Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166280355A>C | CA349079269 | SCN1A-AS1,SCN9A | c.2343+2T>G (n.2343+2T>G) c.2310+2T>G (n.2310+2T>G) c.1345+2T>G n.1029+3108A>C c.1956+2T>G (n.1956+2T>G) c.1599+2T>G (n.1599+2T>G) n.2657+2T>G | |
2 | g.166280355A>G | CA349079271 | SCN1A-AS1,SCN9A | c.2343+2T>C (n.2343+2T>C) c.2310+2T>C (n.2310+2T>C) c.1345+2T>C n.1029+3108A>G c.1956+2T>C (n.1956+2T>C) c.1599+2T>C (n.1599+2T>C) n.2657+2T>C | gnomAD v4 |
2 | g.166280355A>T | CA349079273 | SCN1A-AS1,SCN9A | c.2343+2T>A (n.2343+2T>A) c.2310+2T>A (n.2310+2T>A) c.1345+2T>A n.1029+3108A>T c.1956+2T>A (n.1956+2T>A) c.1599+2T>A (n.1599+2T>A) n.2657+2T>A | |
2 | g.166280356_166280359del | CA2661767705 | SCN1A-AS1,SCN9A | c.2342_2343+2del c.2309_2310+2del c.1344_1345+2del n.1029+3109_1029+3112del c.1955_1956+2del c.1598_1599+2del n.2656_2657+2del | gnomAD v4 |
2 | g.166280356C>A | CA349079276 | SCN1A-AS1,SCN9A | c.2343+1G>T (n.2343+1G>T) c.2310+1G>T (n.2310+1G>T) c.1345+1G>T n.1029+3109C>A c.1956+1G>T (n.1956+1G>T) c.1599+1G>T (n.1599+1G>T) n.2657+1G>T | |
2 | g.166280356C>G | CA349079280 | SCN1A-AS1,SCN9A | c.2343+1G>C (n.2343+1G>C) c.2310+1G>C (n.2310+1G>C) c.1345+1G>C n.1029+3109C>G c.1956+1G>C (n.1956+1G>C) c.1599+1G>C (n.1599+1G>C) n.2657+1G>C | gnomAD v4 |
2 | g.166280356C>T | CA349079278 | SCN1A-AS1,SCN9A | c.2343+1G>A (n.2343+1G>A) c.2310+1G>A (n.2310+1G>A) c.1345+1G>A n.1029+3109C>T c.1956+1G>A (n.1956+1G>A) c.1599+1G>A (n.1599+1G>A) n.2657+1G>A | gnomAD v4 |
2 | g.166280357C>A | CA349079283 | SCN1A-AS1,SCN9A | c.2343G>T (p.Leu781Phe) c.2310G>T (p.Leu770Phe) c.1345G>T n.1029+3110C>A c.1956G>T (p.Leu652Phe) c.1599G>T (p.Leu533Phe) n.2657G>T | gnomAD v4 |
2 | g.166280357C= | CA1304965631 | SCN1A-AS1,SCN9A | c.2343G= (p.Leu781=) c.2310G= (p.Leu770=) c.1345G= n.1029+3110C= c.1956G= (p.Leu652=) c.1599G= (p.Leu533=) n.2657G= | |
2 | g.166280357C>G | CA349079286 | SCN1A-AS1,SCN9A | c.2343G>C (p.Leu781Phe) c.2310G>C (p.Leu770Phe) c.1345G>C n.1029+3110C>G c.1956G>C (p.Leu652Phe) c.1599G>C (p.Leu533Phe) n.2657G>C | |
2 | g.166280357C>T | CA429902010 | SCN1A-AS1,SCN9A | c.2343G>A (p.Leu781=) c.2310G>A (p.Leu770=) c.1345G>A n.1029+3110C>T c.1956G>A (p.Leu652=) c.1599G>A (p.Leu533=) n.2657G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166280358A= | CA1304965633 | SCN1A-AS1,SCN9A | c.2342T= (p.Leu781=) c.2309T= (p.Leu770=) c.1344T= n.1029+3111A= c.1955T= (p.Leu652=) c.1598T= (p.Leu533=) n.2656T= | |
2 | g.166280358A>C | CA349079289 | SCN1A-AS1,SCN9A | c.2342T>G (p.Leu781Trp) c.2309T>G (p.Leu770Trp) c.1344T>G n.1029+3111A>C c.1955T>G (p.Leu652Trp) c.1598T>G (p.Leu533Trp) n.2656T>G | |
2 | g.166280358A>G | CA349079293 | SCN1A-AS1,SCN9A | c.2342T>C (p.Leu781Ser) c.2309T>C (p.Leu770Ser) c.1344T>C n.1029+3111A>G c.1955T>C (p.Leu652Ser) c.1598T>C (p.Leu533Ser) n.2656T>C | ClinVar dbSNP gnomAD v4 |
2 | g.166280358A>T | CA349079291 | SCN1A-AS1,SCN9A | c.2342T>A (p.Leu781Ter) c.2309T>A (p.Leu770Ter) c.1344T>A n.1029+3111A>T c.1955T>A (p.Leu652Ter) c.1598T>A (p.Leu533Ter) n.2656T>A | dbSNP |
2 | g.166280359A= | CA1304965635 | SCN1A-AS1,SCN9A | c.2341T= (p.Leu781=) c.2308T= (p.Leu770=) c.1343T= n.1029+3112A= c.1954T= (p.Leu652=) c.1597T= (p.Leu533=) n.2655T= | |
2 | g.166280359A>C | CA1944295 | SCN1A-AS1,SCN9A | c.2341T>G (p.Leu781Val) c.2308T>G (p.Leu770Val) c.1343T>G n.1029+3112A>C c.1954T>G (p.Leu652Val) c.1597T>G (p.Leu533Val) n.2655T>G | dbSNP ExAC gnomAD v2 |
2 | g.166280359A>G | CA429902014 | SCN1A-AS1,SCN9A | c.2341T>C (p.Leu781=) c.2308T>C (p.Leu770=) c.1343T>C n.1029+3112A>G c.1954T>C (p.Leu652=) c.1597T>C (p.Leu533=) n.2655T>C | ClinVar |
2 | g.166280359A>T | CA349079306 | SCN1A-AS1,SCN9A | c.2341T>A (p.Leu781Met) c.2308T>A (p.Leu770Met) c.1343T>A n.1029+3112A>T c.1954T>A (p.Leu652Met) c.1597T>A (p.Leu533Met) n.2655T>A | |
2 | g.166280360A>C | CA349079309 | SCN1A-AS1,SCN9A | c.2340T>G (p.Asn780Lys) c.2307T>G (p.Asn769Lys) c.1342T>G n.1029+3113A>C c.1953T>G (p.Asn651Lys) c.1596T>G (p.Asn532Lys) n.2654T>G | |
2 | g.166280360A>G | CA429902020 | SCN1A-AS1,SCN9A | c.2340T>C (p.Asn780=) c.2307T>C (p.Asn769=) c.1342T>C n.1029+3113A>G c.1953T>C (p.Asn651=) c.1596T>C (p.Asn532=) n.2654T>C | gnomAD v4 |
2 | g.166280360A>T | CA349079311 | SCN1A-AS1,SCN9A | c.2340T>A (p.Asn780Lys) c.2307T>A (p.Asn769Lys) c.1342T>A n.1029+3113A>T c.1953T>A (p.Asn651Lys) c.1596T>A (p.Asn532Lys) n.2654T>A | |
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 |
2 | g.166280374G>C | CA349079377 | SCN1A-AS1,SCN9A | c.2326C>G (p.Leu776Val) c.2293C>G (p.Leu765Val) c.1328C>G n.1029+3127G>C c.1939C>G (p.Leu647Val) c.1582C>G (p.Leu528Val) n.2640C>G | |
2 | g.166280374G= | CA1304965649 | SCN1A-AS1,SCN9A | c.2326C= (p.Leu776=) c.2293C= (p.Leu765=) c.1328C= n.1029+3127G= c.1939C= (p.Leu647=) c.1582C= (p.Leu528=) n.2640C= | |
2 | g.166280374G>T | CA349079379 | SCN1A-AS1,SCN9A | c.2326C>A (p.Leu776Ile) c.2293C>A (p.Leu765Ile) c.1328C>A n.1029+3127G>T c.1939C>A (p.Leu647Ile) c.1582C>A (p.Leu528Ile) n.2640C>A | gnomAD v4 |
2 | g.166280375T>A | CA429902124 | SCN1A-AS1,SCN9A | c.2325A>T (p.Val775=) c.2292A>T (p.Val764=) c.1327A>T n.1029+3128T>A c.1938A>T (p.Val646=) c.1581A>T (p.Val527=) n.2639A>T | |
2 | g.166280375T>C | CA429902126 | SCN1A-AS1,SCN9A | c.2325A>G (p.Val775=) c.2292A>G (p.Val764=) c.1327A>G n.1029+3128T>C c.1938A>G (p.Val646=) c.1581A>G (p.Val527=) n.2639A>G | ClinVar dbSNP gnomAD v4 |
2 | g.166280375T>G | CA429902123 | SCN1A-AS1,SCN9A | c.2325A>C (p.Val775=) c.2292A>C (p.Val764=) c.1327A>C n.1029+3128T>G c.1938A>C (p.Val646=) c.1581A>C (p.Val527=) n.2639A>C | |
2 | g.166280376A= | CA1304965650 | SCN1A-AS1,SCN9A | c.2324T= (p.Val775=) c.2291T= (p.Val764=) c.1326T= n.1029+3129A= c.1937T= (p.Val646=) c.1580T= (p.Val527=) n.2638T= | |
2 | g.166280376A>C | CA349079382 | SCN1A-AS1,SCN9A | c.2324T>G (p.Val775Gly) c.2291T>G (p.Val764Gly) c.1326T>G n.1029+3129A>C c.1937T>G (p.Val646Gly) c.1580T>G (p.Val527Gly) n.2638T>G | |
2 | g.166280376A>G | CA349079384 | SCN1A-AS1,SCN9A | c.2324T>C (p.Val775Ala) c.2291T>C (p.Val764Ala) c.1326T>C n.1029+3129A>G c.1937T>C (p.Val646Ala) c.1580T>C (p.Val527Ala) n.2638T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166280376A>T | CA349079386 | SCN1A-AS1,SCN9A | c.2324T>A (p.Val775Glu) c.2291T>A (p.Val764Glu) c.1326T>A n.1029+3129A>T c.1937T>A (p.Val646Glu) c.1580T>A (p.Val527Glu) n.2638T>A | |
2 | g.166280377C>A | CA349079389 | SCN1A-AS1,SCN9A | c.2323G>T (p.Val775Leu) c.2290G>T (p.Val764Leu) c.1325G>T n.1029+3130C>A c.1936G>T (p.Val646Leu) c.1579G>T (p.Val527Leu) n.2637G>T | gnomAD v4 |
2 | g.166280377C>G | CA349079391 | SCN1A-AS1,SCN9A | c.2323G>C (p.Val775Leu) c.2290G>C (p.Val764Leu) c.1325G>C n.1029+3130C>G c.1936G>C (p.Val646Leu) c.1579G>C (p.Val527Leu) n.2637G>C | |
2 | g.166280377C>T | CA349079393 | SCN1A-AS1,SCN9A | c.2323G>A (p.Val775Ile) c.2290G>A (p.Val764Ile) c.1325G>A n.1029+3130C>T c.1936G>A (p.Val646Ile) c.1579G>A (p.Val527Ile) n.2637G>A | gnomAD v4 |
2 | g.166280381_166280399dup | CA658657114 | SCN1A-AS1,SCN9A | c.2305_2323dup (p.Val775AspfsTer2) c.2272_2290dup (p.Val764AspfsTer2) c.1307_1325dup n.1029+3134_1029+3152dup c.1918_1936dup (p.Val646AspfsTer2) c.1561_1579dup (p.Val527AspfsTer2) n.2619_2637dup | ClinVar dbSNP |
2 | g.166280378A= | CA1304965656 | SCN1A-AS1,SCN9A | c.2322T= (p.Asn774=) c.2289T= (p.Asn763=) c.1324T= n.1029+3131A= c.1935T= (p.Asn645=) c.1578T= (p.Asn526=) n.2636T= | |
2 | g.166280378A>C | CA349079396 | SCN1A-AS1,SCN9A | c.2322T>G (p.Asn774Lys) c.2289T>G (p.Asn763Lys) c.1324T>G n.1029+3131A>C c.1935T>G (p.Asn645Lys) c.1578T>G (p.Asn526Lys) n.2636T>G | |
2 | g.166280378A>G | CA429902132 | SCN1A-AS1,SCN9A | c.2322T>C (p.Asn774=) c.2289T>C (p.Asn763=) c.1324T>C n.1029+3131A>G c.1935T>C (p.Asn645=) c.1578T>C (p.Asn526=) n.2636T>C | gnomAD v4 |
2 | g.166280378A>T | CA349079398 | SCN1A-AS1,SCN9A | c.2322T>A (p.Asn774Lys) c.2289T>A (p.Asn763Lys) c.1324T>A n.1029+3131A>T c.1935T>A (p.Asn645Lys) c.1578T>A (p.Asn526Lys) n.2636T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166280379T>A | CA349079402 | SCN1A-AS1,SCN9A | c.2321A>T (p.Asn774Ile) c.2288A>T (p.Asn763Ile) c.1323A>T n.1029+3132T>A c.1934A>T (p.Asn645Ile) c.1577A>T (p.Asn526Ile) n.2635A>T | gnomAD v4 |
2 | g.166280379T>C | CA349079401 | SCN1A-AS1,SCN9A | c.2321A>G (p.Asn774Ser) c.2288A>G (p.Asn763Ser) c.1323A>G n.1029+3132T>C c.1934A>G (p.Asn645Ser) c.1577A>G (p.Asn526Ser) n.2635A>G | |
2 | g.166280379T>G | CA349079400 | SCN1A-AS1,SCN9A | c.2321A>C (p.Asn774Thr) c.2288A>C (p.Asn763Thr) c.1323A>C n.1029+3132T>G c.1934A>C (p.Asn645Thr) c.1577A>C (p.Asn526Thr) n.2635A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166280379T= | CA1304965657 | SCN1A-AS1,SCN9A | c.2321A= (p.Asn774=) c.2288A= (p.Asn763=) c.1323A= n.1029+3132T= c.1934A= (p.Asn645=) c.1577A= (p.Asn526=) n.2635A= | |
2 | g.166280383del | CA2661767707 | SCN1A-AS1,SCN9A | c.2321del (p.Asn774MetfsTer5) c.2288del (p.Asn763MetfsTer5) c.1323del n.1029+3136del c.1934del (p.Asn645MetfsTer5) c.1577del (p.Asn526MetfsTer5) n.2635del | gnomAD v4 |
2 | g.166280380T>A | CA349079405 | SCN1A-AS1,SCN9A | c.2320A>T (p.Asn774Tyr) c.2287A>T (p.Asn763Tyr) c.1322A>T n.1029+3133T>A c.1933A>T (p.Asn645Tyr) c.1576A>T (p.Asn526Tyr) n.2634A>T | |
2 | g.166280380T>C | CA349079407 | SCN1A-AS1,SCN9A | c.2320A>G (p.Asn774Asp) c.2287A>G (p.Asn763Asp) c.1322A>G n.1029+3133T>C c.1933A>G (p.Asn645Asp) c.1576A>G (p.Asn526Asp) n.2634A>G | |
2 | g.166280380T>G | CA349079410 | SCN1A-AS1,SCN9A | c.2320A>C (p.Asn774His) c.2287A>C (p.Asn763His) c.1322A>C n.1029+3133T>G c.1933A>C (p.Asn645His) c.1576A>C (p.Asn526His) n.2634A>C | |
2 | g.166280381T>A | CA349079411 | SCN1A-AS1,SCN9A | c.2319A>T (p.Lys773Asn) c.2286A>T (p.Lys762Asn) c.1321A>T n.1029+3134T>A c.1932A>T (p.Lys644Asn) c.1575A>T (p.Lys525Asn) n.2633A>T | |
2 | g.166280381T>C | CA429902142 | SCN1A-AS1,SCN9A | c.2319A>G (p.Lys773=) c.2286A>G (p.Lys762=) c.1321A>G n.1029+3134T>C c.1932A>G (p.Lys644=) c.1575A>G (p.Lys525=) n.2633A>G | |
2 | g.166280381T>G | CA349079413 | SCN1A-AS1,SCN9A | c.2319A>C (p.Lys773Asn) c.2286A>C (p.Lys762Asn) c.1321A>C n.1029+3134T>G c.1932A>C (p.Lys644Asn) c.1575A>C (p.Lys525Asn) n.2633A>C | |
2 | g.166280382T>A | CA349079416 | SCN1A-AS1,SCN9A | c.2318A>T (p.Lys773Ile) c.2285A>T (p.Lys762Ile) c.1320A>T n.1029+3135T>A c.1931A>T (p.Lys644Ile) c.1574A>T (p.Lys525Ile) n.2632A>T | |
2 | g.166280382T>C | CA349079419 | SCN1A-AS1,SCN9A | c.2318A>G (p.Lys773Arg) c.2285A>G (p.Lys762Arg) c.1320A>G n.1029+3135T>C c.1931A>G (p.Lys644Arg) c.1574A>G (p.Lys525Arg) n.2632A>G | |
2 | g.166280382T>G | CA349079421 | SCN1A-AS1,SCN9A | c.2318A>C (p.Lys773Thr) c.2285A>C (p.Lys762Thr) c.1320A>C n.1029+3135T>G c.1931A>C (p.Lys644Thr) c.1574A>C (p.Lys525Thr) n.2632A>C | |
2 | g.166280383T>A | CA349079424 | SCN1A-AS1,SCN9A | c.2317A>T (p.Lys773Ter) c.2284A>T (p.Lys762Ter) c.1319A>T n.1029+3136T>A c.1930A>T (p.Lys644Ter) c.1573A>T (p.Lys525Ter) n.2631A>T | dbSNP |
2 | g.166280383T>C | CA349079425 | SCN1A-AS1,SCN9A | c.2317A>G (p.Lys773Glu) c.2284A>G (p.Lys762Glu) c.1319A>G n.1029+3136T>C c.1930A>G (p.Lys644Glu) c.1573A>G (p.Lys525Glu) n.2631A>G | dbSNP gnomAD v4 |
2 | g.166280383T>G | CA349079428 | SCN1A-AS1,SCN9A | c.2317A>C (p.Lys773Gln) c.2284A>C (p.Lys762Gln) c.1319A>C n.1029+3136T>G c.1930A>C (p.Lys644Gln) c.1573A>C (p.Lys525Gln) n.2631A>C | |
2 | g.166280383T= | CA1304965658 | SCN1A-AS1,SCN9A | c.2317A= (p.Lys773=) c.2284A= (p.Lys762=) c.1319A= n.1029+3136T= c.1930A= (p.Lys644=) c.1573A= (p.Lys525=) n.2631A= | |
2 | g.166280384G>A | CA1944299 | SCN1A-AS1,SCN9A | c.2316C>T (p.Phe772=) c.2283C>T (p.Phe761=) c.1318C>T n.1029+3137G>A c.1929C>T (p.Phe643=) c.1572C>T (p.Phe524=) n.2630C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166280384G>C | CA349079432 | SCN1A-AS1,SCN9A | c.2316C>G (p.Phe772Leu) c.2283C>G (p.Phe761Leu) c.1318C>G n.1029+3137G>C c.1929C>G (p.Phe643Leu) c.1572C>G (p.Phe524Leu) n.2630C>G | gnomAD v4 |
2 | g.166280384G= | CA1304965660 | SCN1A-AS1,SCN9A | c.2316C= (p.Phe772=) c.2283C= (p.Phe761=) c.1318C= n.1029+3137G= c.1929C= (p.Phe643=) c.1572C= (p.Phe524=) n.2630C= | |
2 | g.166280384G>T | CA59796551 | SCN1A-AS1,SCN9A | c.2316C>A (p.Phe772Leu) c.2283C>A (p.Phe761Leu) c.1318C>A n.1029+3137G>T c.1929C>A (p.Phe643Leu) c.1572C>A (p.Phe524Leu) n.2630C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280385A>C | CA349079437 | SCN1A-AS1,SCN9A | c.2315T>G (p.Phe772Cys) c.2282T>G (p.Phe761Cys) c.1317T>G n.1029+3138A>C c.1928T>G (p.Phe643Cys) c.1571T>G (p.Phe524Cys) n.2629T>G | |
2 | g.166280385A>G | CA349079441 | SCN1A-AS1,SCN9A | c.2315T>C (p.Phe772Ser) c.2282T>C (p.Phe761Ser) c.1317T>C n.1029+3138A>G c.1928T>C (p.Phe643Ser) c.1571T>C (p.Phe524Ser) n.2629T>C | |
2 | g.166280385A>T | CA349079439 | SCN1A-AS1,SCN9A | c.2315T>A (p.Phe772Tyr) c.2282T>A (p.Phe761Tyr) c.1317T>A n.1029+3138A>T c.1928T>A (p.Phe643Tyr) c.1571T>A (p.Phe524Tyr) n.2629T>A | |
2 | g.166280386A>C | CA349079444 | SCN1A-AS1,SCN9A | c.2314T>G (p.Phe772Val) c.2281T>G (p.Phe761Val) c.1316T>G n.1029+3139A>C c.1927T>G (p.Phe643Val) c.1570T>G (p.Phe524Val) n.2628T>G | |
2 | g.166280386A>G | CA349079447 | SCN1A-AS1,SCN9A | c.2314T>C (p.Phe772Leu) c.2281T>C (p.Phe761Leu) c.1316T>C n.1029+3139A>G c.1927T>C (p.Phe643Leu) c.1570T>C (p.Phe524Leu) n.2628T>C | gnomAD v4 |
2 | g.166280386A>T | CA349079449 | SCN1A-AS1,SCN9A | c.2314T>A (p.Phe772Ile) c.2281T>A (p.Phe761Ile) c.1316T>A n.1029+3139A>T c.1927T>A (p.Phe643Ile) c.1570T>A (p.Phe524Ile) n.2628T>A | |
2 | g.166280387T>A | CA349079452 | SCN1A-AS1,SCN9A | c.2313A>T (p.Glu771Asp) c.2280A>T (p.Glu760Asp) c.1315A>T n.1029+3140T>A c.1926A>T (p.Glu642Asp) c.1569A>T (p.Glu523Asp) n.2627A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280387T>C | CA429902153 | SCN1A-AS1,SCN9A | c.2313A>G (p.Glu771=) c.2280A>G (p.Glu760=) c.1315A>G n.1029+3140T>C c.1926A>G (p.Glu642=) c.1569A>G (p.Glu523=) n.2627A>G | |
2 | g.166280387T>G | CA349079453 | SCN1A-AS1,SCN9A | c.2313A>C (p.Glu771Asp) c.2280A>C (p.Glu760Asp) c.1315A>C n.1029+3140T>G c.1926A>C (p.Glu642Asp) c.1569A>C (p.Glu523Asp) n.2627A>C | gnomAD v4 |
2 | g.166280387T= | CA1304965663 | SCN1A-AS1,SCN9A | c.2313A= (p.Glu771=) c.2280A= (p.Glu760=) c.1315A= n.1029+3140T= c.1926A= (p.Glu642=) c.1569A= (p.Glu523=) n.2627A= | |
2 | g.166280388T>A | CA349079457 | SCN1A-AS1,SCN9A | c.2312A>T (p.Glu771Val) c.2279A>T (p.Glu760Val) c.1314A>T n.1029+3141T>A c.1925A>T (p.Glu642Val) c.1568A>T (p.Glu523Val) n.2626A>T | gnomAD v4 |
2 | g.166280388T>C | CA349079458 | SCN1A-AS1,SCN9A | c.2312A>G (p.Glu771Gly) c.2279A>G (p.Glu760Gly) c.1314A>G n.1029+3141T>C c.1925A>G (p.Glu642Gly) c.1568A>G (p.Glu523Gly) n.2626A>G | gnomAD v4 |
2 | g.166280388T>G | CA349079461 | SCN1A-AS1,SCN9A | c.2312A>C (p.Glu771Ala) c.2279A>C (p.Glu760Ala) c.1314A>C n.1029+3141T>G c.1925A>C (p.Glu642Ala) c.1568A>C (p.Glu523Ala) n.2626A>C | |
2 | g.166280389C>A | CA349079463 | SCN1A-AS1,SCN9A | c.2311G>T (p.Glu771Ter) c.2278G>T (p.Glu760Ter) c.1313G>T n.1029+3142C>A c.1924G>T (p.Glu642Ter) c.1567G>T (p.Glu523Ter) n.2625G>T | dbSNP gnomAD v4 |
2 | g.166280389C= | CA1304965665 | SCN1A-AS1,SCN9A | c.2311G= (p.Glu771=) c.2278G= (p.Glu760=) c.1313G= n.1029+3142C= c.1924G= (p.Glu642=) c.1567G= (p.Glu523=) n.2625G= | |
2 | g.166280389C>G | CA349079466 | SCN1A-AS1,SCN9A | c.2311G>C (p.Glu771Gln) c.2278G>C (p.Glu760Gln) c.1313G>C n.1029+3142C>G c.1924G>C (p.Glu642Gln) c.1567G>C (p.Glu523Gln) n.2625G>C | |
2 | g.166280389C>T | CA59796554 | SCN1A-AS1,SCN9A | c.2311G>A (p.Glu771Lys) c.2278G>A (p.Glu760Lys) c.1313G>A n.1029+3142C>T c.1924G>A (p.Glu642Lys) c.1567G>A (p.Glu523Lys) n.2625G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280390C>A | CA349079470 | SCN1A-AS1,SCN9A | c.2310G>T (p.Glu770Asp) c.2277G>T (p.Glu759Asp) c.1312G>T n.1029+3143C>A c.1923G>T (p.Glu641Asp) c.1566G>T (p.Glu522Asp) n.2624G>T | gnomAD v4 |
2 | g.166280390C>G | CA349079468 | SCN1A-AS1,SCN9A | c.2310G>C (p.Glu770Asp) c.2277G>C (p.Glu759Asp) c.1312G>C n.1029+3143C>G c.1923G>C (p.Glu641Asp) c.1566G>C (p.Glu522Asp) n.2624G>C | |
2 | g.166280390C>T | CA429902161 | SCN1A-AS1,SCN9A | c.2310G>A (p.Glu770=) c.2277G>A (p.Glu759=) c.1312G>A n.1029+3143C>T c.1923G>A (p.Glu641=) c.1566G>A (p.Glu522=) n.2624G>A | |
2 | g.166280391T>A | CA349079473 | SCN1A-AS1,SCN9A | c.2309A>T (p.Glu770Val) c.2276A>T (p.Glu759Val) c.1311A>T n.1029+3144T>A c.1922A>T (p.Glu641Val) c.1565A>T (p.Glu522Val) n.2623A>T | |
2 | g.166280391T>C | CA349079475 | SCN1A-AS1,SCN9A | c.2309A>G (p.Glu770Gly) c.2276A>G (p.Glu759Gly) c.1311A>G n.1029+3144T>C c.1922A>G (p.Glu641Gly) c.1565A>G (p.Glu522Gly) n.2623A>G | gnomAD v4 |
2 | g.166280391T>G | CA349079478 | SCN1A-AS1,SCN9A | c.2309A>C (p.Glu770Ala) c.2276A>C (p.Glu759Ala) c.1311A>C n.1029+3144T>G c.1922A>C (p.Glu641Ala) c.1565A>C (p.Glu522Ala) n.2623A>C | |
2 | g.166280392del | CA2661767708 | SCN1A-AS1,SCN9A | c.2308del (p.Glu770ArgfsTer9) c.2275del (p.Glu759ArgfsTer9) c.1310del n.1029+3145del c.1921del (p.Glu641ArgfsTer9) c.1564del (p.Glu522ArgfsTer9) n.2622del | gnomAD v4 |
2 | g.166280392C>A | CA349079479 | SCN1A-AS1,SCN9A | c.2308G>T (p.Glu770Ter) c.2275G>T (p.Glu759Ter) c.1310G>T n.1029+3145C>A c.1921G>T (p.Glu641Ter) c.1564G>T (p.Glu522Ter) n.2622G>T | dbSNP gnomAD v4 |
2 | g.166280392C= | CA1304965667 | SCN1A-AS1,SCN9A | c.2308G= (p.Glu770=) c.2275G= (p.Glu759=) c.1310G= n.1029+3145C= c.1921G= (p.Glu641=) c.1564G= (p.Glu522=) n.2622G= | |
2 | g.166280392C>G | CA349079482 | SCN1A-AS1,SCN9A | c.2308G>C (p.Glu770Gln) c.2275G>C (p.Glu759Gln) c.1310G>C n.1029+3145C>G c.1921G>C (p.Glu641Gln) c.1564G>C (p.Glu522Gln) n.2622G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166280392C>T | CA1944300 | SCN1A-AS1,SCN9A | c.2308G>A (p.Glu770Lys) c.2275G>A (p.Glu759Lys) c.1310G>A n.1029+3145C>T c.1921G>A (p.Glu641Lys) c.1564G>A (p.Glu522Lys) n.2622G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166280393A= | CA1304965671 | SCN1A-AS1,SCN9A | c.2307T= (p.Thr769=) c.2274T= (p.Thr758=) c.1309T= n.1029+3146A= c.1920T= (p.Thr640=) c.1563T= (p.Thr521=) n.2621T= | |
2 | g.166280393A>C | CA429902165 | SCN1A-AS1,SCN9A | c.2307T>G (p.Thr769=) c.2274T>G (p.Thr758=) c.1309T>G n.1029+3146A>C c.1920T>G (p.Thr640=) c.1563T>G (p.Thr521=) n.2621T>G | |
2 | g.166280393A>G | CA429902166 | SCN1A-AS1,SCN9A | c.2307T>C (p.Thr769=) c.2274T>C (p.Thr758=) c.1309T>C n.1029+3146A>G c.1920T>C (p.Thr640=) c.1563T>C (p.Thr521=) n.2621T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166280393A>T | CA429902167 | SCN1A-AS1,SCN9A | c.2307T>A (p.Thr769=) c.2274T>A (p.Thr758=) c.1309T>A n.1029+3146A>T c.1920T>A (p.Thr640=) c.1563T>A (p.Thr521=) n.2621T>A | dbSNP COSMIC COSMIC |
2 | g.166280394G>A | CA349079485 | SCN1A-AS1,SCN9A | c.2306C>T (p.Thr769Ile) c.2273C>T (p.Thr758Ile) c.1308C>T n.1029+3147G>A c.1919C>T (p.Thr640Ile) c.1562C>T (p.Thr521Ile) n.2620C>T | |
2 | g.166280394G>C | CA349079487 | SCN1A-AS1,SCN9A | c.2306C>G (p.Thr769Ser) c.2273C>G (p.Thr758Ser) c.1308C>G n.1029+3147G>C c.1919C>G (p.Thr640Ser) c.1562C>G (p.Thr521Ser) n.2620C>G | |
2 | g.166280394G>T | CA349079490 | SCN1A-AS1,SCN9A | c.2306C>A (p.Thr769Asn) c.2273C>A (p.Thr758Asn) c.1308C>A n.1029+3147G>T c.1919C>A (p.Thr640Asn) c.1562C>A (p.Thr521Asn) n.2620C>A | gnomAD v4 |
2 | g.166280395T>A | CA349079493 | SCN1A-AS1,SCN9A | c.2305A>T (p.Thr769Ser) c.2272A>T (p.Thr758Ser) c.1307A>T n.1029+3148T>A c.1918A>T (p.Thr640Ser) c.1561A>T (p.Thr521Ser) n.2619A>T | gnomAD v4 |
2 | g.166280395T>C | CA349079495 | SCN1A-AS1,SCN9A | c.2305A>G (p.Thr769Ala) c.2272A>G (p.Thr758Ala) c.1307A>G n.1029+3148T>C c.1918A>G (p.Thr640Ala) c.1561A>G (p.Thr521Ala) n.2619A>G | gnomAD v4 |
2 | g.166280395T>G | CA349079497 | SCN1A-AS1,SCN9A | c.2305A>C (p.Thr769Pro) c.2272A>C (p.Thr758Pro) c.1307A>C n.1029+3148T>G c.1918A>C (p.Thr640Pro) c.1561A>C (p.Thr521Pro) n.2619A>C | |
2 | g.166280396C>A | CA349079501 | SCN1A-AS1,SCN9A | c.2304G>T (p.Met768Ile) c.2271G>T (p.Met757Ile) c.1306G>T n.1029+3149C>A c.1917G>T (p.Met639Ile) c.1560G>T (p.Met520Ile) n.2618G>T | gnomAD v4 |
2 | g.166280396C= | CA1304965674 | SCN1A-AS1,SCN9A | c.2304G= (p.Met768=) c.2271G= (p.Met757=) c.1306G= n.1029+3149C= c.1917G= (p.Met639=) c.1560G= (p.Met520=) n.2618G= | |
2 | g.166280396C>G | CA349079504 | SCN1A-AS1,SCN9A | c.2304G>C (p.Met768Ile) c.2271G>C (p.Met757Ile) c.1306G>C n.1029+3149C>G c.1917G>C (p.Met639Ile) c.1560G>C (p.Met520Ile) n.2618G>C | |
2 | g.166280396C>T | CA1944301 | SCN1A-AS1,SCN9A | c.2304G>A (p.Met768Ile) c.2271G>A (p.Met757Ile) c.1306G>A n.1029+3149C>T c.1917G>A (p.Met639Ile) c.1560G>A (p.Met520Ile) n.2618G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280397A>C | CA349079505 | SCN1A-AS1,SCN9A | c.2303T>G (p.Met768Arg) c.2270T>G (p.Met757Arg) c.1305T>G n.1029+3150A>C c.1916T>G (p.Met639Arg) c.1559T>G (p.Met520Arg) n.2617T>G | |
2 | g.166280397A>G | CA349079506 | SCN1A-AS1,SCN9A | c.2303T>C (p.Met768Thr) c.2270T>C (p.Met757Thr) c.1305T>C n.1029+3150A>G c.1916T>C (p.Met639Thr) c.1559T>C (p.Met520Thr) n.2617T>C | gnomAD v4 |
2 | g.166280397A>T | CA349079507 | SCN1A-AS1,SCN9A | c.2303T>A (p.Met768Lys) c.2270T>A (p.Met757Lys) c.1305T>A n.1029+3150A>T c.1916T>A (p.Met639Lys) c.1559T>A (p.Met520Lys) n.2617T>A | ClinVar dbSNP |
2 | g.166280398T>A | CA349079508 | SCN1A-AS1,SCN9A | c.2302A>T (p.Met768Leu) c.2269A>T (p.Met757Leu) c.1304A>T n.1029+3151T>A c.1915A>T (p.Met639Leu) c.1558A>T (p.Met520Leu) n.2616A>T | |
2 | g.166280398T>C | CA349079509 | SCN1A-AS1,SCN9A | c.2302A>G (p.Met768Val) c.2269A>G (p.Met757Val) c.1304A>G n.1029+3151T>C c.1915A>G (p.Met639Val) c.1558A>G (p.Met520Val) n.2616A>G | ClinVar dbSNP gnomAD v4 |
2 | g.166280398T>G | CA349079510 | SCN1A-AS1,SCN9A | c.2302A>C (p.Met768Leu) c.2269A>C (p.Met757Leu) c.1304A>C n.1029+3151T>G c.1915A>C (p.Met639Leu) c.1558A>C (p.Met520Leu) n.2616A>C | |
2 | g.166280398T= | CA1304965676 | SCN1A-AS1,SCN9A | c.2302A= (p.Met768=) c.2269A= (p.Met757=) c.1304A= n.1029+3151T= c.1915A= (p.Met639=) c.1558A= (p.Met520=) n.2616A= | |
2 | g.166280399T>A | CA429902179 | SCN1A-AS1,SCN9A | c.2301A>T (p.Pro767=) c.2268A>T (p.Pro756=) c.1303A>T n.1029+3152T>A c.1914A>T (p.Pro638=) c.1557A>T (p.Pro519=) n.2615A>T | |
