Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806563_51806577del | CA16619565 | SCN8A | c.5077_5091del (p.Asn1693_Cys1697del) c.3141_3155del c.4954_4968del (p.Asn1652_Cys1656del) c.5110_5124del (p.Asn1704_Cys1708del) | ClinVar dbSNP |
12 | g.51806577C>A | CA384883152 | SCN8A | c.5091C>A (p.Cys1697Ter) c.3155C>A c.4968C>A (p.Cys1656Ter) c.5124C>A (p.Cys1708Ter) | dbSNP |
12 | g.51806577C= | CA2036193307 | SCN8A | c.5091C= (p.Cys1697=) c.3155C= c.4968C= (p.Cys1656=) c.5124C= (p.Cys1708=) | |
12 | g.51806577C>G | CA384883153 | SCN8A | c.5091C>G (p.Cys1697Trp) c.3155C>G c.4968C>G (p.Cys1656Trp) c.5124C>G (p.Cys1708Trp) | |
12 | g.51806577C>T | CA480061941 | SCN8A | c.5091C>T (p.Cys1697=) c.3155C>T c.4968C>T (p.Cys1656=) c.5124C>T (p.Cys1708=) | |
12 | g.51806578C>A | CA384883157 | SCN8A | c.5092C>A (p.Leu1698Met) c.3156C>A c.4969C>A (p.Leu1657Met) c.5125C>A (p.Leu1709Met) | |
12 | g.51806578C>G | CA384883162 | SCN8A | c.5092C>G (p.Leu1698Val) c.3156C>G c.4969C>G (p.Leu1657Val) c.5125C>G (p.Leu1709Val) | |
12 | g.51806578C>T | CA480061942 | SCN8A | c.5092C>T (p.Leu1698=) c.3156C>T c.4969C>T (p.Leu1657=) c.5125C>T (p.Leu1709=) | |
12 | g.51806579T>A | CA384883180 | SCN8A | c.5093T>A (p.Leu1698Gln) c.3157T>A c.4970T>A (p.Leu1657Gln) c.5126T>A (p.Leu1709Gln) | |
12 | g.51806579T>C | CA384883177 | SCN8A | c.5093T>C (p.Leu1698Pro) c.3157T>C c.4970T>C (p.Leu1657Pro) c.5126T>C (p.Leu1709Pro) | |
12 | g.51806579T>G | CA384883176 | SCN8A | c.5093T>G (p.Leu1698Arg) c.3157T>G c.4970T>G (p.Leu1657Arg) c.5126T>G (p.Leu1709Arg) | |
12 | g.51806580G>A | CA480061946 | SCN8A | c.5094G>A (p.Leu1698=) c.3158G>A c.4971G>A (p.Leu1657=) c.5127G>A (p.Leu1709=) | |
12 | g.51806580G>C | CA480061945 | SCN8A | c.5094G>C (p.Leu1698=) c.3158G>C c.4971G>C (p.Leu1657=) c.5127G>C (p.Leu1709=) | |
12 | g.51806580G>T | CA480061944 | SCN8A | c.5094G>T (p.Leu1698=) c.3158G>T c.4971G>T (p.Leu1657=) c.5127G>T (p.Leu1709=) | gnomAD v4 |
12 | g.51806581T>A | CA384883186 | SCN8A | c.5095T>A (p.Phe1699Ile) c.3159T>A c.4972T>A (p.Phe1658Ile) c.5128T>A (p.Phe1710Ile) | |
12 | g.51806581T>C | CA384883192 | SCN8A | c.5095T>C (p.Phe1699Leu) c.3159T>C c.4972T>C (p.Phe1658Leu) c.5128T>C (p.Phe1710Leu) | |
12 | g.51806581T>G | CA384883188 | SCN8A | c.5095T>G (p.Phe1699Val) c.3159T>G c.4972T>G (p.Phe1658Val) c.5128T>G (p.Phe1710Val) | |
12 | g.51806582T>A | CA384883196 | SCN8A | c.5096T>A (p.Phe1699Tyr) c.3160T>A c.4973T>A (p.Phe1658Tyr) c.5129T>A (p.Phe1710Tyr) | |
12 | g.51806582T>C | CA384883198 | SCN8A | c.5096T>C (p.Phe1699Ser) c.3160T>C c.4973T>C (p.Phe1658Ser) c.5129T>C (p.Phe1710Ser) | |
12 | g.51806582T>G | CA384883201 | SCN8A | c.5096T>G (p.Phe1699Cys) c.3160T>G c.4973T>G (p.Phe1658Cys) c.5129T>G (p.Phe1710Cys) | |
12 | g.51806583T>A | CA384883251 | SCN8A | c.5097T>A (p.Phe1699Leu) c.3161T>A c.4974T>A (p.Phe1658Leu) c.5130T>A (p.Phe1710Leu) | |
