Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166280361T>A | CA349079313 | SCN1A-AS1,SCN9A | c.2339A>T (p.Asn780Ile) c.2306A>T (p.Asn769Ile) c.1341A>T n.1029+3114T>A c.1952A>T (p.Asn651Ile) c.1595A>T (p.Asn532Ile) n.2653A>T | |
2 | g.166280361T>C | CA16610280 | SCN1A-AS1,SCN9A | c.2339A>G (p.Asn780Ser) c.2306A>G (p.Asn769Ser) c.1341A>G n.1029+3114T>C c.1952A>G (p.Asn651Ser) c.1595A>G (p.Asn532Ser) n.2653A>G | ClinVar dbSNP |
2 | g.166280361T>G | CA349079316 | SCN1A-AS1,SCN9A | c.2339A>C (p.Asn780Thr) c.2306A>C (p.Asn769Thr) c.1341A>C n.1029+3114T>G c.1952A>C (p.Asn651Thr) c.1595A>C (p.Asn532Thr) n.2653A>C | |
2 | g.166280361T= | CA1304965637 | SCN1A-AS1,SCN9A | c.2339A= (p.Asn780=) c.2306A= (p.Asn769=) c.1341A= n.1029+3114T= c.1952A= (p.Asn651=) c.1595A= (p.Asn532=) n.2653A= | |
2 | g.166280362T>A | CA349079318 | SCN1A-AS1,SCN9A | c.2338A>T (p.Asn780Tyr) c.2305A>T (p.Asn769Tyr) c.1340A>T n.1029+3115T>A c.1951A>T (p.Asn651Tyr) c.1594A>T (p.Asn532Tyr) n.2652A>T | |
2 | g.166280362T>C | CA349079320 | SCN1A-AS1,SCN9A | c.2338A>G (p.Asn780Asp) c.2305A>G (p.Asn769Asp) c.1340A>G n.1029+3115T>C c.1951A>G (p.Asn651Asp) c.1594A>G (p.Asn532Asp) n.2652A>G | gnomAD v4 |
2 | g.166280362T>G | CA349079322 | SCN1A-AS1,SCN9A | c.2338A>C (p.Asn780His) c.2305A>C (p.Asn769His) c.1340A>C n.1029+3115T>G c.1951A>C (p.Asn651His) c.1594A>C (p.Asn532His) n.2652A>C | |
2 | g.166280363T>A | CA429902038 | SCN1A-AS1,SCN9A | c.2337A>T (p.Gly779=) c.2304A>T (p.Gly768=) c.1339A>T n.1029+3116T>A c.1950A>T (p.Gly650=) c.1593A>T (p.Gly531=) n.2651A>T | |
2 | g.166280363T>C | CA429902040 | SCN1A-AS1,SCN9A | c.2337A>G (p.Gly779=) c.2304A>G (p.Gly768=) c.1339A>G n.1029+3116T>C c.1950A>G (p.Gly650=) c.1593A>G (p.Gly531=) n.2651A>G | dbSNP |
2 | g.166280363T>G | CA429902042 | SCN1A-AS1,SCN9A | c.2337A>C (p.Gly779=) c.2304A>C (p.Gly768=) c.1339A>C n.1029+3116T>G c.1950A>C (p.Gly650=) c.1593A>C (p.Gly531=) n.2651A>C | |
2 | g.166280363T= | CA1304965639 | SCN1A-AS1,SCN9A | c.2337A= (p.Gly779=) c.2304A= (p.Gly768=) c.1339A= n.1029+3116T= c.1950A= (p.Gly650=) c.1593A= (p.Gly531=) n.2651A= | |
2 | g.166280364C>A | CA349079325 | SCN1A-AS1,SCN9A | c.2336G>T (p.Gly779Val) c.2303G>T (p.Gly768Val) c.1338G>T n.1029+3117C>A c.1949G>T (p.Gly650Val) c.1592G>T (p.Gly531Val) n.2650G>T | gnomAD v4 |
2 | g.166280364C>G | CA349079326 | SCN1A-AS1,SCN9A | c.2336G>C (p.Gly779Ala) c.2303G>C (p.Gly768Ala) c.1338G>C n.1029+3117C>G c.1949G>C (p.Gly650Ala) c.1592G>C (p.Gly531Ala) n.2650G>C | |
2 | g.166280364C>T | CA349079329 | SCN1A-AS1,SCN9A | c.2336G>A (p.Gly779Glu) c.2303G>A (p.Gly768Glu) c.1338G>A n.1029+3117C>T c.1949G>A (p.Gly650Glu) c.1592G>A (p.Gly531Glu) n.2650G>A | COSMIC COSMIC |
2 | g.166280365C>A | CA349079337 | SCN1A-AS1,SCN9A | c.2335G>T (p.Gly779Ter) c.2302G>T (p.Gly768Ter) c.1337G>T n.1029+3118C>A c.1948G>T (p.Gly650Ter) c.1591G>T (p.Gly531Ter) n.2649G>T | dbSNP |
2 | g.166280365C= | CA1304965640 | SCN1A-AS1,SCN9A | c.2335G= (p.Gly779=) c.2302G= (p.Gly768=) c.1337G= n.1029+3118C= c.1948G= (p.Gly650=) c.1591G= (p.Gly531=) n.2649G= | |
2 | g.166280365C>G | CA349079334 | SCN1A-AS1,SCN9A | c.2335G>C (p.Gly779Arg) c.2302G>C (p.Gly768Arg) c.1337G>C n.1029+3118C>G c.1948G>C (p.Gly650Arg) c.1591G>C (p.Gly531Arg) n.2649G>C | |
2 | g.166280365C>T | CA349079332 | SCN1A-AS1,SCN9A | c.2335G>A (p.Gly779Arg) c.2302G>A (p.Gly768Arg) c.1337G>A n.1029+3118C>T c.1948G>A (p.Gly650Arg) c.1591G>A (p.Gly531Arg) n.2649G>A | |
2 | g.166280366T>A | CA429902057 | SCN1A-AS1,SCN9A | c.2334A>T (p.Ile778=) c.2301A>T (p.Ile767=) c.1336A>T n.1029+3119T>A c.1947A>T (p.Ile649=) c.1590A>T (p.Ile530=) n.2648A>T | gnomAD v4 |
2 | g.166280366T>C | CA59796515 | SCN1A-AS1,SCN9A | c.2334A>G (p.Ile778Met) c.2301A>G (p.Ile767Met) c.1336A>G n.1029+3119T>C c.1947A>G (p.Ile649Met) c.1590A>G (p.Ile530Met) n.2648A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166280366T>G | CA429902062 | SCN1A-AS1,SCN9A | c.2334A>C (p.Ile778=) c.2301A>C (p.Ile767=) c.1336A>C n.1029+3119T>G c.1947A>C (p.Ile649=) c.1590A>C (p.Ile530=) n.2648A>C | |
2 | g.166280366T= | CA1304965642 | SCN1A-AS1,SCN9A | c.2334A= (p.Ile778=) c.2301A= (p.Ile767=) c.1336A= n.1029+3119T= c.1947A= (p.Ile649=) c.1590A= (p.Ile530=) n.2648A= | |
2 | g.166280368_166280369del | CA2661767706 | SCN1A-AS1,SCN9A | c.2333_2334del (p.Ile778ArgfsTer12) c.2300_2301del (p.Ile767ArgfsTer12) c.1335_1336del n.1029+3121_1029+3122del c.1946_1947del (p.Ile649ArgfsTer12) c.1589_1590del (p.Ile530ArgfsTer12) n.2647_2648del | gnomAD v4 |
2 | g.166280367A>C | CA349079342 | SCN1A-AS1,SCN9A | c.2333T>G (p.Ile778Arg) c.2300T>G (p.Ile767Arg) c.1335T>G n.1029+3120A>C c.1946T>G (p.Ile649Arg) c.1589T>G (p.Ile530Arg) n.2647T>G | |
2 | g.166280367A>G | CA349079344 | SCN1A-AS1,SCN9A | c.2333T>C (p.Ile778Thr) c.2300T>C (p.Ile767Thr) c.1335T>C n.1029+3120A>G c.1946T>C (p.Ile649Thr) c.1589T>C (p.Ile530Thr) n.2647T>C | gnomAD v4 |