2 | g.166280399T>C | CA429902180 | SCN1A-AS1,SCN9A | c.2301A>G (p.Pro767=) c.2268A>G (p.Pro756=) c.1303A>G n.1029+3152T>C c.1914A>G (p.Pro638=) c.1557A>G (p.Pro519=) n.2615A>G | gnomAD v4 |
2 | g.166280399T>G | CA429902181 | SCN1A-AS1,SCN9A | c.2301A>C (p.Pro767=) c.2268A>C (p.Pro756=) c.1303A>C n.1029+3152T>G c.1914A>C (p.Pro638=) c.1557A>C (p.Pro519=) n.2615A>C | |
2 | g.166280400G>A | CA349079511 | SCN1A-AS1,SCN9A | c.2300C>T (p.Pro767Leu) c.2267C>T (p.Pro756Leu) c.1302C>T n.1029+3153G>A c.1913C>T (p.Pro638Leu) c.1556C>T (p.Pro519Leu) n.2614C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166280400G>C | CA349079512 | SCN1A-AS1,SCN9A | c.2300C>G (p.Pro767Arg) c.2267C>G (p.Pro756Arg) c.1302C>G n.1029+3153G>C c.1913C>G (p.Pro638Arg) c.1556C>G (p.Pro519Arg) n.2614C>G | |
2 | g.166280400G= | CA1304965680 | SCN1A-AS1,SCN9A | c.2300C= (p.Pro767=) c.2267C= (p.Pro756=) c.1302C= n.1029+3153G= c.1913C= (p.Pro638=) c.1556C= (p.Pro519=) n.2614C= | |
2 | g.166280400G>T | CA59796578 | SCN1A-AS1,SCN9A | c.2300C>A (p.Pro767Gln) c.2267C>A (p.Pro756Gln) c.1302C>A n.1029+3153G>T c.1913C>A (p.Pro638Gln) c.1556C>A (p.Pro519Gln) n.2614C>A | ClinVar dbSNP gnomAD v4 |
2 | g.166280401G>A | CA349079513 | SCN1A-AS1,SCN9A | c.2299C>T (p.Pro767Ser) c.2266C>T (p.Pro756Ser) c.1301C>T n.1029+3154G>A c.1912C>T (p.Pro638Ser) c.1555C>T (p.Pro519Ser) n.2613C>T | ClinVar dbSNP gnomAD v4 |
2 | g.166280401G>C | CA349079514 | SCN1A-AS1,SCN9A | c.2299C>G (p.Pro767Ala) c.2266C>G (p.Pro756Ala) c.1301C>G n.1029+3154G>C c.1912C>G (p.Pro638Ala) c.1555C>G (p.Pro519Ala) n.2613C>G | |
2 | g.166280401G= | CA1304965683 | SCN1A-AS1,SCN9A | c.2299C= (p.Pro767=) c.2266C= (p.Pro756=) c.1301C= n.1029+3154G= c.1912C= (p.Pro638=) c.1555C= (p.Pro519=) n.2613C= | |
2 | g.166280401G>T | CA1944302 | SCN1A-AS1,SCN9A | c.2299C>A (p.Pro767Thr) c.2266C>A (p.Pro756Thr) c.1301C>A n.1029+3154G>T c.1912C>A (p.Pro638Thr) c.1555C>A (p.Pro519Thr) n.2613C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280402G>A | CA1944303 | SCN1A-AS1,SCN9A | c.2298C>T (p.His766=) c.2265C>T (p.His755=) c.1300C>T n.1029+3155G>A c.1911C>T (p.His637=) c.1554C>T (p.His518=) n.2612C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280402G>C | CA349079516 | SCN1A-AS1,SCN9A | c.2298C>G (p.His766Gln) c.2265C>G (p.His755Gln) c.1300C>G n.1029+3155G>C c.1911C>G (p.His637Gln) c.1554C>G (p.His518Gln) n.2612C>G | |
2 | g.166280402G= | CA1304965687 | SCN1A-AS1,SCN9A | c.2298C= (p.His766=) c.2265C= (p.His755=) c.1300C= n.1029+3155G= c.1911C= (p.His637=) c.1554C= (p.His518=) n.2612C= | |
2 | g.166280402G>T | CA349079515 | SCN1A-AS1,SCN9A | c.2298C>A (p.His766Gln) c.2265C>A (p.His755Gln) c.1300C>A n.1029+3155G>T c.1911C>A (p.His637Gln) c.1554C>A (p.His518Gln) n.2612C>A | gnomAD v4 |
2 | g.166280403T>A | CA349079517 | SCN1A-AS1,SCN9A | c.2297A>T (p.His766Leu) c.2264A>T (p.His755Leu) c.1299A>T n.1029+3156T>A c.1910A>T (p.His637Leu) c.1553A>T (p.His518Leu) n.2611A>T | |
2 | g.166280403T>C | CA349079518 | SCN1A-AS1,SCN9A | c.2297A>G (p.His766Arg) c.2264A>G (p.His755Arg) c.1299A>G n.1029+3156T>C c.1910A>G (p.His637Arg) c.1553A>G (p.His518Arg) n.2611A>G | gnomAD v4 |
2 | g.166280403T>G | CA349079519 | SCN1A-AS1,SCN9A | c.2297A>C (p.His766Pro) c.2264A>C (p.His755Pro) c.1299A>C n.1029+3156T>G c.1910A>C (p.His637Pro) c.1553A>C (p.His518Pro) n.2611A>C | |
2 | g.166280404G>A | CA349079520 | SCN1A-AS1,SCN9A | c.2296C>T (p.His766Tyr) c.2263C>T (p.His755Tyr) c.1298C>T n.1029+3157G>A c.1909C>T (p.His637Tyr) c.1552C>T (p.His518Tyr) n.2610C>T | gnomAD v4 |
2 | g.166280404G>C | CA349079521 | SCN1A-AS1,SCN9A | c.2296C>G (p.His766Asp) c.2263C>G (p.His755Asp) c.1298C>G n.1029+3157G>C c.1909C>G (p.His637Asp) c.1552C>G (p.His518Asp) n.2610C>G | |
2 | g.166280404G>T | CA349079522 | SCN1A-AS1,SCN9A | c.2296C>A (p.His766Asn) c.2263C>A (p.His755Asn) c.1298C>A n.1029+3157G>T c.1909C>A (p.His637Asn) c.1552C>A (p.His518Asn) n.2610C>A | gnomAD v4 |
2 | g.166280405G>A | CA429902187 | SCN1A-AS1,SCN9A | c.2295C>T (p.His765=) c.2262C>T (p.His754=) c.1297C>T n.1029+3158G>A c.1908C>T (p.His636=) c.1551C>T (p.His517=) n.2609C>T | ClinVar dbSNP gnomAD v4 |
2 | g.166280405G>C | CA349079523 | SCN1A-AS1,SCN9A | c.2295C>G (p.His765Gln) c.2262C>G (p.His754Gln) c.1297C>G n.1029+3158G>C c.1908C>G (p.His636Gln) c.1551C>G (p.His517Gln) n.2609C>G | |
2 | g.166280405G>T | CA349079524 | SCN1A-AS1,SCN9A | c.2295C>A (p.His765Gln) c.2262C>A (p.His754Gln) c.1297C>A n.1029+3158G>T c.1908C>A (p.His636Gln) c.1551C>A (p.His517Gln) n.2609C>A | gnomAD v4 |
2 | g.166280406T>A | CA349079525 | SCN1A-AS1,SCN9A | c.2294A>T (p.His765Leu) c.2261A>T (p.His754Leu) c.1296A>T n.1029+3159T>A c.1907A>T (p.His636Leu) c.1550A>T (p.His517Leu) n.2608A>T | |
2 | g.166280406T>C | CA349079526 | SCN1A-AS1,SCN9A | c.2294A>G (p.His765Arg) c.2261A>G (p.His754Arg) c.1296A>G n.1029+3159T>C c.1907A>G (p.His636Arg) c.1550A>G (p.His517Arg) n.2608A>G | |
2 | g.166280406T>G | CA349079527 | SCN1A-AS1,SCN9A | c.2294A>C (p.His765Pro) c.2261A>C (p.His754Pro) c.1296A>C n.1029+3159T>G c.1907A>C (p.His636Pro) c.1550A>C (p.His517Pro) n.2608A>C | |
2 | g.166280407G>A | CA349079528 | SCN1A-AS1,SCN9A | c.2293C>T (p.His765Tyr) c.2260C>T (p.His754Tyr) c.1295C>T n.1029+3160G>A c.1906C>T (p.His636Tyr) c.1549C>T (p.His517Tyr) n.2607C>T | gnomAD v4 |
2 | g.166280407G>C | CA349079529 | SCN1A-AS1,SCN9A | c.2293C>G (p.His765Asp) c.2260C>G (p.His754Asp) c.1295C>G n.1029+3160G>C c.1906C>G (p.His636Asp) c.1549C>G (p.His517Asp) n.2607C>G | |
2 | g.166280407G>T | CA349079530 | SCN1A-AS1,SCN9A | c.2293C>A (p.His765Asn) c.2260C>A (p.His754Asn) c.1295C>A n.1029+3160G>T c.1906C>A (p.His636Asn) c.1549C>A (p.His517Asn) n.2607C>A | |
2 | g.166280408T>A | CA349079532 | SCN1A-AS1,SCN9A | c.2292A>T (p.Glu764Asp) c.2259A>T (p.Glu753Asp) c.1294A>T n.1029+3161T>A c.1905A>T (p.Glu635Asp) c.1548A>T (p.Glu516Asp) n.2606A>T | |
2 | g.166280408T>C | CA429902205 | SCN1A-AS1,SCN9A | c.2292A>G (p.Glu764=) c.2259A>G (p.Glu753=) c.1294A>G n.1029+3161T>C c.1905A>G (p.Glu635=) c.1548A>G (p.Glu516=) n.2606A>G | gnomAD v4 |
2 | g.166280408T>G | CA349079531 | SCN1A-AS1,SCN9A | c.2292A>C (p.Glu764Asp) c.2259A>C (p.Glu753Asp) c.1294A>C n.1029+3161T>G c.1905A>C (p.Glu635Asp) c.1548A>C (p.Glu516Asp) n.2606A>C | |
2 | g.166280409T>A | CA349079533 | SCN1A-AS1,SCN9A | c.2291A>T (p.Glu764Val) c.2258A>T (p.Glu753Val) c.1293A>T n.1029+3162T>A c.1904A>T (p.Glu635Val) c.1547A>T (p.Glu516Val) n.2605A>T | |
2 | g.166280409T>C | CA349079535 | SCN1A-AS1,SCN9A | c.2291A>G (p.Glu764Gly) c.2258A>G (p.Glu753Gly) c.1293A>G n.1029+3162T>C c.1904A>G (p.Glu635Gly) c.1547A>G (p.Glu516Gly) n.2605A>G | |
2 | g.166280409T>G | CA349079534 | SCN1A-AS1,SCN9A | c.2291A>C (p.Glu764Ala) c.2258A>C (p.Glu753Ala) c.1293A>C n.1029+3162T>G c.1904A>C (p.Glu635Ala) c.1547A>C (p.Glu516Ala) n.2605A>C | |
2 | g.166280410C>A | CA349079536 | SCN1A-AS1,SCN9A | c.2290G>T (p.Glu764Ter) c.2257G>T (p.Glu753Ter) c.1292G>T n.1029+3163C>A c.1903G>T (p.Glu635Ter) c.1546G>T (p.Glu516Ter) n.2604G>T | dbSNP gnomAD v4 |
2 | g.166280410C= | CA1304965689 | SCN1A-AS1,SCN9A | c.2290G= (p.Glu764=) c.2257G= (p.Glu753=) c.1292G= n.1029+3163C= c.1903G= (p.Glu635=) c.1546G= (p.Glu516=) n.2604G= | |
2 | g.166280410C>G | CA349079538 | SCN1A-AS1,SCN9A | c.2290G>C (p.Glu764Gln) c.2257G>C (p.Glu753Gln) c.1292G>C n.1029+3163C>G c.1903G>C (p.Glu635Gln) c.1546G>C (p.Glu516Gln) n.2604G>C | |
2 | g.166280410C>T | CA349079537 | SCN1A-AS1,SCN9A | c.2290G>A (p.Glu764Lys) c.2257G>A (p.Glu753Lys) c.1292G>A n.1029+3163C>T c.1903G>A (p.Glu635Lys) c.1546G>A (p.Glu516Lys) n.2604G>A | gnomAD v4 |
2 | g.166280411C>A | CA349079539 | SCN1A-AS1,SCN9A | c.2289G>T (p.Met763Ile) c.2256G>T (p.Met752Ile) c.1291G>T n.1029+3164C>A c.1902G>T (p.Met634Ile) c.1545G>T (p.Met515Ile) n.2603G>T | |
2 | g.166280411C>G | CA349079540 | SCN1A-AS1,SCN9A | c.2289G>C (p.Met763Ile) c.2256G>C (p.Met752Ile) c.1291G>C n.1029+3164C>G c.1902G>C (p.Met634Ile) c.1545G>C (p.Met515Ile) n.2603G>C | gnomAD v4 |
2 | g.166280411C>T | CA349079541 | SCN1A-AS1,SCN9A | c.2289G>A (p.Met763Ile) c.2256G>A (p.Met752Ile) c.1291G>A n.1029+3164C>T c.1902G>A (p.Met634Ile) c.1545G>A (p.Met515Ile) n.2603G>A | |
2 | g.166280412A>C | CA349079542 | SCN1A-AS1,SCN9A | c.2288T>G (p.Met763Arg) c.2255T>G (p.Met752Arg) c.1290T>G n.1029+3165A>C c.1901T>G (p.Met634Arg) c.1544T>G (p.Met515Arg) n.2602T>G | |
2 | g.166280412A>G | CA349079543 | SCN1A-AS1,SCN9A | c.2288T>C (p.Met763Thr) c.2255T>C (p.Met752Thr) c.1290T>C n.1029+3165A>G c.1901T>C (p.Met634Thr) c.1544T>C (p.Met515Thr) n.2602T>C | gnomAD v4 |
2 | g.166280412A>T | CA349079544 | SCN1A-AS1,SCN9A | c.2288T>A (p.Met763Lys) c.2255T>A (p.Met752Lys) c.1290T>A n.1029+3165A>T c.1901T>A (p.Met634Lys) c.1544T>A (p.Met515Lys) n.2602T>A | gnomAD v4 |
2 | g.166280413T>A | CA349079545 | SCN1A-AS1,SCN9A | c.2287A>T (p.Met763Leu) c.2254A>T (p.Met752Leu) c.1289A>T n.1029+3166T>A c.1900A>T (p.Met634Leu) c.1543A>T (p.Met515Leu) n.2601A>T | |
2 | g.166280413T>C | CA59796589 | SCN1A-AS1,SCN9A | c.2287A>G (p.Met763Val) c.2254A>G (p.Met752Val) c.1289A>G n.1029+3166T>C c.1900A>G (p.Met634Val) c.1543A>G (p.Met515Val) n.2601A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280413T>G | CA349079546 | SCN1A-AS1,SCN9A | c.2287A>C (p.Met763Leu) c.2254A>C (p.Met752Leu) c.1289A>C n.1029+3166T>G c.1900A>C (p.Met634Leu) c.1543A>C (p.Met515Leu) n.2601A>C | |
2 | g.166280413T= | CA1304965693 | SCN1A-AS1,SCN9A | c.2287A= (p.Met763=) c.2254A= (p.Met752=) c.1289A= n.1029+3166T= c.1900A= (p.Met634=) c.1543A= (p.Met515=) n.2601A= | |
2 | g.166280414A>C | CA429902223 | SCN1A-AS1,SCN9A | c.2286T>G (p.Ala762=) c.2253T>G (p.Ala751=) c.1288T>G n.1029+3167A>C c.1899T>G (p.Ala633=) c.1542T>G (p.Ala514=) n.2600T>G | |
2 | g.166280414A>G | CA429902224 | SCN1A-AS1,SCN9A | c.2286T>C (p.Ala762=) c.2253T>C (p.Ala751=) c.1288T>C n.1029+3167A>G c.1899T>C (p.Ala633=) c.1542T>C (p.Ala514=) n.2600T>C | ClinVar dbSNP gnomAD v4 |
2 | g.166280414A>T | CA429902225 | SCN1A-AS1,SCN9A | c.2286T>A (p.Ala762=) c.2253T>A (p.Ala751=) c.1288T>A n.1029+3167A>T c.1899T>A (p.Ala633=) c.1542T>A (p.Ala514=) n.2600T>A | |
2 | g.166280415G>A | CA349079547 | SCN1A-AS1,SCN9A | c.2285C>T (p.Ala762Val) c.2252C>T (p.Ala751Val) c.1287C>T n.1029+3168G>A c.1898C>T (p.Ala633Val) c.1541C>T (p.Ala514Val) n.2599C>T | gnomAD v4 COSMIC COSMIC |
2 | g.166280415G>C | CA349079548 | SCN1A-AS1,SCN9A | c.2285C>G (p.Ala762Gly) c.2252C>G (p.Ala751Gly) c.1287C>G n.1029+3168G>C c.1898C>G (p.Ala633Gly) c.1541C>G (p.Ala514Gly) n.2599C>G | gnomAD v4 |
2 | g.166280415G>T | CA349079549 | SCN1A-AS1,SCN9A | c.2285C>A (p.Ala762Asp) c.2252C>A (p.Ala751Asp) c.1287C>A n.1029+3168G>T c.1898C>A (p.Ala633Asp) c.1541C>A (p.Ala514Asp) n.2599C>A | |
2 | g.166280416C>A | CA349079550 | SCN1A-AS1,SCN9A | c.2284G>T (p.Ala762Ser) c.2251G>T (p.Ala751Ser) c.1286G>T n.1029+3169C>A c.1897G>T (p.Ala633Ser) c.1540G>T (p.Ala514Ser) n.2598G>T | gnomAD v4 |
2 | g.166280416C>G | CA349079552 | SCN1A-AS1,SCN9A | c.2284G>C (p.Ala762Pro) c.2251G>C (p.Ala751Pro) c.1286G>C n.1029+3169C>G c.1897G>C (p.Ala633Pro) c.1540G>C (p.Ala514Pro) n.2598G>C | |
2 | g.166280416C>T | CA349079551 | SCN1A-AS1,SCN9A | c.2284G>A (p.Ala762Thr) c.2251G>A (p.Ala751Thr) c.1286G>A n.1029+3169C>T c.1897G>A (p.Ala633Thr) c.1540G>A (p.Ala514Thr) n.2598G>A | gnomAD v4 |
2 | g.166280417C>A | CA349079553 | SCN1A-AS1,SCN9A | c.2283G>T (p.Met761Ile) c.2250G>T (p.Met750Ile) c.1285G>T n.1029+3170C>A c.1896G>T (p.Met632Ile) c.1539G>T (p.Met513Ile) n.2597G>T | gnomAD v4 |
2 | g.166280417C>G | CA349079554 | SCN1A-AS1,SCN9A | c.2283G>C (p.Met761Ile) c.2250G>C (p.Met750Ile) c.1285G>C n.1029+3170C>G c.1896G>C (p.Met632Ile) c.1539G>C (p.Met513Ile) n.2597G>C | |
2 | g.166280417C>T | CA349079555 | SCN1A-AS1,SCN9A | c.2283G>A (p.Met761Ile) c.2250G>A (p.Met750Ile) c.1285G>A n.1029+3170C>T c.1896G>A (p.Met632Ile) c.1539G>A (p.Met513Ile) n.2597G>A | gnomAD v4 |
2 | g.166280418A= | CA1304965696 | SCN1A-AS1,SCN9A | c.2282T= (p.Met761=) c.2249T= (p.Met750=) c.1284T= n.1029+3171A= c.1895T= (p.Met632=) c.1538T= (p.Met513=) n.2596T= | |
2 | g.166280418A>C | CA349079556 | SCN1A-AS1,SCN9A | c.2282T>G (p.Met761Arg) c.2249T>G (p.Met750Arg) c.1284T>G n.1029+3171A>C c.1895T>G (p.Met632Arg) c.1538T>G (p.Met513Arg) n.2596T>G | |
2 | g.166280418A>G | CA349079557 | SCN1A-AS1,SCN9A | c.2282T>C (p.Met761Thr) c.2249T>C (p.Met750Thr) c.1284T>C n.1029+3171A>G c.1895T>C (p.Met632Thr) c.1538T>C (p.Met513Thr) n.2596T>C | |
2 | g.166280418A>T | CA349079558 | SCN1A-AS1,SCN9A | c.2282T>A (p.Met761Lys) c.2249T>A (p.Met750Lys) c.1284T>A n.1029+3171A>T c.1895T>A (p.Met632Lys) c.1538T>A (p.Met513Lys) n.2596T>A | ClinVar dbSNP |
2 | g.166280419T>A | CA349079559 | SCN1A-AS1,SCN9A | c.2281A>T (p.Met761Leu) c.2248A>T (p.Met750Leu) c.1283A>T n.1029+3172T>A c.1894A>T (p.Met632Leu) c.1537A>T (p.Met513Leu) n.2595A>T | |
2 | g.166280419T>C | CA349079560 | SCN1A-AS1,SCN9A | c.2281A>G (p.Met761Val) c.2248A>G (p.Met750Val) c.1283A>G n.1029+3172T>C c.1894A>G (p.Met632Val) c.1537A>G (p.Met513Val) n.2595A>G | |
2 | g.166280419T>G | CA349079561 | SCN1A-AS1,SCN9A | c.2281A>C (p.Met761Leu) c.2248A>C (p.Met750Leu) c.1283A>C n.1029+3172T>G c.1894A>C (p.Met632Leu) c.1537A>C (p.Met513Leu) n.2595A>C | |
2 | g.166280420A>C | CA349079563 | SCN1A-AS1,SCN9A | c.2280T>G (p.Phe760Leu) c.2247T>G (p.Phe749Leu) c.1282T>G n.1029+3173A>C c.1893T>G (p.Phe631Leu) c.1536T>G (p.Phe512Leu) n.2594T>G | |
2 | g.166280420A>G | CA429902236 | SCN1A-AS1,SCN9A | c.2280T>C (p.Phe760=) c.2247T>C (p.Phe749=) c.1282T>C n.1029+3173A>G c.1893T>C (p.Phe631=) c.1536T>C (p.Phe512=) n.2594T>C | gnomAD v4 |
2 | g.166280420A>T | CA349079562 | SCN1A-AS1,SCN9A | c.2280T>A (p.Phe760Leu) c.2247T>A (p.Phe749Leu) c.1282T>A n.1029+3173A>T c.1893T>A (p.Phe631Leu) c.1536T>A (p.Phe512Leu) n.2594T>A | |
2 | g.166280421A= | CA1304965698 | SCN1A-AS1,SCN9A | c.2279T= (p.Phe760=) c.2246T= (p.Phe749=) c.1281T= n.1029+3174A= c.1892T= (p.Phe631=) c.1535T= (p.Phe512=) n.2593T= | |
2 | g.166280421A>C | CA349079564 | SCN1A-AS1,SCN9A | c.2279T>G (p.Phe760Cys) c.2246T>G (p.Phe749Cys) c.1281T>G n.1029+3174A>C c.1892T>G (p.Phe631Cys) c.1535T>G (p.Phe512Cys) n.2593T>G | |
2 | g.166280421A>G | CA349079565 | SCN1A-AS1,SCN9A | c.2279T>C (p.Phe760Ser) c.2246T>C (p.Phe749Ser) c.1281T>C n.1029+3174A>G c.1892T>C (p.Phe631Ser) c.1535T>C (p.Phe512Ser) n.2593T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166280421A>T | CA349079566 | SCN1A-AS1,SCN9A | c.2279T>A (p.Phe760Tyr) c.2246T>A (p.Phe749Tyr) c.1281T>A n.1029+3174A>T c.1892T>A (p.Phe631Tyr) c.1535T>A (p.Phe512Tyr) n.2593T>A | |
2 | g.166280422A>C | CA349079567 | SCN1A-AS1,SCN9A | c.2278T>G (p.Phe760Val) c.2245T>G (p.Phe749Val) c.1280T>G n.1029+3175A>C c.1891T>G (p.Phe631Val) c.1534T>G (p.Phe512Val) n.2592T>G | |
2 | g.166280422A>G | CA349079568 | SCN1A-AS1,SCN9A | c.2278T>C (p.Phe760Leu) c.2245T>C (p.Phe749Leu) c.1280T>C n.1029+3175A>G c.1891T>C (p.Phe631Leu) c.1534T>C (p.Phe512Leu) n.2592T>C | |
