| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165097377T>A | CA349025559 | SCN3A | c.4063A>T (p.Met1355Leu) c.4114A>T (p.Met1372Leu) c.*1955A>T (n.*1955A>T) c.*848A>T (n.*848A>T) c.2323A>T (n.2323A>T) c.3967A>T (p.Met1323Leu) n.238A>T c.2224A>T (p.Met742Leu) c.3976A>T (p.Met1326Leu) | |
| 2 | g.165097377T>C | CA1938645 | SCN3A | c.4063A>G (p.Met1355Val) c.4114A>G (p.Met1372Val) c.*1955A>G (n.*1955A>G) c.*848A>G (n.*848A>G) c.2323A>G (n.2323A>G) c.3967A>G (p.Met1323Val) n.238A>G c.2224A>G (p.Met742Val) c.3976A>G (p.Met1326Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097377T>G | CA349025560 | SCN3A | c.4063A>C (p.Met1355Leu) c.4114A>C (p.Met1372Leu) c.*1955A>C (n.*1955A>C) c.*848A>C (n.*848A>C) c.2323A>C (n.2323A>C) c.3967A>C (p.Met1323Leu) n.238A>C c.2224A>C (p.Met742Leu) c.3976A>C (p.Met1326Leu) | |
| 2 | g.165097377T= | CA1304438448 | SCN3A | c.4063A= (p.Met1355=) c.4114A= (p.Met1372=) c.*1955A= (n.*1955A=) c.*848A= (n.*848A=) c.2323A= (n.2323A=) c.3967A= (p.Met1323=) n.238A= c.2224A= (p.Met742=) c.3976A= (p.Met1326=) | |
| 2 | g.165097378G>A | CA1938646 | SCN3A | c.4062C>T (p.Asn1354=) c.4113C>T (p.Asn1371=) c.*1954C>T (n.*1954C>T) c.*847C>T (n.*847C>T) c.2322C>T (n.2322C>T) c.3966C>T (p.Asn1322=) n.237C>T c.2223C>T (p.Asn741=) c.3975C>T (p.Asn1325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097378G>C | CA349025561 | SCN3A | c.4062C>G (p.Asn1354Lys) c.4113C>G (p.Asn1371Lys) c.*1954C>G (n.*1954C>G) c.*847C>G (n.*847C>G) c.2322C>G (n.2322C>G) c.3966C>G (p.Asn1322Lys) n.237C>G c.2223C>G (p.Asn741Lys) c.3975C>G (p.Asn1325Lys) | |
| 2 | g.165097378G= | CA1304438449 | SCN3A | c.4062C= (p.Asn1354=) c.4113C= (p.Asn1371=) c.*1954C= (n.*1954C=) c.*847C= (n.*847C=) c.2322C= (n.2322C=) c.3966C= (p.Asn1322=) n.237C= c.2223C= (p.Asn741=) c.3975C= (p.Asn1325=) | |
| 2 | g.165097378G>T | CA349025562 | SCN3A | c.4062C>A (p.Asn1354Lys) c.4113C>A (p.Asn1371Lys) c.*1954C>A (n.*1954C>A) c.*847C>A (n.*847C>A) c.2322C>A (n.2322C>A) c.3966C>A (p.Asn1322Lys) n.237C>A c.2223C>A (p.Asn741Lys) c.3975C>A (p.Asn1325Lys) | |
| 2 | g.165097379T>A | CA349025563 | SCN3A | c.4061A>T (p.Asn1354Ile) c.4112A>T (p.Asn1371Ile) c.*1953A>T (n.*1953A>T) c.*846A>T (n.*846A>T) c.2321A>T (n.2321A>T) c.3965A>T (p.Asn1322Ile) n.236A>T c.2222A>T (p.Asn741Ile) c.3974A>T (p.Asn1325Ile) | dbSNP |
| 2 | g.165097379T>C | CA349025565 | SCN3A | c.4061A>G (p.Asn1354Ser) c.4112A>G (p.Asn1371Ser) c.*1953A>G (n.*1953A>G) c.*846A>G (n.*846A>G) c.2321A>G (n.2321A>G) c.3965A>G (p.Asn1322Ser) n.236A>G c.2222A>G (p.Asn741Ser) c.3974A>G (p.Asn1325Ser) | COSMIC COSMIC |
| 2 | g.165097379T>G | CA349025564 | SCN3A | c.4061A>C (p.Asn1354Thr) c.4112A>C (p.Asn1371Thr) c.*1953A>C (n.*1953A>C) c.*846A>C (n.*846A>C) c.2321A>C (n.2321A>C) c.3965A>C (p.Asn1322Thr) n.236A>C c.2222A>C (p.Asn741Thr) c.3974A>C (p.Asn1325Thr) | |
| 2 | g.165097380T>A | CA349025566 | SCN3A | c.4060A>T (p.Asn1354Tyr) c.4111A>T (p.Asn1371Tyr) c.*1952A>T (n.*1952A>T) c.*845A>T (n.*845A>T) c.2320A>T (n.2320A>T) c.3964A>T (p.Asn1322Tyr) n.235A>T c.2221A>T (p.Asn741Tyr) c.3973A>T (p.Asn1325Tyr) | |
| 2 | g.165097380T>C | CA349025567 | SCN3A | c.4060A>G (p.Asn1354Asp) c.4111A>G (p.Asn1371Asp) c.*1952A>G (n.*1952A>G) c.*845A>G (n.*845A>G) c.2320A>G (n.2320A>G) c.3964A>G (p.Asn1322Asp) n.235A>G c.2221A>G (p.Asn741Asp) c.3973A>G (p.Asn1325Asp) | |
| 2 | g.165097380T>G | CA349025568 | SCN3A | c.4060A>C (p.Asn1354His) c.4111A>C (p.Asn1371His) c.*1952A>C (n.*1952A>C) c.*845A>C (n.*845A>C) c.2320A>C (n.2320A>C) c.3964A>C (p.Asn1322His) n.235A>C c.2221A>C (p.Asn741His) c.3973A>C (p.Asn1325His) | |
| 2 | g.165097381A>C | CA429880852 | SCN3A | c.4059T>G (p.Gly1353=) c.4110T>G (p.Gly1370=) c.*1951T>G (n.*1951T>G) c.*844T>G (n.*844T>G) c.2319T>G (n.2319T>G) c.3963T>G (p.Gly1321=) n.234T>G c.2220T>G (p.Gly740=) c.3972T>G (p.Gly1324=) | |
| 2 | g.165097381A>G | CA429880853 | SCN3A | c.4059T>C (p.Gly1353=) c.4110T>C (p.Gly1370=) c.*1951T>C (n.*1951T>C) c.*844T>C (n.*844T>C) c.2319T>C (n.2319T>C) c.3963T>C (p.Gly1321=) n.234T>C c.2220T>C (p.Gly740=) c.3972T>C (p.Gly1324=) | |
| 2 | g.165097381A>T | CA429880854 | SCN3A | c.4059T>A (p.Gly1353=) c.4110T>A (p.Gly1370=) c.*1951T>A (n.*1951T>A) c.*844T>A (n.*844T>A) c.2319T>A (n.2319T>A) c.3963T>A (p.Gly1321=) n.234T>A c.2220T>A (p.Gly740=) c.3972T>A (p.Gly1324=) | |
| 2 | g.165097382C>A | CA349025569 | SCN3A | c.4058G>T (p.Gly1353Val) c.4109G>T (p.Gly1370Val) c.*1950G>T (n.*1950G>T) c.*843G>T (n.*843G>T) c.2318G>T (n.2318G>T) c.3962G>T (p.Gly1321Val) n.233G>T c.2219G>T (p.Gly740Val) c.3971G>T (p.Gly1324Val) | gnomAD v4 |
| 2 | g.165097382C>G | CA349025570 | SCN3A | c.4058G>C (p.Gly1353Ala) c.4109G>C (p.Gly1370Ala) c.*1950G>C (n.*1950G>C) c.*843G>C (n.*843G>C) c.2318G>C (n.2318G>C) c.3962G>C (p.Gly1321Ala) n.233G>C c.2219G>C (p.Gly740Ala) c.3971G>C (p.Gly1324Ala) | |
| 2 | g.165097382C>T | CA349025571 | SCN3A | c.4058G>A (p.Gly1353Asp) c.4109G>A (p.Gly1370Asp) c.*1950G>A (n.*1950G>A) c.*843G>A (n.*843G>A) c.2318G>A (n.2318G>A) c.3962G>A (p.Gly1321Asp) n.233G>A c.2219G>A (p.Gly740Asp) c.3971G>A (p.Gly1324Asp) | |
| 2 | g.165097384del | CA645533338 | SCN3A | c.4058del (p.Gly1353ValfsTer12) c.4109del (p.Gly1370ValfsTer12) c.*1950del (n.*1950del) c.*843del (n.*843del) c.2318del (n.2318del) c.3962del (p.Gly1321ValfsTer12) n.233del c.2219del (p.Gly740ValfsTer12) c.3971del (p.Gly1324ValfsTer12) | COSMIC COSMIC |
| 2 | g.165097383C>A | CA349025572 | SCN3A | c.4057G>T (p.Gly1353Cys) c.4108G>T (p.Gly1370Cys) c.*1949G>T (n.*1949G>T) c.*842G>T (n.*842G>T) c.2317G>T (n.2317G>T) c.3961G>T (p.Gly1321Cys) n.232G>T c.2218G>T (p.Gly740Cys) c.3970G>T (p.Gly1324Cys) | |
| 2 | g.165097383C= | CA1304438450 | SCN3A | c.4057G= (p.Gly1353=) c.4108G= (p.Gly1370=) c.*1949G= (n.*1949G=) c.*842G= (n.*842G=) c.2317G= (n.2317G=) c.3961G= (p.Gly1321=) n.232G= c.2218G= (p.Gly740=) c.3970G= (p.Gly1324=) | |
| 2 | g.165097383C>G | CA59712760 | SCN3A | c.4057G>C (p.Gly1353Arg) c.4108G>C (p.Gly1370Arg) c.*1949G>C (n.*1949G>C) c.*842G>C (n.*842G>C) c.2317G>C (n.2317G>C) c.3961G>C (p.Gly1321Arg) n.232G>C c.2218G>C (p.Gly740Arg) c.3970G>C (p.Gly1324Arg) | dbSNP |
| 2 | g.165097383C>T | CA349025573 | SCN3A | c.4057G>A (p.Gly1353Ser) c.4108G>A (p.Gly1370Ser) c.*1949G>A (n.*1949G>A) c.*842G>A (n.*842G>A) c.2317G>A (n.2317G>A) c.3961G>A (p.Gly1321Ser) n.232G>A c.2218G>A (p.Gly740Ser) c.3970G>A (p.Gly1324Ser) | |
| 2 | g.165097384C>A | CA429880856 | SCN3A | c.4056G>T (p.Thr1352=) c.4107G>T (p.Thr1369=) c.*1948G>T (n.*1948G>T) c.*841G>T (n.*841G>T) c.2316G>T (n.2316G>T) c.3960G>T (p.Thr1320=) n.231G>T c.2217G>T (p.Thr739=) c.3969G>T (p.Thr1323=) | |
| 2 | g.165097384C= | CA1304438451 | SCN3A | c.4056G= (p.Thr1352=) c.4107G= (p.Thr1369=) c.*1948G= (n.*1948G=) c.*841G= (n.*841G=) c.2316G= (n.2316G=) c.3960G= (p.Thr1320=) n.231G= c.2217G= (p.Thr739=) c.3969G= (p.Thr1323=) | |
| 2 | g.165097384C>G | CA1938647 | SCN3A | c.4056G>C (p.Thr1352=) c.4107G>C (p.Thr1369=) c.*1948G>C (n.*1948G>C) c.*841G>C (n.*841G>C) c.2316G>C (n.2316G>C) c.3960G>C (p.Thr1320=) n.231G>C c.2217G>C (p.Thr739=) c.3969G>C (p.Thr1323=) | dbSNP ExAC gnomAD v2 |
| 2 | g.165097384C>T | CA429880855 | SCN3A | c.4056G>A (p.Thr1352=) c.4107G>A (p.Thr1369=) c.*1948G>A (n.*1948G>A) c.*841G>A (n.*841G>A) c.2316G>A (n.2316G>A) c.3960G>A (p.Thr1320=) n.231G>A c.2217G>A (p.Thr739=) c.3969G>A (p.Thr1323=) | dbSNP gnomAD v4 |
| 2 | g.165097385G>A | CA1938648 | SCN3A | c.4055C>T (p.Thr1352Met) c.4106C>T (p.Thr1369Met) c.*1947C>T (n.*1947C>T) c.*840C>T (n.*840C>T) c.2315C>T (n.2315C>T) c.3959C>T (p.Thr1320Met) n.230C>T c.2216C>T (p.Thr739Met) c.3968C>T (p.Thr1323Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097385G>C | CA349025575 | SCN3A | c.4055C>G (p.Thr1352Arg) c.4106C>G (p.Thr1369Arg) c.*1947C>G (n.*1947C>G) c.*840C>G (n.*840C>G) c.2315C>G (n.2315C>G) c.3959C>G (p.Thr1320Arg) n.230C>G c.2216C>G (p.Thr739Arg) c.3968C>G (p.Thr1323Arg) | |
| 2 | g.165097385G= | CA1304438452 | SCN3A | c.4055C= (p.Thr1352=) c.4106C= (p.Thr1369=) c.*1947C= (n.*1947C=) c.*840C= (n.*840C=) c.2315C= (n.2315C=) c.3959C= (p.Thr1320=) n.230C= c.2216C= (p.Thr739=) c.3968C= (p.Thr1323=) | |
| 2 | g.165097385G>T | CA349025574 | SCN3A | c.4055C>A (p.Thr1352Lys) c.4106C>A (p.Thr1369Lys) c.*1947C>A (n.*1947C>A) c.*840C>A (n.*840C>A) c.2315C>A (n.2315C>A) c.3959C>A (p.Thr1320Lys) n.230C>A c.2216C>A (p.Thr739Lys) c.3968C>A (p.Thr1323Lys) | COSMIC COSMIC |
| 2 | g.165097386T>A | CA349025578 | SCN3A | c.4054A>T (p.Thr1352Ser) c.4105A>T (p.Thr1369Ser) c.*1946A>T (n.*1946A>T) c.*839A>T (n.*839A>T) c.2314A>T (n.2314A>T) c.3958A>T (p.Thr1320Ser) n.229A>T c.2215A>T (p.Thr739Ser) c.3967A>T (p.Thr1323Ser) | |
| 2 | g.165097386T>C | CA349025576 | SCN3A | c.4054A>G (p.Thr1352Ala) c.4105A>G (p.Thr1369Ala) c.*1946A>G (n.*1946A>G) c.*839A>G (n.*839A>G) c.2314A>G (n.2314A>G) c.3958A>G (p.Thr1320Ala) n.229A>G c.2215A>G (p.Thr739Ala) c.3967A>G (p.Thr1323Ala) | |
| 2 | g.165097386T>G | CA349025577 | SCN3A | c.4054A>C (p.Thr1352Pro) c.4105A>C (p.Thr1369Pro) c.*1946A>C (n.*1946A>C) c.*839A>C (n.*839A>C) c.2314A>C (n.2314A>C) c.3958A>C (p.Thr1320Pro) n.229A>C c.2215A>C (p.Thr739Pro) c.3967A>C (p.Thr1323Pro) | |
| 2 | g.165097387T>A | CA429880857 | SCN3A | c.4053A>T (p.Thr1351=) c.4104A>T (p.Thr1368=) c.*1945A>T (n.*1945A>T) c.*838A>T (n.*838A>T) c.2313A>T (n.2313A>T) c.3957A>T (p.Thr1319=) n.228A>T c.2214A>T (p.Thr738=) c.3966A>T (p.Thr1322=) | |
| 2 | g.165097387T>C | CA429880858 | SCN3A | c.4053A>G (p.Thr1351=) c.4104A>G (p.Thr1368=) c.*1945A>G (n.*1945A>G) c.*838A>G (n.*838A>G) c.2313A>G (n.2313A>G) c.3957A>G (p.Thr1319=) n.228A>G c.2214A>G (p.Thr738=) c.3966A>G (p.Thr1322=) | |
| 2 | g.165097387T>G | CA429880859 | SCN3A | c.4053A>C (p.Thr1351=) c.4104A>C (p.Thr1368=) c.*1945A>C (n.*1945A>C) c.*838A>C (n.*838A>C) c.2313A>C (n.2313A>C) c.3957A>C (p.Thr1319=) n.228A>C c.2214A>C (p.Thr738=) c.3966A>C (p.Thr1322=) | |
| 2 | g.165097388G>A | CA349025579 | SCN3A | c.4052C>T (p.Thr1351Ile) c.4103C>T (p.Thr1368Ile) c.*1944C>T (n.*1944C>T) c.*837C>T (n.*837C>T) c.2312C>T (n.2312C>T) c.3956C>T (p.Thr1319Ile) n.227C>T c.2213C>T (p.Thr738Ile) c.3965C>T (p.Thr1322Ile) | |
| 2 | g.165097388G>C | CA349025580 | SCN3A | c.4052C>G (p.Thr1351Arg) c.4103C>G (p.Thr1368Arg) c.*1944C>G (n.*1944C>G) c.*837C>G (n.*837C>G) c.2312C>G (n.2312C>G) c.3956C>G (p.Thr1319Arg) n.227C>G c.2213C>G (p.Thr738Arg) c.3965C>G (p.Thr1322Arg) | |
| 2 | g.165097388G>T | CA349025581 | SCN3A | c.4052C>A (p.Thr1351Lys) c.4103C>A (p.Thr1368Lys) c.*1944C>A (n.*1944C>A) c.*837C>A (n.*837C>A) c.2312C>A (n.2312C>A) c.3956C>A (p.Thr1319Lys) n.227C>A c.2213C>A (p.Thr738Lys) c.3965C>A (p.Thr1322Lys) | |
| 2 | g.165097389T>A | CA349025584 | SCN3A | c.4051A>T (p.Thr1351Ser) c.4102A>T (p.Thr1368Ser) c.*1943A>T (n.*1943A>T) c.*836A>T (n.*836A>T) c.2311A>T (n.2311A>T) c.3955A>T (p.Thr1319Ser) n.226A>T c.2212A>T (p.Thr738Ser) c.3964A>T (p.Thr1322Ser) | |
| 2 | g.165097389T>C | CA349025583 | SCN3A | c.4051A>G (p.Thr1351Ala) c.4102A>G (p.Thr1368Ala) c.*1943A>G (n.*1943A>G) c.*836A>G (n.*836A>G) c.2311A>G (n.2311A>G) c.3955A>G (p.Thr1319Ala) n.226A>G c.2212A>G (p.Thr738Ala) c.3964A>G (p.Thr1322Ala) | |
| 2 | g.165097389T>G | CA349025582 | SCN3A | c.4051A>C (p.Thr1351Pro) c.4102A>C (p.Thr1368Pro) c.*1943A>C (n.*1943A>C) c.*836A>C (n.*836A>C) c.2311A>C (n.2311A>C) c.3955A>C (p.Thr1319Pro) n.226A>C c.2212A>C (p.Thr738Pro) c.3964A>C (p.Thr1322Pro) | |
| 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=) |