Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806526T>A | CA480061833 | SCN8A | c.5040T>A (p.Ala1680=) c.3104T>A c.4917T>A (p.Ala1639=) c.5073T>A (p.Ala1691=) | |
12 | g.51806526T>C | CA480061832 | SCN8A | c.5040T>C (p.Ala1680=) c.3104T>C c.4917T>C (p.Ala1639=) c.5073T>C (p.Ala1691=) | |
12 | g.51806526T>G | CA480061831 | SCN8A | c.5040T>G (p.Ala1680=) c.3104T>G c.4917T>G (p.Ala1639=) c.5073T>G (p.Ala1691=) | |
12 | g.51806527G>A | CA384882641 | SCN8A | c.5041G>A (p.Gly1681Ser) c.3105G>A c.4918G>A (p.Gly1640Ser) c.5074G>A (p.Gly1692Ser) | |
12 | g.51806527G>C | CA384882643 | SCN8A | c.5041G>C (p.Gly1681Arg) c.3105G>C c.4918G>C (p.Gly1640Arg) c.5074G>C (p.Gly1692Arg) | |
12 | g.51806527G>T | CA384882645 | SCN8A | c.5041G>T (p.Gly1681Cys) c.3105G>T c.4918G>T (p.Gly1640Cys) c.5074G>T (p.Gly1692Cys) | |
12 | g.51806528G>A | CA384882649 | SCN8A | c.5042G>A (p.Gly1681Asp) c.3106G>A c.4919G>A (p.Gly1640Asp) c.5075G>A (p.Gly1692Asp) | |
12 | g.51806528G>C | CA384882650 | SCN8A | c.5042G>C (p.Gly1681Ala) c.3106G>C c.4919G>C (p.Gly1640Ala) c.5075G>C (p.Gly1692Ala) | |
12 | g.51806528G>T | CA384882652 | SCN8A | c.5042G>T (p.Gly1681Val) c.3106G>T c.4919G>T (p.Gly1640Val) c.5075G>T (p.Gly1692Val) | |
12 | g.51806529T>A | CA480061835 | SCN8A | c.5043T>A (p.Gly1681=) c.3107T>A c.4920T>A (p.Gly1640=) c.5076T>A (p.Gly1692=) | |
12 | g.51806529T>C | CA480061836 | SCN8A | c.5043T>C (p.Gly1681=) c.3107T>C c.4920T>C (p.Gly1640=) c.5076T>C (p.Gly1692=) | |
12 | g.51806529T>G | CA480061838 | SCN8A | c.5043T>G (p.Gly1681=) c.3107T>G c.4920T>G (p.Gly1640=) c.5076T>G (p.Gly1692=) | |
12 | g.51806530A>C | CA384882655 | SCN8A | c.5044A>C (p.Ile1682Leu) c.3108A>C c.4921A>C (p.Ile1641Leu) c.5077A>C (p.Ile1693Leu) | |
12 | g.51806530A>G | CA384882656 | SCN8A | c.5044A>G (p.Ile1682Val) c.3108A>G c.4921A>G (p.Ile1641Val) c.5077A>G (p.Ile1693Val) | |
12 | g.51806530A>T | CA384882660 | SCN8A | c.5044A>T (p.Ile1682Phe) c.3108A>T c.4921A>T (p.Ile1641Phe) c.5077A>T (p.Ile1693Phe) | |
12 | g.51806531T>A | CA384882666 | SCN8A | c.5045T>A (p.Ile1682Asn) c.3109T>A c.4922T>A (p.Ile1641Asn) c.5078T>A (p.Ile1693Asn) | |
12 | g.51806531T>C | CA384882665 | SCN8A | c.5045T>C (p.Ile1682Thr) c.3109T>C c.4922T>C (p.Ile1641Thr) c.5078T>C (p.Ile1693Thr) | |
12 | g.51806531T>G | CA384882663 | SCN8A | c.5045T>G (p.Ile1682Ser) c.3109T>G c.4922T>G (p.Ile1641Ser) c.5078T>G (p.Ile1693Ser) | |
12 | g.51806532C>A | CA480061840 | SCN8A | c.5046C>A (p.Ile1682=) c.3110C>A c.4923C>A (p.Ile1641=) c.5079C>A (p.Ile1693=) | |
12 | g.51806532C= | CA2036193228 | SCN8A | c.5046C= (p.Ile1682=) c.3110C= c.4923C= (p.Ile1641=) c.5079C= (p.Ile1693=) | |
12 | g.51806532C>G | CA384882670 | SCN8A | c.5046C>G (p.Ile1682Met) c.3110C>G c.4923C>G (p.Ile1641Met) c.5079C>G (p.Ile1693Met) | gnomAD v4 |