2 | g.166280422A>T | CA349079569 | SCN1A-AS1,SCN9A | c.2278T>A (p.Phe760Ile) c.2245T>A (p.Phe749Ile) c.1280T>A n.1029+3175A>T c.1891T>A (p.Phe631Ile) c.1534T>A (p.Phe512Ile) n.2592T>A | gnomAD v4 |
2 | g.166280423T>A | CA349079571 | SCN1A-AS1,SCN9A | c.2277A>T (p.Leu759Phe) c.2244A>T (p.Leu748Phe) c.1279A>T n.1029+3176T>A c.1890A>T (p.Leu630Phe) c.1533A>T (p.Leu511Phe) n.2591A>T | ClinVar dbSNP |
2 | g.166280423T>C | CA59796596 | SCN1A-AS1,SCN9A | c.2277A>G (p.Leu759=) c.2244A>G (p.Leu748=) c.1279A>G n.1029+3176T>C c.1890A>G (p.Leu630=) c.1533A>G (p.Leu511=) n.2591A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280423T>G | CA349079570 | SCN1A-AS1,SCN9A | c.2277A>C (p.Leu759Phe) c.2244A>C (p.Leu748Phe) c.1279A>C n.1029+3176T>G c.1890A>C (p.Leu630Phe) c.1533A>C (p.Leu511Phe) n.2591A>C | |
2 | g.166280423T= | CA1304965702 | SCN1A-AS1,SCN9A | c.2277A= (p.Leu759=) c.2244A= (p.Leu748=) c.1279A= n.1029+3176T= c.1890A= (p.Leu630=) c.1533A= (p.Leu511=) n.2591A= | |
2 | g.166280424A>C | CA349079572 | SCN1A-AS1,SCN9A | c.2276T>G (p.Leu759Ter) c.2243T>G (p.Leu748Ter) c.1278T>G n.1029+3177A>C c.1889T>G (p.Leu630Ter) c.1532T>G (p.Leu511Ter) n.2590T>G | |
2 | g.166280424A>G | CA349079573 | SCN1A-AS1,SCN9A | c.2276T>C (p.Leu759Ser) c.2243T>C (p.Leu748Ser) c.1278T>C n.1029+3177A>G c.1889T>C (p.Leu630Ser) c.1532T>C (p.Leu511Ser) n.2590T>C | gnomAD v4 |
2 | g.166280424A>T | CA349079574 | SCN1A-AS1,SCN9A | c.2276T>A (p.Leu759Ter) c.2243T>A (p.Leu748Ter) c.1278T>A n.1029+3177A>T c.1889T>A (p.Leu630Ter) c.1532T>A (p.Leu511Ter) n.2590T>A | |
2 | g.166280425A>C | CA349079575 | SCN1A-AS1,SCN9A | c.2275T>G (p.Leu759Val) c.2242T>G (p.Leu748Val) c.1277T>G n.1029+3178A>C c.1888T>G (p.Leu630Val) c.1531T>G (p.Leu511Val) n.2589T>G | |
2 | g.166280425A>G | CA429902242 | SCN1A-AS1,SCN9A | c.2275T>C (p.Leu759=) c.2242T>C (p.Leu748=) c.1277T>C n.1029+3178A>G c.1888T>C (p.Leu630=) c.1531T>C (p.Leu511=) n.2589T>C | |
2 | g.166280425A>T | CA349079576 | SCN1A-AS1,SCN9A | c.2275T>A (p.Leu759Ile) c.2242T>A (p.Leu748Ile) c.1277T>A n.1029+3178A>T c.1888T>A (p.Leu630Ile) c.1531T>A (p.Leu511Ile) n.2589T>A | |
2 | g.166280426T>A | CA429902247 | SCN1A-AS1,SCN9A | c.2274A>T (p.Thr758=) c.2241A>T (p.Thr747=) c.1276A>T n.1029+3179T>A c.1887A>T (p.Thr629=) c.1530A>T (p.Thr510=) n.2588A>T | |
2 | g.166280426T>C | CA429902248 | SCN1A-AS1,SCN9A | c.2274A>G (p.Thr758=) c.2241A>G (p.Thr747=) c.1276A>G n.1029+3179T>C c.1887A>G (p.Thr629=) c.1530A>G (p.Thr510=) n.2588A>G | dbSNP |
2 | g.166280426T>G | CA429902249 | SCN1A-AS1,SCN9A | c.2274A>C (p.Thr758=) c.2241A>C (p.Thr747=) c.1276A>C n.1029+3179T>G c.1887A>C (p.Thr629=) c.1530A>C (p.Thr510=) n.2588A>C | |
2 | g.166280426T= | CA1304965703 | SCN1A-AS1,SCN9A | c.2274A= (p.Thr758=) c.2241A= (p.Thr747=) c.1276A= n.1029+3179T= c.1887A= (p.Thr629=) c.1530A= (p.Thr510=) n.2588A= | |
2 | g.166280427G>A | CA349079577 | SCN1A-AS1,SCN9A | c.2273C>T (p.Thr758Ile) c.2240C>T (p.Thr747Ile) c.1275C>T n.1029+3180G>A c.1886C>T (p.Thr629Ile) c.1529C>T (p.Thr510Ile) n.2587C>T | |
2 | g.166280427G>C | CA349079579 | SCN1A-AS1,SCN9A | c.2273C>G (p.Thr758Arg) c.2240C>G (p.Thr747Arg) c.1275C>G n.1029+3180G>C c.1886C>G (p.Thr629Arg) c.1529C>G (p.Thr510Arg) n.2587C>G | |
2 | g.166280427G>T | CA349079578 | SCN1A-AS1,SCN9A | c.2273C>A (p.Thr758Lys) c.2240C>A (p.Thr747Lys) c.1275C>A n.1029+3180G>T c.1886C>A (p.Thr629Lys) c.1529C>A (p.Thr510Lys) n.2587C>A | gnomAD v4 |
2 | g.166280428T>A | CA349079580 | SCN1A-AS1,SCN9A | c.2272A>T (p.Thr758Ser) c.2239A>T (p.Thr747Ser) c.1274A>T n.1029+3181T>A c.1885A>T (p.Thr629Ser) c.1528A>T (p.Thr510Ser) n.2586A>T | gnomAD v4 |
2 | g.166280428T>C | CA349079581 | SCN1A-AS1,SCN9A | c.2272A>G (p.Thr758Ala) c.2239A>G (p.Thr747Ala) c.1274A>G n.1029+3181T>C c.1885A>G (p.Thr629Ala) c.1528A>G (p.Thr510Ala) n.2586A>G | dbSNP gnomAD v2 |
2 | g.166280428T>G | CA349079582 | SCN1A-AS1,SCN9A | c.2272A>C (p.Thr758Pro) c.2239A>C (p.Thr747Pro) c.1274A>C n.1029+3181T>G c.1885A>C (p.Thr629Pro) c.1528A>C (p.Thr510Pro) n.2586A>C | |
2 | g.166280428T= | CA1304965704 | SCN1A-AS1,SCN9A | c.2272A= (p.Thr758=) c.2239A= (p.Thr747=) c.1274A= n.1029+3181T= c.1885A= (p.Thr629=) c.1528A= (p.Thr510=) n.2586A= | |
2 | g.166280429G>A | CA429902254 | SCN1A-AS1,SCN9A | c.2271C>T (p.Asn757=) c.2238C>T (p.Asn746=) c.1273C>T n.1029+3182G>A c.1884C>T (p.Asn628=) c.1527C>T (p.Asn509=) n.2585C>T | ClinVar dbSNP |
2 | g.166280429G>C | CA349079583 | SCN1A-AS1,SCN9A | c.2271C>G (p.Asn757Lys) c.2238C>G (p.Asn746Lys) c.1273C>G n.1029+3182G>C c.1884C>G (p.Asn628Lys) c.1527C>G (p.Asn509Lys) n.2585C>G | |
2 | g.166280429G>T | CA349079584 | SCN1A-AS1,SCN9A | c.2271C>A (p.Asn757Lys) c.2238C>A (p.Asn746Lys) c.1273C>A n.1029+3182G>T c.1884C>A (p.Asn628Lys) c.1527C>A (p.Asn509Lys) n.2585C>A | gnomAD v4 |
2 | g.166280430T>A | CA349079585 | SCN1A-AS1,SCN9A | c.2270A>T (p.Asn757Ile) c.2237A>T (p.Asn746Ile) c.1272A>T n.1029+3183T>A c.1883A>T (p.Asn628Ile) c.1526A>T (p.Asn509Ile) n.2584A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166280430T>C | CA349079586 | SCN1A-AS1,SCN9A | c.2270A>G (p.Asn757Ser) c.2237A>G (p.Asn746Ser) c.1272A>G n.1029+3183T>C c.1883A>G (p.Asn628Ser) c.1526A>G (p.Asn509Ser) n.2584A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280430T>G | CA349079587 | SCN1A-AS1,SCN9A | c.2270A>C (p.Asn757Thr) c.2237A>C (p.Asn746Thr) c.1272A>C n.1029+3183T>G c.1883A>C (p.Asn628Thr) c.1526A>C (p.Asn509Thr) n.2584A>C | |
2 | g.166280430T= | CA1304965706 | SCN1A-AS1,SCN9A | c.2270A= (p.Asn757=) c.2237A= (p.Asn746=) c.1272A= n.1029+3183T= c.1883A= (p.Asn628=) c.1526A= (p.Asn509=) n.2584A= | |
2 | g.166280431T>A | CA349079588 | SCN1A-AS1,SCN9A | c.2269A>T (p.Asn757Tyr) c.2236A>T (p.Asn746Tyr) c.1271A>T n.1029+3184T>A c.1882A>T (p.Asn628Tyr) c.1525A>T (p.Asn509Tyr) n.2583A>T | |
2 | g.166280431T>C | CA349079589 | SCN1A-AS1,SCN9A | c.2269A>G (p.Asn757Asp) c.2236A>G (p.Asn746Asp) c.1271A>G n.1029+3184T>C c.1882A>G (p.Asn628Asp) c.1525A>G (p.Asn509Asp) n.2583A>G | |
2 | g.166280431T>G | CA349079590 | SCN1A-AS1,SCN9A | c.2269A>C (p.Asn757His) c.2236A>C (p.Asn746His) c.1271A>C n.1029+3184T>G c.1882A>C (p.Asn628His) c.1525A>C (p.Asn509His) n.2583A>C | |
2 | g.166280432T>A | CA349079592 | SCN1A-AS1,SCN9A | c.2268A>T (p.Leu756Phe) c.2235A>T (p.Leu745Phe) c.1270A>T n.1029+3185T>A c.1881A>T (p.Leu627Phe) c.1524A>T (p.Leu508Phe) n.2582A>T | |
2 | g.166280432T>C | CA59796602 | SCN1A-AS1,SCN9A | c.2268A>G (p.Leu756=) c.2235A>G (p.Leu745=) c.1270A>G n.1029+3185T>C c.1881A>G (p.Leu627=) c.1524A>G (p.Leu508=) n.2582A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280432T>G | CA349079591 | SCN1A-AS1,SCN9A | c.2268A>C (p.Leu756Phe) c.2235A>C (p.Leu745Phe) c.1270A>C n.1029+3185T>G c.1881A>C (p.Leu627Phe) c.1524A>C (p.Leu508Phe) n.2582A>C | |
2 | g.166280432T= | CA1304965709 | SCN1A-AS1,SCN9A | c.2268A= (p.Leu756=) c.2235A= (p.Leu745=) c.1270A= n.1029+3185T= c.1881A= (p.Leu627=) c.1524A= (p.Leu508=) n.2582A= | |
2 | g.166280433A>C | CA349079593 | SCN1A-AS1,SCN9A | c.2267T>G (p.Leu756Ter) c.2234T>G (p.Leu745Ter) c.1269T>G n.1029+3186A>C c.1880T>G (p.Leu627Ter) c.1523T>G (p.Leu508Ter) n.2581T>G | |
2 | g.166280433A>G | CA349079594 | SCN1A-AS1,SCN9A | c.2267T>C (p.Leu756Ser) c.2234T>C (p.Leu745Ser) c.1269T>C n.1029+3186A>G c.1880T>C (p.Leu627Ser) c.1523T>C (p.Leu508Ser) n.2581T>C | gnomAD v4 |
2 | g.166280433A>T | CA349079595 | SCN1A-AS1,SCN9A | c.2267T>A (p.Leu756Ter) c.2234T>A (p.Leu745Ter) c.1269T>A n.1029+3186A>T c.1880T>A (p.Leu627Ter) c.1523T>A (p.Leu508Ter) n.2581T>A | |
2 | g.166280434A>C | CA349079596 | SCN1A-AS1,SCN9A | c.2266T>G (p.Leu756Val) c.2233T>G (p.Leu745Val) c.1268T>G n.1029+3187A>C c.1879T>G (p.Leu627Val) c.1522T>G (p.Leu508Val) n.2580T>G | |
2 | g.166280434A>G | CA429902273 | SCN1A-AS1,SCN9A | c.2266T>C (p.Leu756=) c.2233T>C (p.Leu745=) c.1268T>C n.1029+3187A>G c.1879T>C (p.Leu627=) c.1522T>C (p.Leu508=) n.2580T>C | |
2 | g.166280434A>T | CA349079597 | SCN1A-AS1,SCN9A | c.2266T>A (p.Leu756Ile) c.2233T>A (p.Leu745Ile) c.1268T>A n.1029+3187A>T c.1879T>A (p.Leu627Ile) c.1522T>A (p.Leu508Ile) n.2580T>A | |
2 | g.166280435A>C | CA429902275 | SCN1A-AS1,SCN9A | c.2265T>G (p.Val755=) c.2232T>G (p.Val744=) c.1267T>G n.1029+3188A>C c.1878T>G (p.Val626=) c.1521T>G (p.Val507=) n.2579T>G | |
2 | g.166280435A>G | CA429902279 | SCN1A-AS1,SCN9A | c.2265T>C (p.Val755=) c.2232T>C (p.Val744=) c.1267T>C n.1029+3188A>G c.1878T>C (p.Val626=) c.1521T>C (p.Val507=) n.2579T>C | gnomAD v4 |
2 | g.166280435A>T | CA429902282 | SCN1A-AS1,SCN9A | c.2265T>A (p.Val755=) c.2232T>A (p.Val744=) c.1267T>A n.1029+3188A>T c.1878T>A (p.Val626=) c.1521T>A (p.Val507=) n.2579T>A | |
2 | g.166280436A>C | CA349079600 | SCN1A-AS1,SCN9A | c.2264T>G (p.Val755Gly) c.2231T>G (p.Val744Gly) c.1266T>G n.1029+3189A>C c.1877T>G (p.Val626Gly) c.1520T>G (p.Val507Gly) n.2578T>G | |
2 | g.166280436A>G | CA349079599 | SCN1A-AS1,SCN9A | c.2264T>C (p.Val755Ala) c.2231T>C (p.Val744Ala) c.1266T>C n.1029+3189A>G c.1877T>C (p.Val626Ala) c.1520T>C (p.Val507Ala) n.2578T>C | dbSNP gnomAD v4 |
2 | g.166280436A>T | CA349079598 | SCN1A-AS1,SCN9A | c.2264T>A (p.Val755Asp) c.2231T>A (p.Val744Asp) c.1266T>A n.1029+3189A>T c.1877T>A (p.Val626Asp) c.1520T>A (p.Val507Asp) n.2578T>A | |
2 | g.166280437C>A | CA349079601 | SCN1A-AS1,SCN9A | c.2263G>T (p.Val755Phe) c.2230G>T (p.Val744Phe) c.1265G>T n.1029+3190C>A c.1876G>T (p.Val626Phe) c.1519G>T (p.Val507Phe) n.2577G>T | gnomAD v4 |
2 | g.166280437C= | CA1304965711 | SCN1A-AS1,SCN9A | c.2263G= (p.Val755=) c.2230G= (p.Val744=) c.1265G= n.1029+3190C= c.1876G= (p.Val626=) c.1519G= (p.Val507=) n.2577G= | |
2 | g.166280437C>G | CA349079602 | SCN1A-AS1,SCN9A | c.2263G>C (p.Val755Leu) c.2230G>C (p.Val744Leu) c.1265G>C n.1029+3190C>G c.1876G>C (p.Val626Leu) c.1519G>C (p.Val507Leu) n.2577G>C | gnomAD v4 |
2 | g.166280437C>T | CA349079603 | SCN1A-AS1,SCN9A | c.2263G>A (p.Val755Ile) c.2230G>A (p.Val744Ile) c.1265G>A n.1029+3190C>T c.1876G>A (p.Val626Ile) c.1519G>A (p.Val507Ile) n.2577G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280438T>A | CA429902288 | SCN1A-AS1,SCN9A | c.2262A>T (p.Ile754=) c.2229A>T (p.Ile743=) c.1264A>T n.1029+3191T>A c.1875A>T (p.Ile625=) c.1518A>T (p.Ile506=) n.2576A>T | |
2 | g.166280438T>C | CA349079604 | SCN1A-AS1,SCN9A | c.2262A>G (p.Ile754Met) c.2229A>G (p.Ile743Met) c.1264A>G n.1029+3191T>C c.1875A>G (p.Ile625Met) c.1518A>G (p.Ile506Met) n.2576A>G | |
2 | g.166280438T>G | CA429902287 | SCN1A-AS1,SCN9A | c.2262A>C (p.Ile754=) c.2229A>C (p.Ile743=) c.1264A>C n.1029+3191T>G c.1875A>C (p.Ile625=) c.1518A>C (p.Ile506=) n.2576A>C | |
2 | g.166280439A>C | CA349079605 | SCN1A-AS1,SCN9A | c.2261T>G (p.Ile754Arg) c.2228T>G (p.Ile743Arg) c.1263T>G n.1029+3192A>C c.1874T>G (p.Ile625Arg) c.1517T>G (p.Ile506Arg) n.2575T>G | |
2 | g.166280439A>G | CA349079606 | SCN1A-AS1,SCN9A | c.2261T>C (p.Ile754Thr) c.2228T>C (p.Ile743Thr) c.1263T>C n.1029+3192A>G c.1874T>C (p.Ile625Thr) c.1517T>C (p.Ile506Thr) n.2575T>C | |
2 | g.166280439A>T | CA349079607 | SCN1A-AS1,SCN9A | c.2261T>A (p.Ile754Lys) c.2228T>A (p.Ile743Lys) c.1263T>A n.1029+3192A>T c.1874T>A (p.Ile625Lys) c.1517T>A (p.Ile506Lys) n.2575T>A | |
2 | g.166280440T>A | CA349079608 | SCN1A-AS1,SCN9A | c.2260A>T (p.Ile754Leu) c.2227A>T (p.Ile743Leu) c.1262A>T n.1029+3193T>A c.1873A>T (p.Ile625Leu) c.1516A>T (p.Ile506Leu) n.2574A>T | |
2 | g.166280440T>C | CA1944304 | SCN1A-AS1,SCN9A | c.2260A>G (p.Ile754Val) c.2227A>G (p.Ile743Val) c.1262A>G n.1029+3193T>C c.1873A>G (p.Ile625Val) c.1516A>G (p.Ile506Val) n.2574A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166280440T>G | CA349079609 | SCN1A-AS1,SCN9A | c.2260A>C (p.Ile754Leu) c.2227A>C (p.Ile743Leu) c.1262A>C n.1029+3193T>G c.1873A>C (p.Ile625Leu) c.1516A>C (p.Ile506Leu) n.2574A>C | |
2 | g.166280440T= | CA1304965713 | SCN1A-AS1,SCN9A | c.2260A= (p.Ile754=) c.2227A= (p.Ile743=) c.1262A= n.1029+3193T= c.1873A= (p.Ile625=) c.1516A= (p.Ile506=) n.2574A= | |
2 | g.166280441G>A | CA429902296 | SCN1A-AS1,SCN9A | c.2259C>T (p.Cys753=) c.2226C>T (p.Cys742=) c.1261C>T n.1029+3194G>A c.1872C>T (p.Cys624=) c.1515C>T (p.Cys505=) n.2573C>T | gnomAD v4 |
2 | g.166280441G>C | CA349079610 | SCN1A-AS1,SCN9A | c.2259C>G (p.Cys753Trp) c.2226C>G (p.Cys742Trp) c.1261C>G n.1029+3194G>C c.1872C>G (p.Cys624Trp) c.1515C>G (p.Cys505Trp) n.2573C>G | |
2 | g.166280441G= | CA1304965714 | SCN1A-AS1,SCN9A | c.2259C= (p.Cys753=) c.2226C= (p.Cys742=) c.1261C= n.1029+3194G= c.1872C= (p.Cys624=) c.1515C= (p.Cys505=) n.2573C= | |
2 | g.166280441G>T | CA349079611 | SCN1A-AS1,SCN9A | c.2259C>A (p.Cys753Ter) c.2226C>A (p.Cys742Ter) c.1261C>A n.1029+3194G>T c.1872C>A (p.Cys624Ter) c.1515C>A (p.Cys505Ter) n.2573C>A | dbSNP |
2 | g.166280442C>A | CA1944305 | SCN1A-AS1,SCN9A | c.2258G>T (p.Cys753Phe) c.2225G>T (p.Cys742Phe) c.1260G>T n.1029+3195C>A c.1871G>T (p.Cys624Phe) c.1514G>T (p.Cys505Phe) n.2572G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280442C= | CA1304965716 | SCN1A-AS1,SCN9A | c.2258G= (p.Cys753=) c.2225G= (p.Cys742=) c.1260G= n.1029+3195C= c.1871G= (p.Cys624=) c.1514G= (p.Cys505=) n.2572G= | |
2 | g.166280442C>G | CA349079612 | SCN1A-AS1,SCN9A | c.2258G>C (p.Cys753Ser) c.2225G>C (p.Cys742Ser) c.1260G>C n.1029+3195C>G c.1871G>C (p.Cys624Ser) c.1514G>C (p.Cys505Ser) n.2572G>C | |
2 | g.166280442C>T | CA349079613 | SCN1A-AS1,SCN9A | c.2258G>A (p.Cys753Tyr) c.2225G>A (p.Cys742Tyr) c.1260G>A n.1029+3195C>T c.1871G>A (p.Cys624Tyr) c.1514G>A (p.Cys505Tyr) n.2572G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166280443A>C | CA349079614 | SCN1A-AS1,SCN9A | c.2257T>G (p.Cys753Gly) c.2224T>G (p.Cys742Gly) c.1259T>G n.1029+3196A>C c.1870T>G (p.Cys624Gly) c.1513T>G (p.Cys505Gly) n.2571T>G | |
2 | g.166280443A>G | CA349079615 | SCN1A-AS1,SCN9A | c.2257T>C (p.Cys753Arg) c.2224T>C (p.Cys742Arg) c.1259T>C n.1029+3196A>G c.1870T>C (p.Cys624Arg) c.1513T>C (p.Cys505Arg) n.2571T>C | |
2 | g.166280443A>T | CA349079616 | SCN1A-AS1,SCN9A | c.2257T>A (p.Cys753Ser) c.2224T>A (p.Cys742Ser) c.1259T>A n.1029+3196A>T c.1870T>A (p.Cys624Ser) c.1513T>A (p.Cys505Ser) n.2571T>A | |
2 | g.166280444A>C | CA349079617 | SCN1A-AS1,SCN9A | c.2256T>G (p.Ile752Met) c.2223T>G (p.Ile741Met) c.1258T>G n.1029+3197A>C c.1869T>G (p.Ile623Met) c.1512T>G (p.Ile504Met) n.2570T>G | |
2 | g.166280444A>G | CA429902305 | SCN1A-AS1,SCN9A | c.2256T>C (p.Ile752=) c.2223T>C (p.Ile741=) c.1258T>C n.1029+3197A>G c.1869T>C (p.Ile623=) c.1512T>C (p.Ile504=) n.2570T>C | |
2 | g.166280444A>T | CA429902308 | SCN1A-AS1,SCN9A | c.2256T>A (p.Ile752=) c.2223T>A (p.Ile741=) c.1258T>A n.1029+3197A>T c.1869T>A (p.Ile623=) c.1512T>A (p.Ile504=) n.2570T>A | |
2 | g.166280445A= | CA1304965718 | SCN1A-AS1,SCN9A | c.2255T= (p.Ile752=) c.2222T= (p.Ile741=) c.1257T= n.1029+3198A= c.1868T= (p.Ile623=) c.1511T= (p.Ile504=) n.2569T= | |
