| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166228744_166228758del | CA2586970372 | SCN1A-AS1,SCN9A | c.4141_4155del (p.Arg1381_Leu1385del) c.3985_3999del (p.Arg1329_Leu1333del) c.4108_4122del (p.Arg1370_Leu1374del) n.612-19451_612-19437del c.3754_3768del (p.Arg1252_Leu1256del) c.3397_3411del (p.Arg1133_Leu1137del) | |
| 2 | g.166228756G>A | CA1943944 | SCN1A-AS1,SCN9A | c.4141C>T (p.Arg1381Ter) c.3985C>T (p.Arg1329Ter) c.4108C>T (p.Arg1370Ter) n.612-19439G>A c.3754C>T (p.Arg1252Ter) c.3397C>T (p.Arg1133Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.166228756G>C | CA349063443 | SCN1A-AS1,SCN9A | c.4141C>G (p.Arg1381Gly) c.3985C>G (p.Arg1329Gly) c.4108C>G (p.Arg1370Gly) n.612-19439G>C c.3754C>G (p.Arg1252Gly) c.3397C>G (p.Arg1133Gly) | gnomAD v4 |
| 2 | g.166228756G= | CA1304943623 | SCN1A-AS1,SCN9A | c.4141C= (p.Arg1381=) c.3985C= (p.Arg1329=) c.4108C= (p.Arg1370=) n.612-19439G= c.3754C= (p.Arg1252=) c.3397C= (p.Arg1133=) | |
| 2 | g.166228756G>T | CA16603952 | SCN1A-AS1,SCN9A | c.4141C>A (p.Arg1381=) c.3985C>A (p.Arg1329=) c.4108C>A (p.Arg1370=) n.612-19439G>T c.3754C>A (p.Arg1252=) c.3397C>A (p.Arg1133=) | ClinVar dbSNP |
| 2 | g.166228757C>A | CA429899127 | SCN1A-AS1,SCN9A | c.4140G>T (p.Val1380=) c.3984G>T (p.Val1328=) c.4107G>T (p.Val1369=) n.612-19438C>A c.3753G>T (p.Val1251=) c.3396G>T (p.Val1132=) | |
| 2 | g.166228757C= | CA1304943624 | SCN1A-AS1,SCN9A | c.4140G= (p.Val1380=) c.3984G= (p.Val1328=) c.4107G= (p.Val1369=) n.612-19438C= c.3753G= (p.Val1251=) c.3396G= (p.Val1132=) | |
| 2 | g.166228757C>G | CA429899128 | SCN1A-AS1,SCN9A | c.4140G>C (p.Val1380=) c.3984G>C (p.Val1328=) c.4107G>C (p.Val1369=) n.612-19438C>G c.3753G>C (p.Val1251=) c.3396G>C (p.Val1132=) | |
| 2 | g.166228757C>T | CA429899129 | SCN1A-AS1,SCN9A | c.4140G>A (p.Val1380=) c.3984G>A (p.Val1328=) c.4107G>A (p.Val1369=) n.612-19438C>T c.3753G>A (p.Val1251=) c.3396G>A (p.Val1132=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.166228758A= | CA1304943625 | SCN1A-AS1,SCN9A | c.4139T= (p.Val1380=) c.3983T= (p.Val1328=) c.4106T= (p.Val1369=) n.612-19437A= c.3752T= (p.Val1251=) c.3395T= (p.Val1132=) | |
| 2 | g.166228758A>C | CA349063445 | SCN1A-AS1,SCN9A | c.4139T>G (p.Val1380Gly) c.3983T>G (p.Val1328Gly) c.4106T>G (p.Val1369Gly) n.612-19437A>C c.3752T>G (p.Val1251Gly) c.3395T>G (p.Val1132Gly) | |
| 2 | g.166228758A>G | CA1943945 | SCN1A-AS1,SCN9A | c.4139T>C (p.Val1380Ala) c.3983T>C (p.Val1328Ala) c.4106T>C (p.Val1369Ala) n.612-19437A>G c.3752T>C (p.Val1251Ala) c.3395T>C (p.Val1132Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166228758A>T | CA349063444 | SCN1A-AS1,SCN9A | c.4139T>A (p.Val1380Glu) c.3983T>A (p.Val1328Glu) c.4106T>A (p.Val1369Glu) n.612-19437A>T c.3752T>A (p.Val1251Glu) c.3395T>A (p.Val1132Glu) | |
| 2 | g.166228759C>A | CA349063446 | SCN1A-AS1,SCN9A | c.4138G>T (p.Val1380Leu) c.3982G>T (p.Val1328Leu) c.4105G>T (p.Val1369Leu) n.612-19436C>A c.3751G>T (p.Val1251Leu) c.3394G>T (p.Val1132Leu) | COSMIC COSMIC |
| 2 | g.166228759C>G | CA349063447 | SCN1A-AS1,SCN9A | c.4138G>C (p.Val1380Leu) c.3982G>C (p.Val1328Leu) c.4105G>C (p.Val1369Leu) n.612-19436C>G c.3751G>C (p.Val1251Leu) c.3394G>C (p.Val1132Leu) | |
| 2 | g.166228759C>T | CA349063448 | SCN1A-AS1,SCN9A | c.4138G>A (p.Val1380Met) c.3982G>A (p.Val1328Met) c.4105G>A (p.Val1369Met) n.612-19436C>T c.3751G>A (p.Val1251Met) c.3394G>A (p.Val1132Met) | |
| 2 | g.166228760A>C | CA349063449 | SCN1A-AS1,SCN9A | c.4137T>G (p.Asn1379Lys) c.3981T>G (p.Asn1327Lys) c.4104T>G (p.Asn1368Lys) n.612-19435A>C c.3750T>G (p.Asn1250Lys) c.3393T>G (p.Asn1131Lys) | |
| 2 | g.166228760A>G | CA429899133 | SCN1A-AS1,SCN9A | c.4137T>C (p.Asn1379=) c.3981T>C (p.Asn1327=) c.4104T>C (p.Asn1368=) n.612-19435A>G c.3750T>C (p.Asn1250=) c.3393T>C (p.Asn1131=) | |
| 2 | g.166228760A>T | CA349063450 | SCN1A-AS1,SCN9A | c.4137T>A (p.Asn1379Lys) c.3981T>A (p.Asn1327Lys) c.4104T>A (p.Asn1368Lys) n.612-19435A>T c.3750T>A (p.Asn1250Lys) c.3393T>A (p.Asn1131Lys) | |
| 2 | g.166228761T>A | CA349063451 | SCN1A-AS1,SCN9A | c.4136A>T (p.Asn1379Ile) c.3980A>T (p.Asn1327Ile) c.4103A>T (p.Asn1368Ile) n.612-19434T>A c.3749A>T (p.Asn1250Ile) c.3392A>T (p.Asn1131Ile) | |
| 2 | g.166228761T>C | CA349063452 | SCN1A-AS1,SCN9A | c.4136A>G (p.Asn1379Ser) c.3980A>G (p.Asn1327Ser) c.4103A>G (p.Asn1368Ser) n.612-19434T>C c.3749A>G (p.Asn1250Ser) c.3392A>G (p.Asn1131Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166228761T>G | CA349063453 | SCN1A-AS1,SCN9A | c.4136A>C (p.Asn1379Thr) c.3980A>C (p.Asn1327Thr) c.4103A>C (p.Asn1368Thr) n.612-19434T>G c.3749A>C (p.Asn1250Thr) c.3392A>C (p.Asn1131Thr) | |
| 2 | g.166228761T= | CA1304943626 | SCN1A-AS1,SCN9A | c.4136A= (p.Asn1379=) c.3980A= (p.Asn1327=) c.4103A= (p.Asn1368=) n.612-19434T= c.3749A= (p.Asn1250=) c.3392A= (p.Asn1131=) | |
| 2 | g.166228764del | CA645519728 | SCN1A-AS1,SCN9A | c.4136del (p.Asn1379MetfsTer7) c.3980del (p.Asn1327MetfsTer7) c.4103del (p.Asn1368MetfsTer7) n.612-19431del c.3749del (p.Asn1250MetfsTer7) c.3392del (p.Asn1131MetfsTer7) | COSMIC COSMIC |
| 2 | g.166228762T>A | CA349063454 | SCN1A-AS1,SCN9A | c.4135A>T (p.Asn1379Tyr) c.3979A>T (p.Asn1327Tyr) c.4102A>T (p.Asn1368Tyr) n.612-19433T>A c.3748A>T (p.Asn1250Tyr) c.3391A>T (p.Asn1131Tyr) | |
| 2 | g.166228762T>C | CA349063455 | SCN1A-AS1,SCN9A | c.4135A>G (p.Asn1379Asp) c.3979A>G (p.Asn1327Asp) c.4102A>G (p.Asn1368Asp) n.612-19433T>C c.3748A>G (p.Asn1250Asp) c.3391A>G (p.Asn1131Asp) | |
| 2 | g.166228762T>G | CA349063457 | SCN1A-AS1,SCN9A | c.4135A>C (p.Asn1379His) c.3979A>C (p.Asn1327His) c.4102A>C (p.Asn1368His) n.612-19433T>G c.3748A>C (p.Asn1250His) c.3391A>C (p.Asn1131His) | gnomAD v4 |
| 2 | g.166228763T>A | CA349063459 | SCN1A-AS1,SCN9A | c.4134A>T (p.Gln1378His) c.3978A>T (p.Gln1326His) c.4101A>T (p.Gln1367His) n.612-19432T>A c.3747A>T (p.Gln1249His) c.3390A>T (p.Gln1130His) | |
| 2 | g.166228763T>C | CA429899134 | SCN1A-AS1,SCN9A | c.4134A>G (p.Gln1378=) c.3978A>G (p.Gln1326=) c.4101A>G (p.Gln1367=) n.612-19432T>C c.3747A>G (p.Gln1249=) c.3390A>G (p.Gln1130=) | |
| 2 | g.166228763T>G | CA349063460 | SCN1A-AS1,SCN9A | c.4134A>C (p.Gln1378His) c.3978A>C (p.Gln1326His) c.4101A>C (p.Gln1367His) n.612-19432T>G c.3747A>C (p.Gln1249His) c.3390A>C (p.Gln1130His) | |
| 2 | g.166228764T>A | CA349063461 | SCN1A-AS1,SCN9A | c.4133A>T (p.Gln1378Leu) c.3977A>T (p.Gln1326Leu) c.4100A>T (p.Gln1367Leu) n.612-19431T>A c.3746A>T (p.Gln1249Leu) c.3389A>T (p.Gln1130Leu) | |
| 2 | g.166228764T>C | CA349063462 | SCN1A-AS1,SCN9A | c.4133A>G (p.Gln1378Arg) c.3977A>G (p.Gln1326Arg) c.4100A>G (p.Gln1367Arg) n.612-19431T>C c.3746A>G (p.Gln1249Arg) c.3389A>G (p.Gln1130Arg) | |
| 2 | g.166228764T>G | CA349063463 | SCN1A-AS1,SCN9A | c.4133A>C (p.Gln1378Pro) c.3977A>C (p.Gln1326Pro) c.4100A>C (p.Gln1367Pro) n.612-19431T>G c.3746A>C (p.Gln1249Pro) c.3389A>C (p.Gln1130Pro) | |
| 2 | g.166228765G>A | CA349063464 | SCN1A-AS1,SCN9A | c.4132C>T (p.Gln1378Ter) c.3976C>T (p.Gln1326Ter) c.4099C>T (p.Gln1367Ter) n.612-19430G>A c.3745C>T (p.Gln1249Ter) c.3388C>T (p.Gln1130Ter) | dbSNP |
| 2 | g.166228765G>C | CA349063465 | SCN1A-AS1,SCN9A | c.4132C>G (p.Gln1378Glu) c.3976C>G (p.Gln1326Glu) c.4099C>G (p.Gln1367Glu) n.612-19430G>C c.3745C>G (p.Gln1249Glu) c.3388C>G (p.Gln1130Glu) | |
| 2 | g.166228765G= | CA1304943627 | SCN1A-AS1,SCN9A | c.4132C= (p.Gln1378=) c.3976C= (p.Gln1326=) c.4099C= (p.Gln1367=) n.612-19430G= c.3745C= (p.Gln1249=) c.3388C= (p.Gln1130=) | |
| 2 | g.166228765G>T | CA349063466 | SCN1A-AS1,SCN9A | c.4132C>A (p.Gln1378Lys) c.3976C>A (p.Gln1326Lys) c.4099C>A (p.Gln1367Lys) n.612-19430G>T c.3745C>A (p.Gln1249Lys) c.3388C>A (p.Gln1130Lys) | |