12 | g.51806532C>T | CA6571887 | SCN8A | c.5046C>T (p.Ile1682=) c.3110C>T c.4923C>T (p.Ile1641=) c.5079C>T (p.Ile1693=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806533G>A | CA236327446 | SCN8A | c.5047G>A (p.Asp1683Asn) c.3111G>A c.4924G>A (p.Asp1642Asn) c.5080G>A (p.Asp1694Asn) | ClinVar dbSNP gnomAD v4 |
12 | g.51806533G>C | CA384882673 | SCN8A | c.5047G>C (p.Asp1683His) c.3111G>C c.4924G>C (p.Asp1642His) c.5080G>C (p.Asp1694His) | |
12 | g.51806533G= | CA2036193236 | SCN8A | c.5047G= (p.Asp1683=) c.3111G= c.4924G= (p.Asp1642=) c.5080G= (p.Asp1694=) | |
12 | g.51806533G>T | CA384882676 | SCN8A | c.5047G>T (p.Asp1683Tyr) c.3111G>T c.4924G>T (p.Asp1642Tyr) c.5080G>T (p.Asp1694Tyr) | |
12 | g.51806534A>C | CA384882680 | SCN8A | c.5048A>C (p.Asp1683Ala) c.3112A>C c.4925A>C (p.Asp1642Ala) c.5081A>C (p.Asp1694Ala) | |
12 | g.51806534A>G | CA384882682 | SCN8A | c.5048A>G (p.Asp1683Gly) c.3112A>G c.4925A>G (p.Asp1642Gly) c.5081A>G (p.Asp1694Gly) | |
12 | g.51806534A>T | CA384882685 | SCN8A | c.5048A>T (p.Asp1683Val) c.3112A>T c.4925A>T (p.Asp1642Val) c.5081A>T (p.Asp1694Val) | |
12 | g.51806535T>A | CA384882695 | SCN8A | c.5049T>A (p.Asp1683Glu) c.3113T>A c.4926T>A (p.Asp1642Glu) c.5082T>A (p.Asp1694Glu) | |
12 | g.51806535T>C | CA480061844 | SCN8A | c.5049T>C (p.Asp1683=) c.3113T>C c.4926T>C (p.Asp1642=) c.5082T>C (p.Asp1694=) | ClinVar dbSNP |
12 | g.51806535T>G | CA384882698 | SCN8A | c.5049T>G (p.Asp1683Glu) c.3113T>G c.4926T>G (p.Asp1642Glu) c.5082T>G (p.Asp1694Glu) | |
12 | g.51806536G>A | CA384882703 | SCN8A | c.5050G>A (p.Asp1684Asn) c.3114G>A c.4927G>A (p.Asp1643Asn) c.5083G>A (p.Asp1695Asn) | |
12 | g.51806536G>C | CA384882708 | SCN8A | c.5050G>C (p.Asp1684His) c.3114G>C c.4927G>C (p.Asp1643His) c.5083G>C (p.Asp1695His) | gnomAD v4 |
12 | g.51806536G>T | CA384882710 | SCN8A | c.5050G>T (p.Asp1684Tyr) c.3114G>T c.4927G>T (p.Asp1643Tyr) c.5083G>T (p.Asp1695Tyr) | |
12 | g.51806537A>C | CA384882713 | SCN8A | c.5051A>C (p.Asp1684Ala) c.3115A>C c.4928A>C (p.Asp1643Ala) c.5084A>C (p.Asp1695Ala) | |
12 | g.51806537A>G | CA384882711 | SCN8A | c.5051A>G (p.Asp1684Gly) c.3115A>G c.4928A>G (p.Asp1643Gly) c.5084A>G (p.Asp1695Gly) | |
12 | g.51806537A>T | CA384882712 | SCN8A | c.5051A>T (p.Asp1684Val) c.3115A>T c.4928A>T (p.Asp1643Val) c.5084A>T (p.Asp1695Val) | |
12 | g.51806538C>A | CA384882715 | SCN8A | c.5052C>A (p.Asp1684Glu) c.3116C>A c.4929C>A (p.Asp1643Glu) c.5085C>A (p.Asp1695Glu) | |
12 | g.51806538C>G | CA384882717 | SCN8A | c.5052C>G (p.Asp1684Glu) c.3116C>G c.4929C>G (p.Asp1643Glu) c.5085C>G (p.Asp1695Glu) | |
12 | g.51806538C>T | CA480061849 | SCN8A | c.5052C>T (p.Asp1684=) c.3116C>T c.4929C>T (p.Asp1643=) c.5085C>T (p.Asp1695=) | ClinVar dbSNP gnomAD v4 |
12 | g.51806539A>C | CA384882719 | SCN8A | c.5053A>C (p.Met1685Leu) c.3117A>C c.4930A>C (p.Met1644Leu) c.5086A>C (p.Met1696Leu) | |
12 | g.51806539A>G | CA384882725 | SCN8A | c.5053A>G (p.Met1685Val) c.3117A>G c.4930A>G (p.Met1644Val) c.5086A>G (p.Met1696Val) | |
12 | g.51806539A>T | CA384882729 | SCN8A | c.5053A>T (p.Met1685Leu) c.3117A>T c.4930A>T (p.Met1644Leu) c.5086A>T (p.Met1696Leu) | |
12 | g.51806540T>A | CA384882731 | SCN8A | c.5054T>A (p.Met1685Lys) c.3118T>A c.4931T>A (p.Met1644Lys) c.5087T>A (p.Met1696Lys) | |
12 | g.51806540T>C | CA384882733 | SCN8A | c.5054T>C (p.Met1685Thr) c.3118T>C c.4931T>C (p.Met1644Thr) c.5087T>C (p.Met1696Thr) | |
12 | g.51806540T>G | CA384882735 | SCN8A | c.5054T>G (p.Met1685Arg) c.3118T>G c.4931T>G (p.Met1644Arg) c.5087T>G (p.Met1696Arg) | |
12 | g.51806541G>A | CA384882742 | SCN8A | c.5055G>A (p.Met1685Ile) c.3119G>A c.4932G>A (p.Met1644Ile) c.5088G>A (p.Met1696Ile) | |
12 | g.51806541G>C | CA384882744 | SCN8A | c.5055G>C (p.Met1685Ile) c.3119G>C c.4932G>C (p.Met1644Ile) c.5088G>C (p.Met1696Ile) | |
12 | g.51806541G>T | CA384882750 | SCN8A | c.5055G>T (p.Met1685Ile) c.3119G>T c.4932G>T (p.Met1644Ile) c.5088G>T (p.Met1696Ile) | |
12 | g.51806542T>A | CA384882755 | SCN8A | c.5056T>A (p.Phe1686Ile) c.3120T>A c.4933T>A (p.Phe1645Ile) c.5089T>A (p.Phe1697Ile) | |
12 | g.51806542T>C | CA384882758 | SCN8A | c.5056T>C (p.Phe1686Leu) c.3120T>C c.4933T>C (p.Phe1645Leu) c.5089T>C (p.Phe1697Leu) | |
12 | g.51806542T>G | CA384882753 | SCN8A | c.5056T>G (p.Phe1686Val) c.3120T>G c.4933T>G (p.Phe1645Val) c.5089T>G (p.Phe1697Val) | ClinVar |
12 | g.51806543T>A | CA384882761 | SCN8A | c.5057T>A (p.Phe1686Tyr) c.3121T>A c.4934T>A (p.Phe1645Tyr) c.5090T>A (p.Phe1697Tyr) | |
12 | g.51806543T>C | CA384882763 | SCN8A | c.5057T>C (p.Phe1686Ser) c.3121T>C c.4934T>C (p.Phe1645Ser) c.5090T>C (p.Phe1697Ser) | |
12 | g.51806543T>G | CA384882766 | SCN8A | c.5057T>G (p.Phe1686Cys) c.3121T>G c.4934T>G (p.Phe1645Cys) c.5090T>G (p.Phe1697Cys) | |
12 | g.51806544C>A | CA384882770 | SCN8A | c.5058C>A (p.Phe1686Leu) c.3122C>A c.4935C>A (p.Phe1645Leu) c.5091C>A (p.Phe1697Leu) | |
12 | g.51806544C= | CA2036193239 | SCN8A | c.5058C= (p.Phe1686=) c.3122C= c.4935C= (p.Phe1645=) c.5091C= (p.Phe1697=) | |
12 | g.51806544C>G | CA384882774 | SCN8A | c.5058C>G (p.Phe1686Leu) c.3122C>G c.4935C>G (p.Phe1645Leu) c.5091C>G (p.Phe1697Leu) | |
12 | g.51806544C>T | CA236327457 | SCN8A | c.5058C>T (p.Phe1686=) c.3122C>T c.4935C>T (p.Phe1645=) c.5091C>T (p.Phe1697=) | dbSNP gnomAD v4 |
12 | g.51806545A>C | CA384882780 | SCN8A | c.5059A>C (p.Asn1687His) c.3123A>C c.4936A>C (p.Asn1646His) c.5092A>C (p.Asn1698His) | |
12 | g.51806545A>G | CA384882800 | SCN8A | c.5059A>G (p.Asn1687Asp) c.3123A>G c.4936A>G (p.Asn1646Asp) c.5092A>G (p.Asn1698Asp) | |
12 | g.51806545A>T | CA384882803 | SCN8A | c.5059A>T (p.Asn1687Tyr) c.3123A>T c.4936A>T (p.Asn1646Tyr) c.5092A>T (p.Asn1698Tyr) | |
12 | g.51806546A= | CA2036193245 | SCN8A | c.5060A= (p.Asn1687=) c.3124A= c.4937A= (p.Asn1646=) c.5093A= (p.Asn1698=) | |
