| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51699612A>C | CA385226439 | SCN8A | c.749A>C (p.Lys250Thr) c.*1187A>C (n.*1187A>C) n.877A>C c.299A>C (p.Lys100Thr) | |
| 12 | g.51699612A>G | CA385226438 | SCN8A | c.749A>G (p.Lys250Arg) c.*1187A>G (n.*1187A>G) n.877A>G c.299A>G (p.Lys100Arg) | |
| 12 | g.51699612A>T | CA385226437 | SCN8A | c.749A>T (p.Lys250Ile) c.*1187A>T (n.*1187A>T) n.877A>T c.299A>T (p.Lys100Ile) | |
| 12 | g.51699613A>C | CA385226440 | SCN8A | c.750A>C (p.Lys250Asn) c.*1188A>C (n.*1188A>C) n.878A>C c.300A>C (p.Lys100Asn) | |
| 12 | g.51699613A>G | CA480025505 | SCN8A | c.750A>G (p.Lys250=) c.*1188A>G (n.*1188A>G) n.878A>G c.300A>G (p.Lys100=) | gnomAD v4 |
| 12 | g.51699613A>T | CA385226441 | SCN8A | c.750A>T (p.Lys250Asn) c.*1188A>T (n.*1188A>T) n.878A>T c.300A>T (p.Lys100Asn) | |
| 12 | g.51699614C>A | CA385226442 | SCN8A | c.751C>A (p.Leu251Met) c.*1189C>A (n.*1189C>A) n.879C>A c.301C>A (p.Leu101Met) | |
| 12 | g.51699614C= | CA2036163799 | SCN8A | c.751C= (p.Leu251=) c.*1189C= (n.*1189C=) n.879C= c.301C= (p.Leu101=) | |
| 12 | g.51699614C>G | CA385226443 | SCN8A | c.751C>G (p.Leu251Val) c.*1189C>G (n.*1189C>G) n.879C>G c.301C>G (p.Leu101Val) | ClinVar gnomAD v4 |
| 12 | g.51699614C>T | CA318229 | SCN8A | c.751C>T (p.Leu251=) c.*1189C>T (n.*1189C>T) n.879C>T c.301C>T (p.Leu101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51699615T>A | CA385226444 | SCN8A | c.752T>A (p.Leu251Gln) c.*1190T>A (n.*1190T>A) n.880T>A c.302T>A (p.Leu101Gln) | |
| 12 | g.51699615T>C | CA385226445 | SCN8A | c.752T>C (p.Leu251Pro) c.*1190T>C (n.*1190T>C) n.880T>C c.302T>C (p.Leu101Pro) | |
| 12 | g.51699615T>G | CA385226446 | SCN8A | c.752T>G (p.Leu251Arg) c.*1190T>G (n.*1190T>G) n.880T>G c.302T>G (p.Leu101Arg) | ClinVar dbSNP |
| 12 | g.51699615T= | CA2036163800 | SCN8A | c.752T= (p.Leu251=) c.*1190T= (n.*1190T=) n.880T= c.302T= (p.Leu101=) | |
| 12 | g.51699616G>A | CA480025513 | SCN8A | c.753G>A (p.Leu251=) c.*1191G>A (n.*1191G>A) n.881G>A c.303G>A (p.Leu101=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51699616G>C | CA480025515 | SCN8A | c.753G>C (p.Leu251=) c.*1191G>C (n.*1191G>C) n.881G>C c.303G>C (p.Leu101=) | ClinVar |
| 12 | g.51699616G= | CA2036163801 | SCN8A | c.753G= (p.Leu251=) c.*1191G= (n.*1191G=) n.881G= c.303G= (p.Leu101=) | |
| 12 | g.51699616G>T | CA480025517 | SCN8A | c.753G>T (p.Leu251=) c.*1191G>T (n.*1191G>T) n.881G>T c.303G>T (p.Leu101=) | |
| 12 | g.51699617T>A | CA385226447 | SCN8A | c.754T>A (p.Ser252Thr) c.*1192T>A (n.*1192T>A) n.882T>A c.304T>A (p.Ser102Thr) | |
| 12 | g.51699617T>C | CA385226448 | SCN8A | c.754T>C (p.Ser252Pro) c.*1192T>C (n.*1192T>C) n.882T>C c.304T>C (p.Ser102Pro) | |
| 12 | g.51699617T>G | CA385226449 | SCN8A | c.754T>G (p.Ser252Ala) c.*1192T>G (n.*1192T>G) n.882T>G c.304T>G (p.Ser102Ala) | |
| 12 | g.51699618C>A | CA385226451 | SCN8A | c.755C>A (p.Ser252Ter) c.*1193C>A (n.*1193C>A) n.883C>A c.305C>A (p.Ser102Ter) | |
| 12 | g.51699618C>G | CA385226452 | SCN8A | c.755C>G (p.Ser252Ter) c.*1193C>G (n.*1193C>G) n.883C>G c.305C>G (p.Ser102Ter) | ClinVar |
| 12 | g.51699618C>T | CA385226450 | SCN8A | c.755C>T (p.Ser252Leu) c.*1193C>T (n.*1193C>T) n.883C>T c.305C>T (p.Ser102Leu) | |
| 12 | g.51699619A>C | CA480025524 | SCN8A | c.756A>C (p.Ser252=) c.*1194A>C (n.*1194A>C) n.884A>C c.306A>C (p.Ser102=) | |
| 12 | g.51699619A>G | CA480025525 | SCN8A | c.756A>G (p.Ser252=) c.*1194A>G (n.*1194A>G) n.884A>G c.306A>G (p.Ser102=) | gnomAD v4 |
| 12 | g.51699619A>T | CA480025527 | SCN8A | c.756A>T (p.Ser252=) c.*1194A>T (n.*1194A>T) n.884A>T c.306A>T (p.Ser102=) | |
| 12 | g.51699620G>A | CA385226453 | SCN8A | c.757G>A (p.Asp253Asn) c.*1195G>A (n.*1195G>A) n.885G>A c.307G>A (p.Asp103Asn) | |
| 12 | g.51699620G>C | CA385226454 | SCN8A | c.757G>C (p.Asp253His) c.*1195G>C (n.*1195G>C) n.885G>C c.307G>C (p.Asp103His) | |
| 12 | g.51699620G>T | CA385226455 | SCN8A | c.757G>T (p.Asp253Tyr) c.*1195G>T (n.*1195G>T) n.885G>T c.307G>T (p.Asp103Tyr) | |
| 12 | g.51699621A>C | CA385226456 | SCN8A | c.758A>C (p.Asp253Ala) c.*1196A>C (n.*1196A>C) n.886A>C c.308A>C (p.Asp103Ala) | |
| 12 | g.51699621A>G | CA385226457 | SCN8A | c.758A>G (p.Asp253Gly) c.*1196A>G (n.*1196A>G) n.886A>G c.308A>G (p.Asp103Gly) | |
| 12 | g.51699621A>T | CA385226458 | SCN8A | c.758A>T (p.Asp253Val) c.*1196A>T (n.*1196A>T) n.886A>T c.308A>T (p.Asp103Val) | |
| 12 | g.51699622T>A | CA385226459 | SCN8A | c.759T>A (p.Asp253Glu) c.*1197T>A (n.*1197T>A) n.887T>A c.309T>A (p.Asp103Glu) | |
| 12 | g.51699622T>C | CA480025535 | SCN8A | c.759T>C (p.Asp253=) c.*1197T>C (n.*1197T>C) n.887T>C c.309T>C (p.Asp103=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51699622T>G | CA385226460 | SCN8A | c.759T>G (p.Asp253Glu) c.*1197T>G (n.*1197T>G) n.887T>G c.309T>G (p.Asp103Glu) | |
| 12 | g.51699622T= | CA2036163802 | SCN8A | c.759T= (p.Asp253=) c.*1197T= (n.*1197T=) n.887T= c.309T= (p.Asp103=) | |
| 12 | g.51699623G>A | CA16042903 | SCN8A | c.760G>A (p.Val254Met) c.*1198G>A (n.*1198G>A) n.888G>A c.310G>A (p.Val104Met) | ClinVar dbSNP |
| 12 | g.51699623G>C | CA385226461 | SCN8A | c.760G>C (p.Val254Leu) c.*1198G>C (n.*1198G>C) n.888G>C c.310G>C (p.Val104Leu) | |
| 12 | g.51699623G= | CA2036163803 | SCN8A | c.760G= (p.Val254=) c.*1198G= (n.*1198G=) n.888G= c.310G= (p.Val104=) | |
| 12 | g.51699623G>T | CA385226462 | SCN8A | c.760G>T (p.Val254Leu) c.*1198G>T (n.*1198G>T) n.888G>T c.310G>T (p.Val104Leu) | |
| 12 | g.51699624T>A | CA385226465 | SCN8A | c.761T>A (p.Val254Glu) c.*1199T>A (n.*1199T>A) n.889T>A c.311T>A (p.Val104Glu) | |