2 | g.166280367A>T | CA349079346 | SCN1A-AS1,SCN9A | c.2333T>A (p.Ile778Lys) c.2300T>A (p.Ile767Lys) c.1335T>A n.1029+3120A>T c.1946T>A (p.Ile649Lys) c.1589T>A (p.Ile530Lys) n.2647T>A | gnomAD v4 |
2 | g.166280368T>A | CA349079349 | SCN1A-AS1,SCN9A | c.2332A>T (p.Ile778Leu) c.2299A>T (p.Ile767Leu) c.1334A>T n.1029+3121T>A c.1945A>T (p.Ile649Leu) c.1588A>T (p.Ile530Leu) n.2646A>T | ClinVar gnomAD v4 |
2 | g.166280368T>C | CA1944296 | SCN1A-AS1,SCN9A | c.2332A>G (p.Ile778Val) c.2299A>G (p.Ile767Val) c.1334A>G n.1029+3121T>C c.1945A>G (p.Ile649Val) c.1588A>G (p.Ile530Val) n.2646A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280368T>G | CA349079352 | SCN1A-AS1,SCN9A | c.2332A>C (p.Ile778Leu) c.2299A>C (p.Ile767Leu) c.1334A>C n.1029+3121T>G c.1945A>C (p.Ile649Leu) c.1588A>C (p.Ile530Leu) n.2646A>C | |
2 | g.166280368T= | CA1304965643 | SCN1A-AS1,SCN9A | c.2332A= (p.Ile778=) c.2299A= (p.Ile767=) c.1334A= n.1029+3121T= c.1945A= (p.Ile649=) c.1588A= (p.Ile530=) n.2646A= | |
2 | g.166280368_166280369delinsTA | CA1304965644 | SCN1A-AS1,SCN9A | c.2331_2332delinsTA (p.Ala777=) c.2298_2299delinsTA (p.Ala766=) c.1333_1334delinsTA n.1029+3121_1029+3122delinsTA c.1944_1945delinsTA (p.Ala648=) c.1587_1588delinsTA (p.Ala529=) n.2645_2646delinsTA | |
2 | g.166280369del | CA913185013 | SCN1A-AS1,SCN9A | c.2331del (p.Ile778Ter) c.2298del (p.Ile767Ter) c.1333del n.1029+3122del c.1944del (p.Ile649Ter) c.1587del (p.Ile530Ter) n.2645del | ClinVar dbSNP |
2 | g.166280369A>C | CA429902077 | SCN1A-AS1,SCN9A | c.2331T>G (p.Ala777=) c.2298T>G (p.Ala766=) c.1333T>G n.1029+3122A>C c.1944T>G (p.Ala648=) c.1587T>G (p.Ala529=) n.2645T>G | |
2 | g.166280369A>G | CA429902078 | SCN1A-AS1,SCN9A | c.2331T>C (p.Ala777=) c.2298T>C (p.Ala766=) c.1333T>C n.1029+3122A>G c.1944T>C (p.Ala648=) c.1587T>C (p.Ala529=) n.2645T>C | ClinVar |
2 | g.166280369A>T | CA429902080 | SCN1A-AS1,SCN9A | c.2331T>A (p.Ala777=) c.2298T>A (p.Ala766=) c.1333T>A n.1029+3122A>T c.1944T>A (p.Ala648=) c.1587T>A (p.Ala529=) n.2645T>A | |
2 | g.166280370G>A | CA1944297 | SCN1A-AS1,SCN9A | c.2330C>T (p.Ala777Val) c.2297C>T (p.Ala766Val) c.1332C>T n.1029+3123G>A c.1943C>T (p.Ala648Val) c.1586C>T (p.Ala529Val) n.2644C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280370G>C | CA349079357 | SCN1A-AS1,SCN9A | c.2330C>G (p.Ala777Gly) c.2297C>G (p.Ala766Gly) c.1332C>G n.1029+3123G>C c.1943C>G (p.Ala648Gly) c.1586C>G (p.Ala529Gly) n.2644C>G | |
