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.166228754T>A | CA429899123 | SCN1A-AS1,SCN9A | c.4143A>T (p.Arg1381=) c.3987A>T (p.Arg1329=) c.4110A>T (p.Arg1370=) n.612-19441T>A c.3756A>T (p.Arg1252=) c.3399A>T (p.Arg1133=) | ClinVar dbSNP gnomAD v4 |
2 | g.166228754T>C | CA59810250 | SCN1A-AS1,SCN9A | c.4143A>G (p.Arg1381=) c.3987A>G (p.Arg1329=) c.4110A>G (p.Arg1370=) n.612-19441T>C c.3756A>G (p.Arg1252=) c.3399A>G (p.Arg1133=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228754T>G | CA429899125 | SCN1A-AS1,SCN9A | c.4143A>C (p.Arg1381=) c.3987A>C (p.Arg1329=) c.4110A>C (p.Arg1370=) n.612-19441T>G c.3756A>C (p.Arg1252=) c.3399A>C (p.Arg1133=) | |
2 | g.166228754T= | CA1304943621 | SCN1A-AS1,SCN9A | c.4143A= (p.Arg1381=) c.3987A= (p.Arg1329=) c.4110A= (p.Arg1370=) n.612-19441T= c.3756A= (p.Arg1252=) c.3399A= (p.Arg1133=) | |
2 | g.166228755C>A | CA349063441 | SCN1A-AS1,SCN9A | c.4142G>T (p.Arg1381Leu) c.3986G>T (p.Arg1329Leu) c.4109G>T (p.Arg1370Leu) n.612-19440C>A c.3755G>T (p.Arg1252Leu) c.3398G>T (p.Arg1133Leu) | |
2 | g.166228755C= | CA1304943622 | SCN1A-AS1,SCN9A | c.4142G= (p.Arg1381=) c.3986G= (p.Arg1329=) c.4109G= (p.Arg1370=) n.612-19440C= c.3755G= (p.Arg1252=) c.3398G= (p.Arg1133=) | |
2 | g.166228755C>G | CA349063442 | SCN1A-AS1,SCN9A | c.4142G>C (p.Arg1381Pro) c.3986G>C (p.Arg1329Pro) c.4109G>C (p.Arg1370Pro) n.612-19440C>G c.3755G>C (p.Arg1252Pro) c.3398G>C (p.Arg1133Pro) | |
2 | g.166228755C>T | CA1943943 | SCN1A-AS1,SCN9A | c.4142G>A (p.Arg1381Gln) c.3986G>A (p.Arg1329Gln) c.4109G>A (p.Arg1370Gln) n.612-19440C>T c.3755G>A (p.Arg1252Gln) c.3398G>A (p.Arg1133Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
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 |
2 | g.166228769A>G | CA429899141 | SCN1A-AS1,SCN9A | c.4128T>C (p.Val1376=) c.3972T>C (p.Val1324=) c.4095T>C (p.Val1365=) n.612-19426A>G c.3741T>C (p.Val1247=) c.3384T>C (p.Val1128=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228769A>T | CA429899142 | SCN1A-AS1,SCN9A | c.4128T>A (p.Val1376=) c.3972T>A (p.Val1324=) c.4095T>A (p.Val1365=) n.612-19426A>T c.3741T>A (p.Val1247=) c.3384T>A (p.Val1128=) | |
2 | g.166228776_166228792del | CA2661765422 | SCN1A-AS1,SCN9A | c.4112_4128del (p.Phe1371Ter) c.3956_3972del (p.Phe1319Ter) c.4079_4095del (p.Phe1360Ter) n.612-19419_612-19403del c.3725_3741del (p.Phe1242Ter) c.3368_3384del (p.Phe1123Ter) | gnomAD v4 |
2 | g.166228770A>C | CA349063478 | SCN1A-AS1,SCN9A | c.4127T>G (p.Val1376Gly) c.3971T>G (p.Val1324Gly) c.4094T>G (p.Val1365Gly) n.612-19425A>C c.3740T>G (p.Val1247Gly) c.3383T>G (p.Val1128Gly) | |
2 | g.166228770A>G | CA349063481 | SCN1A-AS1,SCN9A | c.4127T>C (p.Val1376Ala) c.3971T>C (p.Val1324Ala) c.4094T>C (p.Val1365Ala) n.612-19425A>G c.3740T>C (p.Val1247Ala) c.3383T>C (p.Val1128Ala) | COSMIC COSMIC |
2 | g.166228770A>T | CA349063480 | SCN1A-AS1,SCN9A | c.4127T>A (p.Val1376Asp) c.3971T>A (p.Val1324Asp) c.4094T>A (p.Val1365Asp) n.612-19425A>T c.3740T>A (p.Val1247Asp) c.3383T>A (p.Val1128Asp) | |
2 | g.166228771C>A | CA349063482 | SCN1A-AS1,SCN9A | c.4126G>T (p.Val1376Phe) c.3970G>T (p.Val1324Phe) c.4093G>T (p.Val1365Phe) n.612-19424C>A c.3739G>T (p.Val1247Phe) c.3382G>T (p.Val1128Phe) | |
2 | g.166228771C= | CA1304943631 | SCN1A-AS1,SCN9A | c.4126G= (p.Val1376=) c.3970G= (p.Val1324=) c.4093G= (p.Val1365=) n.612-19424C= c.3739G= (p.Val1247=) c.3382G= (p.Val1128=) | |
2 | g.166228771C>G | CA349063483 | SCN1A-AS1,SCN9A | c.4126G>C (p.Val1376Leu) c.3970G>C (p.Val1324Leu) c.4093G>C (p.Val1365Leu) n.612-19424C>G c.3739G>C (p.Val1247Leu) c.3382G>C (p.Val1128Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228771C>T | CA349063484 | SCN1A-AS1,SCN9A | c.4126G>A (p.Val1376Ile) c.3970G>A (p.Val1324Ile) c.4093G>A (p.Val1365Ile) n.612-19424C>T c.3739G>A (p.Val1247Ile) c.3382G>A (p.Val1128Ile) | ClinVar |
2 | g.166228772A>C | CA349063486 | SCN1A-AS1,SCN9A | c.4125T>G (p.Asn1375Lys) c.3969T>G (p.Asn1323Lys) c.4092T>G (p.Asn1364Lys) n.612-19423A>C c.3738T>G (p.Asn1246Lys) c.3381T>G (p.Asn1127Lys) | |
2 | g.166228772A>G | CA429899147 | SCN1A-AS1,SCN9A | c.4125T>C (p.Asn1375=) c.3969T>C (p.Asn1323=) c.4092T>C (p.Asn1364=) n.612-19423A>G c.3738T>C (p.Asn1246=) c.3381T>C (p.Asn1127=) | |
2 | g.166228772A>T | CA349063488 | SCN1A-AS1,SCN9A | c.4125T>A (p.Asn1375Lys) c.3969T>A (p.Asn1323Lys) c.4092T>A (p.Asn1364Lys) n.612-19423A>T c.3738T>A (p.Asn1246Lys) c.3381T>A (p.Asn1127Lys) | |
2 | g.166228773T>A | CA349063490 | SCN1A-AS1,SCN9A | c.4124A>T (p.Asn1375Ile) c.3968A>T (p.Asn1323Ile) c.4091A>T (p.Asn1364Ile) n.612-19422T>A c.3737A>T (p.Asn1246Ile) c.3380A>T (p.Asn1127Ile) | |
2 | g.166228773T>C | CA1943946 | SCN1A-AS1,SCN9A | c.4124A>G (p.Asn1375Ser) c.3968A>G (p.Asn1323Ser) c.4091A>G (p.Asn1364Ser) n.612-19422T>C c.3737A>G (p.Asn1246Ser) c.3380A>G (p.Asn1127Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228773T>G | CA349063491 | SCN1A-AS1,SCN9A | c.4124A>C (p.Asn1375Thr) c.3968A>C (p.Asn1323Thr) c.4091A>C (p.Asn1364Thr) n.612-19422T>G c.3737A>C (p.Asn1246Thr) c.3380A>C (p.Asn1127Thr) | |
2 | g.166228773T= | CA1304943632 | SCN1A-AS1,SCN9A | c.4124A= (p.Asn1375=) c.3968A= (p.Asn1323=) c.4091A= (p.Asn1364=) n.612-19422T= c.3737A= (p.Asn1246=) c.3380A= (p.Asn1127=) | |
2 | g.166228774T>A | CA349063494 | SCN1A-AS1,SCN9A | c.4123A>T (p.Asn1375Tyr) c.3967A>T (p.Asn1323Tyr) c.4090A>T (p.Asn1364Tyr) n.612-19421T>A c.3736A>T (p.Asn1246Tyr) c.3379A>T (p.Asn1127Tyr) | |
2 | g.166228774T>C | CA349063496 | SCN1A-AS1,SCN9A | c.4123A>G (p.Asn1375Asp) c.3967A>G (p.Asn1323Asp) c.4090A>G (p.Asn1364Asp) n.612-19421T>C c.3736A>G (p.Asn1246Asp) c.3379A>G (p.Asn1127Asp) | |
2 | g.166228774T>G | CA349063497 | SCN1A-AS1,SCN9A | c.4123A>C (p.Asn1375His) c.3967A>C (p.Asn1323His) c.4090A>C (p.Asn1364His) n.612-19421T>G c.3736A>C (p.Asn1246His) c.3379A>C (p.Asn1127His) | |
2 | g.166228775C>A | CA349063502 | SCN1A-AS1,SCN9A | c.4122G>T (p.Met1374Ile) c.3966G>T (p.Met1322Ile) c.4089G>T (p.Met1363Ile) n.612-19420C>A c.3735G>T (p.Met1245Ile) c.3378G>T (p.Met1126Ile) | gnomAD v4 |
2 | g.166228775C= | CA1304943633 | SCN1A-AS1,SCN9A | c.4122G= (p.Met1374=) c.3966G= (p.Met1322=) c.4089G= (p.Met1363=) n.612-19420C= c.3735G= (p.Met1245=) c.3378G= (p.Met1126=) | |
2 | g.166228775C>G | CA349063500 | SCN1A-AS1,SCN9A | c.4122G>C (p.Met1374Ile) c.3966G>C (p.Met1322Ile) c.4089G>C (p.Met1363Ile) n.612-19420C>G c.3735G>C (p.Met1245Ile) c.3378G>C (p.Met1126Ile) | |
2 | g.166228775C>T | CA1943947 | SCN1A-AS1,SCN9A | c.4122G>A (p.Met1374Ile) c.3966G>A (p.Met1322Ile) c.4089G>A (p.Met1363Ile) n.612-19420C>T c.3735G>A (p.Met1245Ile) c.3378G>A (p.Met1126Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228776A>C | CA349063505 | SCN1A-AS1,SCN9A | c.4121T>G (p.Met1374Arg) c.3965T>G (p.Met1322Arg) c.4088T>G (p.Met1363Arg) n.612-19419A>C c.3734T>G (p.Met1245Arg) c.3377T>G (p.Met1126Arg) | |
2 | g.166228776A>G | CA349063504 | SCN1A-AS1,SCN9A | c.4121T>C (p.Met1374Thr) c.3965T>C (p.Met1322Thr) c.4088T>C (p.Met1363Thr) n.612-19419A>G c.3734T>C (p.Met1245Thr) c.3377T>C (p.Met1126Thr) | ClinVar gnomAD v4 |
2 | g.166228776A>T | CA349063506 | SCN1A-AS1,SCN9A | c.4121T>A (p.Met1374Lys) c.3965T>A (p.Met1322Lys) c.4088T>A (p.Met1363Lys) n.612-19419A>T c.3734T>A (p.Met1245Lys) c.3377T>A (p.Met1126Lys) | |
2 | g.166228777T>A | CA59810264 | SCN1A-AS1,SCN9A | c.4120A>T (p.Met1374Leu) c.3964A>T (p.Met1322Leu) c.4087A>T (p.Met1363Leu) n.612-19418T>A c.3733A>T (p.Met1245Leu) c.3376A>T (p.Met1126Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228777T>C | CA349063509 | SCN1A-AS1,SCN9A | c.4120A>G (p.Met1374Val) c.3964A>G (p.Met1322Val) c.4087A>G (p.Met1363Val) n.612-19418T>C c.3733A>G (p.Met1245Val) c.3376A>G (p.Met1126Val) | |
2 | g.166228777T>G | CA349063508 | SCN1A-AS1,SCN9A | c.4120A>C (p.Met1374Leu) c.3964A>C (p.Met1322Leu) c.4087A>C (p.Met1363Leu) n.612-19418T>G c.3733A>C (p.Met1245Leu) c.3376A>C (p.Met1126Leu) | ClinVar dbSNP |
2 | g.166228777T= | CA1304943634 | SCN1A-AS1,SCN9A | c.4120A= (p.Met1374=) c.3964A= (p.Met1322=) c.4087A= (p.Met1363=) n.612-19418T= c.3733A= (p.Met1245=) c.3376A= (p.Met1126=) | |
