Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806381A>C | CA384880460 | SCN8A | c.4895A>C (p.Lys1632Thr) c.2959A>C c.4772A>C (p.Lys1591Thr) c.4928A>C (p.Lys1643Thr) | |
12 | g.51806381A>G | CA384880461 | SCN8A | c.4895A>G (p.Lys1632Arg) c.2959A>G c.4772A>G (p.Lys1591Arg) c.4928A>G (p.Lys1643Arg) | gnomAD v4 |
12 | g.51806381A>T | CA384880459 | SCN8A | c.4895A>T (p.Lys1632Ile) c.2959A>T c.4772A>T (p.Lys1591Ile) c.4928A>T (p.Lys1643Ile) | |
12 | g.51806382A>C | CA384880462 | SCN8A | c.4896A>C (p.Lys1632Asn) c.2960A>C c.4773A>C (p.Lys1591Asn) c.4929A>C (p.Lys1643Asn) | |
12 | g.51806382A>G | CA479788114 | SCN8A | c.4896A>G (p.Lys1632=) c.2960A>G c.4773A>G (p.Lys1591=) c.4929A>G (p.Lys1643=) | |
12 | g.51806382A>T | CA384880463 | SCN8A | c.4896A>T (p.Lys1632Asn) c.2960A>T c.4773A>T (p.Lys1591Asn) c.4929A>T (p.Lys1643Asn) | ClinVar |
12 | g.51806383G>A | CA384880464 | SCN8A | c.4897G>A (p.Gly1633Ser) c.2961G>A c.4774G>A (p.Gly1592Ser) c.4930G>A (p.Gly1644Ser) | |
12 | g.51806383G>C | CA384880465 | SCN8A | c.4897G>C (p.Gly1633Arg) c.2961G>C c.4774G>C (p.Gly1592Arg) c.4930G>C (p.Gly1644Arg) | |
12 | g.51806383G>T | CA384880466 | SCN8A | c.4897G>T (p.Gly1633Cys) c.2961G>T c.4774G>T (p.Gly1592Cys) c.4930G>T (p.Gly1644Cys) | |
12 | g.51806384G>A | CA384880467 | SCN8A | c.4898G>A (p.Gly1633Asp) c.2962G>A c.4775G>A (p.Gly1592Asp) c.4931G>A (p.Gly1644Asp) | |
12 | g.51806384G>C | CA384880468 | SCN8A | c.4898G>C (p.Gly1633Ala) c.2962G>C c.4775G>C (p.Gly1592Ala) c.4931G>C (p.Gly1644Ala) | |
12 | g.51806384G>T | CA384880469 | SCN8A | c.4898G>T (p.Gly1633Val) c.2962G>T c.4775G>T (p.Gly1592Val) c.4931G>T (p.Gly1644Val) | |
12 | g.51806385C>A | CA479788119 | SCN8A | c.4899C>A (p.Gly1633=) c.2963C>A c.4776C>A (p.Gly1592=) c.4932C>A (p.Gly1644=) | |
12 | g.51806385C= | CA2036192980 | SCN8A | c.4899C= (p.Gly1633=) c.2963C= c.4776C= (p.Gly1592=) c.4932C= (p.Gly1644=) | |
12 | g.51806385C>G | CA479788121 | SCN8A | c.4899C>G (p.Gly1633=) c.2963C>G c.4776C>G (p.Gly1592=) c.4932C>G (p.Gly1644=) | |
12 | g.51806385C>T | CA6571879 | SCN8A | c.4899C>T (p.Gly1633=) c.2963C>T c.4776C>T (p.Gly1592=) c.4932C>T (p.Gly1644=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806386G>A | CA236327392 | SCN8A | c.4900G>A (p.Ala1634Thr) c.2964G>A c.4777G>A (p.Ala1593Thr) c.4933G>A (p.Ala1645Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.51806386G>C | CA384880470 | SCN8A | c.4900G>C (p.Ala1634Pro) c.2964G>C c.4777G>C (p.Ala1593Pro) c.4933G>C (p.Ala1645Pro) | |
12 | g.51806386G= | CA2036192988 | SCN8A | c.4900G= (p.Ala1634=) c.2964G= c.4777G= (p.Ala1593=) c.4933G= (p.Ala1645=) | |
12 | g.51806386G>T | CA384880471 | SCN8A | c.4900G>T (p.Ala1634Ser) c.2964G>T c.4777G>T (p.Ala1593Ser) c.4933G>T (p.Ala1645Ser) | |
12 | g.51806387C>A | CA384880473 | SCN8A | c.4901C>A (p.Ala1634Asp) c.2965C>A c.4778C>A (p.Ala1593Asp) c.4934C>A (p.Ala1645Asp) | |
12 | g.51806387C>G | CA384880474 | SCN8A | c.4901C>G (p.Ala1634Gly) c.2965C>G c.4778C>G (p.Ala1593Gly) c.4934C>G (p.Ala1645Gly) | |
12 | g.51806387C>T | CA384880472 | SCN8A | c.4901C>T (p.Ala1634Val) c.2965C>T c.4778C>T (p.Ala1593Val) c.4934C>T (p.Ala1645Val) | COSMIC COSMIC |
12 | g.51806388del | CA2512898859 | SCN8A | c.4902del (p.Ile1637PhefsTer8) c.2966del c.4779del (p.Ile1596PhefsTer8) c.4935del (p.Ile1648PhefsTer8) | |
12 | g.51806388C>A | CA479788122 | SCN8A | c.4902C>A (p.Ala1634=) c.2966C>A c.4779C>A (p.Ala1593=) c.4935C>A (p.Ala1645=) | |
12 | g.51806388C>G | CA479788123 | SCN8A | c.4902C>G (p.Ala1634=) c.2966C>G c.4779C>G (p.Ala1593=) c.4935C>G (p.Ala1645=) | |
12 | g.51806388C>T | CA479788124 | SCN8A | c.4902C>T (p.Ala1634=) c.2966C>T c.4779C>T (p.Ala1593=) c.4935C>T (p.Ala1645=) | |
