Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806441T>A | CA384880676 | SCN8A | c.4955T>A (p.Phe1652Tyr) c.3019T>A c.4832T>A (p.Phe1611Tyr) c.4988T>A (p.Phe1663Tyr) | |
12 | g.51806441T>C | CA384880677 | SCN8A | c.4955T>C (p.Phe1652Ser) c.3019T>C c.4832T>C (p.Phe1611Ser) c.4988T>C (p.Phe1663Ser) | |
12 | g.51806441T>G | CA384880678 | SCN8A | c.4955T>G (p.Phe1652Cys) c.3019T>G c.4832T>G (p.Phe1611Cys) c.4988T>G (p.Phe1663Cys) | |
12 | g.51806442C>A | CA384880679 | SCN8A | c.4956C>A (p.Phe1652Leu) c.3020C>A c.4833C>A (p.Phe1611Leu) c.4989C>A (p.Phe1663Leu) | |
12 | g.51806442C= | CA2036193119 | SCN8A | c.4956C= (p.Phe1652=) c.3020C= c.4833C= (p.Phe1611=) c.4989C= (p.Phe1663=) | |
12 | g.51806442C>G | CA384880680 | SCN8A | c.4956C>G (p.Phe1652Leu) c.3020C>G c.4833C>G (p.Phe1611Leu) c.4989C>G (p.Phe1663Leu) | |
12 | g.51806442C>T | CA479788186 | SCN8A | c.4956C>T (p.Phe1652=) c.3020C>T c.4833C>T (p.Phe1611=) c.4989C>T (p.Phe1663=) | dbSNP gnomAD v4 |
12 | g.51806443A>C | CA384880681 | SCN8A | c.4957A>C (p.Asn1653His) c.3021A>C c.4834A>C (p.Asn1612His) c.4990A>C (p.Asn1664His) | |
12 | g.51806443A>G | CA384880682 | SCN8A | c.4957A>G (p.Asn1653Asp) c.3021A>G c.4834A>G (p.Asn1612Asp) c.4990A>G (p.Asn1664Asp) | |
12 | g.51806443A>T | CA384880684 | SCN8A | c.4957A>T (p.Asn1653Tyr) c.3021A>T c.4834A>T (p.Asn1612Tyr) c.4990A>T (p.Asn1664Tyr) | |
12 | g.51806444A>C | CA384880687 | SCN8A | c.4958A>C (p.Asn1653Thr) c.3022A>C c.4835A>C (p.Asn1612Thr) c.4991A>C (p.Asn1664Thr) | |
12 | g.51806444A>G | CA384880689 | SCN8A | c.4958A>G (p.Asn1653Ser) c.3022A>G c.4835A>G (p.Asn1612Ser) c.4991A>G (p.Asn1664Ser) | ClinVar dbSNP |
12 | g.51806444A>T | CA384880692 | SCN8A | c.4958A>T (p.Asn1653Ile) c.3022A>T c.4835A>T (p.Asn1612Ile) c.4991A>T (p.Asn1664Ile) | |
12 | g.51806445C>A | CA384880693 | SCN8A | c.4959C>A (p.Asn1653Lys) c.3023C>A c.4836C>A (p.Asn1612Lys) c.4992C>A (p.Asn1664Lys) | |
12 | g.51806445C>G | CA384880695 | SCN8A | c.4959C>G (p.Asn1653Lys) c.3023C>G c.4836C>G (p.Asn1612Lys) c.4992C>G (p.Asn1664Lys) | |
12 | g.51806445C>T | CA479788187 | SCN8A | c.4959C>T (p.Asn1653=) c.3023C>T c.4836C>T (p.Asn1612=) c.4992C>T (p.Asn1664=) | gnomAD v4 |
12 | g.51806446A>C | CA384880696 | SCN8A | c.4960A>C (p.Ile1654Leu) c.3024A>C c.4837A>C (p.Ile1613Leu) c.4993A>C (p.Ile1665Leu) | |
12 | g.51806446A>G | CA384880698 | SCN8A | c.4960A>G (p.Ile1654Val) c.3024A>G c.4837A>G (p.Ile1613Val) c.4993A>G (p.Ile1665Val) | |
12 | g.51806446A>T | CA384880697 | SCN8A | c.4960A>T (p.Ile1654Phe) c.3024A>T c.4837A>T (p.Ile1613Phe) c.4993A>T (p.Ile1665Phe) | |
12 | g.51806447T>A | CA384880702 | SCN8A | c.4961T>A (p.Ile1654Asn) c.3025T>A c.4838T>A (p.Ile1613Asn) c.4994T>A (p.Ile1665Asn) | |
12 | g.51806447T>C | CA384880703 | SCN8A | c.4961T>C (p.Ile1654Thr) c.3025T>C c.4838T>C (p.Ile1613Thr) c.4994T>C (p.Ile1665Thr) | COSMIC COSMIC |
12 | g.51806447T>G | CA384880706 | SCN8A | c.4961T>G (p.Ile1654Ser) c.3025T>G c.4838T>G (p.Ile1613Ser) c.4994T>G (p.Ile1665Ser) | |
12 | g.51806448C>A | CA480061745 | SCN8A | c.4962C>A (p.Ile1654=) c.3026C>A c.4839C>A (p.Ile1613=) c.4995C>A (p.Ile1665=) | |
12 | g.51806448C= | CA2036193124 | SCN8A | c.4962C= (p.Ile1654=) c.3026C= c.4839C= (p.Ile1613=) c.4995C= (p.Ile1665=) | |
12 | g.51806448C>G | CA384882042 | SCN8A | c.4962C>G (p.Ile1654Met) c.3026C>G c.4839C>G (p.Ile1613Met) c.4995C>G (p.Ile1665Met) | |
