1784Ser) c.5507A>G (p.Asn1836Ser) | dbSNP gnomAD v4 |
12 | g.51806960A>T | CA384886612 | SCN8A | c.5474A>T (p.Asn1825Ile) c.3538A>T c.5351A>T (p.Asn1784Ile) c.5507A>T (p.Asn1836Ile) | |
12 | g.51806961T>A | CA384886617 | SCN8A | c.5475T>A (p.Asn1825Lys) c.3539T>A c.5352T>A (p.Asn1784Lys) c.5508T>A (p.Asn1836Lys) | dbSNP |
12 | g.51806961T>C | CA6571921 | SCN8A | c.5475T>C (p.Asn1825=) c.3539T>C c.5352T>C (p.Asn1784=) c.5508T>C (p.Asn1836=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806961T>G | CA384886618 | SCN8A | c.5475T>G (p.Asn1825Lys) c.3539T>G c.5352T>G (p.Asn1784Lys) c.5508T>G (p.Asn1836Lys) | |
12 | g.51806961T= | CA2036194153 | SCN8A | c.5475T= (p.Asn1825=) c.3539T= c.5352T= (p.Asn1784=) c.5508T= (p.Asn1836=) | |
12 | g.51806962A>C | CA384886623 | SCN8A | c.5476A>C (p.Thr1826Pro) c.3540A>C c.5353A>C (p.Thr1785Pro) c.5509A>C (p.Thr1837Pro) | |
12 | g.51806962A>G | CA384886628 | SCN8A | c.5476A>G (p.Thr1826Ala) c.3540A>G c.5353A>G (p.Thr1785Ala) c.5509A>G (p.Thr1837Ala) | gnomAD v4 |
12 | g.51806962A>T | CA384886635 | SCN8A | c.5476A>T (p.Thr1826Ser) c.3540A>T c.5353A>T (p.Thr1785Ser) c.5509A>T (p.Thr1837Ser) | |
12 | g.51806963C>A | CA384886636 | SCN8A | c.5477C>A (p.Thr1826Asn) c.3541C>A c.5354C>A (p.Thr1785Asn) c.5510C>A (p.Thr1837Asn) | |
12 | g.51806963C>G | CA384886637 | SCN8A | c.5477C>G (p.Thr1826Ser) c.3541C>G c.5354C>G (p.Thr1785Ser) c.5510C>G (p.Thr1837Ser) | gnomAD v4 |
12 | g.51806963C>T | CA384886638 | SCN8A | c.5477C>T (p.Thr1826Ile) c.3541C>T c.5354C>T (p.Thr1785Ile) c.5510C>T (p.Thr1837Ile) | |
12 | g.51806964C>A | CA480061857 | SCN8A | c.5478C>A (p.Thr1826=) c.3542C>A c.5355C>A (p.Thr1785=) c.5511C>A (p.Thr1837=) | |
12 | g.51806964C>G | CA480061858 | SCN8A | c.5478C>G (p.Thr1826=) c.3542C>G c.5355C>G (p.Thr1785=) c.5511C>G (p.Thr1837=) | |
12 | g.51806964C>T | CA480061859 | SCN8A | c.5478C>T (p.Thr1826=) c.3542C>T c.5355C>T (p.Thr1785=) c.5511C>T (p.Thr1837=) | gnomAD v4 |
12 | g.51806965A= | CA2036194160 | SCN8A | c.5479A= (p.Ile1827=) c.3543A= c.5356A= (p.Ile1786=) c.5512A= (p.Ile1838=) | |
12 | g.51806965A>C | CA384886640 | SCN8A | c.5479A>C (p.Ile1827Leu) c.3543A>C c.5356A>C (p.Ile1786Leu) c.5512A>C (p.Ile1838Leu) | |
12 | g.51806965A>G | CA6571922 | SCN8A | c.5479A>G (p.Ile1827Val) c.3543A>G c.5356A>G (p.Ile1786Val) c.5512A>G (p.Ile1838Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806965A>T | CA384886643 | SCN8A | c.5479A>T (p.Ile1827Phe) c.3543A>T c.5356A>T (p.Ile1786Phe) c.5512A>T (p.Ile1838Phe) | |
