Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806629C>A | CA384883785 | SCN8A | c.5143C>A (p.Leu1715Ile) c.3207C>A c.5020C>A (p.Leu1674Ile) c.5176C>A (p.Leu1726Ile) | |
12 | g.51806629C>G | CA384883795 | SCN8A | c.5143C>G (p.Leu1715Val) c.3207C>G c.5020C>G (p.Leu1674Val) c.5176C>G (p.Leu1726Val) | |
12 | g.51806629C>T | CA480062059 | SCN8A | c.5143C>T (p.Leu1715=) c.3207C>T c.5020C>T (p.Leu1674=) c.5176C>T (p.Leu1726=) | |
12 | g.51806630T>A | CA384883807 | SCN8A | c.5144T>A (p.Leu1715Gln) c.3208T>A c.5021T>A (p.Leu1674Gln) c.5177T>A (p.Leu1726Gln) | |
12 | g.51806630T>C | CA384883822 | SCN8A | c.5144T>C (p.Leu1715Pro) c.3208T>C c.5021T>C (p.Leu1674Pro) c.5177T>C (p.Leu1726Pro) | |
12 | g.51806630T>G | CA384883827 | SCN8A | c.5144T>G (p.Leu1715Arg) c.3208T>G c.5021T>G (p.Leu1674Arg) c.5177T>G (p.Leu1726Arg) | |
12 | g.51806631A= | CA2036193362 | SCN8A | c.5145A= (p.Leu1715=) c.3209A= c.5022A= (p.Leu1674=) c.5178A= (p.Leu1726=) | |
12 | g.51806631A>C | CA480062061 | SCN8A | c.5145A>C (p.Leu1715=) c.3209A>C c.5022A>C (p.Leu1674=) c.5178A>C (p.Leu1726=) | |
12 | g.51806631A>G | CA6571891 | SCN8A | c.5145A>G (p.Leu1715=) c.3209A>G c.5022A>G (p.Leu1674=) c.5178A>G (p.Leu1726=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806631A>T | CA480062066 | SCN8A | c.5145A>T (p.Leu1715=) c.3209A>T c.5022A>T (p.Leu1674=) c.5178A>T (p.Leu1726=) | |
12 | g.51806632A>C | CA384883835 | SCN8A | c.5146A>C (p.Asn1716His) c.3210A>C c.5023A>C (p.Asn1675His) c.5179A>C (p.Asn1727His) | |
12 | g.51806632A>G | CA384883854 | SCN8A | c.5146A>G (p.Asn1716Asp) c.3210A>G c.5023A>G (p.Asn1675Asp) c.5179A>G (p.Asn1727Asp) | |
12 | g.51806632A>T | CA384883858 | SCN8A | c.5146A>T (p.Asn1716Tyr) c.3210A>T c.5023A>T (p.Asn1675Tyr) c.5179A>T (p.Asn1727Tyr) | |
12 | g.51806633A>C | CA384883879 | SCN8A | c.5147A>C (p.Asn1716Thr) c.3211A>C c.5024A>C (p.Asn1675Thr) c.5180A>C (p.Asn1727Thr) | |
12 | g.51806633A>G | CA384883878 | SCN8A | c.5147A>G (p.Asn1716Ser) c.3211A>G c.5024A>G (p.Asn1675Ser) c.5180A>G (p.Asn1727Ser) | |
12 | g.51806633A>T | CA384883872 | SCN8A | c.5147A>T (p.Asn1716Ile) c.3211A>T c.5024A>T (p.Asn1675Ile) c.5180A>T (p.Asn1727Ile) | |
12 | g.51806634C>A | CA384883884 | SCN8A | c.5148C>A (p.Asn1716Lys) c.3212C>A c.5025C>A (p.Asn1675Lys) c.5181C>A (p.Asn1727Lys) | |
12 | g.51806634C= | CA2036193368 | SCN8A | c.5148C= (p.Asn1716=) c.3212C= c.5025C= (p.Asn1675=) c.5181C= (p.Asn1727=) | |
12 | g.51806634C>G | CA384883887 | SCN8A | c.5148C>G (p.Asn1716Lys) c.3212C>G c.5025C>G (p.Asn1675Lys) c.5181C>G (p.Asn1727Lys) | dbSNP |
12 | g.51806634C>T | CA480062075 | SCN8A | c.5148C>T (p.Asn1716=) c.3212C>T c.5025C>T (p.Asn1675=) c.5181C>T (p.Asn1727=) | COSMIC COSMIC |
12 | g.51806635C>A | CA384883892 | SCN8A | c.5149C>A (p.Arg1717Ser) c.3213C>A c.5026C>A (p.Arg1676Ser) c.5182C>A (p.Arg1728Ser) | |
12 | g.51806635C= | CA2036193373 | SCN8A | c.5149C= (p.Arg1717=) c.3213C= c.5026C= (p.Arg1676=) c.5182C= (p.Arg1728=) | |
12 | g.51806635C>G | CA384883895 | SCN8A | c.5149C>G (p.Arg1717Gly) c.3213C>G c.5026C>G (p.Arg1676Gly) c.5182C>G (p.Arg1728Gly) | ClinVar dbSNP gnomAD v4 |
12 | g.51806635C>T | CA384883901 | SCN8A | c.5149C>T (p.Arg1717Cys) c.3213C>T c.5026C>T (p.Arg1676Cys) c.5182C>T (p.Arg1728Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806636G>A | CA6571892 | SCN8A | c.5150G>A (p.Arg1717His) c.3214G>A c.5027G>A (p.Arg1676His) c.5183G>A (p.Arg1728His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806636G>C | CA384883924 | SCN8A | c.5150G>C (p.Arg1717Pro) c.3214G>C c.5027G>C (p.Arg1676Pro) c.5183G>C (p.Arg1728Pro) | |
12 | g.51806636G= | CA2036193378 | SCN8A | c.5150G= (p.Arg1717=) c.3214G= c.5027G= (p.Arg1676=) c.5183G= (p.Arg1728=) | |
12 | g.51806636G>T | CA384883933 | SCN8A | c.5150G>T (p.Arg1717Leu) c.3214G>T c.5027G>T (p.Arg1676Leu) c.5183G>T (p.Arg1728Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806637C>A | CA480062082 | SCN8A | c.5151C>A (p.Arg1717=) c.3215C>A c.5028C>A (p.Arg1676=) c.5184C>A (p.Arg1728=) | |
12 | g.51806637C= | CA2036193390 | SCN8A | c.5151C= (p.Arg1717=) c.3215C= c.5028C= (p.Arg1676=) c.5184C= (p.Arg1728=) | |
12 | g.51806637C>G | CA480062081 | SCN8A | c.5151C>G (p.Arg1717=) c.3215C>G c.5028C>G (p.Arg1676=) c.5184C>G (p.Arg1728=) | |
12 | g.51806637C>T | CA6571893 | SCN8A | c.5151C>T (p.Arg1717=) c.3215C>T c.5028C>T (p.Arg1676=) c.5184C>T (p.Arg1728=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806642dup | CA605238622 | SCN8A | c.5156dup (p.Asp1720Ter) c.3220dup c.5033dup (p.Asp1679Ter) c.5189dup (p.Asp1731Ter) | ClinVar dbSNP gnomAD v2 |
12 | g.51806641_51806642dup | CA2795967144 | SCN8A | c.5155_5156dup (p.Asp1720LeufsTer5) c.3219_3220dup c.5032_5033dup (p.Asp1679LeufsTer5) c.5188_5189dup (p.Asp1731LeufsTer5) | |
12 | g.51806638C>A | CA384883939 | SCN8A | c.5152C>A (p.Pro1718Thr) c.3216C>A c.5029C>A (p.Pro1677Thr) c.5185C>A (p.Pro1729Thr) | gnomAD v4 |
12 | g.51806638C= | CA2036193398 | SCN8A | c.5152C= (p.Pro1718=) c.3216C= c.5029C= (p.Pro1677=) c.5185C= (p.Pro1729=) | |
12 | g.51806638C>G | CA384883941 | SCN8A | c.5152C>G (p.Pro1718Ala) c.3216C>G c.5029C>G (p.Pro1677Ala) c.5185C>G (p.Pro1729Ala) | |
12 | g.51806638C>T | CA242781 | SCN8A | c.5152C>T (p.Pro1718Ser) c.3216C>T c.5029C>T (p.Pro1677Ser) c.5185C>T (p.Pro1729Ser) | ClinVar dbSNP |
12 | g.51806639C>A | CA384883956 | SCN8A | c.5153C>A (p.Pro1718His) c.3217C>A c.5030C>A (p.Pro1677His) c.5186C>A (p.Pro1729His) | |
12 | g.51806639C>G | CA384883954 | SCN8A | c.5153C>G (p.Pro1718Arg) c.3217C>G c.5030C>G (p.Pro1677Arg) c.5186C>G (p.Pro1729Arg) | |
12 | g.51806639C>T | CA384883951 | SCN8A | c.5153C>T (p.Pro1718Leu) c.3217C>T c.5030C>T (p.Pro1677Leu) c.5186C>T (p.Pro1729Leu) | |
12 | g.51806640C>A | CA480062085 | SCN8A | c.5154C>A (p.Pro1718=) c.3218C>A c.5031C>A (p.Pro1677=) c.5187C>A (p.Pro1729=) | |
12 | g.51806640C>G | CA480062086 | SCN8A | c.5154C>G (p.Pro1718=) c.3218C>G c.5031C>G (p.Pro1677=) c.5187C>G (p.Pro1729=) | |
12 | g.51806640C>T | CA480062088 | SCN8A | c.5154C>T (p.Pro1718=) c.3218C>T c.5031C>T (p.Pro1677=) c.5187C>T (p.Pro1729=) | |
12 | g.51806641C>A | CA384883961 | SCN8A | c.5155C>A (p.Pro1719Thr) c.3219C>A c.5032C>A (p.Pro1678Thr) c.5188C>A (p.Pro1730Thr) | |
12 | g.51806641C= | CA2036193406 | SCN8A | c.5155C= (p.Pro1719=) c.3219C= c.5032C= (p.Pro1678=) c.5188C= (p.Pro1730=) | |
12 | g.51806641C>G | CA384883967 | SCN8A | c.5155C>G (p.Pro1719Ala) c.3219C>G c.5032C>G (p.Pro1678Ala) c.5188C>G (p.Pro1730Ala) | ClinVar dbSNP |
12 | g.51806641C>T | CA384883968 | SCN8A | c.5155C>T (p.Pro1719Ser) c.3219C>T c.5032C>T (p.Pro1678Ser) c.5188C>T (p.Pro1730Ser) | |
12 | g.51806641_51806643delinsCCT | CA2036193404 | SCN8A | c.5155_5157delinsCCT (p.Pro1719=) c.3219_3221delinsCCT c.5032_5034delinsCCT (p.Pro1678=) c.5188_5190delinsCCT (p.Pro1730=) | |
12 | g.51806642C>A | CA384883975 | SCN8A | c.5156C>A (p.Pro1719His) c.3220C>A c.5033C>A (p.Pro1678His) c.5189C>A (p.Pro1730His) | |
12 | g.51806642C= | CA2036193418 | SCN8A | c.5156C= (p.Pro1719=) c.3220C= c.5033C= (p.Pro1678=) c.5189C= (p.Pro1730=) | |
12 | g.51806642C>G | CA384883977 | SCN8A | c.5156C>G (p.Pro1719Arg) c.3220C>G c.5033C>G (p.Pro1678Arg) c.5189C>G (p.Pro1730Arg) | ClinVar dbSNP |
12 | g.51806642C>T | CA384883980 | SCN8A | c.5156C>T (p.Pro1719Leu) c.3220C>T c.5033C>T (p.Pro1678Leu) c.5189C>T (p.Pro1730Leu) | |
12 | g.51806642_51806643del | CA119993 | SCN8A | c.5156_5157del (p.Pro1719ArgfsTer6) c.3220_3221del c.5033_5034del (p.Pro1678ArgfsTer6) c.5189_5190del (p.Pro1730ArgfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806643del | CA2499221740 | SCN8A | c.5157del (p.Asp1720ThrfsTer4) c.3221del c.5034del (p.Asp1679ThrfsTer4) c.5190del (p.Asp1731ThrfsTer4) | ClinVar dbSNP |
12 | g.51806643T>A | CA480062097 | SCN8A | c.5157T>A (p.Pro1719=) c.3221T>A c.5034T>A (p.Pro1678=) c.5190T>A (p.Pro1730=) | |
12 | g.51806643T>C | CA480062098 | SCN8A | c.5157T>C (p.Pro1719=) c.3221T>C c.5034T>C (p.Pro1678=) c.5190T>C (p.Pro1730=) | |
12 | g.51806643T>G | CA480062099 | SCN8A | c.5157T>G (p.Pro1719=) c.3221T>G c.5034T>G (p.Pro1678=) c.5190T>G (p.Pro1730=) | |
12 | g.51806644G>A | CA384884013 | SCN8A | c.5158G>A (p.Asp1720Asn) c.3222G>A c.5035G>A (p.Asp1679Asn) c.5191G>A (p.Asp1731Asn) | |
12 | g.51806644G>C | CA384883999 | SCN8A | c.5158G>C (p.Asp1720His) c.3222G>C c.5035G>C (p.Asp1679His) c.5191G>C (p.Asp1731His) | |
12 | g.51806644G>T | CA384884004 | SCN8A | c.5158G>T (p.Asp1720Tyr) c.3222G>T c.5035G>T (p.Asp1679Tyr) c.5191G>T (p.Asp1731Tyr) | |
12 | g.51806645A>C | CA384884017 | SCN8A | c.5159A>C (p.Asp1720Ala) c.3223A>C c.5036A>C (p.Asp1679Ala) c.5192A>C (p.Asp1731Ala) | |
12 | g.51806645A>G | CA384884020 | SCN8A | c.5159A>G (p.Asp1720Gly) c.3223A>G c.5036A>G (p.Asp1679Gly) c.5192A>G (p.Asp1731Gly) | |
12 | g.51806645A>T | CA384884021 | SCN8A | c.5159A>T (p.Asp1720Val) c.3223A>T c.5036A>T (p.Asp1679Val) c.5192A>T (p.Asp1731Val) | |
12 | g.51806646C>A | CA6571894 | SCN8A | c.5160C>A (p.Asp1720Glu) c.3224C>A c.5037C>A (p.Asp1679Glu) c.5193C>A (p.Asp1731Glu) | dbSNP ExAC |
12 | g.51806646C= | CA2036193427 | SCN8A | c.5160C= (p.Asp1720=) c.3224C= c.5037C= (p.Asp1679=) c.5193C= (p.Asp1731=) | |
12 | g.51806646C>G | CA384884033 | SCN8A | c.5160C>G (p.Asp1720Glu) c.3224C>G c.5037C>G (p.Asp1679Glu) c.5193C>G (p.Asp1731Glu) | |
12 | g.51806646C>T | CA480062104 | SCN8A | c.5160C>T (p.Asp1720=) c.3224C>T c.5037C>T (p.Asp1679=) c.5193C>T (p.Asp1731=) | dbSNP |
12 | g.51806647T>A | CA384884034 | SCN8A | c.5161T>A (p.Cys1721Ser) c.3225T>A c.5038T>A (p.Cys1680Ser) c.5194T>A (p.Cys1732Ser) | |
12 | g.51806647T>C | CA384884039 | SCN8A | c.5161T>C (p.Cys1721Arg) c.3225T>C c.5038T>C (p.Cys1680Arg) c.5194T>C (p.Cys1732Arg) | |
12 | g.51806647T>G | CA384884035 | SCN8A | c.5161T>G (p.Cys1721Gly) c.3225T>G c.5038T>G (p.Cys1680Gly) c.5194T>G (p.Cys1732Gly) | |
12 | g.51806648G>A | CA384884043 | SCN8A | c.5162G>A (p.Cys1721Tyr) c.3226G>A c.5039G>A (p.Cys1680Tyr) c.5195G>A (p.Cys1732Tyr) | ClinVar dbSNP |
12 | g.51806648G>C | CA384884050 | SCN8A | c.5162G>C (p.Cys1721Ser) c.3226G>C c.5039G>C (p.Cys1680Ser) c.5195G>C (p.Cys1732Ser) | |
12 | g.51806648G>T | CA384884055 | SCN8A | c.5162G>T (p.Cys1721Phe) c.3226G>T c.5039G>T (p.Cys1680Phe) c.5195G>T (p.Cys1732Phe) | COSMIC COSMIC |
12 | g.51806649C>A | CA384884060 | SCN8A | c.5163C>A (p.Cys1721Ter) c.3227C>A c.5040C>A (p.Cys1680Ter) c.5196C>A (p.Cys1732Ter) | dbSNP |
12 | g.51806649C= | CA2036193443 | SCN8A | c.5163C= (p.Cys1721=) c.3227C= c.5040C= (p.Cys1680=) c.5196C= (p.Cys1732=) | |
12 | g.51806649C>G | CA384884063 | SCN8A | c.5163C>G (p.Cys1721Trp) c.3227C>G c.5040C>G (p.Cys1680Trp) c.5196C>G (p.Cys1732Trp) | |
12 | g.51806649C>T | CA480062108 | SCN8A | c.5163C>T (p.Cys1721=) c.3227C>T c.5040C>T (p.Cys1680=) c.5196C>T (p.Cys1732=) | ClinVar dbSNP |
12 | g.51806650A>C | CA384884080 | SCN8A | c.5164A>C (p.Ser1722Arg) c.3228A>C c.5041A>C (p.Ser1681Arg) c.5197A>C (p.Ser1733Arg) | |
12 | g.51806650A>G | CA384884084 | SCN8A | c.5164A>G (p.Ser1722Gly) c.3228A>G c.5041A>G (p.Ser1681Gly) c.5197A>G (p.Ser1733Gly) | gnomAD v4 |
12 | g.51806650A>T | CA384884088 | SCN8A | c.5164A>T (p.Ser1722Cys) c.3228A>T c.5041A>T (p.Ser1681Cys) c.5197A>T (p.Ser1733Cys) | |
12 | g.51806651G>A | CA384884093 | SCN8A | c.5165G>A (p.Ser1722Asn) c.3229G>A c.5042G>A (p.Ser1681Asn) c.5198G>A (p.Ser1733Asn) | |
12 | g.51806651G>C | CA384884094 | SCN8A | c.5165G>C (p.Ser1722Thr) c.3229G>C c.5042G>C (p.Ser1681Thr) c.5198G>C (p.Ser1733Thr) | |
12 | g.51806651G>T | CA384884095 | SCN8A | c.5165G>T (p.Ser1722Ile) c.3229G>T c.5042G>T (p.Ser1681Ile) c.5198G>T (p.Ser1733Ile) | ClinVar |