2 | g.166228778A>C | CA429899155 | SCN1A-AS1,SCN9A | c.4119T>G (p.Leu1373=) c.3963T>G (p.Leu1321=) c.4086T>G (p.Leu1362=) n.612-19417A>C c.3732T>G (p.Leu1244=) c.3375T>G (p.Leu1125=) | |
2 | g.166228778A>G | CA429899156 | SCN1A-AS1,SCN9A | c.4119T>C (p.Leu1373=) c.3963T>C (p.Leu1321=) c.4086T>C (p.Leu1362=) n.612-19417A>G c.3732T>C (p.Leu1244=) c.3375T>C (p.Leu1125=) | |
2 | g.166228778A>T | CA429899157 | SCN1A-AS1,SCN9A | c.4119T>A (p.Leu1373=) c.3963T>A (p.Leu1321=) c.4086T>A (p.Leu1362=) n.612-19417A>T c.3732T>A (p.Leu1244=) c.3375T>A (p.Leu1125=) | |
2 | g.166228779A>C | CA349063512 | SCN1A-AS1,SCN9A | c.4118T>G (p.Leu1373Arg) c.3962T>G (p.Leu1321Arg) c.4085T>G (p.Leu1362Arg) n.612-19416A>C c.3731T>G (p.Leu1244Arg) c.3374T>G (p.Leu1125Arg) | |
2 | g.166228779A>G | CA349063513 | SCN1A-AS1,SCN9A | c.4118T>C (p.Leu1373Pro) c.3962T>C (p.Leu1321Pro) c.4085T>C (p.Leu1362Pro) n.612-19416A>G c.3731T>C (p.Leu1244Pro) c.3374T>C (p.Leu1125Pro) | |
2 | g.166228779A>T | CA349063515 | SCN1A-AS1,SCN9A | c.4118T>A (p.Leu1373His) c.3962T>A (p.Leu1321His) c.4085T>A (p.Leu1362His) n.612-19416A>T c.3731T>A (p.Leu1244His) c.3374T>A (p.Leu1125His) | |
2 | g.166228780G>A | CA1943948 | SCN1A-AS1,SCN9A | c.4117C>T (p.Leu1373Phe) c.3961C>T (p.Leu1321Phe) c.4084C>T (p.Leu1362Phe) n.612-19415G>A c.3730C>T (p.Leu1244Phe) c.3373C>T (p.Leu1125Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228780G>C | CA349063518 | SCN1A-AS1,SCN9A | c.4117C>G (p.Leu1373Val) c.3961C>G (p.Leu1321Val) c.4084C>G (p.Leu1362Val) n.612-19415G>C c.3730C>G (p.Leu1244Val) c.3373C>G (p.Leu1125Val) | |
2 | g.166228780G= | CA1304943635 | SCN1A-AS1,SCN9A | c.4117C= (p.Leu1373=) c.3961C= (p.Leu1321=) c.4084C= (p.Leu1362=) n.612-19415G= c.3730C= (p.Leu1244=) c.3373C= (p.Leu1125=) | |
2 | g.166228780G>T | CA349063520 | SCN1A-AS1,SCN9A | c.4117C>A (p.Leu1373Ile) c.3961C>A (p.Leu1321Ile) c.4084C>A (p.Leu1362Ile) n.612-19415G>T c.3730C>A (p.Leu1244Ile) c.3373C>A (p.Leu1125Ile) | |
2 | g.166228781G>A | CA429899164 | SCN1A-AS1,SCN9A | c.4116C>T (p.Ala1372=) c.3960C>T (p.Ala1320=) c.4083C>T (p.Ala1361=) n.612-19414G>A c.3729C>T (p.Ala1243=) c.3372C>T (p.Ala1124=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228781G>C | CA429899166 | SCN1A-AS1,SCN9A | c.4116C>G (p.Ala1372=) c.3960C>G (p.Ala1320=) c.4083C>G (p.Ala1361=) n.612-19414G>C c.3729C>G (p.Ala1243=) c.3372C>G (p.Ala1124=) | gnomAD v4 |
2 | g.166228781G= | CA1304943636 | SCN1A-AS1,SCN9A | c.4116C= (p.Ala1372=) c.3960C= (p.Ala1320=) c.4083C= (p.Ala1361=) n.612-19414G= c.3729C= (p.Ala1243=) c.3372C= (p.Ala1124=) | |
2 | g.166228781G>T | CA429899167 | SCN1A-AS1,SCN9A | c.4116C>A (p.Ala1372=) c.3960C>A (p.Ala1320=) c.4083C>A (p.Ala1361=) n.612-19414G>T c.3729C>A (p.Ala1243=) c.3372C>A (p.Ala1124=) | |
2 | g.166228782G>A | CA349063523 | SCN1A-AS1,SCN9A | c.4115C>T (p.Ala1372Val) c.3959C>T (p.Ala1320Val) c.4082C>T (p.Ala1361Val) n.612-19413G>A c.3728C>T (p.Ala1243Val) c.3371C>T (p.Ala1124Val) | |
2 | g.166228782G>C | CA349063525 | SCN1A-AS1,SCN9A | c.4115C>G (p.Ala1372Gly) c.3959C>G (p.Ala1320Gly) c.4082C>G (p.Ala1361Gly) n.612-19413G>C c.3728C>G (p.Ala1243Gly) c.3371C>G (p.Ala1124Gly) | |
2 | g.166228782G>T | CA349063527 | SCN1A-AS1,SCN9A | c.4115C>A (p.Ala1372Asp) c.3959C>A (p.Ala1320Asp) c.4082C>A (p.Ala1361Asp) n.612-19413G>T c.3728C>A (p.Ala1243Asp) c.3371C>A (p.Ala1124Asp) | |
2 | g.166228783C>A | CA349063528 | SCN1A-AS1,SCN9A | c.4114G>T (p.Ala1372Ser) c.3958G>T (p.Ala1320Ser) c.4081G>T (p.Ala1361Ser) n.612-19412C>A c.3727G>T (p.Ala1243Ser) c.3370G>T (p.Ala1124Ser) | |
2 | g.166228783C>G | CA349063529 | SCN1A-AS1,SCN9A | c.4114G>C (p.Ala1372Pro) c.3958G>C (p.Ala1320Pro) c.4081G>C (p.Ala1361Pro) n.612-19412C>G c.3727G>C (p.Ala1243Pro) c.3370G>C (p.Ala1124Pro) | |
2 | g.166228783C>T | CA349063530 | SCN1A-AS1,SCN9A | c.4114G>A (p.Ala1372Thr) c.3958G>A (p.Ala1320Thr) c.4081G>A (p.Ala1361Thr) n.612-19412C>T c.3727G>A (p.Ala1243Thr) c.3370G>A (p.Ala1124Thr) | |
2 | g.166228784A>C | CA349063532 | SCN1A-AS1,SCN9A | c.4113T>G (p.Phe1371Leu) c.3957T>G (p.Phe1319Leu) c.4080T>G (p.Phe1360Leu) n.612-19411A>C c.3726T>G (p.Phe1242Leu) c.3369T>G (p.Phe1123Leu) | |
2 | g.166228784A>G | CA429899172 | SCN1A-AS1,SCN9A | c.4113T>C (p.Phe1371=) c.3957T>C (p.Phe1319=) c.4080T>C (p.Phe1360=) n.612-19411A>G c.3726T>C (p.Phe1242=) c.3369T>C (p.Phe1123=) | |
2 | g.166228784A>T | CA349063534 | SCN1A-AS1,SCN9A | c.4113T>A (p.Phe1371Leu) c.3957T>A (p.Phe1319Leu) c.4080T>A (p.Phe1360Leu) n.612-19411A>T c.3726T>A (p.Phe1242Leu) c.3369T>A (p.Phe1123Leu) | |
2 | g.166228785A= | CA1304943637 | SCN1A-AS1,SCN9A | c.4112T= (p.Phe1371=) c.3956T= (p.Phe1319=) c.4079T= (p.Phe1360=) n.612-19410A= c.3725T= (p.Phe1242=) c.3368T= (p.Phe1123=) | |
2 | g.166228785A>C | CA349063536 | SCN1A-AS1,SCN9A | c.4112T>G (p.Phe1371Cys) c.3956T>G (p.Phe1319Cys) c.4079T>G (p.Phe1360Cys) n.612-19410A>C c.3725T>G (p.Phe1242Cys) c.3368T>G (p.Phe1123Cys) | |
2 | g.166228785A>G | CA349063539 | SCN1A-AS1,SCN9A | c.4112T>C (p.Phe1371Ser) c.3956T>C (p.Phe1319Ser) c.4079T>C (p.Phe1360Ser) n.612-19410A>G c.3725T>C (p.Phe1242Ser) c.3368T>C (p.Phe1123Ser) | ClinVar dbSNP |
2 | g.166228785A>T | CA349063541 | SCN1A-AS1,SCN9A | c.4112T>A (p.Phe1371Tyr) c.3956T>A (p.Phe1319Tyr) c.4079T>A (p.Phe1360Tyr) n.612-19410A>T c.3725T>A (p.Phe1242Tyr) c.3368T>A (p.Phe1123Tyr) | |
2 | g.166228786A>C | CA349063544 | SCN1A-AS1,SCN9A | c.4111T>G (p.Phe1371Val) c.3955T>G (p.Phe1319Val) c.4078T>G (p.Phe1360Val) n.612-19409A>C c.3724T>G (p.Phe1242Val) c.3367T>G (p.Phe1123Val) | |
2 | g.166228786A>G | CA349063546 | SCN1A-AS1,SCN9A | c.4111T>C (p.Phe1371Leu) c.3955T>C (p.Phe1319Leu) c.4078T>C (p.Phe1360Leu) n.612-19409A>G c.3724T>C (p.Phe1242Leu) c.3367T>C (p.Phe1123Leu) | |
2 | g.166228786A>T | CA349063548 | SCN1A-AS1,SCN9A | c.4111T>A (p.Phe1371Ile) c.3955T>A (p.Phe1319Ile) c.4078T>A (p.Phe1360Ile) n.612-19409A>T c.3724T>A (p.Phe1242Ile) c.3367T>A (p.Phe1123Ile) | |
2 | g.166228787A= | CA1304943638 | SCN1A-AS1,SCN9A | c.4110T= (p.Cys1370=) c.3954T= (p.Cys1318=) c.4077T= (p.Cys1359=) n.612-19408A= c.3723T= (p.Cys1241=) c.3366T= (p.Cys1122=) | |
2 | g.166228787A>C | CA349063550 | SCN1A-AS1,SCN9A | c.4110T>G (p.Cys1370Trp) c.3954T>G (p.Cys1318Trp) c.4077T>G (p.Cys1359Trp) n.612-19408A>C c.3723T>G (p.Cys1241Trp) c.3366T>G (p.Cys1122Trp) | |
2 | g.166228787A>G | CA1943949 | SCN1A-AS1,SCN9A | c.4110T>C (p.Cys1370=) c.3954T>C (p.Cys1318=) c.4077T>C (p.Cys1359=) n.612-19408A>G c.3723T>C (p.Cys1241=) c.3366T>C (p.Cys1122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228787A>T | CA349063553 | SCN1A-AS1,SCN9A | c.4110T>A (p.Cys1370Ter) c.3954T>A (p.Cys1318Ter) c.4077T>A (p.Cys1359Ter) n.612-19408A>T c.3723T>A (p.Cys1241Ter) c.3366T>A (p.Cys1122Ter) | dbSNP |
2 | g.166228788C>A | CA349063555 | SCN1A-AS1,SCN9A | c.4109G>T (p.Cys1370Phe) c.3953G>T (p.Cys1318Phe) c.4076G>T (p.Cys1359Phe) n.612-19407C>A c.3722G>T (p.Cys1241Phe) c.3365G>T (p.Cys1122Phe) | |
2 | g.166228788C= | CA1304943639 | SCN1A-AS1,SCN9A | c.4109G= (p.Cys1370=) c.3953G= (p.Cys1318=) c.4076G= (p.Cys1359=) n.612-19407C= c.3722G= (p.Cys1241=) c.3365G= (p.Cys1122=) | |
2 | g.166228788C>G | CA349063558 | SCN1A-AS1,SCN9A | c.4109G>C (p.Cys1370Ser) c.3953G>C (p.Cys1318Ser) c.4076G>C (p.Cys1359Ser) n.612-19407C>G c.3722G>C (p.Cys1241Ser) c.3365G>C (p.Cys1122Ser) | |
2 | g.166228788C>T | CA349063560 | SCN1A-AS1,SCN9A | c.4109G>A (p.Cys1370Tyr) c.3953G>A (p.Cys1318Tyr) c.4076G>A (p.Cys1359Tyr) n.612-19407C>T c.3722G>A (p.Cys1241Tyr) c.3365G>A (p.Cys1122Tyr) | dbSNP gnomAD v2 |
2 | g.166228789A>C | CA349063563 | SCN1A-AS1,SCN9A | c.4108T>G (p.Cys1370Gly) c.3952T>G (p.Cys1318Gly) c.4075T>G (p.Cys1359Gly) n.612-19406A>C c.3721T>G (p.Cys1241Gly) c.3364T>G (p.Cys1122Gly) | |
2 | g.166228789A>G | CA349063567 | SCN1A-AS1,SCN9A | c.4108T>C (p.Cys1370Arg) c.3952T>C (p.Cys1318Arg) c.4075T>C (p.Cys1359Arg) n.612-19406A>G c.3721T>C (p.Cys1241Arg) c.3364T>C (p.Cys1122Arg) | |
2 | g.166228789A>T | CA349063565 | SCN1A-AS1,SCN9A | c.4108T>A (p.Cys1370Ser) c.3952T>A (p.Cys1318Ser) c.4075T>A (p.Cys1359Ser) n.612-19406A>T c.3721T>A (p.Cys1241Ser) c.3364T>A (p.Cys1122Ser) | |
2 | g.166228790T>A | CA349063568 | SCN1A-AS1,SCN9A | c.4107A>T (p.Glu1369Asp) c.3951A>T (p.Glu1317Asp) c.4074A>T (p.Glu1358Asp) n.612-19405T>A c.3720A>T (p.Glu1240Asp) c.3363A>T (p.Glu1121Asp) | |
2 | g.166228790T>C | CA1943950 | SCN1A-AS1,SCN9A | c.4107A>G (p.Glu1369=) c.3951A>G (p.Glu1317=) c.4074A>G (p.Glu1358=) n.612-19405T>C c.3720A>G (p.Glu1240=) c.3363A>G (p.Glu1121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228790T>G | CA349063570 | SCN1A-AS1,SCN9A | c.4107A>C (p.Glu1369Asp) c.3951A>C (p.Glu1317Asp) c.4074A>C (p.Glu1358Asp) n.612-19405T>G c.3720A>C (p.Glu1240Asp) c.3363A>C (p.Glu1121Asp) | |
2 | g.166228790T= | CA1304943640 | SCN1A-AS1,SCN9A | c.4107A= (p.Glu1369=) c.3951A= (p.Glu1317=) c.4074A= (p.Glu1358=) n.612-19405T= c.3720A= (p.Glu1240=) c.3363A= (p.Glu1121=) | |
2 | g.166228791del | CA2661765423 | SCN1A-AS1,SCN9A | c.4107del (p.Glu1369AspfsTer6) c.3951del (p.Glu1317AspfsTer6) c.4074del (p.Glu1358AspfsTer6) n.612-19404del c.3720del (p.Glu1240AspfsTer6) c.3363del (p.Glu1121AspfsTer6) | gnomAD v4 |
2 | g.166228791T>A | CA349063573 | SCN1A-AS1,SCN9A | c.4106A>T (p.Glu1369Val) c.3950A>T (p.Glu1317Val) c.4073A>T (p.Glu1358Val) n.612-19404T>A c.3719A>T (p.Glu1240Val) c.3362A>T (p.Glu1121Val) | |
2 | g.166228791T>C | CA349063575 | SCN1A-AS1,SCN9A | c.4106A>G (p.Glu1369Gly) c.3950A>G (p.Glu1317Gly) c.4073A>G (p.Glu1358Gly) n.612-19404T>C c.3719A>G (p.Glu1240Gly) c.3362A>G (p.Glu1121Gly) | |
2 | g.166228791T>G | CA349063578 | SCN1A-AS1,SCN9A | c.4106A>C (p.Glu1369Ala) c.3950A>C (p.Glu1317Ala) c.4073A>C (p.Glu1358Ala) n.612-19404T>G c.3719A>C (p.Glu1240Ala) c.3362A>C (p.Glu1121Ala) | gnomAD v4 |
2 | g.166228792C>A | CA349063581 | SCN1A-AS1,SCN9A | c.4105G>T (p.Glu1369Ter) c.3949G>T (p.Glu1317Ter) c.4072G>T (p.Glu1358Ter) n.612-19403C>A c.3718G>T (p.Glu1240Ter) c.3361G>T (p.Glu1121Ter) | dbSNP gnomAD v4 |
2 | g.166228792C= | CA1304943641 | SCN1A-AS1,SCN9A | c.4105G= (p.Glu1369=) c.3949G= (p.Glu1317=) c.4072G= (p.Glu1358=) n.612-19403C= c.3718G= (p.Glu1240=) c.3361G= (p.Glu1121=) | |
2 | g.166228792C>G | CA349063582 | SCN1A-AS1,SCN9A | c.4105G>C (p.Glu1369Gln) c.3949G>C (p.Glu1317Gln) c.4072G>C (p.Glu1358Gln) n.612-19403C>G c.3718G>C (p.Glu1240Gln) c.3361G>C (p.Glu1121Gln) | |
2 | g.166228792C>T | CA349063585 | SCN1A-AS1,SCN9A | c.4105G>A (p.Glu1369Lys) c.3949G>A (p.Glu1317Lys) c.4072G>A (p.Glu1358Lys) n.612-19403C>T c.3718G>A (p.Glu1240Lys) c.3361G>A (p.Glu1121Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228793G>A | CA429899179 | SCN1A-AS1,SCN9A | c.4104C>T (p.Ser1368=) c.3948C>T (p.Ser1316=) c.4071C>T (p.Ser1357=) n.612-19402G>A c.3717C>T (p.Ser1239=) c.3360C>T (p.Ser1120=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166228793G>C | CA429899180 | SCN1A-AS1,SCN9A | c.4104C>G (p.Ser1368=) c.3948C>G (p.Ser1316=) c.4071C>G (p.Ser1357=) n.612-19402G>C c.3717C>G (p.Ser1239=) c.3360C>G (p.Ser1120=) | dbSNP |
2 | g.166228793G= | CA1304943642 | SCN1A-AS1,SCN9A | c.4104C= (p.Ser1368=) c.3948C= (p.Ser1316=) c.4071C= (p.Ser1357=) n.612-19402G= c.3717C= (p.Ser1239=) c.3360C= (p.Ser1120=) | |
2 | g.166228793G>T | CA429899181 | SCN1A-AS1,SCN9A | c.4104C>A (p.Ser1368=) c.3948C>A (p.Ser1316=) c.4071C>A (p.Ser1357=) n.612-19402G>T c.3717C>A (p.Ser1239=) c.3360C>A (p.Ser1120=) | |
2 | g.166228794G>A | CA349063587 | SCN1A-AS1,SCN9A | c.4103C>T (p.Ser1368Phe) c.3947C>T (p.Ser1316Phe) c.4070C>T (p.Ser1357Phe) n.612-19401G>A c.3716C>T (p.Ser1239Phe) c.3359C>T (p.Ser1120Phe) | COSMIC COSMIC |
2 | g.166228794G>C | CA349063588 | SCN1A-AS1,SCN9A | c.4103C>G (p.Ser1368Cys) c.3947C>G (p.Ser1316Cys) c.4070C>G (p.Ser1357Cys) n.612-19401G>C c.3716C>G (p.Ser1239Cys) c.3359C>G (p.Ser1120Cys) | |
2 | g.166228794G>T | CA349063590 | SCN1A-AS1,SCN9A | c.4103C>A (p.Ser1368Tyr) c.3947C>A (p.Ser1316Tyr) c.4070C>A (p.Ser1357Tyr) n.612-19401G>T c.3716C>A (p.Ser1239Tyr) c.3359C>A (p.Ser1120Tyr) | gnomAD v4 |
2 | g.166228795A= | CA1304943643 | SCN1A-AS1,SCN9A | c.4102T= (p.Ser1368=) c.3946T= (p.Ser1316=) c.4069T= (p.Ser1357=) n.612-19400A= c.3715T= (p.Ser1239=) c.3358T= (p.Ser1120=) | |
2 | g.166228795A>C | CA349063598 | SCN1A-AS1,SCN9A | c.4102T>G (p.Ser1368Ala) c.3946T>G (p.Ser1316Ala) c.4069T>G (p.Ser1357Ala) n.612-19400A>C c.3715T>G (p.Ser1239Ala) c.3358T>G (p.Ser1120Ala) | |
2 | g.166228795A>G | CA349063593 | SCN1A-AS1,SCN9A | c.4102T>C (p.Ser1368Pro) c.3946T>C (p.Ser1316Pro) c.4069T>C (p.Ser1357Pro) n.612-19400A>G c.3715T>C (p.Ser1239Pro) c.3358T>C (p.Ser1120Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228795A>T | CA349063596 | SCN1A-AS1,SCN9A | c.4102T>A (p.Ser1368Thr) c.3946T>A (p.Ser1316Thr) c.4069T>A (p.Ser1357Thr) n.612-19400A>T c.3715T>A (p.Ser1239Thr) c.3358T>A (p.Ser1120Thr) | |
2 | g.166228796A= | CA1304943644 | SCN1A-AS1,SCN9A | c.4101T= (p.Arg1367=) c.3945T= (p.Arg1315=) c.4068T= (p.Arg1356=) n.612-19399A= c.3714T= (p.Arg1238=) c.3357T= (p.Arg1119=) | |
2 | g.166228796A>C | CA429899186 | SCN1A-AS1,SCN9A | c.4101T>G (p.Arg1367=) c.3945T>G (p.Arg1315=) c.4068T>G (p.Arg1356=) n.612-19399A>C c.3714T>G (p.Arg1238=) c.3357T>G (p.Arg1119=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228796A>G | CA429899187 | SCN1A-AS1,SCN9A | c.4101T>C (p.Arg1367=) c.3945T>C (p.Arg1315=) c.4068T>C (p.Arg1356=) n.612-19399A>G c.3714T>C (p.Arg1238=) c.3357T>C (p.Arg1119=) | |
2 | g.166228796A>T | CA429899188 | SCN1A-AS1,SCN9A | c.4101T>A (p.Arg1367=) c.3945T>A (p.Arg1315=) c.4068T>A (p.Arg1356=) n.612-19399A>T c.3714T>A (p.Arg1238=) c.3357T>A (p.Arg1119=) | |
2 | g.166228797C>A | CA349063601 | SCN1A-AS1,SCN9A | c.4100G>T (p.Arg1367Leu) c.3944G>T (p.Arg1315Leu) c.4067G>T (p.Arg1356Leu) n.612-19398C>A c.3713G>T (p.Arg1238Leu) c.3356G>T (p.Arg1119Leu) | gnomAD v4 |
2 | g.166228797C= | CA1304943645 | SCN1A-AS1,SCN9A | c.4100G= (p.Arg1367=) c.3944G= (p.Arg1315=) c.4067G= (p.Arg1356=) n.612-19398C= c.3713G= (p.Arg1238=) c.3356G= (p.Arg1119=) | |
2 | g.166228797C>G | CA349063604 | SCN1A-AS1,SCN9A | c.4100G>C (p.Arg1367Pro) c.3944G>C (p.Arg1315Pro) c.4067G>C (p.Arg1356Pro) n.612-19398C>G c.3713G>C (p.Arg1238Pro) c.3356G>C (p.Arg1119Pro) | |
2 | g.166228797C>T | CA1943951 | SCN1A-AS1,SCN9A | c.4100G>A (p.Arg1367His) c.3944G>A (p.Arg1315His) c.4067G>A (p.Arg1356His) n.612-19398C>T c.3713G>A (p.Arg1238His) c.3356G>A (p.Arg1119His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228798G>A | CA59810279 | SCN1A-AS1,SCN9A | c.4099C>T (p.Arg1367Cys) c.3943C>T (p.Arg1315Cys) c.4066C>T (p.Arg1356Cys) n.612-19397G>A c.3712C>T (p.Arg1238Cys) c.3355C>T (p.Arg1119Cys) | ClinVar dbSNP COSMIC COSMIC |
2 | g.166228798G>C | CA349063607 | SCN1A-AS1,SCN9A | c.4099C>G (p.Arg1367Gly) c.3943C>G (p.Arg1315Gly) c.4066C>G (p.Arg1356Gly) n.612-19397G>C c.3712C>G (p.Arg1238Gly) c.3355C>G (p.Arg1119Gly) | |
2 | g.166228798G= | CA1304943646 | SCN1A-AS1,SCN9A | c.4099C= (p.Arg1367=) c.3943C= (p.Arg1315=) c.4066C= (p.Arg1356=) n.612-19397G= c.3712C= (p.Arg1238=) c.3355C= (p.Arg1119=) | |
2 | g.166228798G>T | CA349063609 | SCN1A-AS1,SCN9A | c.4099C>A (p.Arg1367Ser) c.3943C>A (p.Arg1315Ser) c.4066C>A (p.Arg1356Ser) n.612-19397G>T c.3712C>A (p.Arg1238Ser) c.3355C>A (p.Arg1119Ser) | |
2 | g.166228799A>C | CA349063611 | SCN1A-AS1,SCN9A | c.4098T>G (p.Asn1366Lys) c.3942T>G (p.Asn1314Lys) c.4065T>G (p.Asn1355Lys) n.612-19396A>C c.3711T>G (p.Asn1237Lys) c.3354T>G (p.Asn1118Lys) | |
2 | g.166228799A>G | CA429899191 | SCN1A-AS1,SCN9A | c.4098T>C (p.Asn1366=) c.3942T>C (p.Asn1314=) c.4065T>C (p.Asn1355=) n.612-19396A>G c.3711T>C (p.Asn1237=) c.3354T>C (p.Asn1118=) | |
2 | g.166228799A>T | CA349063613 | SCN1A-AS1,SCN9A | c.4098T>A (p.Asn1366Lys) c.3942T>A (p.Asn1314Lys) c.4065T>A (p.Asn1355Lys) n.612-19396A>T c.3711T>A (p.Asn1237Lys) c.3354T>A (p.Asn1118Lys) | |
2 | g.166228800T>A | CA349063616 | SCN1A-AS1,SCN9A | c.4097A>T (p.Asn1366Ile) c.3941A>T (p.Asn1314Ile) c.4064A>T (p.Asn1355Ile) n.612-19395T>A c.3710A>T (p.Asn1237Ile) c.3353A>T (p.Asn1118Ile) | |
