UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165097390C>A | CA349025585 | SCN3A | c.4050G>T (p.Met1350Ile) c.4101G>T (p.Met1367Ile) c.*1942G>T (n.*1942G>T) c.*835G>T (n.*835G>T) c.2310G>T (n.2310G>T) c.3954G>T (p.Met1318Ile) n.225G>T c.2211G>T (p.Met737Ile) c.3963G>T (p.Met1321Ile) | |
| 2 | g.165097390C= | CA1304438453 | SCN3A | c.4050G= (p.Met1350=) c.4101G= (p.Met1367=) c.*1942G= (n.*1942G=) c.*835G= (n.*835G=) c.2310G= (n.2310G=) c.3954G= (p.Met1318=) n.225G= c.2211G= (p.Met737=) c.3963G= (p.Met1321=) | |
| 2 | g.165097390C>G | CA349025586 | SCN3A | c.4050G>C (p.Met1350Ile) c.4101G>C (p.Met1367Ile) c.*1942G>C (n.*1942G>C) c.*835G>C (n.*835G>C) c.2310G>C (n.2310G>C) c.3954G>C (p.Met1318Ile) n.225G>C c.2211G>C (p.Met737Ile) c.3963G>C (p.Met1321Ile) | |
| 2 | g.165097390C>T | CA1938649 | SCN3A | c.4050G>A (p.Met1350Ile) c.4101G>A (p.Met1367Ile) c.*1942G>A (n.*1942G>A) c.*835G>A (n.*835G>A) c.2310G>A (n.2310G>A) c.3954G>A (p.Met1318Ile) n.225G>A c.2211G>A (p.Met737Ile) c.3963G>A (p.Met1321Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165097391A= | CA1304438454 | SCN3A | c.4049T= (p.Met1350=) c.4100T= (p.Met1367=) c.*1941T= (n.*1941T=) c.*834T= (n.*834T=) c.2309T= (n.2309T=) c.3953T= (p.Met1318=) n.224T= c.2210T= (p.Met737=) c.3962T= (p.Met1321=) | |
| 2 | g.165097391A>C | CA349025587 | SCN3A | c.4049T>G (p.Met1350Arg) c.4100T>G (p.Met1367Arg) c.*1941T>G (n.*1941T>G) c.*834T>G (n.*834T>G) c.2309T>G (n.2309T>G) c.3953T>G (p.Met1318Arg) n.224T>G c.2210T>G (p.Met737Arg) c.3962T>G (p.Met1321Arg) | gnomAD v4 |
| 2 | g.165097391A>G | CA59712771 | SCN3A | c.4049T>C (p.Met1350Thr) c.4100T>C (p.Met1367Thr) c.*1941T>C (n.*1941T>C) c.*834T>C (n.*834T>C) c.2309T>C (n.2309T>C) c.3953T>C (p.Met1318Thr) n.224T>C c.2210T>C (p.Met737Thr) c.3962T>C (p.Met1321Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097391A>T | CA349025588 | SCN3A | c.4049T>A (p.Met1350Lys) c.4100T>A (p.Met1367Lys) c.*1941T>A (n.*1941T>A) c.*834T>A (n.*834T>A) c.2309T>A (n.2309T>A) c.3953T>A (p.Met1318Lys) n.224T>A c.2210T>A (p.Met737Lys) c.3962T>A (p.Met1321Lys) | |
| 2 | g.165097392T>A | CA349025589 | SCN3A | c.4048A>T (p.Met1350Leu) c.4099A>T (p.Met1367Leu) c.*1940A>T (n.*1940A>T) c.*833A>T (n.*833A>T) c.2308A>T (n.2308A>T) c.3952A>T (p.Met1318Leu) n.223A>T c.2209A>T (p.Met737Leu) c.3961A>T (p.Met1321Leu) | |
| 2 | g.165097392T>C | CA349025591 | SCN3A | c.4048A>G (p.Met1350Val) c.4099A>G (p.Met1367Val) c.*1940A>G (n.*1940A>G) c.*833A>G (n.*833A>G) c.2308A>G (n.2308A>G) c.3952A>G (p.Met1318Val) n.223A>G c.2209A>G (p.Met737Val) c.3961A>G (p.Met1321Val) | |
| 2 | g.165097392T>G | CA349025590 | SCN3A | c.4048A>C (p.Met1350Leu) c.4099A>C (p.Met1367Leu) c.*1940A>C (n.*1940A>C) c.*833A>C (n.*833A>C) c.2308A>C (n.2308A>C) c.3952A>C (p.Met1318Leu) n.223A>C c.2209A>C (p.Met737Leu) c.3961A>C (p.Met1321Leu) | |
| 2 | g.165097393G>A | CA429880860 | SCN3A | c.4047C>T (p.Asn1349=) c.4098C>T (p.Asn1366=) c.*1939C>T (n.*1939C>T) c.*832C>T (n.*832C>T) c.2307C>T (n.2307C>T) c.3951C>T (p.Asn1317=) n.222C>T c.2208C>T (p.Asn736=) c.3960C>T (p.Asn1320=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165097393G>C | CA349025592 | SCN3A | c.4047C>G (p.Asn1349Lys) c.4098C>G (p.Asn1366Lys) c.*1939C>G (n.*1939C>G) c.*832C>G (n.*832C>G) c.2307C>G (n.2307C>G) c.3951C>G (p.Asn1317Lys) n.222C>G c.2208C>G (p.Asn736Lys) c.3960C>G (p.Asn1320Lys) | |
| 2 | g.165097393G>T | CA349025593 | SCN3A | c.4047C>A (p.Asn1349Lys) c.4098C>A (p.Asn1366Lys) c.*1939C>A (n.*1939C>A) c.*832C>A (n.*832C>A) c.2307C>A (n.2307C>A) c.3951C>A (p.Asn1317Lys) n.222C>A c.2208C>A (p.Asn736Lys) c.3960C>A (p.Asn1320Lys) | COSMIC COSMIC |
| 2 | g.165097394T>A | CA349025594 | SCN3A | c.4046A>T (p.Asn1349Ile) c.4097A>T (p.Asn1366Ile) c.*1938A>T (n.*1938A>T) c.*831A>T (n.*831A>T) c.2306A>T (n.2306A>T) c.3950A>T (p.Asn1317Ile) n.221A>T c.2207A>T (p.Asn736Ile) c.3959A>T (p.Asn1320Ile) | |
| 2 | g.165097394T>C | CA349025595 | SCN3A | c.4046A>G (p.Asn1349Ser) c.4097A>G (p.Asn1366Ser) c.*1938A>G (n.*1938A>G) c.*831A>G (n.*831A>G) c.2306A>G (n.2306A>G) c.3950A>G (p.Asn1317Ser) n.221A>G c.2207A>G (p.Asn736Ser) c.3959A>G (p.Asn1320Ser) | |
| 2 | g.165097394T>G | CA349025596 | SCN3A | c.4046A>C (p.Asn1349Thr) c.4097A>C (p.Asn1366Thr) c.*1938A>C (n.*1938A>C) c.*831A>C (n.*831A>C) c.2306A>C (n.2306A>C) c.3950A>C (p.Asn1317Thr) n.221A>C c.2207A>C (p.Asn736Thr) c.3959A>C (p.Asn1320Thr) | |
| 2 | g.165097395T>A | CA349025597 | SCN3A | c.4045A>T (p.Asn1349Tyr) c.4096A>T (p.Asn1366Tyr) c.*1937A>T (n.*1937A>T) c.*830A>T (n.*830A>T) c.2305A>T (n.2305A>T) c.3949A>T (p.Asn1317Tyr) n.220A>T c.2206A>T (p.Asn736Tyr) c.3958A>T (p.Asn1320Tyr) | |
| 2 | g.165097395T>C | CA349025598 | SCN3A | c.4045A>G (p.Asn1349Asp) c.4096A>G (p.Asn1366Asp) c.*1937A>G (n.*1937A>G) c.*830A>G (n.*830A>G) c.2305A>G (n.2305A>G) c.3949A>G (p.Asn1317Asp) n.220A>G c.2206A>G (p.Asn736Asp) c.3958A>G (p.Asn1320Asp) | dbSNP gnomAD v4 |
| 2 | g.165097395T>G | CA349025599 | SCN3A | c.4045A>C (p.Asn1349His) c.4096A>C (p.Asn1366His) c.*1937A>C (n.*1937A>C) c.*830A>C (n.*830A>C) c.2305A>C (n.2305A>C) c.3949A>C (p.Asn1317His) n.220A>C c.2206A>C (p.Asn736His) c.3958A>C (p.Asn1320His) | |
| 2 | g.165097395T= | CA1304438455 | SCN3A | c.4045A= (p.Asn1349=) c.4096A= (p.Asn1366=) c.*1937A= (n.*1937A=) c.*830A= (n.*830A=) c.2305A= (n.2305A=) c.3949A= (p.Asn1317=) n.220A= c.2206A= (p.Asn736=) c.3958A= (p.Asn1320=) | |
| 2 | g.165097396A>C | CA429880861 | SCN3A | c.4044T>G (p.Val1348=) c.4095T>G (p.Val1365=) c.*1936T>G (n.*1936T>G) c.*829T>G (n.*829T>G) c.2304T>G (n.2304T>G) c.3948T>G (p.Val1316=) n.219T>G c.2205T>G (p.Val735=) c.3957T>G (p.Val1319=) | |
| 2 | g.165097396A>G | CA429880862 | SCN3A | c.4044T>C (p.Val1348=) c.4095T>C (p.Val1365=) c.*1936T>C (n.*1936T>C) c.*829T>C (n.*829T>C) c.2304T>C (n.2304T>C) c.3948T>C (p.Val1316=) n.219T>C c.2205T>C (p.Val735=) c.3957T>C (p.Val1319=) | |
| 2 | g.165097396A>T | CA429880863 | SCN3A | c.4044T>A (p.Val1348=) c.4095T>A (p.Val1365=) c.*1936T>A (n.*1936T>A) c.*829T>A (n.*829T>A) c.2304T>A (n.2304T>A) c.3948T>A (p.Val1316=) n.219T>A c.2205T>A (p.Val735=) c.3957T>A (p.Val1319=) | |
| 2 | g.165097397A>C | CA349025600 | SCN3A | c.4043T>G (p.Val1348Gly) c.4094T>G (p.Val1365Gly) c.*1935T>G (n.*1935T>G) c.*828T>G (n.*828T>G) c.2303T>G (n.2303T>G) c.3947T>G (p.Val1316Gly) n.218T>G c.2204T>G (p.Val735Gly) c.3956T>G (p.Val1319Gly) | |
| 2 | g.165097397A>G | CA349025601 | SCN3A | c.4043T>C (p.Val1348Ala) c.4094T>C (p.Val1365Ala) c.*1935T>C (n.*1935T>C) c.*828T>C (n.*828T>C) c.2303T>C (n.2303T>C) c.3947T>C (p.Val1316Ala) n.218T>C c.2204T>C (p.Val735Ala) c.3956T>C (p.Val1319Ala) | |
| 2 | g.165097397A>T | CA349025602 | SCN3A | c.4043T>A (p.Val1348Asp) c.4094T>A (p.Val1365Asp) c.*1935T>A (n.*1935T>A) c.*828T>A (n.*828T>A) c.2303T>A (n.2303T>A) c.3947T>A (p.Val1316Asp) n.218T>A c.2204T>A (p.Val735Asp) c.3956T>A (p.Val1319Asp) | |
| 2 | g.165097398C>A | CA349025605 | SCN3A | c.4042G>T (p.Val1348Phe) c.4093G>T (p.Val1365Phe) c.*1934G>T (n.*1934G>T) c.*827G>T (n.*827G>T) c.2302G>T (n.2302G>T) c.3946G>T (p.Val1316Phe) n.217G>T c.2203G>T (p.Val735Phe) c.3955G>T (p.Val1319Phe) | |
| 2 | g.165097398C>G | CA349025604 | SCN3A | c.4042G>C (p.Val1348Leu) c.4093G>C (p.Val1365Leu) c.*1934G>C (n.*1934G>C) c.*827G>C (n.*827G>C) c.2302G>C (n.2302G>C) c.3946G>C (p.Val1316Leu) n.217G>C c.2203G>C (p.Val735Leu) c.3955G>C (p.Val1319Leu) | |
| 2 | g.165097398C>T | CA349025603 | SCN3A | c.4042G>A (p.Val1348Ile) c.4093G>A (p.Val1365Ile) c.*1934G>A (n.*1934G>A) c.*827G>A (n.*827G>A) c.2302G>A (n.2302G>A) c.3946G>A (p.Val1316Ile) n.217G>A c.2203G>A (p.Val735Ile) c.3955G>A (p.Val1319Ile) | |
| 2 | g.165097399A= | CA1304438456 | SCN3A | c.4041T= (p.Cys1347=) c.4092T= (p.Cys1364=) c.*1933T= (n.*1933T=) c.*826T= (n.*826T=) c.2301T= (n.2301T=) c.3945T= (p.Cys1315=) n.216T= c.2202T= (p.Cys734=) c.3954T= (p.Cys1318=) | |
| 2 | g.165097399A>C | CA349025606 | SCN3A | c.4041T>G (p.Cys1347Trp) c.4092T>G (p.Cys1364Trp) c.*1933T>G (n.*1933T>G) c.*826T>G (n.*826T>G) c.2301T>G (n.2301T>G) c.3945T>G (p.Cys1315Trp) n.216T>G c.2202T>G (p.Cys734Trp) c.3954T>G (p.Cys1318Trp) | |
| 2 | g.165097399A>G | CA429880864 | SCN3A | c.4041T>C (p.Cys1347=) c.4092T>C (p.Cys1364=) c.*1933T>C (n.*1933T>C) c.*826T>C (n.*826T>C) c.2301T>C (n.2301T>C) c.3945T>C (p.Cys1315=) n.216T>C c.2202T>C (p.Cys734=) c.3954T>C (p.Cys1318=) | |
| 2 | g.165097399A>T | CA349025607 | SCN3A | c.4041T>A (p.Cys1347Ter) c.4092T>A (p.Cys1364Ter) c.*1933T>A (n.*1933T>A) c.*826T>A (n.*826T>A) c.2301T>A (n.2301T>A) c.3945T>A (p.Cys1315Ter) n.216T>A c.2202T>A (p.Cys734Ter) c.3954T>A (p.Cys1318Ter) | dbSNP |
| 2 | g.165097400C>A | CA349025608 | SCN3A | c.4040G>T (p.Cys1347Phe) c.4091G>T (p.Cys1364Phe) c.*1932G>T (n.*1932G>T) c.*825G>T (n.*825G>T) c.2300G>T (n.2300G>T) c.3944G>T (p.Cys1315Phe) n.215G>T c.2201G>T (p.Cys734Phe) c.3953G>T (p.Cys1318Phe) | |
| 2 | g.165097400C>G | CA349025609 | SCN3A | c.4040G>C (p.Cys1347Ser) c.4091G>C (p.Cys1364Ser) c.*1932G>C (n.*1932G>C) c.*825G>C (n.*825G>C) c.2300G>C (n.2300G>C) c.3944G>C (p.Cys1315Ser) n.215G>C c.2201G>C (p.Cys734Ser) c.3953G>C (p.Cys1318Ser) | |
| 2 | g.165097400C>T | CA349025610 | SCN3A | c.4040G>A (p.Cys1347Tyr) c.4091G>A (p.Cys1364Tyr) c.*1932G>A (n.*1932G>A) c.*825G>A (n.*825G>A) c.2300G>A (n.2300G>A) c.3944G>A (p.Cys1315Tyr) n.215G>A c.2201G>A (p.Cys734Tyr) c.3953G>A (p.Cys1318Tyr) | |
| 2 | g.165097401A>C | CA349025611 | SCN3A | c.4039T>G (p.Cys1347Gly) c.4090T>G (p.Cys1364Gly) c.*1931T>G (n.*1931T>G) c.*824T>G (n.*824T>G) c.2299T>G (n.2299T>G) c.3943T>G (p.Cys1315Gly) n.214T>G c.2200T>G (p.Cys734Gly) c.3952T>G (p.Cys1318Gly) | |
| 2 | g.165097401A>G | CA349025612 | SCN3A | c.4039T>C (p.Cys1347Arg) c.4090T>C (p.Cys1364Arg) c.*1931T>C (n.*1931T>C) c.*824T>C (n.*824T>C) c.2299T>C (n.2299T>C) c.3943T>C (p.Cys1315Arg) n.214T>C c.2200T>C (p.Cys734Arg) c.3952T>C (p.Cys1318Arg) | |
| 2 | g.165097401A>T | CA349025613 | SCN3A | c.4039T>A (p.Cys1347Ser) c.4090T>A (p.Cys1364Ser) c.*1931T>A (n.*1931T>A) c.*824T>A (n.*824T>A) c.2299T>A (n.2299T>A) c.3943T>A (p.Cys1315Ser) n.214T>A c.2200T>A (p.Cys734Ser) c.3952T>A (p.Cys1318Ser) | |