12 | g.51806448C>T | CA6571882 | SCN8A | c.4962C>T (p.Ile1654=) c.3026C>T c.4839C>T (p.Ile1613=) c.4995C>T (p.Ile1665=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806449G>A | CA384882049 | SCN8A | c.4963G>A (p.Gly1655Ser) c.3027G>A c.4840G>A (p.Gly1614Ser) c.4996G>A (p.Gly1666Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51806449G>C | CA384882052 | SCN8A | c.4963G>C (p.Gly1655Arg) c.3027G>C c.4840G>C (p.Gly1614Arg) c.4996G>C (p.Gly1666Arg) | |
12 | g.51806449G= | CA2036193129 | SCN8A | c.4963G= (p.Gly1655=) c.3027G= c.4840G= (p.Gly1614=) c.4996G= (p.Gly1666=) | |
12 | g.51806449G>T | CA384882054 | SCN8A | c.4963G>T (p.Gly1655Cys) c.3027G>T c.4840G>T (p.Gly1614Cys) c.4996G>T (p.Gly1666Cys) | |
12 | g.51806450G>A | CA384882059 | SCN8A | c.4964G>A (p.Gly1655Asp) c.3028G>A c.4841G>A (p.Gly1614Asp) c.4997G>A (p.Gly1666Asp) | |
12 | g.51806450G>C | CA384882060 | SCN8A | c.4964G>C (p.Gly1655Ala) c.3028G>C c.4841G>C (p.Gly1614Ala) c.4997G>C (p.Gly1666Ala) | |
12 | g.51806450G>T | CA384882064 | SCN8A | c.4964G>T (p.Gly1655Val) c.3028G>T c.4841G>T (p.Gly1614Val) c.4997G>T (p.Gly1666Val) | |
12 | g.51806451C>A | CA480061749 | SCN8A | c.4965C>A (p.Gly1655=) c.3029C>A c.4842C>A (p.Gly1614=) c.4998C>A (p.Gly1666=) | |
12 | g.51806451C>G | CA480061748 | SCN8A | c.4965C>G (p.Gly1655=) c.3029C>G c.4842C>G (p.Gly1614=) c.4998C>G (p.Gly1666=) | |
12 | g.51806451C>T | CA480061747 | SCN8A | c.4965C>T (p.Gly1655=) c.3029C>T c.4842C>T (p.Gly1614=) c.4998C>T (p.Gly1666=) | gnomAD v4 |
12 | g.51806452C>A | CA384882071 | SCN8A | c.4966C>A (p.Leu1656Ile) c.3030C>A c.4843C>A (p.Leu1615Ile) c.4999C>A (p.Leu1667Ile) | |
12 | g.51806452C= | CA2036193137 | SCN8A | c.4966C= (p.Leu1656=) c.3030C= c.4843C= (p.Leu1615=) c.4999C= (p.Leu1667=) | |
12 | g.51806452C>G | CA384882073 | SCN8A | c.4966C>G (p.Leu1656Val) c.3030C>G c.4843C>G (p.Leu1615Val) c.4999C>G (p.Leu1667Val) | |
12 | g.51806452C>T | CA384882068 | SCN8A | c.4966C>T (p.Leu1656Phe) c.3030C>T c.4843C>T (p.Leu1615Phe) c.4999C>T (p.Leu1667Phe) | ClinVar dbSNP |
12 | g.51806453T>A | CA384882076 | SCN8A | c.4967T>A (p.Leu1656His) c.3031T>A c.4844T>A (p.Leu1615His) c.5000T>A (p.Leu1667His) | |
12 | g.51806453T>C | CA384882084 | SCN8A | c.4967T>C (p.Leu1656Pro) c.3031T>C c.4844T>C (p.Leu1615Pro) c.5000T>C (p.Leu1667Pro) | |
12 | g.51806453T>G | CA384882079 | SCN8A | c.4967T>G (p.Leu1656Arg) c.3031T>G c.4844T>G (p.Leu1615Arg) c.5000T>G (p.Leu1667Arg) | |
12 | g.51806454T>A | CA480061753 | SCN8A | c.4968T>A (p.Leu1656=) c.3032T>A c.4845T>A (p.Leu1615=) c.5001T>A (p.Leu1667=) | |
12 | g.51806454T>C | CA236327434 | SCN8A | c.4968T>C (p.Leu1656=) c.3032T>C c.4845T>C (p.Leu1615=) c.5001T>C (p.Leu1667=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806454T>G | CA480061754 | SCN8A | c.4968T>G (p.Leu1656=) c.3032T>G c.4845T>G (p.Leu1615=) c.5001T>G (p.Leu1667=) | |
12 | g.51806454T= | CA2036193140 | SCN8A | c.4968T= (p.Leu1656=) c.3032T= c.4845T= (p.Leu1615=) c.5001T= (p.Leu1667=) | |
12 | g.51806455C>A | CA384882097 | SCN8A | c.4969C>A (p.Leu1657Met) c.3033C>A c.4846C>A (p.Leu1616Met) c.5002C>A (p.Leu1668Met) | |
12 | g.51806455C= | CA2036193145 | SCN8A | c.4969C= (p.Leu1657=) c.3033C= c.4846C= (p.Leu1616=) c.5002C= (p.Leu1668=) | |
12 | g.51806455C>G | CA384882090 | SCN8A | c.4969C>G (p.Leu1657Val) c.3033C>G c.4846C>G (p.Leu1616Val) c.5002C>G (p.Leu1668Val) |