12 | g.51806966T>A | CA384886650 | SCN8A | c.5480T>A (p.Ile1827Asn) c.3544T>A c.5357T>A (p.Ile1786Asn) c.5513T>A (p.Ile1838Asn) | |
12 | g.51806966T>C | CA384886661 | SCN8A | c.5480T>C (p.Ile1827Thr) c.3544T>C c.5357T>C (p.Ile1786Thr) c.5513T>C (p.Ile1838Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.51806966T>G | CA384886658 | SCN8A | c.5480T>G (p.Ile1827Ser) c.3544T>G c.5357T>G (p.Ile1786Ser) c.5513T>G (p.Ile1838Ser) | |
12 | g.51806966T= | CA2036194171 | SCN8A | c.5480T= (p.Ile1827=) c.3544T= c.5357T= (p.Ile1786=) c.5513T= (p.Ile1838=) | |
12 | g.51806967T>A | CA480061862 | SCN8A | c.5481T>A (p.Ile1827=) c.3545T>A c.5358T>A (p.Ile1786=) c.5514T>A (p.Ile1838=) | |
12 | g.51806967T>C | CA480061864 | SCN8A | c.5481T>C (p.Ile1827=) c.3545T>C c.5358T>C (p.Ile1786=) c.5514T>C (p.Ile1838=) | |
12 | g.51806967T>G | CA384886662 | SCN8A | c.5481T>G (p.Ile1827Met) c.3545T>G c.5358T>G (p.Ile1786Met) c.5514T>G (p.Ile1838Met) | |
12 | g.51806968G>A | CA384886665 | SCN8A | c.5482G>A (p.Glu1828Lys) c.3546G>A c.5359G>A (p.Glu1787Lys) c.5515G>A (p.Glu1839Lys) | |
12 | g.51806968G>C | CA384886669 | SCN8A | c.5482G>C (p.Glu1828Gln) c.3546G>C c.5359G>C (p.Glu1787Gln) c.5515G>C (p.Glu1839Gln) | gnomAD v4 |
12 | g.51806968G= | CA2036194181 | SCN8A | c.5482G= (p.Glu1828=) c.3546G= c.5359G= (p.Glu1787=) c.5515G= (p.Glu1839=) | |
12 | g.51806968G>T | CA384886672 | SCN8A | c.5482G>T (p.Glu1828Ter) c.3546G>T c.5359G>T (p.Glu1787Ter) c.5515G>T (p.Glu1839Ter) | dbSNP |
12 | g.51806969A>C | CA384886690 | SCN8A | c.5483A>C (p.Glu1828Ala) c.3547A>C c.5360A>C (p.Glu1787Ala) c.5516A>C (p.Glu1839Ala) | |
12 | g.51806969A>G | CA384886691 | SCN8A | c.5483A>G (p.Glu1828Gly) c.3547A>G c.5360A>G (p.Glu1787Gly) c.5516A>G (p.Glu1839Gly) | |
12 | g.51806969A>T | CA384886696 | SCN8A | c.5483A>T (p.Glu1828Val) c.3547A>T c.5360A>T (p.Glu1787Val) c.5516A>T (p.Glu1839Val) | |
12 | g.51806970G>A | CA480061866 | SCN8A | c.5484G>A (p.Glu1828=) c.3548G>A c.5361G>A (p.Glu1787=) c.5517G>A (p.Glu1839=) | gnomAD v4 |
12 | g.51806970G>C | CA384886702 | SCN8A | c.5484G>C (p.Glu1828Asp) c.3548G>C c.5361G>C (p.Glu1787Asp) c.5517G>C (p.Glu1839Asp) | |
12 | g.51806970G>T | CA384886714 | SCN8A | c.5484G>T (p.Glu1828Asp) c.3548G>T c.5361G>T (p.Glu1787Asp) c.5517G>T (p.Glu1839Asp) | gnomAD v4 |
