Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165097385G>ACA1938648SCN3Ac.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
2g.165097385G>CCA349025575SCN3Ac.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)
2g.165097385G=CA1304438452SCN3Ac.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=)
2g.165097385G>TCA349025574SCN3Ac.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
2g.165097386T>ACA349025578SCN3Ac.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)
2g.165097386T>CCA349025576SCN3Ac.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)
2g.165097386T>GCA349025577SCN3Ac.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)
2g.165097387T>ACA429880857SCN3Ac.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=)
2g.165097387T>CCA429880858SCN3Ac.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=)
2g.165097387T>GCA429880859SCN3Ac.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=)
2g.165097388G>ACA349025579SCN3Ac.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)
2g.165097388G>CCA349025580SCN3Ac.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)
2g.165097388G>TCA349025581SCN3Ac.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)
2g.165097389T>ACA349025584SCN3Ac.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)
2g.165097389T>CCA349025583SCN3Ac.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)
2g.165097389T>GCA349025582SCN3Ac.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)
2g.165097390C>ACA349025585SCN3Ac.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)
2g.165097390C=CA1304438453SCN3Ac.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=)
2g.165097390C>GCA349025586SCN3Ac.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)
2g.165097390C>TCA1938649SCN3Ac.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
2g.165097391A=CA1304438454SCN3Ac.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=)
2g.165097391A>CCA349025587SCN3Ac.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
2g.165097391A>GCA59712771SCN3Ac.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
2g.165097391A>TCA349025588SCN3Ac.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)
2g.165097392T>ACA349025589SCN3Ac.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)
2g.165097392T>CCA349025591SCN3Ac.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)
2g.165097392T>GCA349025590SCN3Ac.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)
2g.165097393G>ACA429880860SCN3Ac.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
2g.165097393G>CCA349025592SCN3Ac.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)
2g.165097393G>TCA349025593SCN3Ac.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
2g.165097394T>ACA349025594SCN3Ac.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)
2g.165097394T>CCA349025595SCN3Ac.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)
2g.165097394T>GCA349025596SCN3Ac.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)
2g.165097395T>ACA349025597SCN3Ac.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)
2g.165097395T>CCA349025598SCN3Ac.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
2g.165097395T>GCA349025599SCN3Ac.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)
2g.165097395T=CA1304438455SCN3Ac.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=)
2g.165097396A>CCA429880861SCN3Ac.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=)
2g.165097396A>GCA429880862SCN3Ac.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=)
2g.165097396A>TCA429880863SCN3Ac.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=)
2g.165097397A>CCA349025600SCN3Ac.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)
2g.165097397A>GCA349025601SCN3Ac.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)
2g.165097397A>TCA349025602SCN3Ac.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)
2g.165097398C>ACA349025605SCN3Ac.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)
2g.165097398C>GCA349025604SCN3Ac.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)
2g.165097398C>TCA349025603SCN3Ac.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)
2g.165097399A=CA1304438456SCN3Ac.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=)
2g.165097399A>CCA349025606SCN3Ac.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)
2g.165097399A>GCA429880864SCN3Ac.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=)
2g.165097399A>TCA349025607SCN3Ac.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

Number of alleles fetched