Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |