Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806426C>A | CA384880610 | SCN8A | c.4940C>A (p.Ser1647Tyr) c.3004C>A c.4817C>A (p.Ser1606Tyr) c.4973C>A (p.Ser1658Tyr) | |
12 | g.51806426C>G | CA384880611 | SCN8A | c.4940C>G (p.Ser1647Cys) c.3004C>G c.4817C>G (p.Ser1606Cys) c.4973C>G (p.Ser1658Cys) | |
12 | g.51806426C>T | CA384880612 | SCN8A | c.4940C>T (p.Ser1647Phe) c.3004C>T c.4817C>T (p.Ser1606Phe) c.4973C>T (p.Ser1658Phe) | COSMIC COSMIC |
12 | g.51806427C>A | CA479788172 | SCN8A | c.4941C>A (p.Ser1647=) c.3005C>A c.4818C>A (p.Ser1606=) c.4974C>A (p.Ser1658=) | |
12 | g.51806427C= | CA2036193051 | SCN8A | c.4941C= (p.Ser1647=) c.3005C= c.4818C= (p.Ser1606=) c.4974C= (p.Ser1658=) | |
12 | g.51806427C>G | CA479788173 | SCN8A | c.4941C>G (p.Ser1647=) c.3005C>G c.4818C>G (p.Ser1606=) c.4974C>G (p.Ser1658=) | |
12 | g.51806427C>T | CA479788174 | SCN8A | c.4941C>T (p.Ser1647=) c.3005C>T c.4818C>T (p.Ser1606=) c.4974C>T (p.Ser1658=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806428T>A | CA384880613 | SCN8A | c.4942T>A (p.Leu1648Met) c.3006T>A c.4819T>A (p.Leu1607Met) c.4975T>A (p.Leu1659Met) | |
12 | g.51806428T>C | CA479788175 | SCN8A | c.4942T>C (p.Leu1648=) c.3006T>C c.4819T>C (p.Leu1607=) c.4975T>C (p.Leu1659=) | |
12 | g.51806428T>G | CA384880615 | SCN8A | c.4942T>G (p.Leu1648Val) c.3006T>G c.4819T>G (p.Leu1607Val) c.4975T>G (p.Leu1659Val) | |
12 | g.51806429T>A | CA384880618 | SCN8A | c.4943T>A (p.Leu1648Ter) c.3007T>A c.4820T>A (p.Leu1607Ter) c.4976T>A (p.Leu1659Ter) | dbSNP |
12 | g.51806429T>C | CA384880620 | SCN8A | c.4943T>C (p.Leu1648Ser) c.3007T>C c.4820T>C (p.Leu1607Ser) c.4976T>C (p.Leu1659Ser) | |
12 | g.51806429T>G | CA384880622 | SCN8A | c.4943T>G (p.Leu1648Trp) c.3007T>G c.4820T>G (p.Leu1607Trp) c.4976T>G (p.Leu1659Trp) | |
12 | g.51806429T= | CA2036193058 | SCN8A | c.4943T= (p.Leu1648=) c.3007T= c.4820T= (p.Leu1607=) c.4976T= (p.Leu1659=) | |
12 | g.51806430G>A | CA6571881 | SCN8A | c.4944G>A (p.Leu1648=) c.3008G>A c.4821G>A (p.Leu1607=) c.4977G>A (p.Leu1659=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806430G>C | CA384880625 | SCN8A | c.4944G>C (p.Leu1648Phe) c.3008G>C c.4821G>C (p.Leu1607Phe) c.4977G>C (p.Leu1659Phe) | ClinVar dbSNP |
12 | g.51806430G= | CA2036193070 | SCN8A | c.4944G= (p.Leu1648=) c.3008G= c.4821G= (p.Leu1607=) c.4977G= (p.Leu1659=) | |
12 | g.51806430G>T | CA384880628 | SCN8A | c.4944G>T (p.Leu1648Phe) c.3008G>T c.4821G>T (p.Leu1607Phe) c.4977G>T (p.Leu1659Phe) | |
12 | g.51806431C>A | CA384880634 | SCN8A | c.4945C>A (p.Pro1649Thr) c.3009C>A c.4822C>A (p.Pro1608Thr) c.4978C>A (p.Pro1660Thr) | |
12 | g.51806431C>G | CA384880633 | SCN8A | c.4945C>G (p.Pro1649Ala) c.3009C>G c.4822C>G (p.Pro1608Ala) c.4978C>G (p.Pro1660Ala) | |
12 | g.51806431C>T | CA384880630 | SCN8A | c.4945C>T (p.Pro1649Ser) c.3009C>T c.4822C>T (p.Pro1608Ser) c.4978C>T (p.Pro1660Ser) | |
12 | g.51806432C>A | CA384880637 | SCN8A | c.4946C>A (p.Pro1649His) c.3010C>A c.4823C>A (p.Pro1608His) c.4979C>A (p.Pro1660His) | ClinVar dbSNP |
12 | g.51806432C= | CA2036193084 | SCN8A | c.4946C= (p.Pro1649=) c.3010C= c.4823C= (p.Pro1608=) c.4979C= (p.Pro1660=) | |
12 | g.51806432C>G | CA384880639 | SCN8A | c.4946C>G (p.Pro1649Arg) c.3010C>G c.4823C>G (p.Pro1608Arg) c.4979C>G (p.Pro1660Arg) | |
12 | g.51806432C>T | CA384880641 | SCN8A | c.4946C>T (p.Pro1649Leu) c.3010C>T c.4823C>T (p.Pro1608Leu) c.4979C>T (p.Pro1660Leu) | |
12 | g.51806433T>A | CA479788176 | SCN8A | c.4947T>A (p.Pro1649=) c.3011T>A c.4824T>A (p.Pro1608=) c.4980T>A (p.Pro1660=) | |
12 | g.51806433T>C | CA479788177 | SCN8A | c.4947T>C (p.Pro1649=) c.3011T>C c.4824T>C (p.Pro1608=) c.4980T>C (p.Pro1660=) | |
12 | g.51806433T>G | CA479788178 | SCN8A | c.4947T>G (p.Pro1649=) c.3011T>G c.4824T>G (p.Pro1608=) c.4980T>G (p.Pro1660=) | |
12 | g.51806434G>A | CA10586299 | SCN8A | c.4948G>A (p.Ala1650Thr) c.3012G>A c.4825G>A (p.Ala1609Thr) c.4981G>A (p.Ala1661Thr) | ClinVar dbSNP |
12 | g.51806434G>C | CA384880645 | SCN8A | c.4948G>C (p.Ala1650Pro) c.3012G>C c.4825G>C (p.Ala1609Pro) c.4981G>C (p.Ala1661Pro) | ClinVar |
12 | g.51806434G= | CA2036193098 | SCN8A | c.4948G= (p.Ala1650=) c.3012G= c.4825G= (p.Ala1609=) c.4981G= (p.Ala1661=) | |
12 | g.51806434G>T | CA384880647 | SCN8A | c.4948G>T (p.Ala1650Ser) c.3012G>T c.4825G>T (p.Ala1609Ser) c.4981G>T (p.Ala1661Ser) | ClinVar dbSNP |
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) |