2 | g.166280445A>C | CA349079618 | SCN1A-AS1,SCN9A | c.2255T>G (p.Ile752Ser) c.2222T>G (p.Ile741Ser) c.1257T>G n.1029+3198A>C c.1868T>G (p.Ile623Ser) c.1511T>G (p.Ile504Ser) n.2569T>G | |
2 | g.166280445A>G | CA349079619 | SCN1A-AS1,SCN9A | c.2255T>C (p.Ile752Thr) c.2222T>C (p.Ile741Thr) c.1257T>C n.1029+3198A>G c.1868T>C (p.Ile623Thr) c.1511T>C (p.Ile504Thr) n.2569T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280445A>T | CA349079620 | SCN1A-AS1,SCN9A | c.2255T>A (p.Ile752Asn) c.2222T>A (p.Ile741Asn) c.1257T>A n.1029+3198A>T c.1868T>A (p.Ile623Asn) c.1511T>A (p.Ile504Asn) n.2569T>A | gnomAD v4 |
2 | g.166280446T>A | CA349079621 | SCN1A-AS1,SCN9A | c.2254A>T (p.Ile752Phe) c.2221A>T (p.Ile741Phe) c.1256A>T n.1029+3199T>A c.1867A>T (p.Ile623Phe) c.1510A>T (p.Ile504Phe) n.2568A>T | dbSNP |
2 | g.166280446T>C | CA349079623 | SCN1A-AS1,SCN9A | c.2254A>G (p.Ile752Val) c.2221A>G (p.Ile741Val) c.1256A>G n.1029+3199T>C c.1867A>G (p.Ile623Val) c.1510A>G (p.Ile504Val) n.2568A>G | |
2 | g.166280446T>G | CA349079622 | SCN1A-AS1,SCN9A | c.2254A>C (p.Ile752Leu) c.2221A>C (p.Ile741Leu) c.1256A>C n.1029+3199T>G c.1867A>C (p.Ile623Leu) c.1510A>C (p.Ile504Leu) n.2568A>C | |
2 | g.166280446T= | CA1304965720 | SCN1A-AS1,SCN9A | c.2254A= (p.Ile752=) c.2221A= (p.Ile741=) c.1256A= n.1029+3199T= c.1867A= (p.Ile623=) c.1510A= (p.Ile504=) n.2568A= | |
2 | g.166280447G>A | CA59796617 | SCN1A-AS1,SCN9A | c.2253C>T (p.Thr751=) c.2220C>T (p.Thr740=) c.1255C>T n.1029+3200G>A c.1866C>T (p.Thr622=) c.1509C>T (p.Thr503=) n.2567C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280447G>C | CA429902317 | SCN1A-AS1,SCN9A | c.2253C>G (p.Thr751=) c.2220C>G (p.Thr740=) c.1255C>G n.1029+3200G>C c.1866C>G (p.Thr622=) c.1509C>G (p.Thr503=) n.2567C>G | |
2 | g.166280447G= | CA1304965724 | SCN1A-AS1,SCN9A | c.2253C= (p.Thr751=) c.2220C= (p.Thr740=) c.1255C= n.1029+3200G= c.1866C= (p.Thr622=) c.1509C= (p.Thr503=) n.2567C= | |
2 | g.166280447G>T | CA429902318 | SCN1A-AS1,SCN9A | c.2253C>A (p.Thr751=) c.2220C>A (p.Thr740=) c.1255C>A n.1029+3200G>T c.1866C>A (p.Thr622=) c.1509C>A (p.Thr503=) n.2567C>A | gnomAD v4 |
2 | g.166280448G>A | CA349079624 | SCN1A-AS1,SCN9A | c.2252C>T (p.Thr751Ile) c.2219C>T (p.Thr740Ile) c.1254C>T n.1029+3201G>A c.1865C>T (p.Thr622Ile) c.1508C>T (p.Thr503Ile) n.2566C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166280448G>C | CA349079625 | SCN1A-AS1,SCN9A | c.2252C>G (p.Thr751Ser) c.2219C>G (p.Thr740Ser) c.1254C>G n.1029+3201G>C c.1865C>G (p.Thr622Ser) c.1508C>G (p.Thr503Ser) n.2566C>G | |
2 | g.166280448G= | CA1304965725 | SCN1A-AS1,SCN9A | c.2252C= (p.Thr751=) c.2219C= (p.Thr740=) c.1254C= n.1029+3201G= c.1865C= (p.Thr622=) c.1508C= (p.Thr503=) n.2566C= | |
2 | g.166280448G>T | CA349079626 | SCN1A-AS1,SCN9A | c.2252C>A (p.Thr751Asn) c.2219C>A (p.Thr740Asn) c.1254C>A n.1029+3201G>T c.1865C>A (p.Thr622Asn) c.1508C>A (p.Thr503Asn) n.2566C>A | |
2 | g.166280449T>A | CA349079627 | SCN1A-AS1,SCN9A | c.2251A>T (p.Thr751Ser) c.2218A>T (p.Thr740Ser) c.1253A>T n.1029+3202T>A c.1864A>T (p.Thr622Ser) c.1507A>T (p.Thr503Ser) n.2565A>T | |
2 | g.166280449T>C | CA349079628 | SCN1A-AS1,SCN9A | c.2251A>G (p.Thr751Ala) c.2218A>G (p.Thr740Ala) c.1253A>G n.1029+3202T>C c.1864A>G (p.Thr622Ala) c.1507A>G (p.Thr503Ala) n.2565A>G | |
2 | g.166280449T>G | CA349079629 | SCN1A-AS1,SCN9A | c.2251A>C (p.Thr751Pro) c.2218A>C (p.Thr740Pro) c.1253A>C n.1029+3202T>G c.1864A>C (p.Thr622Pro) c.1507A>C (p.Thr503Pro) n.2565A>C | |
2 | g.166280450A>C | CA349079630 | SCN1A-AS1,SCN9A | c.2250T>G (p.Ile750Met) c.2217T>G (p.Ile739Met) c.1252T>G n.1029+3203A>C c.1863T>G (p.Ile621Met) c.1506T>G (p.Ile502Met) n.2564T>G | |
2 | g.166280450A>G | CA429902328 | SCN1A-AS1,SCN9A | c.2250T>C (p.Ile750=) c.2217T>C (p.Ile739=) c.1252T>C n.1029+3203A>G c.1863T>C (p.Ile621=) c.1506T>C (p.Ile502=) n.2564T>C | |
2 | g.166280450A>T | CA429902329 | SCN1A-AS1,SCN9A | c.2250T>A (p.Ile750=) c.2217T>A (p.Ile739=) c.1252T>A n.1029+3203A>T c.1863T>A (p.Ile621=) c.1506T>A (p.Ile502=) n.2564T>A | |
2 | g.166280451A>C | CA349079631 | SCN1A-AS1,SCN9A | c.2249T>G (p.Ile750Ser) c.2216T>G (p.Ile739Ser) c.1251T>G n.1029+3204A>C c.1862T>G (p.Ile621Ser) c.1505T>G (p.Ile502Ser) n.2563T>G | |
2 | g.166280451A>G | CA349079632 | SCN1A-AS1,SCN9A | c.2249T>C (p.Ile750Thr) c.2216T>C (p.Ile739Thr) c.1251T>C n.1029+3204A>G c.1862T>C (p.Ile621Thr) c.1505T>C (p.Ile502Thr) n.2563T>C | |
2 | g.166280451A>T | CA349079633 | SCN1A-AS1,SCN9A | c.2249T>A (p.Ile750Asn) c.2216T>A (p.Ile739Asn) c.1251T>A n.1029+3204A>T c.1862T>A (p.Ile621Asn) c.1505T>A (p.Ile502Asn) n.2563T>A | |
2 | g.166280452T>A | CA349079634 | SCN1A-AS1,SCN9A | c.2248A>T (p.Ile750Phe) c.2215A>T (p.Ile739Phe) c.1250A>T n.1029+3205T>A c.1861A>T (p.Ile621Phe) c.1504A>T (p.Ile502Phe) n.2562A>T | |
2 | g.166280452T>C | CA171007 | SCN1A-AS1,SCN9A | c.2248A>G (p.Ile750Val) c.2215A>G (p.Ile739Val) c.1250A>G n.1029+3205T>C c.1861A>G (p.Ile621Val) c.1504A>G (p.Ile502Val) n.2562A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166280452T>G | CA349079635 | SCN1A-AS1,SCN9A | c.2248A>C (p.Ile750Leu) c.2215A>C (p.Ile739Leu) c.1250A>C n.1029+3205T>G c.1861A>C (p.Ile621Leu) c.1504A>C (p.Ile502Leu) n.2562A>C | |
2 | g.166280452T= | CA1304965726 | SCN1A-AS1,SCN9A | c.2248A= (p.Ile750=) c.2215A= (p.Ile739=) c.1250A= n.1029+3205T= c.1861A= (p.Ile621=) c.1504A= (p.Ile502=) n.2562A= | |
2 | g.166280453T>A | CA429902331 | SCN1A-AS1,SCN9A | c.2247A>T (p.Ala749=) c.2214A>T (p.Ala738=) c.1249A>T n.1029+3206T>A c.1860A>T (p.Ala620=) c.1503A>T (p.Ala501=) n.2561A>T | gnomAD v4 |
2 | g.166280453T>C | CA429902333 | SCN1A-AS1,SCN9A | c.2247A>G (p.Ala749=) c.2214A>G (p.Ala738=) c.1249A>G n.1029+3206T>C c.1860A>G (p.Ala620=) c.1503A>G (p.Ala501=) n.2561A>G | |
2 | g.166280453T>G | CA429902336 | SCN1A-AS1,SCN9A | c.2247A>C (p.Ala749=) c.2214A>C (p.Ala738=) c.1249A>C n.1029+3206T>G c.1860A>C (p.Ala620=) c.1503A>C (p.Ala501=) n.2561A>C | ClinVar |
2 | g.166280454G>A | CA349079636 | SCN1A-AS1,SCN9A | c.2246C>T (p.Ala749Val) c.2213C>T (p.Ala738Val) c.1248C>T n.1029+3207G>A c.1859C>T (p.Ala620Val) c.1502C>T (p.Ala501Val) n.2560C>T | ClinVar dbSNP gnomAD v4 |
2 | g.166280454G>C | CA349079637 | SCN1A-AS1,SCN9A | c.2246C>G (p.Ala749Gly) c.2213C>G (p.Ala738Gly) c.1248C>G n.1029+3207G>C c.1859C>G (p.Ala620Gly) c.1502C>G (p.Ala501Gly) n.2560C>G | |
2 | g.166280454G= | CA1304965727 | SCN1A-AS1,SCN9A | c.2246C= (p.Ala749=) c.2213C= (p.Ala738=) c.1248C= n.1029+3207G= c.1859C= (p.Ala620=) c.1502C= (p.Ala501=) n.2560C= | |
2 | g.166280454G>T | CA59796624 | SCN1A-AS1,SCN9A | c.2246C>A (p.Ala749Glu) c.2213C>A (p.Ala738Glu) c.1248C>A n.1029+3207G>T c.1859C>A (p.Ala620Glu) c.1502C>A (p.Ala501Glu) n.2560C>A | dbSNP |
2 | g.166280455C>A | CA349079638 | SCN1A-AS1,SCN9A | c.2245G>T (p.Ala749Ser) c.2212G>T (p.Ala738Ser) c.1247G>T n.1029+3208C>A c.1858G>T (p.Ala620Ser) c.1501G>T (p.Ala501Ser) n.2559G>T | gnomAD v4 |
2 | g.166280455C>G | CA349079639 | SCN1A-AS1,SCN9A | c.2245G>C (p.Ala749Pro) c.2212G>C (p.Ala738Pro) c.1247G>C n.1029+3208C>G c.1858G>C (p.Ala620Pro) c.1501G>C (p.Ala501Pro) n.2559G>C | |
2 | g.166280455C>T | CA349079640 | SCN1A-AS1,SCN9A | c.2245G>A (p.Ala749Thr) c.2212G>A (p.Ala738Thr) c.1247G>A n.1029+3208C>T c.1858G>A (p.Ala620Thr) c.1501G>A (p.Ala501Thr) n.2559G>A | gnomAD v4 |