| 12 | g.51699624T>C | CA385226464 | SCN8A | c.761T>C (p.Val254Ala) c.*1199T>C (n.*1199T>C) n.889T>C c.311T>C (p.Val104Ala) | |
| 12 | g.51699624T>G | CA385226463 | SCN8A | c.761T>G (p.Val254Gly) c.*1199T>G (n.*1199T>G) n.889T>G c.311T>G (p.Val104Gly) | ClinVar dbSNP |
| 12 | g.51699625G>A | CA480025545 | SCN8A | c.762G>A (p.Val254=) c.*1200G>A (n.*1200G>A) n.890G>A c.312G>A (p.Val104=) | ClinVar dbSNP |
| 12 | g.51699625G>C | CA480025546 | SCN8A | c.762G>C (p.Val254=) c.*1200G>C (n.*1200G>C) n.890G>C c.312G>C (p.Val104=) | |
| 12 | g.51699625G= | CA2036163804 | SCN8A | c.762G= (p.Val254=) c.*1200G= (n.*1200G=) n.890G= c.312G= (p.Val104=) | |
| 12 | g.51699625G>T | CA6571152 | SCN8A | c.762G>T (p.Val254=) c.*1200G>T (n.*1200G>T) n.890G>T c.312G>T (p.Val104=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51699626A>C | CA385226466 | SCN8A | c.763A>C (p.Met255Leu) c.*1201A>C (n.*1201A>C) n.891A>C c.313A>C (p.Met105Leu) | |
| 12 | g.51699626A>G | CA385226467 | SCN8A | c.763A>G (p.Met255Val) c.*1201A>G (n.*1201A>G) n.891A>G c.313A>G (p.Met105Val) | |
| 12 | g.51699626A>T | CA385226468 | SCN8A | c.763A>T (p.Met255Leu) c.*1201A>T (n.*1201A>T) n.891A>T c.313A>T (p.Met105Leu) | |
| 12 | g.51699627T>A | CA385226469 | SCN8A | c.764T>A (p.Met255Lys) c.*1202T>A (n.*1202T>A) n.892T>A c.314T>A (p.Met105Lys) | |
| 12 | g.51699627T>C | CA385226470 | SCN8A | c.764T>C (p.Met255Thr) c.*1202T>C (n.*1202T>C) n.892T>C c.314T>C (p.Met105Thr) | dbSNP |
| 12 | g.51699627T>G | CA385226471 | SCN8A | c.764T>G (p.Met255Arg) c.*1202T>G (n.*1202T>G) n.892T>G c.314T>G (p.Met105Arg) | |
| 12 | g.51699627T= | CA2036163805 | SCN8A | c.764T= (p.Met255=) c.*1202T= (n.*1202T=) n.892T= c.314T= (p.Met105=) | |
| 12 | g.51699628G>A | CA385226472 | SCN8A | c.765G>A (p.Met255Ile) c.*1203G>A (n.*1203G>A) n.893G>A c.315G>A (p.Met105Ile) | |
| 12 | g.51699628G>C | CA385226473 | SCN8A | c.765G>C (p.Met255Ile) c.*1203G>C (n.*1203G>C) n.893G>C c.315G>C (p.Met105Ile) | |
| 12 | g.51699628G= | CA2036163806 | SCN8A | c.765G= (p.Met255=) c.*1203G= (n.*1203G=) n.893G= c.315G= (p.Met105=) | |
| 12 | g.51699628G>T | CA385226474 | SCN8A | c.765G>T (p.Met255Ile) c.*1203G>T (n.*1203G>T) n.893G>T c.315G>T (p.Met105Ile) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51699629A>C | CA385226475 | SCN8A | c.766A>C (p.Ile256Leu) c.*1204A>C (n.*1204A>C) n.894A>C c.316A>C (p.Ile106Leu) | |
| 12 | g.51699629A>G | CA385226476 | SCN8A | c.766A>G (p.Ile256Val) c.*1204A>G (n.*1204A>G) n.894A>G c.316A>G (p.Ile106Val) | |
| 12 | g.51699629A>T | CA385226477 | SCN8A | c.766A>T (p.Ile256Phe) c.*1204A>T (n.*1204A>T) n.894A>T c.316A>T (p.Ile106Phe) | |
| 12 | g.51699630T>A | CA385226479 | SCN8A | c.767T>A (p.Ile256Asn) c.*1205T>A (n.*1205T>A) n.895T>A c.317T>A (p.Ile106Asn) | |
| 12 | g.51699630T>C | CA385226480 | SCN8A | c.767T>C (p.Ile256Thr) c.*1205T>C (n.*1205T>C) n.895T>C c.317T>C (p.Ile106Thr) | |
| 12 | g.51699630T>G | CA385226478 | SCN8A | c.767T>G (p.Ile256Ser) c.*1205T>G (n.*1205T>G) n.895T>G c.317T>G (p.Ile106Ser) | |
| 12 | g.51699631C>A | CA480025560 | SCN8A | c.768C>A (p.Ile256=) c.*1206C>A (n.*1206C>A) n.896C>A c.318C>A (p.Ile106=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51699631C= | CA2036163807 | SCN8A | c.768C= (p.Ile256=) c.*1206C= (n.*1206C=) n.896C= c.318C= (p.Ile106=) | |
| 12 | g.51699631C>G | CA385226481 | SCN8A | c.768C>G (p.Ile256Met) c.*1206C>G (n.*1206C>G) n.896C>G c.318C>G (p.Ile106Met) | |
| 12 | g.51699631C>T | CA480025562 | SCN8A | c.768C>T (p.Ile256=) c.*1206C>T (n.*1206C>T) n.896C>T c.318C>T (p.Ile106=) | gnomAD v4 |
| 12 | g.51699632C>A | CA385226482 | SCN8A | c.769C>A (p.Leu257Met) c.*1207C>A (n.*1207C>A) n.897C>A c.319C>A (p.Leu107Met) | |
| 12 | g.51699632C= | CA2036163808 | SCN8A | c.769C= (p.Leu257=) c.*1207C= (n.*1207C=) n.897C= c.319C= (p.Leu107=) | |
| 12 | g.51699632C>G | CA16619558 | SCN8A | c.769C>G (p.Leu257Val) c.*1207C>G (n.*1207C>G) n.897C>G c.319C>G (p.Leu107Val) | ClinVar dbSNP |
| 12 | g.51699632C>T | CA480025565 | SCN8A | c.769C>T (p.Leu257=) c.*1207C>T (n.*1207C>T) n.897C>T c.319C>T (p.Leu107=) | |
| 12 | g.51699633T>A | CA385226483 | SCN8A | c.770T>A (p.Leu257Gln) c.*1208T>A (n.*1208T>A) n.898T>A c.320T>A (p.Leu107Gln) | |
| 12 | g.51699633T>C | CA385226484 | SCN8A | c.770T>C (p.Leu257Pro) c.*1208T>C (n.*1208T>C) n.898T>C c.320T>C (p.Leu107Pro) | |
| 12 | g.51699633T>G | CA385226485 | SCN8A | c.770T>G (p.Leu257Arg) c.*1208T>G (n.*1208T>G) n.898T>G c.320T>G (p.Leu107Arg) | |
| 12 | g.51699634G>A | CA480025574 | SCN8A | c.771G>A (p.Leu257=) c.*1209G>A (n.*1209G>A) n.899G>A c.321G>A (p.Leu107=) | |
| 12 | g.51699634G>C | CA480025572 | SCN8A | c.771G>C (p.Leu257=) c.*1209G>C (n.*1209G>C) n.899G>C c.321G>C (p.Leu107=) | |
| 12 | g.51699634G>T | CA480025571 | SCN8A | c.771G>T (p.Leu257=) c.*1209G>T (n.*1209G>T) n.899G>T c.321G>T (p.Leu107=) | |
| 12 | g.51699635A>C | CA385226488 | SCN8A | c.772A>C (p.Thr258Pro) c.*1210A>C (n.*1210A>C) n.900A>C c.322A>C (p.Thr108Pro) | |
| 12 | g.51699635A>G | CA385226487 | SCN8A | c.772A>G (p.Thr258Ala) c.*1210A>G (n.*1210A>G) n.900A>G c.322A>G (p.Thr108Ala) | ClinVar gnomAD v4 |
| 12 | g.51699635A>T | CA385226486 | SCN8A | c.772A>T (p.Thr258Ser) c.*1210A>T (n.*1210A>T) n.900A>T c.322A>T (p.Thr108Ser) | |
| 12 | g.51699636C>A | CA385226489 | SCN8A | c.773C>A (p.Thr258Lys) c.*1211C>A (n.*1211C>A) n.901C>A c.323C>A (p.Thr108Lys) | |
| 12 | g.51699636C= | CA2036163809 | SCN8A | c.773C= (p.Thr258=) c.*1211C= (n.*1211C=) n.901C= c.323C= (p.Thr108=) | |
| 12 | g.51699636C>G | CA385226490 | SCN8A | c.773C>G (p.Thr258Arg) c.*1211C>G (n.*1211C>G) n.901C>G c.323C>G (p.Thr108Arg) | |
| 12 | g.51699636C>T | CA385226491 | SCN8A | c.773C>T (p.Thr258Ile) c.*1211C>T (n.*1211C>T) n.901C>T c.323C>T (p.Thr108Ile) | ClinVar dbSNP |
| 12 | g.51699637A>C | CA480025583 | SCN8A | c.774A>C (p.Thr258=) c.*1212A>C (n.*1212A>C) n.902A>C c.324A>C (p.Thr108=) | |
| 12 | g.51699637A>G | CA480025584 | SCN8A | c.774A>G (p.Thr258=) c.*1212A>G (n.*1212A>G) n.902A>G c.324A>G (p.Thr108=) | |
| 12 | g.51699637A>T | CA480025586 | SCN8A | c.774A>T (p.Thr258=) c.*1212A>T (n.*1212A>T) n.902A>T c.324A>T (p.Thr108=) | |
| 12 | g.51699638G>A | CA385226492 | SCN8A | c.775G>A (p.Val259Met) c.*1213G>A (n.*1213G>A) n.903G>A c.325G>A (p.Val109Met) | |
| 12 | g.51699638G>C | CA385226493 | SCN8A | c.775G>C (p.Val259Leu) c.*1213G>C (n.*1213G>C) n.903G>C c.325G>C (p.Val109Leu) | |
| 12 | g.51699638G>T | CA385226494 | SCN8A | c.775G>T (p.Val259Leu) c.*1213G>T (n.*1213G>T) n.903G>T c.325G>T (p.Val109Leu) | |
| 12 | g.51699639T>A | CA385226495 | SCN8A | c.776T>A (p.Val259Glu) c.*1214T>A (n.*1214T>A) n.904T>A c.326T>A (p.Val109Glu) | |
| 12 | g.51699639T>C | CA385226497 | SCN8A | c.776T>C (p.Val259Ala) c.*1214T>C (n.*1214T>C) n.904T>C c.326T>C (p.Val109Ala) | |
| 12 | g.51699639T>G | CA385226496 | SCN8A | c.776T>G (p.Val259Gly) c.*1214T>G (n.*1214T>G) n.904T>G c.326T>G (p.Val109Gly) | |
| 12 | g.51699640G>A | CA480025595 | SCN8A | c.777G>A (p.Val259=) c.*1215G>A (n.*1215G>A) n.905G>A c.327G>A (p.Val109=) | |
| 12 | g.51699640G>C | CA480025599 | SCN8A | c.777G>C (p.Val259=) c.*1215G>C (n.*1215G>C) n.905G>C c.327G>C (p.Val109=) | |
| 12 | g.51699640G>T | CA480025597 | SCN8A | c.777G>T (p.Val259=) c.*1215G>T (n.*1215G>T) n.905G>T c.327G>T (p.Val109=) | COSMIC COSMIC |
| 12 | g.51699641T>A | CA385226498 | SCN8A | c.778T>A (p.Phe260Ile) c.*1216T>A (n.*1216T>A) n.906T>A c.328T>A (p.Phe110Ile) | |
| 12 | g.51699641T>C | CA385226499 | SCN8A | c.778T>C (p.Phe260Leu) c.*1216T>C (n.*1216T>C) n.906T>C c.328T>C (p.Phe110Leu) | |
| 12 | g.51699641T>G | CA385226500 | SCN8A | c.778T>G (p.Phe260Val) c.*1216T>G (n.*1216T>G) n.906T>G c.328T>G (p.Phe110Val) | ClinVar |
| 12 | g.51699642T>A | CA385226501 | SCN8A | c.779T>A (p.Phe260Tyr) c.*1217T>A (n.*1217T>A) n.907T>A c.329T>A (p.Phe110Tyr) | |
| 12 | g.51699642T>C | CA10586288 | SCN8A | c.779T>C (p.Phe260Ser) c.*1217T>C (n.*1217T>C) n.907T>C c.329T>C (p.Phe110Ser) | ClinVar dbSNP |
| 12 | g.51699642T>G | CA385226502 | SCN8A | c.779T>G (p.Phe260Cys) c.*1217T>G (n.*1217T>G) n.907T>G c.329T>G (p.Phe110Cys) | |
| 12 | g.51699642T= | CA2036163810 | SCN8A | c.779T= (p.Phe260=) c.*1217T= (n.*1217T=) n.907T= c.329T= (p.Phe110=) | |
| 12 | g.51699643C>A | CA385226503 | SCN8A | c.780C>A (p.Phe260Leu) c.*1218C>A (n.*1218C>A) n.908C>A c.330C>A (p.Phe110Leu) | |
| 12 | g.51699643C>G | CA385226504 | SCN8A | c.780C>G (p.Phe260Leu) c.*1218C>G (n.*1218C>G) n.908C>G c.330C>G (p.Phe110Leu) | |
| 12 | g.51699643C>T | CA480025608 | SCN8A | c.780C>T (p.Phe260=) c.*1218C>T (n.*1218C>T) n.908C>T c.330C>T (p.Phe110=) | |
| 12 | g.51699644T>A | CA385226505 | SCN8A | c.781T>A (p.Cys261Ser) c.*1219T>A (n.*1219T>A) n.909T>A c.331T>A (p.Cys111Ser) | |
| 12 | g.51699644T>C | CA385226506 | SCN8A | c.781T>C (p.Cys261Arg) c.*1219T>C (n.*1219T>C) n.909T>C c.331T>C (p.Cys111Arg) | |
| 12 | g.51699644T>G | CA385226507 | SCN8A | c.781T>G (p.Cys261Gly) c.*1219T>G (n.*1219T>G) n.909T>G c.331T>G (p.Cys111Gly) | |
| 12 | g.51699645G>A | CA385226510 | SCN8A | c.782G>A (p.Cys261Tyr) c.*1220G>A (n.*1220G>A) n.910G>A c.332G>A (p.Cys111Tyr) | |
| 12 | g.51699645G>C | CA385226509 | SCN8A | c.782G>C (p.Cys261Ser) c.*1220G>C (n.*1220G>C) n.910G>C c.332G>C (p.Cys111Ser) | |
| 12 | g.51699645G>T | CA385226508 | SCN8A | c.782G>T (p.Cys261Phe) c.*1220G>T (n.*1220G>T) n.910G>T c.332G>T (p.Cys111Phe) | |
| 12 | g.51699646C>A | CA385226511 | SCN8A | c.783C>A (p.Cys261Ter) c.*1221C>A (n.*1221C>A) n.911C>A c.333C>A (p.Cys111Ter) | dbSNP |
| 12 | g.51699646C= | CA2036163811 | SCN8A | c.783C= (p.Cys261=) c.*1221C= (n.*1221C=) n.911C= c.333C= (p.Cys111=) | |
| 12 | g.51699646C>G | CA385226512 | SCN8A | c.783C>G (p.Cys261Trp) c.*1221C>G (n.*1221C>G) n.911C>G c.333C>G (p.Cys111Trp) | |
| 12 | g.51699646C>T | CA480025617 | SCN8A | c.783C>T (p.Cys261=) c.*1221C>T (n.*1221C>T) n.911C>T c.333C>T (p.Cys111=) | |
| 12 | g.51699647C>A | CA385226513 | SCN8A | c.784C>A (p.Leu262Met) c.*1222C>A (n.*1222C>A) n.912C>A c.334C>A (p.Leu112Met) | |
| 12 | g.51699647C= | CA2036163812 | SCN8A | c.784C= (p.Leu262=) c.*1222C= (n.*1222C=) n.912C= c.334C= (p.Leu112=) | |
| 12 | g.51699647C>G | CA385226514 | SCN8A | c.784C>G (p.Leu262Val) c.*1222C>G (n.*1222C>G) n.912C>G c.334C>G (p.Leu112Val) | |
| 12 | g.51699647C>T | CA480025622 | SCN8A | c.784C>T (p.Leu262=) c.*1222C>T (n.*1222C>T) n.912C>T c.334C>T (p.Leu112=) | dbSNP |
| 12 | g.51699648T>A | CA385226515 | SCN8A | c.785T>A (p.Leu262Gln) c.*1223T>A (n.*1223T>A) n.913T>A c.335T>A (p.Leu112Gln) | |
| 12 | g.51699648T>C | CA385226516 | SCN8A | c.785T>C (p.Leu262Pro) c.*1223T>C (n.*1223T>C) n.913T>C c.335T>C (p.Leu112Pro) | |
| 12 | g.51699648T>G | CA385226517 | SCN8A | c.785T>G (p.Leu262Arg) c.*1223T>G (n.*1223T>G) n.913T>G c.335T>G (p.Leu112Arg) | |
| 12 | g.51699649G>A | CA480025627 | SCN8A | c.786G>A (p.Leu262=) c.*1224G>A (n.*1224G>A) n.914G>A c.336G>A (p.Leu112=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51699649G>C | CA480025628 | SCN8A | c.786G>C (p.Leu262=) c.*1224G>C (n.*1224G>C) n.914G>C c.336G>C (p.Leu112=) | dbSNP |