| 2 | g.165097402G>A | CA429880865 | SCN3A | c.4038C>T (p.His1346=) c.4089C>T (p.His1363=) c.*1930C>T (n.*1930C>T) c.*823C>T (n.*823C>T) c.2298C>T (n.2298C>T) c.3942C>T (p.His1314=) n.213C>T c.2199C>T (p.His733=) c.3951C>T (p.His1317=) | COSMIC COSMIC |
| 2 | g.165097402G>C | CA349025614 | SCN3A | c.4038C>G (p.His1346Gln) c.4089C>G (p.His1363Gln) c.*1930C>G (n.*1930C>G) c.*823C>G (n.*823C>G) c.2298C>G (n.2298C>G) c.3942C>G (p.His1314Gln) n.213C>G c.2199C>G (p.His733Gln) c.3951C>G (p.His1317Gln) | |
| 2 | g.165097402G>T | CA349025615 | SCN3A | c.4038C>A (p.His1346Gln) c.4089C>A (p.His1363Gln) c.*1930C>A (n.*1930C>A) c.*823C>A (n.*823C>A) c.2298C>A (n.2298C>A) c.3942C>A (p.His1314Gln) n.213C>A c.2199C>A (p.His733Gln) c.3951C>A (p.His1317Gln) | |
| 2 | g.165097403T>A | CA349025616 | SCN3A | c.4037A>T (p.His1346Leu) c.4088A>T (p.His1363Leu) c.*1929A>T (n.*1929A>T) c.*822A>T (n.*822A>T) c.2297A>T (n.2297A>T) c.3941A>T (p.His1314Leu) n.212A>T c.2198A>T (p.His733Leu) c.3950A>T (p.His1317Leu) | |
| 2 | g.165097403T>C | CA349025617 | SCN3A | c.4037A>G (p.His1346Arg) c.4088A>G (p.His1363Arg) c.*1929A>G (n.*1929A>G) c.*822A>G (n.*822A>G) c.2297A>G (n.2297A>G) c.3941A>G (p.His1314Arg) n.212A>G c.2198A>G (p.His733Arg) c.3950A>G (p.His1317Arg) | |
| 2 | g.165097403T>G | CA349025618 | SCN3A | c.4037A>C (p.His1346Pro) c.4088A>C (p.His1363Pro) c.*1929A>C (n.*1929A>C) c.*822A>C (n.*822A>C) c.2297A>C (n.2297A>C) c.3941A>C (p.His1314Pro) n.212A>C c.2198A>C (p.His733Pro) c.3950A>C (p.His1317Pro) | |
| 2 | g.165097404G>A | CA349025621 | SCN3A | c.4036C>T (p.His1346Tyr) c.4087C>T (p.His1363Tyr) c.*1928C>T (n.*1928C>T) c.*821C>T (n.*821C>T) c.2296C>T (n.2296C>T) c.3940C>T (p.His1314Tyr) n.211C>T c.2197C>T (p.His733Tyr) c.3949C>T (p.His1317Tyr) | |
| 2 | g.165097404G>C | CA349025619 | SCN3A | c.4036C>G (p.His1346Asp) c.4087C>G (p.His1363Asp) c.*1928C>G (n.*1928C>G) c.*821C>G (n.*821C>G) c.2296C>G (n.2296C>G) c.3940C>G (p.His1314Asp) n.211C>G c.2197C>G (p.His733Asp) c.3949C>G (p.His1317Asp) | |
| 2 | g.165097404G>T | CA349025620 | SCN3A | c.4036C>A (p.His1346Asn) c.4087C>A (p.His1363Asn) c.*1928C>A (n.*1928C>A) c.*821C>A (n.*821C>A) c.2296C>A (n.2296C>A) c.3940C>A (p.His1314Asn) n.211C>A c.2197C>A (p.His733Asn) c.3949C>A (p.His1317Asn) | |
| 2 | g.165097405G>A | CA429880866 | SCN3A | c.4035C>T (p.Tyr1345=) c.4086C>T (p.Tyr1362=) c.*1927C>T (n.*1927C>T) c.*820C>T (n.*820C>T) c.2295C>T (n.2295C>T) c.3939C>T (p.Tyr1313=) n.210C>T c.2196C>T (p.Tyr732=) c.3948C>T (p.Tyr1316=) | gnomAD v4 |