Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165374769A>CCA349030540SCN2Ac.4057A>C (p.Ile1353Leu)
c.*2376A>C (n.*2376A>C)
c.*2044A>C (n.*2044A>C)
c.*4580A>C (n.*4580A>C)
c.*1999A>C (n.*1999A>C)
c.3661A>C (p.Ile1221Leu)
n.7125A>C
c.4027A>C (p.Ile1343Leu)
c.3304A>C (p.Ile1102Leu)
c.1855A>C (p.Ile619Leu)
2g.165374769A>GCA349030537SCN2Ac.4057A>G (p.Ile1353Val)
c.*2376A>G (n.*2376A>G)
c.*2044A>G (n.*2044A>G)
c.*4580A>G (n.*4580A>G)
c.*1999A>G (n.*1999A>G)
c.3661A>G (p.Ile1221Val)
n.7125A>G
c.4027A>G (p.Ile1343Val)
c.3304A>G (p.Ile1102Val)
c.1855A>G (p.Ile619Val)
2g.165374769A>TCA349030535SCN2Ac.4057A>T (p.Ile1353Phe)
c.*2376A>T (n.*2376A>T)
c.*2044A>T (n.*2044A>T)
c.*4580A>T (n.*4580A>T)
c.*1999A>T (n.*1999A>T)
c.3661A>T (p.Ile1221Phe)
n.7125A>T
c.4027A>T (p.Ile1343Phe)
c.3304A>T (p.Ile1102Phe)
c.1855A>T (p.Ile619Phe)
2g.165374770T>ACA349030545SCN2Ac.4058T>A (p.Ile1353Asn)
c.*2377T>A (n.*2377T>A)
c.*2045T>A (n.*2045T>A)
c.*4581T>A (n.*4581T>A)
c.*2000T>A (n.*2000T>A)
c.3662T>A (p.Ile1221Asn)
n.7126T>A
c.4028T>A (p.Ile1343Asn)
c.3305T>A (p.Ile1102Asn)
c.1856T>A (p.Ile619Asn)
2g.165374770T>CCA349030548SCN2Ac.4058T>C (p.Ile1353Thr)
c.*2377T>C (n.*2377T>C)
c.*2045T>C (n.*2045T>C)
c.*4581T>C (n.*4581T>C)
c.*2000T>C (n.*2000T>C)
c.3662T>C (p.Ile1221Thr)
n.7126T>C
c.4028T>C (p.Ile1343Thr)
c.3305T>C (p.Ile1102Thr)
c.1856T>C (p.Ile619Thr)
2g.165374770T>GCA349030551SCN2Ac.4058T>G (p.Ile1353Ser)
c.*2377T>G (n.*2377T>G)
c.*2045T>G (n.*2045T>G)
c.*4581T>G (n.*4581T>G)
c.*2000T>G (n.*2000T>G)
c.3662T>G (p.Ile1221Ser)
n.7126T>G
c.4028T>G (p.Ile1343Ser)
c.3305T>G (p.Ile1102Ser)
c.1856T>G (p.Ile619Ser)
2g.165374771C>ACA429886681SCN2Ac.4059C>A (p.Ile1353=)
c.*2378C>A (n.*2378C>A)
c.*2046C>A (n.*2046C>A)
c.*4582C>A (n.*4582C>A)
c.*2001C>A (n.*2001C>A)
c.3663C>A (p.Ile1221=)
n.7127C>A
c.4029C>A (p.Ile1343=)
c.3306C>A (p.Ile1102=)
c.1857C>A (p.Ile619=)
2g.165374771C=CA1304559737SCN2Ac.4059C= (p.Ile1353=)
c.*2378C= (n.*2378C=)
c.*2046C= (n.*2046C=)
c.*4582C= (n.*4582C=)
c.*2001C= (n.*2001C=)
c.3663C= (p.Ile1221=)
n.7127C=
c.4029C= (p.Ile1343=)
c.3306C= (p.Ile1102=)
c.1857C= (p.Ile619=)
2g.165374771C>GCA317960SCN2Ac.4059C>G (p.Ile1353Met)
c.*2378C>G (n.*2378C>G)
c.*2046C>G (n.*2046C>G)
c.*4582C>G (n.*4582C>G)
c.*2001C>G (n.*2001C>G)
c.3663C>G (p.Ile1221Met)
n.7127C>G
c.4029C>G (p.Ile1343Met)
c.3306C>G (p.Ile1102Met)
c.1857C>G (p.Ile619Met)
 ClinVar dbSNP gnomAD v4
2g.165374771C>TCA429886682SCN2Ac.4059C>T (p.Ile1353=)
c.*2378C>T (n.*2378C>T)
c.*2046C>T (n.*2046C>T)
c.*4582C>T (n.*4582C>T)
c.*2001C>T (n.*2001C>T)
c.3663C>T (p.Ile1221=)
n.7127C>T
c.4029C>T (p.Ile1343=)
c.3306C>T (p.Ile1102=)
c.1857C>T (p.Ile619=)
2g.165374772A=CA1304559742SCN2Ac.4060A= (p.Met1354=)
c.*2379A= (n.*2379A=)
c.*2047A= (n.*2047A=)
c.*4583A= (n.*4583A=)
c.*2002A= (n.*2002A=)
c.3664A= (p.Met1222=)
n.7128A=
c.4030A= (p.Met1344=)
c.3307A= (p.Met1103=)
c.1858A= (p.Met620=)
2g.165374772A>CCA349030557SCN2Ac.4060A>C (p.Met1354Leu)
c.*2379A>C (n.*2379A>C)
c.*2047A>C (n.*2047A>C)
c.*4583A>C (n.*4583A>C)
c.*2002A>C (n.*2002A>C)
c.3664A>C (p.Met1222Leu)
n.7128A>C
c.4030A>C (p.Met1344Leu)
c.3307A>C (p.Met1103Leu)
c.1858A>C (p.Met620Leu)
2g.165374772A>GCA349030560SCN2Ac.4060A>G (p.Met1354Val)
c.*2379A>G (n.*2379A>G)
c.*2047A>G (n.*2047A>G)
c.*4583A>G (n.*4583A>G)
c.*2002A>G (n.*2002A>G)
c.3664A>G (p.Met1222Val)
n.7128A>G
c.4030A>G (p.Met1344Val)
c.3307A>G (p.Met1103Val)
c.1858A>G (p.Met620Val)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.165374772A>TCA349030562SCN2Ac.4060A>T (p.Met1354Leu)
c.*2379A>T (n.*2379A>T)
c.*2047A>T (n.*2047A>T)
c.*4583A>T (n.*4583A>T)
c.*2002A>T (n.*2002A>T)
c.3664A>T (p.Met1222Leu)
n.7128A>T
c.4030A>T (p.Met1344Leu)
c.3307A>T (p.Met1103Leu)
c.1858A>T (p.Met620Leu)
2g.165374773T>ACA349030564SCN2Ac.4061T>A (p.Met1354Lys)
c.*2380T>A (n.*2380T>A)
c.*2048T>A (n.*2048T>A)
c.*4584T>A (n.*4584T>A)
c.*2003T>A (n.*2003T>A)
c.3665T>A (p.Met1222Lys)
n.7129T>A
c.4031T>A (p.Met1344Lys)
c.3308T>A (p.Met1103Lys)
c.1859T>A (p.Met620Lys)
2g.165374773T>CCA349030570SCN2Ac.4061T>C (p.Met1354Thr)
c.*2380T>C (n.*2380T>C)
c.*2048T>C (n.*2048T>C)
c.*4584T>C (n.*4584T>C)
c.*2003T>C (n.*2003T>C)
c.3665T>C (p.Met1222Thr)
n.7129T>C
c.4031T>C (p.Met1344Thr)
c.3308T>C (p.Met1103Thr)
c.1859T>C (p.Met620Thr)
 ClinVar dbSNP
2g.165374773T>GCA349030574SCN2Ac.4061T>G (p.Met1354Arg)
c.*2380T>G (n.*2380T>G)
c.*2048T>G (n.*2048T>G)
c.*4584T>G (n.*4584T>G)
c.*2003T>G (n.*2003T>G)
c.3665T>G (p.Met1222Arg)
n.7129T>G
c.4031T>G (p.Met1344Arg)
c.3308T>G (p.Met1103Arg)
c.1859T>G (p.Met620Arg)
2g.165374773T=CA1304559749SCN2Ac.4061T= (p.Met1354=)
c.*2380T= (n.*2380T=)
c.*2048T= (n.*2048T=)
c.*4584T= (n.*4584T=)
c.*2003T= (n.*2003T=)
c.3665T= (p.Met1222=)
n.7129T=
c.4031T= (p.Met1344=)
c.3308T= (p.Met1103=)
c.1859T= (p.Met620=)
2g.165374774G>ACA349030578SCN2Ac.4062G>A (p.Met1354Ile)
c.*2381G>A (n.*2381G>A)
c.*2049G>A (n.*2049G>A)
c.*4585G>A (n.*4585G>A)
c.*2004G>A (n.*2004G>A)
c.3666G>A (p.Met1222Ile)
n.7130G>A
c.4032G>A (p.Met1344Ile)
c.3309G>A (p.Met1103Ile)
c.1860G>A (p.Met620Ile)
2g.165374774G>CCA349030580SCN2Ac.4062G>C (p.Met1354Ile)
c.*2381G>C (n.*2381G>C)
c.*2049G>C (n.*2049G>C)
c.*4585G>C (n.*4585G>C)
c.*2004G>C (n.*2004G>C)
c.3666G>C (p.Met1222Ile)
n.7130G>C
c.4032G>C (p.Met1344Ile)
c.3309G>C (p.Met1103Ile)
c.1860G>C (p.Met620Ile)
2g.165374774G>TCA349030584SCN2Ac.4062G>T (p.Met1354Ile)
c.*2381G>T (n.*2381G>T)
c.*2049G>T (n.*2049G>T)
c.*4585G>T (n.*4585G>T)
c.*2004G>T (n.*2004G>T)
c.3666G>T (p.Met1222Ile)
n.7130G>T
c.4032G>T (p.Met1344Ile)
c.3309G>T (p.Met1103Ile)
c.1860G>T (p.Met620Ile)
2g.165374774_165374787delinsGGGAGTGAATCTCTCA1304559752SCN2Ac.4062_4075delinsGGGAGTGAATCTCT (p.Met1354=)
c.*2381_*2394delinsGGGAGTGAATCTCT (n.*2381_*2394delinsGGGAGTGAATCTCT)
c.*2049_*2062delinsGGGAGTGAATCTCT (n.*2049_*2062delinsGGGAGTGAATCTCT)
c.*4585_*4598delinsGGGAGTGAATCTCT (n.*4585_*4598delinsGGGAGTGAATCTCT)
c.*2004_*2017delinsGGGAGTGAATCTCT (n.*2004_*2017delinsGGGAGTGAATCTCT)
c.3666_3679delinsGGGAGTGAATCTCT (p.Met1222=)
n.7130_7143delinsGGGAGTGAATCTCT
c.4032_4045delinsGGGAGTGAATCTCT (p.Met1344=)
c.3309_3322delinsGGGAGTGAATCTCT (p.Met1103=)
c.1860_1873delinsGGGAGTGAATCTCT (p.Met620=)
2g.165374775G>ACA349030589SCN2Ac.4063G>A (p.Gly1355Arg)
c.*2382G>A (n.*2382G>A)
c.*2050G>A (n.*2050G>A)
c.*4586G>A (n.*4586G>A)
c.*2005G>A (n.*2005G>A)
c.3667G>A (p.Gly1223Arg)
n.7131G>A
c.4033G>A (p.Gly1345Arg)
c.3310G>A (p.Gly1104Arg)
c.1861G>A (p.Gly621Arg)
2g.165374775G>CCA349030585SCN2Ac.4063G>C (p.Gly1355Arg)
c.*2382G>C (n.*2382G>C)
c.*2050G>C (n.*2050G>C)
c.*4586G>C (n.*4586G>C)
c.*2005G>C (n.*2005G>C)
c.3667G>C (p.Gly1223Arg)
n.7131G>C
c.4033G>C (p.Gly1345Arg)
c.3310G>C (p.Gly1104Arg)
c.1861G>C (p.Gly621Arg)
2g.165374775G=CA1304559757SCN2Ac.4063G= (p.Gly1355=)
c.*2382G= (n.*2382G=)
c.*2050G= (n.*2050G=)
c.*4586G= (n.*4586G=)
c.*2005G= (n.*2005G=)
c.3667G= (p.Gly1223=)
n.7131G=
c.4033G= (p.Gly1345=)
c.3310G= (p.Gly1104=)
c.1861G= (p.Gly621=)
2g.165374775G>TCA349030587SCN2Ac.4063G>T (p.Gly1355Ter)
c.*2382G>T (n.*2382G>T)
c.*2050G>T (n.*2050G>T)
c.*4586G>T (n.*4586G>T)
c.*2005G>T (n.*2005G>T)
c.3667G>T (p.Gly1223Ter)
n.7131G>T
c.4033G>T (p.Gly1345Ter)
c.3310G>T (p.Gly1104Ter)
c.1861G>T (p.Gly621Ter)
 dbSNP
2g.165374775_165374787delCA16043608SCN2Ac.4063_4075del (p.Gly1355LeufsTer19)
c.*2382_*2394del (n.*2382_*2394del)
c.*2050_*2062del (n.*2050_*2062del)
c.*4586_*4598del (n.*4586_*4598del)
c.*2005_*2017del (n.*2005_*2017del)
c.3667_3679del (p.Gly1223LeufsTer19)
n.7131_7143del
c.4033_4045del (p.Gly1345LeufsTer19)
c.3310_3322del (p.Gly1104LeufsTer19)
c.1861_1873del (p.Gly621LeufsTer19)
 ClinVar dbSNP
2g.165374776G>ACA349030593SCN2Ac.4064G>A (p.Gly1355Glu)
c.*2383G>A (n.*2383G>A)
c.*2051G>A (n.*2051G>A)
c.*4587G>A (n.*4587G>A)
c.*2006G>A (n.*2006G>A)
c.3668G>A (p.Gly1223Glu)
n.7132G>A
c.4034G>A (p.Gly1345Glu)
c.3311G>A (p.Gly1104Glu)
c.1862G>A (p.Gly621Glu)
2g.165374776G>CCA349030599SCN2Ac.4064G>C (p.Gly1355Ala)
c.*2383G>C (n.*2383G>C)
c.*2051G>C (n.*2051G>C)
c.*4587G>C (n.*4587G>C)
c.*2006G>C (n.*2006G>C)
c.3668G>C (p.Gly1223Ala)
n.7132G>C
c.4034G>C (p.Gly1345Ala)
c.3311G>C (p.Gly1104Ala)
c.1862G>C (p.Gly621Ala)
2g.165374776G>TCA349030602SCN2Ac.4064G>T (p.Gly1355Val)
c.*2383G>T (n.*2383G>T)
c.*2051G>T (n.*2051G>T)
c.*4587G>T (n.*4587G>T)
c.*2006G>T (n.*2006G>T)
c.3668G>T (p.Gly1223Val)
n.7132G>T
c.4034G>T (p.Gly1345Val)
c.3311G>T (p.Gly1104Val)
c.1862G>T (p.Gly621Val)
2g.165374777A>CCA429886685SCN2Ac.4065A>C (p.Gly1355=)
c.*2384A>C (n.*2384A>C)
c.*2052A>C (n.*2052A>C)
c.*4588A>C (n.*4588A>C)
c.*2007A>C (n.*2007A>C)
c.3669A>C (p.Gly1223=)
n.7133A>C
c.4035A>C (p.Gly1345=)
c.3312A>C (p.Gly1104=)
c.1863A>C (p.Gly621=)
2g.165374777A>GCA429886686SCN2Ac.4065A>G (p.Gly1355=)
c.*2384A>G (n.*2384A>G)
c.*2052A>G (n.*2052A>G)
c.*4588A>G (n.*4588A>G)
c.*2007A>G (n.*2007A>G)
c.3669A>G (p.Gly1223=)
n.7133A>G
c.4035A>G (p.Gly1345=)
c.3312A>G (p.Gly1104=)
c.1863A>G (p.Gly621=)
2g.165374777A>TCA429886687SCN2Ac.4065A>T (p.Gly1355=)
c.*2384A>T (n.*2384A>T)
c.*2052A>T (n.*2052A>T)
c.*4588A>T (n.*4588A>T)
c.*2007A>T (n.*2007A>T)
c.3669A>T (p.Gly1223=)
n.7133A>T
c.4035A>T (p.Gly1345=)
c.3312A>T (p.Gly1104=)
c.1863A>T (p.Gly621=)
2g.165374778G>ACA349030606SCN2Ac.4066G>A (p.Val1356Met)
c.*2385G>A (n.*2385G>A)
c.*2053G>A (n.*2053G>A)
c.*4589G>A (n.*4589G>A)
c.*2008G>A (n.*2008G>A)
c.3670G>A (p.Val1224Met)
n.7134G>A
c.4036G>A (p.Val1346Met)
c.3313G>A (p.Val1105Met)
c.1864G>A (p.Val622Met)
 gnomAD v4
2g.165374778G>CCA349030608SCN2Ac.4066G>C (p.Val1356Leu)
c.*2385G>C (n.*2385G>C)
c.*2053G>C (n.*2053G>C)
c.*4589G>C (n.*4589G>C)
c.*2008G>C (n.*2008G>C)
c.3670G>C (p.Val1224Leu)
n.7134G>C
c.4036G>C (p.Val1346Leu)
c.3313G>C (p.Val1105Leu)
c.1864G>C (p.Val622Leu)
2g.165374778G>TCA349030610SCN2Ac.4066G>T (p.Val1356Leu)
c.*2385G>T (n.*2385G>T)
c.*2053G>T (n.*2053G>T)
c.*4589G>T (n.*4589G>T)
c.*2008G>T (n.*2008G>T)
c.3670G>T (p.Val1224Leu)
n.7134G>T
c.4036G>T (p.Val1346Leu)
c.3313G>T (p.Val1105Leu)
c.1864G>T (p.Val622Leu)
2g.165374779T>ACA349030613SCN2Ac.4067T>A (p.Val1356Glu)
c.*2386T>A (n.*2386T>A)
c.*2054T>A (n.*2054T>A)
c.*4590T>A (n.*4590T>A)
c.*2009T>A (n.*2009T>A)
c.3671T>A (p.Val1224Glu)
n.7135T>A
c.4037T>A (p.Val1346Glu)
c.3314T>A (p.Val1105Glu)
c.1865T>A (p.Val622Glu)
