Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806422A= | CA2036193043 | SCN8A | c.4936A= (p.Met1646=) c.3000A= c.4813A= (p.Met1605=) c.4969A= (p.Met1657=) | |
12 | g.51806422A>C | CA384880586 | SCN8A | c.4936A>C (p.Met1646Leu) c.3000A>C c.4813A>C (p.Met1605Leu) c.4969A>C (p.Met1657Leu) | |
12 | g.51806422A>G | CA384880588 | SCN8A | c.4936A>G (p.Met1646Val) c.3000A>G c.4813A>G (p.Met1605Val) c.4969A>G (p.Met1657Val) | |
12 | g.51806422A>T | CA318290 | SCN8A | c.4936A>T (p.Met1646Leu) c.3000A>T c.4813A>T (p.Met1605Leu) c.4969A>T (p.Met1657Leu) | ClinVar dbSNP |
12 | g.51806423T>A | CA384880592 | SCN8A | c.4937T>A (p.Met1646Lys) c.3001T>A c.4814T>A (p.Met1605Lys) c.4970T>A (p.Met1657Lys) | |
12 | g.51806423T>C | CA384880594 | SCN8A | c.4937T>C (p.Met1646Thr) c.3001T>C c.4814T>C (p.Met1605Thr) c.4970T>C (p.Met1657Thr) | ClinVar dbSNP |
12 | g.51806423T>G | CA384880596 | SCN8A | c.4937T>G (p.Met1646Arg) c.3001T>G c.4814T>G (p.Met1605Arg) c.4970T>G (p.Met1657Arg) | |
12 | g.51806424G>A | CA384880603 | SCN8A | c.4938G>A (p.Met1646Ile) c.3002G>A c.4815G>A (p.Met1605Ile) c.4971G>A (p.Met1657Ile) | |
12 | g.51806424G>C | CA384880601 | SCN8A | c.4938G>C (p.Met1646Ile) c.3002G>C c.4815G>C (p.Met1605Ile) c.4971G>C (p.Met1657Ile) | |
12 | g.51806424G>T | CA384880599 | SCN8A | c.4938G>T (p.Met1646Ile) c.3002G>T c.4815G>T (p.Met1605Ile) c.4971G>T (p.Met1657Ile) | |
12 | g.51806425T>A | CA384880609 | SCN8A | c.4939T>A (p.Ser1647Thr) c.3003T>A c.4816T>A (p.Ser1606Thr) c.4972T>A (p.Ser1658Thr) | |
12 | g.51806425T>C | CA384880606 | SCN8A | c.4939T>C (p.Ser1647Pro) c.3003T>C c.4816T>C (p.Ser1606Pro) c.4972T>C (p.Ser1658Pro) | |
12 | g.51806425T>G | CA384880608 | SCN8A | c.4939T>G (p.Ser1647Ala) c.3003T>G c.4816T>G (p.Ser1606Ala) c.4972T>G (p.Ser1658Ala) | |
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) | |
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=) |