Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806435C>A | CA384880650 | SCN8A | c.4949C>A (p.Ala1650Asp) c.3013C>A c.4826C>A (p.Ala1609Asp) c.4982C>A (p.Ala1661Asp) | ClinVar dbSNP |
12 | g.51806435C= | CA2036193110 | SCN8A | c.4949C= (p.Ala1650=) c.3013C= c.4826C= (p.Ala1609=) c.4982C= (p.Ala1661=) | |
12 | g.51806435C>G | CA384880651 | SCN8A | c.4949C>G (p.Ala1650Gly) c.3013C>G c.4826C>G (p.Ala1609Gly) c.4982C>G (p.Ala1661Gly) | |
12 | g.51806435C>T | CA318292 | SCN8A | c.4949C>T (p.Ala1650Val) c.3013C>T c.4826C>T (p.Ala1609Val) c.4982C>T (p.Ala1661Val) | ClinVar dbSNP |
12 | g.51806436C>A | CA479788179 | SCN8A | c.4950C>A (p.Ala1650=) c.3014C>A c.4827C>A (p.Ala1609=) c.4983C>A (p.Ala1661=) | |
12 | g.51806436C>G | CA479788180 | SCN8A | c.4950C>G (p.Ala1650=) c.3014C>G c.4827C>G (p.Ala1609=) c.4983C>G (p.Ala1661=) | |
12 | g.51806436C>T | CA479788181 | SCN8A | c.4950C>T (p.Ala1650=) c.3014C>T c.4827C>T (p.Ala1609=) c.4983C>T (p.Ala1661=) | |
12 | g.51806437C>A | CA384880655 | SCN8A | c.4951C>A (p.Leu1651Met) c.3015C>A c.4828C>A (p.Leu1610Met) c.4984C>A (p.Leu1662Met) | |
12 | g.51806437C>G | CA384880657 | SCN8A | c.4951C>G (p.Leu1651Val) c.3015C>G c.4828C>G (p.Leu1610Val) c.4984C>G (p.Leu1662Val) | |
12 | g.51806437C>T | CA479788182 | SCN8A | c.4951C>T (p.Leu1651=) c.3015C>T c.4828C>T (p.Leu1610=) c.4984C>T (p.Leu1662=) | COSMIC COSMIC |
12 | g.51806438T>A | CA384880660 | SCN8A | c.4952T>A (p.Leu1651Gln) c.3016T>A c.4829T>A (p.Leu1610Gln) c.4985T>A (p.Leu1662Gln) | |
12 | g.51806438T>C | CA384880662 | SCN8A | c.4952T>C (p.Leu1651Pro) c.3016T>C c.4829T>C (p.Leu1610Pro) c.4985T>C (p.Leu1662Pro) | |
12 | g.51806438T>G | CA384880664 | SCN8A | c.4952T>G (p.Leu1651Arg) c.3016T>G c.4829T>G (p.Leu1610Arg) c.4985T>G (p.Leu1662Arg) | |
12 | g.51806439G>A | CA479788183 | SCN8A | c.4953G>A (p.Leu1651=) c.3017G>A c.4830G>A (p.Leu1610=) c.4986G>A (p.Leu1662=) | |
12 | g.51806439G>C | CA479788184 | SCN8A | c.4953G>C (p.Leu1651=) c.3017G>C c.4830G>C (p.Leu1610=) c.4986G>C (p.Leu1662=) | |
12 | g.51806439G= | CA2036193114 | SCN8A | c.4953G= (p.Leu1651=) c.3017G= c.4830G= (p.Leu1610=) c.4986G= (p.Leu1662=) | |
12 | g.51806439G>T | CA479788185 | SCN8A | c.4953G>T (p.Leu1651=) c.3017G>T c.4830G>T (p.Leu1610=) c.4986G>T (p.Leu1662=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806440T>A | CA384880670 | SCN8A | c.4954T>A (p.Phe1652Ile) c.3018T>A c.4831T>A (p.Phe1611Ile) c.4987T>A (p.Phe1663Ile) | |
12 | g.51806440T>C | CA384880672 | SCN8A | c.4954T>C (p.Phe1652Leu) c.3018T>C c.4831T>C (p.Phe1611Leu) c.4987T>C (p.Phe1663Leu) | |
12 | g.51806440T>G | CA384880668 | SCN8A | c.4954T>G (p.Phe1652Val) c.3018T>G c.4831T>G (p.Phe1611Val) c.4987T>G (p.Phe1663Val) | |
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) |