2g.165374779T>CCA349030616SCN2Ac.4067T>C (p.Val1356Ala)
c.*2386T>C (n.*2386T>C)
c.*2054T>C (n.*2054T>C)
c.*4590T>C (n.*4590T>C)
c.*2009T>C (n.*2009T>C)
c.3671T>C (p.Val1224Ala)
n.7135T>C
c.4037T>C (p.Val1346Ala)
c.3314T>C (p.Val1105Ala)
c.1865T>C (p.Val622Ala)
2g.165374779T>GCA349030617SCN2Ac.4067T>G (p.Val1356Gly)
c.*2386T>G (n.*2386T>G)
c.*2054T>G (n.*2054T>G)
c.*4590T>G (n.*4590T>G)
c.*2009T>G (n.*2009T>G)
c.3671T>G (p.Val1224Gly)
n.7135T>G
c.4037T>G (p.Val1346Gly)
c.3314T>G (p.Val1105Gly)
c.1865T>G (p.Val622Gly)
2g.165374780G>ACA429886690SCN2Ac.4068G>A (p.Val1356=)
c.*2387G>A (n.*2387G>A)
c.*2055G>A (n.*2055G>A)
c.*4591G>A (n.*4591G>A)
c.*2010G>A (n.*2010G>A)
c.3672G>A (p.Val1224=)
n.7136G>A
c.4038G>A (p.Val1346=)
c.3315G>A (p.Val1105=)
c.1866G>A (p.Val622=)
2g.165374780G>CCA429886689SCN2Ac.4068G>C (p.Val1356=)
c.*2387G>C (n.*2387G>C)
c.*2055G>C (n.*2055G>C)
c.*4591G>C (n.*4591G>C)
c.*2010G>C (n.*2010G>C)
c.3672G>C (p.Val1224=)
n.7136G>C
c.4038G>C (p.Val1346=)
c.3315G>C (p.Val1105=)
c.1866G>C (p.Val622=)
2g.165374780G>TCA429886688SCN2Ac.4068G>T (p.Val1356=)
c.*2387G>T (n.*2387G>T)
c.*2055G>T (n.*2055G>T)
c.*4591G>T (n.*4591G>T)
c.*2010G>T (n.*2010G>T)
c.3672G>T (p.Val1224=)
n.7136G>T
c.4038G>T (p.Val1346=)
c.3315G>T (p.Val1105=)
c.1866G>T (p.Val622=)
2g.165374781A>CCA349030619SCN2Ac.4069A>C (p.Asn1357His)
c.*2388A>C (n.*2388A>C)
c.*2056A>C (n.*2056A>C)
c.*4592A>C (n.*4592A>C)
c.*2011A>C (n.*2011A>C)
c.3673A>C (p.Asn1225His)
n.7137A>C
c.4039A>C (p.Asn1347His)
c.3316A>C (p.Asn1106His)
c.1867A>C (p.Asn623His)
2g.165374781A>GCA349030620SCN2Ac.4069A>G (p.Asn1357Asp)
c.*2388A>G (n.*2388A>G)
c.*2056A>G (n.*2056A>G)
c.*4592A>G (n.*4592A>G)
c.*2011A>G (n.*2011A>G)
c.3673A>G (p.Asn1225Asp)
n.7137A>G
c.4039A>G (p.Asn1347Asp)
c.3316A>G (p.Asn1106Asp)
c.1867A>G (p.Asn623Asp)
2g.165374781A>TCA349030621SCN2Ac.4069A>T (p.Asn1357Tyr)
c.*2388A>T (n.*2388A>T)
c.*2056A>T (n.*2056A>T)
c.*4592A>T (n.*4592A>T)
c.*2011A>T (n.*2011A>T)
c.3673A>T (p.Asn1225Tyr)
n.7137A>T
c.4039A>T (p.Asn1347Tyr)
c.3316A>T (p.Asn1106Tyr)
c.1867A>T (p.Asn623Tyr)
 ClinVar dbSNP
2g.165374782A>CCA349030624SCN2Ac.4070A>C (p.Asn1357Thr)
c.*2389A>C (n.*2389A>C)
c.*2057A>C (n.*2057A>C)
c.*4593A>C (n.*4593A>C)
c.*2012A>C (n.*2012A>C)
c.3674A>C (p.Asn1225Thr)
n.7138A>C
c.4040A>C (p.Asn1347Thr)
c.3317A>C (p.Asn1106Thr)
c.1868A>C (p.Asn623Thr)
2g.165374782A>GCA349030627SCN2Ac.4070A>G (p.Asn1357Ser)
c.*2389A>G (n.*2389A>G)
c.*2057A>G (n.*2057A>G)
c.*4593A>G (n.*4593A>G)
c.*2012A>G (n.*2012A>G)
c.3674A>G (p.Asn1225Ser)
n.7138A>G
c.4040A>G (p.Asn1347Ser)
c.3317A>G (p.Asn1106Ser)
c.1868A>G (p.Asn623Ser)
2g.165374782A>TCA349030623SCN2Ac.4070A>T (p.Asn1357Ile)
c.*2389A>T (n.*2389A>T)
c.*2057A>T (n.*2057A>T)
c.*4593A>T (n.*4593A>T)
c.*2012A>T (n.*2012A>T)
c.3674A>T (p.Asn1225Ile)
n.7138A>T
c.4040A>T (p.Asn1347Ile)
c.3317A>T (p.Asn1106Ile)
c.1868A>T (p.Asn623Ile)
2g.165374783delCA2661740958SCN2Ac.4071del (p.Leu1358SerfsTer20)
c.*2390del (n.*2390del)
c.*2058del (n.*2058del)
c.*4594del (n.*4594del)
c.*2013del (n.*2013del)
c.3675del (p.Leu1226SerfsTer20)
n.7139del
c.4041del (p.Leu1348SerfsTer20)
c.3318del (p.Leu1107SerfsTer20)
c.1869del (p.Leu624SerfsTer20)
 gnomAD v4
2g.165374783T>ACA349030634SCN2Ac.4071T>A (p.Asn1357Lys)
c.*2390T>A (n.*2390T>A)
c.*2058T>A (n.*2058T>A)
c.*4594T>A (n.*4594T>A)
c.*2013T>A (n.*2013T>A)
c.3675T>A (p.Asn1225Lys)
n.7139T>A
c.4041T>A (p.Asn1347Lys)
c.3318T>A (p.Asn1106Lys)
c.1869T>A (p.Asn623Lys)
2g.165374783T>CCA429886692SCN2Ac.4071T>C (p.Asn1357=)
c.*2390T>C (n.*2390T>C)
c.*2058T>C (n.*2058T>C)
c.*4594T>C (n.*4594T>C)
c.*2013T>C (n.*2013T>C)
c.3675T>C (p.Asn1225=)
n.7139T>C
c.4041T>C (p.Asn1347=)
c.3318T>C (p.Asn1106=)
c.1869T>C (p.Asn623=)
2g.165374783T>GCA349030630SCN2Ac.4071T>G (p.Asn1357Lys)
c.*2390T>G (n.*2390T>G)
c.*2058T>G (n.*2058T>G)
c.*4594T>G (n.*4594T>G)
c.*2013T>G (n.*2013T>G)
c.3675T>G (p.Asn1225Lys)
n.7139T>G
c.4041T>G (p.Asn1347Lys)
c.3318T>G (p.Asn1106Lys)
c.1869T>G (p.Asn623Lys)
2g.165374784C>ACA349030645SCN2Ac.4072C>A (p.Leu1358Ile)
c.*2391C>A (n.*2391C>A)
c.*2059C>A (n.*2059C>A)
c.*4595C>A (n.*4595C>A)
c.*2014C>A (n.*2014C>A)
c.3676C>A (p.Leu1226Ile)
n.7140C>A
c.4042C>A (p.Leu1348Ile)
c.3319C>A (p.Leu1107Ile)
c.1870C>A (p.Leu624Ile)
2g.165374784C>GCA349030642SCN2Ac.4072C>G (p.Leu1358Val)
c.*2391C>G (n.*2391C>G)
c.*2059C>G (n.*2059C>G)
c.*4595C>G (n.*4595C>G)
c.*2014C>G (n.*2014C>G)
c.3676C>G (p.Leu1226Val)
n.7140C>G
c.4042C>G (p.Leu1348Val)
c.3319C>G (p.Leu1107Val)
c.1870C>G (p.Leu624Val)
2g.165374784C>TCA349030649SCN2Ac.4072C>T (p.Leu1358Phe)
c.*2391C>T (n.*2391C>T)
c.*2059C>T (n.*2059C>T)
c.*4595C>T (n.*4595C>T)
c.*2014C>T (n.*2014C>T)
c.3676C>T (p.Leu1226Phe)
n.7140C>T
c.4042C>T (p.Leu1348Phe)
c.3319C>T (p.Leu1107Phe)
c.1870C>T (p.Leu624Phe)
 COSMIC COSMIC
2g.165374785T>ACA349030651SCN2Ac.4073T>A (p.Leu1358His)
c.*2392T>A (n.*2392T>A)
c.*2060T>A (n.*2060T>A)
c.*4596T>A (n.*4596T>A)
c.*2015T>A (n.*2015T>A)
c.3677T>A (p.Leu1226His)
n.7141T>A
c.4043T>A (p.Leu1348His)
c.3320T>A (p.Leu1107His)
c.1871T>A (p.Leu624His)
2g.165374785T>CCA349030654SCN2Ac.4073T>C (p.Leu1358Pro)
c.*2392T>C (n.*2392T>C)
c.*2060T>C (n.*2060T>C)
c.*4596T>C (n.*4596T>C)
c.*2015T>C (n.*2015T>C)
c.3677T>C (p.Leu1226Pro)
n.7141T>C
c.4043T>C (p.Leu1348Pro)
c.3320T>C (p.Leu1107Pro)
c.1871T>C (p.Leu624Pro)
2g.165374785T>GCA349030656SCN2Ac.4073T>G (p.Leu1358Arg)
c.*2392T>G (n.*2392T>G)
c.*2060T>G (n.*2060T>G)
c.*4596T>G (n.*4596T>G)
c.*2015T>G (n.*2015T>G)
c.3677T>G (p.Leu1226Arg)
n.7141T>G
c.4043T>G (p.Leu1348Arg)
c.3320T>G (p.Leu1107Arg)
c.1871T>G (p.Leu624Arg)
2g.165374786C>ACA429886693SCN2Ac.4074C>A (p.Leu1358=)
c.*2393C>A (n.*2393C>A)
c.*2061C>A (n.*2061C>A)
c.*4597C>A (n.*4597C>A)
c.*2016C>A (n.*2016C>A)
c.3678C>A (p.Leu1226=)
n.7142C>A
c.4044C>A (p.Leu1348=)
c.3321C>A (p.Leu1107=)
c.1872C>A (p.Leu624=)
2g.165374786C>GCA429886694SCN2Ac.4074C>G (p.Leu1358=)
c.*2393C>G (n.*2393C>G)
c.*2061C>G (n.*2061C>G)
c.*4597C>G (n.*4597C>G)
c.*2016C>G (n.*2016C>G)
c.3678C>G (p.Leu1226=)
n.7142C>G
c.4044C>G (p.Leu1348=)
c.3321C>G (p.Leu1107=)
c.1872C>G (p.Leu624=)
2g.165374786C>TCA429886695SCN2Ac.4074C>T (p.Leu1358=)
c.*2393C>T (n.*2393C>T)
c.*2061C>T (n.*2061C>T)
c.*4597C>T (n.*4597C>T)
c.*2016C>T (n.*2016C>T)
c.3678C>T (p.Leu1226=)
n.7142C>T
c.4044C>T (p.Leu1348=)
c.3321C>T (p.Leu1107=)
c.1872C>T (p.Leu624=)
2g.165374787T>ACA349030657SCN2Ac.4075T>A (p.Phe1359Ile)
c.*2394T>A (n.*2394T>A)
c.*2062T>A (n.*2062T>A)
c.*4598T>A (n.*4598T>A)
c.*2017T>A (n.*2017T>A)
c.3679T>A (p.Phe1227Ile)
n.7143T>A
c.4045T>A (p.Phe1349Ile)
c.3322T>A (p.Phe1108Ile)
c.1873T>A (p.Phe625Ile)
2g.165374787T>CCA349030658SCN2Ac.4075T>C (p.Phe1359Leu)
c.*2394T>C (n.*2394T>C)
c.*2062T>C (n.*2062T>C)
c.*4598T>C (n.*4598T>C)
c.*2017T>C (n.*2017T>C)
c.3679T>C (p.Phe1227Leu)
n.7143T>C
c.4045T>C (p.Phe1349Leu)
c.3322T>C (p.Phe1108Leu)
c.1873T>C (p.Phe625Leu)
 gnomAD v4
2g.165374787T>GCA349030659SCN2Ac.4075T>G (p.Phe1359Val)
c.*2394T>G (n.*2394T>G)
c.*2062T>G (n.*2062T>G)
c.*4598T>G (n.*4598T>G)
c.*2017T>G (n.*2017T>G)
c.3679T>G (p.Phe1227Val)
n.7143T>G
c.4045T>G (p.Phe1349Val)
c.3322T>G (p.Phe1108Val)
c.1873T>G (p.Phe625Val)
2g.165374788T>ACA349030660SCN2Ac.4076T>A (p.Phe1359Tyr)
c.*2395T>A (n.*2395T>A)
c.*2063T>A (n.*2063T>A)
c.*4599T>A (n.*4599T>A)
c.*2018T>A (n.*2018T>A)
c.3680T>A (p.Phe1227Tyr)
n.7144T>A
c.4046T>A (p.Phe1349Tyr)
c.3323T>A (p.Phe1108Tyr)
c.1874T>A (p.Phe625Tyr)
2g.165374788T>CCA349030661SCN2Ac.4076T>C (p.Phe1359Ser)
c.*2395T>C (n.*2395T>C)
c.*2063T>C (n.*2063T>C)
c.*4599T>C (n.*4599T>C)
c.*2018T>C (n.*2018T>C)
c.3680T>C (p.Phe1227Ser)
n.7144T>C
c.4046T>C (p.Phe1349Ser)
c.3323T>C (p.Phe1108Ser)
c.1874T>C (p.Phe625Ser)
2g.165374788T>GCA349030662SCN2Ac.4076T>G (p.Phe1359Cys)
c.*2395T>G (n.*2395T>G)
c.*2063T>G (n.*2063T>G)
c.*4599T>G (n.*4599T>G)
c.*2018T>G (n.*2018T>G)
c.3680T>G (p.Phe1227Cys)
n.7144T>G
c.4046T>G (p.Phe1349Cys)
c.3323T>G (p.Phe1108Cys)
c.1874T>G (p.Phe625Cys)
2g.165374789T>ACA349030665SCN2Ac.4077T>A (p.Phe1359Leu)
c.*2396T>A (n.*2396T>A)
c.*2064T>A (n.*2064T>A)
c.*4600T>A (n.*4600T>A)
c.*2019T>A (n.*2019T>A)
c.3681T>A (p.Phe1227Leu)
n.7145T>A
c.4047T>A (p.Phe1349Leu)
c.3324T>A (p.Phe1108Leu)
c.1875T>A (p.Phe625Leu)
2g.165374789T>CCA429886696SCN2Ac.4077T>C (p.Phe1359=)
c.*2396T>C (n.*2396T>C)
c.*2064T>C (n.*2064T>C)
c.*4600T>C (n.*4600T>C)
c.*2019T>C (n.*2019T>C)
c.3681T>C (p.Phe1227=)
n.7145T>C
c.4047T>C (p.Phe1349=)
c.3324T>C (p.Phe1108=)
c.1875T>C (p.Phe625=)
2g.165374789T>GCA349030673SCN2Ac.4077T>G (p.Phe1359Leu)
c.*2396T>G (n.*2396T>G)
c.*2064T>G (n.*2064T>G)
c.*4600T>G (n.*4600T>G)
c.*2019T>G (n.*2019T>G)
c.3681T>G (p.Phe1227Leu)
n.7145T>G
c.4047T>G (p.Phe1349Leu)
c.3324T>G (p.Phe1108Leu)
c.1875T>G (p.Phe625Leu)
2g.165374790G>ACA349030681SCN2Ac.4078G>A (p.Ala1360Thr)
c.*2397G>A (n.*2397G>A)
c.*2065G>A (n.*2065G>A)
c.*4601G>A (n.*4601G>A)
c.*2020G>A (n.*2020G>A)
c.3682G>A (p.Ala1228Thr)
n.7146G>A
c.4048G>A (p.Ala1350Thr)
c.3325G>A (p.Ala1109Thr)
c.1876G>A (p.Ala626Thr)
2g.165374790G>CCA349030678SCN2Ac.4078G>C (p.Ala1360Pro)
c.*2397G>C (n.*2397G>C)
c.*2065G>C (n.*2065G>C)
c.*4601G>C (n.*4601G>C)
c.*2020G>C (n.*2020G>C)
c.3682G>C (p.Ala1228Pro)
n.7146G>C
c.4048G>C (p.Ala1350Pro)
c.3325G>C (p.Ala1109Pro)
c.1876G>C (p.Ala626Pro)
2g.165374790G>TCA349030676SCN2Ac.4078G>T (p.Ala1360Ser)
c.*2397G>T (n.*2397G>T)
c.*2065G>T (n.*2065G>T)
c.*4601G>T (n.*4601G>T)
c.*2020G>T (n.*2020G>T)
c.3682G>T (p.Ala1228Ser)
n.7146G>T
c.4048G>T (p.Ala1350Ser)
c.3325G>T (p.Ala1109Ser)
c.1876G>T (p.Ala626Ser)
2g.165374791C>ACA349030684SCN2Ac.4079C>A (p.Ala1360Asp)
c.*2398C>A (n.*2398C>A)
c.*2066C>A (n.*2066C>A)
c.*4602C>A (n.*4602C>A)
c.*2021C>A (n.*2021C>A)
c.3683C>A (p.Ala1228Asp)
n.7147C>A
c.4049C>A (p.Ala1350Asp)
c.3326C>A (p.Ala1109Asp)
c.1877C>A (p.Ala626Asp)
2g.165374791C>GCA349030687SCN2Ac.4079C>G (p.Ala1360Gly)
c.*2398C>G (n.*2398C>G)
c.*2066C>G (n.*2066C>G)
c.*4602C>G (n.*4602C>G)
c.*2021C>G (n.*2021C>G)
c.3683C>G (p.Ala1228Gly)
n.7147C>G
c.4049C>G (p.Ala1350Gly)
c.3326C>G (p.Ala1109Gly)
c.1877C>G (p.Ala626Gly)
2g.165374791C>TCA349030689SCN2Ac.4079C>T (p.Ala1360Val)
c.*2398C>T (n.*2398C>T)
c.*2066C>T (n.*2066C>T)
c.*4602C>T (n.*4602C>T)
c.*2021C>T (n.*2021C>T)
c.3683C>T (p.Ala1228Val)
n.7147C>T
c.4049C>T (p.Ala1350Val)
c.3326C>T (p.Ala1109Val)
c.1877C>T (p.Ala626Val)