12 | g.51806971C>A | CA384886726 | SCN8A | c.5485C>A (p.Leu1829Ile) c.3549C>A c.5362C>A (p.Leu1788Ile) c.5518C>A (p.Leu1840Ile) | |
12 | g.51806971C= | CA2036194183 | SCN8A | c.5485C= (p.Leu1829=) c.3549C= c.5362C= (p.Leu1788=) c.5518C= (p.Leu1840=) | |
12 | g.51806971C>G | CA384886745 | SCN8A | c.5485C>G (p.Leu1829Val) c.3549C>G c.5362C>G (p.Leu1788Val) c.5518C>G (p.Leu1840Val) | |
12 | g.51806971C>T | CA6571923 | SCN8A | c.5485C>T (p.Leu1829Phe) c.3549C>T c.5362C>T (p.Leu1788Phe) c.5518C>T (p.Leu1840Phe) | dbSNP ExAC |
12 | g.51806972T>A | CA384886786 | SCN8A | c.5486T>A (p.Leu1829His) c.3550T>A c.5363T>A (p.Leu1788His) c.5519T>A (p.Leu1840His) | |
12 | g.51806972T>C | CA384886761 | SCN8A | c.5486T>C (p.Leu1829Pro) c.3550T>C c.5363T>C (p.Leu1788Pro) c.5519T>C (p.Leu1840Pro) | |
12 | g.51806972T>G | CA384886780 | SCN8A | c.5486T>G (p.Leu1829Arg) c.3550T>G c.5363T>G (p.Leu1788Arg) c.5519T>G (p.Leu1840Arg) | |
12 | g.51806973C>A | CA480061869 | SCN8A | c.5487C>A (p.Leu1829=) c.3551C>A c.5364C>A (p.Leu1788=) c.5520C>A (p.Leu1840=) | |
12 | g.51806973C= | CA2036194186 | SCN8A | c.5487C= (p.Leu1829=) c.3551C= c.5364C= (p.Leu1788=) c.5520C= (p.Leu1840=) | |
12 | g.51806973C>G | CA480061870 | SCN8A | c.5487C>G (p.Leu1829=) c.3551C>G c.5364C>G (p.Leu1788=) c.5520C>G (p.Leu1840=) | dbSNP |
12 | g.51806973C>T | CA480061873 | SCN8A | c.5487C>T (p.Leu1829=) c.3551C>T c.5364C>T (p.Leu1788=) c.5520C>T (p.Leu1840=) | dbSNP COSMIC COSMIC |
12 | g.51806974A>C | CA384886801 | SCN8A | c.5488A>C (p.Ile1830Leu) c.3552A>C c.5365A>C (p.Ile1789Leu) c.5521A>C (p.Ile1841Leu) | |
12 | g.51806974A>G | CA384886804 | SCN8A | c.5488A>G (p.Ile1830Val) c.3552A>G c.5365A>G (p.Ile1789Val) c.5521A>G (p.Ile1841Val) | |
12 | g.51806974A>T | CA384886815 | SCN8A | c.5488A>T (p.Ile1830Phe) c.3552A>T c.5365A>T (p.Ile1789Phe) c.5521A>T (p.Ile1841Phe) | gnomAD v4 |
12 | g.51806975T>A | CA384886818 | SCN8A | c.5489T>A (p.Ile1830Asn) c.3553T>A c.5366T>A (p.Ile1789Asn) c.5522T>A (p.Ile1841Asn) | |
12 | g.51806975T>C | CA384886819 | SCN8A | c.5489T>C (p.Ile1830Thr) c.3553T>C c.5366T>C (p.Ile1789Thr) c.5522T>C (p.Ile1841Thr) | |
12 | g.51806975T>G | CA384886820 | SCN8A | c.5489T>G (p.Ile1830Ser) c.3553T>G c.5366T>G (p.Ile1789Ser) c.5522T>G (p.Ile1841Ser) | |
12 | g.51806976C>A | CA480061875 | SCN8A | c.5490C>A (p.Ile1830=) c.3554C>A c.5367C>A (p.Ile1789=) c.5523C>A (p.Ile1841=) | |