| 12 | g.51699649G= | CA2036163813 | SCN8A | c.786G= (p.Leu262=) c.*1224G= (n.*1224G=) n.914G= c.336G= (p.Leu112=) | |
| 12 | g.51699649G>T | CA480025629 | SCN8A | c.786G>T (p.Leu262=) c.*1224G>T (n.*1224G>T) n.914G>T c.336G>T (p.Leu112=) | |
| 12 | g.51699650A>C | CA385226518 | SCN8A | c.787A>C (p.Ser263Arg) c.*1225A>C (n.*1225A>C) n.915A>C c.337A>C (p.Ser113Arg) | |
| 12 | g.51699650A>G | CA385226519 | SCN8A | c.787A>G (p.Ser263Gly) c.*1225A>G (n.*1225A>G) n.915A>G c.337A>G (p.Ser113Gly) | |
| 12 | g.51699650A>T | CA385226520 | SCN8A | c.787A>T (p.Ser263Cys) c.*1225A>T (n.*1225A>T) n.915A>T c.337A>T (p.Ser113Cys) | |
| 12 | g.51699651G>A | CA385226521 | SCN8A | c.788G>A (p.Ser263Asn) c.*1226G>A (n.*1226G>A) n.916G>A c.338G>A (p.Ser113Asn) | |
| 12 | g.51699651G>C | CA385226522 | SCN8A | c.788G>C (p.Ser263Thr) c.*1226G>C (n.*1226G>C) n.916G>C c.338G>C (p.Ser113Thr) | |
| 12 | g.51699651G>T | CA385226523 | SCN8A | c.788G>T (p.Ser263Ile) c.*1226G>T (n.*1226G>T) n.916G>T c.338G>T (p.Ser113Ile) | |
| 12 | g.51699652T>A | CA385226525 | SCN8A | c.789T>A (p.Ser263Arg) c.*1227T>A (n.*1227T>A) n.917T>A c.339T>A (p.Ser113Arg) | |
| 12 | g.51699652T>C | CA480025638 | SCN8A | c.789T>C (p.Ser263=) c.*1227T>C (n.*1227T>C) n.917T>C c.339T>C (p.Ser113=) | gnomAD v4 |
| 12 | g.51699652T>G | CA385226524 | SCN8A | c.789T>G (p.Ser263Arg) c.*1227T>G (n.*1227T>G) n.917T>G c.339T>G (p.Ser113Arg) | |
| 12 | g.51699653G>A | CA385226526 | SCN8A | c.790G>A (p.Val264Ile) c.*1228G>A (n.*1228G>A) n.918G>A c.340G>A (p.Val114Ile) | |
| 12 | g.51699653G>C | CA385226527 | SCN8A | c.790G>C (p.Val264Leu) c.*1228G>C (n.*1228G>C) n.918G>C c.340G>C (p.Val114Leu) | |
| 12 | g.51699653G>T | CA385226528 | SCN8A | c.790G>T (p.Val264Phe) c.*1228G>T (n.*1228G>T) n.918G>T c.340G>T (p.Val114Phe) | ClinVar dbSNP |
| 12 | g.51699654T>A | CA385226529 | SCN8A | c.791T>A (p.Val264Asp) c.*1229T>A (n.*1229T>A) n.919T>A c.341T>A (p.Val114Asp) | |
| 12 | g.51699654T>C | CA385226530 | SCN8A | c.791T>C (p.Val264Ala) c.*1229T>C (n.*1229T>C) n.919T>C c.341T>C (p.Val114Ala) | ClinVar dbSNP |
| 12 | g.51699654T>G | CA385226531 | SCN8A | c.791T>G (p.Val264Gly) c.*1229T>G (n.*1229T>G) n.919T>G c.341T>G (p.Val114Gly) | |
| 12 | g.51699655T>A | CA480025649 | SCN8A | c.792T>A (p.Val264=) c.*1230T>A (n.*1230T>A) n.920T>A c.342T>A (p.Val114=) | |
| 12 | g.51699655T>C | CA480025645 | SCN8A | c.792T>C (p.Val264=) c.*1230T>C (n.*1230T>C) n.920T>C c.342T>C (p.Val114=) | |
| 12 | g.51699655T>G | CA480025646 | SCN8A | c.792T>G (p.Val264=) c.*1230T>G (n.*1230T>G) n.920T>G c.342T>G (p.Val114=) | |
| 12 | g.51699656T>A | CA385226532 | SCN8A | c.793T>A (p.Phe265Ile) c.*1231T>A (n.*1231T>A) n.921T>A c.343T>A (p.Phe115Ile) | |
| 12 | g.51699656T>C | CA385226533 | SCN8A | c.793T>C (p.Phe265Leu) c.*1231T>C (n.*1231T>C) n.921T>C c.343T>C (p.Phe115Leu) | |
| 12 | g.51699656T>G | CA385226534 | SCN8A | c.793T>G (p.Phe265Val) c.*1231T>G (n.*1231T>G) n.921T>G c.343T>G (p.Phe115Val) | |
| 12 | g.51699657T>A | CA385226535 | SCN8A | c.794T>A (p.Phe265Tyr) c.*1232T>A (n.*1232T>A) n.922T>A c.344T>A (p.Phe115Tyr) | |
| 12 | g.51699657T>C | CA385226536 | SCN8A | c.794T>C (p.Phe265Ser) c.*1232T>C (n.*1232T>C) n.922T>C c.344T>C (p.Phe115Ser) | |
| 12 | g.51699657T>G | CA385226537 | SCN8A | c.794T>G (p.Phe265Cys) c.*1232T>G (n.*1232T>G) n.922T>G c.344T>G (p.Phe115Cys) | |
| 12 | g.51699658T>A | CA385226538 | SCN8A | c.795T>A (p.Phe265Leu) c.*1233T>A (n.*1233T>A) n.923T>A c.345T>A (p.Phe115Leu) | |
| 12 | g.51699658T>C | CA480025658 | SCN8A | c.795T>C (p.Phe265=) c.*1233T>C (n.*1233T>C) n.923T>C c.345T>C (p.Phe115=) | dbSNP |
| 12 | g.51699658T>G | CA385226539 | SCN8A | c.795T>G (p.Phe265Leu) c.*1233T>G (n.*1233T>G) n.923T>G c.345T>G (p.Phe115Leu) | |
| 12 | g.51699659G>A | CA385226541 | SCN8A | c.796G>A (p.Ala266Thr) c.*1234G>A (n.*1234G>A) n.924G>A c.346G>A (p.Ala116Thr) | ClinVar dbSNP |
| 12 | g.51699659G>C | CA385226542 | SCN8A | c.796G>C (p.Ala266Pro) c.*1234G>C (n.*1234G>C) n.924G>C c.346G>C (p.Ala116Pro) | |
| 12 | g.51699659G= | CA2036163814 | SCN8A | c.796G= (p.Ala266=) c.*1234G= (n.*1234G=) n.924G= c.346G= (p.Ala116=) | |
| 12 | g.51699659G>T | CA385226540 | SCN8A | c.796G>T (p.Ala266Ser) c.*1234G>T (n.*1234G>T) n.924G>T c.346G>T (p.Ala116Ser) | |
| 12 | g.51699660C>A | CA385226544 | SCN8A | c.797C>A (p.Ala266Asp) c.*1235C>A (n.*1235C>A) n.925C>A c.347C>A (p.Ala116Asp) | |
| 12 | g.51699660C= | CA2036163815 | SCN8A | c.797C= (p.Ala266=) c.*1235C= (n.*1235C=) n.925C= c.347C= (p.Ala116=) | |
| 12 | g.51699660C>G | CA385226543 | SCN8A | c.797C>G (p.Ala266Gly) c.*1235C>G (n.*1235C>G) n.925C>G c.347C>G (p.Ala116Gly) | |
| 12 | g.51699660C>T | CA236262528 | SCN8A | c.797C>T (p.Ala266Val) c.*1235C>T (n.*1235C>T) n.925C>T c.347C>T (p.Ala116Val) | dbSNP |
| 12 | g.51699661C>A | CA480025667 | SCN8A | c.798C>A (p.Ala266=) c.*1236C>A (n.*1236C>A) n.926C>A c.348C>A (p.Ala116=) | |
| 12 | g.51699661C= | CA2036163816 | SCN8A | c.798C= (p.Ala266=) c.*1236C= (n.*1236C=) n.926C= c.348C= (p.Ala116=) | |
| 12 | g.51699661C>G | CA480025669 | SCN8A | c.798C>G (p.Ala266=) c.*1236C>G (n.*1236C>G) n.926C>G c.348C>G (p.Ala116=) | |
| 12 | g.51699661C>T | CA6571153 | SCN8A | c.798C>T (p.Ala266=) c.*1236C>T (n.*1236C>T) n.926C>T c.348C>T (p.Ala116=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51699662T>A | CA385226545 | SCN8A | c.799T>A (p.Leu267Met) c.*1237T>A (n.*1237T>A) n.927T>A c.349T>A (p.Leu117Met) | |
| 12 | g.51699662T>C | CA480025673 | SCN8A | c.799T>C (p.Leu267=) c.*1237T>C (n.*1237T>C) n.927T>C c.349T>C (p.Leu117=) | |