2g.165374792T>ACA429886697SCN2Ac.4080T>A (p.Ala1360=)
c.*2399T>A (n.*2399T>A)
c.*2067T>A (n.*2067T>A)
c.*4603T>A (n.*4603T>A)
c.*2022T>A (n.*2022T>A)
c.3684T>A (p.Ala1228=)
n.7148T>A
c.4050T>A (p.Ala1350=)
c.3327T>A (p.Ala1109=)
c.1878T>A (p.Ala626=)
2g.165374792T>CCA429886699SCN2Ac.4080T>C (p.Ala1360=)
c.*2399T>C (n.*2399T>C)
c.*2067T>C (n.*2067T>C)
c.*4603T>C (n.*4603T>C)
c.*2022T>C (n.*2022T>C)
c.3684T>C (p.Ala1228=)
n.7148T>C
c.4050T>C (p.Ala1350=)
c.3327T>C (p.Ala1109=)
c.1878T>C (p.Ala626=)
 gnomAD v4
2g.165374792T>GCA429886698SCN2Ac.4080T>G (p.Ala1360=)
c.*2399T>G (n.*2399T>G)
c.*2067T>G (n.*2067T>G)
c.*4603T>G (n.*4603T>G)
c.*2022T>G (n.*2022T>G)
c.3684T>G (p.Ala1228=)
n.7148T>G
c.4050T>G (p.Ala1350=)
c.3327T>G (p.Ala1109=)
c.1878T>G (p.Ala626=)
2g.165374793G>ACA349030693SCN2Ac.4081G>A (p.Gly1361Ser)
c.*2400G>A (n.*2400G>A)
c.*2068G>A (n.*2068G>A)
c.*4604G>A (n.*4604G>A)
c.*2023G>A (n.*2023G>A)
c.3685G>A (p.Gly1229Ser)
n.7149G>A
c.4051G>A (p.Gly1351Ser)
c.3328G>A (p.Gly1110Ser)
c.1879G>A (p.Gly627Ser)
2g.165374793G>CCA349030696SCN2Ac.4081G>C (p.Gly1361Arg)
c.*2400G>C (n.*2400G>C)
c.*2068G>C (n.*2068G>C)
c.*4604G>C (n.*4604G>C)
c.*2023G>C (n.*2023G>C)
c.3685G>C (p.Gly1229Arg)
n.7149G>C
c.4051G>C (p.Gly1351Arg)
c.3328G>C (p.Gly1110Arg)
c.1879G>C (p.Gly627Arg)
2g.165374793G>TCA349030698SCN2Ac.4081G>T (p.Gly1361Cys)
c.*2400G>T (n.*2400G>T)
c.*2068G>T (n.*2068G>T)
c.*4604G>T (n.*4604G>T)
c.*2023G>T (n.*2023G>T)
c.3685G>T (p.Gly1229Cys)
n.7149G>T
c.4051G>T (p.Gly1351Cys)
c.3328G>T (p.Gly1110Cys)
c.1879G>T (p.Gly627Cys)
2g.165374794G>ACA349030702SCN2Ac.4082G>A (p.Gly1361Asp)
c.*2401G>A (n.*2401G>A)
c.*2069G>A (n.*2069G>A)
c.*4605G>A (n.*4605G>A)
c.*2024G>A (n.*2024G>A)
c.3686G>A (p.Gly1229Asp)
n.7150G>A
c.4052G>A (p.Gly1351Asp)
c.3329G>A (p.Gly1110Asp)
c.1880G>A (p.Gly627Asp)
 ClinVar dbSNP
2g.165374794G>CCA349030705SCN2Ac.4082G>C (p.Gly1361Ala)
c.*2401G>C (n.*2401G>C)
c.*2069G>C (n.*2069G>C)
c.*4605G>C (n.*4605G>C)
c.*2024G>C (n.*2024G>C)
c.3686G>C (p.Gly1229Ala)
n.7150G>C
c.4052G>C (p.Gly1351Ala)
c.3329G>C (p.Gly1110Ala)
c.1880G>C (p.Gly627Ala)
2g.165374794G=CA1304559760SCN2Ac.4082G= (p.Gly1361=)
c.*2401G= (n.*2401G=)
c.*2069G= (n.*2069G=)
c.*4605G= (n.*4605G=)
c.*2024G= (n.*2024G=)
c.3686G= (p.Gly1229=)
n.7150G=
c.4052G= (p.Gly1351=)
c.3329G= (p.Gly1110=)
c.1880G= (p.Gly627=)
2g.165374794G>TCA349030707SCN2Ac.4082G>T (p.Gly1361Val)
c.*2401G>T (n.*2401G>T)
c.*2069G>T (n.*2069G>T)
c.*4605G>T (n.*4605G>T)
c.*2024G>T (n.*2024G>T)
c.3686G>T (p.Gly1229Val)
n.7150G>T
c.4052G>T (p.Gly1351Val)
c.3329G>T (p.Gly1110Val)
c.1880G>T (p.Gly627Val)
2g.165374795C>ACA429886700SCN2Ac.4083C>A (p.Gly1361=)
c.*2402C>A (n.*2402C>A)
c.*2070C>A (n.*2070C>A)
c.*4606C>A (n.*4606C>A)
c.*2025C>A (n.*2025C>A)
c.3687C>A (p.Gly1229=)
n.7151C>A
c.4053C>A (p.Gly1351=)
c.3330C>A (p.Gly1110=)
c.1881C>A (p.Gly627=)
2g.165374795C>GCA429886701SCN2Ac.4083C>G (p.Gly1361=)
c.*2402C>G (n.*2402C>G)
c.*2070C>G (n.*2070C>G)
c.*4606C>G (n.*4606C>G)
c.*2025C>G (n.*2025C>G)
c.3687C>G (p.Gly1229=)
n.7151C>G
c.4053C>G (p.Gly1351=)
c.3330C>G (p.Gly1110=)
c.1881C>G (p.Gly627=)
2g.165374795C>TCA429886702SCN2Ac.4083C>T (p.Gly1361=)
c.*2402C>T (n.*2402C>T)
c.*2070C>T (n.*2070C>T)
c.*4606C>T (n.*4606C>T)
c.*2025C>T (n.*2025C>T)
c.3687C>T (p.Gly1229=)
n.7151C>T
c.4053C>T (p.Gly1351=)
c.3330C>T (p.Gly1110=)
c.1881C>T (p.Gly627=)
2g.165374796A=CA1304559761SCN2Ac.4084A= (p.Lys1362=)
c.*2403A= (n.*2403A=)
c.*2071A= (n.*2071A=)
c.*4607A= (n.*4607A=)
c.*2026A= (n.*2026A=)
c.3688A= (p.Lys1230=)
n.7152A=
c.4054A= (p.Lys1352=)
c.3331A= (p.Lys1111=)
c.1882A= (p.Lys628=)
2g.165374796A>CCA349030709SCN2Ac.4084A>C (p.Lys1362Gln)
c.*2403A>C (n.*2403A>C)
c.*2071A>C (n.*2071A>C)
c.*4607A>C (n.*4607A>C)
c.*2026A>C (n.*2026A>C)
c.3688A>C (p.Lys1230Gln)
n.7152A>C
c.4054A>C (p.Lys1352Gln)
c.3331A>C (p.Lys1111Gln)
c.1882A>C (p.Lys628Gln)
 gnomAD v4
2g.165374796A>GCA349030712SCN2Ac.4084A>G (p.Lys1362Glu)
c.*2403A>G (n.*2403A>G)
c.*2071A>G (n.*2071A>G)
c.*4607A>G (n.*4607A>G)
c.*2026A>G (n.*2026A>G)
c.3688A>G (p.Lys1230Glu)
n.7152A>G
c.4054A>G (p.Lys1352Glu)
c.3331A>G (p.Lys1111Glu)
c.1882A>G (p.Lys628Glu)
2g.165374796A>TCA349030713SCN2Ac.4084A>T (p.Lys1362Ter)
c.*2403A>T (n.*2403A>T)
c.*2071A>T (n.*2071A>T)
c.*4607A>T (n.*4607A>T)
c.*2026A>T (n.*2026A>T)
c.3688A>T (p.Lys1230Ter)
n.7152A>T
c.4054A>T (p.Lys1352Ter)
c.3331A>T (p.Lys1111Ter)
c.1882A>T (p.Lys628Ter)
 dbSNP
2g.165374797A>CCA349030722SCN2Ac.4085A>C (p.Lys1362Thr)
c.*2404A>C (n.*2404A>C)
c.*2072A>C (n.*2072A>C)
c.*4608A>C (n.*4608A>C)
c.*2027A>C (n.*2027A>C)
c.3689A>C (p.Lys1230Thr)
n.7153A>C
c.4055A>C (p.Lys1352Thr)
c.3332A>C (p.Lys1111Thr)
c.1883A>C (p.Lys628Thr)
2g.165374797A>GCA349030719SCN2Ac.4085A>G (p.Lys1362Arg)
c.*2404A>G (n.*2404A>G)
c.*2072A>G (n.*2072A>G)
c.*4608A>G (n.*4608A>G)
c.*2027A>G (n.*2027A>G)
c.3689A>G (p.Lys1230Arg)
n.7153A>G
c.4055A>G (p.Lys1352Arg)
c.3332A>G (p.Lys1111Arg)
c.1883A>G (p.Lys628Arg)
2g.165374797A>TCA349030718SCN2Ac.4085A>T (p.Lys1362Met)
c.*2404A>T (n.*2404A>T)
c.*2072A>T (n.*2072A>T)
c.*4608A>T (n.*4608A>T)
c.*2027A>T (n.*2027A>T)
c.3689A>T (p.Lys1230Met)
n.7153A>T
c.4055A>T (p.Lys1352Met)
c.3332A>T (p.Lys1111Met)
c.1883A>T (p.Lys628Met)
2g.165374798G>ACA429886703SCN2Ac.4086G>A (p.Lys1362=)
c.*2405G>A (n.*2405G>A)
c.*2073G>A (n.*2073G>A)
c.*4609G>A (n.*4609G>A)
c.*2028G>A (n.*2028G>A)
c.3690G>A (p.Lys1230=)
n.7154G>A
c.4056G>A (p.Lys1352=)
c.3333G>A (p.Lys1111=)
c.1884G>A (p.Lys628=)
 dbSNP gnomAD v4
2g.165374798G>CCA349030725SCN2Ac.4086G>C (p.Lys1362Asn)
c.*2405G>C (n.*2405G>C)
c.*2073G>C (n.*2073G>C)
c.*4609G>C (n.*4609G>C)
c.*2028G>C (n.*2028G>C)
c.3690G>C (p.Lys1230Asn)
n.7154G>C
c.4056G>C (p.Lys1352Asn)
c.3333G>C (p.Lys1111Asn)
c.1884G>C (p.Lys628Asn)
2g.165374798G=CA1304559763SCN2Ac.4086G= (p.Lys1362=)
c.*2405G= (n.*2405G=)
c.*2073G= (n.*2073G=)
c.*4609G= (n.*4609G=)
c.*2028G= (n.*2028G=)
c.3690G= (p.Lys1230=)
n.7154G=
c.4056G= (p.Lys1352=)
c.3333G= (p.Lys1111=)
c.1884G= (p.Lys628=)
2g.165374798G>TCA349030728SCN2Ac.4086G>T (p.Lys1362Asn)
c.*2405G>T (n.*2405G>T)
c.*2073G>T (n.*2073G>T)
c.*4609G>T (n.*4609G>T)
c.*2028G>T (n.*2028G>T)
c.3690G>T (p.Lys1230Asn)
n.7154G>T
c.4056G>T (p.Lys1352Asn)
c.3333G>T (p.Lys1111Asn)
c.1884G>T (p.Lys628Asn)
2g.165374799T>ACA349030741SCN2Ac.4087T>A (p.Phe1363Ile)
c.*2406T>A (n.*2406T>A)
c.*2074T>A (n.*2074T>A)
c.*4610T>A (n.*4610T>A)
c.*2029T>A (n.*2029T>A)
c.3691T>A (p.Phe1231Ile)
n.7155T>A
c.4057T>A (p.Phe1353Ile)
c.3334T>A (p.Phe1112Ile)
c.1885T>A (p.Phe629Ile)
2g.165374799T>CCA349030745SCN2Ac.4087T>C (p.Phe1363Leu)
c.*2406T>C (n.*2406T>C)
c.*2074T>C (n.*2074T>C)
c.*4610T>C (n.*4610T>C)
c.*2029T>C (n.*2029T>C)
c.3691T>C (p.Phe1231Leu)
n.7155T>C
c.4057T>C (p.Phe1353Leu)
c.3334T>C (p.Phe1112Leu)
c.1885T>C (p.Phe629Leu)
2g.165374799T>GCA349030749SCN2Ac.4087T>G (p.Phe1363Val)
c.*2406T>G (n.*2406T>G)
c.*2074T>G (n.*2074T>G)
c.*4610T>G (n.*4610T>G)
c.*2029T>G (n.*2029T>G)
c.3691T>G (p.Phe1231Val)
n.7155T>G
c.4057T>G (p.Phe1353Val)
c.3334T>G (p.Phe1112Val)
c.1885T>G (p.Phe629Val)
2g.165374800T>ACA349030751SCN2Ac.4088T>A (p.Phe1363Tyr)
c.*2407T>A (n.*2407T>A)
c.*2075T>A (n.*2075T>A)
c.*4611T>A (n.*4611T>A)
c.*2030T>A (n.*2030T>A)
c.3692T>A (p.Phe1231Tyr)
n.7156T>A
c.4058T>A (p.Phe1353Tyr)
c.3335T>A (p.Phe1112Tyr)
c.1886T>A (p.Phe629Tyr)
2g.165374800T>CCA349030754SCN2Ac.4088T>C (p.Phe1363Ser)
c.*2407T>C (n.*2407T>C)
c.*2075T>C (n.*2075T>C)
c.*4611T>C (n.*4611T>C)
c.*2030T>C (n.*2030T>C)
c.3692T>C (p.Phe1231Ser)
n.7156T>C
c.4058T>C (p.Phe1353Ser)
c.3335T>C (p.Phe1112Ser)
c.1886T>C (p.Phe629Ser)
2g.165374800T>GCA349030757SCN2Ac.4088T>G (p.Phe1363Cys)
c.*2407T>G (n.*2407T>G)
c.*2075T>G (n.*2075T>G)
c.*4611T>G (n.*4611T>G)
c.*2030T>G (n.*2030T>G)
c.3692T>G (p.Phe1231Cys)
n.7156T>G
c.4058T>G (p.Phe1353Cys)
c.3335T>G (p.Phe1112Cys)
c.1886T>G (p.Phe629Cys)
2g.165374801T>ACA349030759SCN2Ac.4089T>A (p.Phe1363Leu)
c.*2408T>A (n.*2408T>A)
c.*2076T>A (n.*2076T>A)
c.*4612T>A (n.*4612T>A)
c.*2031T>A (n.*2031T>A)
c.3693T>A (p.Phe1231Leu)
n.7157T>A
c.4059T>A (p.Phe1353Leu)
c.3336T>A (p.Phe1112Leu)
c.1887T>A (p.Phe629Leu)
2g.165374801T>CCA429886704SCN2Ac.4089T>C (p.Phe1363=)
c.*2408T>C (n.*2408T>C)
c.*2076T>C (n.*2076T>C)
c.*4612T>C (n.*4612T>C)
c.*2031T>C (n.*2031T>C)
c.3693T>C (p.Phe1231=)
n.7157T>C
c.4059T>C (p.Phe1353=)
c.3336T>C (p.Phe1112=)
c.1887T>C (p.Phe629=)
2g.165374801T>GCA349030763SCN2Ac.4089T>G (p.Phe1363Leu)
c.*2408T>G (n.*2408T>G)
c.*2076T>G (n.*2076T>G)
c.*4612T>G (n.*4612T>G)
c.*2031T>G (n.*2031T>G)
c.3693T>G (p.Phe1231Leu)
n.7157T>G
c.4059T>G (p.Phe1353Leu)
c.3336T>G (p.Phe1112Leu)
c.1887T>G (p.Phe629Leu)
2g.165374802T>ACA349030766SCN2Ac.4090T>A (p.Tyr1364Asn)
c.*2409T>A (n.*2409T>A)
c.*2077T>A (n.*2077T>A)
c.*4613T>A (n.*4613T>A)
c.*2032T>A (n.*2032T>A)
c.3694T>A (p.Tyr1232Asn)
n.7158T>A
c.4060T>A (p.Tyr1354Asn)
c.3337T>A (p.Tyr1113Asn)
c.1888T>A (p.Tyr630Asn)
2g.165374802T>CCA349030769SCN2Ac.4090T>C (p.Tyr1364His)
c.*2409T>C (n.*2409T>C)
c.*2077T>C (n.*2077T>C)
c.*4613T>C (n.*4613T>C)
c.*2032T>C (n.*2032T>C)
c.3694T>C (p.Tyr1232His)
n.7158T>C
c.4060T>C (p.Tyr1354His)
c.3337T>C (p.Tyr1113His)
c.1888T>C (p.Tyr630His)
 gnomAD v4
2g.165374802T>GCA349030772SCN2Ac.4090T>G (p.Tyr1364Asp)
c.*2409T>G (n.*2409T>G)
c.*2077T>G (n.*2077T>G)
c.*4613T>G (n.*4613T>G)
c.*2032T>G (n.*2032T>G)
c.3694T>G (p.Tyr1232Asp)
n.7158T>G
c.4060T>G (p.Tyr1354Asp)
c.3337T>G (p.Tyr1113Asp)
c.1888T>G (p.Tyr630Asp)
2g.165374803A=CA1304559767SCN2Ac.4091A= (p.Tyr1364=)
c.*2410A= (n.*2410A=)
c.*2078A= (n.*2078A=)
c.*4614A= (n.*4614A=)
c.*2033A= (n.*2033A=)
c.3695A= (p.Tyr1232=)
n.7159A=
c.4061A= (p.Tyr1354=)
c.3338A= (p.Tyr1113=)
c.1889A= (p.Tyr630=)
2g.165374803A>CCA349030776SCN2Ac.4091A>C (p.Tyr1364Ser)
c.*2410A>C (n.*2410A>C)
c.*2078A>C (n.*2078A>C)
c.*4614A>C (n.*4614A>C)
c.*2033A>C (n.*2033A>C)
c.3695A>C (p.Tyr1232Ser)
n.7159A>C
c.4061A>C (p.Tyr1354Ser)
c.3338A>C (p.Tyr1113Ser)
c.1889A>C (p.Tyr630Ser)
2g.165374803A>GCA59741898SCN2Ac.4091A>G (p.Tyr1364Cys)
c.*2410A>G (n.*2410A>G)
c.*2078A>G (n.*2078A>G)
c.*4614A>G (n.*4614A>G)
c.*2033A>G (n.*2033A>G)
c.3695A>G (p.Tyr1232Cys)
n.7159A>G
c.4061A>G (p.Tyr1354Cys)
c.3338A>G (p.Tyr1113Cys)
c.1889A>G (p.Tyr630Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.165374803A>TCA349030779SCN2Ac.4091A>T (p.Tyr1364Phe)
c.*2410A>T (n.*2410A>T)
c.*2078A>T (n.*2078A>T)
c.*4614A>T (n.*4614A>T)
c.*2033A>T (n.*2033A>T)
c.3695A>T (p.Tyr1232Phe)
n.7159A>T
c.4061A>T (p.Tyr1354Phe)
c.3338A>T (p.Tyr1113Phe)
c.1889A>T (p.Tyr630Phe)
2g.165374804C>ACA349030784SCN2Ac.4092C>A (p.Tyr1364Ter)
c.*2411C>A (n.*2411C>A)
c.*2079C>A (n.*2079C>A)
c.*4615C>A (n.*4615C>A)
c.*2034C>A (n.*2034C>A)
c.3696C>A (p.Tyr1232Ter)
n.7160C>A
c.4062C>A (p.Tyr1354Ter)
c.3339C>A (p.Tyr1113Ter)
c.1890C>A (p.Tyr630Ter)
2g.165374804C=CA1304559772SCN2Ac.4092C= (p.Tyr1364=)
c.*2411C= (n.*2411C=)
c.*2079C= (n.*2079C=)
c.*4615C= (n.*4615C=)
c.*2034C= (n.*2034C=)
c.3696C= (p.Tyr1232=)
n.7160C=
c.4062C= (p.Tyr1354=)
c.3339C= (p.Tyr1113=)
c.1890C= (p.Tyr630=)
2g.165374804C>GCA349030789SCN2Ac.4092C>G (p.Tyr1364Ter)
c.*2411C>G (n.*2411C>G)
c.*2079C>G (n.*2079C>G)
c.*4615C>G (n.*4615C>G)
c.*2034C>G (n.*2034C>G)
c.3696C>G (p.Tyr1232Ter)
n.7160C>G
c.4062C>G (p.Tyr1354Ter)
c.3339C>G (p.Tyr1113Ter)
c.1890C>G (p.Tyr630Ter)
2g.165374804C>TCA1940219SCN2Ac.4092C>T (p.Tyr1364=)
c.*2411C>T (n.*2411C>T)
c.*2079C>T (n.*2079C>T)
c.*4615C>T (n.*4615C>T)
c.*2034C>T (n.*2034C>T)
c.3696C>T (p.Tyr1232=)
n.7160C>T
c.4062C>T (p.Tyr1354=)
c.3339C>T (p.Tyr1113=)
c.1890C>T (p.Tyr630=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165374805C>ACA349030793SCN2Ac.4093C>A (p.His1365Asn)
c.*2412C>A (n.*2412C>A)
c.*2080C>A (n.*2080C>A)
c.*4616C>A (n.*4616C>A)
c.*2035C>A (n.*2035C>A)
c.3697C>A (p.His1233Asn)
n.7161C>A
c.4063C>A (p.His1355Asn)
c.3340C>A (p.His1114Asn)
c.1891C>A (p.His631Asn)
2g.165374805C>GCA349030795SCN2Ac.4093C>G (p.His1365Asp)
c.*2412C>G (n.*2412C>G)
c.*2080C>G (n.*2080C>G)
c.*4616C>G (n.*4616C>G)
c.*2035C>G (n.*2035C>G)
c.3697C>G (p.His1233Asp)
n.7161C>G
c.4063C>G (p.His1355Asp)
c.3340C>G (p.His1114Asp)
c.1891C>G (p.His631Asp)
2g.165374805C>TCA349030799SCN2Ac.4093C>T (p.His1365Tyr)
c.*2412C>T (n.*2412C>T)
c.*2080C>T (n.*2080C>T)
c.*4616C>T (n.*4616C>T)
c.*2035C>T (n.*2035C>T)
c.3697C>T (p.His1233Tyr)
n.7161C>T
c.4063C>T (p.His1355Tyr)
c.3340C>T (p.His1114Tyr)
c.1891C>T (p.His631Tyr)
2g.165374806A=CA1304559777SCN2Ac.4094A= (p.His1365=)
c.*2413A= (n.*2413A=)
c.*2081A= (n.*2081A=)
c.*4617A= (n.*4617A=)
c.*2036A= (n.*2036A=)
c.3698A= (p.His1233=)
n.7162A=
c.4064A= (p.His1355=)
c.3341A= (p.His1114=)
c.1892A= (p.His631=)
2g.165374806A>CCA349030801SCN2Ac.4094A>C (p.His1365Pro)
c.*2413A>C (n.*2413A>C)
c.*2081A>C (n.*2081A>C)
c.*4617A>C (n.*4617A>C)
c.*2036A>C (n.*2036A>C)
c.3698A>C (p.His1233Pro)
n.7162A>C
c.4064A>C (p.His1355Pro)
c.3341A>C (p.His1114Pro)
c.1892A>C (p.His631Pro)
2g.165374806A>GCA1940220SCN2Ac.4094A>G (p.His1365Arg)
c.*2413A>G (n.*2413A>G)
c.*2081A>G (n.*2081A>G)
c.*4617A>G (n.*4617A>G)
c.*2036A>G (n.*2036A>G)
c.3698A>G (p.His1233Arg)
n.7162A>G
c.4064A>G (p.His1355Arg)
c.3341A>G (p.His1114Arg)
c.1892A>G (p.His631Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165374806A>TCA349030806SCN2Ac.4094A>T (p.His1365Leu)
c.*2413A>T (n.*2413A>T)
c.*2081A>T (n.*2081A>T)
c.*4617A>T (n.*4617A>T)
c.*2036A>T (n.*2036A>T)
c.3698A>T (p.His1233Leu)
n.7162A>T
c.4064A>T (p.His1355Leu)
c.3341A>T (p.His1114Leu)
c.1892A>T (p.His631Leu)
2g.165374807T>ACA349030810SCN2Ac.4095T>A (p.His1365Gln)
c.*2414T>A (n.*2414T>A)
c.*2082T>A (n.*2082T>A)
c.*4618T>A (n.*4618T>A)
c.*2037T>A (n.*2037T>A)
c.3699T>A (p.His1233Gln)
n.7163T>A
c.4065T>A (p.His1355Gln)
c.3342T>A (p.His1114Gln)
c.1893T>A (p.His631Gln)
2g.165374807T>CCA429886705SCN2Ac.4095T>C (p.His1365=)
c.*2414T>C (n.*2414T>C)
c.*2082T>C (n.*2082T>C)
c.*4618T>C (n.*4618T>C)
c.*2037T>C (n.*2037T>C)
c.3699T>C (p.His1233=)
n.7163T>C
c.4065T>C (p.His1355=)
c.3342T>C (p.His1114=)
c.1893T>C (p.His631=)
 ClinVar dbSNP gnomAD v4
2g.165374807T>GCA349030815SCN2Ac.4095T>G (p.His1365Gln)
c.*2414T>G (n.*2414T>G)
c.*2082T>G (n.*2082T>G)
c.*4618T>G (n.*4618T>G)
c.*2037T>G (n.*2037T>G)
c.3699T>G (p.His1233Gln)
n.7163T>G
c.4065T>G (p.His1355Gln)
c.3342T>G (p.His1114Gln)
c.1893T>G (p.His631Gln)
 ClinVar gnomAD v4
2g.165374808T>ACA349030820SCN2Ac.4096T>A (p.Cys1366Ser)
c.*2415T>A (n.*2415T>A)
c.*2083T>A (n.*2083T>A)
c.*4619T>A (n.*4619T>A)
c.*2038T>A (n.*2038T>A)
c.3700T>A (p.Cys1234Ser)
n.7164T>A
c.4066T>A (p.Cys1356Ser)
c.3343T>A (p.Cys1115Ser)
c.1894T>A (p.Cys632Ser)
2g.165374808T>CCA349030822SCN2Ac.4096T>C (p.Cys1366Arg)
c.*2415T>C (n.*2415T>C)
c.*2083T>C (n.*2083T>C)
c.*4619T>C (n.*4619T>C)
c.*2038T>C (n.*2038T>C)
c.3700T>C (p.Cys1234Arg)
n.7164T>C
c.4066T>C (p.Cys1356Arg)
c.3343T>C (p.Cys1115Arg)
c.1894T>C (p.Cys632Arg)
 ClinVar
2g.165374808T>GCA349030818SCN2Ac.4096T>G (p.Cys1366Gly)
c.*2415T>G (n.*2415T>G)
c.*2083T>G (n.*2083T>G)
c.*4619T>G (n.*4619T>G)
c.*2038T>G (n.*2038T>G)
c.3700T>G (p.Cys1234Gly)
n.7164T>G
c.4066T>G (p.Cys1356Gly)
c.3343T>G (p.Cys1115Gly)
c.1894T>G (p.Cys632Gly)
2g.165374809G>ACA349030831SCN2Ac.4097G>A (p.Cys1366Tyr)
c.*2416G>A (n.*2416G>A)
c.*2084G>A (n.*2084G>A)
c.*4620G>A (n.*4620G>A)
c.*2039G>A (n.*2039G>A)
c.3701G>A (p.Cys1234Tyr)
n.7165G>A
c.4067G>A (p.Cys1356Tyr)
c.3344G>A (p.Cys1115Tyr)
c.1895G>A (p.Cys632Tyr)
2g.165374809G>CCA349030825SCN2Ac.4097G>C (p.Cys1366Ser)
c.*2416G>C (n.*2416G>C)
c.*2084G>C (n.*2084G>C)
c.*4620G>C (n.*4620G>C)
c.*2039G>C (n.*2039G>C)
c.3701G>C (p.Cys1234Ser)
n.7165G>C
c.4067G>C (p.Cys1356Ser)
c.3344G>C (p.Cys1115Ser)
c.1895G>C (p.Cys632Ser)
2g.165374809G>TCA349030830SCN2Ac.4097G>T (p.Cys1366Phe)
c.*2416G>T (n.*2416G>T)
c.*2084G>T (n.*2084G>T)
c.*4620G>T (n.*4620G>T)
c.*2039G>T (n.*2039G>T)
c.3701G>T (p.Cys1234Phe)
n.7165G>T
c.4067G>T (p.Cys1356Phe)
c.3344G>T (p.Cys1115Phe)
c.1895G>T (p.Cys632Phe)
2g.165374810T>ACA349030832SCN2Ac.4098T>A (p.Cys1366Ter)
c.*2417T>A (n.*2417T>A)
c.*2085T>A (n.*2085T>A)
c.*4621T>A (n.*4621T>A)
c.*2040T>A (n.*2040T>A)
c.3702T>A (p.Cys1234Ter)
n.7166T>A
c.4068T>A (p.Cys1356Ter)
c.3345T>A (p.Cys1115Ter)
c.1896T>A (p.Cys632Ter)
 dbSNP
2g.165374810T>CCA429886708SCN2Ac.4098T>C (p.Cys1366=)
c.*2417T>C (n.*2417T>C)
c.*2085T>C (n.*2085T>C)
c.*4621T>C (n.*4621T>C)
c.*2040T>C (n.*2040T>C)
c.3702T>C (p.Cys1234=)
n.7166T>C
c.4068T>C (p.Cys1356=)
c.3345T>C (p.Cys1115=)
c.1896T>C (p.Cys632=)
2g.165374810T>GCA349030833SCN2Ac.4098T>G (p.Cys1366Trp)
c.*2417T>G (n.*2417T>G)
c.*2085T>G (n.*2085T>G)
c.*4621T>G (n.*4621T>G)
c.*2040T>G (n.*2040T>G)
c.3702T>G (p.Cys1234Trp)
n.7166T>G
c.4068T>G (p.Cys1356Trp)
c.3345T>G (p.Cys1115Trp)
c.1896T>G (p.Cys632Trp)
2g.165374810T=CA1304559781SCN2Ac.4098T= (p.Cys1366=)
c.*2417T= (n.*2417T=)
c.*2085T= (n.*2085T=)
c.*4621T= (n.*4621T=)
c.*2040T= (n.*2040T=)
c.3702T= (p.Cys1234=)
n.7166T=
c.4068T= (p.Cys1356=)
c.3345T= (p.Cys1115=)
c.1896T= (p.Cys632=)
2g.165374811A=CA1304559783SCN2Ac.4099A= (p.Ile1367=)
c.*2418A= (n.*2418A=)
c.*2086A= (n.*2086A=)
c.*4622A= (n.*4622A=)
c.*2041A= (n.*2041A=)
c.3703A= (p.Ile1235=)
n.7167A=
c.4069A= (p.Ile1357=)
c.3346A= (p.Ile1116=)
c.1897A= (p.Ile633=)
2g.165374811A>CCA349030844SCN2Ac.4099A>C (p.Ile1367Leu)
c.*2418A>C (n.*2418A>C)
c.*2086A>C (n.*2086A>C)
c.*4622A>C (n.*4622A>C)
c.*2041A>C (n.*2041A>C)
c.3703A>C (p.Ile1235Leu)
n.7167A>C
c.4069A>C (p.Ile1357Leu)
c.3346A>C (p.Ile1116Leu)
c.1897A>C (p.Ile633Leu)
2g.165374811A>GCA349030847SCN2Ac.4099A>G (p.Ile1367Val)
c.*2418A>G (n.*2418A>G)
c.*2086A>G (n.*2086A>G)
c.*4622A>G (n.*4622A>G)
c.*2041A>G (n.*2041A>G)
c.3703A>G (p.Ile1235Val)
n.7167A>G
c.4069A>G (p.Ile1357Val)
c.3346A>G (p.Ile1116Val)
c.1897A>G (p.Ile633Val)
 dbSNP gnomAD v4
2g.165374811A>TCA349030851SCN2Ac.4099A>T (p.Ile1367Phe)
c.*2418A>T (n.*2418A>T)
c.*2086A>T (n.*2086A>T)
c.*4622A>T (n.*4622A>T)
c.*2041A>T (n.*2041A>T)
c.3703A>T (p.Ile1235Phe)
n.7167A>T
c.4069A>T (p.Ile1357Phe)
c.3346A>T (p.Ile1116Phe)
c.1897A>T (p.Ile633Phe)
2g.165374812T>ACA349030854SCN2Ac.4100T>A (p.Ile1367Asn)
c.*2419T>A (n.*2419T>A)
c.*2087T>A (n.*2087T>A)
c.*4623T>A (n.*4623T>A)
c.*2042T>A (n.*2042T>A)
c.3704T>A (p.Ile1235Asn)
n.7168T>A
c.4070T>A (p.Ile1357Asn)
c.3347T>A (p.Ile1116Asn)
c.1898T>A (p.Ile633Asn)
2g.165374812T>CCA349030855SCN2Ac.4100T>C (p.Ile1367Thr)
c.*2419T>C (n.*2419T>C)
c.*2087T>C (n.*2087T>C)
c.*4623T>C (n.*4623T>C)
c.*2042T>C (n.*2042T>C)
c.3704T>C (p.Ile1235Thr)
n.7168T>C
c.4070T>C (p.Ile1357Thr)
c.3347T>C (p.Ile1116Thr)
c.1898T>C (p.Ile633Thr)
2g.165374812T>GCA349030857SCN2Ac.4100T>G (p.Ile1367Ser)
c.*2419T>G (n.*2419T>G)
c.*2087T>G (n.*2087T>G)
c.*4623T>G (n.*4623T>G)
c.*2042T>G (n.*2042T>G)
c.3704T>G (p.Ile1235Ser)
n.7168T>G
c.4070T>G (p.Ile1357Ser)
c.3347T>G (p.Ile1116Ser)
c.1898T>G (p.Ile633Ser)
2g.165374813T>ACA429886709SCN2Ac.4101T>A (p.Ile1367=)
c.*2420T>A (n.*2420T>A)
c.*2088T>A (n.*2088T>A)
c.*4624T>A (n.*4624T>A)
c.*2043T>A (n.*2043T>A)
c.3705T>A (p.Ile1235=)
n.7169T>A
c.4071T>A (p.Ile1357=)
c.3348T>A (p.Ile1116=)
c.1899T>A (p.Ile633=)
2g.165374813T>CCA429886710SCN2Ac.4101T>C (p.Ile1367=)
c.*2420T>C (n.*2420T>C)
c.*2088T>C (n.*2088T>C)
c.*4624T>C (n.*4624T>C)
c.*2043T>C (n.*2043T>C)
c.3705T>C (p.Ile1235=)
n.7169T>C
c.4071T>C (p.Ile1357=)
c.3348T>C (p.Ile1116=)
c.1899T>C (p.Ile633=)
2g.165374813T>GCA349030860SCN2Ac.4101T>G (p.Ile1367Met)
c.*2420T>G (n.*2420T>G)
c.*2088T>G (n.*2088T>G)
c.*4624T>G (n.*4624T>G)
c.*2043T>G (n.*2043T>G)
c.3705T>G (p.Ile1235Met)
n.7169T>G
c.4071T>G (p.Ile1357Met)
c.3348T>G (p.Ile1116Met)
c.1899T>G (p.Ile633Met)
2g.165374814A=CA1304559785SCN2Ac.4102A= (p.Asn1368=)
c.*2421A= (n.*2421A=)
c.*2089A= (n.*2089A=)
c.*4625A= (n.*4625A=)
c.*2044A= (n.*2044A=)
c.3706A= (p.Asn1236=)
n.7170A=
c.4072A= (p.Asn1358=)
c.3349A= (p.Asn1117=)
c.1900A= (p.Asn634=)
2g.165374814A>CCA349030867SCN2Ac.4102A>C (p.Asn1368His)
c.*2421A>C (n.*2421A>C)
c.*2089A>C (n.*2089A>C)
c.*4625A>C (n.*4625A>C)
c.*2044A>C (n.*2044A>C)
c.3706A>C (p.Asn1236His)
n.7170A>C
c.4072A>C (p.Asn1358His)
c.3349A>C (p.Asn1117His)
c.1900A>C (p.Asn634His)
2g.165374814A>GCA349030865SCN2Ac.4102A>G (p.Asn1368Asp)
c.*2421A>G (n.*2421A>G)
c.*2089A>G (n.*2089A>G)
c.*4625A>G (n.*4625A>G)
c.*2044A>G (n.*2044A>G)
c.3706A>G (p.Asn1236Asp)
n.7170A>G
c.4072A>G (p.Asn1358Asp)
c.3349A>G (p.Asn1117Asp)
c.1900A>G (p.Asn634Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.165374814A>TCA349030861SCN2Ac.4102A>T (p.Asn1368Tyr)
c.*2421A>T (n.*2421A>T)
c.*2089A>T (n.*2089A>T)
c.*4625A>T (n.*4625A>T)
c.*2044A>T (n.*2044A>T)
c.3706A>T (p.Asn1236Tyr)
n.7170A>T
c.4072A>T (p.Asn1358Tyr)
c.3349A>T (p.Asn1117Tyr)
c.1900A>T (p.Asn634Tyr)
2g.165374815A>CCA349030870SCN2Ac.4103A>C (p.Asn1368Thr)
c.*2422A>C (n.*2422A>C)
c.*2090A>C (n.*2090A>C)
c.*4626A>C (n.*4626A>C)
c.*2045A>C (n.*2045A>C)
c.3707A>C (p.Asn1236Thr)
n.7171A>C
c.4073A>C (p.Asn1358Thr)
c.3350A>C (p.Asn1117Thr)
c.1901A>C (p.Asn634Thr)
2g.165374815A>GCA349030873SCN2Ac.4103A>G (p.Asn1368Ser)
c.*2422A>G (n.*2422A>G)
c.*2090A>G (n.*2090A>G)
c.*4626A>G (n.*4626A>G)
c.*2045A>G (n.*2045A>G)
c.3707A>G (p.Asn1236Ser)
n.7171A>G
c.4073A>G (p.Asn1358Ser)
c.3350A>G (p.Asn1117Ser)
c.1901A>G (p.Asn634Ser)
2g.165374815A>TCA349030876SCN2Ac.4103A>T (p.Asn1368Ile)
c.*2422A>T (n.*2422A>T)
c.*2090A>T (n.*2090A>T)
c.*4626A>T (n.*4626A>T)
c.*2045A>T (n.*2045A>T)
c.3707A>T (p.Asn1236Ile)
n.7171A>T
c.4073A>T (p.Asn1358Ile)
c.3350A>T (p.Asn1117Ile)
c.1901A>T (p.Asn634Ile)
2g.165374816T>ACA349030878SCN2Ac.4104T>A (p.Asn1368Lys)
c.*2423T>A (n.*2423T>A)
c.*2091T>A (n.*2091T>A)
c.*4627T>A (n.*4627T>A)
c.*2046T>A (n.*2046T>A)
c.3708T>A (p.Asn1236Lys)
n.7172T>A
c.4074T>A (p.Asn1358Lys)
c.3351T>A (p.Asn1117Lys)
c.1902T>A (p.Asn634Lys)
2g.165374816T>CCA429886711SCN2Ac.4104T>C (p.Asn1368=)
c.*2423T>C (n.*2423T>C)
c.*2091T>C (n.*2091T>C)
c.*4627T>C (n.*4627T>C)
c.*2046T>C (n.*2046T>C)
c.3708T>C (p.Asn1236=)
n.7172T>C
c.4074T>C (p.Asn1358=)
c.3351T>C (p.Asn1117=)
c.1902T>C (p.Asn634=)
2g.165374816T>GCA349030881SCN2Ac.4104T>G (p.Asn1368Lys)
c.*2423T>G (n.*2423T>G)
c.*2091T>G (n.*2091T>G)
c.*4627T>G (n.*4627T>G)
c.*2046T>G (n.*2046T>G)
c.3708T>G (p.Asn1236Lys)
n.7172T>G
c.4074T>G (p.Asn1358Lys)
c.3351T>G (p.Asn1117Lys)
c.1902T>G (p.Asn634Lys)
2g.165374817T>ACA349030883SCN2Ac.4105T>A (p.Tyr1369Asn)
c.*2424T>A (n.*2424T>A)
c.*2092T>A (n.*2092T>A)
c.*4628T>A (n.*4628T>A)
c.*2047T>A (n.*2047T>A)
c.3709T>A (p.Tyr1237Asn)
n.7173T>A
c.4075T>A (p.Tyr1359Asn)
c.3352T>A (p.Tyr1118Asn)
c.1903T>A (p.Tyr635Asn)
2g.165374817T>CCA349030884SCN2Ac.4105T>C (p.Tyr1369His)
c.*2424T>C (n.*2424T>C)
c.*2092T>C (n.*2092T>C)
c.*4628T>C (n.*4628T>C)
c.*2047T>C (n.*2047T>C)
c.3709T>C (p.Tyr1237His)
n.7173T>C
c.4075T>C (p.Tyr1359His)
c.3352T>C (p.Tyr1118His)
c.1903T>C (p.Tyr635His)
 gnomAD v4
2g.165374817T>GCA349030887SCN2Ac.4105T>G (p.Tyr1369Asp)
c.*2424T>G (n.*2424T>G)
c.*2092T>G (n.*2092T>G)
c.*4628T>G (n.*4628T>G)
c.*2047T>G (n.*2047T>G)
c.3709T>G (p.Tyr1237Asp)
n.7173T>G
c.4075T>G (p.Tyr1359Asp)
c.3352T>G (p.Tyr1118Asp)
c.1903T>G (p.Tyr635Asp)
2g.165374818A>CCA349030891SCN2Ac.4106A>C (p.Tyr1369Ser)
c.*2425A>C (n.*2425A>C)
c.*2093A>C (n.*2093A>C)
c.*4629A>C (n.*4629A>C)
c.*2048A>C (n.*2048A>C)
c.3710A>C (p.Tyr1237Ser)
n.7174A>C
c.4076A>C (p.Tyr1359Ser)
c.3353A>C (p.Tyr1118Ser)
c.1904A>C (p.Tyr635Ser)
2g.165374818A>GCA349030894SCN2Ac.4106A>G (p.Tyr1369Cys)
c.*2425A>G (n.*2425A>G)
c.*2093A>G (n.*2093A>G)
c.*4629A>G (n.*4629A>G)
c.*2048A>G (n.*2048A>G)
c.3710A>G (p.Tyr1237Cys)
n.7174A>G
c.4076A>G (p.Tyr1359Cys)
c.3353A>G (p.Tyr1118Cys)
c.1904A>G (p.Tyr635Cys)
2g.165374818A>TCA349030896SCN2Ac.4106A>T (p.Tyr1369Phe)
c.*2425A>T (n.*2425A>T)
c.*2093A>T (n.*2093A>T)
c.*4629A>T (n.*4629A>T)
c.*2048A>T (n.*2048A>T)
c.3710A>T (p.Tyr1237Phe)
n.7174A>T
c.4076A>T (p.Tyr1359Phe)
c.3353A>T (p.Tyr1118Phe)
c.1904A>T (p.Tyr635Phe)
2g.165374819C>ACA349030898SCN2Ac.4107C>A (p.Tyr1369Ter)
c.*2426C>A (n.*2426C>A)
c.*2094C>A (n.*2094C>A)
c.*4630C>A (n.*4630C>A)
c.*2049C>A (n.*2049C>A)
c.3711C>A (p.Tyr1237Ter)
n.7175C>A
c.4077C>A (p.Tyr1359Ter)
c.3354C>A (p.Tyr1118Ter)
c.1905C>A (p.Tyr635Ter)
2g.165374819C>GCA349030900SCN2Ac.4107C>G (p.Tyr1369Ter)
c.*2426C>G (n.*2426C>G)
c.*2094C>G (n.*2094C>G)
c.*4630C>G (n.*4630C>G)
c.*2049C>G (n.*2049C>G)
c.3711C>G (p.Tyr1237Ter)
n.7175C>G
c.4077C>G (p.Tyr1359Ter)
c.3354C>G (p.Tyr1118Ter)
c.1905C>G (p.Tyr635Ter)
2g.165374819C>TCA429886712SCN2Ac.4107C>T (p.Tyr1369=)
c.*2426C>T (n.*2426C>T)
c.*2094C>T (n.*2094C>T)
c.*4630C>T (n.*4630C>T)
c.*2049C>T (n.*2049C>T)
c.3711C>T (p.Tyr1237=)
n.7175C>T
c.4077C>T (p.Tyr1359=)
c.3354C>T (p.Tyr1118=)
c.1905C>T (p.Tyr635=)
 gnomAD v4
2g.165374820A=CA1304559789SCN2Ac.4108A= (p.Thr1370=)
c.*2427A= (n.*2427A=)
c.*2095A= (n.*2095A=)
c.*4631A= (n.*4631A=)
c.*2050A= (n.*2050A=)
c.3712A= (p.Thr1238=)
n.7176A=
c.4078A= (p.Thr1360=)
c.3355A= (p.Thr1119=)
c.1906A= (p.Thr636=)
2g.165374820A>CCA349030906SCN2Ac.4108A>C (p.Thr1370Pro)
c.*2427A>C (n.*2427A>C)
c.*2095A>C (n.*2095A>C)
c.*4631A>C (n.*4631A>C)
c.*2050A>C (n.*2050A>C)
c.3712A>C (p.Thr1238Pro)
n.7176A>C
c.4078A>C (p.Thr1360Pro)
c.3355A>C (p.Thr1119Pro)
c.1906A>C (p.Thr636Pro)
2g.165374820A>GCA1940221SCN2Ac.4108A>G (p.Thr1370Ala)
c.*2427A>G (n.*2427A>G)
c.*2095A>G (n.*2095A>G)
c.*4631A>G (n.*4631A>G)
c.*2050A>G (n.*2050A>G)
c.3712A>G (p.Thr1238Ala)
n.7176A>G
c.4078A>G (p.Thr1360Ala)
c.3355A>G (p.Thr1119Ala)
c.1906A>G (p.Thr636Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.165374820A>TCA349030904SCN2Ac.4108A>T (p.Thr1370Ser)
c.*2427A>T (n.*2427A>T)
c.*2095A>T (n.*2095A>T)
c.*4631A>T (n.*4631A>T)
c.*2050A>T (n.*2050A>T)
c.3712A>T (p.Thr1238Ser)
n.7176A>T
c.4078A>T (p.Thr1360Ser)
c.3355A>T (p.Thr1119Ser)
c.1906A>T (p.Thr636Ser)
2g.165374821C>ACA349030911SCN2Ac.4109C>A (p.Thr1370Asn)
c.*2428C>A (n.*2428C>A)
c.*2096C>A (n.*2096C>A)
c.*4632C>A (n.*4632C>A)
c.*2051C>A (n.*2051C>A)
c.3713C>A (p.Thr1238Asn)
n.7177C>A
c.4079C>A (p.Thr1360Asn)
c.3356C>A (p.Thr1119Asn)
c.1907C>A (p.Thr636Asn)
 gnomAD v4
2g.165374821C>GCA349030914SCN2Ac.4109C>G (p.Thr1370Ser)
c.*2428C>G (n.*2428C>G)
c.*2096C>G (n.*2096C>G)
c.*4632C>G (n.*4632C>G)
c.*2051C>G (n.*2051C>G)
c.3713C>G (p.Thr1238Ser)
n.7177C>G
c.4079C>G (p.Thr1360Ser)
c.3356C>G (p.Thr1119Ser)
c.1907C>G (p.Thr636Ser)
2g.165374821C>TCA349030917SCN2Ac.4109C>T (p.Thr1370Ile)
c.*2428C>T (n.*2428C>T)
c.*2096C>T (n.*2096C>T)
c.*4632C>T (n.*4632C>T)
c.*2051C>T (n.*2051C>T)
c.3713C>T (p.Thr1238Ile)
n.7177C>T
c.4079C>T (p.Thr1360Ile)
c.3356C>T (p.Thr1119Ile)
c.1907C>T (p.Thr636Ile)
2g.165374822C>ACA429886713SCN2Ac.4110C>A (p.Thr1370=)
c.*2429C>A (n.*2429C>A)
c.*2097C>A (n.*2097C>A)
c.*4633C>A (n.*4633C>A)
c.*2052C>A (n.*2052C>A)
c.3714C>A (p.Thr1238=)
n.7178C>A
c.4080C>A (p.Thr1360=)
c.3357C>A (p.Thr1119=)
c.1908C>A (p.Thr636=)
2g.165374822C=CA1304559794SCN2Ac.4110C= (p.Thr1370=)
c.*2429C= (n.*2429C=)
c.*2097C= (n.*2097C=)
c.*4633C= (n.*4633C=)
c.*2052C= (n.*2052C=)
c.3714C= (p.Thr1238=)
n.7178C=
c.4080C= (p.Thr1360=)
c.3357C= (p.Thr1119=)
c.1908C= (p.Thr636=)
2g.165374822C>GCA429886714SCN2Ac.4110C>G (p.Thr1370=)
c.*2429C>G (n.*2429C>G)
c.*2097C>G (n.*2097C>G)
c.*4633C>G (n.*4633C>G)
c.*2052C>G (n.*2052C>G)
c.3714C>G (p.Thr1238=)
n.7178C>G
c.4080C>G (p.Thr1360=)
c.3357C>G (p.Thr1119=)
c.1908C>G (p.Thr636=)
 gnomAD v4
2g.165374822C>TCA1940222SCN2Ac.4110C>T (p.Thr1370=)
c.*2429C>T (n.*2429C>T)
c.*2097C>T (n.*2097C>T)
c.*4633C>T (n.*4633C>T)
c.*2052C>T (n.*2052C>T)
c.3714C>T (p.Thr1238=)
n.7178C>T
c.4080C>T (p.Thr1360=)
c.3357C>T (p.Thr1119=)
c.1908C>T (p.Thr636=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165374823A>CCA349030922SCN2Ac.4111A>C (p.Thr1371Pro)
c.*2430A>C (n.*2430A>C)
c.*2098A>C (n.*2098A>C)
c.*4634A>C (n.*4634A>C)
c.*2053A>C (n.*2053A>C)
c.3715A>C (p.Thr1239Pro)
n.7179A>C
c.4081A>C (p.Thr1361Pro)
c.3358A>C (p.Thr1120Pro)
c.1909A>C (p.Thr637Pro)
2g.165374823A>GCA349030924SCN2Ac.4111A>G (p.Thr1371Ala)
c.*2430A>G (n.*2430A>G)
c.*2098A>G (n.*2098A>G)
c.*4634A>G (n.*4634A>G)
c.*2053A>G (n.*2053A>G)
c.3715A>G (p.Thr1239Ala)
n.7179A>G
c.4081A>G (p.Thr1361Ala)
c.3358A>G (p.Thr1120Ala)
c.1909A>G (p.Thr637Ala)
2g.165374823A>TCA349030926SCN2Ac.4111A>T (p.Thr1371Ser)
c.*2430A>T (n.*2430A>T)
c.*2098A>T (n.*2098A>T)
c.*4634A>T (n.*4634A>T)
c.*2053A>T (n.*2053A>T)
c.3715A>T (p.Thr1239Ser)
n.7179A>T
c.4081A>T (p.Thr1361Ser)
c.3358A>T (p.Thr1120Ser)
c.1909A>T (p.Thr637Ser)
2g.165374824C>ACA349030930SCN2Ac.4112C>A (p.Thr1371Asn)
c.*2431C>A (n.*2431C>A)
c.*2099C>A (n.*2099C>A)
c.*4635C>A (n.*4635C>A)
c.*2054C>A (n.*2054C>A)
c.3716C>A (p.Thr1239Asn)
n.7180C>A
c.4082C>A (p.Thr1361Asn)
c.3359C>A (p.Thr1120Asn)
c.1910C>A (p.Thr637Asn)
2g.165374824C>GCA349030933SCN2Ac.4112C>G (p.Thr1371Ser)
c.*2431C>G (n.*2431C>G)
c.*2099C>G (n.*2099C>G)
c.*4635C>G (n.*4635C>G)
c.*2054C>G (n.*2054C>G)
c.3716C>G (p.Thr1239Ser)
n.7180C>G
c.4082C>G (p.Thr1361Ser)
c.3359C>G (p.Thr1120Ser)
c.1910C>G (p.Thr637Ser)
2g.165374824C>TCA349030936SCN2Ac.4112C>T (p.Thr1371Ile)
c.*2431C>T (n.*2431C>T)
c.*2099C>T (n.*2099C>T)
c.*4635C>T (n.*4635C>T)
c.*2054C>T (n.*2054C>T)
c.3716C>T (p.Thr1239Ile)
n.7180C>T
c.4082C>T (p.Thr1361Ile)
c.3359C>T (p.Thr1120Ile)
c.1910C>T (p.Thr637Ile)
2g.165374825T>ACA429886715SCN2Ac.4113T>A (p.Thr1371=)
c.*2432T>A (n.*2432T>A)
c.*2100T>A (n.*2100T>A)
c.*4636T>A (n.*4636T>A)
c.*2055T>A (n.*2055T>A)
c.3717T>A (p.Thr1239=)
n.7181T>A
c.4083T>A (p.Thr1361=)
c.3360T>A (p.Thr1120=)
c.1911T>A (p.Thr637=)
2g.165374825T>CCA429886716SCN2Ac.4113T>C (p.Thr1371=)
c.*2432T>C (n.*2432T>C)
c.*2100T>C (n.*2100T>C)
c.*4636T>C (n.*4636T>C)
c.*2055T>C (n.*2055T>C)
c.3717T>C (p.Thr1239=)
n.7181T>C
c.4083T>C (p.Thr1361=)
c.3360T>C (p.Thr1120=)
c.1911T>C (p.Thr637=)
2g.165374825T>GCA429886717SCN2Ac.4113T>G (p.Thr1371=)
c.*2432T>G (n.*2432T>G)
c.*2100T>G (n.*2100T>G)
c.*4636T>G (n.*4636T>G)
c.*2055T>G (n.*2055T>G)
c.3717T>G (p.Thr1239=)
n.7181T>G
c.4083T>G (p.Thr1361=)
c.3360T>G (p.Thr1120=)
c.1911T>G (p.Thr637=)
2g.165374826G>ACA349030939SCN2Ac.4114G>A (p.Gly1372Arg)
c.*2433G>A (n.*2433G>A)
c.*2101G>A (n.*2101G>A)
c.*4637G>A (n.*4637G>A)
c.*2056G>A (n.*2056G>A)
c.3718G>A (p.Gly1240Arg)
n.7182G>A
c.4084G>A (p.Gly1362Arg)
c.3361G>A (p.Gly1121Arg)
c.1912G>A (p.Gly638Arg)
2g.165374826G>CCA349030942SCN2Ac.4114G>C (p.Gly1372Arg)
c.*2433G>C (n.*2433G>C)
c.*2101G>C (n.*2101G>C)
c.*4637G>C (n.*4637G>C)
c.*2056G>C (n.*2056G>C)
c.3718G>C (p.Gly1240Arg)
n.7182G>C
c.4084G>C (p.Gly1362Arg)
c.3361G>C (p.Gly1121Arg)
c.1912G>C (p.Gly638Arg)
2g.165374826G=CA1304559795SCN2Ac.4114G= (p.Gly1372=)
c.*2433G= (n.*2433G=)
c.*2101G= (n.*2101G=)
c.*4637G= (n.*4637G=)
c.*2056G= (n.*2056G=)
c.3718G= (p.Gly1240=)
n.7182G=
c.4084G= (p.Gly1362=)
c.3361G= (p.Gly1121=)
c.1912G= (p.Gly638=)
2g.165374826G>TCA349030943SCN2Ac.4114G>T (p.Gly1372Ter)
c.*2433G>T (n.*2433G>T)
c.*2101G>T (n.*2101G>T)
c.*4637G>T (n.*4637G>T)
c.*2056G>T (n.*2056G>T)
c.3718G>T (p.Gly1240Ter)
n.7182G>T
c.4084G>T (p.Gly1362Ter)
c.3361G>T (p.Gly1121Ter)
c.1912G>T (p.Gly638Ter)
 dbSNP
2g.165374827G>ACA349030948SCN2Ac.4115G>A (p.Gly1372Glu)
c.*2434G>A (n.*2434G>A)
c.*2102G>A (n.*2102G>A)
c.*4638G>A (n.*4638G>A)
c.*2057G>A (n.*2057G>A)
c.3719G>A (p.Gly1240Glu)
n.7183G>A
c.4085G>A (p.Gly1362Glu)
c.3362G>A (p.Gly1121Glu)
c.1913G>A (p.Gly638Glu)
2g.165374827G>CCA349030950SCN2Ac.4115G>C (p.Gly1372Ala)
c.*2434G>C (n.*2434G>C)
c.*2102G>C (n.*2102G>C)
c.*4638G>C (n.*4638G>C)
c.*2057G>C (n.*2057G>C)
c.3719G>C (p.Gly1240Ala)
n.7183G>C
c.4085G>C (p.Gly1362Ala)
c.3362G>C (p.Gly1121Ala)
c.1913G>C (p.Gly638Ala)
2g.165374827G>TCA349030947SCN2Ac.4115G>T (p.Gly1372Val)
c.*2434G>T (n.*2434G>T)
c.*2102G>T (n.*2102G>T)
c.*4638G>T (n.*4638G>T)
c.*2057G>T (n.*2057G>T)
c.3719G>T (p.Gly1240Val)
n.7183G>T
c.4085G>T (p.Gly1362Val)
c.3362G>T (p.Gly1121Val)
c.1913G>T (p.Gly638Val)
2g.165374828A>CCA429886718SCN2Ac.4116A>C (p.Gly1372=)
c.*2435A>C (n.*2435A>C)
c.*2103A>C (n.*2103A>C)
c.*4639A>C (n.*4639A>C)
c.*2058A>C (n.*2058A>C)
c.3720A>C (p.Gly1240=)
n.7184A>C
c.4086A>C (p.Gly1362=)
c.3363A>C (p.Gly1121=)
c.1914A>C (p.Gly638=)
2g.165374828A>GCA429886719SCN2Ac.4116A>G (p.Gly1372=)
c.*2435A>G (n.*2435A>G)
c.*2103A>G (n.*2103A>G)
c.*4639A>G (n.*4639A>G)
c.*2058A>G (n.*2058A>G)
c.3720A>G (p.Gly1240=)
n.7184A>G
c.4086A>G (p.Gly1362=)
c.3363A>G (p.Gly1121=)
c.1914A>G (p.Gly638=)
 gnomAD v4
2g.165374828A>TCA429886720SCN2Ac.4116A>T (p.Gly1372=)
c.*2435A>T (n.*2435A>T)
c.*2103A>T (n.*2103A>T)
c.*4639A>T (n.*4639A>T)
c.*2058A>T (n.*2058A>T)
c.3720A>T (p.Gly1240=)
n.7184A>T
c.4086A>T (p.Gly1362=)
c.3363A>T (p.Gly1121=)
c.1914A>T (p.Gly638=)
2g.165374829G>ACA349030954SCN2Ac.4117G>A (p.Glu1373Lys)
c.*2436G>A (n.*2436G>A)
c.*2104G>A (n.*2104G>A)
c.*4640G>A (n.*4640G>A)
c.*2059G>A (n.*2059G>A)
c.3721G>A (p.Glu1241Lys)
n.7185G>A
c.4087G>A (p.Glu1363Lys)
c.3364G>A (p.Glu1122Lys)
c.1915G>A (p.Glu639Lys)
 gnomAD v4
2g.165374829G>CCA349030957SCN2Ac.4117G>C (p.Glu1373Gln)
c.*2436G>C (n.*2436G>C)
c.*2104G>C (n.*2104G>C)
c.*4640G>C (n.*4640G>C)
c.*2059G>C (n.*2059G>C)
c.3721G>C (p.Glu1241Gln)
n.7185G>C
c.4087G>C (p.Glu1363Gln)
c.3364G>C (p.Glu1122Gln)
c.1915G>C (p.Glu639Gln)
2g.165374829G=CA1304559797SCN2Ac.4117G= (p.Glu1373=)
c.*2436G= (n.*2436G=)
c.*2104G= (n.*2104G=)
c.*4640G= (n.*4640G=)
c.*2059G= (n.*2059G=)
c.3721G= (p.Glu1241=)
n.7185G=
c.4087G= (p.Glu1363=)
c.3364G= (p.Glu1122=)
c.1915G= (p.Glu639=)
2g.165374829G>TCA349030960SCN2Ac.4117G>T (p.Glu1373Ter)
c.*2436G>T (n.*2436G>T)
c.*2104G>T (n.*2104G>T)
c.*4640G>T (n.*4640G>T)
c.*2059G>T (n.*2059G>T)
c.3721G>T (p.Glu1241Ter)
n.7185G>T
c.4087G>T (p.Glu1363Ter)
c.3364G>T (p.Glu1122Ter)
c.1915G>T (p.Glu639Ter)
 dbSNP
2g.165374830A=CA1304559800SCN2Ac.4118A= (p.Glu1373=)
c.*2437A= (n.*2437A=)
c.*2105A= (n.*2105A=)
c.*4641A= (n.*4641A=)
c.*2060A= (n.*2060A=)
c.3722A= (p.Glu1241=)
n.7186A=
c.4088A= (p.Glu1363=)
c.3365A= (p.Glu1122=)
c.1916A= (p.Glu639=)
2g.165374830A>CCA349030962SCN2Ac.4118A>C (p.Glu1373Ala)
c.*2437A>C (n.*2437A>C)
c.*2105A>C (n.*2105A>C)
c.*4641A>C (n.*4641A>C)
c.*2060A>C (n.*2060A>C)
c.3722A>C (p.Glu1241Ala)
n.7186A>C
c.4088A>C (p.Glu1363Ala)
c.3365A>C (p.Glu1122Ala)
c.1916A>C (p.Glu639Ala)
2g.165374830A>GCA59741944SCN2Ac.4118A>G (p.Glu1373Gly)
c.*2437A>G (n.*2437A>G)
c.*2105A>G (n.*2105A>G)
c.*4641A>G (n.*4641A>G)
c.*2060A>G (n.*2060A>G)
c.3722A>G (p.Glu1241Gly)
n.7186A>G
c.4088A>G (p.Glu1363Gly)
c.3365A>G (p.Glu1122Gly)
c.1916A>G (p.Glu639Gly)
 ClinVar dbSNP gnomAD v4
2g.165374830A>TCA349030966SCN2Ac.4118A>T (p.Glu1373Val)
c.*2437A>T (n.*2437A>T)
c.*2105A>T (n.*2105A>T)
c.*4641A>T (n.*4641A>T)
c.*2060A>T (n.*2060A>T)
c.3722A>T (p.Glu1241Val)
n.7186A>T
c.4088A>T (p.Glu1363Val)
c.3365A>T (p.Glu1122Val)
c.1916A>T (p.Glu639Val)
 dbSNP gnomAD v2 gnomAD v4
2g.165374831G>ACA429886721SCN2Ac.4119G>A (p.Glu1373=)
c.*2438G>A (n.*2438G>A)
c.*2106G>A (n.*2106G>A)
c.*4642G>A (n.*4642G>A)
c.*2061G>A (n.*2061G>A)
c.3723G>A (p.Glu1241=)
n.7187G>A
c.4089G>A (p.Glu1363=)
c.3366G>A (p.Glu1122=)
c.1917G>A (p.Glu639=)
 COSMIC COSMIC
2g.165374831G>CCA349030971SCN2Ac.4119G>C (p.Glu1373Asp)
c.*2438G>C (n.*2438G>C)
c.*2106G>C (n.*2106G>C)
c.*4642G>C (n.*4642G>C)
c.*2061G>C (n.*2061G>C)
c.3723G>C (p.Glu1241Asp)
n.7187G>C
c.4089G>C (p.Glu1363Asp)
c.3366G>C (p.Glu1122Asp)
c.1917G>C (p.Glu639Asp)
2g.165374831G>TCA349030970SCN2Ac.4119G>T (p.Glu1373Asp)
c.*2438G>T (n.*2438G>T)
c.*2106G>T (n.*2106G>T)
c.*4642G>T (n.*4642G>T)
c.*2061G>T (n.*2061G>T)
c.3723G>T (p.Glu1241Asp)
n.7187G>T
c.4089G>T (p.Glu1363Asp)
c.3366G>T (p.Glu1122Asp)
c.1917G>T (p.Glu639Asp)
 COSMIC COSMIC
2g.165374832A>CCA349030974SCN2Ac.4120A>C (p.Met1374Leu)
c.*2439A>C (n.*2439A>C)
c.*2107A>C (n.*2107A>C)
c.*4643A>C (n.*4643A>C)
c.*2062A>C (n.*2062A>C)
c.3724A>C (p.Met1242Leu)
n.7188A>C
c.4090A>C (p.Met1364Leu)
c.3367A>C (p.Met1123Leu)
c.1918A>C (p.Met640Leu)
2g.165374832A>GCA349030975SCN2Ac.4120A>G (p.Met1374Val)
c.*2439A>G (n.*2439A>G)
c.*2107A>G (n.*2107A>G)
c.*4643A>G (n.*4643A>G)
c.*2062A>G (n.*2062A>G)
c.3724A>G (p.Met1242Val)
n.7188A>G
c.4090A>G (p.Met1364Val)
c.3367A>G (p.Met1123Val)
c.1918A>G (p.Met640Val)
2g.165374832A>TCA349030978SCN2Ac.4120A>T (p.Met1374Leu)
c.*2439A>T (n.*2439A>T)
c.*2107A>T (n.*2107A>T)
c.*4643A>T (n.*4643A>T)
c.*2062A>T (n.*2062A>T)
c.3724A>T (p.Met1242Leu)
n.7188A>T
c.4090A>T (p.Met1364Leu)
c.3367A>T (p.Met1123Leu)
c.1918A>T (p.Met640Leu)
2g.165374833T>ACA1940224SCN2Ac.4121T>A (p.Met1374Lys)
c.*2440T>A (n.*2440T>A)
c.*2108T>A (n.*2108T>A)
c.*4644T>A (n.*4644T>A)
c.*2063T>A (n.*2063T>A)
c.3725T>A (p.Met1242Lys)
n.7189T>A
c.4091T>A (p.Met1364Lys)
c.3368T>A (p.Met1123Lys)
c.1919T>A (p.Met640Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165374833T>CCA1940223SCN2Ac.4121T>C (p.Met1374Thr)
c.*2440T>C (n.*2440T>C)
c.*2108T>C (n.*2108T>C)
c.*4644T>C (n.*4644T>C)
c.*2063T>C (n.*2063T>C)
c.3725T>C (p.Met1242Thr)
n.7189T>C
c.4091T>C (p.Met1364Thr)
c.3368T>C (p.Met1123Thr)
c.1919T>C (p.Met640Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165374833T>GCA349030982SCN2Ac.4121T>G (p.Met1374Arg)
c.*2440T>G (n.*2440T>G)
c.*2108T>G (n.*2108T>G)
c.*4644T>G (n.*4644T>G)
c.*2063T>G (n.*2063T>G)
c.3725T>G (p.Met1242Arg)
n.7189T>G
c.4091T>G (p.Met1364Arg)
c.3368T>G (p.Met1123Arg)
c.1919T>G (p.Met640Arg)
2g.165374833T=CA1304559809SCN2Ac.4121T= (p.Met1374=)
c.*2440T= (n.*2440T=)
c.*2108T= (n.*2108T=)
c.*4644T= (n.*4644T=)
c.*2063T= (n.*2063T=)
c.3725T= (p.Met1242=)
n.7189T=
c.4091T= (p.Met1364=)
c.3368T= (p.Met1123=)
c.1919T= (p.Met640=)
2g.165374834G>ACA349030991SCN2Ac.4122G>A (p.Met1374Ile)
c.*2441G>A (n.*2441G>A)
c.*2109G>A (n.*2109G>A)
c.*4645G>A (n.*4645G>A)
c.*2064G>A (n.*2064G>A)
c.3726G>A (p.Met1242Ile)
n.7190G>A
c.4092G>A (p.Met1364Ile)
c.3369G>A (p.Met1123Ile)
c.1920G>A (p.Met640Ile)
2g.165374834G>CCA349030989SCN2Ac.4122G>C (p.Met1374Ile)
c.*2441G>C (n.*2441G>C)
c.*2109G>C (n.*2109G>C)
c.*4645G>C (n.*4645G>C)
c.*2064G>C (n.*2064G>C)
c.3726G>C (p.Met1242Ile)
n.7190G>C
c.4092G>C (p.Met1364Ile)
c.3369G>C (p.Met1123Ile)
c.1920G>C (p.Met640Ile)
2g.165374834G>TCA349030985SCN2Ac.4122G>T (p.Met1374Ile)
c.*2441G>T (n.*2441G>T)
c.*2109G>T (n.*2109G>T)
c.*4645G>T (n.*4645G>T)
c.*2064G>T (n.*2064G>T)
c.3726G>T (p.Met1242Ile)
n.7190G>T
c.4092G>T (p.Met1364Ile)
c.3369G>T (p.Met1123Ile)
c.1920G>T (p.Met640Ile)
2g.165374835T>ACA349030996SCN2Ac.4123T>A (p.Phe1375Ile)
c.*2442T>A (n.*2442T>A)
c.*2110T>A (n.*2110T>A)
c.*4646T>A (n.*4646T>A)
c.*2065T>A (n.*2065T>A)
c.3727T>A (p.Phe1243Ile)
n.7191T>A
c.4093T>A (p.Phe1365Ile)
c.3370T>A (p.Phe1124Ile)
c.1921T>A (p.Phe641Ile)
2g.165374835T>CCA349031007SCN2Ac.4123T>C (p.Phe1375Leu)
c.*2442T>C (n.*2442T>C)
c.*2110T>C (n.*2110T>C)
c.*4646T>C (n.*4646T>C)
c.*2065T>C (n.*2065T>C)
c.3727T>C (p.Phe1243Leu)
n.7191T>C
c.4093T>C (p.Phe1365Leu)
c.3370T>C (p.Phe1124Leu)
c.1921T>C (p.Phe641Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.165374835T>GCA349031004SCN2Ac.4123T>G (p.Phe1375Val)
c.*2442T>G (n.*2442T>G)
c.*2110T>G (n.*2110T>G)
c.*4646T>G (n.*4646T>G)
c.*2065T>G (n.*2065T>G)
c.3727T>G (p.Phe1243Val)
n.7191T>G
c.4093T>G (p.Phe1365Val)
c.3370T>G (p.Phe1124Val)
c.1921T>G (p.Phe641Val)
 ClinVar dbSNP
2g.165374835T=CA1304559816SCN2Ac.4123T= (p.Phe1375=)
c.*2442T= (n.*2442T=)
c.*2110T= (n.*2110T=)
c.*4646T= (n.*4646T=)
c.*2065T= (n.*2065T=)
c.3727T= (p.Phe1243=)
n.7191T=
c.4093T= (p.Phe1365=)
c.3370T= (p.Phe1124=)
c.1921T= (p.Phe641=)
2g.165374836T>ACA349031009SCN2Ac.4124T>A (p.Phe1375Tyr)
c.*2443T>A (n.*2443T>A)
c.*2111T>A (n.*2111T>A)
c.*4647T>A (n.*4647T>A)
c.*2066T>A (n.*2066T>A)
c.3728T>A (p.Phe1243Tyr)
n.7192T>A
c.4094T>A (p.Phe1365Tyr)
c.3371T>A (p.Phe1124Tyr)
c.1922T>A (p.Phe641Tyr)
2g.165374836T>CCA349031011SCN2Ac.4124T>C (p.Phe1375Ser)
c.*2443T>C (n.*2443T>C)
c.*2111T>C (n.*2111T>C)
c.*4647T>C (n.*4647T>C)
c.*2066T>C (n.*2066T>C)
c.3728T>C (p.Phe1243Ser)
n.7192T>C
c.4094T>C (p.Phe1365Ser)
c.3371T>C (p.Phe1124Ser)
c.1922T>C (p.Phe641Ser)
2g.165374836T>GCA349031013SCN2Ac.4124T>G (p.Phe1375Cys)
c.*2443T>G (n.*2443T>G)
c.*2111T>G (n.*2111T>G)
c.*4647T>G (n.*4647T>G)
c.*2066T>G (n.*2066T>G)
c.3728T>G (p.Phe1243Cys)
n.7192T>G
c.4094T>G (p.Phe1365Cys)
c.3371T>G (p.Phe1124Cys)
c.1922T>G (p.Phe641Cys)
2g.165374837T>ACA349031016SCN2Ac.4125T>A (p.Phe1375Leu)
c.*2444T>A (n.*2444T>A)
c.*2112T>A (n.*2112T>A)
c.*4648T>A (n.*4648T>A)
c.*2067T>A (n.*2067T>A)
c.3729T>A (p.Phe1243Leu)
n.7193T>A
c.4095T>A (p.Phe1365Leu)
c.3372T>A (p.Phe1124Leu)
c.1923T>A (p.Phe641Leu)
2g.165374837T>CCA429886736SCN2Ac.4125T>C (p.Phe1375=)
c.*2444T>C (n.*2444T>C)
c.*2112T>C (n.*2112T>C)
c.*4648T>C (n.*4648T>C)
c.*2067T>C (n.*2067T>C)
c.3729T>C (p.Phe1243=)
n.7193T>C
c.4095T>C (p.Phe1365=)
c.3372T>C (p.Phe1124=)
c.1923T>C (p.Phe641=)
2g.165374837T>GCA349031018SCN2Ac.4125T>G (p.Phe1375Leu)
c.*2444T>G (n.*2444T>G)
c.*2112T>G (n.*2112T>G)
c.*4648T>G (n.*4648T>G)
c.*2067T>G (n.*2067T>G)
c.3729T>G (p.Phe1243Leu)
n.7193T>G
c.4095T>G (p.Phe1365Leu)
c.3372T>G (p.Phe1124Leu)
c.1923T>G (p.Phe641Leu)
2g.165374838G>ACA349031020SCN2Ac.4126G>A (p.Asp1376Asn)
c.*2445G>A (n.*2445G>A)
c.*2113G>A (n.*2113G>A)
c.*4649G>A (n.*4649G>A)
c.*2068G>A (n.*2068G>A)
c.3730G>A (p.Asp1244Asn)
n.7194G>A
c.4096G>A (p.Asp1366Asn)
c.3373G>A (p.Asp1125Asn)
c.1924G>A (p.Asp642Asn)
2g.165374838G>CCA349031022SCN2Ac.4126G>C (p.Asp1376His)
c.*2445G>C (n.*2445G>C)
c.*2113G>C (n.*2113G>C)
c.*4649G>C (n.*4649G>C)
c.*2068G>C (n.*2068G>C)
c.3730G>C (p.Asp1244His)
n.7194G>C
c.4096G>C (p.Asp1366His)
c.3373G>C (p.Asp1125His)
c.1924G>C (p.Asp642His)
 dbSNP gnomAD v3 gnomAD v4
2g.165374838G=CA1304559818SCN2Ac.4126G= (p.Asp1376=)
c.*2445G= (n.*2445G=)
c.*2113G= (n.*2113G=)
c.*4649G= (n.*4649G=)
c.*2068G= (n.*2068G=)
c.3730G= (p.Asp1244=)
n.7194G=
c.4096G= (p.Asp1366=)
c.3373G= (p.Asp1125=)
c.1924G= (p.Asp642=)
2g.165374838G>TCA349031025SCN2Ac.4126G>T (p.Asp1376Tyr)
c.*2445G>T (n.*2445G>T)
c.*2113G>T (n.*2113G>T)
c.*4649G>T (n.*4649G>T)
c.*2068G>T (n.*2068G>T)
c.3730G>T (p.Asp1244Tyr)
n.7194G>T
c.4096G>T (p.Asp1366Tyr)
c.3373G>T (p.Asp1125Tyr)
c.1924G>T (p.Asp642Tyr)
2g.165374839A>CCA349031027SCN2Ac.4127A>C (p.Asp1376Ala)
c.*2446A>C (n.*2446A>C)
c.*2114A>C (n.*2114A>C)
c.*4650A>C (n.*4650A>C)
c.*2069A>C (n.*2069A>C)
c.3731A>C (p.Asp1244Ala)
n.7195A>C
c.4097A>C (p.Asp1366Ala)
c.3374A>C (p.Asp1125Ala)
c.1925A>C (p.Asp642Ala)
2g.165374839A>GCA349031030SCN2Ac.4127A>G (p.Asp1376Gly)
c.*2446A>G (n.*2446A>G)
c.*2114A>G (n.*2114A>G)
c.*4650A>G (n.*4650A>G)
c.*2069A>G (n.*2069A>G)
c.3731A>G (p.Asp1244Gly)
n.7195A>G
c.4097A>G (p.Asp1366Gly)
c.3374A>G (p.Asp1125Gly)
c.1925A>G (p.Asp642Gly)
2g.165374839A>TCA349031033SCN2Ac.4127A>T (p.Asp1376Val)
c.*2446A>T (n.*2446A>T)
c.*2114A>T (n.*2114A>T)
c.*4650A>T (n.*4650A>T)
c.*2069A>T (n.*2069A>T)
c.3731A>T (p.Asp1244Val)
n.7195A>T
c.4097A>T (p.Asp1366Val)
c.3374A>T (p.Asp1125Val)
c.1925A>T (p.Asp642Val)
2g.165374840T>ACA349031035SCN2Ac.4128T>A (p.Asp1376Glu)
c.*2447T>A (n.*2447T>A)
c.*2115T>A (n.*2115T>A)
c.*4651T>A (n.*4651T>A)
c.*2070T>A (n.*2070T>A)
c.3732T>A (p.Asp1244Glu)
n.7196T>A
c.4098T>A (p.Asp1366Glu)
c.3375T>A (p.Asp1125Glu)
c.1926T>A (p.Asp642Glu)
2g.165374840T>CCA429886745SCN2Ac.4128T>C (p.Asp1376=)
c.*2447T>C (n.*2447T>C)
c.*2115T>C (n.*2115T>C)
c.*4651T>C (n.*4651T>C)
c.*2070T>C (n.*2070T>C)
c.3732T>C (p.Asp1244=)
n.7196T>C
c.4098T>C (p.Asp1366=)
c.3375T>C (p.Asp1125=)
c.1926T>C (p.Asp642=)
 dbSNP gnomAD v2 gnomAD v4
2g.165374840T>GCA349031038SCN2Ac.4128T>G (p.Asp1376Glu)
c.*2447T>G (n.*2447T>G)
c.*2115T>G (n.*2115T>G)
c.*4651T>G (n.*4651T>G)
c.*2070T>G (n.*2070T>G)
c.3732T>G (p.Asp1244Glu)
n.7196T>G
c.4098T>G (p.Asp1366Glu)
c.3375T>G (p.Asp1125Glu)
c.1926T>G (p.Asp642Glu)
2g.165374840T=CA1304559821SCN2Ac.4128T= (p.Asp1376=)
c.*2447T= (n.*2447T=)
c.*2115T= (n.*2115T=)
c.*4651T= (n.*4651T=)
c.*2070T= (n.*2070T=)
c.3732T= (p.Asp1244=)
n.7196T=
c.4098T= (p.Asp1366=)
c.3375T= (p.Asp1125=)
c.1926T= (p.Asp642=)
2g.165374841G>ACA349031049SCN2Ac.4129G>A (p.Val1377Ile)
c.*2448G>A (n.*2448G>A)
c.*2116G>A (n.*2116G>A)
c.*4652G>A (n.*4652G>A)
c.*2071G>A (n.*2071G>A)
c.3733G>A (p.Val1245Ile)
n.7197G>A
c.4099G>A (p.Val1367Ile)
c.3376G>A (p.Val1126Ile)
c.1927G>A (p.Val643Ile)
 gnomAD v4
2g.165374841G>CCA349031041SCN2Ac.4129G>C (p.Val1377Leu)
c.*2448G>C (n.*2448G>C)
c.*2116G>C (n.*2116G>C)
c.*4652G>C (n.*4652G>C)
c.*2071G>C (n.*2071G>C)
c.3733G>C (p.Val1245Leu)
n.7197G>C
c.4099G>C (p.Val1367Leu)
c.3376G>C (p.Val1126Leu)
c.1927G>C (p.Val643Leu)
2g.165374841G=CA1304559824SCN2Ac.4129G= (p.Val1377=)
c.*2448G= (n.*2448G=)
c.*2116G= (n.*2116G=)
c.*4652G= (n.*4652G=)
c.*2071G= (n.*2071G=)
c.3733G= (p.Val1245=)
n.7197G=
c.4099G= (p.Val1367=)
c.3376G= (p.Val1126=)
c.1927G= (p.Val643=)
2g.165374841G>TCA349031043SCN2Ac.4129G>T (p.Val1377Leu)
c.*2448G>T (n.*2448G>T)
c.*2116G>T (n.*2116G>T)
c.*4652G>T (n.*4652G>T)
c.*2071G>T (n.*2071G>T)
c.3733G>T (p.Val1245Leu)
n.7197G>T
c.4099G>T (p.Val1367Leu)
c.3376G>T (p.Val1126Leu)
c.1927G>T (p.Val643Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165374842T>ACA349031052SCN2Ac.4130T>A (p.Val1377Glu)
c.*2449T>A (n.*2449T>A)
c.*2117T>A (n.*2117T>A)
c.*4653T>A (n.*4653T>A)
c.*2072T>A (n.*2072T>A)
c.3734T>A (p.Val1245Glu)
n.7198T>A
c.4100T>A (p.Val1367Glu)
c.3377T>A (p.Val1126Glu)
c.1928T>A (p.Val643Glu)
2g.165374842T>CCA1940225SCN2Ac.4130T>C (p.Val1377Ala)
c.*2449T>C (n.*2449T>C)
c.*2117T>C (n.*2117T>C)
c.*4653T>C (n.*4653T>C)
c.*2072T>C (n.*2072T>C)
c.3734T>C (p.Val1245Ala)
n.7198T>C
c.4100T>C (p.Val1367Ala)
c.3377T>C (p.Val1126Ala)
c.1928T>C (p.Val643Ala)
 dbSNP ExAC gnomAD v4
2g.165374842T>GCA349031056SCN2Ac.4130T>G (p.Val1377Gly)
c.*2449T>G (n.*2449T>G)
c.*2117T>G (n.*2117T>G)
c.*4653T>G (n.*4653T>G)
c.*2072T>G (n.*2072T>G)
c.3734T>G (p.Val1245Gly)
n.7198T>G
c.4100T>G (p.Val1367Gly)
c.3377T>G (p.Val1126Gly)
c.1928T>G (p.Val643Gly)
2g.165374842T=CA1304559830SCN2Ac.4130T= (p.Val1377=)
c.*2449T= (n.*2449T=)
c.*2117T= (n.*2117T=)
c.*4653T= (n.*4653T=)
c.*2072T= (n.*2072T=)
c.3734T= (p.Val1245=)
n.7198T=
c.4100T= (p.Val1367=)
c.3377T= (p.Val1126=)
c.1928T= (p.Val643=)
2g.165374843A>CCA429886758SCN2Ac.4131A>C (p.Val1377=)
c.*2450A>C (n.*2450A>C)
c.*2118A>C (n.*2118A>C)
c.*4654A>C (n.*4654A>C)
c.*2073A>C (n.*2073A>C)
c.3735A>C (p.Val1245=)
n.7199A>C
c.4101A>C (p.Val1367=)
c.3378A>C (p.Val1126=)
c.1929A>C (p.Val643=)
2g.165374843A>GCA429886756SCN2Ac.4131A>G (p.Val1377=)
c.*2450A>G (n.*2450A>G)
c.*2118A>G (n.*2118A>G)
c.*4654A>G (n.*4654A>G)
c.*2073A>G (n.*2073A>G)
c.3735A>G (p.Val1245=)
n.7199A>G
c.4101A>G (p.Val1367=)
c.3378A>G (p.Val1126=)
c.1929A>G (p.Val643=)
2g.165374843A>TCA429886754SCN2Ac.4131A>T (p.Val1377=)
c.*2450A>T (n.*2450A>T)
c.*2118A>T (n.*2118A>T)
c.*4654A>T (n.*4654A>T)
c.*2073A>T (n.*2073A>T)
c.3735A>T (p.Val1245=)
n.7199A>T
c.4101A>T (p.Val1367=)
c.3378A>T (p.Val1126=)
c.1929A>T (p.Val643=)
2g.165374844A>CCA349031058SCN2Ac.4132A>C (p.Ser1378Arg)
c.*2451A>C (n.*2451A>C)
c.*2119A>C (n.*2119A>C)
c.*4655A>C (n.*4655A>C)
c.*2074A>C (n.*2074A>C)
c.3736A>C (p.Ser1246Arg)
n.7200A>C
c.4102A>C (p.Ser1368Arg)
c.3379A>C (p.Ser1127Arg)
c.1930A>C (p.Ser644Arg)
2g.165374844A>GCA349031059SCN2Ac.4132A>G (p.Ser1378Gly)
c.*2451A>G (n.*2451A>G)
c.*2119A>G (n.*2119A>G)
c.*4655A>G (n.*4655A>G)
c.*2074A>G (n.*2074A>G)
c.3736A>G (p.Ser1246Gly)
n.7200A>G
c.4102A>G (p.Ser1368Gly)
c.3379A>G (p.Ser1127Gly)
c.1930A>G (p.Ser644Gly)
2g.165374844A>TCA349031061SCN2Ac.4132A>T (p.Ser1378Cys)
c.*2451A>T (n.*2451A>T)
c.*2119A>T (n.*2119A>T)
c.*4655A>T (n.*4655A>T)
c.*2074A>T (n.*2074A>T)
c.3736A>T (p.Ser1246Cys)
n.7200A>T
c.4102A>T (p.Ser1368Cys)
c.3379A>T (p.Ser1127Cys)
c.1930A>T (p.Ser644Cys)
2g.165374845G>ACA349031062SCN2Ac.4133G>A (p.Ser1378Asn)
c.*2452G>A (n.*2452G>A)
c.*2120G>A (n.*2120G>A)
c.*4656G>A (n.*4656G>A)
c.*2075G>A (n.*2075G>A)
c.3737G>A (p.Ser1246Asn)
n.7201G>A
c.4103G>A (p.Ser1368Asn)
c.3380G>A (p.Ser1127Asn)
c.1931G>A (p.Ser644Asn)
2g.165374845G>CCA349031063SCN2Ac.4133G>C (p.Ser1378Thr)
c.*2452G>C (n.*2452G>C)
c.*2120G>C (n.*2120G>C)
c.*4656G>C (n.*4656G>C)
c.*2075G>C (n.*2075G>C)
c.3737G>C (p.Ser1246Thr)
n.7201G>C
c.4103G>C (p.Ser1368Thr)
c.3380G>C (p.Ser1127Thr)
c.1931G>C (p.Ser644Thr)
2g.165374845G>TCA349031064SCN2Ac.4133G>T (p.Ser1378Ile)
c.*2452G>T (n.*2452G>T)
c.*2120G>T (n.*2120G>T)
c.*4656G>T (n.*4656G>T)
c.*2075G>T (n.*2075G>T)
c.3737G>T (p.Ser1246Ile)
n.7201G>T
c.4103G>T (p.Ser1368Ile)
c.3380G>T (p.Ser1127Ile)
c.1931G>T (p.Ser644Ile)
2g.165374846C>ACA349031066SCN2Ac.4134C>A (p.Ser1378Arg)
c.*2453C>A (n.*2453C>A)
c.*2121C>A (n.*2121C>A)
c.*4657C>A (n.*4657C>A)
c.*2076C>A (n.*2076C>A)
c.3738C>A (p.Ser1246Arg)
n.7202C>A
c.4104C>A (p.Ser1368Arg)
c.3381C>A (p.Ser1127Arg)
c.1932C>A (p.Ser644Arg)
2g.165374846C=CA1304559836SCN2Ac.4134C= (p.Ser1378=)
c.*2453C= (n.*2453C=)
c.*2121C= (n.*2121C=)
c.*4657C= (n.*4657C=)
c.*2076C= (n.*2076C=)
c.3738C= (p.Ser1246=)
n.7202C=
c.4104C= (p.Ser1368=)
c.3381C= (p.Ser1127=)
c.1932C= (p.Ser644=)
2g.165374846C>GCA349031068SCN2Ac.4134C>G (p.Ser1378Arg)
c.*2453C>G (n.*2453C>G)
c.*2121C>G (n.*2121C>G)
c.*4657C>G (n.*4657C>G)
c.*2076C>G (n.*2076C>G)
c.3738C>G (p.Ser1246Arg)
n.7202C>G
c.4104C>G (p.Ser1368Arg)
c.3381C>G (p.Ser1127Arg)
c.1932C>G (p.Ser644Arg)
2g.165374846C>TCA1940226SCN2Ac.4134C>T (p.Ser1378=)
c.*2453C>T (n.*2453C>T)
c.*2121C>T (n.*2121C>T)
c.*4657C>T (n.*4657C>T)
c.*2076C>T (n.*2076C>T)
c.3738C>T (p.Ser1246=)
n.7202C>T
c.4104C>T (p.Ser1368=)
c.3381C>T (p.Ser1127=)
c.1932C>T (p.Ser644=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165374847G>ACA1940227SCN2Ac.4135G>A (p.Val1379Met)
c.*2454G>A (n.*2454G>A)
c.*2122G>A (n.*2122G>A)
c.*4658G>A (n.*4658G>A)
c.*2077G>A (n.*2077G>A)
c.3739G>A (p.Val1247Met)
n.7203G>A
c.4105G>A (p.Val1369Met)
c.3382G>A (p.Val1128Met)
c.1933G>A (p.Val645Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165374847G>CCA349031074SCN2Ac.4135G>C (p.Val1379Leu)
c.*2454G>C (n.*2454G>C)
c.*2122G>C (n.*2122G>C)
c.*4658G>C (n.*4658G>C)
c.*2077G>C (n.*2077G>C)
c.3739G>C (p.Val1247Leu)
n.7203G>C
c.4105G>C (p.Val1369Leu)
c.3382G>C (p.Val1128Leu)
c.1933G>C (p.Val645Leu)
2g.165374847G=CA1304559841SCN2Ac.4135G= (p.Val1379=)
c.*2454G= (n.*2454G=)
c.*2122G= (n.*2122G=)
c.*4658G= (n.*4658G=)
c.*2077G= (n.*2077G=)
c.3739G= (p.Val1247=)
n.7203G=
c.4105G= (p.Val1369=)
c.3382G= (p.Val1128=)
c.1933G= (p.Val645=)
2g.165374847G>TCA349031071SCN2Ac.4135G>T (p.Val1379Leu)
c.*2454G>T (n.*2454G>T)
c.*2122G>T (n.*2122G>T)
c.*4658G>T (n.*4658G>T)
c.*2077G>T (n.*2077G>T)
c.3739G>T (p.Val1247Leu)
n.7203G>T
c.4105G>T (p.Val1369Leu)
c.3382G>T (p.Val1128Leu)
c.1933G>T (p.Val645Leu)
2g.165374848T>ACA349031078SCN2Ac.4136T>A (p.Val1379Glu)
c.*2455T>A (n.*2455T>A)
c.*2123T>A (n.*2123T>A)
c.*4659T>A (n.*4659T>A)
c.*2078T>A (n.*2078T>A)
c.3740T>A (p.Val1247Glu)
n.7204T>A
c.4106T>A (p.Val1369Glu)
c.3383T>A (p.Val1128Glu)
c.1934T>A (p.Val645Glu)
2g.165374848T>CCA349031079SCN2Ac.4136T>C (p.Val1379Ala)
c.*2455T>C (n.*2455T>C)
c.*2123T>C (n.*2123T>C)
c.*4659T>C (n.*4659T>C)
c.*2078T>C (n.*2078T>C)
c.3740T>C (p.Val1247Ala)
n.7204T>C
c.4106T>C (p.Val1369Ala)
c.3383T>C (p.Val1128Ala)
c.1934T>C (p.Val645Ala)
2g.165374848T>GCA349031082SCN2Ac.4136T>G (p.Val1379Gly)
c.*2455T>G (n.*2455T>G)
c.*2123T>G (n.*2123T>G)
c.*4659T>G (n.*4659T>G)
c.*2078T>G (n.*2078T>G)
c.3740T>G (p.Val1247Gly)
n.7204T>G
c.4106T>G (p.Val1369Gly)
c.3383T>G (p.Val1128Gly)
c.1934T>G (p.Val645Gly)
2g.165374849G>ACA429886775SCN2Ac.4137G>A (p.Val1379=)
c.*2456G>A (n.*2456G>A)
c.*2124G>A (n.*2124G>A)
c.*4660G>A (n.*4660G>A)
c.*2079G>A (n.*2079G>A)
c.3741G>A (p.Val1247=)
n.7205G>A
c.4107G>A (p.Val1369=)
c.3384G>A (p.Val1128=)
c.1935G>A (p.Val645=)
2g.165374849G>CCA1940228SCN2Ac.4137G>C (p.Val1379=)
c.*2456G>C (n.*2456G>C)
c.*2124G>C (n.*2124G>C)