12 | g.51806389A= | CA2036192993 | SCN8A | c.4903A= (p.Lys1635=) c.2967A= c.4780A= (p.Lys1594=) c.4936A= (p.Lys1646=) | |
12 | g.51806389A>C | CA384880475 | SCN8A | c.4903A>C (p.Lys1635Gln) c.2967A>C c.4780A>C (p.Lys1594Gln) c.4936A>C (p.Lys1646Gln) | |
12 | g.51806389A>G | CA384880476 | SCN8A | c.4903A>G (p.Lys1635Glu) c.2967A>G c.4780A>G (p.Lys1594Glu) c.4936A>G (p.Lys1646Glu) | |
12 | g.51806389A>T | CA384880477 | SCN8A | c.4903A>T (p.Lys1635Ter) c.2967A>T c.4780A>T (p.Lys1594Ter) c.4936A>T (p.Lys1646Ter) | dbSNP |
12 | g.51806390A>C | CA384880478 | SCN8A | c.4904A>C (p.Lys1635Thr) c.2968A>C c.4781A>C (p.Lys1594Thr) c.4937A>C (p.Lys1646Thr) | |
12 | g.51806390A>G | CA384880479 | SCN8A | c.4904A>G (p.Lys1635Arg) c.2968A>G c.4781A>G (p.Lys1594Arg) c.4937A>G (p.Lys1646Arg) | |
12 | g.51806390A>T | CA384880480 | SCN8A | c.4904A>T (p.Lys1635Ile) c.2968A>T c.4781A>T (p.Lys1594Ile) c.4937A>T (p.Lys1646Ile) | |
12 | g.51806391A>C | CA384880482 | SCN8A | c.4905A>C (p.Lys1635Asn) c.2969A>C c.4782A>C (p.Lys1594Asn) c.4938A>C (p.Lys1646Asn) | |
12 | g.51806391A>G | CA479788127 | SCN8A | c.4905A>G (p.Lys1635=) c.2969A>G c.4782A>G (p.Lys1594=) c.4938A>G (p.Lys1646=) | |
12 | g.51806391A>T | CA384880481 | SCN8A | c.4905A>T (p.Lys1635Asn) c.2969A>T c.4782A>T (p.Lys1594Asn) c.4938A>T (p.Lys1646Asn) | |
12 | g.51806392G>A | CA384880483 | SCN8A | c.4906G>A (p.Gly1636Arg) c.2970G>A c.4783G>A (p.Gly1595Arg) c.4939G>A (p.Gly1647Arg) | |
12 | g.51806392G>C | CA384880484 | SCN8A | c.4906G>C (p.Gly1636Arg) c.2970G>C c.4783G>C (p.Gly1595Arg) c.4939G>C (p.Gly1647Arg) | |
12 | g.51806392G>T | CA384880485 | SCN8A | c.4906G>T (p.Gly1636Trp) c.2970G>T c.4783G>T (p.Gly1595Trp) c.4939G>T (p.Gly1647Trp) | |
12 | g.51806393G>A | CA384880486 | SCN8A | c.4907G>A (p.Gly1636Glu) c.2971G>A c.4784G>A (p.Gly1595Glu) c.4940G>A (p.Gly1647Glu) | |
12 | g.51806393G>C | CA384880487 | SCN8A | c.4907G>C (p.Gly1636Ala) c.2971G>C c.4784G>C (p.Gly1595Ala) c.4940G>C (p.Gly1647Ala) | |
12 | g.51806393G>T | CA384880488 | SCN8A | c.4907G>T (p.Gly1636Val) c.2971G>T c.4784G>T (p.Gly1595Val) c.4940G>T (p.Gly1647Val) | |
12 | g.51806394G>A | CA479788130 | SCN8A | c.4908G>A (p.Gly1636=) c.2972G>A c.4785G>A (p.Gly1595=) c.4941G>A (p.Gly1647=) | |
12 | g.51806394G>C | CA479788131 | SCN8A | c.4908G>C (p.Gly1636=) c.2972G>C c.4785G>C (p.Gly1595=) c.4941G>C (p.Gly1647=) | |
12 | g.51806394G>T | CA479788132 | SCN8A | c.4908G>T (p.Gly1636=) c.2972G>T c.4785G>T (p.Gly1595=) c.4941G>T (p.Gly1647=) | gnomAD v4 |
12 | g.51806395A>C | CA384880489 | SCN8A | c.4909A>C (p.Ile1637Leu) c.2973A>C c.4786A>C (p.Ile1596Leu) c.4942A>C (p.Ile1648Leu) | |
12 | g.51806395A>G | CA384880491 | SCN8A | c.4909A>G (p.Ile1637Val) c.2973A>G c.4786A>G (p.Ile1596Val) c.4942A>G (p.Ile1648Val) | |
12 | g.51806395A>T | CA384880490 | SCN8A | c.4909A>T (p.Ile1637Phe) c.2973A>T c.4786A>T (p.Ile1596Phe) c.4942A>T (p.Ile1648Phe) | |
12 | g.51806395dup | CA2540407650 | SCN8A | c.4909dup (p.Ile1637AsnfsTer?) c.2973dup c.4786dup (p.Ile1596AsnfsTer?) c.4942dup (p.Ile1648AsnfsTer?) | |
12 | g.51806396T>A | CA384880492 | SCN8A | c.4910T>A (p.Ile1637Asn) c.2974T>A c.4787T>A (p.Ile1596Asn) c.4943T>A (p.Ile1648Asn) | |
12 | g.51806396T>C | CA384880494 | SCN8A | c.4910T>C (p.Ile1637Thr) c.2974T>C c.4787T>C (p.Ile1596Thr) c.4943T>C (p.Ile1648Thr) | |
12 | g.51806396T>G | CA384880493 | SCN8A | c.4910T>G (p.Ile1637Ser) c.2974T>G c.4787T>G (p.Ile1596Ser) c.4943T>G (p.Ile1648Ser) | |
12 | g.51806397T>A | CA479788140 | SCN8A | c.4911T>A (p.Ile1637=) c.2975T>A c.4788T>A (p.Ile1596=) c.4944T>A (p.Ile1648=) | |
12 | g.51806397T>C | CA479788139 | SCN8A | c.4911T>C (p.Ile1637=) c.2975T>C c.4788T>C (p.Ile1596=) c.4944T>C (p.Ile1648=) | |
12 | g.51806397T>G | CA384880496 | SCN8A | c.4911T>G (p.Ile1637Met) c.2975T>G c.4788T>G (p.Ile1596Met) c.4944T>G (p.Ile1648Met) | ClinVar dbSNP |
12 | g.51806398C>A | CA384880500 | SCN8A | c.4912C>A (p.Arg1638Ser) c.2976C>A c.4789C>A (p.Arg1597Ser) c.4945C>A (p.Arg1649Ser) | |
12 | g.51806398C= | CA2036193000 | SCN8A | c.4912C= (p.Arg1638=) c.2976C= c.4789C= (p.Arg1597=) c.4945C= (p.Arg1649=) | |
12 | g.51806398C>G | CA384880499 | SCN8A | c.4912C>G (p.Arg1638Gly) c.2976C>G c.4789C>G (p.Arg1597Gly) c.4945C>G (p.Arg1649Gly) | |
12 | g.51806398C>T | CA384880501 | SCN8A | c.4912C>T (p.Arg1638Cys) c.2976C>T c.4789C>T (p.Arg1597Cys) c.4945C>T (p.Arg1649Cys) | ClinVar dbSNP |
12 | g.51806399G>A | CA16619564 | SCN8A | c.4913G>A (p.Arg1638His) c.2977G>A c.4790G>A (p.Arg1597His) c.4946G>A (p.Arg1649His) | ClinVar dbSNP |
12 | g.51806399G>C | CA384880502 | SCN8A | c.4913G>C (p.Arg1638Pro) c.2977G>C c.4790G>C (p.Arg1597Pro) c.4946G>C (p.Arg1649Pro) | |
12 | g.51806399G= | CA2036193011 | SCN8A | c.4913G= (p.Arg1638=) c.2977G= c.4790G= (p.Arg1597=) c.4946G= (p.Arg1649=) | |
12 | g.51806399G>T | CA384880503 | SCN8A | c.4913G>T (p.Arg1638Leu) c.2977G>T c.4790G>T (p.Arg1597Leu) c.4946G>T (p.Arg1649Leu) | |
12 | g.51806400T>A | CA479788144 | SCN8A | c.4914T>A (p.Arg1638=) c.2978T>A c.4791T>A (p.Arg1597=) c.4947T>A (p.Arg1649=) | |
12 | g.51806400T>C | CA479788145 | SCN8A | c.4914T>C (p.Arg1638=) c.2978T>C c.4791T>C (p.Arg1597=) c.4947T>C (p.Arg1649=) | |
12 | g.51806400T>G | CA479788146 | SCN8A | c.4914T>G (p.Arg1638=) c.2978T>G c.4791T>G (p.Arg1597=) c.4947T>G (p.Arg1649=) | |
12 | g.51806401A>C | CA384880504 | SCN8A | c.4915A>C (p.Thr1639Pro) c.2979A>C c.4792A>C (p.Thr1598Pro) c.4948A>C (p.Thr1650Pro) | |
12 | g.51806401A>G | CA384880505 | SCN8A | c.4915A>G (p.Thr1639Ala) c.2979A>G c.4792A>G (p.Thr1598Ala) c.4948A>G (p.Thr1650Ala) | |
12 | g.51806401A>T | CA384880506 | SCN8A | c.4915A>T (p.Thr1639Ser) c.2979A>T c.4792A>T (p.Thr1598Ser) c.4948A>T (p.Thr1650Ser) | |
12 | g.51806402C>A | CA384880507 | SCN8A | c.4916C>A (p.Thr1639Asn) c.2980C>A c.4793C>A (p.Thr1598Asn) c.4949C>A (p.Thr1650Asn) | |
12 | g.51806402C>G | CA384880508 | SCN8A | c.4916C>G (p.Thr1639Ser) c.2980C>G c.4793C>G (p.Thr1598Ser) c.4949C>G (p.Thr1650Ser) | ClinVar |
12 | g.51806402C>T | CA384880509 | SCN8A | c.4916C>T (p.Thr1639Ile) c.2980C>T c.4793C>T (p.Thr1598Ile) c.4949C>T (p.Thr1650Ile) | ClinVar dbSNP |
12 | g.51806403C>A | CA479788151 | SCN8A | c.4917C>A (p.Thr1639=) c.2981C>A c.4794C>A (p.Thr1598=) c.4950C>A (p.Thr1650=) | |
12 | g.51806403C>G | CA479788149 | SCN8A | c.4917C>G (p.Thr1639=) c.2981C>G c.4794C>G (p.Thr1598=) c.4950C>G (p.Thr1650=) | |
12 | g.51806403C>T | CA479788150 | SCN8A | c.4917C>T (p.Thr1639=) c.2981C>T c.4794C>T (p.Thr1598=) c.4950C>T (p.Thr1650=) | |
12 | g.51806404C>A | CA384880510 | SCN8A | c.4918C>A (p.Leu1640Met) c.2982C>A c.4795C>A (p.Leu1599Met) c.4951C>A (p.Leu1651Met) | |
12 | g.51806404C>G | CA384880511 | SCN8A | c.4918C>G (p.Leu1640Val) c.2982C>G c.4795C>G (p.Leu1599Val) c.4951C>G (p.Leu1651Val) | |
12 | g.51806404C>T | CA479788152 | SCN8A | c.4918C>T (p.Leu1640=) c.2982C>T c.4795C>T (p.Leu1599=) c.4951C>T (p.Leu1651=) | |
12 | g.51806405T>A | CA384880514 | SCN8A | c.4919T>A (p.Leu1640Gln) c.2983T>A c.4796T>A (p.Leu1599Gln) c.4952T>A (p.Leu1651Gln) | |
12 | g.51806405T>C | CA384880513 | SCN8A | c.4919T>C (p.Leu1640Pro) c.2983T>C c.4796T>C (p.Leu1599Pro) c.4952T>C (p.Leu1651Pro) | |
12 | g.51806405T>G | CA384880512 | SCN8A | c.4919T>G (p.Leu1640Arg) c.2983T>G c.4796T>G (p.Leu1599Arg) c.4952T>G (p.Leu1651Arg) | |
12 | g.51806406G>A | CA479788156 | SCN8A | c.4920G>A (p.Leu1640=) c.2984G>A c.4797G>A (p.Leu1599=) c.4953G>A (p.Leu1651=) | |
12 | g.51806406G>C | CA479788157 | SCN8A | c.4920G>C (p.Leu1640=) c.2984G>C c.4797G>C (p.Leu1599=) c.4953G>C (p.Leu1651=) | |