12 | g.51806652C>A | CA384884100 | SCN8A | c.5166C>A (p.Ser1722Arg) c.3230C>A c.5043C>A (p.Ser1681Arg) c.5199C>A (p.Ser1733Arg) | |
12 | g.51806652C= | CA2036193448 | SCN8A | c.5166C= (p.Ser1722=) c.3230C= c.5043C= (p.Ser1681=) c.5199C= (p.Ser1733=) | |
12 | g.51806652C>G | CA384884106 | SCN8A | c.5166C>G (p.Ser1722Arg) c.3230C>G c.5043C>G (p.Ser1681Arg) c.5199C>G (p.Ser1733Arg) | gnomAD v4 |
12 | g.51806652C>T | CA6571895 | SCN8A | c.5166C>T (p.Ser1722=) c.3230C>T c.5043C>T (p.Ser1681=) c.5199C>T (p.Ser1733=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806653C>A | CA384884111 | SCN8A | c.5167C>A (p.Leu1723Ile) c.3231C>A c.5044C>A (p.Leu1682Ile) c.5200C>A (p.Leu1734Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806653C= | CA2036193459 | SCN8A | c.5167C= (p.Leu1723=) c.3231C= c.5044C= (p.Leu1682=) c.5200C= (p.Leu1734=) | |
12 | g.51806653C>G | CA384884126 | SCN8A | c.5167C>G (p.Leu1723Val) c.3231C>G c.5044C>G (p.Leu1682Val) c.5200C>G (p.Leu1734Val) | ClinVar dbSNP gnomAD v4 |
12 | g.51806653C>T | CA236327499 | SCN8A | c.5167C>T (p.Leu1723=) c.3231C>T c.5044C>T (p.Leu1682=) c.5200C>T (p.Leu1734=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806654T>A | CA384884132 | SCN8A | c.5168T>A (p.Leu1723Gln) c.3232T>A c.5045T>A (p.Leu1682Gln) c.5201T>A (p.Leu1734Gln) | |
12 | g.51806654T>C | CA384884137 | SCN8A | c.5168T>C (p.Leu1723Pro) c.3232T>C c.5045T>C (p.Leu1682Pro) c.5201T>C (p.Leu1734Pro) | |
12 | g.51806654T>G | CA384884140 | SCN8A | c.5168T>G (p.Leu1723Arg) c.3232T>G c.5045T>G (p.Leu1682Arg) c.5201T>G (p.Leu1734Arg) | |
12 | g.51806655A>C | CA480062133 | SCN8A | c.5169A>C (p.Leu1723=) c.3233A>C c.5046A>C (p.Leu1682=) c.5202A>C (p.Leu1734=) | |
12 | g.51806655A>G | CA480062135 | SCN8A | c.5169A>G (p.Leu1723=) c.3233A>G c.5046A>G (p.Leu1682=) c.5202A>G (p.Leu1734=) | |
12 | g.51806655A>T | CA480062137 | SCN8A | c.5169A>T (p.Leu1723=) c.3233A>T c.5046A>T (p.Leu1682=) c.5202A>T (p.Leu1734=) | |
12 | g.51806656G>A | CA384884152 | SCN8A | c.5170G>A (p.Asp1724Asn) c.3234G>A c.5047G>A (p.Asp1683Asn) c.5203G>A (p.Asp1735Asn) | |
12 | g.51806656G>C | CA384884156 | SCN8A | c.5170G>C (p.Asp1724His) c.3234G>C c.5047G>C (p.Asp1683His) c.5203G>C (p.Asp1735His) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806656G= | CA2036193468 | SCN8A | c.5170G= (p.Asp1724=) c.3234G= c.5047G= (p.Asp1683=) c.5203G= (p.Asp1735=) | |
12 | g.51806656G>T | CA384884172 | SCN8A | c.5170G>T (p.Asp1724Tyr) c.3234G>T c.5047G>T (p.Asp1683Tyr) c.5203G>T (p.Asp1735Tyr) | ClinVar dbSNP |
12 | g.51806657A>C | CA384884179 | SCN8A | c.5171A>C (p.Asp1724Ala) c.3235A>C c.5048A>C (p.Asp1683Ala) c.5204A>C (p.Asp1735Ala) | |
12 | g.51806657A>G | CA384884185 | SCN8A | c.5171A>G (p.Asp1724Gly) c.3235A>G c.5048A>G (p.Asp1683Gly) c.5204A>G (p.Asp1735Gly) | |
12 | g.51806657A>T | CA384884189 | SCN8A | c.5171A>T (p.Asp1724Val) c.3235A>T c.5048A>T (p.Asp1683Val) c.5204A>T (p.Asp1735Val) | |
12 | g.51806658T>A | CA384884190 | SCN8A | c.5172T>A (p.Asp1724Glu) c.3236T>A c.5049T>A (p.Asp1683Glu) c.5205T>A (p.Asp1735Glu) | |
12 | g.51806658T>C | CA480062150 | SCN8A | c.5172T>C (p.Asp1724=) c.3236T>C c.5049T>C (p.Asp1683=) c.5205T>C (p.Asp1735=) | |
12 | g.51806658T>G | CA384884191 | SCN8A | c.5172T>G (p.Asp1724Glu) c.3236T>G c.5049T>G (p.Asp1683Glu) c.5205T>G (p.Asp1735Glu) | |
12 | g.51806659A= | CA2036193480 | SCN8A | c.5173A= (p.Lys1725=) c.3237A= c.5050A= (p.Lys1684=) c.5206A= (p.Lys1736=) | |
12 | g.51806659A>C | CA384884196 | SCN8A | c.5173A>C (p.Lys1725Gln) c.3237A>C c.5050A>C (p.Lys1684Gln) c.5206A>C (p.Lys1736Gln) | |
12 | g.51806659A>G | CA384884205 | SCN8A | c.5173A>G (p.Lys1725Glu) c.3237A>G c.5050A>G (p.Lys1684Glu) c.5206A>G (p.Lys1736Glu) | |
12 | g.51806659A>T | CA384884202 | SCN8A | c.5173A>T (p.Lys1725Ter) c.3237A>T c.5050A>T (p.Lys1684Ter) c.5206A>T (p.Lys1736Ter) | dbSNP |
12 | g.51806660A>C | CA384884209 | SCN8A | c.5174A>C (p.Lys1725Thr) c.3238A>C c.5051A>C (p.Lys1684Thr) c.5207A>C (p.Lys1736Thr) | |
12 | g.51806660A>G | CA384884213 | SCN8A | c.5174A>G (p.Lys1725Arg) c.3238A>G c.5051A>G (p.Lys1684Arg) c.5207A>G (p.Lys1736Arg) | |
12 | g.51806660A>T | CA384884215 | SCN8A | c.5174A>T (p.Lys1725Met) c.3238A>T c.5051A>T (p.Lys1684Met) c.5207A>T (p.Lys1736Met) | |
12 | g.51806661G>A | CA480062159 | SCN8A | c.5175G>A (p.Lys1725=) c.3239G>A c.5052G>A (p.Lys1684=) c.5208G>A (p.Lys1736=) | |
12 | g.51806661G>C | CA384884220 | SCN8A | c.5175G>C (p.Lys1725Asn) c.3239G>C c.5052G>C (p.Lys1684Asn) c.5208G>C (p.Lys1736Asn) | |
12 | g.51806661G>T | CA384884221 | SCN8A | c.5175G>T (p.Lys1725Asn) c.3239G>T c.5052G>T (p.Lys1684Asn) c.5208G>T (p.Lys1736Asn) | |
12 | g.51806662G>A | CA384884222 | SCN8A | c.5176G>A (p.Glu1726Lys) c.3240G>A c.5053G>A (p.Glu1685Lys) c.5209G>A (p.Glu1737Lys) | |
12 | g.51806662G>C | CA384884225 | SCN8A | c.5176G>C (p.Glu1726Gln) c.3240G>C c.5053G>C (p.Glu1685Gln) c.5209G>C (p.Glu1737Gln) | gnomAD v4 |
12 | g.51806662G= | CA2036193490 | SCN8A | c.5176G= (p.Glu1726=) c.3240G= c.5053G= (p.Glu1685=) c.5209G= (p.Glu1737=) | |
12 | g.51806662G>T | CA384884231 | SCN8A | c.5176G>T (p.Glu1726Ter) c.3240G>T c.5053G>T (p.Glu1685Ter) c.5209G>T (p.Glu1737Ter) | ClinVar dbSNP |
12 | g.51806663A>C | CA384884236 | SCN8A | c.5177A>C (p.Glu1726Ala) c.3241A>C c.5054A>C (p.Glu1685Ala) c.5210A>C (p.Glu1737Ala) | |
12 | g.51806663A>G | CA384884242 | SCN8A | c.5177A>G (p.Glu1726Gly) c.3241A>G c.5054A>G (p.Glu1685Gly) c.5210A>G (p.Glu1737Gly) | |
12 | g.51806663A>T | CA384884249 | SCN8A | c.5177A>T (p.Glu1726Val) c.3241A>T c.5054A>T (p.Glu1685Val) c.5210A>T (p.Glu1737Val) | |
12 | g.51806664A>C | CA384884252 | SCN8A | c.5178A>C (p.Glu1726Asp) c.3242A>C c.5055A>C (p.Glu1685Asp) c.5211A>C (p.Glu1737Asp) | |
12 | g.51806664A>G | CA480062166 | SCN8A | c.5178A>G (p.Glu1726=) c.3242A>G c.5055A>G (p.Glu1685=) c.5211A>G (p.Glu1737=) | ClinVar dbSNP |
12 | g.51806664A>T | CA384884253 | SCN8A | c.5178A>T (p.Glu1726Asp) c.3242A>T c.5055A>T (p.Glu1685Asp) c.5211A>T (p.Glu1737Asp) | |
12 | g.51806666_51806667dup | CA947652693 | SCN8A | c.5180_5181dup (p.Pro1728ThrfsTer21) c.3244_3245dup c.5057_5058dup (p.Pro1687ThrfsTer21) c.5213_5214dup (p.Pro1739ThrfsTer21) | gnomAD v3 gnomAD v4 |
12 | g.51806665C>A | CA384884256 | SCN8A | c.5179C>A (p.His1727Asn) c.3243C>A c.5056C>A (p.His1686Asn) c.5212C>A (p.His1738Asn) | ClinVar gnomAD v4 |
12 | g.51806665C>G | CA384884266 | SCN8A | c.5179C>G (p.His1727Asp) c.3243C>G c.5056C>G (p.His1686Asp) c.5212C>G (p.His1738Asp) | |
12 | g.51806665C>T | CA384884259 | SCN8A | c.5179C>T (p.His1727Tyr) c.3243C>T c.5056C>T (p.His1686Tyr) c.5212C>T (p.His1738Tyr) | |
12 | g.51806666A>C | CA384884274 | SCN8A | c.5180A>C (p.His1727Pro) c.3244A>C c.5057A>C (p.His1686Pro) c.5213A>C (p.His1738Pro) | |
12 | g.51806666A>G | CA384884279 | SCN8A | c.5180A>G (p.His1727Arg) c.3244A>G c.5057A>G (p.His1686Arg) c.5213A>G (p.His1738Arg) | |
12 | g.51806666A>T | CA384884283 | SCN8A | c.5180A>T (p.His1727Leu) c.3244A>T c.5057A>T (p.His1686Leu) c.5213A>T (p.His1738Leu) | |
12 | g.51806667C>A | CA16043838 | SCN8A | c.5181C>A (p.His1727Gln) c.3245C>A c.5058C>A (p.His1686Gln) c.5214C>A (p.His1738Gln) | ClinVar dbSNP |
12 | g.51806667C= | CA2036193495 | SCN8A | c.5181C= (p.His1727=) c.3245C= c.5058C= (p.His1686=) c.5214C= (p.His1738=) | |
12 | g.51806667C>G | CA384884291 | SCN8A | c.5181C>G (p.His1727Gln) c.3245C>G c.5058C>G (p.His1686Gln) c.5214C>G (p.His1738Gln) | |
12 | g.51806667C>T | CA480062178 | SCN8A | c.5181C>T (p.His1727=) c.3245C>T c.5058C>T (p.His1686=) c.5214C>T (p.His1738=) | |
12 | g.51806668C>A | CA384884301 | SCN8A | c.5182C>A (p.Pro1728Thr) c.3246C>A c.5059C>A (p.Pro1687Thr) c.5215C>A (p.Pro1739Thr) | |
12 | g.51806668C>G | CA384884300 | SCN8A | c.5182C>G (p.Pro1728Ala) c.3246C>G c.5059C>G (p.Pro1687Ala) c.5215C>G (p.Pro1739Ala) | |
12 | g.51806668C>T | CA384884299 | SCN8A | c.5182C>T (p.Pro1728Ser) c.3246C>T c.5059C>T (p.Pro1687Ser) c.5215C>T (p.Pro1739Ser) | |
12 | g.51806669C>A | CA384884302 | SCN8A | c.5183C>A (p.Pro1728Gln) c.3247C>A c.5060C>A (p.Pro1687Gln) c.5216C>A (p.Pro1739Gln) | |
12 | g.51806669C>G | CA384884304 | SCN8A | c.5183C>G (p.Pro1728Arg) c.3247C>G c.5060C>G (p.Pro1687Arg) c.5216C>G (p.Pro1739Arg) | |
12 | g.51806669C>T | CA384884310 | SCN8A | c.5183C>T (p.Pro1728Leu) c.3247C>T c.5060C>T (p.Pro1687Leu) c.5216C>T (p.Pro1739Leu) | |
12 | g.51806670A>C | CA480062185 | SCN8A | c.5184A>C (p.Pro1728=) c.3248A>C c.5061A>C (p.Pro1687=) c.5217A>C (p.Pro1739=) | |
12 | g.51806670A>G | CA480062187 | SCN8A | c.5184A>G (p.Pro1728=) c.3248A>G c.5061A>G (p.Pro1687=) c.5217A>G (p.Pro1739=) | |
12 | g.51806670A>T | CA480062186 | SCN8A | c.5184A>T (p.Pro1728=) c.3248A>T c.5061A>T (p.Pro1687=) c.5217A>T (p.Pro1739=) | |
12 | g.51806671G>A | CA384884314 | SCN8A | c.5185G>A (p.Gly1729Arg) c.3249G>A c.5062G>A (p.Gly1688Arg) c.5218G>A (p.Gly1740Arg) | |
12 | g.51806671G>C | CA384884318 | SCN8A | c.5185G>C (p.Gly1729Arg) c.3249G>C c.5062G>C (p.Gly1688Arg) c.5218G>C (p.Gly1740Arg) | |
12 | g.51806671G>T | CA384884321 | SCN8A | c.5185G>T (p.Gly1729Trp) c.3249G>T c.5062G>T (p.Gly1688Trp) c.5218G>T (p.Gly1740Trp) | |
12 | g.51806672G>A | CA384884331 | SCN8A | c.5186G>A (p.Gly1729Glu) c.3250G>A c.5063G>A (p.Gly1688Glu) c.5219G>A (p.Gly1740Glu) | |
12 | g.51806672G>C | CA384884342 | SCN8A | c.5186G>C (p.Gly1729Ala) c.3250G>C c.5063G>C (p.Gly1688Ala) c.5219G>C (p.Gly1740Ala) | |
12 | g.51806672G>T | CA384884332 | SCN8A | c.5186G>T (p.Gly1729Val) c.3250G>T c.5063G>T (p.Gly1688Val) c.5219G>T (p.Gly1740Val) | |
12 | g.51806673G>A | CA480062196 | SCN8A | c.5187G>A (p.Gly1729=) c.3251G>A c.5064G>A (p.Gly1688=) c.5220G>A (p.Gly1740=) | |
12 | g.51806673G>C | CA480062198 | SCN8A | c.5187G>C (p.Gly1729=) c.3251G>C c.5064G>C (p.Gly1688=) c.5220G>C (p.Gly1740=) | |
12 | g.51806673G>T | CA480062200 | SCN8A | c.5187G>T (p.Gly1729=) c.3251G>T c.5064G>T (p.Gly1688=) c.5220G>T (p.Gly1740=) | |
12 | g.51806674A>C | CA384884348 | SCN8A | c.5188A>C (p.Ser1730Arg) c.3252A>C c.5065A>C (p.Ser1689Arg) c.5221A>C (p.Ser1741Arg) | |
12 | g.51806674A>G | CA384884349 | SCN8A | c.5188A>G (p.Ser1730Gly) c.3252A>G c.5065A>G (p.Ser1689Gly) c.5221A>G (p.Ser1741Gly) | |
12 | g.51806674A>T | CA384884350 | SCN8A | c.5188A>T (p.Ser1730Cys) c.3252A>T c.5065A>T (p.Ser1689Cys) c.5221A>T (p.Ser1741Cys) | |
12 | g.51806675G>A | CA6571896 | SCN8A | c.5189G>A (p.Ser1730Asn) c.3253G>A c.5066G>A (p.Ser1689Asn) c.5222G>A (p.Ser1741Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806675G>C | CA384884356 | SCN8A | c.5189G>C (p.Ser1730Thr) c.3253G>C c.5066G>C (p.Ser1689Thr) c.5222G>C (p.Ser1741Thr) | |
12 | g.51806675G= | CA2036193504 | SCN8A | c.5189G= (p.Ser1730=) c.3253G= c.5066G= (p.Ser1689=) c.5222G= (p.Ser1741=) | |
12 | g.51806675G>T | CA384884362 | SCN8A | c.5189G>T (p.Ser1730Ile) c.3253G>T c.5066G>T (p.Ser1689Ile) c.5222G>T (p.Ser1741Ile) | |
12 | g.51806676T>A | CA384884368 | SCN8A | c.5190T>A (p.Ser1730Arg) c.3254T>A c.5067T>A (p.Ser1689Arg) c.5223T>A (p.Ser1741Arg) | |
12 | g.51806676T>C | CA480062203 | SCN8A | c.5190T>C (p.Ser1730=) c.3254T>C c.5067T>C (p.Ser1689=) c.5223T>C (p.Ser1741=) | |
12 | g.51806676T>G | CA384884371 | SCN8A | c.5190T>G (p.Ser1730Arg) c.3254T>G c.5067T>G (p.Ser1689Arg) c.5223T>G (p.Ser1741Arg) | |
12 | g.51806677G>A | CA384884377 | SCN8A | c.5191G>A (p.Gly1731Ser) c.3255G>A c.5068G>A (p.Gly1690Ser) c.5224G>A (p.Gly1742Ser) | gnomAD v4 |
12 | g.51806677G>C | CA384884386 | SCN8A | c.5191G>C (p.Gly1731Arg) c.3255G>C c.5068G>C (p.Gly1690Arg) c.5224G>C (p.Gly1742Arg) | |