2 | g.166228800T>C | CA349063617 | SCN1A-AS1,SCN9A | c.4097A>G (p.Asn1366Ser) c.3941A>G (p.Asn1314Ser) c.4064A>G (p.Asn1355Ser) n.612-19395T>C c.3710A>G (p.Asn1237Ser) c.3353A>G (p.Asn1118Ser) | gnomAD v4 |
2 | g.166228800T>G | CA349063618 | SCN1A-AS1,SCN9A | c.4097A>C (p.Asn1366Thr) c.3941A>C (p.Asn1314Thr) c.4064A>C (p.Asn1355Thr) n.612-19395T>G c.3710A>C (p.Asn1237Thr) c.3353A>C (p.Asn1118Thr) | |
2 | g.166228801T>A | CA349063624 | SCN1A-AS1,SCN9A | c.4096A>T (p.Asn1366Tyr) c.3940A>T (p.Asn1314Tyr) c.4063A>T (p.Asn1355Tyr) n.612-19394T>A c.3709A>T (p.Asn1237Tyr) c.3352A>T (p.Asn1118Tyr) | |
2 | g.166228801T>C | CA349063626 | SCN1A-AS1,SCN9A | c.4096A>G (p.Asn1366Asp) c.3940A>G (p.Asn1314Asp) c.4063A>G (p.Asn1355Asp) n.612-19394T>C c.3709A>G (p.Asn1237Asp) c.3352A>G (p.Asn1118Asp) | |
2 | g.166228801T>G | CA349063621 | SCN1A-AS1,SCN9A | c.4096A>C (p.Asn1366His) c.3940A>C (p.Asn1314His) c.4063A>C (p.Asn1355His) n.612-19394T>G c.3709A>C (p.Asn1237His) c.3352A>C (p.Asn1118His) | dbSNP |
2 | g.166228801T= | CA1304943647 | SCN1A-AS1,SCN9A | c.4096A= (p.Asn1366=) c.3940A= (p.Asn1314=) c.4063A= (p.Asn1355=) n.612-19394T= c.3709A= (p.Asn1237=) c.3352A= (p.Asn1118=) | |
2 | g.166228802T>A | CA429899196 | SCN1A-AS1,SCN9A | c.4095A>T (p.Pro1365=) c.3939A>T (p.Pro1313=) c.4062A>T (p.Pro1354=) n.612-19393T>A c.3708A>T (p.Pro1236=) c.3351A>T (p.Pro1117=) | |
2 | g.166228802T>C | CA429899197 | SCN1A-AS1,SCN9A | c.4095A>G (p.Pro1365=) c.3939A>G (p.Pro1313=) c.4062A>G (p.Pro1354=) n.612-19393T>C c.3708A>G (p.Pro1236=) c.3351A>G (p.Pro1117=) | |
2 | g.166228802T>G | CA429899198 | SCN1A-AS1,SCN9A | c.4095A>C (p.Pro1365=) c.3939A>C (p.Pro1313=) c.4062A>C (p.Pro1354=) n.612-19393T>G c.3708A>C (p.Pro1236=) c.3351A>C (p.Pro1117=) | |
2 | g.166228803G>A | CA349063629 | SCN1A-AS1,SCN9A | c.4094C>T (p.Pro1365Leu) c.3938C>T (p.Pro1313Leu) c.4061C>T (p.Pro1354Leu) n.612-19392G>A c.3707C>T (p.Pro1236Leu) c.3350C>T (p.Pro1117Leu) | gnomAD v4 |
2 | g.166228803G>C | CA349063630 | SCN1A-AS1,SCN9A | c.4094C>G (p.Pro1365Arg) c.3938C>G (p.Pro1313Arg) c.4061C>G (p.Pro1354Arg) n.612-19392G>C c.3707C>G (p.Pro1236Arg) c.3350C>G (p.Pro1117Arg) | |
2 | g.166228803G>T | CA349063632 | SCN1A-AS1,SCN9A | c.4094C>A (p.Pro1365Gln) c.3938C>A (p.Pro1313Gln) c.4061C>A (p.Pro1354Gln) n.612-19392G>T c.3707C>A (p.Pro1236Gln) c.3350C>A (p.Pro1117Gln) | |
2 | g.166228804G>A | CA349063636 | SCN1A-AS1,SCN9A | c.4093C>T (p.Pro1365Ser) c.3937C>T (p.Pro1313Ser) c.4060C>T (p.Pro1354Ser) n.612-19391G>A c.3706C>T (p.Pro1236Ser) c.3349C>T (p.Pro1117Ser) | |
2 | g.166228804G>C | CA349063639 | SCN1A-AS1,SCN9A | c.4093C>G (p.Pro1365Ala) c.3937C>G (p.Pro1313Ala) c.4060C>G (p.Pro1354Ala) n.612-19391G>C c.3706C>G (p.Pro1236Ala) c.3349C>G (p.Pro1117Ala) | ClinVar dbSNP |
2 | g.166228804G= | CA1304943648 | SCN1A-AS1,SCN9A | c.4093C= (p.Pro1365=) c.3937C= (p.Pro1313=) c.4060C= (p.Pro1354=) n.612-19391G= c.3706C= (p.Pro1236=) c.3349C= (p.Pro1117=) | |
2 | g.166228804G>T | CA349063642 | SCN1A-AS1,SCN9A | c.4093C>A (p.Pro1365Thr) c.3937C>A (p.Pro1313Thr) c.4060C>A (p.Pro1354Thr) n.612-19391G>T c.3706C>A (p.Pro1236Thr) c.3349C>A (p.Pro1117Thr) | |
2 | g.166228805A>C | CA429899199 | SCN1A-AS1,SCN9A | c.4092T>G (p.Val1364=) c.3936T>G (p.Val1312=) c.4059T>G (p.Val1353=) n.612-19390A>C c.3705T>G (p.Val1235=) c.3348T>G (p.Val1116=) | |
2 | g.166228805A>G | CA429899200 | SCN1A-AS1,SCN9A | c.4092T>C (p.Val1364=) c.3936T>C (p.Val1312=) c.4059T>C (p.Val1353=) n.612-19390A>G c.3705T>C (p.Val1235=) c.3348T>C (p.Val1116=) | |
2 | g.166228805A>T | CA429899201 | SCN1A-AS1,SCN9A | c.4092T>A (p.Val1364=) c.3936T>A (p.Val1312=) c.4059T>A (p.Val1353=) n.612-19390A>T c.3705T>A (p.Val1235=) c.3348T>A (p.Val1116=) | |
2 | g.166228806A>C | CA349063650 | SCN1A-AS1,SCN9A | c.4091T>G (p.Val1364Gly) c.3935T>G (p.Val1312Gly) c.4058T>G (p.Val1353Gly) n.612-19389A>C c.3704T>G (p.Val1235Gly) c.3347T>G (p.Val1116Gly) | |
2 | g.166228806A>G | CA349063645 | SCN1A-AS1,SCN9A | c.4091T>C (p.Val1364Ala) c.3935T>C (p.Val1312Ala) c.4058T>C (p.Val1353Ala) n.612-19389A>G c.3704T>C (p.Val1235Ala) c.3347T>C (p.Val1116Ala) | |
2 | g.166228806A>T | CA349063648 | SCN1A-AS1,SCN9A | c.4091T>A (p.Val1364Asp) c.3935T>A (p.Val1312Asp) c.4058T>A (p.Val1353Asp) n.612-19389A>T c.3704T>A (p.Val1235Asp) c.3347T>A (p.Val1116Asp) | |
2 | g.166228807C>A | CA349063653 | SCN1A-AS1,SCN9A | c.4090G>T (p.Val1364Phe) c.3934G>T (p.Val1312Phe) c.4057G>T (p.Val1353Phe) n.612-19388C>A c.3703G>T (p.Val1235Phe) c.3346G>T (p.Val1116Phe) | |
2 | g.166228807C>G | CA349063655 | SCN1A-AS1,SCN9A | c.4090G>C (p.Val1364Leu) c.3934G>C (p.Val1312Leu) c.4057G>C (p.Val1353Leu) n.612-19388C>G c.3703G>C (p.Val1235Leu) c.3346G>C (p.Val1116Leu) | |
2 | g.166228807C>T | CA349063657 | SCN1A-AS1,SCN9A | c.4090G>A (p.Val1364Ile) c.3934G>A (p.Val1312Ile) c.4057G>A (p.Val1353Ile) n.612-19388C>T c.3703G>A (p.Val1235Ile) c.3346G>A (p.Val1116Ile) | |
2 | g.166228808T>A | CA349063660 | SCN1A-AS1,SCN9A | c.4089A>T (p.Gln1363His) c.3933A>T (p.Gln1311His) c.4056A>T (p.Gln1352His) n.612-19387T>A c.3702A>T (p.Gln1234His) c.3345A>T (p.Gln1115His) | |
2 | g.166228808T>C | CA59810284 | SCN1A-AS1,SCN9A | c.4089A>G (p.Gln1363=) c.3933A>G (p.Gln1311=) c.4056A>G (p.Gln1352=) n.612-19387T>C c.3702A>G (p.Gln1234=) c.3345A>G (p.Gln1115=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228808T>G | CA349063667 | SCN1A-AS1,SCN9A | c.4089A>C (p.Gln1363His) c.3933A>C (p.Gln1311His) c.4056A>C (p.Gln1352His) n.612-19387T>G c.3702A>C (p.Gln1234His) c.3345A>C (p.Gln1115His) | |
2 | g.166228808T= | CA1304943649 | SCN1A-AS1,SCN9A | c.4089A= (p.Gln1363=) c.3933A= (p.Gln1311=) c.4056A= (p.Gln1352=) n.612-19387T= c.3702A= (p.Gln1234=) c.3345A= (p.Gln1115=) | |
2 | g.166228809T>A | CA349063669 | SCN1A-AS1,SCN9A | c.4088A>T (p.Gln1363Leu) c.3932A>T (p.Gln1311Leu) c.4055A>T (p.Gln1352Leu) n.612-19386T>A c.3701A>T (p.Gln1234Leu) c.3344A>T (p.Gln1115Leu) | |
2 | g.166228809T>C | CA1943952 | SCN1A-AS1,SCN9A | c.4088A>G (p.Gln1363Arg) c.3932A>G (p.Gln1311Arg) c.4055A>G (p.Gln1352Arg) n.612-19386T>C c.3701A>G (p.Gln1234Arg) c.3344A>G (p.Gln1115Arg) | dbSNP ExAC gnomAD v4 |
2 | g.166228809T>G | CA349063673 | SCN1A-AS1,SCN9A | c.4088A>C (p.Gln1363Pro) c.3932A>C (p.Gln1311Pro) c.4055A>C (p.Gln1352Pro) n.612-19386T>G c.3701A>C (p.Gln1234Pro) c.3344A>C (p.Gln1115Pro) | |
2 | g.166228809T= | CA1304943650 | SCN1A-AS1,SCN9A | c.4088A= (p.Gln1363=) c.3932A= (p.Gln1311=) c.4055A= (p.Gln1352=) n.612-19386T= c.3701A= (p.Gln1234=) c.3344A= (p.Gln1115=) | |
2 | g.166228810G>A | CA349063679 | SCN1A-AS1,SCN9A | c.4087C>T (p.Gln1363Ter) c.3931C>T (p.Gln1311Ter) c.4054C>T (p.Gln1352Ter) n.612-19385G>A c.3700C>T (p.Gln1234Ter) c.3343C>T (p.Gln1115Ter) | dbSNP gnomAD v4 |
2 | g.166228810G>C | CA349063682 | SCN1A-AS1,SCN9A | c.4087C>G (p.Gln1363Glu) c.3931C>G (p.Gln1311Glu) c.4054C>G (p.Gln1352Glu) n.612-19385G>C c.3700C>G (p.Gln1234Glu) c.3343C>G (p.Gln1115Glu) | |
2 | g.166228810G= | CA1304943651 | SCN1A-AS1,SCN9A | c.4087C= (p.Gln1363=) c.3931C= (p.Gln1311=) c.4054C= (p.Gln1352=) n.612-19385G= c.3700C= (p.Gln1234=) c.3343C= (p.Gln1115=) | |
2 | g.166228810G>T | CA349063686 | SCN1A-AS1,SCN9A | c.4087C>A (p.Gln1363Lys) c.3931C>A (p.Gln1311Lys) c.4054C>A (p.Gln1352Lys) n.612-19385G>T c.3700C>A (p.Gln1234Lys) c.3343C>A (p.Gln1115Lys) | |
2 | g.166228811A>C | CA349063689 | SCN1A-AS1,SCN9A | c.4086T>G (p.Ser1362Arg) c.3930T>G (p.Ser1310Arg) c.4053T>G (p.Ser1351Arg) n.612-19384A>C c.3699T>G (p.Ser1233Arg) c.3342T>G (p.Ser1114Arg) | |
2 | g.166228811A>G | CA429899206 | SCN1A-AS1,SCN9A | c.4086T>C (p.Ser1362=) c.3930T>C (p.Ser1310=) c.4053T>C (p.Ser1351=) n.612-19384A>G c.3699T>C (p.Ser1233=) c.3342T>C (p.Ser1114=) | |
2 | g.166228811A>T | CA349063692 | SCN1A-AS1,SCN9A | c.4086T>A (p.Ser1362Arg) c.3930T>A (p.Ser1310Arg) c.4053T>A (p.Ser1351Arg) n.612-19384A>T c.3699T>A (p.Ser1233Arg) c.3342T>A (p.Ser1114Arg) | |
2 | g.166228812C>A | CA349063696 | SCN1A-AS1,SCN9A | c.4085G>T (p.Ser1362Ile) c.3929G>T (p.Ser1310Ile) c.4052G>T (p.Ser1351Ile) n.612-19383C>A c.3698G>T (p.Ser1233Ile) c.3341G>T (p.Ser1114Ile) | |
2 | g.166228812C>G | CA349063699 | SCN1A-AS1,SCN9A | c.4085G>C (p.Ser1362Thr) c.3929G>C (p.Ser1310Thr) c.4052G>C (p.Ser1351Thr) n.612-19383C>G c.3698G>C (p.Ser1233Thr) c.3341G>C (p.Ser1114Thr) | |
2 | g.166228812C>T | CA349063702 | SCN1A-AS1,SCN9A | c.4085G>A (p.Ser1362Asn) c.3929G>A (p.Ser1310Asn) c.4052G>A (p.Ser1351Asn) n.612-19383C>T c.3698G>A (p.Ser1233Asn) c.3341G>A (p.Ser1114Asn) | |
2 | g.166228812_166228813delinsCT | CA1304943652 | SCN1A-AS1,SCN9A | c.4084_4085delinsAG (p.Ser1362=) c.3928_3929delinsAG (p.Ser1310=) c.4051_4052delinsAG (p.Ser1351=) n.612-19383_612-19382delinsCT c.3697_3698delinsAG (p.Ser1233=) c.3340_3341delinsAG (p.Ser1114=) | |
2 | g.166228813T>A | CA349063706 | SCN1A-AS1,SCN9A | c.4084A>T (p.Ser1362Cys) c.3928A>T (p.Ser1310Cys) c.4051A>T (p.Ser1351Cys) n.612-19382T>A c.3697A>T (p.Ser1233Cys) c.3340A>T (p.Ser1114Cys) | |
2 | g.166228813T>C | CA1943954 | SCN1A-AS1,SCN9A | c.4084A>G (p.Ser1362Gly) c.3928A>G (p.Ser1310Gly) c.4051A>G (p.Ser1351Gly) n.612-19382T>C c.3697A>G (p.Ser1233Gly) c.3340A>G (p.Ser1114Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228813T>G | CA349063711 | SCN1A-AS1,SCN9A | c.4084A>C (p.Ser1362Arg) c.3928A>C (p.Ser1310Arg) c.4051A>C (p.Ser1351Arg) n.612-19382T>G c.3697A>C (p.Ser1233Arg) c.3340A>C (p.Ser1114Arg) | |
2 | g.166228813T= | CA1304943653 | SCN1A-AS1,SCN9A | c.4084A= (p.Ser1362=) c.3928A= (p.Ser1310=) c.4051A= (p.Ser1351=) n.612-19382T= c.3697A= (p.Ser1233=) c.3340A= (p.Ser1114=) | |
2 | g.166228814del | CA1943953 | SCN1A-AS1,SCN9A | c.4084del (p.Ser1362ValfsTer13) c.3928del (p.Ser1310ValfsTer13) c.4051del (p.Ser1351ValfsTer13) n.612-19381del c.3697del (p.Ser1233ValfsTer13) c.3340del (p.Ser1114ValfsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228814T>A | CA429899208 | SCN1A-AS1,SCN9A | c.4083A>T (p.Ala1361=) c.3927A>T (p.Ala1309=) c.4050A>T (p.Ala1350=) n.612-19381T>A c.3696A>T (p.Ala1232=) c.3339A>T (p.Ala1113=) | |
2 | g.166228814T>C | CA429899210 | SCN1A-AS1,SCN9A | c.4083A>G (p.Ala1361=) c.3927A>G (p.Ala1309=) c.4050A>G (p.Ala1350=) n.612-19381T>C c.3696A>G (p.Ala1232=) c.3339A>G (p.Ala1113=) | |
2 | g.166228814T>G | CA429899212 | SCN1A-AS1,SCN9A | c.4083A>C (p.Ala1361=) c.3927A>C (p.Ala1309=) c.4050A>C (p.Ala1350=) n.612-19381T>G c.3696A>C (p.Ala1232=) c.3339A>C (p.Ala1113=) | |
2 | g.166228815G>A | CA349063715 | SCN1A-AS1,SCN9A | c.4082C>T (p.Ala1361Val) c.3926C>T (p.Ala1309Val) c.4049C>T (p.Ala1350Val) n.612-19380G>A c.3695C>T (p.Ala1232Val) c.3338C>T (p.Ala1113Val) | |
2 | g.166228815G>C | CA349063720 | SCN1A-AS1,SCN9A | c.4082C>G (p.Ala1361Gly) c.3926C>G (p.Ala1309Gly) c.4049C>G (p.Ala1350Gly) n.612-19380G>C c.3695C>G (p.Ala1232Gly) c.3338C>G (p.Ala1113Gly) | gnomAD v4 |
2 | g.166228815G>T | CA349063717 | SCN1A-AS1,SCN9A | c.4082C>A (p.Ala1361Glu) c.3926C>A (p.Ala1309Glu) c.4049C>A (p.Ala1350Glu) n.612-19380G>T c.3695C>A (p.Ala1232Glu) c.3338C>A (p.Ala1113Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.166228816C>A | CA349063723 | SCN1A-AS1,SCN9A | c.4081G>T (p.Ala1361Ser) c.3925G>T (p.Ala1309Ser) c.4048G>T (p.Ala1350Ser) n.612-19379C>A c.3694G>T (p.Ala1232Ser) c.3337G>T (p.Ala1113Ser) | |
2 | g.166228816C>G | CA349063727 | SCN1A-AS1,SCN9A | c.4081G>C (p.Ala1361Pro) c.3925G>C (p.Ala1309Pro) c.4048G>C (p.Ala1350Pro) n.612-19379C>G c.3694G>C (p.Ala1232Pro) c.3337G>C (p.Ala1113Pro) | |
2 | g.166228816C>T | CA349063729 | SCN1A-AS1,SCN9A | c.4081G>A (p.Ala1361Thr) c.3925G>A (p.Ala1309Thr) c.4048G>A (p.Ala1350Thr) n.612-19379C>T c.3694G>A (p.Ala1232Thr) c.3337G>A (p.Ala1113Thr) | |
2 | g.166228817A>C | CA429899214 | SCN1A-AS1,SCN9A | c.4080T>G (p.Pro1360=) c.3924T>G (p.Pro1308=) c.4047T>G (p.Pro1349=) n.612-19378A>C c.3693T>G (p.Pro1231=) c.3336T>G (p.Pro1112=) | ClinVar |
2 | g.166228817A>G | CA429899215 | SCN1A-AS1,SCN9A | c.4080T>C (p.Pro1360=) c.3924T>C (p.Pro1308=) c.4047T>C (p.Pro1349=) n.612-19378A>G c.3693T>C (p.Pro1231=) c.3336T>C (p.Pro1112=) | gnomAD v4 |
2 | g.166228817A>T | CA429899216 | SCN1A-AS1,SCN9A | c.4080T>A (p.Pro1360=) c.3924T>A (p.Pro1308=) c.4047T>A (p.Pro1349=) n.612-19378A>T c.3693T>A (p.Pro1231=) c.3336T>A (p.Pro1112=) | |
2 | g.166228818G>A | CA349063732 | SCN1A-AS1,SCN9A | c.4079C>T (p.Pro1360Leu) c.3923C>T (p.Pro1308Leu) c.4046C>T (p.Pro1349Leu) n.612-19377G>A c.3692C>T (p.Pro1231Leu) c.3335C>T (p.Pro1112Leu) | dbSNP COSMIC COSMIC |
2 | g.166228818G>C | CA349063735 | SCN1A-AS1,SCN9A | c.4079C>G (p.Pro1360Arg) c.3923C>G (p.Pro1308Arg) c.4046C>G (p.Pro1349Arg) n.612-19377G>C c.3692C>G (p.Pro1231Arg) c.3335C>G (p.Pro1112Arg) | |
2 | g.166228818G= | CA1304943654 | SCN1A-AS1,SCN9A | c.4079C= (p.Pro1360=) c.3923C= (p.Pro1308=) c.4046C= (p.Pro1349=) n.612-19377G= c.3692C= (p.Pro1231=) c.3335C= (p.Pro1112=) | |
2 | g.166228818G>T | CA349063738 | SCN1A-AS1,SCN9A | c.4079C>A (p.Pro1360His) c.3923C>A (p.Pro1308His) c.4046C>A (p.Pro1349His) n.612-19377G>T c.3692C>A (p.Pro1231His) c.3335C>A (p.Pro1112His) | |
2 | g.166228819G>A | CA349063747 | SCN1A-AS1,SCN9A | c.4078C>T (p.Pro1360Ser) c.3922C>T (p.Pro1308Ser) c.4045C>T (p.Pro1349Ser) n.612-19376G>A c.3691C>T (p.Pro1231Ser) c.3334C>T (p.Pro1112Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228819G>C | CA349063739 | SCN1A-AS1,SCN9A | c.4078C>G (p.Pro1360Ala) c.3922C>G (p.Pro1308Ala) c.4045C>G (p.Pro1349Ala) n.612-19376G>C c.3691C>G (p.Pro1231Ala) c.3334C>G (p.Pro1112Ala) | |
2 | g.166228819G= | CA1304943655 | SCN1A-AS1,SCN9A | c.4078C= (p.Pro1360=) c.3922C= (p.Pro1308=) c.4045C= (p.Pro1349=) n.612-19376G= c.3691C= (p.Pro1231=) c.3334C= (p.Pro1112=) | |
2 | g.166228819G>T | CA349063744 | SCN1A-AS1,SCN9A | c.4078C>A (p.Pro1360Thr) c.3922C>A (p.Pro1308Thr) c.4045C>A (p.Pro1349Thr) n.612-19376G>T c.3691C>A (p.Pro1231Thr) c.3334C>A (p.Pro1112Thr) | |
2 | g.166228819_166228820delinsGA | CA1304943656 | SCN1A-AS1,SCN9A | c.4077_4078delinsTC (p.Phe1359=) c.3921_3922delinsTC (p.Phe1307=) c.4044_4045delinsTC (p.Phe1348=) n.612-19376_612-19375delinsGA c.3690_3691delinsTC (p.Phe1230=) c.3333_3334delinsTC (p.Phe1111=) | |
2 | g.166228820A= | CA1304943657 | SCN1A-AS1,SCN9A | c.4077T= (p.Phe1359=) c.3921T= (p.Phe1307=) c.4044T= (p.Phe1348=) n.612-19375A= c.3690T= (p.Phe1230=) c.3333T= (p.Phe1111=) | |
2 | g.166228820A>C | CA349063750 | SCN1A-AS1,SCN9A | c.4077T>G (p.Phe1359Leu) c.3921T>G (p.Phe1307Leu) c.4044T>G (p.Phe1348Leu) n.612-19375A>C c.3690T>G (p.Phe1230Leu) c.3333T>G (p.Phe1111Leu) | |
2 | g.166228820A>G | CA429899220 | SCN1A-AS1,SCN9A | c.4077T>C (p.Phe1359=) c.3921T>C (p.Phe1307=) c.4044T>C (p.Phe1348=) n.612-19375A>G c.3690T>C (p.Phe1230=) c.3333T>C (p.Phe1111=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228820A>T | CA349063754 | SCN1A-AS1,SCN9A | c.4077T>A (p.Phe1359Leu) c.3921T>A (p.Phe1307Leu) c.4044T>A (p.Phe1348Leu) n.612-19375A>T c.3690T>A (p.Phe1230Leu) c.3333T>A (p.Phe1111Leu) | |
2 | g.166228822del | CA1304943658 | SCN1A-AS1,SCN9A | c.4077del (p.Pro1360LeufsTer15) c.3921del (p.Pro1308LeufsTer15) c.4044del (p.Pro1349LeufsTer15) n.612-19373del c.3690del (p.Pro1231LeufsTer15) c.3333del (p.Pro1112LeufsTer15) | dbSNP |
2 | g.166228821A= | CA1304943659 | SCN1A-AS1,SCN9A | c.4076T= (p.Phe1359=) c.3920T= (p.Phe1307=) c.4043T= (p.Phe1348=) n.612-19374A= c.3689T= (p.Phe1230=) c.3332T= (p.Phe1111=) | |
2 | g.166228821A>C | CA349063757 | SCN1A-AS1,SCN9A | c.4076T>G (p.Phe1359Cys) c.3920T>G (p.Phe1307Cys) c.4043T>G (p.Phe1348Cys) n.612-19374A>C c.3689T>G (p.Phe1230Cys) c.3332T>G (p.Phe1111Cys) | |
2 | g.166228821A>G | CA349063759 | SCN1A-AS1,SCN9A | c.4076T>C (p.Phe1359Ser) c.3920T>C (p.Phe1307Ser) c.4043T>C (p.Phe1348Ser) n.612-19374A>G c.3689T>C (p.Phe1230Ser) c.3332T>C (p.Phe1111Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228821A>T | CA349063761 | SCN1A-AS1,SCN9A | c.4076T>A (p.Phe1359Tyr) c.3920T>A (p.Phe1307Tyr) c.4043T>A (p.Phe1348Tyr) n.612-19374A>T c.3689T>A (p.Phe1230Tyr) c.3332T>A (p.Phe1111Tyr) | |
2 | g.166228822A= | CA1304943660 | SCN1A-AS1,SCN9A | c.4075T= (p.Phe1359=) c.3919T= (p.Phe1307=) c.4042T= (p.Phe1348=) n.612-19373A= c.3688T= (p.Phe1230=) c.3331T= (p.Phe1111=) | |
2 | g.166228822A>C | CA349063765 | SCN1A-AS1,SCN9A | c.4075T>G (p.Phe1359Val) c.3919T>G (p.Phe1307Val) c.4042T>G (p.Phe1348Val) n.612-19373A>C c.3688T>G (p.Phe1230Val) c.3331T>G (p.Phe1111Val) | |
2 | g.166228822A>G | CA349063775 | SCN1A-AS1,SCN9A | c.4075T>C (p.Phe1359Leu) c.3919T>C (p.Phe1307Leu) c.4042T>C (p.Phe1348Leu) n.612-19373A>G c.3688T>C (p.Phe1230Leu) c.3331T>C (p.Phe1111Leu) | dbSNP |
2 | g.166228822A>T | CA349063771 | SCN1A-AS1,SCN9A | c.4075T>A (p.Phe1359Ile) c.3919T>A (p.Phe1307Ile) c.4042T>A (p.Phe1348Ile) n.612-19373A>T c.3688T>A (p.Phe1230Ile) c.3331T>A (p.Phe1111Ile) | |
2 | g.166228823C>A | CA429899221 | SCN1A-AS1,SCN9A | c.4074G>T (p.Arg1358=) c.3918G>T (p.Arg1306=) c.4041G>T (p.Arg1347=) n.612-19372C>A c.3687G>T (p.Arg1229=) c.3330G>T (p.Arg1110=) | |
2 | g.166228823C>G | CA429899222 | SCN1A-AS1,SCN9A | c.4074G>C (p.Arg1358=) c.3918G>C (p.Arg1306=) c.4041G>C (p.Arg1347=) n.612-19372C>G c.3687G>C (p.Arg1229=) c.3330G>C (p.Arg1110=) | |
2 | g.166228823C>T | CA429899224 | SCN1A-AS1,SCN9A | c.4074G>A (p.Arg1358=) c.3918G>A (p.Arg1306=) c.4041G>A (p.Arg1347=) n.612-19372C>T c.3687G>A (p.Arg1229=) c.3330G>A (p.Arg1110=) | |
2 | g.166228824C>A | CA349063779 | SCN1A-AS1,SCN9A | c.4073G>T (p.Arg1358Leu) c.3917G>T (p.Arg1306Leu) c.4040G>T (p.Arg1347Leu) n.612-19371C>A c.3686G>T (p.Arg1229Leu) c.3329G>T (p.Arg1110Leu) | |
2 | g.166228824C= | CA1304943661 | SCN1A-AS1,SCN9A | c.4073G= (p.Arg1358=) c.3917G= (p.Arg1306=) c.4040G= (p.Arg1347=) n.612-19371C= c.3686G= (p.Arg1229=) c.3329G= (p.Arg1110=) | |
2 | g.166228824C>G | CA1943955 | SCN1A-AS1,SCN9A | c.4073G>C (p.Arg1358Pro) c.3917G>C (p.Arg1306Pro) c.4040G>C (p.Arg1347Pro) n.612-19371C>G c.3686G>C (p.Arg1229Pro) c.3329G>C (p.Arg1110Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228824C>T | CA242197 | SCN1A-AS1,SCN9A | c.4073G>A (p.Arg1358Gln) c.3917G>A (p.Arg1306Gln) c.4040G>A (p.Arg1347Gln) n.612-19371C>T c.3686G>A (p.Arg1229Gln) c.3329G>A (p.Arg1110Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228825G>A | CA349063786 | SCN1A-AS1,SCN9A | c.4072C>T (p.Arg1358Trp) c.3916C>T (p.Arg1306Trp) c.4039C>T (p.Arg1347Trp) n.612-19370G>A c.3685C>T (p.Arg1229Trp) c.3328C>T (p.Arg1110Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228825G>C | CA349063789 | SCN1A-AS1,SCN9A | c.4072C>G (p.Arg1358Gly) c.3916C>G (p.Arg1306Gly) c.4039C>G (p.Arg1347Gly) n.612-19370G>C c.3685C>G (p.Arg1229Gly) c.3328C>G (p.Arg1110Gly) | |
2 | g.166228825G= | CA1304943662 | SCN1A-AS1,SCN9A | c.4072C= (p.Arg1358=) c.3916C= (p.Arg1306=) c.4039C= (p.Arg1347=) n.612-19370G= c.3685C= (p.Arg1229=) c.3328C= (p.Arg1110=) | |
2 | g.166228825G>T | CA429899226 | SCN1A-AS1,SCN9A | c.4072C>A (p.Arg1358=) c.3916C>A (p.Arg1306=) c.4039C>A (p.Arg1347=) n.612-19370G>T c.3685C>A (p.Arg1229=) c.3328C>A (p.Arg1110=) | dbSNP gnomAD v4 |
2 | g.166228826T>A | CA429899227 | SCN1A-AS1,SCN9A | c.4071A>T (p.Ser1357=) c.3915A>T (p.Ser1305=) c.4038A>T (p.Ser1346=) n.612-19369T>A c.3684A>T (p.Ser1228=) c.3327A>T (p.Ser1109=) | |
2 | g.166228826T>C | CA429899228 | SCN1A-AS1,SCN9A | c.4071A>G (p.Ser1357=) c.3915A>G (p.Ser1305=) c.4038A>G (p.Ser1346=) n.612-19369T>C c.3684A>G (p.Ser1228=) c.3327A>G (p.Ser1109=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228826T>G | CA429899229 | SCN1A-AS1,SCN9A | c.4071A>C (p.Ser1357=) c.3915A>C (p.Ser1305=) c.4038A>C (p.Ser1346=) n.612-19369T>G c.3684A>C (p.Ser1228=) c.3327A>C (p.Ser1109=) | |
2 | g.166228826T= | CA1304943663 | SCN1A-AS1,SCN9A | c.4071A= (p.Ser1357=) c.3915A= (p.Ser1305=) c.4038A= (p.Ser1346=) n.612-19369T= c.3684A= (p.Ser1228=) c.3327A= (p.Ser1109=) | |
2 | g.166228827G>A | CA1943956 | SCN1A-AS1,SCN9A | c.4070C>T (p.Ser1357Leu) c.3914C>T (p.Ser1305Leu) c.4037C>T (p.Ser1346Leu) n.612-19368G>A c.3683C>T (p.Ser1228Leu) c.3326C>T (p.Ser1109Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228827G>C | CA349063798 | SCN1A-AS1,SCN9A | c.4070C>G (p.Ser1357Ter) c.3914C>G (p.Ser1305Ter) c.4037C>G (p.Ser1346Ter) n.612-19368G>C c.3683C>G (p.Ser1228Ter) c.3326C>G (p.Ser1109Ter) | |
2 | g.166228827G= | CA1304943664 | SCN1A-AS1,SCN9A | c.4070C= (p.Ser1357=) c.3914C= (p.Ser1305=) c.4037C= (p.Ser1346=) n.612-19368G= c.3683C= (p.Ser1228=) c.3326C= (p.Ser1109=) | |
2 | g.166228827G>T | CA349063801 | SCN1A-AS1,SCN9A | c.4070C>A (p.Ser1357Ter) c.3914C>A (p.Ser1305Ter) c.4037C>A (p.Ser1346Ter) n.612-19368G>T c.3683C>A (p.Ser1228Ter) c.3326C>A (p.Ser1109Ter) | |
2 | g.166228828A>C | CA349063809 | SCN1A-AS1,SCN9A | c.4069T>G (p.Ser1357Ala) c.3913T>G (p.Ser1305Ala) c.4036T>G (p.Ser1346Ala) n.612-19367A>C c.3682T>G (p.Ser1228Ala) c.3325T>G (p.Ser1109Ala) | gnomAD v4 |
2 | g.166228828A>G | CA349063810 | SCN1A-AS1,SCN9A | c.4069T>C (p.Ser1357Pro) c.3913T>C (p.Ser1305Pro) c.4036T>C (p.Ser1346Pro) n.612-19367A>G c.3682T>C (p.Ser1228Pro) c.3325T>C (p.Ser1109Pro) | |
2 | g.166228828A>T | CA349063814 | SCN1A-AS1,SCN9A | c.4069T>A (p.Ser1357Thr) c.3913T>A (p.Ser1305Thr) c.4036T>A (p.Ser1346Thr) n.612-19367A>T c.3682T>A (p.Ser1228Thr) c.3325T>A (p.Ser1109Thr) | |
2 | g.166228829C>A | CA429899233 | SCN1A-AS1,SCN9A | c.4068G>T (p.Gly1356=) c.3912G>T (p.Gly1304=) c.4035G>T (p.Gly1345=) n.612-19366C>A c.3681G>T (p.Gly1227=) c.3324G>T (p.Gly1108=) | |
2 | g.166228829C>G | CA429899234 | SCN1A-AS1,SCN9A | c.4068G>C (p.Gly1356=) c.3912G>C (p.Gly1304=) c.4035G>C (p.Gly1345=) n.612-19366C>G c.3681G>C (p.Gly1227=) c.3324G>C (p.Gly1108=) | |
2 | g.166228829C>T | CA429899235 | SCN1A-AS1,SCN9A | c.4068G>A (p.Gly1356=) c.3912G>A (p.Gly1304=) c.4035G>A (p.Gly1345=) n.612-19366C>T c.3681G>A (p.Gly1227=) c.3324G>A (p.Gly1108=) | |
2 | g.166228830C>A | CA349063822 | SCN1A-AS1,SCN9A | c.4067G>T (p.Gly1356Val) c.3911G>T (p.Gly1304Val) c.4034G>T (p.Gly1345Val) n.612-19365C>A c.3680G>T (p.Gly1227Val) c.3323G>T (p.Gly1108Val) | |
2 | g.166228830C>G | CA349063823 | SCN1A-AS1,SCN9A | c.4067G>C (p.Gly1356Ala) c.3911G>C (p.Gly1304Ala) c.4034G>C (p.Gly1345Ala) n.612-19365C>G c.3680G>C (p.Gly1227Ala) c.3323G>C (p.Gly1108Ala) | |
2 | g.166228830C>T | CA349063816 | SCN1A-AS1,SCN9A | c.4067G>A (p.Gly1356Glu) c.3911G>A (p.Gly1304Glu) c.4034G>A (p.Gly1345Glu) n.612-19365C>T c.3680G>A (p.Gly1227Glu) c.3323G>A (p.Gly1108Glu) | |
2 | g.166228831C>A | CA349063824 | SCN1A-AS1,SCN9A | c.4066G>T (p.Gly1356Trp) c.3910G>T (p.Gly1304Trp) c.4033G>T (p.Gly1345Trp) n.612-19364C>A c.3679G>T (p.Gly1227Trp) c.3322G>T (p.Gly1108Trp) | ClinVar dbSNP gnomAD v4 |
2 | g.166228831C= | CA1304943665 | SCN1A-AS1,SCN9A | c.4066G= (p.Gly1356=) c.3910G= (p.Gly1304=) c.4033G= (p.Gly1345=) n.612-19364C= c.3679G= (p.Gly1227=) c.3322G= (p.Gly1108=) | |
2 | g.166228831C>G | CA349063826 | SCN1A-AS1,SCN9A | c.4066G>C (p.Gly1356Arg) c.3910G>C (p.Gly1304Arg) c.4033G>C (p.Gly1345Arg) n.612-19364C>G c.3679G>C (p.Gly1227Arg) c.3322G>C (p.Gly1108Arg) | |
2 | g.166228831C>T | CA349063825 | SCN1A-AS1,SCN9A | c.4066G>A (p.Gly1356Arg) c.3910G>A (p.Gly1304Arg) c.4033G>A (p.Gly1345Arg) n.612-19364C>T c.3679G>A (p.Gly1227Arg) c.3322G>A (p.Gly1108Arg) | |
2 | g.166228832A= | CA1304943666 | SCN1A-AS1,SCN9A | c.4065T= (p.Asp1355=) c.3909T= (p.Asp1303=) c.4032T= (p.Asp1344=) n.612-19363A= c.3678T= (p.Asp1226=) c.3321T= (p.Asp1107=) | |
2 | g.166228832A>C | CA349063829 | SCN1A-AS1,SCN9A | c.4065T>G (p.Asp1355Glu) c.3909T>G (p.Asp1303Glu) c.4032T>G (p.Asp1344Glu) n.612-19363A>C c.3678T>G (p.Asp1226Glu) c.3321T>G (p.Asp1107Glu) | gnomAD v4 |
2 | g.166228832A>G | CA1943957 | SCN1A-AS1,SCN9A | c.4065T>C (p.Asp1355=) c.3909T>C (p.Asp1303=) c.4032T>C (p.Asp1344=) n.612-19363A>G c.3678T>C (p.Asp1226=) c.3321T>C (p.Asp1107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228832A>T | CA349063833 | SCN1A-AS1,SCN9A | c.4065T>A (p.Asp1355Glu) c.3909T>A (p.Asp1303Glu) c.4032T>A (p.Asp1344Glu) n.612-19363A>T c.3678T>A (p.Asp1226Glu) c.3321T>A (p.Asp1107Glu) | |
2 | g.166228833T>A | CA349063837 | SCN1A-AS1,SCN9A | c.4064A>T (p.Asp1355Val) c.3908A>T (p.Asp1303Val) c.4031A>T (p.Asp1344Val) n.612-19362T>A c.3677A>T (p.Asp1226Val) c.3320A>T (p.Asp1107Val) | |
2 | g.166228833T>C | CA349063842 | SCN1A-AS1,SCN9A | c.4064A>G (p.Asp1355Gly) c.3908A>G (p.Asp1303Gly) c.4031A>G (p.Asp1344Gly) n.612-19362T>C c.3677A>G (p.Asp1226Gly) c.3320A>G (p.Asp1107Gly) | gnomAD v4 |
2 | g.166228833T>G | CA349063840 | SCN1A-AS1,SCN9A | c.4064A>C (p.Asp1355Ala) c.3908A>C (p.Asp1303Ala) c.4031A>C (p.Asp1344Ala) n.612-19362T>G c.3677A>C (p.Asp1226Ala) c.3320A>C (p.Asp1107Ala) | |
2 | g.166228834C>A | CA349063845 | SCN1A-AS1,SCN9A | c.4063G>T (p.Asp1355Tyr) c.3907G>T (p.Asp1303Tyr) c.4030G>T (p.Asp1344Tyr) n.612-19361C>A c.3676G>T (p.Asp1226Tyr) c.3319G>T (p.Asp1107Tyr) | |
2 | g.166228834C= | CA1304943667 | SCN1A-AS1,SCN9A | c.4063G= (p.Asp1355=) c.3907G= (p.Asp1303=) c.4030G= (p.Asp1344=) n.612-19361C= c.3676G= (p.Asp1226=) c.3319G= (p.Asp1107=) | |
2 | g.166228834C>G | CA349063846 | SCN1A-AS1,SCN9A | c.4063G>C (p.Asp1355His) c.3907G>C (p.Asp1303His) c.4030G>C (p.Asp1344His) n.612-19361C>G c.3676G>C (p.Asp1226His) c.3319G>C (p.Asp1107His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228834C>T | CA349063849 | SCN1A-AS1,SCN9A | c.4063G>A (p.Asp1355Asn) c.3907G>A (p.Asp1303Asn) c.4030G>A (p.Asp1344Asn) n.612-19361C>T c.3676G>A (p.Asp1226Asn) c.3319G>A (p.Asp1107Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.166228835T>A | CA429899237 | SCN1A-AS1,SCN9A | c.4062A>T (p.Thr1354=) c.3906A>T (p.Thr1302=) c.4029A>T (p.Thr1343=) n.612-19360T>A c.3675A>T (p.Thr1225=) c.3318A>T (p.Thr1106=) | |
2 | g.166228835T>C | CA1943958 | SCN1A-AS1,SCN9A | c.4062A>G (p.Thr1354=) c.3906A>G (p.Thr1302=) c.4029A>G (p.Thr1343=) n.612-19360T>C c.3675A>G (p.Thr1225=) c.3318A>G (p.Thr1106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228835T>G | CA429899238 | SCN1A-AS1,SCN9A | c.4062A>C (p.Thr1354=) c.3906A>C (p.Thr1302=) c.4029A>C (p.Thr1343=) n.612-19360T>G c.3675A>C (p.Thr1225=) c.3318A>C (p.Thr1106=) | |
2 | g.166228835T= | CA1304943668 | SCN1A-AS1,SCN9A | c.4062A= (p.Thr1354=) c.3906A= (p.Thr1302=) c.4029A= (p.Thr1343=) n.612-19360T= c.3675A= (p.Thr1225=) c.3318A= (p.Thr1106=) | |
2 | g.166228837_166228838del | CA2577144848 | SCN1A-AS1,SCN9A | c.4061_4062del (p.Thr1354ArgfsTer23) c.3905_3906del (p.Thr1302ArgfsTer23) c.4028_4029del (p.Thr1343ArgfsTer23) n.612-19358_612-19357del c.3674_3675del (p.Thr1225ArgfsTer23) c.3317_3318del (p.Thr1106ArgfsTer23) | |
2 | g.166228836G>A | CA59810303 | SCN1A-AS1,SCN9A | c.4061C>T (p.Thr1354Ile) c.3905C>T (p.Thr1302Ile) c.4028C>T (p.Thr1343Ile) n.612-19359G>A c.3674C>T (p.Thr1225Ile) c.3317C>T (p.Thr1106Ile) | dbSNP gnomAD v4 |
2 | g.166228836G>C | CA349063854 | SCN1A-AS1,SCN9A | c.4061C>G (p.Thr1354Arg) c.3905C>G (p.Thr1302Arg) c.4028C>G (p.Thr1343Arg) n.612-19359G>C c.3674C>G (p.Thr1225Arg) c.3317C>G (p.Thr1106Arg) | |
2 | g.166228836G= | CA1304943669 | SCN1A-AS1,SCN9A | c.4061C= (p.Thr1354=) c.3905C= (p.Thr1302=) c.4028C= (p.Thr1343=) n.612-19359G= c.3674C= (p.Thr1225=) c.3317C= (p.Thr1106=) | |
2 | g.166228836G>T | CA349063857 | SCN1A-AS1,SCN9A | c.4061C>A (p.Thr1354Lys) c.3905C>A (p.Thr1302Lys) c.4028C>A (p.Thr1343Lys) n.612-19359G>T c.3674C>A (p.Thr1225Lys) c.3317C>A (p.Thr1106Lys) | COSMIC |
2 | g.166228837T>A | CA349063860 | SCN1A-AS1,SCN9A | c.4060A>T (p.Thr1354Ser) c.3904A>T (p.Thr1302Ser) c.4027A>T (p.Thr1343Ser) n.612-19358T>A c.3673A>T (p.Thr1225Ser) c.3316A>T (p.Thr1106Ser) | |
2 | g.166228837T>C | CA349063862 | SCN1A-AS1,SCN9A | c.4060A>G (p.Thr1354Ala) c.3904A>G (p.Thr1302Ala) c.4027A>G (p.Thr1343Ala) n.612-19358T>C c.3673A>G (p.Thr1225Ala) c.3316A>G (p.Thr1106Ala) | |
2 | g.166228837T>G | CA349063864 | SCN1A-AS1,SCN9A | c.4060A>C (p.Thr1354Pro) c.3904A>C (p.Thr1302Pro) c.4027A>C (p.Thr1343Pro) n.612-19358T>G c.3673A>C (p.Thr1225Pro) c.3316A>C (p.Thr1106Pro) | |
2 | g.166228838G>A | CA59810307 | SCN1A-AS1,SCN9A | c.4059C>T (p.Thr1353=) c.3903C>T (p.Thr1301=) c.4026C>T (p.Thr1342=) n.612-19357G>A c.3672C>T (p.Thr1224=) c.3315C>T (p.Thr1105=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228838G>C | CA429899240 | SCN1A-AS1,SCN9A | c.4059C>G (p.Thr1353=) c.3903C>G (p.Thr1301=) c.4026C>G (p.Thr1342=) n.612-19357G>C c.3672C>G (p.Thr1224=) c.3315C>G (p.Thr1105=) | |
2 | g.166228838G= | CA1304943670 | SCN1A-AS1,SCN9A | c.4059C= (p.Thr1353=) c.3903C= (p.Thr1301=) c.4026C= (p.Thr1342=) n.612-19357G= c.3672C= (p.Thr1224=) c.3315C= (p.Thr1105=) | |
2 | g.166228838G>T | CA429899241 | SCN1A-AS1,SCN9A | c.4059C>A (p.Thr1353=) c.3903C>A (p.Thr1301=) c.4026C>A (p.Thr1342=) n.612-19357G>T c.3672C>A (p.Thr1224=) c.3315C>A (p.Thr1105=) | |
2 | g.166228839G>A | CA349063869 | SCN1A-AS1,SCN9A | c.4058C>T (p.Thr1353Ile) c.3902C>T (p.Thr1301Ile) c.4025C>T (p.Thr1342Ile) n.612-19356G>A c.3671C>T (p.Thr1224Ile) c.3314C>T (p.Thr1105Ile) | |
2 | g.166228839G>C | CA349063872 | SCN1A-AS1,SCN9A | c.4058C>G (p.Thr1353Ser) c.3902C>G (p.Thr1301Ser) c.4025C>G (p.Thr1342Ser) n.612-19356G>C c.3671C>G (p.Thr1224Ser) c.3314C>G (p.Thr1105Ser) | |
2 | g.166228839G>T | CA349063871 | SCN1A-AS1,SCN9A | c.4058C>A (p.Thr1353Asn) c.3902C>A (p.Thr1301Asn) c.4025C>A (p.Thr1342Asn) n.612-19356G>T c.3671C>A (p.Thr1224Asn) c.3314C>A (p.Thr1105Asn) | gnomAD v4 |
2 | g.166228840T>A | CA349063873 | SCN1A-AS1,SCN9A | c.4057A>T (p.Thr1353Ser) c.3901A>T (p.Thr1301Ser) c.4024A>T (p.Thr1342Ser) n.612-19355T>A c.3670A>T (p.Thr1224Ser) c.3313A>T (p.Thr1105Ser) | |
2 | g.166228840T>C | CA349063875 | SCN1A-AS1,SCN9A | c.4057A>G (p.Thr1353Ala) c.3901A>G (p.Thr1301Ala) c.4024A>G (p.Thr1342Ala) n.612-19355T>C c.3670A>G (p.Thr1224Ala) c.3313A>G (p.Thr1105Ala) | COSMIC |
2 | g.166228840T>G | CA349063877 | SCN1A-AS1,SCN9A | c.4057A>C (p.Thr1353Pro) c.3901A>C (p.Thr1301Pro) c.4024A>C (p.Thr1342Pro) n.612-19355T>G c.3670A>C (p.Thr1224Pro) c.3313A>C (p.Thr1105Pro) | |
2 | g.166228841G>A | CA1943959 | SCN1A-AS1,SCN9A | c.4056C>T (p.Asn1352=) c.3900C>T (p.Asn1300=) c.4023C>T (p.Asn1341=) n.612-19354G>A c.3669C>T (p.Asn1223=) c.3312C>T (p.Asn1104=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.166228841G>C | CA349063887 | SCN1A-AS1,SCN9A | c.4056C>G (p.Asn1352Lys) c.3900C>G (p.Asn1300Lys) c.4023C>G (p.Asn1341Lys) n.612-19354G>C c.3669C>G (p.Asn1223Lys) c.3312C>G (p.Asn1104Lys) | |
2 | g.166228841G= | CA1304943671 | SCN1A-AS1,SCN9A | c.4056C= (p.Asn1352=) c.3900C= (p.Asn1300=) c.4023C= (p.Asn1341=) n.612-19354G= c.3669C= (p.Asn1223=) c.3312C= (p.Asn1104=) | |
2 | g.166228841G>T | CA349063894 | SCN1A-AS1,SCN9A | c.4056C>A (p.Asn1352Lys) c.3900C>A (p.Asn1300Lys) c.4023C>A (p.Asn1341Lys) n.612-19354G>T c.3669C>A (p.Asn1223Lys) c.3312C>A (p.Asn1104Lys) | |
2 | g.166228842T>A | CA349063906 | SCN1A-AS1,SCN9A | c.4055A>T (p.Asn1352Ile) c.3899A>T (p.Asn1300Ile) c.4022A>T (p.Asn1341Ile) n.612-19353T>A c.3668A>T (p.Asn1223Ile) c.3311A>T (p.Asn1104Ile) | |
2 | g.166228842T>C | CA349063909 | SCN1A-AS1,SCN9A | c.4055A>G (p.Asn1352Ser) c.3899A>G (p.Asn1300Ser) c.4022A>G (p.Asn1341Ser) n.612-19353T>C c.3668A>G (p.Asn1223Ser) c.3311A>G (p.Asn1104Ser) | |
2 | g.166228842T>G | CA349063911 | SCN1A-AS1,SCN9A | c.4055A>C (p.Asn1352Thr) c.3899A>C (p.Asn1300Thr) c.4022A>C (p.Asn1341Thr) n.612-19353T>G c.3668A>C (p.Asn1223Thr) c.3311A>C (p.Asn1104Thr) | ClinVar dbSNP |
2 | g.166228842T= | CA1304943672 | SCN1A-AS1,SCN9A | c.4055A= (p.Asn1352=) c.3899A= (p.Asn1300=) c.4022A= (p.Asn1341=) n.612-19353T= c.3668A= (p.Asn1223=) c.3311A= (p.Asn1104=) | |
2 | g.166228843T>A | CA349063919 | SCN1A-AS1,SCN9A | c.4054A>T (p.Asn1352Tyr) c.3898A>T (p.Asn1300Tyr) c.4021A>T (p.Asn1341Tyr) n.612-19352T>A c.3667A>T (p.Asn1223Tyr) c.3310A>T (p.Asn1104Tyr) | COSMIC COSMIC |
2 | g.166228843T>C | CA349063922 | SCN1A-AS1,SCN9A | c.4054A>G (p.Asn1352Asp) c.3898A>G (p.Asn1300Asp) c.4021A>G (p.Asn1341Asp) n.612-19352T>C c.3667A>G (p.Asn1223Asp) c.3310A>G (p.Asn1104Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.166228843T>G | CA349063915 | SCN1A-AS1,SCN9A | c.4054A>C (p.Asn1352His) c.3898A>C (p.Asn1300His) c.4021A>C (p.Asn1341His) n.612-19352T>G c.3667A>C (p.Asn1223His) c.3310A>C (p.Asn1104His) | |
2 | g.166228843T= | CA1304943673 | SCN1A-AS1,SCN9A | c.4054A= (p.Asn1352=) c.3898A= (p.Asn1300=) c.4021A= (p.Asn1341=) n.612-19352T= c.3667A= (p.Asn1223=) c.3310A= (p.Asn1104=) | |
2 | g.166228844A>C | CA349063926 | SCN1A-AS1,SCN9A | c.4053T>G (p.Ile1351Met) c.3897T>G (p.Ile1299Met) c.4020T>G (p.Ile1340Met) n.612-19351A>C c.3666T>G (p.Ile1222Met) c.3309T>G (p.Ile1103Met) | gnomAD v4 |
2 | g.166228844A>G | CA429899245 | SCN1A-AS1,SCN9A | c.4053T>C (p.Ile1351=) c.3897T>C (p.Ile1299=) c.4020T>C (p.Ile1340=) n.612-19351A>G c.3666T>C (p.Ile1222=) c.3309T>C (p.Ile1103=) | |
2 | g.166228844A>T | CA429899246 | SCN1A-AS1,SCN9A | c.4053T>A (p.Ile1351=) c.3897T>A (p.Ile1299=) c.4020T>A (p.Ile1340=) n.612-19351A>T c.3666T>A (p.Ile1222=) c.3309T>A (p.Ile1103=) | |
2 | g.166228845A>C | CA349063928 | SCN1A-AS1,SCN9A | c.4052T>G (p.Ile1351Ser) c.3896T>G (p.Ile1299Ser) c.4019T>G (p.Ile1340Ser) n.612-19350A>C c.3665T>G (p.Ile1222Ser) c.3308T>G (p.Ile1103Ser) | |
2 | g.166228845A>G | CA349063931 | SCN1A-AS1,SCN9A | c.4052T>C (p.Ile1351Thr) c.3896T>C (p.Ile1299Thr) c.4019T>C (p.Ile1340Thr) n.612-19350A>G c.3665T>C (p.Ile1222Thr) c.3308T>C (p.Ile1103Thr) | gnomAD v4 |
2 | g.166228845A>T | CA349063934 | SCN1A-AS1,SCN9A | c.4052T>A (p.Ile1351Asn) c.3896T>A (p.Ile1299Asn) c.4019T>A (p.Ile1340Asn) n.612-19350A>T c.3665T>A (p.Ile1222Asn) c.3308T>A (p.Ile1103Asn) | |
2 | g.166228846T>A | CA349063943 | SCN1A-AS1,SCN9A | c.4051A>T (p.Ile1351Phe) c.3895A>T (p.Ile1299Phe) c.4018A>T (p.Ile1340Phe) n.612-19349T>A c.3664A>T (p.Ile1222Phe) c.3307A>T (p.Ile1103Phe) | |
2 | g.166228846T>C | CA349063940 | SCN1A-AS1,SCN9A | c.4051A>G (p.Ile1351Val) c.3895A>G (p.Ile1299Val) c.4018A>G (p.Ile1340Val) n.612-19349T>C c.3664A>G (p.Ile1222Val) c.3307A>G (p.Ile1103Val) | |
2 | g.166228846T>G | CA349063938 | SCN1A-AS1,SCN9A | c.4051A>C (p.Ile1351Leu) c.3895A>C (p.Ile1299Leu) c.4018A>C (p.Ile1340Leu) n.612-19349T>G c.3664A>C (p.Ile1222Leu) c.3307A>C (p.Ile1103Leu) | |
2 | g.166228847A= | CA1304943674 | SCN1A-AS1,SCN9A | c.4050T= (p.Cys1350=) c.3894T= (p.Cys1298=) c.4017T= (p.Cys1339=) n.612-19348A= c.3663T= (p.Cys1221=) c.3306T= (p.Cys1102=) | |
2 | g.166228847A>C | CA349063951 | SCN1A-AS1,SCN9A | c.4050T>G (p.Cys1350Trp) c.3894T>G (p.Cys1298Trp) c.4017T>G (p.Cys1339Trp) n.612-19348A>C c.3663T>G (p.Cys1221Trp) c.3306T>G (p.Cys1102Trp) | |
2 | g.166228847A>G | CA1943960 | SCN1A-AS1,SCN9A | c.4050T>C (p.Cys1350=) c.3894T>C (p.Cys1298=) c.4017T>C (p.Cys1339=) n.612-19348A>G c.3663T>C (p.Cys1221=) c.3306T>C (p.Cys1102=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166228847A>T | CA349063957 | SCN1A-AS1,SCN9A | c.4050T>A (p.Cys1350Ter) c.3894T>A (p.Cys1298Ter) c.4017T>A (p.Cys1339Ter) n.612-19348A>T c.3663T>A (p.Cys1221Ter) c.3306T>A (p.Cys1102Ter) | dbSNP |
2 | g.166228848C>A | CA349063960 | SCN1A-AS1,SCN9A | c.4049G>T (p.Cys1350Phe) c.3893G>T (p.Cys1298Phe) c.4016G>T (p.Cys1339Phe) n.612-19347C>A c.3662G>T (p.Cys1221Phe) c.3305G>T (p.Cys1102Phe) | |
2 | g.166228848C>G | CA349063969 | SCN1A-AS1,SCN9A | c.4049G>C (p.Cys1350Ser) c.3893G>C (p.Cys1298Ser) c.4016G>C (p.Cys1339Ser) n.612-19347C>G c.3662G>C (p.Cys1221Ser) c.3305G>C (p.Cys1102Ser) | |
2 | g.166228848C>T | CA349063972 | SCN1A-AS1,SCN9A | c.4049G>A (p.Cys1350Tyr) c.3893G>A (p.Cys1298Tyr) c.4016G>A (p.Cys1339Tyr) n.612-19347C>T c.3662G>A (p.Cys1221Tyr) c.3305G>A (p.Cys1102Tyr) | |
2 | g.166228849A= | CA1304943675 | SCN1A-AS1,SCN9A | c.4048T= (p.Cys1350=) c.3892T= (p.Cys1298=) c.4015T= (p.Cys1339=) n.612-19346A= c.3661T= (p.Cys1221=) c.3304T= (p.Cys1102=) | |
2 | g.166228849A>C | CA349063976 | SCN1A-AS1,SCN9A | c.4048T>G (p.Cys1350Gly) c.3892T>G (p.Cys1298Gly) c.4015T>G (p.Cys1339Gly) n.612-19346A>C c.3661T>G (p.Cys1221Gly) c.3304T>G (p.Cys1102Gly) | gnomAD v4 |
2 | g.166228849A>G | CA349063982 | SCN1A-AS1,SCN9A | c.4048T>C (p.Cys1350Arg) c.3892T>C (p.Cys1298Arg) c.4015T>C (p.Cys1339Arg) n.612-19346A>G c.3661T>C (p.Cys1221Arg) c.3304T>C (p.Cys1102Arg) | ClinVar dbSNP |
2 | g.166228849A>T | CA349063979 | SCN1A-AS1,SCN9A | c.4048T>A (p.Cys1350Ser) c.3892T>A (p.Cys1298Ser) c.4015T>A (p.Cys1339Ser) n.612-19346A>T c.3661T>A (p.Cys1221Ser) c.3304T>A (p.Cys1102Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228850C>A | CA349063985 | SCN1A-AS1,SCN9A | c.4047G>T (p.Glu1349Asp) c.3891G>T (p.Glu1297Asp) c.4014G>T (p.Glu1338Asp) n.612-19345C>A c.3660G>T (p.Glu1220Asp) c.3303G>T (p.Glu1101Asp) | |
2 | g.166228850C= | CA1304943676 | SCN1A-AS1,SCN9A | c.4047G= (p.Glu1349=) c.3891G= (p.Glu1297=) c.4014G= (p.Glu1338=) n.612-19345C= c.3660G= (p.Glu1220=) c.3303G= (p.Glu1101=) | |
2 | g.166228850C>G | CA349063987 | SCN1A-AS1,SCN9A | c.4047G>C (p.Glu1349Asp) c.3891G>C (p.Glu1297Asp) c.4014G>C (p.Glu1338Asp) n.612-19345C>G c.3660G>C (p.Glu1220Asp) c.3303G>C (p.Glu1101Asp) | |
2 | g.166228850C>T | CA59810314 | SCN1A-AS1,SCN9A | c.4047G>A (p.Glu1349=) c.3891G>A (p.Glu1297=) c.4014G>A (p.Glu1338=) n.612-19345C>T c.3660G>A (p.Glu1220=) c.3303G>A (p.Glu1101=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228851T>A | CA349063995 | SCN1A-AS1,SCN9A | c.4046A>T (p.Glu1349Val) c.3890A>T (p.Glu1297Val) c.4013A>T (p.Glu1338Val) n.612-19344T>A c.3659A>T (p.Glu1220Val) c.3302A>T (p.Glu1101Val) | ClinVar dbSNP gnomAD v4 |
2 | g.166228851T>C | CA349063997 | SCN1A-AS1,SCN9A | c.4046A>G (p.Glu1349Gly) c.3890A>G (p.Glu1297Gly) c.4013A>G (p.Glu1338Gly) n.612-19344T>C c.3659A>G (p.Glu1220Gly) c.3302A>G (p.Glu1101Gly) | |
2 | g.166228851T>G | CA349064001 | SCN1A-AS1,SCN9A | c.4046A>C (p.Glu1349Ala) c.3890A>C (p.Glu1297Ala) c.4013A>C (p.Glu1338Ala) n.612-19344T>G c.3659A>C (p.Glu1220Ala) c.3302A>C (p.Glu1101Ala) | |
2 | g.166228851T= | CA1304943677 | SCN1A-AS1,SCN9A | c.4046A= (p.Glu1349=) c.3890A= (p.Glu1297=) c.4013A= (p.Glu1338=) n.612-19344T= c.3659A= (p.Glu1220=) c.3302A= (p.Glu1101=) | |
2 | g.166228852C>A | CA349064002 | SCN1A-AS1,SCN9A | c.4045G>T (p.Glu1349Ter) c.3889G>T (p.Glu1297Ter) c.4012G>T (p.Glu1338Ter) n.612-19343C>A c.3658G>T (p.Glu1220Ter) c.3301G>T (p.Glu1101Ter) | dbSNP |
2 | g.166228852C= | CA1304943678 | SCN1A-AS1,SCN9A | c.4045G= (p.Glu1349=) c.3889G= (p.Glu1297=) c.4012G= (p.Glu1338=) n.612-19343C= c.3658G= (p.Glu1220=) c.3301G= (p.Glu1101=) | |
2 | g.166228852C>G | CA349064008 | SCN1A-AS1,SCN9A | c.4045G>C (p.Glu1349Gln) c.3889G>C (p.Glu1297Gln) c.4012G>C (p.Glu1338Gln) n.612-19343C>G c.3658G>C (p.Glu1220Gln) c.3301G>C (p.Glu1101Gln) | |
2 | g.166228852C>T | CA349064010 | SCN1A-AS1,SCN9A | c.4045G>A (p.Glu1349Lys) c.3889G>A (p.Glu1297Lys) c.4012G>A (p.Glu1338Lys) n.612-19343C>T c.3658G>A (p.Glu1220Lys) c.3301G>A (p.Glu1101Lys) | dbSNP |
2 | g.166228853A>C | CA349064011 | SCN1A-AS1,SCN9A | c.4044T>G (p.Tyr1348Ter) c.3888T>G (p.Tyr1296Ter) c.4011T>G (p.Tyr1337Ter) n.612-19342A>C c.3657T>G (p.Tyr1219Ter) c.3300T>G (p.Tyr1100Ter) | |
2 | g.166228853A>G | CA429899254 | SCN1A-AS1,SCN9A | c.4044T>C (p.Tyr1348=) c.3888T>C (p.Tyr1296=) c.4011T>C (p.Tyr1337=) n.612-19342A>G c.3657T>C (p.Tyr1219=) c.3300T>C (p.Tyr1100=) | gnomAD v4 |
2 | g.166228853A>T | CA349064018 | SCN1A-AS1,SCN9A | c.4044T>A (p.Tyr1348Ter) c.3888T>A (p.Tyr1296Ter) c.4011T>A (p.Tyr1337Ter) n.612-19342A>T c.3657T>A (p.Tyr1219Ter) c.3300T>A (p.Tyr1100Ter) | |
2 | g.166228854T>A | CA349064024 | SCN1A-AS1,SCN9A | c.4043A>T (p.Tyr1348Phe) c.3887A>T (p.Tyr1296Phe) c.4010A>T (p.Tyr1337Phe) n.612-19341T>A c.3656A>T (p.Tyr1219Phe) c.3299A>T (p.Tyr1100Phe) | gnomAD v4 |
2 | g.166228854T>C | CA231503 | SCN1A-AS1,SCN9A | c.4043A>G (p.Tyr1348Cys) c.3887A>G (p.Tyr1296Cys) c.4010A>G (p.Tyr1337Cys) n.612-19341T>C c.3656A>G (p.Tyr1219Cys) c.3299A>G (p.Tyr1100Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228854T>G | CA349064019 | SCN1A-AS1,SCN9A | c.4043A>C (p.Tyr1348Ser) c.3887A>C (p.Tyr1296Ser) c.4010A>C (p.Tyr1337Ser) n.612-19341T>G c.3656A>C (p.Tyr1219Ser) c.3299A>C (p.Tyr1100Ser) | |
2 | g.166228854T= | CA1304943679 | SCN1A-AS1,SCN9A | c.4043A= (p.Tyr1348=) c.3887A= (p.Tyr1296=) c.4010A= (p.Tyr1337=) n.612-19341T= c.3656A= (p.Tyr1219=) c.3299A= (p.Tyr1100=) |