12 | g.51806406G>T | CA479788158 | SCN8A | c.4920G>T (p.Leu1640=) c.2984G>T c.4797G>T (p.Leu1599=) c.4953G>T (p.Leu1651=) | |
12 | g.51806407C>A | CA384880515 | SCN8A | c.4921C>A (p.Leu1641Ile) c.2985C>A c.4798C>A (p.Leu1600Ile) c.4954C>A (p.Leu1652Ile) | |
12 | g.51806407C>G | CA384880516 | SCN8A | c.4921C>G (p.Leu1641Val) c.2985C>G c.4798C>G (p.Leu1600Val) c.4954C>G (p.Leu1652Val) | |
12 | g.51806407C>T | CA384880517 | SCN8A | c.4921C>T (p.Leu1641Phe) c.2985C>T c.4798C>T (p.Leu1600Phe) c.4954C>T (p.Leu1652Phe) | |
12 | g.51806408T>A | CA384880518 | SCN8A | c.4922T>A (p.Leu1641His) c.2986T>A c.4799T>A (p.Leu1600His) c.4955T>A (p.Leu1652His) | |
12 | g.51806408T>C | CA384880519 | SCN8A | c.4922T>C (p.Leu1641Pro) c.2986T>C c.4799T>C (p.Leu1600Pro) c.4955T>C (p.Leu1652Pro) | |
12 | g.51806408T>G | CA384880520 | SCN8A | c.4922T>G (p.Leu1641Arg) c.2986T>G c.4799T>G (p.Leu1600Arg) c.4955T>G (p.Leu1652Arg) | ClinVar dbSNP |
12 | g.51806408T= | CA2036193015 | SCN8A | c.4922T= (p.Leu1641=) c.2986T= c.4799T= (p.Leu1600=) c.4955T= (p.Leu1652=) | |
12 | g.51806409C>A | CA479788161 | SCN8A | c.4923C>A (p.Leu1641=) c.2987C>A c.4800C>A (p.Leu1600=) c.4956C>A (p.Leu1652=) | |
12 | g.51806409C= | CA2036193018 | SCN8A | c.4923C= (p.Leu1641=) c.2987C= c.4800C= (p.Leu1600=) c.4956C= (p.Leu1652=) | |
12 | g.51806409C>G | CA6571880 | SCN8A | c.4923C>G (p.Leu1641=) c.2987C>G c.4800C>G (p.Leu1600=) c.4956C>G (p.Leu1652=) | dbSNP ExAC gnomAD v2 |
12 | g.51806409C>T | CA479788160 | SCN8A | c.4923C>T (p.Leu1641=) c.2987C>T c.4800C>T (p.Leu1600=) c.4956C>T (p.Leu1652=) | |
12 | g.51806410T>A | CA384880521 | SCN8A | c.4924T>A (p.Phe1642Ile) c.2988T>A c.4801T>A (p.Phe1601Ile) c.4957T>A (p.Phe1653Ile) | |
12 | g.51806410T>C | CA384880522 | SCN8A | c.4924T>C (p.Phe1642Leu) c.2988T>C c.4801T>C (p.Phe1601Leu) c.4957T>C (p.Phe1653Leu) | ClinVar dbSNP |
12 | g.51806410T>G | CA384880523 | SCN8A | c.4924T>G (p.Phe1642Val) c.2988T>G c.4801T>G (p.Phe1601Val) c.4957T>G (p.Phe1653Val) | |
12 | g.51806410T= | CA2036193024 | SCN8A | c.4924T= (p.Phe1642=) c.2988T= c.4801T= (p.Phe1601=) c.4957T= (p.Phe1653=) | |
12 | g.51806411T>A | CA384880525 | SCN8A | c.4925T>A (p.Phe1642Tyr) c.2989T>A c.4802T>A (p.Phe1601Tyr) c.4958T>A (p.Phe1653Tyr) | |
12 | g.51806411T>C | CA384880527 | SCN8A | c.4925T>C (p.Phe1642Ser) c.2989T>C c.4802T>C (p.Phe1601Ser) c.4958T>C (p.Phe1653Ser) | |
12 | g.51806411T>G | CA384880529 | SCN8A | c.4925T>G (p.Phe1642Cys) c.2989T>G c.4802T>G (p.Phe1601Cys) c.4958T>G (p.Phe1653Cys) | |
12 | g.51806412T>A | CA384880533 | SCN8A | c.4926T>A (p.Phe1642Leu) c.2990T>A c.4803T>A (p.Phe1601Leu) c.4959T>A (p.Phe1653Leu) | |
12 | g.51806412T>C | CA479788162 | SCN8A | c.4926T>C (p.Phe1642=) c.2990T>C c.4803T>C (p.Phe1601=) c.4959T>C (p.Phe1653=) | |
12 | g.51806412T>G | CA384880534 | SCN8A | c.4926T>G (p.Phe1642Leu) c.2990T>G c.4803T>G (p.Phe1601Leu) c.4959T>G (p.Phe1653Leu) | |
12 | g.51806413G>A | CA384880538 | SCN8A | c.4927G>A (p.Ala1643Thr) c.2991G>A c.4804G>A (p.Ala1602Thr) c.4960G>A (p.Ala1654Thr) | gnomAD v4 |
12 | g.51806413G>C | CA384880540 | SCN8A | c.4927G>C (p.Ala1643Pro) c.2991G>C c.4804G>C (p.Ala1602Pro) c.4960G>C (p.Ala1654Pro) | |
12 | g.51806413G>T | CA384880542 | SCN8A | c.4927G>T (p.Ala1643Ser) c.2991G>T c.4804G>T (p.Ala1602Ser) c.4960G>T (p.Ala1654Ser) | |
12 | g.51806414C>A | CA384880544 | SCN8A | c.4928C>A (p.Ala1643Asp) c.2992C>A c.4805C>A (p.Ala1602Asp) c.4961C>A (p.Ala1654Asp) | |
12 | g.51806414C= | CA2036193031 | SCN8A | c.4928C= (p.Ala1643=) c.2992C= c.4805C= (p.Ala1602=) c.4961C= (p.Ala1654=) | |
12 | g.51806414C>G | CA384880546 | SCN8A | c.4928C>G (p.Ala1643Gly) c.2992C>G c.4805C>G (p.Ala1602Gly) c.4961C>G (p.Ala1654Gly) | |
12 | g.51806414C>T | CA236327405 | SCN8A | c.4928C>T (p.Ala1643Val) c.2992C>T c.4805C>T (p.Ala1602Val) c.4961C>T (p.Ala1654Val) | dbSNP |
12 | g.51806415C>A | CA479788164 | SCN8A | c.4929C>A (p.Ala1643=) c.2993C>A c.4806C>A (p.Ala1602=) c.4962C>A (p.Ala1654=) | |
12 | g.51806415C>G | CA479788165 | SCN8A | c.4929C>G (p.Ala1643=) c.2993C>G c.4806C>G (p.Ala1602=) c.4962C>G (p.Ala1654=) | |
12 | g.51806415C>T | CA479788167 | SCN8A | c.4929C>T (p.Ala1643=) c.2993C>T c.4806C>T (p.Ala1602=) c.4962C>T (p.Ala1654=) | |
12 | g.51806416T>A | CA384880550 | SCN8A | c.4930T>A (p.Leu1644Ile) c.2994T>A c.4807T>A (p.Leu1603Ile) c.4963T>A (p.Leu1655Ile) | |
12 | g.51806416T>C | CA479788168 | SCN8A | c.4930T>C (p.Leu1644=) c.2994T>C c.4807T>C (p.Leu1603=) c.4963T>C (p.Leu1655=) | ClinVar gnomAD v4 |
12 | g.51806416T>G | CA384880552 | SCN8A | c.4930T>G (p.Leu1644Val) c.2994T>G c.4807T>G (p.Leu1603Val) c.4963T>G (p.Leu1655Val) | |
12 | g.51806417T>A | CA384880555 | SCN8A | c.4931T>A (p.Leu1644Ter) c.2995T>A c.4808T>A (p.Leu1603Ter) c.4964T>A (p.Leu1655Ter) | |
12 | g.51806417T>C | CA384880557 | SCN8A | c.4931T>C (p.Leu1644Ser) c.2995T>C c.4808T>C (p.Leu1603Ser) c.4964T>C (p.Leu1655Ser) | |
12 | g.51806417T>G | CA384880559 | SCN8A | c.4931T>G (p.Leu1644Ter) c.2995T>G c.4808T>G (p.Leu1603Ter) c.4964T>G (p.Leu1655Ter) | |
12 | g.51806418A>C | CA384880561 | SCN8A | c.4932A>C (p.Leu1644Phe) c.2996A>C c.4809A>C (p.Leu1603Phe) c.4965A>C (p.Leu1655Phe) | |
12 | g.51806418A>G | CA479788169 | SCN8A | c.4932A>G (p.Leu1644=) c.2996A>G c.4809A>G (p.Leu1603=) c.4965A>G (p.Leu1655=) | gnomAD v4 |
12 | g.51806418A>T | CA384880564 | SCN8A | c.4932A>T (p.Leu1644Phe) c.2996A>T c.4809A>T (p.Leu1603Phe) c.4965A>T (p.Leu1655Phe) | |
12 | g.51806419A= | CA2036193038 | SCN8A | c.4933A= (p.Met1645=) c.2997A= c.4810A= (p.Met1604=) c.4966A= (p.Met1656=) | |
12 | g.51806419A>C | CA384880569 | SCN8A | c.4933A>C (p.Met1645Leu) c.2997A>C c.4810A>C (p.Met1604Leu) c.4966A>C (p.Met1656Leu) | |
12 | g.51806419A>G | CA384880566 | SCN8A | c.4933A>G (p.Met1645Val) c.2997A>G c.4810A>G (p.Met1604Val) c.4966A>G (p.Met1656Val) | ClinVar dbSNP |
12 | g.51806419A>T | CA384880568 | SCN8A | c.4933A>T (p.Met1645Leu) c.2997A>T c.4810A>T (p.Met1604Leu) c.4966A>T (p.Met1656Leu) | |
12 | g.51806420T>A | CA384880573 | SCN8A | c.4934T>A (p.Met1645Lys) c.2998T>A c.4811T>A (p.Met1604Lys) c.4967T>A (p.Met1656Lys) | |
12 | g.51806420T>C | CA384880575 | SCN8A | c.4934T>C (p.Met1645Thr) c.2998T>C c.4811T>C (p.Met1604Thr) c.4967T>C (p.Met1656Thr) | |
12 | g.51806420T>G | CA384880577 | SCN8A | c.4934T>G (p.Met1645Arg) c.2998T>G c.4811T>G (p.Met1604Arg) c.4967T>G (p.Met1656Arg) | ClinVar |
12 | g.51806421G>A | CA384880581 | SCN8A | c.4935G>A (p.Met1645Ile) c.2999G>A c.4812G>A (p.Met1604Ile) c.4968G>A (p.Met1656Ile) | |
12 | g.51806421G>C | CA384880583 | SCN8A | c.4935G>C (p.Met1645Ile) c.2999G>C c.4812G>C (p.Met1604Ile) c.4968G>C (p.Met1656Ile) | |
12 | g.51806421G>T | CA384880584 | SCN8A | c.4935G>T (p.Met1645Ile) c.2999G>T c.4812G>T (p.Met1604Ile) c.4968G>T (p.Met1656Ile) | ClinVar |
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) | 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) | |
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) | ClinVar |
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) | |
12 | g.51806455C>T | CA6571883 | SCN8A | c.4969C>T (p.Leu1657=) c.3033C>T c.4846C>T (p.Leu1616=) c.5002C>T (p.Leu1668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806456T>A | CA384882100 | SCN8A | c.4970T>A (p.Leu1657Gln) c.3034T>A c.4847T>A (p.Leu1616Gln) c.5003T>A (p.Leu1668Gln) | |
12 | g.51806456T>C | CA384882101 | SCN8A | c.4970T>C (p.Leu1657Pro) c.3034T>C c.4847T>C (p.Leu1616Pro) c.5003T>C (p.Leu1668Pro) | |
12 | g.51806456T>G | CA384882102 | SCN8A | c.4970T>G (p.Leu1657Arg) c.3034T>G c.4847T>G (p.Leu1616Arg) c.5003T>G (p.Leu1668Arg) | |
12 | g.51806457G>A | CA480061756 | SCN8A | c.4971G>A (p.Leu1657=) c.3035G>A c.4848G>A (p.Leu1616=) c.5004G>A (p.Leu1668=) | ClinVar gnomAD v4 |
12 | g.51806457G>C | CA480061757 | SCN8A | c.4971G>C (p.Leu1657=) c.3035G>C c.4848G>C (p.Leu1616=) c.5004G>C (p.Leu1668=) | gnomAD v4 |
12 | g.51806457G>T | CA480061758 | SCN8A | c.4971G>T (p.Leu1657=) c.3035G>T c.4848G>T (p.Leu1616=) c.5004G>T (p.Leu1668=) | |
12 | g.51806458C>A | CA384882107 | SCN8A | c.4972C>A (p.Leu1658Ile) c.3036C>A c.4849C>A (p.Leu1617Ile) c.5005C>A (p.Leu1669Ile) | |
12 | g.51806458C= | CA2036193150 | SCN8A | c.4972C= (p.Leu1658=) c.3036C= c.4849C= (p.Leu1617=) c.5005C= (p.Leu1669=) | |
12 | g.51806458C>G | CA384882110 | SCN8A | c.4972C>G (p.Leu1658Val) c.3036C>G c.4849C>G (p.Leu1617Val) c.5005C>G (p.Leu1669Val) | |
12 | g.51806458C>T | CA384882113 | SCN8A | c.4972C>T (p.Leu1658Phe) c.3036C>T c.4849C>T (p.Leu1617Phe) c.5005C>T (p.Leu1669Phe) | ClinVar dbSNP |
12 | g.51806459T>A | CA384882115 | SCN8A | c.4973T>A (p.Leu1658His) c.3037T>A c.4850T>A (p.Leu1617His) c.5006T>A (p.Leu1669His) | |
12 | g.51806459T>C | CA384882119 | SCN8A | c.4973T>C (p.Leu1658Pro) c.3037T>C c.4850T>C (p.Leu1617Pro) c.5006T>C (p.Leu1669Pro) | |
12 | g.51806459T>G | CA384882120 | SCN8A | c.4973T>G (p.Leu1658Arg) c.3037T>G c.4850T>G (p.Leu1617Arg) c.5006T>G (p.Leu1669Arg) | |
12 | g.51806460C>A | CA480061760 | SCN8A | c.4974C>A (p.Leu1658=) c.3038C>A c.4851C>A (p.Leu1617=) c.5007C>A (p.Leu1669=) | |
12 | g.51806460C>G | CA480061761 | SCN8A | c.4974C>G (p.Leu1658=) c.3038C>G c.4851C>G (p.Leu1617=) c.5007C>G (p.Leu1669=) | |
12 | g.51806460C>T | CA480061762 | SCN8A | c.4974C>T (p.Leu1658=) c.3038C>T c.4851C>T (p.Leu1617=) c.5007C>T (p.Leu1669=) | |
12 | g.51806461T>A | CA384882130 | SCN8A | c.4975T>A (p.Phe1659Ile) c.3039T>A c.4852T>A (p.Phe1618Ile) c.5008T>A (p.Phe1670Ile) | |
12 | g.51806461T>C | CA384882126 | SCN8A | c.4975T>C (p.Phe1659Leu) c.3039T>C c.4852T>C (p.Phe1618Leu) c.5008T>C (p.Phe1670Leu) | |
12 | g.51806461T>G | CA384882129 | SCN8A | c.4975T>G (p.Phe1659Val) c.3039T>G c.4852T>G (p.Phe1618Val) c.5008T>G (p.Phe1670Val) | |
12 | g.51806462T>A | CA384882131 | SCN8A | c.4976T>A (p.Phe1659Tyr) c.3040T>A c.4853T>A (p.Phe1618Tyr) c.5009T>A (p.Phe1670Tyr) | |
12 | g.51806462T>C | CA384882134 | SCN8A | c.4976T>C (p.Phe1659Ser) c.3040T>C c.4853T>C (p.Phe1618Ser) c.5009T>C (p.Phe1670Ser) | |
12 | g.51806462T>G | CA384882136 | SCN8A | c.4976T>G (p.Phe1659Cys) c.3040T>G c.4853T>G (p.Phe1618Cys) c.5009T>G (p.Phe1670Cys) | |
12 | g.51806463C>A | CA384882138 | SCN8A | c.4977C>A (p.Phe1659Leu) c.3041C>A c.4854C>A (p.Phe1618Leu) c.5010C>A (p.Phe1670Leu) | |
12 | g.51806463C>G | CA384882142 | SCN8A | c.4977C>G (p.Phe1659Leu) c.3041C>G c.4854C>G (p.Phe1618Leu) c.5010C>G (p.Phe1670Leu) | |
12 | g.51806463C>T | CA480061764 | SCN8A | c.4977C>T (p.Phe1659=) c.3041C>T c.4854C>T (p.Phe1618=) c.5010C>T (p.Phe1670=) | COSMIC COSMIC |
12 | g.51806464C>A | CA384882145 | SCN8A | c.4978C>A (p.Leu1660Met) c.3042C>A c.4855C>A (p.Leu1619Met) c.5011C>A (p.Leu1671Met) | |
12 | g.51806464C= | CA2036193155 | SCN8A | c.4978C= (p.Leu1660=) c.3042C= c.4855C= (p.Leu1619=) c.5011C= (p.Leu1671=) | |
12 | g.51806464C>G | CA384882148 | SCN8A | c.4978C>G (p.Leu1660Val) c.3042C>G c.4855C>G (p.Leu1619Val) c.5011C>G (p.Leu1671Val) | |
12 | g.51806464C>T | CA480061765 | SCN8A | c.4978C>T (p.Leu1660=) c.3042C>T c.4855C>T (p.Leu1619=) c.5011C>T (p.Leu1671=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806465T>A | CA384882152 | SCN8A | c.4979T>A (p.Leu1660Gln) c.3043T>A c.4856T>A (p.Leu1619Gln) c.5012T>A (p.Leu1671Gln) | ClinVar |
