Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.51806482T>A | CA384882289 | SCN8A | c.4996T>A (p.Ser1666Thr) c.3060T>A c.4873T>A (p.Ser1625Thr) c.5029T>A (p.Ser1677Thr) | |
12 | g.51806482T>C | CA384882292 | SCN8A | c.4996T>C (p.Ser1666Pro) c.3060T>C c.4873T>C (p.Ser1625Pro) c.5029T>C (p.Ser1677Pro) | |
12 | g.51806482T>G | CA384882295 | SCN8A | c.4996T>G (p.Ser1666Ala) c.3060T>G c.4873T>G (p.Ser1625Ala) c.5029T>G (p.Ser1677Ala) | gnomAD v4 |
12 | g.51806483C>A | CA384882298 | SCN8A | c.4997C>A (p.Ser1666Tyr) c.3061C>A c.4874C>A (p.Ser1625Tyr) c.5030C>A (p.Ser1677Tyr) | |
12 | g.51806483C>G | CA384882301 | SCN8A | c.4997C>G (p.Ser1666Cys) c.3061C>G c.4874C>G (p.Ser1625Cys) c.5030C>G (p.Ser1677Cys) | |
12 | g.51806483C>T | CA384882304 | SCN8A | c.4997C>T (p.Ser1666Phe) c.3061C>T c.4874C>T (p.Ser1625Phe) c.5030C>T (p.Ser1677Phe) | |
12 | g.51806484C>A | CA480061785 | SCN8A | c.4998C>A (p.Ser1666=) c.3062C>A c.4875C>A (p.Ser1625=) c.5031C>A (p.Ser1677=) | |
12 | g.51806484C>G | CA480061787 | SCN8A | c.4998C>G (p.Ser1666=) c.3062C>G c.4875C>G (p.Ser1625=) c.5031C>G (p.Ser1677=) | |
12 | g.51806484C>T | CA480061786 | SCN8A | c.4998C>T (p.Ser1666=) c.3062C>T c.4875C>T (p.Ser1625=) c.5031C>T (p.Ser1677=) | |
12 | g.51806485A>C | CA384882305 | SCN8A | c.4999A>C (p.Ile1667Leu) c.3063A>C c.4876A>C (p.Ile1626Leu) c.5032A>C (p.Ile1678Leu) | |
12 | g.51806485A>G | CA384882306 | SCN8A | c.4999A>G (p.Ile1667Val) c.3063A>G c.4876A>G (p.Ile1626Val) c.5032A>G (p.Ile1678Val) | |
12 | g.51806485A>T | CA384882311 | SCN8A | c.4999A>T (p.Ile1667Phe) c.3063A>T c.4876A>T (p.Ile1626Phe) c.5032A>T (p.Ile1678Phe) | |
12 | g.51806486T>A | CA384882316 | SCN8A | c.5000T>A (p.Ile1667Asn) c.3064T>A c.4877T>A (p.Ile1626Asn) c.5033T>A (p.Ile1678Asn) | |
12 | g.51806486T>C | CA384882315 | SCN8A | c.5000T>C (p.Ile1667Thr) c.3064T>C c.4877T>C (p.Ile1626Thr) c.5033T>C (p.Ile1678Thr) | |
12 | g.51806486T>G | CA384882314 | SCN8A | c.5000T>G (p.Ile1667Ser) c.3064T>G c.4877T>G (p.Ile1626Ser) c.5033T>G (p.Ile1678Ser) | |
12 | g.51806487T>A | CA480061789 | SCN8A | c.5001T>A (p.Ile1667=) c.3065T>A c.4878T>A (p.Ile1626=) c.5034T>A (p.Ile1678=) | |
12 | g.51806487T>C | CA480061790 | SCN8A | c.5001T>C (p.Ile1667=) c.3065T>C c.4878T>C (p.Ile1626=) c.5034T>C (p.Ile1678=) | |
12 | g.51806487T>G | CA384882318 | SCN8A | c.5001T>G (p.Ile1667Met) c.3065T>G c.4878T>G (p.Ile1626Met) c.5034T>G (p.Ile1678Met) | |
12 | g.51806488T>A | CA384882325 | SCN8A | c.5002T>A (p.Phe1668Ile) c.3066T>A c.4879T>A (p.Phe1627Ile) c.5035T>A (p.Phe1679Ile) | |
12 | g.51806488T>C | CA384882328 | SCN8A | c.5002T>C (p.Phe1668Leu) c.3066T>C c.4879T>C (p.Phe1627Leu) c.5035T>C (p.Phe1679Leu) | |
12 | g.51806488T>G | CA384882330 | SCN8A | c.5002T>G (p.Phe1668Val) c.3066T>G c.4879T>G (p.Phe1627Val) c.5035T>G (p.Phe1679Val) | |
12 | g.51806489T>A | CA384882332 | SCN8A | c.5003T>A (p.Phe1668Tyr) c.3067T>A c.4880T>A (p.Phe1627Tyr) c.5036T>A (p.Phe1679Tyr) | |
12 | g.51806489T>C | CA384882336 | SCN8A | c.5003T>C (p.Phe1668Ser) c.3067T>C c.4880T>C (p.Phe1627Ser) c.5036T>C (p.Phe1679Ser) | gnomAD v4 |
12 | g.51806489T>G | CA384882338 | SCN8A | c.5003T>G (p.Phe1668Cys) c.3067T>G c.4880T>G (p.Phe1627Cys) c.5036T>G (p.Phe1679Cys) | |
12 | g.51806490T>A | CA384882339 | SCN8A | c.5004T>A (p.Phe1668Leu) c.3068T>A c.4881T>A (p.Phe1627Leu) c.5037T>A (p.Phe1679Leu) | |
12 | g.51806490T>C | CA480061793 | SCN8A | c.5004T>C (p.Phe1668=) c.3068T>C c.4881T>C (p.Phe1627=) c.5037T>C (p.Phe1679=) | |
12 | g.51806490T>G | CA384882340 | SCN8A | c.5004T>G (p.Phe1668Leu) c.3068T>G c.4881T>G (p.Phe1627Leu) c.5037T>G (p.Phe1679Leu) | |
12 | g.51806491G>A | CA384882343 | SCN8A | c.5005G>A (p.Gly1669Arg) c.3069G>A c.4882G>A (p.Gly1628Arg) c.5038G>A (p.Gly1680Arg) | |
12 | g.51806491G>C | CA384882346 | SCN8A | c.5005G>C (p.Gly1669Arg) c.3069G>C c.4882G>C (p.Gly1628Arg) c.5038G>C (p.Gly1680Arg) | |
12 | g.51806491G>T | CA384882348 | SCN8A | c.5005G>T (p.Gly1669Trp) c.3069G>T c.4882G>T (p.Gly1628Trp) c.5038G>T (p.Gly1680Trp) | |
12 | g.51806492G>A | CA384882361 | SCN8A | c.5006G>A (p.Gly1669Glu) c.3070G>A c.4883G>A (p.Gly1628Glu) c.5039G>A (p.Gly1680Glu) | COSMIC COSMIC |
12 | g.51806492G>C | CA384882357 | SCN8A | c.5006G>C (p.Gly1669Ala) c.3070G>C c.4883G>C (p.Gly1628Ala) c.5039G>C (p.Gly1680Ala) | |
12 | g.51806492G>T | CA384882354 | SCN8A | c.5006G>T (p.Gly1669Val) c.3070G>T c.4883G>T (p.Gly1628Val) c.5039G>T (p.Gly1680Val) | |
12 | g.51806493G>A | CA480061795 | SCN8A | c.5007G>A (p.Gly1669=) c.3071G>A c.4884G>A (p.Gly1628=) c.5040G>A (p.Gly1680=) | |
12 | g.51806493G>C | CA6571885 | SCN8A | c.5007G>C (p.Gly1669=) c.3071G>C c.4884G>C (p.Gly1628=) c.5040G>C (p.Gly1680=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806493G= | CA2036193180 | SCN8A | c.5007G= (p.Gly1669=) c.3071G= c.4884G= (p.Gly1628=) c.5040G= (p.Gly1680=) | |
12 | g.51806493G>T | CA480061796 | SCN8A | c.5007G>T (p.Gly1669=) c.3071G>T c.4884G>T (p.Gly1628=) c.5040G>T (p.Gly1680=) | |
12 | g.51806494A>C | CA384882367 | SCN8A | c.5008A>C (p.Met1670Leu) c.3072A>C c.4885A>C (p.Met1629Leu) c.5041A>C (p.Met1681Leu) | |
12 | g.51806494A>G | CA384882371 | SCN8A | c.5008A>G (p.Met1670Val) c.3072A>G c.4885A>G (p.Met1629Val) c.5041A>G (p.Met1681Val) | |
12 | g.51806494A>T | CA384882373 | SCN8A | c.5008A>T (p.Met1670Leu) c.3072A>T c.4885A>T (p.Met1629Leu) c.5041A>T (p.Met1681Leu) | |
12 | g.51806495T>A | CA384882375 | SCN8A | c.5009T>A (p.Met1670Lys) c.3073T>A c.4886T>A (p.Met1629Lys) c.5042T>A (p.Met1681Lys) | |
12 | g.51806495T>C | CA384882376 | SCN8A | c.5009T>C (p.Met1670Thr) c.3073T>C c.4886T>C (p.Met1629Thr) c.5042T>C (p.Met1681Thr) | |
12 | g.51806495T>G | CA384882377 | SCN8A | c.5009T>G (p.Met1670Arg) c.3073T>G c.4886T>G (p.Met1629Arg) c.5042T>G (p.Met1681Arg) | |
12 | g.51806496G>A | CA384882382 | SCN8A | c.5010G>A (p.Met1670Ile) c.3074G>A c.4887G>A (p.Met1629Ile) c.5043G>A (p.Met1681Ile) | |
12 | g.51806496G>C | CA384882385 | SCN8A | c.5010G>C (p.Met1670Ile) c.3074G>C c.4887G>C (p.Met1629Ile) c.5043G>C (p.Met1681Ile) | |
12 | g.51806496G>T | CA384882389 | SCN8A | c.5010G>T (p.Met1670Ile) c.3074G>T c.4887G>T (p.Met1629Ile) c.5043G>T (p.Met1681Ile) | |
12 | g.51806497T>A | CA384882401 | SCN8A | c.5011T>A (p.Ser1671Thr) c.3075T>A c.4888T>A (p.Ser1630Thr) c.5044T>A (p.Ser1682Thr) | |
12 | g.51806497T>C | CA384882404 | SCN8A | c.5011T>C (p.Ser1671Pro) c.3075T>C c.4888T>C (p.Ser1630Pro) c.5044T>C (p.Ser1682Pro) | |
12 | g.51806497T>G | CA384882405 | SCN8A | c.5011T>G (p.Ser1671Ala) c.3075T>G c.4888T>G (p.Ser1630Ala) c.5044T>G (p.Ser1682Ala) | |
12 | g.51806498C>A | CA384882414 | SCN8A | c.5012C>A (p.Ser1671Tyr) c.3076C>A c.4889C>A (p.Ser1630Tyr) c.5045C>A (p.Ser1682Tyr) | |
12 | g.51806498C>G | CA384882406 | SCN8A | c.5012C>G (p.Ser1671Cys) c.3076C>G c.4889C>G (p.Ser1630Cys) c.5045C>G (p.Ser1682Cys) | |
12 | g.51806498C>T | CA384882411 | SCN8A | c.5012C>T (p.Ser1671Phe) c.3076C>T c.4889C>T (p.Ser1630Phe) c.5045C>T (p.Ser1682Phe) | |
12 | g.51806499C>A | CA480061798 | SCN8A | c.5013C>A (p.Ser1671=) c.3077C>A c.4890C>A (p.Ser1630=) c.5046C>A (p.Ser1682=) | |
12 | g.51806499C>G | CA480061799 | SCN8A | c.5013C>G (p.Ser1671=) c.3077C>G c.4890C>G (p.Ser1630=) c.5046C>G (p.Ser1682=) | |
12 | g.51806499C>T | CA480061800 | SCN8A | c.5013C>T (p.Ser1671=) c.3077C>T c.4890C>T (p.Ser1630=) c.5046C>T (p.Ser1682=) | ClinVar gnomAD v4 |
12 | g.51806500A>C | CA384882418 | SCN8A | c.5014A>C (p.Asn1672His) c.3078A>C c.4891A>C (p.Asn1631His) c.5047A>C (p.Asn1683His) | |
12 | g.51806500A>G | CA384882421 | SCN8A | c.5014A>G (p.Asn1672Asp) c.3078A>G c.4891A>G (p.Asn1631Asp) c.5047A>G (p.Asn1683Asp) | |
12 | g.51806500A>T | CA384882422 | SCN8A | c.5014A>T (p.Asn1672Tyr) c.3078A>T c.4891A>T (p.Asn1631Tyr) c.5047A>T (p.Asn1683Tyr) | |
12 | g.51806501A= | CA2036193190 | SCN8A | c.5015A= (p.Asn1672=) c.3079A= c.4892A= (p.Asn1631=) c.5048A= (p.Asn1683=) | |
12 | g.51806501A>C | CA384882427 | SCN8A | c.5015A>C (p.Asn1672Thr) c.3079A>C c.4892A>C (p.Asn1631Thr) c.5048A>C (p.Asn1683Thr) | |
12 | g.51806501A>G | CA384882430 | SCN8A | c.5015A>G (p.Asn1672Ser) c.3079A>G c.4892A>G (p.Asn1631Ser) c.5048A>G (p.Asn1683Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.51806501A>T | CA384882432 | SCN8A | c.5015A>T (p.Asn1672Ile) c.3079A>T c.4892A>T (p.Asn1631Ile) c.5048A>T (p.Asn1683Ile) | |
12 | g.51806502T>A | CA384882435 | SCN8A | c.5016T>A (p.Asn1672Lys) c.3080T>A c.4893T>A (p.Asn1631Lys) c.5049T>A (p.Asn1683Lys) | |
12 | g.51806502T>C | CA480061802 | SCN8A | c.5016T>C (p.Asn1672=) c.3080T>C c.4893T>C (p.Asn1631=) c.5049T>C (p.Asn1683=) | |
12 | g.51806502T>G | CA384882437 | SCN8A | c.5016T>G (p.Asn1672Lys) c.3080T>G c.4893T>G (p.Asn1631Lys) c.5049T>G (p.Asn1683Lys) | |
12 | g.51806503T>A | CA384882441 | SCN8A | c.5017T>A (p.Phe1673Ile) c.3081T>A c.4894T>A (p.Phe1632Ile) c.5050T>A (p.Phe1684Ile) | |
12 | g.51806503T>C | CA384882444 | SCN8A | c.5017T>C (p.Phe1673Leu) c.3081T>C c.4894T>C (p.Phe1632Leu) c.5050T>C (p.Phe1684Leu) | |
12 | g.51806503T>G | CA384882446 | SCN8A | c.5017T>G (p.Phe1673Val) c.3081T>G c.4894T>G (p.Phe1632Val) c.5050T>G (p.Phe1684Val) | |
12 | g.51806504T>A | CA384882455 | SCN8A | c.5018T>A (p.Phe1673Tyr) c.3082T>A c.4895T>A (p.Phe1632Tyr) c.5051T>A (p.Phe1684Tyr) | |
12 | g.51806504T>C | CA384882454 | SCN8A | c.5018T>C (p.Phe1673Ser) c.3082T>C c.4895T>C (p.Phe1632Ser) c.5051T>C (p.Phe1684Ser) | |
12 | g.51806504T>G | CA384882450 | SCN8A | c.5018T>G (p.Phe1673Cys) c.3082T>G c.4895T>G (p.Phe1632Cys) c.5051T>G (p.Phe1684Cys) | gnomAD v4 |
12 | g.51806505T>A | CA384882458 | SCN8A | c.5019T>A (p.Phe1673Leu) c.3083T>A c.4896T>A (p.Phe1632Leu) c.5052T>A (p.Phe1684Leu) | |
12 | g.51806505T>C | CA480061803 | SCN8A | c.5019T>C (p.Phe1673=) c.3083T>C c.4896T>C (p.Phe1632=) c.5052T>C (p.Phe1684=) | |
12 | g.51806505T>G | CA384882461 | SCN8A | c.5019T>G (p.Phe1673Leu) c.3083T>G c.4896T>G (p.Phe1632Leu) c.5052T>G (p.Phe1684Leu) | |
12 | g.51806506G>A | CA384882468 | SCN8A | c.5020G>A (p.Ala1674Thr) c.3084G>A c.4897G>A (p.Ala1633Thr) c.5053G>A (p.Ala1685Thr) | gnomAD v4 |
12 | g.51806506G>C | CA384882473 | SCN8A | c.5020G>C (p.Ala1674Pro) c.3084G>C c.4897G>C (p.Ala1633Pro) c.5053G>C (p.Ala1685Pro) | |
12 | g.51806506G>T | CA384882471 | SCN8A | c.5020G>T (p.Ala1674Ser) c.3084G>T c.4897G>T (p.Ala1633Ser) c.5053G>T (p.Ala1685Ser) | |
12 | g.51806507C>A | CA384882479 | SCN8A | c.5021C>A (p.Ala1674Glu) c.3085C>A c.4898C>A (p.Ala1633Glu) c.5054C>A (p.Ala1685Glu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806507C= | CA2036193198 | SCN8A | c.5021C= (p.Ala1674=) c.3085C= c.4898C= (p.Ala1633=) c.5054C= (p.Ala1685=) | |
12 | g.51806507C>G | CA384882484 | SCN8A | c.5021C>G (p.Ala1674Gly) c.3085C>G c.4898C>G (p.Ala1633Gly) c.5054C>G (p.Ala1685Gly) | |
12 | g.51806507C>T | CA384882480 | SCN8A | c.5021C>T (p.Ala1674Val) c.3085C>T c.4898C>T (p.Ala1633Val) c.5054C>T (p.Ala1685Val) | gnomAD v4 |
12 | g.51806508A>C | CA480061806 | SCN8A | c.5022A>C (p.Ala1674=) c.3086A>C c.4899A>C (p.Ala1633=) c.5055A>C (p.Ala1685=) | |
12 | g.51806508A>G | CA480061807 | SCN8A | c.5022A>G (p.Ala1674=) c.3086A>G c.4899A>G (p.Ala1633=) c.5055A>G (p.Ala1685=) | |
12 | g.51806508A>T | CA480061808 | SCN8A | c.5022A>T (p.Ala1674=) c.3086A>T c.4899A>T (p.Ala1633=) c.5055A>T (p.Ala1685=) | |
12 | g.51806509T>A | CA384882492 | SCN8A | c.5023T>A (p.Tyr1675Asn) c.3087T>A c.4900T>A (p.Tyr1634Asn) c.5056T>A (p.Tyr1686Asn) | |
12 | g.51806509T>C | CA384882493 | SCN8A | c.5023T>C (p.Tyr1675His) c.3087T>C c.4900T>C (p.Tyr1634His) c.5056T>C (p.Tyr1686His) | |
12 | g.51806509T>G | CA384882496 | SCN8A | c.5023T>G (p.Tyr1675Asp) c.3087T>G c.4900T>G (p.Tyr1634Asp) c.5056T>G (p.Tyr1686Asp) | |
12 | g.51806510A>C | CA384882498 | SCN8A | c.5024A>C (p.Tyr1675Ser) c.3088A>C c.4901A>C (p.Tyr1634Ser) c.5057A>C (p.Tyr1686Ser) | |
12 | g.51806510A>G | CA384882501 | SCN8A | c.5024A>G (p.Tyr1675Cys) c.3088A>G c.4901A>G (p.Tyr1634Cys) c.5057A>G (p.Tyr1686Cys) | |
12 | g.51806510A>T | CA384882504 | SCN8A | c.5024A>T (p.Tyr1675Phe) c.3088A>T c.4901A>T (p.Tyr1634Phe) c.5057A>T (p.Tyr1686Phe) | |
12 | g.51806511T>A | CA384882507 | SCN8A | c.5025T>A (p.Tyr1675Ter) c.3089T>A c.4902T>A (p.Tyr1634Ter) c.5058T>A (p.Tyr1686Ter) | ClinVar |
12 | g.51806511T>C | CA480061811 | SCN8A | c.5025T>C (p.Tyr1675=) c.3089T>C c.4902T>C (p.Tyr1634=) c.5058T>C (p.Tyr1686=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806511T>G | CA384882509 | SCN8A | c.5025T>G (p.Tyr1675Ter) c.3089T>G c.4902T>G (p.Tyr1634Ter) c.5058T>G (p.Tyr1686Ter) | |
12 | g.51806511T= | CA2036193201 | SCN8A | c.5025T= (p.Tyr1675=) c.3089T= c.4902T= (p.Tyr1634=) c.5058T= (p.Tyr1686=) | |
12 | g.51806512G>A | CA384882513 | SCN8A | c.5026G>A (p.Val1676Met) c.3090G>A c.4903G>A (p.Val1635Met) c.5059G>A (p.Val1687Met) | gnomAD v4 |
12 | g.51806512G>C | CA384882516 | SCN8A | c.5026G>C (p.Val1676Leu) c.3090G>C c.4903G>C (p.Val1635Leu) c.5059G>C (p.Val1687Leu) | |
12 | g.51806512G>T | CA384882519 | SCN8A | c.5026G>T (p.Val1676Leu) c.3090G>T c.4903G>T (p.Val1635Leu) c.5059G>T (p.Val1687Leu) | |
12 | g.51806513T>A | CA384882524 | SCN8A | c.5027T>A (p.Val1676Glu) c.3091T>A c.4904T>A (p.Val1635Glu) c.5060T>A (p.Val1687Glu) | |
12 | g.51806513T>C | CA384882523 | SCN8A | c.5027T>C (p.Val1676Ala) c.3091T>C c.4904T>C (p.Val1635Ala) c.5060T>C (p.Val1687Ala) | |
12 | g.51806513T>G | CA384882522 | SCN8A | c.5027T>G (p.Val1676Gly) c.3091T>G c.4904T>G (p.Val1635Gly) c.5060T>G (p.Val1687Gly) | |
12 | g.51806514G>A | CA480061815 | SCN8A | c.5028G>A (p.Val1676=) c.3092G>A c.4905G>A (p.Val1635=) c.5061G>A (p.Val1687=) | |
12 | g.51806514G>C | CA480061816 | SCN8A | c.5028G>C (p.Val1676=) c.3092G>C c.4905G>C (p.Val1635=) c.5061G>C (p.Val1687=) | |
12 | g.51806514G>T | CA480061817 | SCN8A | c.5028G>T (p.Val1676=) c.3092G>T c.4905G>T (p.Val1635=) c.5061G>T (p.Val1687=) | |
12 | g.51806515A= | CA2036193205 | SCN8A | c.5029A= (p.Lys1677=) c.3093A= c.4906A= (p.Lys1636=) c.5062A= (p.Lys1688=) | |
12 | g.51806515A>C | CA384882526 | SCN8A | c.5029A>C (p.Lys1677Gln) c.3093A>C c.4906A>C (p.Lys1636Gln) c.5062A>C (p.Lys1688Gln) | |
12 | g.51806515A>G | CA384882527 | SCN8A | c.5029A>G (p.Lys1677Glu) c.3093A>G c.4906A>G (p.Lys1636Glu) c.5062A>G (p.Lys1688Glu) | |
12 | g.51806515A>T | CA384882530 | SCN8A | c.5029A>T (p.Lys1677Ter) c.3093A>T c.4906A>T (p.Lys1636Ter) c.5062A>T (p.Lys1688Ter) | dbSNP |
12 | g.51806516A>C | CA384882536 | SCN8A | c.5030A>C (p.Lys1677Thr) c.3094A>C c.4907A>C (p.Lys1636Thr) c.5063A>C (p.Lys1688Thr) | |
12 | g.51806516A>G | CA384882542 | SCN8A | c.5030A>G (p.Lys1677Arg) c.3094A>G c.4907A>G (p.Lys1636Arg) c.5063A>G (p.Lys1688Arg) | |
12 | g.51806516A>T | CA384882545 | SCN8A | c.5030A>T (p.Lys1677Met) c.3094A>T c.4907A>T (p.Lys1636Met) c.5063A>T (p.Lys1688Met) | |
12 | g.51806517G>A | CA480061819 | SCN8A | c.5031G>A (p.Lys1677=) c.3095G>A c.4908G>A (p.Lys1636=) c.5064G>A (p.Lys1688=) | COSMIC COSMIC |
12 | g.51806517G>C | CA384882548 | SCN8A | c.5031G>C (p.Lys1677Asn) c.3095G>C c.4908G>C (p.Lys1636Asn) c.5064G>C (p.Lys1688Asn) | |
12 | g.51806517G>T | CA384882551 | SCN8A | c.5031G>T (p.Lys1677Asn) c.3095G>T c.4908G>T (p.Lys1636Asn) c.5064G>T (p.Lys1688Asn) | |
12 | g.51806518C>A | CA384882555 | SCN8A | c.5032C>A (p.His1678Asn) c.3096C>A c.4909C>A (p.His1637Asn) c.5065C>A (p.His1689Asn) | |
12 | g.51806518C>G | CA384882556 | SCN8A | c.5032C>G (p.His1678Asp) c.3096C>G c.4909C>G (p.His1637Asp) c.5065C>G (p.His1689Asp) | |
12 | g.51806518C>T | CA384882559 | SCN8A | c.5032C>T (p.His1678Tyr) c.3096C>T c.4909C>T (p.His1637Tyr) c.5065C>T (p.His1689Tyr) | |
12 | g.51806519A>C | CA384882567 | SCN8A | c.5033A>C (p.His1678Pro) c.3097A>C c.4910A>C (p.His1637Pro) c.5066A>C (p.His1689Pro) | |
12 | g.51806519A>G | CA384882566 | SCN8A | c.5033A>G (p.His1678Arg) c.3097A>G c.4910A>G (p.His1637Arg) c.5066A>G (p.His1689Arg) | |
12 | g.51806519A>T | CA384882563 | SCN8A | c.5033A>T (p.His1678Leu) c.3097A>T c.4910A>T (p.His1637Leu) c.5066A>T (p.His1689Leu) | |
12 | g.51806520C>A | CA384882568 | SCN8A | c.5034C>A (p.His1678Gln) c.3098C>A c.4911C>A (p.His1637Gln) c.5067C>A (p.His1689Gln) | dbSNP gnomAD v4 |
12 | g.51806520C= | CA2036193212 | SCN8A | c.5034C= (p.His1678=) c.3098C= c.4911C= (p.His1637=) c.5067C= (p.His1689=) | |
12 | g.51806520C>G | CA384882569 | SCN8A | c.5034C>G (p.His1678Gln) c.3098C>G c.4911C>G (p.His1637Gln) c.5067C>G (p.His1689Gln) | |
12 | g.51806520C>T | CA6571886 | SCN8A | c.5034C>T (p.His1678=) c.3098C>T c.4911C>T (p.His1637=) c.5067C>T (p.His1689=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806521G>A | CA318294 | SCN8A | c.5035G>A (p.Glu1679Lys) c.3099G>A c.4912G>A (p.Glu1638Lys) c.5068G>A (p.Glu1690Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51806521G>C | CA384882581 | SCN8A | c.5035G>C (p.Glu1679Gln) c.3099G>C c.4912G>C (p.Glu1638Gln) c.5068G>C (p.Glu1690Gln) | gnomAD v4 |
12 | g.51806521G= | CA2036193221 | SCN8A | c.5035G= (p.Glu1679=) c.3099G= c.4912G= (p.Glu1638=) c.5068G= (p.Glu1690=) | |
12 | g.51806521G>T | CA384882585 | SCN8A | c.5035G>T (p.Glu1679Ter) c.3099G>T c.4912G>T (p.Glu1638Ter) c.5068G>T (p.Glu1690Ter) | dbSNP |
12 | g.51806522A>C | CA384882589 | SCN8A | c.5036A>C (p.Glu1679Ala) c.3100A>C c.4913A>C (p.Glu1638Ala) c.5069A>C (p.Glu1690Ala) | |
12 | g.51806522A>G | CA384882592 | SCN8A | c.5036A>G (p.Glu1679Gly) c.3100A>G c.4913A>G (p.Glu1638Gly) c.5069A>G (p.Glu1690Gly) | |
12 | g.51806522A>T | CA384882594 | SCN8A | c.5036A>T (p.Glu1679Val) c.3100A>T c.4913A>T (p.Glu1638Val) c.5069A>T (p.Glu1690Val) | |
12 | g.51806523G>A | CA480061828 | SCN8A | c.5037G>A (p.Glu1679=) c.3101G>A c.4914G>A (p.Glu1638=) c.5070G>A (p.Glu1690=) | |
12 | g.51806523G>C | CA384882599 | SCN8A | c.5037G>C (p.Glu1679Asp) c.3101G>C c.4914G>C (p.Glu1638Asp) c.5070G>C (p.Glu1690Asp) | |
12 | g.51806523G>T | CA384882602 | SCN8A | c.5037G>T (p.Glu1679Asp) c.3101G>T c.4914G>T (p.Glu1638Asp) c.5070G>T (p.Glu1690Asp) | |
12 | g.51806524G>A | CA384882627 | SCN8A | c.5038G>A (p.Ala1680Thr) c.3102G>A c.4915G>A (p.Ala1639Thr) c.5071G>A (p.Ala1691Thr) | |
12 | g.51806524G>C | CA384882607 | SCN8A | c.5038G>C (p.Ala1680Pro) c.3102G>C c.4915G>C (p.Ala1639Pro) c.5071G>C (p.Ala1691Pro) | |
12 | g.51806524G>T | CA384882605 | SCN8A | c.5038G>T (p.Ala1680Ser) c.3102G>T c.4915G>T (p.Ala1639Ser) c.5071G>T (p.Ala1691Ser) | |
12 | g.51806525C>A | CA384882631 | SCN8A | c.5039C>A (p.Ala1680Asp) c.3103C>A c.4916C>A (p.Ala1639Asp) c.5072C>A (p.Ala1691Asp) | |
12 | g.51806525C>G | CA384882634 | SCN8A | c.5039C>G (p.Ala1680Gly) c.3103C>G c.4916C>G (p.Ala1639Gly) c.5072C>G (p.Ala1691Gly) | |
12 | g.51806525C>T | CA384882637 | SCN8A | c.5039C>T (p.Ala1680Val) c.3103C>T c.4916C>T (p.Ala1639Val) c.5072C>T (p.Ala1691Val) | |
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.51806536_51806537insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA | CA2846822371 | SCN8A | c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA (p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyGluAsnThrGlyThrGluAlaThrMetLeuMetLeuThrThrAsn) c.3114_3115insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA c.4927_4928insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA (p.Asp1643delinsAlaArgPheTyrSerTrpGlyGluSerGlyGluAsnThrGlyThrGluAlaThrMetLeuMetLeuThrThrAsn) c.5083_5084insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA (p.Asp1695delinsAlaArgPheTyrSerTrpGlyGluSerGlyGluAsnThrGlyThrGluAlaThrMetLeuMetLeuThrThrAsn) | |
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 |