Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806378T>A | CA384880452 | SCN8A | c.4892T>A (p.Ile1631Asn) c.2956T>A c.4769T>A (p.Ile1590Asn) c.4925T>A (p.Ile1642Asn) | ClinVar dbSNP |
12 | g.51806378T>C | CA384880453 | SCN8A | c.4892T>C (p.Ile1631Thr) c.2956T>C c.4769T>C (p.Ile1590Thr) c.4925T>C (p.Ile1642Thr) | ClinVar dbSNP |
12 | g.51806378T>G | CA384880454 | SCN8A | c.4892T>G (p.Ile1631Ser) c.2956T>G c.4769T>G (p.Ile1590Ser) c.4925T>G (p.Ile1642Ser) | |
12 | g.51806378T= | CA2036192947 | SCN8A | c.4892T= (p.Ile1631=) c.2956T= c.4769T= (p.Ile1590=) c.4925T= (p.Ile1642=) | |
12 | g.51806379C>A | CA479788112 | SCN8A | c.4893C>A (p.Ile1631=) c.2957C>A c.4770C>A (p.Ile1590=) c.4926C>A (p.Ile1642=) | |
12 | g.51806379C>G | CA384880455 | SCN8A | c.4893C>G (p.Ile1631Met) c.2957C>G c.4770C>G (p.Ile1590Met) c.4926C>G (p.Ile1642Met) | COSMIC COSMIC |
12 | g.51806379C>T | CA479788111 | SCN8A | c.4893C>T (p.Ile1631=) c.2957C>T c.4770C>T (p.Ile1590=) c.4926C>T (p.Ile1642=) | gnomAD v4 |
12 | g.51806380A= | CA2036192963 | SCN8A | c.4894A= (p.Lys1632=) c.2958A= c.4771A= (p.Lys1591=) c.4927A= (p.Lys1643=) | |
12 | g.51806380A>C | CA384880456 | SCN8A | c.4894A>C (p.Lys1632Gln) c.2958A>C c.4771A>C (p.Lys1591Gln) c.4927A>C (p.Lys1643Gln) | |
12 | g.51806380A>G | CA384880457 | SCN8A | c.4894A>G (p.Lys1632Glu) c.2958A>G c.4771A>G (p.Lys1591Glu) c.4927A>G (p.Lys1643Glu) | |
12 | g.51806380A>T | CA384880458 | SCN8A | c.4894A>T (p.Lys1632Ter) c.2958A>T c.4771A>T (p.Lys1591Ter) c.4927A>T (p.Lys1643Ter) | dbSNP |
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) |