12 | g.51806546A>C | CA384882805 | SCN8A | c.5060A>C (p.Asn1687Thr) c.3124A>C c.4937A>C (p.Asn1646Thr) c.5093A>C (p.Asn1698Thr) | |
12 | g.51806546A>G | CA236327459 | SCN8A | c.5060A>G (p.Asn1687Ser) c.3124A>G c.4937A>G (p.Asn1646Ser) c.5093A>G (p.Asn1698Ser) | dbSNP |
12 | g.51806546A>T | CA384882810 | SCN8A | c.5060A>T (p.Asn1687Ile) c.3124A>T c.4937A>T (p.Asn1646Ile) c.5093A>T (p.Asn1698Ile) | |
12 | g.51806547C>A | CA384882811 | SCN8A | c.5061C>A (p.Asn1687Lys) c.3125C>A c.4938C>A (p.Asn1646Lys) c.5094C>A (p.Asn1698Lys) | |
12 | g.51806547C>G | CA384882813 | SCN8A | c.5061C>G (p.Asn1687Lys) c.3125C>G c.4938C>G (p.Asn1646Lys) c.5094C>G (p.Asn1698Lys) | |
12 | g.51806547C>T | CA480061865 | SCN8A | c.5061C>T (p.Asn1687=) c.3125C>T c.4938C>T (p.Asn1646=) c.5094C>T (p.Asn1698=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806548T>A | CA384882819 | SCN8A | c.5062T>A (p.Phe1688Ile) c.3126T>A c.4939T>A (p.Phe1647Ile) c.5095T>A (p.Phe1699Ile) | |
12 | g.51806548T>C | CA384882818 | SCN8A | c.5062T>C (p.Phe1688Leu) c.3126T>C c.4939T>C (p.Phe1647Leu) c.5095T>C (p.Phe1699Leu) | |
12 | g.51806548T>G | CA384882817 | SCN8A | c.5062T>G (p.Phe1688Val) c.3126T>G c.4939T>G (p.Phe1647Val) c.5095T>G (p.Phe1699Val) | |
12 | g.51806549T>A | CA384882820 | SCN8A | c.5063T>A (p.Phe1688Tyr) c.3127T>A c.4940T>A (p.Phe1647Tyr) c.5096T>A (p.Phe1699Tyr) | dbSNP |
12 | g.51806549T>C | CA384882821 | SCN8A | c.5063T>C (p.Phe1688Ser) c.3127T>C c.4940T>C (p.Phe1647Ser) c.5096T>C (p.Phe1699Ser) | |
12 | g.51806549T>G | CA384882823 | SCN8A | c.5063T>G (p.Phe1688Cys) c.3127T>G c.4940T>G (p.Phe1647Cys) c.5096T>G (p.Phe1699Cys) | |
12 | g.51806550T>A | CA384882827 | SCN8A | c.5064T>A (p.Phe1688Leu) c.3128T>A c.4941T>A (p.Phe1647Leu) c.5097T>A (p.Phe1699Leu) | |
12 | g.51806550T>C | CA480061877 | SCN8A | c.5064T>C (p.Phe1688=) c.3128T>C c.4941T>C (p.Phe1647=) c.5097T>C (p.Phe1699=) | |
12 | g.51806550T>G | CA384882830 | SCN8A | c.5064T>G (p.Phe1688Leu) c.3128T>G c.4941T>G (p.Phe1647Leu) c.5097T>G (p.Phe1699Leu) | |
12 | g.51806551G>A | CA384882834 | SCN8A | c.5065G>A (p.Glu1689Lys) c.3129G>A c.4942G>A (p.Glu1648Lys) c.5098G>A (p.Glu1700Lys) | |
12 | g.51806551G>C | CA384882838 | SCN8A | c.5065G>C (p.Glu1689Gln) c.3129G>C c.4942G>C (p.Glu1648Gln) c.5098G>C (p.Glu1700Gln) | gnomAD v4 |
12 | g.51806551G= | CA2036193248 | SCN8A | c.5065G= (p.Glu1689=) c.3129G= c.4942G= (p.Glu1648=) c.5098G= (p.Glu1700=) | |
12 | g.51806551G>T | CA384882841 | SCN8A | c.5065G>T (p.Glu1689Ter) c.3129G>T c.4942G>T (p.Glu1648Ter) c.5098G>T (p.Glu1700Ter) | dbSNP COSMIC COSMIC |
12 | g.51806552A>C | CA384882845 | SCN8A | c.5066A>C (p.Glu1689Ala) c.3130A>C c.4943A>C (p.Glu1648Ala) c.5099A>C (p.Glu1700Ala) | ClinVar |
12 | g.51806552A>G | CA384882848 | SCN8A | c.5066A>G (p.Glu1689Gly) c.3130A>G c.4943A>G (p.Glu1648Gly) c.5099A>G (p.Glu1700Gly) | |
12 | g.51806552A>T | CA384882850 | SCN8A | c.5066A>T (p.Glu1689Val) c.3130A>T c.4943A>T (p.Glu1648Val) c.5099A>T (p.Glu1700Val) | |
12 | g.51806553G>A | CA480061885 | SCN8A | c.5067G>A (p.Glu1689=) c.3131G>A c.4944G>A (p.Glu1648=) c.5100G>A (p.Glu1700=) | |
12 | g.51806553G>C | CA384882853 | SCN8A | c.5067G>C (p.Glu1689Asp) c.3131G>C c.4944G>C (p.Glu1648Asp) c.5100G>C (p.Glu1700Asp) | |
12 | g.51806553G>T | CA384882856 | SCN8A | c.5067G>T (p.Glu1689Asp) c.3131G>T c.4944G>T (p.Glu1648Asp) c.5100G>T (p.Glu1700Asp) | |
12 | g.51806554A>C | CA384882866 | SCN8A | c.5068A>C (p.Thr1690Pro) c.3132A>C c.4945A>C (p.Thr1649Pro) c.5101A>C (p.Thr1701Pro) | |
12 | g.51806554A>G | CA384882871 | SCN8A | c.5068A>G (p.Thr1690Ala) c.3132A>G c.4945A>G (p.Thr1649Ala) c.5101A>G (p.Thr1701Ala) | |
12 | g.51806554A>T | CA384882863 | SCN8A | c.5068A>T (p.Thr1690Ser) c.3132A>T c.4945A>T (p.Thr1649Ser) c.5101A>T (p.Thr1701Ser) | |
12 | g.51806555C>A | CA384882877 | SCN8A | c.5069C>A (p.Thr1690Lys) c.3133C>A c.4946C>A (p.Thr1649Lys) c.5102C>A (p.Thr1701Lys) | |
12 | g.51806555C= | CA2036193252 | SCN8A | c.5069C= (p.Thr1690=) c.3133C= c.4946C= (p.Thr1649=) c.5102C= (p.Thr1701=) | |
12 | g.51806555C>G | CA384882874 | SCN8A | c.5069C>G (p.Thr1690Arg) c.3133C>G c.4946C>G (p.Thr1649Arg) c.5102C>G (p.Thr1701Arg) | dbSNP |
12 | g.51806555C>T | CA384882891 | SCN8A | c.5069C>T (p.Thr1690Ile) c.3133C>T c.4946C>T (p.Thr1649Ile) c.5102C>T (p.Thr1701Ile) | dbSNP gnomAD v4 |
12 | g.51806556A= | CA2036193259 | SCN8A | c.5070A= (p.Thr1690=) c.3134A= c.4947A= (p.Thr1649=) c.5103A= (p.Thr1701=) | |
12 | g.51806556A>C | CA236327463 | SCN8A | c.5070A>C (p.Thr1690=) c.3134A>C c.4947A>C (p.Thr1649=) c.5103A>C (p.Thr1701=) | dbSNP |
12 | g.51806556A>G | CA6571888 | SCN8A | c.5070A>G (p.Thr1690=) c.3134A>G c.4947A>G (p.Thr1649=) c.5103A>G (p.Thr1701=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806556A>T | CA480061900 | SCN8A | c.5070A>T (p.Thr1690=) c.3134A>T c.4947A>T (p.Thr1649=) c.5103A>T (p.Thr1701=) | |
12 | g.51806557T>A | CA384882916 | SCN8A | c.5071T>A (p.Phe1691Ile) c.3135T>A c.4948T>A (p.Phe1650Ile) c.5104T>A (p.Phe1702Ile) | |
12 | g.51806557T>C | CA384882918 | SCN8A | c.5071T>C (p.Phe1691Leu) c.3135T>C c.4948T>C (p.Phe1650Leu) c.5104T>C (p.Phe1702Leu) | |
12 | g.51806557T>G | CA384882919 | SCN8A | c.5071T>G (p.Phe1691Val) c.3135T>G c.4948T>G (p.Phe1650Val) c.5104T>G (p.Phe1702Val) | |
12 | g.51806558T>A | CA384882923 | SCN8A | c.5072T>A (p.Phe1691Tyr) c.3136T>A c.4949T>A (p.Phe1650Tyr) c.5105T>A (p.Phe1702Tyr) | dbSNP |
12 | g.51806558T>C | CA384882925 | SCN8A | c.5072T>C (p.Phe1691Ser) c.3136T>C c.4949T>C (p.Phe1650Ser) c.5105T>C (p.Phe1702Ser) | |
12 | g.51806558T>G | CA384882929 | SCN8A | c.5072T>G (p.Phe1691Cys) c.3136T>G c.4949T>G (p.Phe1650Cys) c.5105T>G (p.Phe1702Cys) | |
12 | g.51806558T= | CA2036193268 | SCN8A | c.5072T= (p.Phe1691=) c.3136T= c.4949T= (p.Phe1650=) c.5105T= (p.Phe1702=) | |
12 | g.51806559T>A | CA384882933 | SCN8A | c.5073T>A (p.Phe1691Leu) c.3137T>A c.4950T>A (p.Phe1650Leu) c.5106T>A (p.Phe1702Leu) | |
12 | g.51806559T>C | CA480061906 | SCN8A | c.5073T>C (p.Phe1691=) c.3137T>C c.4950T>C (p.Phe1650=) c.5106T>C (p.Phe1702=) | |
12 | g.51806559T>G | CA384882937 | SCN8A | c.5073T>G (p.Phe1691Leu) c.3137T>G c.4950T>G (p.Phe1650Leu) c.5106T>G (p.Phe1702Leu) | |
12 | g.51806560G>A | CA384882938 | SCN8A | c.5074G>A (p.Gly1692Ser) c.3138G>A c.4951G>A (p.Gly1651Ser) c.5107G>A (p.Gly1703Ser) | |
12 | g.51806560G>C | CA384882939 | SCN8A | c.5074G>C (p.Gly1692Arg) c.3138G>C c.4951G>C (p.Gly1651Arg) c.5107G>C (p.Gly1703Arg) | |
12 | g.51806560G>T | CA384882942 | SCN8A | c.5074G>T (p.Gly1692Cys) c.3138G>T c.4951G>T (p.Gly1651Cys) c.5107G>T (p.Gly1703Cys) | |
12 | g.51806560_51806575delinsGGCAACAGCATGATCT | CA2036193271 | SCN8A | c.5074_5089delinsGGCAACAGCATGATCT (p.Gly1692=) c.3138_3153delinsGGCAACAGCATGATCT c.4951_4966delinsGGCAACAGCATGATCT (p.Gly1651=) c.5107_5122delinsGGCAACAGCATGATCT (p.Gly1703=) | |
12 | g.51806561G>A | CA384882950 | SCN8A | c.5075G>A (p.Gly1692Asp) c.3139G>A c.4952G>A (p.Gly1651Asp) c.5108G>A (p.Gly1703Asp) | dbSNP gnomAD v4 |
12 | g.51806561G>C | CA384882945 | SCN8A | c.5075G>C (p.Gly1692Ala) c.3139G>C c.4952G>C (p.Gly1651Ala) c.5108G>C (p.Gly1703Ala) | |
12 | g.51806561G= | CA2036193274 | SCN8A | c.5075G= (p.Gly1692=) c.3139G= c.4952G= (p.Gly1651=) c.5108G= (p.Gly1703=) | |
12 | g.51806561G>T | CA384882948 | SCN8A | c.5075G>T (p.Gly1692Val) c.3139G>T c.4952G>T (p.Gly1651Val) c.5108G>T (p.Gly1703Val) | |
12 | g.51806561_51806562delinsAA | CA2580086519 | SCN8A | c.5075_5076delinsAA (p.Gly1692Glu) c.3139_3140delinsAA c.4952_4953delinsAA (p.Gly1651Glu) c.5108_5109delinsAA (p.Gly1703Glu) | ClinVar |
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.51806562C>A | CA480061913 | SCN8A | c.5076C>A (p.Gly1692=) c.3140C>A c.4953C>A (p.Gly1651=) c.5109C>A (p.Gly1703=) | dbSNP gnomAD v4 |
12 | g.51806562C= | CA2036193287 | SCN8A | c.5076C= (p.Gly1692=) c.3140C= c.4953C= (p.Gly1651=) c.5109C= (p.Gly1703=) | |
12 | g.51806562C>G | CA480061914 | SCN8A | c.5076C>G (p.Gly1692=) c.3140C>G c.4953C>G (p.Gly1651=) c.5109C>G (p.Gly1703=) | |
12 | g.51806562C>T | CA480061915 | SCN8A | c.5076C>T (p.Gly1692=) c.3140C>T c.4953C>T (p.Gly1651=) c.5109C>T (p.Gly1703=) | |
12 | g.51806563A>C | CA384882953 | SCN8A | c.5077A>C (p.Asn1693His) c.3141A>C c.4954A>C (p.Asn1652His) c.5110A>C (p.Asn1704His) | |
12 | g.51806563A>G | CA384882960 | SCN8A | c.5077A>G (p.Asn1693Asp) c.3141A>G c.4954A>G (p.Asn1652Asp) c.5110A>G (p.Asn1704Asp) | |
12 | g.51806563A>T | CA384882964 | SCN8A | c.5077A>T (p.Asn1693Tyr) c.3141A>T c.4954A>T (p.Asn1652Tyr) c.5110A>T (p.Asn1704Tyr) | |
12 | g.51806564A>C | CA384882972 | SCN8A | c.5078A>C (p.Asn1693Thr) c.3142A>C c.4955A>C (p.Asn1652Thr) c.5111A>C (p.Asn1704Thr) | |
12 | g.51806564A>G | CA384882974 | SCN8A | c.5078A>G (p.Asn1693Ser) c.3142A>G c.4955A>G (p.Asn1652Ser) c.5111A>G (p.Asn1704Ser) | |
12 | g.51806564A>T | CA384882975 | SCN8A | c.5078A>T (p.Asn1693Ile) c.3142A>T c.4955A>T (p.Asn1652Ile) c.5111A>T (p.Asn1704Ile) | |
12 | g.51806565C>A | CA384882978 | SCN8A | c.5079C>A (p.Asn1693Lys) c.3143C>A c.4956C>A (p.Asn1652Lys) c.5112C>A (p.Asn1704Lys) | |
12 | g.51806565C>G | CA384882980 | SCN8A | c.5079C>G (p.Asn1693Lys) c.3143C>G c.4956C>G (p.Asn1652Lys) c.5112C>G (p.Asn1704Lys) | gnomAD v4 |
12 | g.51806565C>T | CA480061921 | SCN8A | c.5079C>T (p.Asn1693=) c.3143C>T c.4956C>T (p.Asn1652=) c.5112C>T (p.Asn1704=) | |
12 | g.51806566A>C | CA384882984 | SCN8A | c.5080A>C (p.Ser1694Arg) c.3144A>C c.4957A>C (p.Ser1653Arg) c.5113A>C (p.Ser1705Arg) | |
12 | g.51806566A>G | CA384882985 | SCN8A | c.5080A>G (p.Ser1694Gly) c.3144A>G c.4957A>G (p.Ser1653Gly) c.5113A>G (p.Ser1705Gly) | gnomAD v4 |
12 | g.51806566A>T | CA384882986 | SCN8A | c.5080A>T (p.Ser1694Cys) c.3144A>T c.4957A>T (p.Ser1653Cys) c.5113A>T (p.Ser1705Cys) | |
12 | g.51806567G>A | CA384883003 | SCN8A | c.5081G>A (p.Ser1694Asn) c.3145G>A c.4958G>A (p.Ser1653Asn) c.5114G>A (p.Ser1705Asn) | |
12 | g.51806567G>C | CA384882991 | SCN8A | c.5081G>C (p.Ser1694Thr) c.3145G>C c.4958G>C (p.Ser1653Thr) c.5114G>C (p.Ser1705Thr) | |
12 | g.51806567G>T | CA384882988 | SCN8A | c.5081G>T (p.Ser1694Ile) c.3145G>T c.4958G>T (p.Ser1653Ile) c.5114G>T (p.Ser1705Ile) | |
12 | g.51806568C>A | CA384883008 | SCN8A | c.5082C>A (p.Ser1694Arg) c.3146C>A c.4959C>A (p.Ser1653Arg) c.5115C>A (p.Ser1705Arg) | |
12 | g.51806568C= | CA2036193294 | SCN8A | c.5082C= (p.Ser1694=) c.3146C= c.4959C= (p.Ser1653=) c.5115C= (p.Ser1705=) | |
12 | g.51806568C>G | CA384883024 | SCN8A | c.5082C>G (p.Ser1694Arg) c.3146C>G c.4959C>G (p.Ser1653Arg) c.5115C>G (p.Ser1705Arg) | |
12 | g.51806568C>T | CA480061925 | SCN8A | c.5082C>T (p.Ser1694=) c.3146C>T c.4959C>T (p.Ser1653=) c.5115C>T (p.Ser1705=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806569A= | CA2036193299 | SCN8A | c.5083A= (p.Met1695=) c.3147A= c.4960A= (p.Met1654=) c.5116A= (p.Met1706=) | |
12 | g.51806569A>C | CA384883036 | SCN8A | c.5083A>C (p.Met1695Leu) c.3147A>C c.4960A>C (p.Met1654Leu) c.5116A>C (p.Met1706Leu) | |
12 | g.51806569A>G | CA236327464 | SCN8A | c.5083A>G (p.Met1695Val) c.3147A>G c.4960A>G (p.Met1654Val) c.5116A>G (p.Met1706Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806569A>T | CA384883043 | SCN8A | c.5083A>T (p.Met1695Leu) c.3147A>T c.4960A>T (p.Met1654Leu) c.5116A>T (p.Met1706Leu) | |
12 | g.51806570T>A | CA384883055 | SCN8A | c.5084T>A (p.Met1695Lys) c.3148T>A c.4961T>A (p.Met1654Lys) c.5117T>A (p.Met1706Lys) | |
12 | g.51806570T>C | CA384883054 | SCN8A | c.5084T>C (p.Met1695Thr) c.3148T>C c.4961T>C (p.Met1654Thr) c.5117T>C (p.Met1706Thr) | ClinVar dbSNP |
12 | g.51806570T>G | CA384883045 | SCN8A | c.5084T>G (p.Met1695Arg) c.3148T>G c.4961T>G (p.Met1654Arg) c.5117T>G (p.Met1706Arg) | |
12 | g.51806571del | CA2618841539 | SCN8A | c.5085del (p.Met1695IlefsTer21) c.3149del c.4962del (p.Met1654IlefsTer21) c.5118del (p.Met1706IlefsTer21) | gnomAD v4 |
12 | g.51806571G>A | CA384883059 | SCN8A | c.5085G>A (p.Met1695Ile) c.3149G>A c.4962G>A (p.Met1654Ile) c.5118G>A (p.Met1706Ile) | |
12 | g.51806571G>C | CA384883061 | SCN8A | c.5085G>C (p.Met1695Ile) c.3149G>C c.4962G>C (p.Met1654Ile) c.5118G>C (p.Met1706Ile) | |
12 | g.51806571G>T | CA384883062 | SCN8A | c.5085G>T (p.Met1695Ile) c.3149G>T c.4962G>T (p.Met1654Ile) c.5118G>T (p.Met1706Ile) | |
12 | g.51806572A>C | CA384883069 | SCN8A | c.5086A>C (p.Ile1696Leu) c.3150A>C c.4963A>C (p.Ile1655Leu) c.5119A>C (p.Ile1707Leu) | |
12 | g.51806572A>G | CA384883077 | SCN8A | c.5086A>G (p.Ile1696Val) c.3150A>G c.4963A>G (p.Ile1655Val) c.5119A>G (p.Ile1707Val) | |
12 | g.51806572A>T | CA384883081 | SCN8A | c.5086A>T (p.Ile1696Phe) c.3150A>T c.4963A>T (p.Ile1655Phe) c.5119A>T (p.Ile1707Phe) | |
12 | g.51806573T>A | CA384883090 | SCN8A | c.5087T>A (p.Ile1696Asn) c.3151T>A c.4964T>A (p.Ile1655Asn) c.5120T>A (p.Ile1707Asn) | |
12 | g.51806573T>C | CA384883113 | SCN8A | c.5087T>C (p.Ile1696Thr) c.3151T>C c.4964T>C (p.Ile1655Thr) c.5120T>C (p.Ile1707Thr) | gnomAD v4 |
12 | g.51806573T>G | CA384883109 | SCN8A | c.5087T>G (p.Ile1696Ser) c.3151T>G c.4964T>G (p.Ile1655Ser) c.5120T>G (p.Ile1707Ser) | ClinVar gnomAD v4 |
12 | g.51806574C>A | CA480061936 | SCN8A | c.5088C>A (p.Ile1696=) c.3152C>A c.4965C>A (p.Ile1655=) c.5121C>A (p.Ile1707=) | |
12 | g.51806574C>G | CA384883120 | SCN8A | c.5088C>G (p.Ile1696Met) c.3152C>G c.4965C>G (p.Ile1655Met) c.5121C>G (p.Ile1707Met) | |
12 | g.51806574C>T | CA480061937 | SCN8A | c.5088C>T (p.Ile1696=) c.3152C>T c.4965C>T (p.Ile1655=) c.5121C>T (p.Ile1707=) | |
12 | g.51806575T>A | CA384883126 | SCN8A | c.5089T>A (p.Cys1697Ser) c.3153T>A c.4966T>A (p.Cys1656Ser) c.5122T>A (p.Cys1708Ser) | |
12 | g.51806575T>C | CA384883132 | SCN8A | c.5089T>C (p.Cys1697Arg) c.3153T>C c.4966T>C (p.Cys1656Arg) c.5122T>C (p.Cys1708Arg) | |
12 | g.51806575T>G | CA384883135 | SCN8A | c.5089T>G (p.Cys1697Gly) c.3153T>G c.4966T>G (p.Cys1656Gly) c.5122T>G (p.Cys1708Gly) | |
12 | g.51806576G>A | CA384883136 | SCN8A | c.5090G>A (p.Cys1697Tyr) c.3154G>A c.4967G>A (p.Cys1656Tyr) c.5123G>A (p.Cys1708Tyr) | |
12 | g.51806576G>C | CA384883143 | SCN8A | c.5090G>C (p.Cys1697Ser) c.3154G>C c.4967G>C (p.Cys1656Ser) c.5123G>C (p.Cys1708Ser) | |
12 | g.51806576G>T | CA384883146 | SCN8A | c.5090G>T (p.Cys1697Phe) c.3154G>T c.4967G>T (p.Cys1656Phe) c.5123G>T (p.Cys1708Phe) | |
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) |