| 2 | g.166228766A>C | CA349063469 | SCN1A-AS1,SCN9A | c.4131T>G (p.Ser1377Arg) c.3975T>G (p.Ser1325Arg) c.4098T>G (p.Ser1366Arg) n.612-19429A>C c.3744T>G (p.Ser1248Arg) c.3387T>G (p.Ser1129Arg) | |
| 2 | g.166228766A>G | CA429899137 | SCN1A-AS1,SCN9A | c.4131T>C (p.Ser1377=) c.3975T>C (p.Ser1325=) c.4098T>C (p.Ser1366=) n.612-19429A>G c.3744T>C (p.Ser1248=) c.3387T>C (p.Ser1129=) | |
| 2 | g.166228766A>T | CA349063467 | SCN1A-AS1,SCN9A | c.4131T>A (p.Ser1377Arg) c.3975T>A (p.Ser1325Arg) c.4098T>A (p.Ser1366Arg) n.612-19429A>T c.3744T>A (p.Ser1248Arg) c.3387T>A (p.Ser1129Arg) | |
| 2 | g.166228767C>A | CA349063470 | SCN1A-AS1,SCN9A | c.4130G>T (p.Ser1377Ile) c.3974G>T (p.Ser1325Ile) c.4097G>T (p.Ser1366Ile) n.612-19428C>A c.3743G>T (p.Ser1248Ile) c.3386G>T (p.Ser1129Ile) | |
| 2 | g.166228767C= | CA1304943628 | SCN1A-AS1,SCN9A | c.4130G= (p.Ser1377=) c.3974G= (p.Ser1325=) c.4097G= (p.Ser1366=) n.612-19428C= c.3743G= (p.Ser1248=) c.3386G= (p.Ser1129=) | |
| 2 | g.166228767C>G | CA349063471 | SCN1A-AS1,SCN9A | c.4130G>C (p.Ser1377Thr) c.3974G>C (p.Ser1325Thr) c.4097G>C (p.Ser1366Thr) n.612-19428C>G c.3743G>C (p.Ser1248Thr) c.3386G>C (p.Ser1129Thr) | |
| 2 | g.166228767C>T | CA349063473 | SCN1A-AS1,SCN9A | c.4130G>A (p.Ser1377Asn) c.3974G>A (p.Ser1325Asn) c.4097G>A (p.Ser1366Asn) n.612-19428C>T c.3743G>A (p.Ser1248Asn) c.3386G>A (p.Ser1129Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166228768T>A | CA349063475 | SCN1A-AS1,SCN9A | c.4129A>T (p.Ser1377Cys) c.3973A>T (p.Ser1325Cys) c.4096A>T (p.Ser1366Cys) n.612-19427T>A c.3742A>T (p.Ser1248Cys) c.3385A>T (p.Ser1129Cys) | |
| 2 | g.166228768T>C | CA349063476 | SCN1A-AS1,SCN9A | c.4129A>G (p.Ser1377Gly) c.3973A>G (p.Ser1325Gly) c.4096A>G (p.Ser1366Gly) n.612-19427T>C c.3742A>G (p.Ser1248Gly) c.3385A>G (p.Ser1129Gly) | |
| 2 | g.166228768T>G | CA349063477 | SCN1A-AS1,SCN9A | c.4129A>C (p.Ser1377Arg) c.3973A>C (p.Ser1325Arg) c.4096A>C (p.Ser1366Arg) n.612-19427T>G c.3742A>C (p.Ser1248Arg) c.3385A>C (p.Ser1129Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166228768T= | CA1304943629 | SCN1A-AS1,SCN9A | c.4129A= (p.Ser1377=) c.3973A= (p.Ser1325=) c.4096A= (p.Ser1366=) n.612-19427T= c.3742A= (p.Ser1248=) c.3385A= (p.Ser1129=) | |
| 2 | g.166228769A= | CA1304943630 | SCN1A-AS1,SCN9A | c.4128T= (p.Val1376=) c.3972T= (p.Val1324=) c.4095T= (p.Val1365=) n.612-19426A= c.3741T= (p.Val1247=) c.3384T= (p.Val1128=) | |
| 2 | g.166228769A>C | CA429899140 | SCN1A-AS1,SCN9A | c.4128T>G (p.Val1376=) c.3972T>G (p.Val1324=) c.4095T>G (p.Val1365=) n.612-19426A>C c.3741T>G (p.Val1247=) c.3384T>G (p.Val1128=) | gnomAD v4 |