12 | g.51806976C= | CA2036194189 | SCN8A | c.5490C= (p.Ile1830=) c.3554C= c.5367C= (p.Ile1789=) c.5523C= (p.Ile1841=) | |
12 | g.51806976C>G | CA384886824 | SCN8A | c.5490C>G (p.Ile1830Met) c.3554C>G c.5367C>G (p.Ile1789Met) c.5523C>G (p.Ile1841Met) | |
12 | g.51806976C>T | CA6571924 | SCN8A | c.5490C>T (p.Ile1830=) c.3554C>T c.5367C>T (p.Ile1789=) c.5523C>T (p.Ile1841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806977G>A | CA6571925 | SCN8A | c.5491G>A (p.Ala1831Thr) c.3555G>A c.5368G>A (p.Ala1790Thr) c.5524G>A (p.Ala1842Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806977G>C | CA384886847 | SCN8A | c.5491G>C (p.Ala1831Pro) c.3555G>C c.5368G>C (p.Ala1790Pro) c.5524G>C (p.Ala1842Pro) | |
12 | g.51806977G= | CA2036194203 | SCN8A | c.5491G= (p.Ala1831=) c.3555G= c.5368G= (p.Ala1790=) c.5524G= (p.Ala1842=) | |
12 | g.51806977G>T | CA384886850 | SCN8A | c.5491G>T (p.Ala1831Ser) c.3555G>T c.5368G>T (p.Ala1790Ser) c.5524G>T (p.Ala1842Ser) | |
12 | g.51806978C>A | CA384886852 | SCN8A | c.5492C>A (p.Ala1831Asp) c.3556C>A c.5369C>A (p.Ala1790Asp) c.5525C>A (p.Ala1842Asp) | |
12 | g.51806978C>G | CA384886860 | SCN8A | c.5492C>G (p.Ala1831Gly) c.3556C>G c.5369C>G (p.Ala1790Gly) c.5525C>G (p.Ala1842Gly) | gnomAD v4 |
12 | g.51806978C>T | CA384886856 | SCN8A | c.5492C>T (p.Ala1831Val) c.3556C>T c.5369C>T (p.Ala1790Val) c.5525C>T (p.Ala1842Val) | |
12 | g.51806979T>A | CA480061882 | SCN8A | c.5493T>A (p.Ala1831=) c.3557T>A c.5370T>A (p.Ala1790=) c.5526T>A (p.Ala1842=) | |
12 | g.51806979T>C | CA480061883 | SCN8A | c.5493T>C (p.Ala1831=) c.3557T>C c.5370T>C (p.Ala1790=) c.5526T>C (p.Ala1842=) | |
12 | g.51806979T>G | CA480061884 | SCN8A | c.5493T>G (p.Ala1831=) c.3557T>G c.5370T>G (p.Ala1790=) c.5526T>G (p.Ala1842=) | |
12 | g.51806980A>C | CA384886865 | SCN8A | c.5494A>C (p.Met1832Leu) c.3558A>C c.5371A>C (p.Met1791Leu) c.5527A>C (p.Met1843Leu) | |
12 | g.51806980A>G | CA384886876 | SCN8A | c.5494A>G (p.Met1832Val) c.3558A>G c.5371A>G (p.Met1791Val) c.5527A>G (p.Met1843Val) | |
12 | g.51806980A>T | CA384886873 | SCN8A | c.5494A>T (p.Met1832Leu) c.3558A>T c.5371A>T (p.Met1791Leu) c.5527A>T (p.Met1843Leu) | |
12 | g.51806981T>A | CA384886877 | SCN8A | c.5495T>A (p.Met1832Lys) c.3559T>A c.5372T>A (p.Met1791Lys) c.5528T>A (p.Met1843Lys) | |
12 | g.51806981T>C | CA384886880 | SCN8A | c.5495T>C (p.Met1832Thr) c.3559T>C c.5372T>C (p.Met1791Thr) c.5528T>C (p.Met1843Thr) | |
12 | g.51806981T>G | CA384886882 | SCN8A | c.5495T>G (p.Met1832Arg) c.3559T>G c.5372T>G (p.Met1791Arg) c.5528T>G (p.Met1843Arg) | |
12 | g.51806982G>A | CA384886885 | SCN8A | c.5496G>A (p.Met1832Ile) c.3560G>A c.5373G>A (p.Met1791Ile) c.5529G>A (p.Met1843Ile) | COSMIC COSMIC |
12 | g.51806982G>C | CA384886887 | SCN8A | c.5496G>C (p.Met1832Ile) c.3560G>C c.5373G>C (p.Met1791Ile) c.5529G>C (p.Met1843Ile) | |
12 | g.51806982G>T | CA384886890 | SCN8A | c.5496G>T (p.Met1832Ile) c.3560G>T c.5373G>T (p.Met1791Ile) c.5529G>T (p.Met1843Ile) | |
12 | g.51806983G>A | CA384886910 | SCN8A | c.5497G>A (p.Asp1833Asn) c.3561G>A c.5374G>A (p.Asp1792Asn) c.5530G>A (p.Asp1844Asn) | |
12 | g.51806983G>C | CA384886914 | SCN8A | c.5497G>C (p.Asp1833His) c.3561G>C c.5374G>C (p.Asp1792His) c.5530G>C (p.Asp1844His) | |
12 | g.51806983G>T | CA384886918 | SCN8A | c.5497G>T (p.Asp1833Tyr) c.3561G>T c.5374G>T (p.Asp1792Tyr) c.5530G>T (p.Asp1844Tyr) | |
12 | g.51806984A>C | CA384886921 | SCN8A | c.5498A>C (p.Asp1833Ala) c.3562A>C c.5375A>C (p.Asp1792Ala) c.5531A>C (p.Asp1844Ala) | |
12 | g.51806984A>G | CA384886922 | SCN8A | c.5498A>G (p.Asp1833Gly) c.3562A>G c.5375A>G (p.Asp1792Gly) c.5531A>G (p.Asp1844Gly) | ClinVar |
12 | g.51806984A>T | CA384886923 | SCN8A | c.5498A>T (p.Asp1833Val) c.3562A>T c.5375A>T (p.Asp1792Val) c.5531A>T (p.Asp1844Val) | |
12 | g.51806985T>A | CA384886937 | SCN8A | c.5499T>A (p.Asp1833Glu) c.3563T>A c.5376T>A (p.Asp1792Glu) c.5532T>A (p.Asp1844Glu) | ClinVar dbSNP |
12 | g.51806985T>C | CA480061890 | SCN8A | c.5499T>C (p.Asp1833=) c.3563T>C c.5376T>C (p.Asp1792=) c.5532T>C (p.Asp1844=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806985T>G | CA384886933 | SCN8A | c.5499T>G (p.Asp1833Glu) c.3563T>G c.5376T>G (p.Asp1792Glu) c.5532T>G (p.Asp1844Glu) | |
12 | g.51806985T= | CA2036194213 | SCN8A | c.5499T= (p.Asp1833=) c.3563T= c.5376T= (p.Asp1792=) c.5532T= (p.Asp1844=) | |
12 | g.51806986C>A | CA384886941 | SCN8A | c.5500C>A (p.Leu1834Met) c.3564C>A c.5377C>A (p.Leu1793Met) c.5533C>A (p.Leu1845Met) | |
12 | g.51806986C>G | CA384886945 | SCN8A | c.5500C>G (p.Leu1834Val) c.3564C>G c.5377C>G (p.Leu1793Val) c.5533C>G (p.Leu1845Val) | |
12 | g.51806986C>T | CA480061892 | SCN8A | c.5500C>T (p.Leu1834=) c.3564C>T c.5377C>T (p.Leu1793=) c.5533C>T (p.Leu1845=) | gnomAD v4 |
12 | g.51806987T>A | CA384886949 | SCN8A | c.5501T>A (p.Leu1834Gln) c.3565T>A c.5378T>A (p.Leu1793Gln) c.5534T>A (p.Leu1845Gln) | |
12 | g.51806987T>C | CA384886953 | SCN8A | c.5501T>C (p.Leu1834Pro) c.3565T>C c.5378T>C (p.Leu1793Pro) c.5534T>C (p.Leu1845Pro) | |
12 | g.51806987T>G | CA384886959 | SCN8A | c.5501T>G (p.Leu1834Arg) c.3565T>G c.5378T>G (p.Leu1793Arg) c.5534T>G (p.Leu1845Arg) | |
12 | g.51806988G>A | CA480061895 | SCN8A | c.5502G>A (p.Leu1834=) c.3566G>A c.5379G>A (p.Leu1793=) c.5535G>A (p.Leu1845=) | |
12 | g.51806988G>C | CA480061896 | SCN8A | c.5502G>C (p.Leu1834=) c.3566G>C c.5379G>C (p.Leu1793=) c.5535G>C (p.Leu1845=) | |
12 | g.51806988G>T | CA480061898 | SCN8A | c.5502G>T (p.Leu1834=) c.3566G>T c.5379G>T (p.Leu1793=) c.5535G>T (p.Leu1845=) | |
12 | g.51806989C>A | CA384886984 | SCN8A | c.5503C>A (p.Pro1835Thr) c.3567C>A c.5380C>A (p.Pro1794Thr) c.5536C>A (p.Pro1846Thr) | |
12 | g.51806989C>G | CA384886973 | SCN8A | c.5503C>G (p.Pro1835Ala) c.3567C>G c.5380C>G (p.Pro1794Ala) c.5536C>G (p.Pro1846Ala) | |
12 | g.51806989C>T | CA384886969 | SCN8A | c.5503C>T (p.Pro1835Ser) c.3567C>T c.5380C>T (p.Pro1794Ser) c.5536C>T (p.Pro1846Ser) | |
12 | g.51806990del | CA2839011418 | SCN8A | c.5504del (p.Pro1835GlnfsTer3) c.3568del c.5381del (p.Pro1794GlnfsTer3) c.5537del (p.Pro1846GlnfsTer3) | |
12 | g.51806990C>A | CA384886989 | SCN8A | c.5504C>A (p.Pro1835Gln) c.3568C>A c.5381C>A (p.Pro1794Gln) c.5537C>A (p.Pro1846Gln) | |
12 | g.51806990C>G | CA384886990 | SCN8A | c.5504C>G (p.Pro1835Arg) c.3568C>G c.5381C>G (p.Pro1794Arg) c.5537C>G (p.Pro1846Arg) | |
12 | g.51806990C>T | CA384886991 | SCN8A | c.5504C>T (p.Pro1835Leu) c.3568C>T c.5381C>T (p.Pro1794Leu) c.5537C>T (p.Pro1846Leu) | |
12 | g.51806991A= | CA2036194217 | SCN8A | c.5505A= (p.Pro1835=) c.3569A= c.5382A= (p.Pro1794=) c.5538A= (p.Pro1846=) | |
12 | g.51806991A>C | CA480061901 | SCN8A | c.5505A>C (p.Pro1835=) c.3569A>C c.5382A>C (p.Pro1794=) c.5538A>C (p.Pro1846=) | gnomAD v4 |
12 | g.51806991A>G | CA480061902 | SCN8A | c.5505A>G (p.Pro1835=) c.3569A>G c.5382A>G (p.Pro1794=) c.5538A>G (p.Pro1846=) | dbSNP gnomAD v4 COSMIC |
12 | g.51806991A>T | CA480061903 | SCN8A | c.5505A>T (p.Pro1835=) c.3569A>T c.5382A>T (p.Pro1794=) c.5538A>T (p.Pro1846=) | |
12 | g.51806992A= | CA2036194227 | SCN8A | c.5506A= (p.Met1836=) c.3570A= c.5383A= (p.Met1795=) c.5539A= (p.Met1847=) | |
12 | g.51806992A>C | CA384886994 | SCN8A | c.5506A>C (p.Met1836Leu) c.3570A>C c.5383A>C (p.Met1795Leu) c.5539A>C (p.Met1847Leu) | |
12 | g.51806992A>G | CA6571926 | SCN8A | c.5506A>G (p.Met1836Val) c.3570A>G c.5383A>G (p.Met1795Val) c.5539A>G (p.Met1847Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806992A>T | CA236327668 | SCN8A | c.5506A>T (p.Met1836Leu) c.3570A>T c.5383A>T (p.Met1795Leu) c.5539A>T (p.Met1847Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806993T>A | CA384887002 | SCN8A | c.5507T>A (p.Met1836Lys) c.3571T>A c.5384T>A (p.Met1795Lys) c.5540T>A (p.Met1847Lys) | |
12 | g.51806993T>C | CA384887004 | SCN8A | c.5507T>C (p.Met1836Thr) c.3571T>C c.5384T>C (p.Met1795Thr) c.5540T>C (p.Met1847Thr) | dbSNP gnomAD v4 |
12 | g.51806993T>G | CA384887003 | SCN8A | c.5507T>G (p.Met1836Arg) c.3571T>G c.5384T>G (p.Met1795Arg) c.5540T>G (p.Met1847Arg) | |
12 | g.51806993T= | CA2036194231 | SCN8A | c.5507T= (p.Met1836=) c.3571T= c.5384T= (p.Met1795=) c.5540T= (p.Met1847=) | |
12 | g.51806994G>A | CA384887008 | SCN8A | c.5508G>A (p.Met1836Ile) c.3572G>A c.5385G>A (p.Met1795Ile) c.5541G>A (p.Met1847Ile) | |
12 | g.51806994G>C | CA384887019 | SCN8A | c.5508G>C (p.Met1836Ile) c.3572G>C c.5385G>C (p.Met1795Ile) c.5541G>C (p.Met1847Ile) | |
12 | g.51806994G>T | CA384887026 | SCN8A | c.5508G>T (p.Met1836Ile) c.3572G>T c.5385G>T (p.Met1795Ile) c.5541G>T (p.Met1847Ile) | |
12 | g.51806995G>A | CA384887030 | SCN8A | c.5509G>A (p.Val1837Met) c.3573G>A c.5386G>A (p.Val1796Met) c.5542G>A (p.Val1848Met) | |
12 | g.51806995G>C | CA384887031 | SCN8A | c.5509G>C (p.Val1837Leu) c.3573G>C c.5386G>C (p.Val1796Leu) c.5542G>C (p.Val1848Leu) | |
12 | g.51806995G>T | CA384887033 | SCN8A | c.5509G>T (p.Val1837Leu) c.3573G>T c.5386G>T (p.Val1796Leu) c.5542G>T (p.Val1848Leu) | |
12 | g.51806996T>A | CA384887038 | SCN8A | c.5510T>A (p.Val1837Glu) c.3574T>A c.5387T>A (p.Val1796Glu) c.5543T>A (p.Val1848Glu) | |
12 | g.51806996T>C | CA384887052 | SCN8A | c.5510T>C (p.Val1837Ala) c.3574T>C c.5387T>C (p.Val1796Ala) c.5543T>C (p.Val1848Ala) | |
12 | g.51806996T>G | CA384887056 | SCN8A | c.5510T>G (p.Val1837Gly) c.3574T>G c.5387T>G (p.Val1796Gly) c.5543T>G (p.Val1848Gly) | |
12 | g.51806997G>A | CA480061912 | SCN8A | c.5511G>A (p.Val1837=) c.3575G>A c.5388G>A (p.Val1796=) c.5544G>A (p.Val1848=) | |
12 | g.51806997G>C | CA480061911 | SCN8A | c.5511G>C (p.Val1837=) c.3575G>C c.5388G>C (p.Val1796=) c.5544G>C (p.Val1848=) | |