12 | g.51806583T>C | CA480061951 | SCN8A | c.5097T>C (p.Phe1699=) c.3161T>C c.4974T>C (p.Phe1658=) c.5130T>C (p.Phe1710=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806583T>G | CA384883252 | SCN8A | c.5097T>G (p.Phe1699Leu) c.3161T>G c.4974T>G (p.Phe1658Leu) c.5130T>G (p.Phe1710Leu) | |
12 | g.51806583T= | CA2036193309 | SCN8A | c.5097T= (p.Phe1699=) c.3161T= c.4974T= (p.Phe1658=) c.5130T= (p.Phe1710=) | |
12 | g.51806584C>A | CA384883257 | SCN8A | c.5098C>A (p.Gln1700Lys) c.3162C>A c.4975C>A (p.Gln1659Lys) c.5131C>A (p.Gln1711Lys) | |
12 | g.51806584C= | CA2036193311 | SCN8A | c.5098C= (p.Gln1700=) c.3162C= c.4975C= (p.Gln1659=) c.5131C= (p.Gln1711=) | |
12 | g.51806584C>G | CA384883264 | SCN8A | c.5098C>G (p.Gln1700Glu) c.3162C>G c.4975C>G (p.Gln1659Glu) c.5131C>G (p.Gln1711Glu) | |
12 | g.51806584C>T | CA384883269 | SCN8A | c.5098C>T (p.Gln1700Ter) c.3162C>T c.4975C>T (p.Gln1659Ter) c.5131C>T (p.Gln1711Ter) | dbSNP |
12 | g.51806585A>C | CA384883273 | SCN8A | c.5099A>C (p.Gln1700Pro) c.3163A>C c.4976A>C (p.Gln1659Pro) c.5132A>C (p.Gln1711Pro) | |
12 | g.51806585A>G | CA384883277 | SCN8A | c.5099A>G (p.Gln1700Arg) c.3163A>G c.4976A>G (p.Gln1659Arg) c.5132A>G (p.Gln1711Arg) | |
12 | g.51806585A>T | CA384883280 | SCN8A | c.5099A>T (p.Gln1700Leu) c.3163A>T c.4976A>T (p.Gln1659Leu) c.5132A>T (p.Gln1711Leu) | |
12 | g.51806586A>C | CA384883286 | SCN8A | c.5100A>C (p.Gln1700His) c.3164A>C c.4977A>C (p.Gln1659His) c.5133A>C (p.Gln1711His) | |
12 | g.51806586A>G | CA480061958 | SCN8A | c.5100A>G (p.Gln1700=) c.3164A>G c.4977A>G (p.Gln1659=) c.5133A>G (p.Gln1711=) | |
12 | g.51806586A>T | CA384883291 | SCN8A | c.5100A>T (p.Gln1700His) c.3164A>T c.4977A>T (p.Gln1659His) c.5133A>T (p.Gln1711His) | |
12 | g.51806587A>C | CA384883295 | SCN8A | c.5101A>C (p.Ile1701Leu) c.3165A>C c.4978A>C (p.Ile1660Leu) c.5134A>C (p.Ile1712Leu) | |
12 | g.51806587A>G | CA384883308 | SCN8A | c.5101A>G (p.Ile1701Val) c.3165A>G c.4978A>G (p.Ile1660Val) c.5134A>G (p.Ile1712Val) | |
12 | g.51806587A>T | CA384883300 | SCN8A | c.5101A>T (p.Ile1701Phe) c.3165A>T c.4978A>T (p.Ile1660Phe) c.5134A>T (p.Ile1712Phe) | |
12 | g.51806588T>A | CA384883313 | SCN8A | c.5102T>A (p.Ile1701Asn) c.3166T>A c.4979T>A (p.Ile1660Asn) c.5135T>A (p.Ile1712Asn) | |
12 | g.51806588T>C | CA384883322 | SCN8A | c.5102T>C (p.Ile1701Thr) c.3166T>C c.4979T>C (p.Ile1660Thr) c.5135T>C (p.Ile1712Thr) | |
12 | g.51806588T>G | CA384883326 | SCN8A | c.5102T>G (p.Ile1701Ser) c.3166T>G c.4979T>G (p.Ile1660Ser) c.5135T>G (p.Ile1712Ser) | |
12 | g.51806589C>A | CA480061963 | SCN8A | c.5103C>A (p.Ile1701=) c.3167C>A c.4980C>A (p.Ile1660=) c.5136C>A (p.Ile1712=) | |
12 | g.51806589C>G | CA384883335 | SCN8A | c.5103C>G (p.Ile1701Met) c.3167C>G c.4980C>G (p.Ile1660Met) c.5136C>G (p.Ile1712Met) | |
12 | g.51806589C>T | CA480061965 | SCN8A | c.5103C>T (p.Ile1701=) c.3167C>T c.4980C>T (p.Ile1660=) c.5136C>T (p.Ile1712=) | |
12 | g.51806590A>C | CA384883345 | SCN8A | c.5104A>C (p.Thr1702Pro) c.3168A>C c.4981A>C (p.Thr1661Pro) c.5137A>C (p.Thr1713Pro) | |
12 | g.51806590A>G | CA384883349 | SCN8A | c.5104A>G (p.Thr1702Ala) c.3168A>G c.4981A>G (p.Thr1661Ala) c.5137A>G (p.Thr1713Ala) | |
12 | g.51806590A>T | CA384883354 | SCN8A | c.5104A>T (p.Thr1702Ser) c.3168A>T c.4981A>T (p.Thr1661Ser) c.5137A>T (p.Thr1713Ser) | |
12 | g.51806591C>A | CA384883363 | SCN8A | c.5105C>A (p.Thr1702Lys) c.3169C>A c.4982C>A (p.Thr1661Lys) c.5138C>A (p.Thr1713Lys) | |
12 | g.51806591C= | CA2036193321 | SCN8A | c.5105C= (p.Thr1702=) c.3169C= c.4982C= (p.Thr1661=) c.5138C= (p.Thr1713=) | |
12 | g.51806591C>G | CA384883365 | SCN8A | c.5105C>G (p.Thr1702Arg) c.3169C>G c.4982C>G (p.Thr1661Arg) c.5138C>G (p.Thr1713Arg) | |
12 | g.51806591C>T | CA384883366 | SCN8A | c.5105C>T (p.Thr1702Ile) c.3169C>T c.4982C>T (p.Thr1661Ile) c.5138C>T (p.Thr1713Ile) | |
12 | g.51806592A>C | CA480061968 | SCN8A | c.5106A>C (p.Thr1702=) c.3170A>C c.4983A>C (p.Thr1661=) c.5139A>C (p.Thr1713=) | |
12 | g.51806592A>G | CA480061969 | SCN8A | c.5106A>G (p.Thr1702=) c.3170A>G c.4983A>G (p.Thr1661=) c.5139A>G (p.Thr1713=) | |
12 | g.51806592A>T | CA480061970 | SCN8A | c.5106A>T (p.Thr1702=) c.3170A>T c.4983A>T (p.Thr1661=) c.5139A>T (p.Thr1713=) | |
12 | g.51806593dup | CA2036193324 | SCN8A | c.5107dup (p.Thr1703AsnfsTer18) c.3171dup c.4984dup (p.Thr1662AsnfsTer18) c.5140dup (p.Thr1714AsnfsTer18) | dbSNP |
12 | g.51806593A>C | CA384883379 | SCN8A | c.5107A>C (p.Thr1703Pro) c.3171A>C c.4984A>C (p.Thr1662Pro) c.5140A>C (p.Thr1714Pro) | |
12 | g.51806593A>G | CA384883383 | SCN8A | c.5107A>G (p.Thr1703Ala) c.3171A>G c.4984A>G (p.Thr1662Ala) c.5140A>G (p.Thr1714Ala) | ClinVar |
12 | g.51806593A>T | CA384883374 | SCN8A | c.5107A>T (p.Thr1703Ser) c.3171A>T c.4984A>T (p.Thr1662Ser) c.5140A>T (p.Thr1714Ser) | |
12 | g.51806594C>A | CA384883388 | SCN8A | c.5108C>A (p.Thr1703Asn) c.3172C>A c.4985C>A (p.Thr1662Asn) c.5141C>A (p.Thr1714Asn) | ClinVar dbSNP |
12 | g.51806594C>G | CA384883389 | SCN8A | c.5108C>G (p.Thr1703Ser) c.3172C>G c.4985C>G (p.Thr1662Ser) c.5141C>G (p.Thr1714Ser) | |
12 | g.51806594C>T | CA384883393 | SCN8A | c.5108C>T (p.Thr1703Ile) c.3172C>T c.4985C>T (p.Thr1662Ile) c.5141C>T (p.Thr1714Ile) | |
12 | g.51806595C>A | CA480061978 | SCN8A | c.5109C>A (p.Thr1703=) c.3173C>A c.4986C>A (p.Thr1662=) c.5142C>A (p.Thr1714=) | |
12 | g.51806595C>G | CA480061980 | SCN8A | c.5109C>G (p.Thr1703=) c.3173C>G c.4986C>G (p.Thr1662=) c.5142C>G (p.Thr1714=) | |
12 | g.51806595C>T | CA480061981 | SCN8A | c.5109C>T (p.Thr1703=) c.3173C>T c.4986C>T (p.Thr1662=) c.5142C>T (p.Thr1714=) | |
12 | g.51806596T>A | CA384883405 | SCN8A | c.5110T>A (p.Ser1704Thr) c.3174T>A c.4987T>A (p.Ser1663Thr) c.5143T>A (p.Ser1715Thr) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51806596T>C | CA384883406 | SCN8A | c.5110T>C (p.Ser1704Pro) c.3174T>C c.4987T>C (p.Ser1663Pro) c.5143T>C (p.Ser1715Pro) | |
12 | g.51806596T>G | CA384883409 | SCN8A | c.5110T>G (p.Ser1704Ala) c.3174T>G c.4987T>G (p.Ser1663Ala) c.5143T>G (p.Ser1715Ala) | |
12 | g.51806597C>A | CA384883428 | SCN8A | c.5111C>A (p.Ser1704Ter) c.3175C>A c.4988C>A (p.Ser1663Ter) c.5144C>A (p.Ser1715Ter) | |
12 | g.51806597C>G | CA384883430 | SCN8A | c.5111C>G (p.Ser1704Ter) c.3175C>G c.4988C>G (p.Ser1663Ter) c.5144C>G (p.Ser1715Ter) | |
12 | g.51806597C>T | CA384883432 | SCN8A | c.5111C>T (p.Ser1704Leu) c.3175C>T c.4988C>T (p.Ser1663Leu) c.5144C>T (p.Ser1715Leu) | |
12 | g.51806598A= | CA2036193332 | SCN8A | c.5112A= (p.Ser1704=) c.3176A= c.4989A= (p.Ser1663=) c.5145A= (p.Ser1715=) | |
12 | g.51806598A>C | CA480061985 | SCN8A | c.5112A>C (p.Ser1704=) c.3176A>C c.4989A>C (p.Ser1663=) c.5145A>C (p.Ser1715=) | |
12 | g.51806598A>G | CA6571889 | SCN8A | c.5112A>G (p.Ser1704=) c.3176A>G c.4989A>G (p.Ser1663=) c.5145A>G (p.Ser1715=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806598A>T | CA480061987 | SCN8A | c.5112A>T (p.Ser1704=) c.3176A>T c.4989A>T (p.Ser1663=) c.5145A>T (p.Ser1715=) | gnomAD v4 |
12 | g.51806599G>A | CA384883442 | SCN8A | c.5113G>A (p.Ala1705Thr) c.3177G>A c.4990G>A (p.Ala1664Thr) c.5146G>A (p.Ala1716Thr) | |
12 | g.51806599G>C | CA384883443 | SCN8A | c.5113G>C (p.Ala1705Pro) c.3177G>C c.4990G>C (p.Ala1664Pro) c.5146G>C (p.Ala1716Pro) | |
12 | g.51806599G>T | CA384883444 | SCN8A | c.5113G>T (p.Ala1705Ser) c.3177G>T c.4990G>T (p.Ala1664Ser) c.5146G>T (p.Ala1716Ser) | |
12 | g.51806600C>A | CA384883458 | SCN8A | c.5114C>A (p.Ala1705Asp) c.3178C>A c.4991C>A (p.Ala1664Asp) c.5147C>A (p.Ala1716Asp) | |
12 | g.51806600C>G | CA384883454 | SCN8A | c.5114C>G (p.Ala1705Gly) c.3178C>G c.4991C>G (p.Ala1664Gly) c.5147C>G (p.Ala1716Gly) | |
12 | g.51806600C>T | CA384883451 | SCN8A | c.5114C>T (p.Ala1705Val) c.3178C>T c.4991C>T (p.Ala1664Val) c.5147C>T (p.Ala1716Val) | |
12 | g.51806601T>A | CA480061994 | SCN8A | c.5115T>A (p.Ala1705=) c.3179T>A c.4992T>A (p.Ala1664=) c.5148T>A (p.Ala1716=) | |
12 | g.51806601T>C | CA480061996 | SCN8A | c.5115T>C (p.Ala1705=) c.3179T>C c.4992T>C (p.Ala1664=) c.5148T>C (p.Ala1716=) | |
12 | g.51806601T>G | CA480061995 | SCN8A | c.5115T>G (p.Ala1705=) c.3179T>G c.4992T>G (p.Ala1664=) c.5148T>G (p.Ala1716=) | |
12 | g.51806602G>A | CA384883469 | SCN8A | c.5116G>A (p.Gly1706Ser) c.3180G>A c.4993G>A (p.Gly1665Ser) c.5149G>A (p.Gly1717Ser) | |
12 | g.51806602G>C | CA384883472 | SCN8A | c.5116G>C (p.Gly1706Arg) c.3180G>C c.4993G>C (p.Gly1665Arg) c.5149G>C (p.Gly1717Arg) | |
12 | g.51806602G>T | CA384883478 | SCN8A | c.5116G>T (p.Gly1706Cys) c.3180G>T c.4993G>T (p.Gly1665Cys) c.5149G>T (p.Gly1717Cys) | |
12 | g.51806603G>A | CA384883491 | SCN8A | c.5117G>A (p.Gly1706Asp) c.3181G>A c.4994G>A (p.Gly1665Asp) c.5150G>A (p.Gly1717Asp) | |
12 | g.51806603G>C | CA384883508 | SCN8A | c.5117G>C (p.Gly1706Ala) c.3181G>C c.4994G>C (p.Gly1665Ala) c.5150G>C (p.Gly1717Ala) | |
12 | g.51806603G>T | CA384883513 | SCN8A | c.5117G>T (p.Gly1706Val) c.3181G>T c.4994G>T (p.Gly1665Val) c.5150G>T (p.Gly1717Val) | |
12 | g.51806604T>A | CA480062001 | SCN8A | c.5118T>A (p.Gly1706=) c.3182T>A c.4995T>A (p.Gly1665=) c.5151T>A (p.Gly1717=) | |
12 | g.51806604T>C | CA6571890 | SCN8A | c.5118T>C (p.Gly1706=) c.3182T>C c.4995T>C (p.Gly1665=) c.5151T>C (p.Gly1717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806604T>G | CA480062002 | SCN8A | c.5118T>G (p.Gly1706=) c.3182T>G c.4995T>G (p.Gly1665=) c.5151T>G (p.Gly1717=) | |
12 | g.51806604T= | CA2036193335 | SCN8A | c.5118T= (p.Gly1706=) c.3182T= c.4995T= (p.Gly1665=) c.5151T= (p.Gly1717=) | |
12 | g.51806605T>A | CA384883521 | SCN8A | c.5119T>A (p.Trp1707Arg) c.3183T>A c.4996T>A (p.Trp1666Arg) c.5152T>A (p.Trp1718Arg) | |
12 | g.51806605T>C | CA384883528 | SCN8A | c.5119T>C (p.Trp1707Arg) c.3183T>C c.4996T>C (p.Trp1666Arg) c.5152T>C (p.Trp1718Arg) | |
12 | g.51806605T>G | CA384883534 | SCN8A | c.5119T>G (p.Trp1707Gly) c.3183T>G c.4996T>G (p.Trp1666Gly) c.5152T>G (p.Trp1718Gly) | |
12 | g.51806606G>A | CA384883544 | SCN8A | c.5120G>A (p.Trp1707Ter) c.3184G>A c.4997G>A (p.Trp1666Ter) c.5153G>A (p.Trp1718Ter) | |
12 | g.51806606G>C | CA384883548 | SCN8A | c.5120G>C (p.Trp1707Ser) c.3184G>C c.4997G>C (p.Trp1666Ser) c.5153G>C (p.Trp1718Ser) | |
12 | g.51806606G>T | CA384883553 | SCN8A | c.5120G>T (p.Trp1707Leu) c.3184G>T c.4997G>T (p.Trp1666Leu) c.5153G>T (p.Trp1718Leu) | |
12 | g.51806607G>A | CA384883563 | SCN8A | c.5121G>A (p.Trp1707Ter) c.3185G>A c.4998G>A (p.Trp1666Ter) c.5154G>A (p.Trp1718Ter) | dbSNP |
12 | g.51806607G>C | CA384883567 | SCN8A | c.5121G>C (p.Trp1707Cys) c.3185G>C c.4998G>C (p.Trp1666Cys) c.5154G>C (p.Trp1718Cys) | |
12 | g.51806607G= | CA2036193338 | SCN8A | c.5121G= (p.Trp1707=) c.3185G= c.4998G= (p.Trp1666=) c.5154G= (p.Trp1718=) | |
12 | g.51806607G>T | CA384883565 | SCN8A | c.5121G>T (p.Trp1707Cys) c.3185G>T c.4998G>T (p.Trp1666Cys) c.5154G>T (p.Trp1718Cys) | |
12 | g.51806608G>A | CA384883572 | SCN8A | c.5122G>A (p.Asp1708Asn) c.3186G>A c.4999G>A (p.Asp1667Asn) c.5155G>A (p.Asp1719Asn) | |
12 | g.51806608G>C | CA384883583 | SCN8A | c.5122G>C (p.Asp1708His) c.3186G>C c.4999G>C (p.Asp1667His) c.5155G>C (p.Asp1719His) | |
12 | g.51806608G>T | CA384883577 | SCN8A | c.5122G>T (p.Asp1708Tyr) c.3186G>T c.4999G>T (p.Asp1667Tyr) c.5155G>T (p.Asp1719Tyr) | |
12 | g.51806609A>C | CA384883586 | SCN8A | c.5123A>C (p.Asp1708Ala) c.3187A>C c.5000A>C (p.Asp1667Ala) c.5156A>C (p.Asp1719Ala) | |
12 | g.51806609A>G | CA384883593 | SCN8A | c.5123A>G (p.Asp1708Gly) c.3187A>G c.5000A>G (p.Asp1667Gly) c.5156A>G (p.Asp1719Gly) | |
12 | g.51806609A>T | CA384883587 | SCN8A | c.5123A>T (p.Asp1708Val) c.3187A>T c.5000A>T (p.Asp1667Val) c.5156A>T (p.Asp1719Val) | |
12 | g.51806610T>A | CA384883594 | SCN8A | c.5124T>A (p.Asp1708Glu) c.3188T>A c.5001T>A (p.Asp1667Glu) c.5157T>A (p.Asp1719Glu) | |
12 | g.51806610T>C | CA480062010 | SCN8A | c.5124T>C (p.Asp1708=) c.3188T>C c.5001T>C (p.Asp1667=) c.5157T>C (p.Asp1719=) | dbSNP |
12 | g.51806610T>G | CA384883595 | SCN8A | c.5124T>G (p.Asp1708Glu) c.3188T>G c.5001T>G (p.Asp1667Glu) c.5157T>G (p.Asp1719Glu) | |
12 | g.51806610T= | CA2036193341 | SCN8A | c.5124T= (p.Asp1708=) c.3188T= c.5001T= (p.Asp1667=) c.5157T= (p.Asp1719=) | |
12 | g.51806611G>A | CA384883597 | SCN8A | c.5125G>A (p.Gly1709Ser) c.3189G>A c.5002G>A (p.Gly1668Ser) c.5158G>A (p.Gly1720Ser) | |
12 | g.51806611G>C | CA384883607 | SCN8A | c.5125G>C (p.Gly1709Arg) c.3189G>C c.5002G>C (p.Gly1668Arg) c.5158G>C (p.Gly1720Arg) | |
12 | g.51806611G>T | CA384883602 | SCN8A | c.5125G>T (p.Gly1709Cys) c.3189G>T c.5002G>T (p.Gly1668Cys) c.5158G>T (p.Gly1720Cys) | |
12 | g.51806612G>A | CA384883617 | SCN8A | c.5126G>A (p.Gly1709Asp) c.3190G>A c.5003G>A (p.Gly1668Asp) c.5159G>A (p.Gly1720Asp) | |
12 | g.51806612G>C | CA384883638 | SCN8A | c.5126G>C (p.Gly1709Ala) c.3190G>C c.5003G>C (p.Gly1668Ala) c.5159G>C (p.Gly1720Ala) | |
12 | g.51806612G>T | CA384883644 | SCN8A | c.5126G>T (p.Gly1709Val) c.3190G>T c.5003G>T (p.Gly1668Val) c.5159G>T (p.Gly1720Val) | |
12 | g.51806613C>A | CA480062015 | SCN8A | c.5127C>A (p.Gly1709=) c.3191C>A c.5004C>A (p.Gly1668=) c.5160C>A (p.Gly1720=) | |
12 | g.51806613C>G | CA480062018 | SCN8A | c.5127C>G (p.Gly1709=) c.3191C>G c.5004C>G (p.Gly1668=) c.5160C>G (p.Gly1720=) | |
12 | g.51806613C>T | CA480062016 | SCN8A | c.5127C>T (p.Gly1709=) c.3191C>T c.5004C>T (p.Gly1668=) c.5160C>T (p.Gly1720=) | |
12 | g.51806614C>A | CA384883648 | SCN8A | c.5128C>A (p.Leu1710Met) c.3192C>A c.5005C>A (p.Leu1669Met) c.5161C>A (p.Leu1721Met) | |
12 | g.51806614C>G | CA384883653 | SCN8A | c.5128C>G (p.Leu1710Val) c.3192C>G c.5005C>G (p.Leu1669Val) c.5161C>G (p.Leu1721Val) | |
12 | g.51806614C>T | CA480062022 | SCN8A | c.5128C>T (p.Leu1710=) c.3192C>T c.5005C>T (p.Leu1669=) c.5161C>T (p.Leu1721=) | |
12 | g.51806621_51806623del | CA2580615202 | SCN8A | c.5135_5137del (p.Leu1712del) c.3199_3201del c.5012_5014del (p.Leu1671del) c.5168_5170del (p.Leu1723del) | ClinVar dbSNP |
12 | g.51806615T>A | CA384883659 | SCN8A | c.5129T>A (p.Leu1710Gln) c.3193T>A c.5006T>A (p.Leu1669Gln) c.5162T>A (p.Leu1721Gln) | COSMIC COSMIC |
12 | g.51806615T>C | CA384883661 | SCN8A | c.5129T>C (p.Leu1710Pro) c.3193T>C c.5006T>C (p.Leu1669Pro) c.5162T>C (p.Leu1721Pro) | |
12 | g.51806615T>G | CA384883662 | SCN8A | c.5129T>G (p.Leu1710Arg) c.3193T>G c.5006T>G (p.Leu1669Arg) c.5162T>G (p.Leu1721Arg) | |
12 | g.51806616G>A | CA480062023 | SCN8A | c.5130G>A (p.Leu1710=) c.3194G>A c.5007G>A (p.Leu1669=) c.5163G>A (p.Leu1721=) | gnomAD v4 |
12 | g.51806616G>C | CA480062025 | SCN8A | c.5130G>C (p.Leu1710=) c.3194G>C c.5007G>C (p.Leu1669=) c.5163G>C (p.Leu1721=) | |
12 | g.51806616G>T | CA480062026 | SCN8A | c.5130G>T (p.Leu1710=) c.3194G>T c.5007G>T (p.Leu1669=) c.5163G>T (p.Leu1721=) | |
12 | g.51806617C>A | CA384883668 | SCN8A | c.5131C>A (p.Leu1711Met) c.3195C>A c.5008C>A (p.Leu1670Met) c.5164C>A (p.Leu1722Met) | |
12 | g.51806617C= | CA2036193346 | SCN8A | c.5131C= (p.Leu1711=) c.3195C= c.5008C= (p.Leu1670=) c.5164C= (p.Leu1722=) | |
12 | g.51806617C>G | CA384883669 | SCN8A | c.5131C>G (p.Leu1711Val) c.3195C>G c.5008C>G (p.Leu1670Val) c.5164C>G (p.Leu1722Val) | |
12 | g.51806617C>T | CA480062028 | SCN8A | c.5131C>T (p.Leu1711=) c.3195C>T c.5008C>T (p.Leu1670=) c.5164C>T (p.Leu1722=) | dbSNP gnomAD v4 |
12 | g.51806618T>A | CA384883674 | SCN8A | c.5132T>A (p.Leu1711Gln) c.3196T>A c.5009T>A (p.Leu1670Gln) c.5165T>A (p.Leu1722Gln) | |
12 | g.51806618T>C | CA384883672 | SCN8A | c.5132T>C (p.Leu1711Pro) c.3196T>C c.5009T>C (p.Leu1670Pro) c.5165T>C (p.Leu1722Pro) | |
12 | g.51806618T>G | CA384883670 | SCN8A | c.5132T>G (p.Leu1711Arg) c.3196T>G c.5009T>G (p.Leu1670Arg) c.5165T>G (p.Leu1722Arg) | |
12 | g.51806619G>A | CA480062031 | SCN8A | c.5133G>A (p.Leu1711=) c.3197G>A c.5010G>A (p.Leu1670=) c.5166G>A (p.Leu1722=) | |
12 | g.51806619G>C | CA480062033 | SCN8A | c.5133G>C (p.Leu1711=) c.3197G>C c.5010G>C (p.Leu1670=) c.5166G>C (p.Leu1722=) | |
12 | g.51806619G>T | CA480062034 | SCN8A | c.5133G>T (p.Leu1711=) c.3197G>T c.5010G>T (p.Leu1670=) c.5166G>T (p.Leu1722=) | COSMIC COSMIC |
12 | g.51806620C>A | CA384883678 | SCN8A | c.5134C>A (p.Leu1712Met) c.3198C>A c.5011C>A (p.Leu1671Met) c.5167C>A (p.Leu1723Met) | dbSNP |
12 | g.51806620C= | CA2036193352 | SCN8A | c.5134C= (p.Leu1712=) c.3198C= c.5011C= (p.Leu1671=) c.5167C= (p.Leu1723=) | |
12 | g.51806620C>G | CA384883683 | SCN8A | c.5134C>G (p.Leu1712Val) c.3198C>G c.5011C>G (p.Leu1671Val) c.5167C>G (p.Leu1723Val) | |
12 | g.51806620C>T | CA480062037 | SCN8A | c.5134C>T (p.Leu1712=) c.3198C>T c.5011C>T (p.Leu1671=) c.5167C>T (p.Leu1723=) | gnomAD v4 |
12 | g.51806621T>A | CA384883688 | SCN8A | c.5135T>A (p.Leu1712Gln) c.3199T>A c.5012T>A (p.Leu1671Gln) c.5168T>A (p.Leu1723Gln) | |
12 | g.51806621T>C | CA384883690 | SCN8A | c.5135T>C (p.Leu1712Pro) c.3199T>C c.5012T>C (p.Leu1671Pro) c.5168T>C (p.Leu1723Pro) | |
12 | g.51806621T>G | CA384883694 | SCN8A | c.5135T>G (p.Leu1712Arg) c.3199T>G c.5012T>G (p.Leu1671Arg) c.5168T>G (p.Leu1723Arg) | |
12 | g.51806622G>A | CA480062045 | SCN8A | c.5136G>A (p.Leu1712=) c.3200G>A c.5013G>A (p.Leu1671=) c.5169G>A (p.Leu1723=) | |
12 | g.51806622G>C | CA480062042 | SCN8A | c.5136G>C (p.Leu1712=) c.3200G>C c.5013G>C (p.Leu1671=) c.5169G>C (p.Leu1723=) | |
12 | g.51806622G>T | CA480062041 | SCN8A | c.5136G>T (p.Leu1712=) c.3200G>T c.5013G>T (p.Leu1671=) c.5169G>T (p.Leu1723=) | |
12 | g.51806623C>A | CA384883700 | SCN8A | c.5137C>A (p.Pro1713Thr) c.3201C>A c.5014C>A (p.Pro1672Thr) c.5170C>A (p.Pro1724Thr) | |
12 | g.51806623C>G | CA384883702 | SCN8A | c.5137C>G (p.Pro1713Ala) c.3201C>G c.5014C>G (p.Pro1672Ala) c.5170C>G (p.Pro1724Ala) | |
12 | g.51806623C>T | CA384883705 | SCN8A | c.5137C>T (p.Pro1713Ser) c.3201C>T c.5014C>T (p.Pro1672Ser) c.5170C>T (p.Pro1724Ser) | |
12 | g.51806624C>A | CA384883710 | SCN8A | c.5138C>A (p.Pro1713His) c.3202C>A c.5015C>A (p.Pro1672His) c.5171C>A (p.Pro1724His) | ClinVar |
12 | g.51806624C>G | CA384883712 | SCN8A | c.5138C>G (p.Pro1713Arg) c.3202C>G c.5015C>G (p.Pro1672Arg) c.5171C>G (p.Pro1724Arg) | |
12 | g.51806624C>T | CA384883725 | SCN8A | c.5138C>T (p.Pro1713Leu) c.3202C>T c.5015C>T (p.Pro1672Leu) c.5171C>T (p.Pro1724Leu) | |
12 | g.51806625C>A | CA480062047 | SCN8A | c.5139C>A (p.Pro1713=) c.3203C>A c.5016C>A (p.Pro1672=) c.5172C>A (p.Pro1724=) | gnomAD v4 |
12 | g.51806625C>G | CA480062048 | SCN8A | c.5139C>G (p.Pro1713=) c.3203C>G c.5016C>G (p.Pro1672=) c.5172C>G (p.Pro1724=) | |
12 | g.51806625C>T | CA480062049 | SCN8A | c.5139C>T (p.Pro1713=) c.3203C>T c.5016C>T (p.Pro1672=) c.5172C>T (p.Pro1724=) | |
12 | g.51806626A>C | CA384883756 | SCN8A | c.5140A>C (p.Ile1714Leu) c.3204A>C c.5017A>C (p.Ile1673Leu) c.5173A>C (p.Ile1725Leu) | |
12 | g.51806626A>G | CA384883761 | SCN8A | c.5140A>G (p.Ile1714Val) c.3204A>G c.5017A>G (p.Ile1673Val) c.5173A>G (p.Ile1725Val) | |
12 | g.51806626A>T | CA384883732 | SCN8A | c.5140A>T (p.Ile1714Phe) c.3204A>T c.5017A>T (p.Ile1673Phe) c.5173A>T (p.Ile1725Phe) | |
12 | g.51806627T>A | CA384883766 | SCN8A | c.5141T>A (p.Ile1714Asn) c.3205T>A c.5018T>A (p.Ile1673Asn) c.5174T>A (p.Ile1725Asn) | |
12 | g.51806627T>C | CA384883769 | SCN8A | c.5141T>C (p.Ile1714Thr) c.3205T>C c.5018T>C (p.Ile1673Thr) c.5174T>C (p.Ile1725Thr) | |
12 | g.51806627T>G | CA384883773 | SCN8A | c.5141T>G (p.Ile1714Ser) c.3205T>G c.5018T>G (p.Ile1673Ser) c.5174T>G (p.Ile1725Ser) | |
12 | g.51806628C>A | CA480062056 | SCN8A | c.5142C>A (p.Ile1714=) c.3206C>A c.5019C>A (p.Ile1673=) c.5175C>A (p.Ile1725=) | |
12 | g.51806628C>G | CA384883777 | SCN8A | c.5142C>G (p.Ile1714Met) c.3206C>G c.5019C>G (p.Ile1673Met) c.5175C>G (p.Ile1725Met) | |
12 | g.51806628C>T | CA480062057 | SCN8A | c.5142C>T (p.Ile1714=) c.3206C>T c.5019C>T (p.Ile1673=) c.5175C>T (p.Ile1725=) | |
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) |