12 | g.51806465T>C | CA384882155 | SCN8A | c.4979T>C (p.Leu1660Pro) c.3043T>C c.4856T>C (p.Leu1619Pro) c.5012T>C (p.Leu1671Pro) | |
12 | g.51806465T>G | CA384882157 | SCN8A | c.4979T>G (p.Leu1660Arg) c.3043T>G c.4856T>G (p.Leu1619Arg) c.5012T>G (p.Leu1671Arg) | |
12 | g.51806466G>A | CA480061767 | SCN8A | c.4980G>A (p.Leu1660=) c.3044G>A c.4857G>A (p.Leu1619=) c.5013G>A (p.Leu1671=) | dbSNP gnomAD v2 |
12 | g.51806466G>C | CA6571884 | SCN8A | c.4980G>C (p.Leu1660=) c.3044G>C c.4857G>C (p.Leu1619=) c.5013G>C (p.Leu1671=) | dbSNP ExAC gnomAD v2 |
12 | g.51806466G= | CA2036193161 | SCN8A | c.4980G= (p.Leu1660=) c.3044G= c.4857G= (p.Leu1619=) c.5013G= (p.Leu1671=) | |
12 | g.51806466G>T | CA480061770 | SCN8A | c.4980G>T (p.Leu1660=) c.3044G>T c.4857G>T (p.Leu1619=) c.5013G>T (p.Leu1671=) | |
12 | g.51806467G>A | CA384882164 | SCN8A | c.4981G>A (p.Val1661Ile) c.3045G>A c.4858G>A (p.Val1620Ile) c.5014G>A (p.Val1672Ile) | ClinVar |
12 | g.51806467G>C | CA384882166 | SCN8A | c.4981G>C (p.Val1661Leu) c.3045G>C c.4858G>C (p.Val1620Leu) c.5014G>C (p.Val1672Leu) | |
12 | g.51806467G>T | CA384882162 | SCN8A | c.4981G>T (p.Val1661Phe) c.3045G>T c.4858G>T (p.Val1620Phe) c.5014G>T (p.Val1672Phe) | |
12 | g.51806468T>A | CA384882169 | SCN8A | c.4982T>A (p.Val1661Asp) c.3046T>A c.4859T>A (p.Val1620Asp) c.5015T>A (p.Val1672Asp) | |
12 | g.51806468T>C | CA384882173 | SCN8A | c.4982T>C (p.Val1661Ala) c.3046T>C c.4859T>C (p.Val1620Ala) c.5015T>C (p.Val1672Ala) | |
12 | g.51806468T>G | CA384882175 | SCN8A | c.4982T>G (p.Val1661Gly) c.3046T>G c.4859T>G (p.Val1620Gly) c.5015T>G (p.Val1672Gly) | |
12 | g.51806469C>A | CA480061771 | SCN8A | c.4983C>A (p.Val1661=) c.3047C>A c.4860C>A (p.Val1620=) c.5016C>A (p.Val1672=) | |
12 | g.51806469C= | CA2036193164 | SCN8A | c.4983C= (p.Val1661=) c.3047C= c.4860C= (p.Val1620=) c.5016C= (p.Val1672=) | |
12 | g.51806469C>G | CA480061773 | SCN8A | c.4983C>G (p.Val1661=) c.3047C>G c.4860C>G (p.Val1620=) c.5016C>G (p.Val1672=) | |
12 | g.51806469C>T | CA480061775 | SCN8A | c.4983C>T (p.Val1661=) c.3047C>T c.4860C>T (p.Val1620=) c.5016C>T (p.Val1672=) | ClinVar dbSNP gnomAD v4 |
12 | g.51806470A>C | CA384882188 | SCN8A | c.4984A>C (p.Met1662Leu) c.3048A>C c.4861A>C (p.Met1621Leu) c.5017A>C (p.Met1673Leu) | |
12 | g.51806470A>G | CA384882190 | SCN8A | c.4984A>G (p.Met1662Val) c.3048A>G c.4861A>G (p.Met1621Val) c.5017A>G (p.Met1673Val) | gnomAD v4 |
12 | g.51806470A>T | CA384882193 | SCN8A | c.4984A>T (p.Met1662Leu) c.3048A>T c.4861A>T (p.Met1621Leu) c.5017A>T (p.Met1673Leu) | |
12 | g.51806471T>A | CA384882195 | SCN8A | c.4985T>A (p.Met1662Lys) c.3049T>A c.4862T>A (p.Met1621Lys) c.5018T>A (p.Met1673Lys) | |
12 | g.51806471T>C | CA384882196 | SCN8A | c.4985T>C (p.Met1662Thr) c.3049T>C c.4862T>C (p.Met1621Thr) c.5018T>C (p.Met1673Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806471T>G | CA384882197 | SCN8A | c.4985T>G (p.Met1662Arg) c.3049T>G c.4862T>G (p.Met1621Arg) c.5018T>G (p.Met1673Arg) | |
12 | g.51806471T= | CA2036193171 | SCN8A | c.4985T= (p.Met1662=) c.3049T= c.4862T= (p.Met1621=) c.5018T= (p.Met1673=) | |
12 | g.51806472G>A | CA384882200 | SCN8A | c.4986G>A (p.Met1662Ile) c.3050G>A c.4863G>A (p.Met1621Ile) c.5019G>A (p.Met1673Ile) | |
12 | g.51806472G>C | CA384882202 | SCN8A | c.4986G>C (p.Met1662Ile) c.3050G>C c.4863G>C (p.Met1621Ile) c.5019G>C (p.Met1673Ile) | |
12 | g.51806472G>T | CA384882204 | SCN8A | c.4986G>T (p.Met1662Ile) c.3050G>T c.4863G>T (p.Met1621Ile) c.5019G>T (p.Met1673Ile) | |
12 | g.51806473T>A | CA384882211 | SCN8A | c.4987T>A (p.Phe1663Ile) c.3051T>A c.4864T>A (p.Phe1622Ile) c.5020T>A (p.Phe1674Ile) | |
12 | g.51806473T>C | CA384882207 | SCN8A | c.4987T>C (p.Phe1663Leu) c.3051T>C c.4864T>C (p.Phe1622Leu) c.5020T>C (p.Phe1674Leu) | |
12 | g.51806473T>G | CA384882209 | SCN8A | c.4987T>G (p.Phe1663Val) c.3051T>G c.4864T>G (p.Phe1622Val) c.5020T>G (p.Phe1674Val) | |
12 | g.51806474T>A | CA384882214 | SCN8A | c.4988T>A (p.Phe1663Tyr) c.3052T>A c.4865T>A (p.Phe1622Tyr) c.5021T>A (p.Phe1674Tyr) | |
12 | g.51806474T>C | CA384882216 | SCN8A | c.4988T>C (p.Phe1663Ser) c.3052T>C c.4865T>C (p.Phe1622Ser) c.5021T>C (p.Phe1674Ser) | |
12 | g.51806474T>G | CA384882217 | SCN8A | c.4988T>G (p.Phe1663Cys) c.3052T>G c.4865T>G (p.Phe1622Cys) c.5021T>G (p.Phe1674Cys) | |
12 | g.51806475C>A | CA384882219 | SCN8A | c.4989C>A (p.Phe1663Leu) c.3053C>A c.4866C>A (p.Phe1622Leu) c.5022C>A (p.Phe1674Leu) | |
12 | g.51806475C= | CA2036193175 | SCN8A | c.4989C= (p.Phe1663=) c.3053C= c.4866C= (p.Phe1622=) c.5022C= (p.Phe1674=) | |
12 | g.51806475C>G | CA384882221 | SCN8A | c.4989C>G (p.Phe1663Leu) c.3053C>G c.4866C>G (p.Phe1622Leu) c.5022C>G (p.Phe1674Leu) | |
12 | g.51806475C>T | CA480061778 | SCN8A | c.4989C>T (p.Phe1663=) c.3053C>T c.4866C>T (p.Phe1622=) c.5022C>T (p.Phe1674=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806476A>C | CA384882225 | SCN8A | c.4990A>C (p.Ile1664Leu) c.3054A>C c.4867A>C (p.Ile1623Leu) c.5023A>C (p.Ile1675Leu) | |
12 | g.51806476A>G | CA384882228 | SCN8A | c.4990A>G (p.Ile1664Val) c.3054A>G c.4867A>G (p.Ile1623Val) c.5023A>G (p.Ile1675Val) | |
12 | g.51806476A>T | CA384882231 | SCN8A | c.4990A>T (p.Ile1664Phe) c.3054A>T c.4867A>T (p.Ile1623Phe) c.5023A>T (p.Ile1675Phe) | |
12 | g.51806477T>A | CA384882244 | SCN8A | c.4991T>A (p.Ile1664Asn) c.3055T>A c.4868T>A (p.Ile1623Asn) c.5024T>A (p.Ile1675Asn) | |
12 | g.51806477T>C | CA384882247 | SCN8A | c.4991T>C (p.Ile1664Thr) c.3055T>C c.4868T>C (p.Ile1623Thr) c.5024T>C (p.Ile1675Thr) | |
12 | g.51806477T>G | CA384882251 | SCN8A | c.4991T>G (p.Ile1664Ser) c.3055T>G c.4868T>G (p.Ile1623Ser) c.5024T>G (p.Ile1675Ser) | |
12 | g.51806478C>A | CA480061779 | SCN8A | c.4992C>A (p.Ile1664=) c.3056C>A c.4869C>A (p.Ile1623=) c.5025C>A (p.Ile1675=) | gnomAD v4 |
12 | g.51806478C>G | CA384882254 | SCN8A | c.4992C>G (p.Ile1664Met) c.3056C>G c.4869C>G (p.Ile1623Met) c.5025C>G (p.Ile1675Met) | |
12 | g.51806478C>T | CA480061780 | SCN8A | c.4992C>T (p.Ile1664=) c.3056C>T c.4869C>T (p.Ile1623=) c.5025C>T (p.Ile1675=) | COSMIC COSMIC |
12 | g.51806479T>A | CA384882268 | SCN8A | c.4993T>A (p.Phe1665Ile) c.3057T>A c.4870T>A (p.Phe1624Ile) c.5026T>A (p.Phe1676Ile) | |
12 | g.51806479T>C | CA384882266 | SCN8A | c.4993T>C (p.Phe1665Leu) c.3057T>C c.4870T>C (p.Phe1624Leu) c.5026T>C (p.Phe1676Leu) | |
12 | g.51806479T>G | CA384882259 | SCN8A | c.4993T>G (p.Phe1665Val) c.3057T>G c.4870T>G (p.Phe1624Val) c.5026T>G (p.Phe1676Val) | |
12 | g.51806480T>A | CA384882273 | SCN8A | c.4994T>A (p.Phe1665Tyr) c.3058T>A c.4871T>A (p.Phe1624Tyr) c.5027T>A (p.Phe1676Tyr) | |
12 | g.51806480T>C | CA384882278 | SCN8A | c.4994T>C (p.Phe1665Ser) c.3058T>C c.4871T>C (p.Phe1624Ser) c.5027T>C (p.Phe1676Ser) | |
12 | g.51806480T>G | CA384882275 | SCN8A | c.4994T>G (p.Phe1665Cys) c.3058T>G c.4871T>G (p.Phe1624Cys) c.5027T>G (p.Phe1676Cys) | |
12 | g.51806481C>A | CA384882282 | SCN8A | c.4995C>A (p.Phe1665Leu) c.3059C>A c.4872C>A (p.Phe1624Leu) c.5028C>A (p.Phe1676Leu) | |
12 | g.51806481C= | CA2036193178 | SCN8A | c.4995C= (p.Phe1665=) c.3059C= c.4872C= (p.Phe1624=) c.5028C= (p.Phe1676=) | |
12 | g.51806481C>G | CA384882286 | SCN8A | c.4995C>G (p.Phe1665Leu) c.3059C>G c.4872C>G (p.Phe1624Leu) c.5028C>G (p.Phe1676Leu) | |
12 | g.51806481C>T | CA480061782 | SCN8A | c.4995C>T (p.Phe1665=) c.3059C>T c.4872C>T (p.Phe1624=) c.5028C>T (p.Phe1676=) | ClinVar dbSNP gnomAD v4 |