12 | g.51806997G>T | CA480061910 | SCN8A | c.5511G>T (p.Val1837=) c.3575G>T c.5388G>T (p.Val1796=) c.5544G>T (p.Val1848=) | |
12 | g.51806998A>C | CA384887060 | SCN8A | c.5512A>C (p.Ser1838Arg) c.3576A>C c.5389A>C (p.Ser1797Arg) c.5545A>C (p.Ser1849Arg) | |
12 | g.51806998A>G | CA384887061 | SCN8A | c.5512A>G (p.Ser1838Gly) c.3576A>G c.5389A>G (p.Ser1797Gly) c.5545A>G (p.Ser1849Gly) | |
12 | g.51806998A>T | CA384887062 | SCN8A | c.5512A>T (p.Ser1838Cys) c.3576A>T c.5389A>T (p.Ser1797Cys) c.5545A>T (p.Ser1849Cys) | |
12 | g.51806999G>A | CA384887073 | SCN8A | c.5513G>A (p.Ser1838Asn) c.3577G>A c.5390G>A (p.Ser1797Asn) c.5546G>A (p.Ser1849Asn) | |
12 | g.51806999G>C | CA384887067 | SCN8A | c.5513G>C (p.Ser1838Thr) c.3577G>C c.5390G>C (p.Ser1797Thr) c.5546G>C (p.Ser1849Thr) | |
12 | g.51806999G>T | CA384887066 | SCN8A | c.5513G>T (p.Ser1838Ile) c.3577G>T c.5390G>T (p.Ser1797Ile) c.5546G>T (p.Ser1849Ile) | |
12 | g.51807000C>A | CA384887074 | SCN8A | c.5514C>A (p.Ser1838Arg) c.3578C>A c.5391C>A (p.Ser1797Arg) c.5547C>A (p.Ser1849Arg) | |
12 | g.51807000C= | CA2036194235 | SCN8A | c.5514C= (p.Ser1838=) c.3578C= c.5391C= (p.Ser1797=) c.5547C= (p.Ser1849=) | |
12 | g.51807000C>G | CA384887077 | SCN8A | c.5514C>G (p.Ser1838Arg) c.3578C>G c.5391C>G (p.Ser1797Arg) c.5547C>G (p.Ser1849Arg) | |
12 | g.51807000C>T | CA6571927 | SCN8A | c.5514C>T (p.Ser1838=) c.3578C>T c.5391C>T (p.Ser1797=) c.5547C>T (p.Ser1849=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807001G>A | CA384887082 | SCN8A | c.5515G>A (p.Gly1839Arg) c.5392G>A (p.Gly1798Arg) c.5548G>A (p.Gly1850Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.51807001G>C | CA384887084 | SCN8A | c.5515G>C (p.Gly1839Arg) c.5392G>C (p.Gly1798Arg) c.5548G>C (p.Gly1850Arg) | gnomAD v4 |
12 | g.51807001G= | CA2036194241 | SCN8A | c.5515G= (p.Gly1839=) c.5392G= (p.Gly1798=) c.5548G= (p.Gly1850=) | |
12 | g.51807001G>T | CA384887088 | SCN8A | c.5515G>T (p.Gly1839Trp) c.5392G>T (p.Gly1798Trp) c.5548G>T (p.Gly1850Trp) | |
12 | g.51807002G>A | CA384887089 | SCN8A | c.5516G>A (p.Gly1839Glu) c.5393G>A (p.Gly1798Glu) c.5549G>A (p.Gly1850Glu) | |
12 | g.51807002G>C | CA384887090 | SCN8A | c.5516G>C (p.Gly1839Ala) c.5393G>C (p.Gly1798Ala) c.5549G>C (p.Gly1850Ala) | |
12 | g.51807002G>T | CA384887091 | SCN8A | c.5516G>T (p.Gly1839Val) c.5393G>T (p.Gly1798Val) c.5549G>T (p.Gly1850Val) | gnomAD v4 |