| 12 | g.51699662T>G | CA385226546 | SCN8A | c.799T>G (p.Leu267Val) c.*1237T>G (n.*1237T>G) n.927T>G c.349T>G (p.Leu117Val) | |
| 12 | g.51699663T>A | CA385226547 | SCN8A | c.800T>A (p.Leu267Ter) c.*1238T>A (n.*1238T>A) n.928T>A c.350T>A (p.Leu117Ter) | dbSNP |
| 12 | g.51699663T>C | CA10581564 | SCN8A | c.800T>C (p.Leu267Ser) c.*1238T>C (n.*1238T>C) n.928T>C c.350T>C (p.Leu117Ser) | ClinVar dbSNP |
| 12 | g.51699663T>G | CA385226548 | SCN8A | c.800T>G (p.Leu267Trp) c.*1238T>G (n.*1238T>G) n.928T>G c.350T>G (p.Leu117Trp) | |
| 12 | g.51699663T= | CA2036163817 | SCN8A | c.800T= (p.Leu267=) c.*1238T= (n.*1238T=) n.928T= c.350T= (p.Leu117=) | |
| 12 | g.51699664G>A | CA480025679 | SCN8A | c.801G>A (p.Leu267=) c.*1239G>A (n.*1239G>A) n.929G>A c.351G>A (p.Leu117=) | gnomAD v4 |
| 12 | g.51699664G>C | CA385226549 | SCN8A | c.801G>C (p.Leu267Phe) c.*1239G>C (n.*1239G>C) n.929G>C c.351G>C (p.Leu117Phe) | |
| 12 | g.51699664G>T | CA385226550 | SCN8A | c.801G>T (p.Leu267Phe) c.*1239G>T (n.*1239G>T) n.929G>T c.351G>T (p.Leu117Phe) | |
| 12 | g.51699665A= | CA2036163818 | SCN8A | c.802A= (p.Ile268=) c.*1240A= (n.*1240A=) n.930A= c.352A= (p.Ile118=) | |
| 12 | g.51699665A>C | CA385226551 | SCN8A | c.802A>C (p.Ile268Leu) c.*1240A>C (n.*1240A>C) n.930A>C c.352A>C (p.Ile118Leu) | ClinVar dbSNP |
| 12 | g.51699665A>G | CA385226552 | SCN8A | c.802A>G (p.Ile268Val) c.*1240A>G (n.*1240A>G) n.930A>G c.352A>G (p.Ile118Val) | |
| 12 | g.51699665A>T | CA385226553 | SCN8A | c.802A>T (p.Ile268Phe) c.*1240A>T (n.*1240A>T) n.930A>T c.352A>T (p.Ile118Phe) | ClinVar dbSNP |
| 12 | g.51699666T>A | CA385226554 | SCN8A | c.803T>A (p.Ile268Asn) c.*1241T>A (n.*1241T>A) n.931T>A c.353T>A (p.Ile118Asn) | |
| 12 | g.51699666T>C | CA385226555 | SCN8A | c.803T>C (p.Ile268Thr) c.*1241T>C (n.*1241T>C) n.931T>C c.353T>C (p.Ile118Thr) | |
| 12 | g.51699666T>G | CA385226556 | SCN8A | c.803T>G (p.Ile268Ser) c.*1241T>G (n.*1241T>G) n.931T>G c.353T>G (p.Ile118Ser) | |
| 12 | g.51699667C>A | CA480025687 | SCN8A | c.804C>A (p.Ile268=) c.*1242C>A (n.*1242C>A) n.932C>A c.354C>A (p.Ile118=) | gnomAD v4 |
| 12 | g.51699667C= | CA2036163819 | SCN8A | c.804C= (p.Ile268=) c.*1242C= (n.*1242C=) n.932C= c.354C= (p.Ile118=) | |
| 12 | g.51699667C>G | CA385226557 | SCN8A | c.804C>G (p.Ile268Met) c.*1242C>G (n.*1242C>G) n.932C>G c.354C>G (p.Ile118Met) | |
| 12 | g.51699667C>T | CA6571154 | SCN8A | c.804C>T (p.Ile268=) c.*1242C>T (n.*1242C>T) n.932C>T c.354C>T (p.Ile118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51699668G>A | CA385226558 | SCN8A | c.805G>A (p.Gly269Arg) c.*1243G>A (n.*1243G>A) n.933G>A c.355G>A (p.Gly119Arg) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51699668G>C | CA385226559 | SCN8A | c.805G>C (p.Gly269Arg) c.*1243G>C (n.*1243G>C) n.933G>C c.355G>C (p.Gly119Arg) | |
| 12 | g.51699668G= | CA2036163820 | SCN8A | c.805G= (p.Gly269=) c.*1243G= (n.*1243G=) n.933G= c.355G= (p.Gly119=) | |
| 12 | g.51699668G>T | CA385226560 | SCN8A | c.805G>T (p.Gly269Ter) c.*1243G>T (n.*1243G>T) n.933G>T c.355G>T (p.Gly119Ter) | dbSNP |
| 12 | g.51699669G>A | CA385226561 | SCN8A | c.806G>A (p.Gly269Glu) c.*1244G>A (n.*1244G>A) n.934G>A c.356G>A (p.Gly119Glu) | |
| 12 | g.51699669G>C | CA385226562 | SCN8A | c.806G>C (p.Gly269Ala) c.*1244G>C (n.*1244G>C) n.934G>C c.356G>C (p.Gly119Ala) | |
| 12 | g.51699669G>T | CA385226563 | SCN8A | c.806G>T (p.Gly269Val) c.*1244G>T (n.*1244G>T) n.934G>T c.356G>T (p.Gly119Val) | |
| 12 | g.51699670A>C | CA480025701 | SCN8A | c.807A>C (p.Gly269=) c.*1245A>C (n.*1245A>C) n.935A>C c.357A>C (p.Gly119=) | |
| 12 | g.51699670A>G | CA480025703 | SCN8A | c.807A>G (p.Gly269=) c.*1245A>G (n.*1245A>G) n.935A>G c.357A>G (p.Gly119=) | |
| 12 | g.51699670A>T | CA480025704 | SCN8A | c.807A>T (p.Gly269=) c.*1245A>T (n.*1245A>T) n.935A>T c.357A>T (p.Gly119=) | |
| 12 | g.51699671C>A | CA385226564 | SCN8A | c.808C>A (p.Leu270Met) c.*1246C>A (n.*1246C>A) n.936C>A c.358C>A (p.Leu120Met) | |
| 12 | g.51699671C>G | CA385226565 | SCN8A | c.808C>G (p.Leu270Val) c.*1246C>G (n.*1246C>G) n.936C>G c.358C>G (p.Leu120Val) | |
| 12 | g.51699671C>T | CA480025708 | SCN8A | c.808C>T (p.Leu270=) c.*1246C>T (n.*1246C>T) n.936C>T c.358C>T (p.Leu120=) | |
| 12 | g.51699672T>A | CA385226566 | SCN8A | c.809T>A (p.Leu270Gln) c.*1247T>A (n.*1247T>A) n.937T>A c.359T>A (p.Leu120Gln) | gnomAD v4 |
| 12 | g.51699672T>C | CA385226567 | SCN8A | c.809T>C (p.Leu270Pro) c.*1247T>C (n.*1247T>C) n.937T>C c.359T>C (p.Leu120Pro) | |
| 12 | g.51699672T>G | CA385226568 | SCN8A | c.809T>G (p.Leu270Arg) c.*1247T>G (n.*1247T>G) n.937T>G c.359T>G (p.Leu120Arg) | |
| 12 | g.51699673G>A | CA6571155 | SCN8A | c.810G>A (p.Leu270=) c.*1248G>A (n.*1248G>A) n.938G>A c.360G>A (p.Leu120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51699673G>C | CA480025715 | SCN8A | c.810G>C (p.Leu270=) c.*1248G>C (n.*1248G>C) n.938G>C c.360G>C (p.Leu120=) | |
| 12 | g.51699673G= | CA2036163821 | SCN8A | c.810G= (p.Leu270=) c.*1248G= (n.*1248G=) n.938G= c.360G= (p.Leu120=) | |
| 12 | g.51699673G>T | CA480025716 | SCN8A | c.810G>T (p.Leu270=) c.*1248G>T (n.*1248G>T) n.938G>T c.360G>T (p.Leu120=) | |
| 12 | g.51699674C>A | CA385226569 | SCN8A | c.811C>A (p.Gln271Lys) c.*1249C>A (n.*1249C>A) n.939C>A c.361C>A (p.Gln121Lys) | |
| 12 | g.51699674C>G | CA385226571 | SCN8A | c.811C>G (p.Gln271Glu) c.*1249C>G (n.*1249C>G) n.939C>G c.361C>G (p.Gln121Glu) | |
| 12 | g.51699674C>T | CA385226570 | SCN8A | c.811C>T (p.Gln271Ter) c.*1249C>T (n.*1249C>T) n.939C>T c.361C>T (p.Gln121Ter) | ClinVar |
| 12 | g.51699675A>C | CA385226572 | SCN8A | c.812A>C (p.Gln271Pro) c.*1250A>C (n.*1250A>C) n.940A>C c.362A>C (p.Gln121Pro) | |
| 12 | g.51699675A>G | CA385226573 | SCN8A | c.812A>G (p.Gln271Arg) c.*1250A>G (n.*1250A>G) n.940A>G c.362A>G (p.Gln121Arg) | |
| 12 | g.51699675A>T | CA385226574 | SCN8A | c.812A>T (p.Gln271Leu) c.*1250A>T (n.*1250A>T) n.940A>T c.362A>T (p.Gln121Leu) | |
| 12 | g.51699676G>A | CA6571156 | SCN8A | c.813G>A (p.Gln271=) c.*1251G>A (n.*1251G>A) n.941G>A c.363G>A (p.Gln121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51699676G>C | CA385226575 | SCN8A | c.813G>C (p.Gln271His) c.*1251G>C (n.*1251G>C) n.941G>C c.363G>C (p.Gln121His) | ClinVar |
| 12 | g.51699676G= | CA2036163822 | SCN8A | c.813G= (p.Gln271=) c.*1251G= (n.*1251G=) n.941G= c.363G= (p.Gln121=) | |
| 12 | g.51699676G>T | CA385226576 | SCN8A | c.813G>T (p.Gln271His) c.*1251G>T (n.*1251G>T) n.941G>T c.363G>T (p.Gln121His) | |
| 12 | g.51699677C>A | CA385226577 | SCN8A | c.814C>A (p.Leu272Met) c.*1252C>A (n.*1252C>A) n.942C>A c.364C>A (p.Leu122Met) | |
| 12 | g.51699677C= | CA2036163823 | SCN8A | c.814C= (p.Leu272=) c.*1252C= (n.*1252C=) n.942C= c.364C= (p.Leu122=) | |
| 12 | g.51699677C>G | CA385226578 | SCN8A | c.814C>G (p.Leu272Val) c.*1252C>G (n.*1252C>G) n.942C>G c.364C>G (p.Leu122Val) | |
| 12 | g.51699677C>T | CA6571157 | SCN8A | c.814C>T (p.Leu272=) c.*1252C>T (n.*1252C>T) n.942C>T c.364C>T (p.Leu122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51699678T>A | CA385226579 | SCN8A | c.815T>A (p.Leu272Gln) c.*1253T>A (n.*1253T>A) n.943T>A c.365T>A (p.Leu122Gln) | |
| 12 | g.51699678T>C | CA385226580 | SCN8A | c.815T>C (p.Leu272Pro) c.*1253T>C (n.*1253T>C) n.943T>C c.365T>C (p.Leu122Pro) | |
| 12 | g.51699678T>G | CA385226581 | SCN8A | c.815T>G (p.Leu272Arg) c.*1253T>G (n.*1253T>G) n.943T>G c.365T>G (p.Leu122Arg) | |
| 12 | g.51699679G>A | CA480025732 | SCN8A | c.816G>A (p.Leu272=) c.*1254G>A (n.*1254G>A) n.944G>A c.366G>A (p.Leu122=) | dbSNP gnomAD v4 |
| 12 | g.51699679G>C | CA480025734 | SCN8A | c.816G>C (p.Leu272=) c.*1254G>C (n.*1254G>C) n.944G>C c.366G>C (p.Leu122=) | gnomAD v4 |
| 12 | g.51699679G= | CA2036163824 | SCN8A | c.816G= (p.Leu272=) c.*1254G= (n.*1254G=) n.944G= c.366G= (p.Leu122=) | |
| 12 | g.51699679G>T | CA480025736 | SCN8A | c.816G>T (p.Leu272=) c.*1254G>T (n.*1254G>T) n.944G>T c.366G>T (p.Leu122=) | |
| 12 | g.51699680T>A | CA385226583 | SCN8A | c.817T>A (p.Phe273Ile) c.*1255T>A (n.*1255T>A) n.945T>A c.367T>A (p.Phe123Ile) | |
| 12 | g.51699680T>C | CA318319 | SCN8A | c.817T>C (p.Phe273Leu) c.*1255T>C (n.*1255T>C) n.945T>C c.367T>C (p.Phe123Leu) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51699680T>G | CA385226582 | SCN8A | c.817T>G (p.Phe273Val) c.*1255T>G (n.*1255T>G) n.945T>G c.367T>G (p.Phe123Val) | |
| 12 | g.51699680T= | CA2036163825 | SCN8A | c.817T= (p.Phe273=) c.*1255T= (n.*1255T=) n.945T= c.367T= (p.Phe123=) | |
| 12 | g.51699681T>A | CA385226584 | SCN8A | c.818T>A (p.Phe273Tyr) c.*1256T>A (n.*1256T>A) n.946T>A c.368T>A (p.Phe123Tyr) | |
| 12 | g.51699681T>C | CA385226585 | SCN8A | c.818T>C (p.Phe273Ser) c.*1256T>C (n.*1256T>C) n.946T>C c.368T>C (p.Phe123Ser) | |
| 12 | g.51699681T>G | CA385226586 | SCN8A | c.818T>G (p.Phe273Cys) c.*1256T>G (n.*1256T>G) n.946T>G c.368T>G (p.Phe123Cys) | |
| 12 | g.51699682C>A | CA385226587 | SCN8A | c.819C>A (p.Phe273Leu) c.*1257C>A (n.*1257C>A) n.947C>A c.369C>A (p.Phe123Leu) | |
| 12 | g.51699682C>G | CA385226588 | SCN8A | c.819C>G (p.Phe273Leu) c.*1257C>G (n.*1257C>G) n.947C>G c.369C>G (p.Phe123Leu) | |
| 12 | g.51699682C>T | CA480025742 | SCN8A | c.819C>T (p.Phe273=) c.*1257C>T (n.*1257C>T) n.947C>T c.369C>T (p.Phe123=) | |
| 12 | g.51699683A= | CA2036163826 | SCN8A | c.820A= (p.Met274=) c.*1258A= (n.*1258A=) n.948A= c.370A= (p.Met124=) | |
| 12 | g.51699683A>C | CA385226589 | SCN8A | c.820A>C (p.Met274Leu) c.*1258A>C (n.*1258A>C) n.948A>C c.370A>C (p.Met124Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51699683A>G | CA385226590 | SCN8A | c.820A>G (p.Met274Val) c.*1258A>G (n.*1258A>G) n.948A>G c.370A>G (p.Met124Val) | |
| 12 | g.51699683A>T | CA385226591 | SCN8A | c.820A>T (p.Met274Leu) c.*1258A>T (n.*1258A>T) n.948A>T c.370A>T (p.Met124Leu) | |
| 12 | g.51699684T>A | CA385226592 | SCN8A | c.821T>A (p.Met274Lys) c.*1259T>A (n.*1259T>A) n.949T>A c.371T>A (p.Met124Lys) | |
| 12 | g.51699684T>C | CA385226593 | SCN8A | c.821T>C (p.Met274Thr) c.*1259T>C (n.*1259T>C) n.949T>C c.371T>C (p.Met124Thr) | |
| 12 | g.51699684T>G | CA385226594 | SCN8A | c.821T>G (p.Met274Arg) c.*1259T>G (n.*1259T>G) n.949T>G c.371T>G (p.Met124Arg) | |
| 12 | g.51699685G>A | CA385226596 | SCN8A | c.822G>A (p.Met274Ile) c.*1260G>A (n.*1260G>A) n.950G>A c.372G>A (p.Met124Ile) | |
| 12 | g.51699685G>C | CA385226597 | SCN8A | c.822G>C (p.Met274Ile) c.*1260G>C (n.*1260G>C) n.950G>C c.372G>C (p.Met124Ile) | |
| 12 | g.51699685G>T | CA385226595 | SCN8A | c.822G>T (p.Met274Ile) c.*1260G>T (n.*1260G>T) n.950G>T c.372G>T (p.Met124Ile) | |
| 12 | g.51699688del | CA2573053696 | SCN8A | c.825del (p.Asn276ThrfsTer11) c.*1263del (n.*1263del) n.953del c.375del (p.Asn126ThrfsTer11) | ClinVar dbSNP |
| 12 | g.51699686G>A | CA385226600 | SCN8A | c.823G>A (p.Gly275Arg) c.*1261G>A (n.*1261G>A) n.951G>A c.373G>A (p.Gly125Arg) | |
| 12 | g.51699686G>C | CA385226598 | SCN8A | c.823G>C (p.Gly275Arg) c.*1261G>C (n.*1261G>C) n.951G>C c.373G>C (p.Gly125Arg) | |
| 12 | g.51699686G>T | CA385226599 | SCN8A | c.823G>T (p.Gly275Trp) c.*1261G>T (n.*1261G>T) n.951G>T c.373G>T (p.Gly125Trp) | |
| 12 | g.51699687G>A | CA385226601 | SCN8A | c.824G>A (p.Gly275Glu) c.*1262G>A (n.*1262G>A) n.952G>A c.374G>A (p.Gly125Glu) | |
| 12 | g.51699687G>C | CA385226602 | SCN8A | c.824G>C (p.Gly275Ala) c.*1262G>C (n.*1262G>C) n.952G>C c.374G>C (p.Gly125Ala) | |
| 12 | g.51699687G>T | CA385226603 | SCN8A | c.824G>T (p.Gly275Val) c.*1262G>T (n.*1262G>T) n.952G>T c.374G>T (p.Gly125Val) | |
| 12 | g.51699688G>A | CA480025758 | SCN8A | c.825G>A (p.Gly275=) c.*1263G>A (n.*1263G>A) n.953G>A c.375G>A (p.Gly125=) | |
| 12 | g.51699688G>C | CA480025762 | SCN8A | c.825G>C (p.Gly275=) c.*1263G>C (n.*1263G>C) n.953G>C c.375G>C (p.Gly125=) | |
| 12 | g.51699688G>T | CA480025760 | SCN8A | c.825G>T (p.Gly275=) c.*1263G>T (n.*1263G>T) n.953G>T c.375G>T (p.Gly125=) | |
| 12 | g.51699689A>C | CA385226604 | SCN8A | c.826A>C (p.Asn276His) c.*1264A>C (n.*1264A>C) n.954A>C c.376A>C (p.Asn126His) | |
| 12 | g.51699689A>G | CA385226605 | SCN8A | c.826A>G (p.Asn276Asp) c.*1264A>G (n.*1264A>G) n.954A>G c.376A>G (p.Asn126Asp) | ClinVar |
| 12 | g.51699689A>T | CA385226606 | SCN8A | c.826A>T (p.Asn276Tyr) c.*1264A>T (n.*1264A>T) n.954A>T c.376A>T (p.Asn126Tyr) | |
| 12 | g.51699690A= | CA2036163827 | SCN8A | c.827A= (p.Asn276=) c.*1265A= (n.*1265A=) n.955A= c.377A= (p.Asn126=) | |
| 12 | g.51699690A>C | CA385226607 | SCN8A | c.827A>C (p.Asn276Thr) c.*1265A>C (n.*1265A>C) n.955A>C c.377A>C (p.Asn126Thr) | |
| 12 | g.51699690A>G | CA385226608 | SCN8A | c.827A>G (p.Asn276Ser) c.*1265A>G (n.*1265A>G) n.955A>G c.377A>G (p.Asn126Ser) | dbSNP gnomAD v4 |
| 12 | g.51699690A>T | CA385226609 | SCN8A | c.827A>T (p.Asn276Ile) c.*1265A>T (n.*1265A>T) n.955A>T c.377A>T (p.Asn126Ile) | |
| 12 | g.51699691C>A | CA385226610 | SCN8A | c.828C>A (p.Asn276Lys) c.*1266C>A (n.*1266C>A) n.956C>A c.378C>A (p.Asn126Lys) | ClinVar dbSNP |
| 12 | g.51699691C>G | CA385226611 | SCN8A | c.828C>G (p.Asn276Lys) c.*1266C>G (n.*1266C>G) n.956C>G c.378C>G (p.Asn126Lys) | ClinVar |
| 12 | g.51699691C>T | CA480025771 | SCN8A | c.828C>T (p.Asn276=) c.*1266C>T (n.*1266C>T) n.956C>T c.378C>T (p.Asn126=) | |
| 12 | g.51699692C>A | CA385226612 | SCN8A | c.829C>A (p.Leu277Ile) c.*1267C>A (n.*1267C>A) n.957C>A c.379C>A (p.Leu127Ile) | |
| 12 | g.51699692C>G | CA385226614 | SCN8A | c.829C>G (p.Leu277Val) c.*1267C>G (n.*1267C>G) n.957C>G c.379C>G (p.Leu127Val) | |
| 12 | g.51699692C>T | CA385226613 | SCN8A | c.829C>T (p.Leu277Phe) c.*1267C>T (n.*1267C>T) n.957C>T c.379C>T (p.Leu127Phe) | |
| 12 | g.51699693T>A | CA385226615 | SCN8A | c.830T>A (p.Leu277His) c.*1268T>A (n.*1268T>A) n.958T>A c.380T>A (p.Leu127His) | |
| 12 | g.51699693T>C | CA385226616 | SCN8A | c.830T>C (p.Leu277Pro) c.*1268T>C (n.*1268T>C) n.958T>C c.380T>C (p.Leu127Pro) | |
| 12 | g.51699693T>G | CA385226617 | SCN8A | c.830T>G (p.Leu277Arg) c.*1268T>G (n.*1268T>G) n.958T>G c.380T>G (p.Leu127Arg) | |
| 12 | g.51699694T>A | CA480025779 | SCN8A | c.831T>A (p.Leu277=) c.*1269T>A (n.*1269T>A) n.959T>A c.381T>A (p.Leu127=) | |
| 12 | g.51699694T>C | CA480025782 | SCN8A | c.831T>C (p.Leu277=) c.*1269T>C (n.*1269T>C) n.959T>C c.381T>C (p.Leu127=) | |
| 12 | g.51699694T>G | CA480025784 | SCN8A | c.831T>G (p.Leu277=) c.*1269T>G (n.*1269T>G) n.959T>G c.381T>G (p.Leu127=) | |
| 12 | g.51699695C>A | CA480025786 | SCN8A | c.832C>A (p.Arg278=) c.*1270C>A (n.*1270C>A) n.960C>A c.382C>A (p.Arg128=) | |
| 12 | g.51699695C= | CA2036163828 | SCN8A | c.832C= (p.Arg278=) c.*1270C= (n.*1270C=) n.960C= c.382C= (p.Arg128=) | |
| 12 | g.51699695C>G | CA385226618 | SCN8A | c.832C>G (p.Arg278Gly) c.*1270C>G (n.*1270C>G) n.960C>G c.382C>G (p.Arg128Gly) | |
| 12 | g.51699695C>T | CA385226619 | SCN8A | c.832C>T (p.Arg278Ter) c.*1270C>T (n.*1270C>T) n.960C>T c.382C>T (p.Arg128Ter) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51699696G>A | CA385226620 | SCN8A | c.833G>A (p.Arg278Gln) c.*1271G>A (n.*1271G>A) n.961G>A c.383G>A (p.Arg128Gln) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51699696G>C | CA385226621 | SCN8A | c.833G>C (p.Arg278Pro) c.*1271G>C (n.*1271G>C) n.961G>C c.383G>C (p.Arg128Pro) | |
| 12 | g.51699696G= | CA2036163829 | SCN8A | c.833G= (p.Arg278=) c.*1271G= (n.*1271G=) n.961G= c.383G= (p.Arg128=) | |
| 12 | g.51699696G>T | CA385226622 | SCN8A | c.833G>T (p.Arg278Leu) c.*1271G>T (n.*1271G>T) n.961G>T c.383G>T (p.Arg128Leu) | |
| 12 | g.51699697A>C | CA480025793 | SCN8A | c.834A>C (p.Arg278=) c.*1272A>C (n.*1272A>C) n.962A>C c.384A>C (p.Arg128=) | |
| 12 | g.51699697A>G | CA480025794 | SCN8A | c.834A>G (p.Arg278=) c.*1272A>G (n.*1272A>G) n.962A>G c.384A>G (p.Arg128=) | |
| 12 | g.51699697A>T | CA480025797 | SCN8A | c.834A>T (p.Arg278=) c.*1272A>T (n.*1272A>T) n.962A>T c.384A>T (p.Arg128=) | |
| 12 | g.51699698A>C | CA385226623 | SCN8A | c.835A>C (p.Asn279His) c.*1273A>C (n.*1273A>C) n.963A>C c.385A>C (p.Asn129His) | |
| 12 | g.51699698A>G | CA385226624 | SCN8A | c.835A>G (p.Asn279Asp) c.*1273A>G (n.*1273A>G) n.963A>G c.385A>G (p.Asn129Asp) | |
| 12 | g.51699698A>T | CA385226625 | SCN8A | c.835A>T (p.Asn279Tyr) c.*1273A>T (n.*1273A>T) n.963A>T c.385A>T (p.Asn129Tyr) | |
| 12 | g.51699699A>C | CA385226627 | SCN8A | c.836A>C (p.Asn279Thr) c.*1274A>C (n.*1274A>C) n.964A>C c.386A>C (p.Asn129Thr) | |
| 12 | g.51699699A>G | CA385226628 | SCN8A | c.836A>G (p.Asn279Ser) c.*1274A>G (n.*1274A>G) n.964A>G c.386A>G (p.Asn129Ser) | |
| 12 | g.51699699A>T | CA385226626 | SCN8A | c.836A>T (p.Asn279Ile) c.*1274A>T (n.*1274A>T) n.964A>T c.386A>T (p.Asn129Ile) | |
| 12 | g.51699700C>A | CA385226629 | SCN8A | c.837C>A (p.Asn279Lys) c.*1275C>A (n.*1275C>A) n.965C>A c.387C>A (p.Asn129Lys) | |
| 12 | g.51699700C>G | CA385226630 | SCN8A | c.837C>G (p.Asn279Lys) c.*1275C>G (n.*1275C>G) n.965C>G c.387C>G (p.Asn129Lys) | |
| 12 | g.51699700C>T | CA480025807 | SCN8A | c.837C>T (p.Asn279=) c.*1275C>T (n.*1275C>T) n.965C>T c.387C>T (p.Asn129=) | |
| 12 | g.51699701A= | CA2036163830 | SCN8A | c.838A= (p.Lys280=) c.*1276A= (n.*1276A=) n.966A= c.388A= (p.Lys130=) | |
| 12 | g.51699701A>C | CA385226631 | SCN8A | c.838A>C (p.Lys280Gln) c.*1276A>C (n.*1276A>C) n.966A>C c.388A>C (p.Lys130Gln) | |
| 12 | g.51699701A>G | CA385226632 | SCN8A | c.838A>G (p.Lys280Glu) c.*1276A>G (n.*1276A>G) n.966A>G c.388A>G (p.Lys130Glu) | |
| 12 | g.51699701A>T | CA385226633 | SCN8A | c.838A>T (p.Lys280Ter) c.*1276A>T (n.*1276A>T) n.966A>T c.388A>T (p.Lys130Ter) | dbSNP |
| 12 | g.51699702A>C | CA385226634 | SCN8A | c.839A>C (p.Lys280Thr) c.*1277A>C (n.*1277A>C) n.967A>C c.389A>C (p.Lys130Thr) | |
| 12 | g.51699702A>G | CA385226635 | SCN8A | c.839A>G (p.Lys280Arg) c.*1277A>G (n.*1277A>G) n.967A>G c.389A>G (p.Lys130Arg) | |
| 12 | g.51699702A>T | CA385226636 | SCN8A | c.839A>T (p.Lys280Met) c.*1277A>T (n.*1277A>T) n.967A>T c.389A>T (p.Lys130Met) | |
| 12 | g.51699703G>A | CA480025815 | SCN8A | c.840G>A (p.Lys280=) c.*1278G>A (n.*1278G>A) n.968G>A c.390G>A (p.Lys130=) | ClinVar |
| 12 | g.51699703G>C | CA385226637 | SCN8A | c.840G>C (p.Lys280Asn) c.*1278G>C (n.*1278G>C) n.968G>C c.390G>C (p.Lys130Asn) | |
| 12 | g.51699703G>T | CA385226638 | SCN8A | c.840G>T (p.Lys280Asn) c.*1278G>T (n.*1278G>T) n.968G>T c.390G>T (p.Lys130Asn) | |
| 12 | g.51699707_51699708del | CA2580615195 | SCN8A | c.844_845del (p.Val282CysfsTer12) c.*1282_*1283del (n.*1282_*1283del) n.972_973del c.394_395del (p.Val132CysfsTer12) | ClinVar |
| 12 | g.51699704T>A | CA385226639 | SCN8A | c.841T>A (p.Cys281Ser) c.*1279T>A (n.*1279T>A) n.969T>A c.391T>A (p.Cys131Ser) | |
| 12 | g.51699704T>C | CA385226640 | SCN8A | c.841T>C (p.Cys281Arg) c.*1279T>C (n.*1279T>C) n.969T>C c.391T>C (p.Cys131Arg) | |
| 12 | g.51699704T>G | CA385226641 | SCN8A | c.841T>G (p.Cys281Gly) c.*1279T>G (n.*1279T>G) n.969T>G c.391T>G (p.Cys131Gly) | |
| 12 | g.51699705G>A | CA385226644 | SCN8A | c.842G>A (p.Cys281Tyr) c.*1280G>A (n.*1280G>A) n.970G>A c.392G>A (p.Cys131Tyr) | |
| 12 | g.51699705G>C | CA385226643 | SCN8A | c.842G>C (p.Cys281Ser) c.*1280G>C (n.*1280G>C) n.970G>C c.392G>C (p.Cys131Ser) | |
| 12 | g.51699705G>T | CA385226642 | SCN8A | c.842G>T (p.Cys281Phe) c.*1280G>T (n.*1280G>T) n.970G>T c.392G>T (p.Cys131Phe) | |
| 12 | g.51699706T>A | CA385226645 | SCN8A | c.843T>A (p.Cys281Ter) c.*1281T>A (n.*1281T>A) n.971T>A c.393T>A (p.Cys131Ter) | dbSNP |
| 12 | g.51699706T>C | CA480025826 | SCN8A | c.843T>C (p.Cys281=) c.*1281T>C (n.*1281T>C) n.971T>C c.393T>C (p.Cys131=) | |
| 12 | g.51699706T>G | CA385226646 | SCN8A | c.843T>G (p.Cys281Trp) c.*1281T>G (n.*1281T>G) n.971T>G c.393T>G (p.Cys131Trp) | |
| 12 | g.51699706T= | CA2036163831 | SCN8A | c.843T= (p.Cys281=) c.*1281T= (n.*1281T=) n.971T= c.393T= (p.Cys131=) | |
| 12 | g.51699707G>A | CA385226647 | SCN8A | c.844G>A (p.Val282Ile) c.*1282G>A (n.*1282G>A) n.972G>A c.394G>A (p.Val132Ile) | |
| 12 | g.51699707G>C | CA385226648 | SCN8A | c.844G>C (p.Val282Leu) c.*1282G>C (n.*1282G>C) n.972G>C c.394G>C (p.Val132Leu) | |
| 12 | g.51699707G>T | CA385226649 | SCN8A | c.844G>T (p.Val282Phe) c.*1282G>T (n.*1282G>T) n.972G>T c.394G>T (p.Val132Phe) | |
| 12 | g.51699708T>A | CA385226650 | SCN8A | c.845T>A (p.Val282Asp) c.*1283T>A (n.*1283T>A) n.973T>A c.395T>A (p.Val132Asp) | |
| 12 | g.51699708T>C | CA385226651 | SCN8A | c.845T>C (p.Val282Ala) c.*1283T>C (n.*1283T>C) n.973T>C c.395T>C (p.Val132Ala) | gnomAD v4 |
| 12 | g.51699708T>G | CA385226652 | SCN8A | c.845T>G (p.Val282Gly) c.*1283T>G (n.*1283T>G) n.973T>G c.395T>G (p.Val132Gly) | |
| 12 | g.51699709T>A | CA480025835 | SCN8A | c.846T>A (p.Val282=) c.*1284T>A (n.*1284T>A) n.974T>A c.396T>A (p.Val132=) | |
| 12 | g.51699709T>C | CA480025839 | SCN8A | c.846T>C (p.Val282=) c.*1284T>C (n.*1284T>C) n.974T>C c.396T>C (p.Val132=) | |
| 12 | g.51699709T>G | CA480025837 | SCN8A | c.846T>G (p.Val282=) c.*1284T>G (n.*1284T>G) n.974T>G c.396T>G (p.Val132=) | |
| 12 | g.51699710G>A | CA385226653 | SCN8A | c.847G>A (p.Val283Met) c.*1285G>A (n.*1285G>A) n.975G>A c.397G>A (p.Val133Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.51699710G>C | CA385226654 | SCN8A | c.847G>C (p.Val283Leu) c.*1285G>C (n.*1285G>C) n.975G>C c.397G>C (p.Val133Leu) | gnomAD v4 |
| 12 | g.51699710G= | CA2036163832 | SCN8A | c.847G= (p.Val283=) c.*1285G= (n.*1285G=) n.975G= c.397G= (p.Val133=) | |
| 12 | g.51699710G>T | CA6571158 | SCN8A | c.847G>T (p.Val283Leu) c.*1285G>T (n.*1285G>T) n.975G>T c.397G>T (p.Val133Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51699711T>A | CA385226655 | SCN8A | c.848T>A (p.Val283Glu) c.*1286T>A (n.*1286T>A) n.976T>A c.398T>A (p.Val133Glu) | |
| 12 | g.51699711T>C | CA385226656 | SCN8A | c.848T>C (p.Val283Ala) c.*1286T>C (n.*1286T>C) n.976T>C c.398T>C (p.Val133Ala) | |
| 12 | g.51699711T>G | CA385226657 | SCN8A | c.848T>G (p.Val283Gly) c.*1286T>G (n.*1286T>G) n.976T>G c.398T>G (p.Val133Gly) | |
| 12 | g.51699712G>A | CA480025847 | SCN8A | c.849G>A (p.Val283=) c.*1287G>A (n.*1287G>A) n.977G>A c.399G>A (p.Val133=) | ClinVar |
| 12 | g.51699712G>C | CA480025849 | SCN8A | c.849G>C (p.Val283=) c.*1287G>C (n.*1287G>C) n.977G>C c.399G>C (p.Val133=) | |
| 12 | g.51699712G>T | CA480025851 | SCN8A | c.849G>T (p.Val283=) c.*1287G>T (n.*1287G>T) n.977G>T c.399G>T (p.Val133=) |