2 | g.166280370G= | CA1304965646 | SCN1A-AS1,SCN9A | c.2330C= (p.Ala777=) c.2297C= (p.Ala766=) c.1332C= n.1029+3123G= c.1943C= (p.Ala648=) c.1586C= (p.Ala529=) n.2644C= | |
2 | g.166280370G>T | CA349079359 | SCN1A-AS1,SCN9A | c.2330C>A (p.Ala777Asp) c.2297C>A (p.Ala766Asp) c.1332C>A n.1029+3123G>T c.1943C>A (p.Ala648Asp) c.1586C>A (p.Ala529Asp) n.2644C>A | gnomAD v4 |
2 | g.166280371C>A | CA349079362 | SCN1A-AS1,SCN9A | c.2329G>T (p.Ala777Ser) c.2296G>T (p.Ala766Ser) c.1331G>T n.1029+3124C>A c.1942G>T (p.Ala648Ser) c.1585G>T (p.Ala529Ser) n.2643G>T | gnomAD v4 |
2 | g.166280371C= | CA1304965647 | SCN1A-AS1,SCN9A | c.2329G= (p.Ala777=) c.2296G= (p.Ala766=) c.1331G= n.1029+3124C= c.1942G= (p.Ala648=) c.1585G= (p.Ala529=) n.2643G= | |
2 | g.166280371C>G | CA349079364 | SCN1A-AS1,SCN9A | c.2329G>C (p.Ala777Pro) c.2296G>C (p.Ala766Pro) c.1331G>C n.1029+3124C>G c.1942G>C (p.Ala648Pro) c.1585G>C (p.Ala529Pro) n.2643G>C | |
2 | g.166280371C>T | CA349079366 | SCN1A-AS1,SCN9A | c.2329G>A (p.Ala777Thr) c.2296G>A (p.Ala766Thr) c.1331G>A n.1029+3124C>T c.1942G>A (p.Ala648Thr) c.1585G>A (p.Ala529Thr) n.2643G>A | dbSNP gnomAD v4 |
2 | g.166280372A>C | CA429902096 | SCN1A-AS1,SCN9A | c.2328T>G (p.Leu776=) c.2295T>G (p.Leu765=) c.1330T>G n.1029+3125A>C c.1941T>G (p.Leu647=) c.1584T>G (p.Leu528=) n.2642T>G | |
2 | g.166280372A>G | CA429902098 | SCN1A-AS1,SCN9A | c.2328T>C (p.Leu776=) c.2295T>C (p.Leu765=) c.1330T>C n.1029+3125A>G c.1941T>C (p.Leu647=) c.1584T>C (p.Leu528=) n.2642T>C | |
2 | g.166280372A>T | CA429902100 | SCN1A-AS1,SCN9A | c.2328T>A (p.Leu776=) c.2295T>A (p.Leu765=) c.1330T>A n.1029+3125A>T c.1941T>A (p.Leu647=) c.1584T>A (p.Leu528=) n.2642T>A | |
2 | g.166280373A>C | CA349079371 | SCN1A-AS1,SCN9A | c.2327T>G (p.Leu776Arg) c.2294T>G (p.Leu765Arg) c.1329T>G n.1029+3126A>C c.1940T>G (p.Leu647Arg) c.1583T>G (p.Leu528Arg) n.2641T>G | |
2 | g.166280373A>G | CA349079373 | SCN1A-AS1,SCN9A | c.2327T>C (p.Leu776Pro) c.2294T>C (p.Leu765Pro) c.1329T>C n.1029+3126A>G c.1940T>C (p.Leu647Pro) c.1583T>C (p.Leu528Pro) n.2641T>C | |
2 | g.166280373A>T | CA349079369 | SCN1A-AS1,SCN9A | c.2327T>A (p.Leu776His) c.2294T>A (p.Leu765His) c.1329T>A n.1029+3126A>T c.1940T>A (p.Leu647His) c.1583T>A (p.Leu528His) n.2641T>A | gnomAD v4 |
2 | g.166280374G>A | CA1944298 | SCN1A-AS1,SCN9A | c.2326C>T (p.Leu776Phe) c.2293C>T (p.Leu765Phe) c.1328C>T n.1029+3127G>A c.1939C>T (p.Leu647Phe) c.1582C>T (p.Leu528Phe) n.2640C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |