Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165367227G>ACA1940132SCN2Ac.3531G>A (p.Arg1177=)
c.*1850G>A (n.*1850G>A)
c.*1518G>A (n.*1518G>A)
c.*4054G>A (n.*4054G>A)
c.*1473G>A (n.*1473G>A)
c.3135G>A (p.Arg1045=)
n.3674G>A
c.3501G>A (p.Arg1167=)
c.2778G>A (p.Arg926=)
c.1329G>A (p.Arg443=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.165367227G>CCA429886047SCN2Ac.3531G>C (p.Arg1177=)
c.*1850G>C (n.*1850G>C)
c.*1518G>C (n.*1518G>C)
c.*4054G>C (n.*4054G>C)
c.*1473G>C (n.*1473G>C)
c.3135G>C (p.Arg1045=)
n.3674G>C
c.3501G>C (p.Arg1167=)
c.2778G>C (p.Arg926=)
c.1329G>C (p.Arg443=)
2g.165367227G=CA1304555283SCN2Ac.3531G= (p.Arg1177=)
c.*1850G= (n.*1850G=)
c.*1518G= (n.*1518G=)
c.*4054G= (n.*4054G=)
c.*1473G= (n.*1473G=)
c.3135G= (p.Arg1045=)
n.3674G=
c.3501G= (p.Arg1167=)
c.2778G= (p.Arg926=)
c.1329G= (p.Arg443=)
2g.165367227G>TCA429886046SCN2Ac.3531G>T (p.Arg1177=)
c.*1850G>T (n.*1850G>T)
c.*1518G>T (n.*1518G>T)
c.*4054G>T (n.*4054G>T)
c.*1473G>T (n.*1473G>T)
c.3135G>T (p.Arg1045=)
n.3674G>T
c.3501G>T (p.Arg1167=)
c.2778G>T (p.Arg926=)
c.1329G>T (p.Arg443=)
2g.165367228A=CA1304555284SCN2Ac.3532A= (p.Lys1178=)
c.*1851A= (n.*1851A=)
c.*1519A= (n.*1519A=)
c.*4055A= (n.*4055A=)
c.*1474A= (n.*1474A=)
c.3136A= (p.Lys1046=)
n.3675A=
c.3502A= (p.Lys1168=)
c.2779A= (p.Lys927=)
c.1330A= (p.Lys444=)
2g.165367228A>CCA349025760SCN2Ac.3532A>C (p.Lys1178Gln)
c.*1851A>C (n.*1851A>C)
c.*1519A>C (n.*1519A>C)
c.*4055A>C (n.*4055A>C)
c.*1474A>C (n.*1474A>C)
c.3136A>C (p.Lys1046Gln)
n.3675A>C
c.3502A>C (p.Lys1168Gln)
c.2779A>C (p.Lys927Gln)
c.1330A>C (p.Lys444Gln)
2g.165367228A>GCA349025762SCN2Ac.3532A>G (p.Lys1178Glu)
c.*1851A>G (n.*1851A>G)
c.*1519A>G (n.*1519A>G)
c.*4055A>G (n.*4055A>G)
c.*1474A>G (n.*1474A>G)
c.3136A>G (p.Lys1046Glu)
n.3675A>G
c.3502A>G (p.Lys1168Glu)
c.2779A>G (p.Lys927Glu)
c.1330A>G (p.Lys444Glu)
2g.165367228A>TCA349025764SCN2Ac.3532A>T (p.Lys1178Ter)
c.*1851A>T (n.*1851A>T)
c.*1519A>T (n.*1519A>T)
c.*4055A>T (n.*4055A>T)
c.*1474A>T (n.*1474A>T)
c.3136A>T (p.Lys1046Ter)
n.3675A>T
c.3502A>T (p.Lys1168Ter)
c.2779A>T (p.Lys927Ter)
c.1330A>T (p.Lys444Ter)
dbSNP
2g.165367229A>CCA349025766SCN2Ac.3533A>C (p.Lys1178Thr)
c.*1852A>C (n.*1852A>C)
c.*1520A>C (n.*1520A>C)
c.*4056A>C (n.*4056A>C)
c.*1475A>C (n.*1475A>C)
c.3137A>C (p.Lys1046Thr)
n.3676A>C
c.3503A>C (p.Lys1168Thr)
c.2780A>C (p.Lys927Thr)
c.1331A>C (p.Lys444Thr)
2g.165367229A>GCA349025767SCN2Ac.3533A>G (p.Lys1178Arg)
c.*1852A>G (n.*1852A>G)
c.*1520A>G (n.*1520A>G)
c.*4056A>G (n.*4056A>G)
c.*1475A>G (n.*1475A>G)
c.3137A>G (p.Lys1046Arg)
n.3676A>G
c.3503A>G (p.Lys1168Arg)
c.2780A>G (p.Lys927Arg)
c.1331A>G (p.Lys444Arg)
2g.165367229A>TCA349025769SCN2Ac.3533A>T (p.Lys1178Met)
c.*1852A>T (n.*1852A>T)
c.*1520A>T (n.*1520A>T)
c.*4056A>T (n.*4056A>T)
c.*1475A>T (n.*1475A>T)
c.3137A>T (p.Lys1046Met)
n.3676A>T
c.3503A>T (p.Lys1168Met)
c.2780A>T (p.Lys927Met)
c.1331A>T (p.Lys444Met)
ClinVar
2g.165367230G>ACA429886048SCN2Ac.3534G>A (p.Lys1178=)
c.*1853G>A (n.*1853G>A)
c.*1521G>A (n.*1521G>A)
c.*4057G>A (n.*4057G>A)
c.*1476G>A (n.*1476G>A)
c.3138G>A (p.Lys1046=)
n.3677G>A
c.3504G>A (p.Lys1168=)
c.2781G>A (p.Lys927=)
c.1332G>A (p.Lys444=)
dbSNP
2g.165367230G>CCA349025771SCN2Ac.3534G>C (p.Lys1178Asn)
c.*1853G>C (n.*1853G>C)
c.*1521G>C (n.*1521G>C)
c.*4057G>C (n.*4057G>C)
c.*1476G>C (n.*1476G>C)
c.3138G>C (p.Lys1046Asn)
n.3677G>C
c.3504G>C (p.Lys1168Asn)
c.2781G>C (p.Lys927Asn)
c.1332G>C (p.Lys444Asn)
2g.165367230G=CA1304555285SCN2Ac.3534G= (p.Lys1178=)
c.*1853G= (n.*1853G=)
c.*1521G= (n.*1521G=)
c.*4057G= (n.*4057G=)
c.*1476G= (n.*1476G=)
c.3138G= (p.Lys1046=)
n.3677G=
c.3504G= (p.Lys1168=)
c.2781G= (p.Lys927=)
c.1332G= (p.Lys444=)
2g.165367230G>TCA349025772SCN2Ac.3534G>T (p.Lys1178Asn)
c.*1853G>T (n.*1853G>T)
c.*1521G>T (n.*1521G>T)
c.*4057G>T (n.*4057G>T)
c.*1476G>T (n.*1476G>T)
c.3138G>T (p.Lys1046Asn)
n.3677G>T
c.3504G>T (p.Lys1168Asn)
c.2781G>T (p.Lys927Asn)
c.1332G>T (p.Lys444Asn)
2g.165367231T>ACA349025774SCN2Ac.3535T>A (p.Phe1179Ile)
c.*1854T>A (n.*1854T>A)
c.*1522T>A (n.*1522T>A)
c.*4058T>A (n.*4058T>A)
c.*1477T>A (n.*1477T>A)
c.3139T>A (p.Phe1047Ile)
n.3678T>A
c.3505T>A (p.Phe1169Ile)
c.2782T>A (p.Phe928Ile)
c.1333T>A (p.Phe445Ile)
2g.165367231T>CCA349025778SCN2Ac.3535T>C (p.Phe1179Leu)
c.*1854T>C (n.*1854T>C)
c.*1522T>C (n.*1522T>C)
c.*4058T>C (n.*4058T>C)
c.*1477T>C (n.*1477T>C)
c.3139T>C (p.Phe1047Leu)
n.3678T>C
c.3505T>C (p.Phe1169Leu)
c.2782T>C (p.Phe928Leu)
c.1333T>C (p.Phe445Leu)
2g.165367231T>GCA349025776SCN2Ac.3535T>G (p.Phe1179Val)
c.*1854T>G (n.*1854T>G)
c.*1522T>G (n.*1522T>G)
c.*4058T>G (n.*4058T>G)
c.*1477T>G (n.*1477T>G)
c.3139T>G (p.Phe1047Val)
n.3678T>G
c.3505T>G (p.Phe1169Val)
c.2782T>G (p.Phe928Val)
c.1333T>G (p.Phe445Val)
2g.165367232T>ACA349025780SCN2Ac.3536T>A (p.Phe1179Tyr)
c.*1855T>A (n.*1855T>A)
c.*1523T>A (n.*1523T>A)
c.*4059T>A (n.*4059T>A)
c.*1478T>A (n.*1478T>A)
c.3140T>A (p.Phe1047Tyr)
n.3679T>A
c.3506T>A (p.Phe1169Tyr)
c.2783T>A (p.Phe928Tyr)
c.1334T>A (p.Phe445Tyr)
2g.165367232T>CCA349025783SCN2Ac.3536T>C (p.Phe1179Ser)
c.*1855T>C (n.*1855T>C)
c.*1523T>C (n.*1523T>C)
c.*4059T>C (n.*4059T>C)
c.*1478T>C (n.*1478T>C)
c.3140T>C (p.Phe1047Ser)
n.3679T>C
c.3506T>C (p.Phe1169Ser)
c.2783T>C (p.Phe928Ser)
c.1334T>C (p.Phe445Ser)
2g.165367232T>GCA349025781SCN2Ac.3536T>G (p.Phe1179Cys)
c.*1855T>G (n.*1855T>G)
c.*1523T>G (n.*1523T>G)
c.*4059T>G (n.*4059T>G)
c.*1478T>G (n.*1478T>G)
c.3140T>G (p.Phe1047Cys)
n.3679T>G
c.3506T>G (p.Phe1169Cys)
c.2783T>G (p.Phe928Cys)
c.1334T>G (p.Phe445Cys)
2g.165367233C>ACA349025785SCN2Ac.3537C>A (p.Phe1179Leu)
c.*1856C>A (n.*1856C>A)
c.*1524C>A (n.*1524C>A)
c.*4060C>A (n.*4060C>A)
c.*1479C>A (n.*1479C>A)
c.3141C>A (p.Phe1047Leu)
n.3680C>A
c.3507C>A (p.Phe1169Leu)
c.2784C>A (p.Phe928Leu)
c.1335C>A (p.Phe445Leu)
2g.165367233C>GCA349025786SCN2Ac.3537C>G (p.Phe1179Leu)
c.*1856C>G (n.*1856C>G)
c.*1524C>G (n.*1524C>G)
c.*4060C>G (n.*4060C>G)
c.*1479C>G (n.*1479C>G)
c.3141C>G (p.Phe1047Leu)
n.3680C>G
c.3507C>G (p.Phe1169Leu)
c.2784C>G (p.Phe928Leu)
c.1335C>G (p.Phe445Leu)
ClinVar dbSNP COSMIC COSMIC
2g.165367233C>TCA429886049SCN2Ac.3537C>T (p.Phe1179=)
c.*1856C>T (n.*1856C>T)
c.*1524C>T (n.*1524C>T)
c.*4060C>T (n.*4060C>T)
c.*1479C>T (n.*1479C>T)
c.3141C>T (p.Phe1047=)
n.3680C>T
c.3507C>T (p.Phe1169=)
c.2784C>T (p.Phe928=)
c.1335C>T (p.Phe445=)
2g.165367234A=CA1304555286SCN2Ac.3538A= (p.Lys1180=)
c.*1857A= (n.*1857A=)
c.*1525A= (n.*1525A=)
c.*4061A= (n.*4061A=)
c.*1480A= (n.*1480A=)
c.3142A= (p.Lys1048=)
n.3681A=
c.3508A= (p.Lys1170=)
c.2785A= (p.Lys929=)
c.1336A= (p.Lys446=)
2g.165367234A>CCA349025788SCN2Ac.3538A>C (p.Lys1180Gln)
c.*1857A>C (n.*1857A>C)
c.*1525A>C (n.*1525A>C)
c.*4061A>C (n.*4061A>C)
c.*1480A>C (n.*1480A>C)
c.3142A>C (p.Lys1048Gln)
n.3681A>C
c.3508A>C (p.Lys1170Gln)
c.2785A>C (p.Lys929Gln)
c.1336A>C (p.Lys446Gln)
2g.165367234A>GCA349025790SCN2Ac.3538A>G (p.Lys1180Glu)
c.*1857A>G (n.*1857A>G)
c.*1525A>G (n.*1525A>G)
c.*4061A>G (n.*4061A>G)
c.*1480A>G (n.*1480A>G)
c.3142A>G (p.Lys1048Glu)
n.3681A>G
c.3508A>G (p.Lys1170Glu)
c.2785A>G (p.Lys929Glu)
c.1336A>G (p.Lys446Glu)
2g.165367234A>TCA349025792SCN2Ac.3538A>T (p.Lys1180Ter)
c.*1857A>T (n.*1857A>T)
c.*1525A>T (n.*1525A>T)
c.*4061A>T (n.*4061A>T)
c.*1480A>T (n.*1480A>T)
c.3142A>T (p.Lys1048Ter)
n.3681A>T
c.3508A>T (p.Lys1170Ter)
c.2785A>T (p.Lys929Ter)
c.1336A>T (p.Lys446Ter)
dbSNP
2g.165367235A>CCA349025793SCN2Ac.3539A>C (p.Lys1180Thr)
c.*1858A>C (n.*1858A>C)
c.*1526A>C (n.*1526A>C)
c.*4062A>C (n.*4062A>C)
c.*1481A>C (n.*1481A>C)
c.3143A>C (p.Lys1048Thr)
n.3682A>C
c.3509A>C (p.Lys1170Thr)
c.2786A>C (p.Lys929Thr)
c.1337A>C (p.Lys446Thr)
2g.165367235A>GCA349025795SCN2Ac.3539A>G (p.Lys1180Arg)
c.*1858A>G (n.*1858A>G)
c.*1526A>G (n.*1526A>G)
c.*4062A>G (n.*4062A>G)
c.*1481A>G (n.*1481A>G)
c.3143A>G (p.Lys1048Arg)
n.3682A>G
c.3509A>G (p.Lys1170Arg)
c.2786A>G (p.Lys929Arg)
c.1337A>G (p.Lys446Arg)
2g.165367235A>TCA349025797SCN2Ac.3539A>T (p.Lys1180Met)
c.*1858A>T (n.*1858A>T)
c.*1526A>T (n.*1526A>T)
c.*4062A>T (n.*4062A>T)
c.*1481A>T (n.*1481A>T)
c.3143A>T (p.Lys1048Met)
n.3682A>T
c.3509A>T (p.Lys1170Met)
c.2786A>T (p.Lys929Met)
c.1337A>T (p.Lys446Met)
2g.165367236G>ACA429886050SCN2Ac.3540G>A (p.Lys1180=)
c.*1859G>A (n.*1859G>A)
c.*1527G>A (n.*1527G>A)
c.*4063G>A (n.*4063G>A)
c.*1482G>A (n.*1482G>A)
c.3144G>A (p.Lys1048=)
n.3683G>A
c.3510G>A (p.Lys1170=)
c.2787G>A (p.Lys929=)
c.1338G>A (p.Lys446=)
dbSNP gnomAD v4
2g.165367236G>CCA349025798SCN2Ac.3540G>C (p.Lys1180Asn)
c.*1859G>C (n.*1859G>C)
c.*1527G>C (n.*1527G>C)
c.*4063G>C (n.*4063G>C)
c.*1482G>C (n.*1482G>C)
c.3144G>C (p.Lys1048Asn)
n.3683G>C
c.3510G>C (p.Lys1170Asn)
c.2787G>C (p.Lys929Asn)
c.1338G>C (p.Lys446Asn)
2g.165367236G=CA1304555288SCN2Ac.3540G= (p.Lys1180=)
c.*1859G= (n.*1859G=)
c.*1527G= (n.*1527G=)
c.*4063G= (n.*4063G=)
c.*1482G= (n.*1482G=)
c.3144G= (p.Lys1048=)
n.3683G=
c.3510G= (p.Lys1170=)
c.2787G= (p.Lys929=)
c.1338G= (p.Lys446=)
2g.165367236G>TCA349025799SCN2Ac.3540G>T (p.Lys1180Asn)
c.*1859G>T (n.*1859G>T)
c.*1527G>T (n.*1527G>T)
c.*4063G>T (n.*4063G>T)
c.*1482G>T (n.*1482G>T)
c.3144G>T (p.Lys1048Asn)
n.3683G>T
c.3510G>T (p.Lys1170Asn)
c.2787G>T (p.Lys929Asn)
c.1338G>T (p.Lys446Asn)
2g.165367236_165367239delinsGTGTCA1304555287SCN2Ac.3540_3543delinsGTGT (p.Lys1180=)
c.*1859_*1862delinsGTGT (n.*1859_*1862delinsGTGT)
c.*1527_*1530delinsGTGT (n.*1527_*1530delinsGTGT)
c.*4063_*4066delinsGTGT (n.*4063_*4066delinsGTGT)
c.*1482_*1485delinsGTGT (n.*1482_*1485delinsGTGT)
c.3144_3147delinsGTGT (p.Lys1048=)
n.3683_3686delinsGTGT
c.3510_3513delinsGTGT (p.Lys1170=)
c.2787_2790delinsGTGT (p.Lys929=)
c.1338_1341delinsGTGT (p.Lys446=)
2g.165367237T>ACA349025801SCN2Ac.3541T>A (p.Cys1181Ser)
c.*1860T>A (n.*1860T>A)
c.*1528T>A (n.*1528T>A)
c.*4064T>A (n.*4064T>A)
c.*1483T>A (n.*1483T>A)
c.3145T>A (p.Cys1049Ser)
n.3684T>A
c.3511T>A (p.Cys1171Ser)
c.2788T>A (p.Cys930Ser)
c.1339T>A (p.Cys447Ser)
2g.165367237T>CCA349025803SCN2Ac.3541T>C (p.Cys1181Arg)
c.*1860T>C (n.*1860T>C)
c.*1528T>C (n.*1528T>C)
c.*4064T>C (n.*4064T>C)
c.*1483T>C (n.*1483T>C)
c.3145T>C (p.Cys1049Arg)
n.3684T>C
c.3511T>C (p.Cys1171Arg)
c.2788T>C (p.Cys930Arg)
c.1339T>C (p.Cys447Arg)
gnomAD v4
2g.165367237T>GCA349025804SCN2Ac.3541T>G (p.Cys1181Gly)
c.*1860T>G (n.*1860T>G)
c.*1528T>G (n.*1528T>G)
c.*4064T>G (n.*4064T>G)
c.*1483T>G (n.*1483T>G)
c.3145T>G (p.Cys1049Gly)
n.3684T>G
c.3511T>G (p.Cys1171Gly)
c.2788T>G (p.Cys930Gly)
c.1339T>G (p.Cys447Gly)
2g.165367240_165367242delCA760099459SCN2Ac.3544_3546del (p.Cys1182del)
c.*1863_*1865del (n.*1863_*1865del)
c.*1531_*1533del (n.*1531_*1533del)
c.*4067_*4069del (n.*4067_*4069del)
c.*1486_*1488del (n.*1486_*1488del)
c.3148_3150del (p.Cys1050del)
n.3687_3689del
c.3514_3516del (p.Cys1172del)
c.2791_2793del (p.Cys931del)
c.1342_1344del (p.Cys448del)
dbSNP gnomAD v3 gnomAD v4
2g.165367238G>ACA349025806SCN2Ac.3542G>A (p.Cys1181Tyr)
c.*1861G>A (n.*1861G>A)
c.*1529G>A (n.*1529G>A)
c.*4065G>A (n.*4065G>A)
c.*1484G>A (n.*1484G>A)
c.3146G>A (p.Cys1049Tyr)
n.3685G>A
c.3512G>A (p.Cys1171Tyr)
c.2789G>A (p.Cys930Tyr)
c.1340G>A (p.Cys447Tyr)
dbSNP
2g.165367238G>CCA349025808SCN2Ac.3542G>C (p.Cys1181Ser)
c.*1861G>C (n.*1861G>C)
c.*1529G>C (n.*1529G>C)
c.*4065G>C (n.*4065G>C)
c.*1484G>C (n.*1484G>C)
c.3146G>C (p.Cys1049Ser)
n.3685G>C
c.3512G>C (p.Cys1171Ser)
c.2789G>C (p.Cys930Ser)
c.1340G>C (p.Cys447Ser)
2g.165367238G=CA1304555289SCN2Ac.3542G= (p.Cys1181=)
c.*1861G= (n.*1861G=)
c.*1529G= (n.*1529G=)
c.*4065G= (n.*4065G=)
c.*1484G= (n.*1484G=)
c.3146G= (p.Cys1049=)
n.3685G=
c.3512G= (p.Cys1171=)
c.2789G= (p.Cys930=)
c.1340G= (p.Cys447=)
2g.165367238G>TCA1940133SCN2Ac.3542G>T (p.Cys1181Phe)
c.*1861G>T (n.*1861G>T)
c.*1529G>T (n.*1529G>T)
c.*4065G>T (n.*4065G>T)
c.*1484G>T (n.*1484G>T)
c.3146G>T (p.Cys1049Phe)
n.3685G>T
c.3512G>T (p.Cys1171Phe)
c.2789G>T (p.Cys930Phe)
c.1340G>T (p.Cys447Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165367239T>ACA349025810SCN2Ac.3543T>A (p.Cys1181Ter)
c.*1862T>A (n.*1862T>A)
c.*1530T>A (n.*1530T>A)
c.*4066T>A (n.*4066T>A)
c.*1485T>A (n.*1485T>A)
c.3147T>A (p.Cys1049Ter)
n.3686T>A
c.3513T>A (p.Cys1171Ter)
c.2790T>A (p.Cys930Ter)
c.1341T>A (p.Cys447Ter)
dbSNP
2g.165367239T>CCA429886051SCN2Ac.3543T>C (p.Cys1181=)
c.*1862T>C (n.*1862T>C)
c.*1530T>C (n.*1530T>C)
c.*4066T>C (n.*4066T>C)
c.*1485T>C (n.*1485T>C)
c.3147T>C (p.Cys1049=)
n.3686T>C
c.3513T>C (p.Cys1171=)
c.2790T>C (p.Cys930=)
c.1341T>C (p.Cys447=)
2g.165367239T>GCA349025811SCN2Ac.3543T>G (p.Cys1181Trp)
c.*1862T>G (n.*1862T>G)
c.*1530T>G (n.*1530T>G)
c.*4066T>G (n.*4066T>G)
c.*1485T>G (n.*1485T>G)
c.3147T>G (p.Cys1049Trp)
n.3686T>G
c.3513T>G (p.Cys1171Trp)
c.2790T>G (p.Cys930Trp)
c.1341T>G (p.Cys447Trp)
2g.165367239T=CA1304555290SCN2Ac.3543T= (p.Cys1181=)
c.*1862T= (n.*1862T=)
c.*1530T= (n.*1530T=)
c.*4066T= (n.*4066T=)
c.*1485T= (n.*1485T=)
c.3147T= (p.Cys1049=)
n.3686T=
c.3513T= (p.Cys1171=)
c.2790T= (p.Cys930=)
c.1341T= (p.Cys447=)
2g.165367240T>ACA349025813SCN2Ac.3544T>A (p.Cys1182Ser)
c.*1863T>A (n.*1863T>A)
c.*1531T>A (n.*1531T>A)
c.*4067T>A (n.*4067T>A)
c.*1486T>A (n.*1486T>A)
c.3148T>A (p.Cys1050Ser)
n.3687T>A
c.3514T>A (p.Cys1172Ser)
c.2791T>A (p.Cys931Ser)
c.1342T>A (p.Cys448Ser)
2g.165367240T>CCA349025815SCN2Ac.3544T>C (p.Cys1182Arg)
c.*1863T>C (n.*1863T>C)
c.*1531T>C (n.*1531T>C)
c.*4067T>C (n.*4067T>C)
c.*1486T>C (n.*1486T>C)
c.3148T>C (p.Cys1050Arg)
n.3687T>C
c.3514T>C (p.Cys1172Arg)
c.2791T>C (p.Cys931Arg)
c.1342T>C (p.Cys448Arg)
ClinVar gnomAD v4

Number of alleles fetched