12 | g.51806677G>T | CA384884389 | SCN8A | c.5191G>T (p.Gly1731Cys) c.3255G>T c.5068G>T (p.Gly1690Cys) c.5224G>T (p.Gly1742Cys) | |
12 | g.51806678G>A | CA384884393 | SCN8A | c.5192G>A (p.Gly1731Asp) c.3256G>A c.5069G>A (p.Gly1690Asp) c.5225G>A (p.Gly1742Asp) | |
12 | g.51806678G>C | CA384884400 | SCN8A | c.5192G>C (p.Gly1731Ala) c.3256G>C c.5069G>C (p.Gly1690Ala) c.5225G>C (p.Gly1742Ala) | gnomAD v4 |
12 | g.51806678G>T | CA384884397 | SCN8A | c.5192G>T (p.Gly1731Val) c.3256G>T c.5069G>T (p.Gly1690Val) c.5225G>T (p.Gly1742Val) | |
12 | g.51806679C>A | CA480062208 | SCN8A | c.5193C>A (p.Gly1731=) c.3257C>A c.5070C>A (p.Gly1690=) c.5226C>A (p.Gly1742=) | |
12 | g.51806679C>G | CA480062210 | SCN8A | c.5193C>G (p.Gly1731=) c.3257C>G c.5070C>G (p.Gly1690=) c.5226C>G (p.Gly1742=) | |
12 | g.51806679C>T | CA480062211 | SCN8A | c.5193C>T (p.Gly1731=) c.3257C>T c.5070C>T (p.Gly1690=) c.5226C>T (p.Gly1742=) | |
12 | g.51806680T>A | CA384884405 | SCN8A | c.5194T>A (p.Phe1732Ile) c.3258T>A c.5071T>A (p.Phe1691Ile) c.5227T>A (p.Phe1743Ile) | |
12 | g.51806680T>C | CA384884409 | SCN8A | c.5194T>C (p.Phe1732Leu) c.3258T>C c.5071T>C (p.Phe1691Leu) c.5227T>C (p.Phe1743Leu) | |
12 | g.51806680T>G | CA384884412 | SCN8A | c.5194T>G (p.Phe1732Val) c.3258T>G c.5071T>G (p.Phe1691Val) c.5227T>G (p.Phe1743Val) | |
12 | g.51806681T>A | CA384884421 | SCN8A | c.5195T>A (p.Phe1732Tyr) c.3259T>A c.5072T>A (p.Phe1691Tyr) c.5228T>A (p.Phe1743Tyr) | |
12 | g.51806681T>C | CA384884423 | SCN8A | c.5195T>C (p.Phe1732Ser) c.3259T>C c.5072T>C (p.Phe1691Ser) c.5228T>C (p.Phe1743Ser) | |
12 | g.51806681T>G | CA384884426 | SCN8A | c.5195T>G (p.Phe1732Cys) c.3259T>G c.5072T>G (p.Phe1691Cys) c.5228T>G (p.Phe1743Cys) | |
12 | g.51806682T>A | CA384884433 | SCN8A | c.5196T>A (p.Phe1732Leu) c.3260T>A c.5073T>A (p.Phe1691Leu) c.5229T>A (p.Phe1743Leu) | |
12 | g.51806682T>C | CA480062218 | SCN8A | c.5196T>C (p.Phe1732=) c.3260T>C c.5073T>C (p.Phe1691=) c.5229T>C (p.Phe1743=) | |
12 | g.51806682T>G | CA384884434 | SCN8A | c.5196T>G (p.Phe1732Leu) c.3260T>G c.5073T>G (p.Phe1691Leu) c.5229T>G (p.Phe1743Leu) | gnomAD v4 |
12 | g.51806683A= | CA2036193507 | SCN8A | c.5197A= (p.Lys1733=) c.3261A= c.5074A= (p.Lys1692=) c.5230A= (p.Lys1744=) | |
12 | g.51806683A>C | CA384884435 | SCN8A | c.5197A>C (p.Lys1733Gln) c.3261A>C c.5074A>C (p.Lys1692Gln) c.5230A>C (p.Lys1744Gln) | |
12 | g.51806683A>G | CA384884436 | SCN8A | c.5197A>G (p.Lys1733Glu) c.3261A>G c.5074A>G (p.Lys1692Glu) c.5230A>G (p.Lys1744Glu) | |
12 | g.51806683A>T | CA384884439 | SCN8A | c.5197A>T (p.Lys1733Ter) c.3261A>T c.5074A>T (p.Lys1692Ter) c.5230A>T (p.Lys1744Ter) | dbSNP |
12 | g.51806684A>C | CA384884450 | SCN8A | c.5198A>C (p.Lys1733Thr) c.3262A>C c.5075A>C (p.Lys1692Thr) c.5231A>C (p.Lys1744Thr) | |
12 | g.51806684A>G | CA384884443 | SCN8A | c.5198A>G (p.Lys1733Arg) c.3262A>G c.5075A>G (p.Lys1692Arg) c.5231A>G (p.Lys1744Arg) | |
12 | g.51806684A>T | CA384884448 | SCN8A | c.5198A>T (p.Lys1733Met) c.3262A>T c.5075A>T (p.Lys1692Met) c.5231A>T (p.Lys1744Met) | |
12 | g.51806685G>A | CA480062225 | SCN8A | c.5199G>A (p.Lys1733=) c.3263G>A c.5076G>A (p.Lys1692=) c.5232G>A (p.Lys1744=) | COSMIC COSMIC |
12 | g.51806685G>C | CA384884455 | SCN8A | c.5199G>C (p.Lys1733Asn) c.3263G>C c.5076G>C (p.Lys1692Asn) c.5232G>C (p.Lys1744Asn) | dbSNP |
12 | g.51806685G= | CA2036193515 | SCN8A | c.5199G= (p.Lys1733=) c.3263G= c.5076G= (p.Lys1692=) c.5232G= (p.Lys1744=) | |
12 | g.51806685G>T | CA384884456 | SCN8A | c.5199G>T (p.Lys1733Asn) c.3263G>T c.5076G>T (p.Lys1692Asn) c.5232G>T (p.Lys1744Asn) | |
12 | g.51806686G>A | CA384884459 | SCN8A | c.5200G>A (p.Gly1734Arg) c.3264G>A c.5077G>A (p.Gly1693Arg) c.5233G>A (p.Gly1745Arg) | |
12 | g.51806686G>C | CA384884461 | SCN8A | c.5200G>C (p.Gly1734Arg) c.3264G>C c.5077G>C (p.Gly1693Arg) c.5233G>C (p.Gly1745Arg) | |
12 | g.51806686G= | CA2036193519 | SCN8A | c.5200G= (p.Gly1734=) c.3264G= c.5077G= (p.Gly1693=) c.5233G= (p.Gly1745=) | |
12 | g.51806686G>T | CA384884464 | SCN8A | c.5200G>T (p.Gly1734Ter) c.3264G>T c.5077G>T (p.Gly1693Ter) c.5233G>T (p.Gly1745Ter) | dbSNP |
12 | g.51806687G>A | CA384884472 | SCN8A | c.5201G>A (p.Gly1734Glu) c.3265G>A c.5078G>A (p.Gly1693Glu) c.5234G>A (p.Gly1745Glu) | |
12 | g.51806687G>C | CA384884474 | SCN8A | c.5201G>C (p.Gly1734Ala) c.3265G>C c.5078G>C (p.Gly1693Ala) c.5234G>C (p.Gly1745Ala) | |
12 | g.51806687G>T | CA384884477 | SCN8A | c.5201G>T (p.Gly1734Val) c.3265G>T c.5078G>T (p.Gly1693Val) c.5234G>T (p.Gly1745Val) | |
12 | g.51806688A>C | CA480062232 | SCN8A | c.5202A>C (p.Gly1734=) c.3266A>C c.5079A>C (p.Gly1693=) c.5235A>C (p.Gly1745=) | gnomAD v4 |
12 | g.51806688A>G | CA480062234 | SCN8A | c.5202A>G (p.Gly1734=) c.3266A>G c.5079A>G (p.Gly1693=) c.5235A>G (p.Gly1745=) | |
12 | g.51806688A>T | CA480062235 | SCN8A | c.5202A>T (p.Gly1734=) c.3266A>T c.5079A>T (p.Gly1693=) c.5235A>T (p.Gly1745=) | |
12 | g.51806689G>A | CA384884482 | SCN8A | c.5203G>A (p.Asp1735Asn) c.3267G>A c.5080G>A (p.Asp1694Asn) c.5236G>A (p.Asp1746Asn) | |
12 | g.51806689G>C | CA384884494 | SCN8A | c.5203G>C (p.Asp1735His) c.3267G>C c.5080G>C (p.Asp1694His) c.5236G>C (p.Asp1746His) | |
12 | g.51806689G>T | CA384884498 | SCN8A | c.5203G>T (p.Asp1735Tyr) c.3267G>T c.5080G>T (p.Asp1694Tyr) c.5236G>T (p.Asp1746Tyr) | |
12 | g.51806690A>C | CA384884506 | SCN8A | c.5204A>C (p.Asp1735Ala) c.3268A>C c.5081A>C (p.Asp1694Ala) c.5237A>C (p.Asp1746Ala) | |
12 | g.51806690A>G | CA384884509 | SCN8A | c.5204A>G (p.Asp1735Gly) c.3268A>G c.5081A>G (p.Asp1694Gly) c.5237A>G (p.Asp1746Gly) | |
12 | g.51806690A>T | CA384884504 | SCN8A | c.5204A>T (p.Asp1735Val) c.3268A>T c.5081A>T (p.Asp1694Val) c.5237A>T (p.Asp1746Val) | |
12 | g.51806691T>A | CA384884518 | SCN8A | c.5205T>A (p.Asp1735Glu) c.3269T>A c.5082T>A (p.Asp1694Glu) c.5238T>A (p.Asp1746Glu) | |
12 | g.51806691T>C | CA6571897 | SCN8A | c.5205T>C (p.Asp1735=) c.3269T>C c.5082T>C (p.Asp1694=) c.5238T>C (p.Asp1746=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806691T>G | CA384884517 | SCN8A | c.5205T>G (p.Asp1735Glu) c.3269T>G c.5082T>G (p.Asp1694Glu) c.5238T>G (p.Asp1746Glu) | |
12 | g.51806691T= | CA2036193525 | SCN8A | c.5205T= (p.Asp1735=) c.3269T= c.5082T= (p.Asp1694=) c.5238T= (p.Asp1746=) | |
12 | g.51806692T>A | CA384884520 | SCN8A | c.5206T>A (p.Cys1736Ser) c.3270T>A c.5083T>A (p.Cys1695Ser) c.5239T>A (p.Cys1747Ser) | |
12 | g.51806692T>C | CA384884524 | SCN8A | c.5206T>C (p.Cys1736Arg) c.3270T>C c.5083T>C (p.Cys1695Arg) c.5239T>C (p.Cys1747Arg) | |
12 | g.51806692T>G | CA384884527 | SCN8A | c.5206T>G (p.Cys1736Gly) c.3270T>G c.5083T>G (p.Cys1695Gly) c.5239T>G (p.Cys1747Gly) | |
12 | g.51806693G>A | CA384884533 | SCN8A | c.5207G>A (p.Cys1736Tyr) c.3271G>A c.5084G>A (p.Cys1695Tyr) c.5240G>A (p.Cys1747Tyr) | |
12 | g.51806693G>C | CA384884534 | SCN8A | c.5207G>C (p.Cys1736Ser) c.3271G>C c.5084G>C (p.Cys1695Ser) c.5240G>C (p.Cys1747Ser) | |
12 | g.51806693G= | CA2036193529 | SCN8A | c.5207G= (p.Cys1736=) c.3271G= c.5084G= (p.Cys1695=) c.5240G= (p.Cys1747=) | |
12 | g.51806693G>T | CA6571898 | SCN8A | c.5207G>T (p.Cys1736Phe) c.3271G>T c.5084G>T (p.Cys1695Phe) c.5240G>T (p.Cys1747Phe) | dbSNP ExAC gnomAD v2 |
12 | g.51806694T>A | CA384884540 | SCN8A | c.5208T>A (p.Cys1736Ter) c.3272T>A c.5085T>A (p.Cys1695Ter) c.5241T>A (p.Cys1747Ter) | dbSNP |
12 | g.51806694T>C | CA480062248 | SCN8A | c.5208T>C (p.Cys1736=) c.3272T>C c.5085T>C (p.Cys1695=) c.5241T>C (p.Cys1747=) | |
12 | g.51806694T>G | CA384884543 | SCN8A | c.5208T>G (p.Cys1736Trp) c.3272T>G c.5085T>G (p.Cys1695Trp) c.5241T>G (p.Cys1747Trp) | |
12 | g.51806694T= | CA2036193532 | SCN8A | c.5208T= (p.Cys1736=) c.3272T= c.5085T= (p.Cys1695=) c.5241T= (p.Cys1747=) | |
12 | g.51806695G>A | CA384884546 | SCN8A | c.5209G>A (p.Gly1737Arg) c.3273G>A c.5086G>A (p.Gly1696Arg) c.5242G>A (p.Gly1748Arg) | |
12 | g.51806695G>C | CA384884547 | SCN8A | c.5209G>C (p.Gly1737Arg) c.3273G>C c.5086G>C (p.Gly1696Arg) c.5242G>C (p.Gly1748Arg) | |
12 | g.51806695G>T | CA384884548 | SCN8A | c.5209G>T (p.Gly1737Trp) c.3273G>T c.5086G>T (p.Gly1696Trp) c.5242G>T (p.Gly1748Trp) | |
12 | g.51806696G>A | CA384884552 | SCN8A | c.5210G>A (p.Gly1737Glu) c.3274G>A c.5087G>A (p.Gly1696Glu) c.5243G>A (p.Gly1748Glu) | |
12 | g.51806696G>C | CA384884554 | SCN8A | c.5210G>C (p.Gly1737Ala) c.3274G>C c.5087G>C (p.Gly1696Ala) c.5243G>C (p.Gly1748Ala) | |
12 | g.51806696G>T | CA384884553 | SCN8A | c.5210G>T (p.Gly1737Val) c.3274G>T c.5087G>T (p.Gly1696Val) c.5243G>T (p.Gly1748Val) | |
12 | g.51806697G>A | CA480062255 | SCN8A | c.5211G>A (p.Gly1737=) c.3275G>A c.5088G>A (p.Gly1696=) c.5244G>A (p.Gly1748=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51806697G>C | CA480062259 | SCN8A | c.5211G>C (p.Gly1737=) c.3275G>C c.5088G>C (p.Gly1696=) c.5244G>C (p.Gly1748=) | |
12 | g.51806697G= | CA2036193535 | SCN8A | c.5211G= (p.Gly1737=) c.3275G= c.5088G= (p.Gly1696=) c.5244G= (p.Gly1748=) | |
12 | g.51806697G>T | CA480062256 | SCN8A | c.5211G>T (p.Gly1737=) c.3275G>T c.5088G>T (p.Gly1696=) c.5244G>T (p.Gly1748=) | |
12 | g.51806698A>C | CA384884555 | SCN8A | c.5212A>C (p.Asn1738His) c.3276A>C c.5089A>C (p.Asn1697His) c.5245A>C (p.Asn1749His) | |
12 | g.51806698A>G | CA384884557 | SCN8A | c.5212A>G (p.Asn1738Asp) c.3276A>G c.5089A>G (p.Asn1697Asp) c.5245A>G (p.Asn1749Asp) | |
12 | g.51806698A>T | CA384884560 | SCN8A | c.5212A>T (p.Asn1738Tyr) c.3276A>T c.5089A>T (p.Asn1697Tyr) c.5245A>T (p.Asn1749Tyr) | |
12 | g.51806699A= | CA2036193542 | SCN8A | c.5213A= (p.Asn1738=) c.3277A= c.5090A= (p.Asn1697=) c.5246A= (p.Asn1749=) | |
12 | g.51806699A>C | CA384884561 | SCN8A | c.5213A>C (p.Asn1738Thr) c.3277A>C c.5090A>C (p.Asn1697Thr) c.5246A>C (p.Asn1749Thr) | |
12 | g.51806699A>G | CA6571899 | SCN8A | c.5213A>G (p.Asn1738Ser) c.3277A>G c.5090A>G (p.Asn1697Ser) c.5246A>G (p.Asn1749Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806699A>T | CA384884564 | SCN8A | c.5213A>T (p.Asn1738Ile) c.3277A>T c.5090A>T (p.Asn1697Ile) c.5246A>T (p.Asn1749Ile) | |
12 | g.51806700C>A | CA384884567 | SCN8A | c.5214C>A (p.Asn1738Lys) c.3278C>A c.5091C>A (p.Asn1697Lys) c.5247C>A (p.Asn1749Lys) | |
12 | g.51806700C>G | CA384884568 | SCN8A | c.5214C>G (p.Asn1738Lys) c.3278C>G c.5091C>G (p.Asn1697Lys) c.5247C>G (p.Asn1749Lys) | |
12 | g.51806700C>T | CA480062267 | SCN8A | c.5214C>T (p.Asn1738=) c.3278C>T c.5091C>T (p.Asn1697=) c.5247C>T (p.Asn1749=) | |
12 | g.51806701C>A | CA384884571 | SCN8A | c.5215C>A (p.Pro1739Thr) c.3279C>A c.5092C>A (p.Pro1698Thr) c.5248C>A (p.Pro1750Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.51806701C>G | CA384884572 | SCN8A | c.5215C>G (p.Pro1739Ala) c.3279C>G c.5092C>G (p.Pro1698Ala) c.5248C>G (p.Pro1750Ala) | |
12 | g.51806701C>T | CA384884575 | SCN8A | c.5215C>T (p.Pro1739Ser) c.3279C>T c.5092C>T (p.Pro1698Ser) c.5248C>T (p.Pro1750Ser) | |
12 | g.51806702C>A | CA384884584 | SCN8A | c.5216C>A (p.Pro1739His) c.3280C>A c.5093C>A (p.Pro1698His) c.5249C>A (p.Pro1750His) | |
12 | g.51806702C>G | CA384884585 | SCN8A | c.5216C>G (p.Pro1739Arg) c.3280C>G c.5093C>G (p.Pro1698Arg) c.5249C>G (p.Pro1750Arg) | |
12 | g.51806702C>T | CA384884581 | SCN8A | c.5216C>T (p.Pro1739Leu) c.3280C>T c.5093C>T (p.Pro1698Leu) c.5249C>T (p.Pro1750Leu) | COSMIC COSMIC |
12 | g.51806703C>A | CA480062276 | SCN8A | c.5217C>A (p.Pro1739=) c.3281C>A c.5094C>A (p.Pro1698=) c.5250C>A (p.Pro1750=) | |
12 | g.51806703C>G | CA480062279 | SCN8A | c.5217C>G (p.Pro1739=) c.3281C>G c.5094C>G (p.Pro1698=) c.5250C>G (p.Pro1750=) | |
12 | g.51806703C>T | CA480062278 | SCN8A | c.5217C>T (p.Pro1739=) c.3281C>T c.5094C>T (p.Pro1698=) c.5250C>T (p.Pro1750=) | |
12 | g.51806704T>A | CA384884589 | SCN8A | c.5218T>A (p.Ser1740Thr) c.3282T>A c.5095T>A (p.Ser1699Thr) c.5251T>A (p.Ser1751Thr) | |
12 | g.51806704T>C | CA384884592 | SCN8A | c.5218T>C (p.Ser1740Pro) c.3282T>C c.5095T>C (p.Ser1699Pro) c.5251T>C (p.Ser1751Pro) | |
12 | g.51806704T>G | CA384884596 | SCN8A | c.5218T>G (p.Ser1740Ala) c.3282T>G c.5095T>G (p.Ser1699Ala) c.5251T>G (p.Ser1751Ala) | |
12 | g.51806705C>A | CA384884602 | SCN8A | c.5219C>A (p.Ser1740Ter) c.3283C>A c.5096C>A (p.Ser1699Ter) c.5252C>A (p.Ser1751Ter) | |
12 | g.51806705C>G | CA384884604 | SCN8A | c.5219C>G (p.Ser1740Ter) c.3283C>G c.5096C>G (p.Ser1699Ter) c.5252C>G (p.Ser1751Ter) | |
12 | g.51806705C>T | CA384884606 | SCN8A | c.5219C>T (p.Ser1740Leu) c.3283C>T c.5096C>T (p.Ser1699Leu) c.5252C>T (p.Ser1751Leu) | |
12 | g.51806706A= | CA2036193548 | SCN8A | c.5220A= (p.Ser1740=) c.3284A= c.5097A= (p.Ser1699=) c.5253A= (p.Ser1751=) | |
12 | g.51806706A>C | CA480061818 | SCN8A | c.5220A>C (p.Ser1740=) c.3284A>C c.5097A>C (p.Ser1699=) c.5253A>C (p.Ser1751=) | |
12 | g.51806706A>G | CA6571900 | SCN8A | c.5220A>G (p.Ser1740=) c.3284A>G c.5097A>G (p.Ser1699=) c.5253A>G (p.Ser1751=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806706A>T | CA480061820 | SCN8A | c.5220A>T (p.Ser1740=) c.3284A>T c.5097A>T (p.Ser1699=) c.5253A>T (p.Ser1751=) | |
12 | g.51806707G>A | CA384884612 | SCN8A | c.5221G>A (p.Val1741Met) c.3285G>A c.5098G>A (p.Val1700Met) c.5254G>A (p.Val1752Met) | |
12 | g.51806707G>C | CA384884614 | SCN8A | c.5221G>C (p.Val1741Leu) c.3285G>C c.5098G>C (p.Val1700Leu) c.5254G>C (p.Val1752Leu) | |
12 | g.51806707G>T | CA384884616 | SCN8A | c.5221G>T (p.Val1741Leu) c.3285G>T c.5098G>T (p.Val1700Leu) c.5254G>T (p.Val1752Leu) | |
12 | g.51806708T>A | CA384884621 | SCN8A | c.5222T>A (p.Val1741Glu) c.3286T>A c.5099T>A (p.Val1700Glu) c.5255T>A (p.Val1752Glu) | |
12 | g.51806708T>C | CA384884624 | SCN8A | c.5222T>C (p.Val1741Ala) c.3286T>C c.5099T>C (p.Val1700Ala) c.5255T>C (p.Val1752Ala) | |
12 | g.51806708T>G | CA384884626 | SCN8A | c.5222T>G (p.Val1741Gly) c.3286T>G c.5099T>G (p.Val1700Gly) c.5255T>G (p.Val1752Gly) | |
12 | g.51806709G>A | CA480061822 | SCN8A | c.5223G>A (p.Val1741=) c.3287G>A c.5100G>A (p.Val1700=) c.5256G>A (p.Val1752=) | |
12 | g.51806709G>C | CA480061823 | SCN8A | c.5223G>C (p.Val1741=) c.3287G>C c.5100G>C (p.Val1700=) c.5256G>C (p.Val1752=) | |
12 | g.51806709G>T | CA480061824 | SCN8A | c.5223G>T (p.Val1741=) c.3287G>T c.5100G>T (p.Val1700=) c.5256G>T (p.Val1752=) | |
12 | g.51806710G>A | CA384884633 | SCN8A | c.5224G>A (p.Gly1742Ser) c.3288G>A c.5101G>A (p.Gly1701Ser) c.5257G>A (p.Gly1753Ser) | |
12 | g.51806710G>C | CA384884632 | SCN8A | c.5224G>C (p.Gly1742Arg) c.3288G>C c.5101G>C (p.Gly1701Arg) c.5257G>C (p.Gly1753Arg) | COSMIC COSMIC |
12 | g.51806710G>T | CA384884629 | SCN8A | c.5224G>T (p.Gly1742Cys) c.3288G>T c.5101G>T (p.Gly1701Cys) c.5257G>T (p.Gly1753Cys) | |
12 | g.51806711G>A | CA384884634 | SCN8A | c.5225G>A (p.Gly1742Asp) c.3289G>A c.5102G>A (p.Gly1701Asp) c.5258G>A (p.Gly1753Asp) | |
12 | g.51806711G>C | CA384884637 | SCN8A | c.5225G>C (p.Gly1742Ala) c.3289G>C c.5102G>C (p.Gly1701Ala) c.5258G>C (p.Gly1753Ala) | ClinVar dbSNP |
12 | g.51806711G>T | CA384884640 | SCN8A | c.5225G>T (p.Gly1742Val) c.3289G>T c.5102G>T (p.Gly1701Val) c.5258G>T (p.Gly1753Val) | |
12 | g.51806712C>A | CA480061830 | SCN8A | c.5226C>A (p.Gly1742=) c.3290C>A c.5103C>A (p.Gly1701=) c.5259C>A (p.Gly1753=) | |
12 | g.51806712C>G | CA480061827 | SCN8A | c.5226C>G (p.Gly1742=) c.3290C>G c.5103C>G (p.Gly1701=) c.5259C>G (p.Gly1753=) | |
12 | g.51806712C>T | CA480061829 | SCN8A | c.5226C>T (p.Gly1742=) c.3290C>T c.5103C>T (p.Gly1701=) c.5259C>T (p.Gly1753=) | gnomAD v4 |
12 | g.51806713A= | CA2036193556 | SCN8A | c.5227A= (p.Ile1743=) c.3291A= c.5104A= (p.Ile1702=) c.5260A= (p.Ile1754=) | |
12 | g.51806713A>C | CA384884646 | SCN8A | c.5227A>C (p.Ile1743Leu) c.3291A>C c.5104A>C (p.Ile1702Leu) c.5260A>C (p.Ile1754Leu) | |
12 | g.51806713A>G | CA6571901 | SCN8A | c.5227A>G (p.Ile1743Val) c.3291A>G c.5104A>G (p.Ile1702Val) c.5260A>G (p.Ile1754Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806713A>T | CA384884648 | SCN8A | c.5227A>T (p.Ile1743Phe) c.3291A>T c.5104A>T (p.Ile1702Phe) c.5260A>T (p.Ile1754Phe) | |
12 | g.51806713_51806716delinsATCT | CA2036193560 | SCN8A | c.5227_5230delinsATCT (p.Ile1743=) c.3291_3294delinsATCT c.5104_5107delinsATCT (p.Ile1702=) c.5260_5263delinsATCT (p.Ile1754=) | |
12 | g.51806714T>A | CA384884651 | SCN8A | c.5228T>A (p.Ile1743Asn) c.3292T>A c.5105T>A (p.Ile1702Asn) c.5261T>A (p.Ile1754Asn) | |
12 | g.51806714T>C | CA384884662 | SCN8A | c.5228T>C (p.Ile1743Thr) c.3292T>C c.5105T>C (p.Ile1702Thr) c.5261T>C (p.Ile1754Thr) | |
12 | g.51806714T>G | CA384884665 | SCN8A | c.5228T>G (p.Ile1743Ser) c.3292T>G c.5105T>G (p.Ile1702Ser) c.5261T>G (p.Ile1754Ser) | |
12 | g.51806721_51806723del | CA605238641 | SCN8A | c.5235_5237del (p.Phe1746del) c.3299_3301del c.5112_5114del (p.Phe1705del) c.5268_5270del (p.Phe1757del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806715C>A | CA6571902 | SCN8A | c.5229C>A (p.Ile1743=) c.3293C>A c.5106C>A (p.Ile1702=) c.5262C>A (p.Ile1754=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806715C= | CA2036193575 | SCN8A | c.5229C= (p.Ile1743=) c.3293C= c.5106C= (p.Ile1702=) c.5262C= (p.Ile1754=) | |
12 | g.51806715C>G | CA384884671 | SCN8A | c.5229C>G (p.Ile1743Met) c.3293C>G c.5106C>G (p.Ile1702Met) c.5262C>G (p.Ile1754Met) | |
12 | g.51806715C>T | CA480061834 | SCN8A | c.5229C>T (p.Ile1743=) c.3293C>T c.5106C>T (p.Ile1702=) c.5262C>T (p.Ile1754=) | |
12 | g.51806716T>A | CA384884674 | SCN8A | c.5230T>A (p.Phe1744Ile) c.3294T>A c.5107T>A (p.Phe1703Ile) c.5263T>A (p.Phe1755Ile) | dbSNP gnomAD v4 |
12 | g.51806716T>C | CA384884676 | SCN8A | c.5230T>C (p.Phe1744Leu) c.3294T>C c.5107T>C (p.Phe1703Leu) c.5263T>C (p.Phe1755Leu) | |
12 | g.51806716T>G | CA384884689 | SCN8A | c.5230T>G (p.Phe1744Val) c.3294T>G c.5107T>G (p.Phe1703Val) c.5263T>G (p.Phe1755Val) | |
12 | g.51806716T= | CA2036193584 | SCN8A | c.5230T= (p.Phe1744=) c.3294T= c.5107T= (p.Phe1703=) c.5263T= (p.Phe1755=) | |
12 | g.51806717T>A | CA384884697 | SCN8A | c.5231T>A (p.Phe1744Tyr) c.3295T>A c.5108T>A (p.Phe1703Tyr) c.5264T>A (p.Phe1755Tyr) | |
12 | g.51806717T>C | CA384884694 | SCN8A | c.5231T>C (p.Phe1744Ser) c.3295T>C c.5108T>C (p.Phe1703Ser) c.5264T>C (p.Phe1755Ser) | |
12 | g.51806717T>G | CA384884692 | SCN8A | c.5231T>G (p.Phe1744Cys) c.3295T>G c.5108T>G (p.Phe1703Cys) c.5264T>G (p.Phe1755Cys) | |
12 | g.51806718C>A | CA384884702 | SCN8A | c.5232C>A (p.Phe1744Leu) c.3296C>A c.5109C>A (p.Phe1703Leu) c.5265C>A (p.Phe1755Leu) | |
12 | g.51806718C= | CA2036193587 | SCN8A | c.5232C= (p.Phe1744=) c.3296C= c.5109C= (p.Phe1703=) c.5265C= (p.Phe1755=) | |
12 | g.51806718C>G | CA384884701 | SCN8A | c.5232C>G (p.Phe1744Leu) c.3296C>G c.5109C>G (p.Phe1703Leu) c.5265C>G (p.Phe1755Leu) | |
12 | g.51806718C>T | CA480061839 | SCN8A | c.5232C>T (p.Phe1744=) c.3296C>T c.5109C>T (p.Phe1703=) c.5265C>T (p.Phe1755=) | ClinVar dbSNP |
12 | g.51806719T>A | CA384884707 | SCN8A | c.5233T>A (p.Phe1745Ile) c.3297T>A c.5110T>A (p.Phe1704Ile) c.5266T>A (p.Phe1756Ile) | |
12 | g.51806719T>C | CA384884712 | SCN8A | c.5233T>C (p.Phe1745Leu) c.3297T>C c.5110T>C (p.Phe1704Leu) c.5266T>C (p.Phe1756Leu) | |
12 | g.51806719T>G | CA384884715 | SCN8A | c.5233T>G (p.Phe1745Val) c.3297T>G c.5110T>G (p.Phe1704Val) c.5266T>G (p.Phe1756Val) | |
12 | g.51806720T>A | CA384884721 | SCN8A | c.5234T>A (p.Phe1745Tyr) c.3298T>A c.5111T>A (p.Phe1704Tyr) c.5267T>A (p.Phe1756Tyr) | |
12 | g.51806720T>C | CA384884725 | SCN8A | c.5234T>C (p.Phe1745Ser) c.3298T>C c.5111T>C (p.Phe1704Ser) c.5267T>C (p.Phe1756Ser) | |
12 | g.51806720T>G | CA384884727 | SCN8A | c.5234T>G (p.Phe1745Cys) c.3298T>G c.5111T>G (p.Phe1704Cys) c.5267T>G (p.Phe1756Cys) | |
12 | g.51806721C>A | CA384884742 | SCN8A | c.5235C>A (p.Phe1745Leu) c.3299C>A c.5112C>A (p.Phe1704Leu) c.5268C>A (p.Phe1756Leu) | |
12 | g.51806721C>G | CA384884748 | SCN8A | c.5235C>G (p.Phe1745Leu) c.3299C>G c.5112C>G (p.Phe1704Leu) c.5268C>G (p.Phe1756Leu) | gnomAD v4 |
12 | g.51806721C>T | CA480061841 | SCN8A | c.5235C>T (p.Phe1745=) c.3299C>T c.5112C>T (p.Phe1704=) c.5268C>T (p.Phe1756=) | |
12 | g.51806722T>A | CA384884750 | SCN8A | c.5236T>A (p.Phe1746Ile) c.3300T>A c.5113T>A (p.Phe1705Ile) c.5269T>A (p.Phe1757Ile) | |
12 | g.51806722T>C | CA384884753 | SCN8A | c.5236T>C (p.Phe1746Leu) c.3300T>C c.5113T>C (p.Phe1705Leu) c.5269T>C (p.Phe1757Leu) | |
12 | g.51806722T>G | CA384884772 | SCN8A | c.5236T>G (p.Phe1746Val) c.3300T>G c.5113T>G (p.Phe1705Val) c.5269T>G (p.Phe1757Val) | |
12 | g.51806723T>A | CA384884779 | SCN8A | c.5237T>A (p.Phe1746Tyr) c.3301T>A c.5114T>A (p.Phe1705Tyr) c.5270T>A (p.Phe1757Tyr) | |
12 | g.51806723T>C | CA384884784 | SCN8A | c.5237T>C (p.Phe1746Ser) c.3301T>C c.5114T>C (p.Phe1705Ser) c.5270T>C (p.Phe1757Ser) | |
12 | g.51806723T>G | CA384884788 | SCN8A | c.5237T>G (p.Phe1746Cys) c.3301T>G c.5114T>G (p.Phe1705Cys) c.5270T>G (p.Phe1757Cys) | |
12 | g.51806724T>A | CA384884797 | SCN8A | c.5238T>A (p.Phe1746Leu) c.3302T>A c.5115T>A (p.Phe1705Leu) c.5271T>A (p.Phe1757Leu) | |
12 | g.51806724T>C | CA480061846 | SCN8A | c.5238T>C (p.Phe1746=) c.3302T>C c.5115T>C (p.Phe1705=) c.5271T>C (p.Phe1757=) | |
12 | g.51806724T>G | CA384884793 | SCN8A | c.5238T>G (p.Phe1746Leu) c.3302T>G c.5115T>G (p.Phe1705Leu) c.5271T>G (p.Phe1757Leu) | |
12 | g.51806725G>A | CA384884800 | SCN8A | c.5239G>A (p.Val1747Ile) c.3303G>A c.5116G>A (p.Val1706Ile) c.5272G>A (p.Val1758Ile) | |
12 | g.51806725G>C | CA384884804 | SCN8A | c.5239G>C (p.Val1747Leu) c.3303G>C c.5116G>C (p.Val1706Leu) c.5272G>C (p.Val1758Leu) | |
12 | g.51806725G>T | CA384884806 | SCN8A | c.5239G>T (p.Val1747Leu) c.3303G>T c.5116G>T (p.Val1706Leu) c.5272G>T (p.Val1758Leu) | |
12 | g.51806726T>A | CA384884814 | SCN8A | c.5240T>A (p.Val1747Glu) c.3304T>A c.5117T>A (p.Val1706Glu) c.5273T>A (p.Val1758Glu) | |
12 | g.51806726T>C | CA384884819 | SCN8A | c.5240T>C (p.Val1747Ala) c.3304T>C c.5117T>C (p.Val1706Ala) c.5273T>C (p.Val1758Ala) | |
12 | g.51806726T>G | CA384884821 | SCN8A | c.5240T>G (p.Val1747Gly) c.3304T>G c.5117T>G (p.Val1706Gly) c.5273T>G (p.Val1758Gly) | |
12 | g.51806727A= | CA2036193595 | SCN8A | c.5241A= (p.Val1747=) c.3305A= c.5118A= (p.Val1706=) c.5274A= (p.Val1758=) | |
12 | g.51806727A>C | CA480061850 | SCN8A | c.5241A>C (p.Val1747=) c.3305A>C c.5118A>C (p.Val1706=) c.5274A>C (p.Val1758=) | |
12 | g.51806727A>G | CA480061852 | SCN8A | c.5241A>G (p.Val1747=) c.3305A>G c.5118A>G (p.Val1706=) c.5274A>G (p.Val1758=) | dbSNP gnomAD v2 |
12 | g.51806727A>T | CA480061853 | SCN8A | c.5241A>T (p.Val1747=) c.3305A>T c.5118A>T (p.Val1706=) c.5274A>T (p.Val1758=) | |
12 | g.51806728A>C | CA384884842 | SCN8A | c.5242A>C (p.Ser1748Arg) c.3306A>C c.5119A>C (p.Ser1707Arg) c.5275A>C (p.Ser1759Arg) | |
12 | g.51806728A>G | CA384884827 | SCN8A | c.5242A>G (p.Ser1748Gly) c.3306A>G c.5119A>G (p.Ser1707Gly) c.5275A>G (p.Ser1759Gly) | |
12 | g.51806728A>T | CA384884830 | SCN8A | c.5242A>T (p.Ser1748Cys) c.3306A>T c.5119A>T (p.Ser1707Cys) c.5275A>T (p.Ser1759Cys) | |
12 | g.51806729G>A | CA384884856 | SCN8A | c.5243G>A (p.Ser1748Asn) c.3307G>A c.5120G>A (p.Ser1707Asn) c.5276G>A (p.Ser1759Asn) | |
12 | g.51806729G>C | CA384884860 | SCN8A | c.5243G>C (p.Ser1748Thr) c.3307G>C c.5120G>C (p.Ser1707Thr) c.5276G>C (p.Ser1759Thr) | |
12 | g.51806729G>T | CA384884862 | SCN8A | c.5243G>T (p.Ser1748Ile) c.3307G>T c.5120G>T (p.Ser1707Ile) c.5276G>T (p.Ser1759Ile) |