c.*4660G>C (n.*4660G>C)
c.*2079G>C (n.*2079G>C)
c.3741G>C (p.Val1247=)
n.7205G>C
c.4107G>C (p.Val1369=)
c.3384G>C (p.Val1128=)
c.1935G>C (p.Val645=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165374849G=CA1304559845SCN2Ac.4137G= (p.Val1379=)
c.*2456G= (n.*2456G=)
c.*2124G= (n.*2124G=)
c.*4660G= (n.*4660G=)
c.*2079G= (n.*2079G=)
c.3741G= (p.Val1247=)
n.7205G=
c.4107G= (p.Val1369=)
c.3384G= (p.Val1128=)
c.1935G= (p.Val645=)
2g.165374849G>TCA429886776SCN2Ac.4137G>T (p.Val1379=)
c.*2456G>T (n.*2456G>T)
c.*2124G>T (n.*2124G>T)
c.*4660G>T (n.*4660G>T)
c.*2079G>T (n.*2079G>T)
c.3741G>T (p.Val1247=)
n.7205G>T
c.4107G>T (p.Val1369=)
c.3384G>T (p.Val1128=)
c.1935G>T (p.Val645=)
2g.165374850G>ACA349031086SCN2Ac.4138G>A (p.Val1380Ile)
c.*2457G>A (n.*2457G>A)
c.*2125G>A (n.*2125G>A)
c.*4661G>A (n.*4661G>A)
c.*2080G>A (n.*2080G>A)
c.3742G>A (p.Val1248Ile)
n.7206G>A
c.4108G>A (p.Val1370Ile)
c.3385G>A (p.Val1129Ile)
c.1936G>A (p.Val646Ile)
2g.165374850G>CCA349031088SCN2Ac.4138G>C (p.Val1380Leu)
c.*2457G>C (n.*2457G>C)
c.*2125G>C (n.*2125G>C)
c.*4661G>C (n.*4661G>C)
c.*2080G>C (n.*2080G>C)
c.3742G>C (p.Val1248Leu)
n.7206G>C
c.4108G>C (p.Val1370Leu)
c.3385G>C (p.Val1129Leu)
c.1936G>C (p.Val646Leu)
2g.165374850G>TCA349031089SCN2Ac.4138G>T (p.Val1380Phe)
c.*2457G>T (n.*2457G>T)
c.*2125G>T (n.*2125G>T)
c.*4661G>T (n.*4661G>T)
c.*2080G>T (n.*2080G>T)
c.3742G>T (p.Val1248Phe)
n.7206G>T
c.4108G>T (p.Val1370Phe)
c.3385G>T (p.Val1129Phe)
c.1936G>T (p.Val646Phe)
2g.165374851T>ACA349031091SCN2Ac.4139T>A (p.Val1380Asp)
c.*2458T>A (n.*2458T>A)
c.*2126T>A (n.*2126T>A)
c.*4662T>A (n.*4662T>A)
c.*2081T>A (n.*2081T>A)
c.3743T>A (p.Val1248Asp)
n.7207T>A
c.4109T>A (p.Val1370Asp)
c.3386T>A (p.Val1129Asp)
c.1937T>A (p.Val646Asp)
2g.165374851T>CCA349031094SCN2Ac.4139T>C (p.Val1380Ala)
c.*2458T>C (n.*2458T>C)
c.*2126T>C (n.*2126T>C)
c.*4662T>C (n.*4662T>C)
c.*2081T>C (n.*2081T>C)
c.3743T>C (p.Val1248Ala)
n.7207T>C
c.4109T>C (p.Val1370Ala)
c.3386T>C (p.Val1129Ala)
c.1937T>C (p.Val646Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165374851T>GCA349031096SCN2Ac.4139T>G (p.Val1380Gly)
c.*2458T>G (n.*2458T>G)
c.*2126T>G (n.*2126T>G)
c.*4662T>G (n.*4662T>G)
c.*2081T>G (n.*2081T>G)
c.3743T>G (p.Val1248Gly)
n.7207T>G
c.4109T>G (p.Val1370Gly)
c.3386T>G (p.Val1129Gly)
c.1937T>G (p.Val646Gly)
 ClinVar
2g.165374851T=CA1304559848SCN2Ac.4139T= (p.Val1380=)
c.*2458T= (n.*2458T=)
c.*2126T= (n.*2126T=)
c.*4662T= (n.*4662T=)
c.*2081T= (n.*2081T=)
c.3743T= (p.Val1248=)
n.7207T=
c.4109T= (p.Val1370=)
c.3386T= (p.Val1129=)
c.1937T= (p.Val646=)
2g.165374852C>ACA429887100SCN2Ac.4140C>A (p.Val1380=)
c.*2459C>A (n.*2459C>A)
c.*2127C>A (n.*2127C>A)
c.*4663C>A (n.*4663C>A)
c.*2082C>A (n.*2082C>A)
c.3744C>A (p.Val1248=)
n.7208C>A
c.4110C>A (p.Val1370=)
c.3387C>A (p.Val1129=)
c.1938C>A (p.Val646=)
2g.165374852C>GCA429887102SCN2Ac.4140C>G (p.Val1380=)
c.*2459C>G (n.*2459C>G)
c.*2127C>G (n.*2127C>G)
c.*4663C>G (n.*4663C>G)
c.*2082C>G (n.*2082C>G)
c.3744C>G (p.Val1248=)
n.7208C>G
c.4110C>G (p.Val1370=)
c.3387C>G (p.Val1129=)
c.1938C>G (p.Val646=)
 ClinVar
2g.165374852C>TCA429887104SCN2Ac.4140C>T (p.Val1380=)
c.*2459C>T (n.*2459C>T)
c.*2127C>T (n.*2127C>T)
c.*4663C>T (n.*4663C>T)
c.*2082C>T (n.*2082C>T)
c.3744C>T (p.Val1248=)
n.7208C>T
c.4110C>T (p.Val1370=)
c.3387C>T (p.Val1129=)
c.1938C>T (p.Val646=)
2g.165374853A>CCA349031098SCN2Ac.4141A>C (p.Asn1381His)
c.*2460A>C (n.*2460A>C)
c.*2128A>C (n.*2128A>C)
c.*4664A>C (n.*4664A>C)
c.*2083A>C (n.*2083A>C)
c.3745A>C (p.Asn1249His)
n.7209A>C
c.4111A>C (p.Asn1371His)
c.3388A>C (p.Asn1130His)
c.1939A>C (p.Asn647His)
 gnomAD v4
2g.165374853A>GCA349031102SCN2Ac.4141A>G (p.Asn1381Asp)
c.*2460A>G (n.*2460A>G)
c.*2128A>G (n.*2128A>G)
c.*4664A>G (n.*4664A>G)
c.*2083A>G (n.*2083A>G)
c.3745A>G (p.Asn1249Asp)
n.7209A>G
c.4111A>G (p.Asn1371Asp)
c.3388A>G (p.Asn1130Asp)
c.1939A>G (p.Asn647Asp)
2g.165374853A>TCA349031103SCN2Ac.4141A>T (p.Asn1381Tyr)
c.*2460A>T (n.*2460A>T)
c.*2128A>T (n.*2128A>T)
c.*4664A>T (n.*4664A>T)
c.*2083A>T (n.*2083A>T)
c.3745A>T (p.Asn1249Tyr)
n.7209A>T
c.4111A>T (p.Asn1371Tyr)
c.3388A>T (p.Asn1130Tyr)
c.1939A>T (p.Asn647Tyr)
2g.165374853_165374854insGTGCACGCTTCA2740095789SCN2Ac.4141_4142insGTGCACGCTT (p.Asn1381SerfsTer8)
c.*2460_*2461insGTGCACGCTT (n.*2460_*2461insGTGCACGCTT)
c.*2128_*2129insGTGCACGCTT (n.*2128_*2129insGTGCACGCTT)
c.*4664_*4665insGTGCACGCTT (n.*4664_*4665insGTGCACGCTT)
c.*2083_*2084insGTGCACGCTT (n.*2083_*2084insGTGCACGCTT)
c.3745_3746insGTGCACGCTT (p.Asn1249SerfsTer8)
n.7209_7210insGTGCACGCTT
c.4111_4112insGTGCACGCTT (p.Asn1371SerfsTer8)
c.3388_3389insGTGCACGCTT (p.Asn1130SerfsTer8)
c.1939_1940insGTGCACGCTT (p.Asn647SerfsTer8)
 ClinVar
2g.165374854A>CCA349031108SCN2Ac.4142A>C (p.Asn1381Thr)
c.*2461A>C (n.*2461A>C)
c.*2129A>C (n.*2129A>C)
c.*4665A>C (n.*4665A>C)
c.*2084A>C (n.*2084A>C)
c.3746A>C (p.Asn1249Thr)
n.7210A>C
c.4112A>C (p.Asn1371Thr)
c.3389A>C (p.Asn1130Thr)
c.1940A>C (p.Asn647Thr)
2g.165374854A>GCA349031112SCN2Ac.4142A>G (p.Asn1381Ser)
c.*2461A>G (n.*2461A>G)
c.*2129A>G (n.*2129A>G)
c.*4665A>G (n.*4665A>G)
c.*2084A>G (n.*2084A>G)
c.3746A>G (p.Asn1249Ser)
n.7210A>G
c.4112A>G (p.Asn1371Ser)
c.3389A>G (p.Asn1130Ser)
c.1940A>G (p.Asn647Ser)
 ClinVar dbSNP gnomAD v4
2g.165374854A>TCA349031110SCN2Ac.4142A>T (p.Asn1381Ile)
c.*2461A>T (n.*2461A>T)
c.*2129A>T (n.*2129A>T)
c.*4665A>T (n.*4665A>T)
c.*2084A>T (n.*2084A>T)
c.3746A>T (p.Asn1249Ile)
n.7210A>T
c.4112A>T (p.Asn1371Ile)
c.3389A>T (p.Asn1130Ile)
c.1940A>T (p.Asn647Ile)
 COSMIC COSMIC
2g.165374855C>ACA349031115SCN2Ac.4143C>A (p.Asn1381Lys)
c.*2462C>A (n.*2462C>A)
c.*2130C>A (n.*2130C>A)
c.*4666C>A (n.*4666C>A)
c.*2085C>A (n.*2085C>A)
c.3747C>A (p.Asn1249Lys)
n.7211C>A
c.4113C>A (p.Asn1371Lys)
c.3390C>A (p.Asn1130Lys)
c.1941C>A (p.Asn647Lys)
2g.165374855C>GCA349031117SCN2Ac.4143C>G (p.Asn1381Lys)
c.*2462C>G (n.*2462C>G)
c.*2130C>G (n.*2130C>G)
c.*4666C>G (n.*4666C>G)
c.*2085C>G (n.*2085C>G)
c.3747C>G (p.Asn1249Lys)
n.7211C>G
c.4113C>G (p.Asn1371Lys)
c.3390C>G (p.Asn1130Lys)
c.1941C>G (p.Asn647Lys)
2g.165374855C>TCA429887113SCN2Ac.4143C>T (p.Asn1381=)
c.*2462C>T (n.*2462C>T)
c.*2130C>T (n.*2130C>T)
c.*4666C>T (n.*4666C>T)
c.*2085C>T (n.*2085C>T)
c.3747C>T (p.Asn1249=)
n.7211C>T
c.4113C>T (p.Asn1371=)
c.3390C>T (p.Asn1130=)
c.1941C>T (p.Asn647=)
2g.165374856A>CCA349031120SCN2Ac.4144A>C (p.Asn1382His)
c.*2463A>C (n.*2463A>C)
c.*2131A>C (n.*2131A>C)
c.*4667A>C (n.*4667A>C)
c.*2086A>C (n.*2086A>C)
c.3748A>C (p.Asn1250His)
n.7212A>C
c.4114A>C (p.Asn1372His)
c.3391A>C (p.Asn1131His)
c.1942A>C (p.Asn648His)
2g.165374856A>GCA349031123SCN2Ac.4144A>G (p.Asn1382Asp)
c.*2463A>G (n.*2463A>G)
c.*2131A>G (n.*2131A>G)
c.*4667A>G (n.*4667A>G)
c.*2086A>G (n.*2086A>G)
c.3748A>G (p.Asn1250Asp)
n.7212A>G
c.4114A>G (p.Asn1372Asp)
c.3391A>G (p.Asn1131Asp)
c.1942A>G (p.Asn648Asp)
2g.165374856A>TCA349031135SCN2Ac.4144A>T (p.Asn1382Tyr)
c.*2463A>T (n.*2463A>T)
c.*2131A>T (n.*2131A>T)
c.*4667A>T (n.*4667A>T)
c.*2086A>T (n.*2086A>T)
c.3748A>T (p.Asn1250Tyr)
n.7212A>T
c.4114A>T (p.Asn1372Tyr)
c.3391A>T (p.Asn1131Tyr)
c.1942A>T (p.Asn648Tyr)
2g.165374857A>CCA349031138SCN2Ac.4145A>C (p.Asn1382Thr)
c.*2464A>C (n.*2464A>C)
c.*2132A>C (n.*2132A>C)
c.*4668A>C (n.*4668A>C)
c.*2087A>C (n.*2087A>C)
c.3749A>C (p.Asn1250Thr)
n.7213A>C
c.4115A>C (p.Asn1372Thr)
c.3392A>C (p.Asn1131Thr)
c.1943A>C (p.Asn648Thr)
2g.165374857A>GCA349031141SCN2Ac.4145A>G (p.Asn1382Ser)
c.*2464A>G (n.*2464A>G)
c.*2132A>G (n.*2132A>G)
c.*4668A>G (n.*4668A>G)
c.*2087A>G (n.*2087A>G)
c.3749A>G (p.Asn1250Ser)
n.7213A>G
c.4115A>G (p.Asn1372Ser)
c.3392A>G (p.Asn1131Ser)
c.1943A>G (p.Asn648Ser)
2g.165374857A>TCA349031144SCN2Ac.4145A>T (p.Asn1382Ile)
c.*2464A>T (n.*2464A>T)
c.*2132A>T (n.*2132A>T)
c.*4668A>T (n.*4668A>T)
c.*2087A>T (n.*2087A>T)
c.3749A>T (p.Asn1250Ile)
n.7213A>T
c.4115A>T (p.Asn1372Ile)
c.3392A>T (p.Asn1131Ile)
c.1943A>T (p.Asn648Ile)
2g.165374858C>ACA349031148SCN2Ac.4146C>A (p.Asn1382Lys)
c.*2465C>A (n.*2465C>A)
c.*2133C>A (n.*2133C>A)
c.*4669C>A (n.*4669C>A)
c.*2088C>A (n.*2088C>A)
c.3750C>A (p.Asn1250Lys)
n.7214C>A
c.4116C>A (p.Asn1372Lys)
c.3393C>A (p.Asn1131Lys)
c.1944C>A (p.Asn648Lys)
2g.165374858C=CA1304559850SCN2Ac.4146C= (p.Asn1382=)
c.*2465C= (n.*2465C=)
c.*2133C= (n.*2133C=)
c.*4669C= (n.*4669C=)
c.*2088C= (n.*2088C=)
c.3750C= (p.Asn1250=)
n.7214C=
c.4116C= (p.Asn1372=)
c.3393C= (p.Asn1131=)
c.1944C= (p.Asn648=)
2g.165374858C>GCA349031152SCN2Ac.4146C>G (p.Asn1382Lys)
c.*2465C>G (n.*2465C>G)
c.*2133C>G (n.*2133C>G)
c.*4669C>G (n.*4669C>G)
c.*2088C>G (n.*2088C>G)
c.3750C>G (p.Asn1250Lys)
n.7214C>G
c.4116C>G (p.Asn1372Lys)
c.3393C>G (p.Asn1131Lys)
c.1944C>G (p.Asn648Lys)
2g.165374858C>TCA429887122SCN2Ac.4146C>T (p.Asn1382=)
c.*2465C>T (n.*2465C>T)
c.*2133C>T (n.*2133C>T)
c.*4669C>T (n.*4669C>T)
c.*2088C>T (n.*2088C>T)
c.3750C>T (p.Asn1250=)
n.7214C>T
c.4116C>T (p.Asn1372=)
c.3393C>T (p.Asn1131=)
c.1944C>T (p.Asn648=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165374858_165374859insAAATATTTACTCA537121521SCN2Ac.4146_4147insAAATATTTACT (p.Tyr1383LysfsTer23)
c.*2465_*2466insAAATATTTACT (n.*2465_*2466insAAATATTTACT)
c.*2133_*2134insAAATATTTACT (n.*2133_*2134insAAATATTTACT)
c.*4669_*4670insAAATATTTACT (n.*4669_*4670insAAATATTTACT)
c.*2088_*2089insAAATATTTACT (n.*2088_*2089insAAATATTTACT)
c.3750_3751insAAATATTTACT (p.Tyr1251LysfsTer23)
n.7214_7215insAAATATTTACT
c.4116_4117insAAATATTTACT (p.Tyr1373LysfsTer23)
c.3393_3394insAAATATTTACT (p.Tyr1132LysfsTer23)
c.1944_1945insAAATATTTACT (p.Tyr649LysfsTer23)
 gnomAD v2
2g.165374858_165374859insAAATATTTACTTACA2542020813SCN2Ac.4146_4147insAAATATTTACTTA (p.Tyr1383LysfsTer7)
c.*2465_*2466insAAATATTTACTTA (n.*2465_*2466insAAATATTTACTTA)
c.*2133_*2134insAAATATTTACTTA (n.*2133_*2134insAAATATTTACTTA)
c.*4669_*4670insAAATATTTACTTA (n.*4669_*4670insAAATATTTACTTA)
c.*2088_*2089insAAATATTTACTTA (n.*2088_*2089insAAATATTTACTTA)
c.3750_3751insAAATATTTACTTA (p.Tyr1251LysfsTer7)
n.7214_7215insAAATATTTACTTA
c.4116_4117insAAATATTTACTTA (p.Tyr1373LysfsTer7)
c.3393_3394insAAATATTTACTTA (p.Tyr1132LysfsTer7)
c.1944_1945insAAATATTTACTTA (p.Tyr649LysfsTer7)
2g.165374859T>ACA349031157SCN2Ac.4147T>A (p.Tyr1383Asn)
c.*2466T>A (n.*2466T>A)
c.*2134T>A (n.*2134T>A)
c.*4670T>A (n.*4670T>A)
c.*2089T>A (n.*2089T>A)
c.3751T>A (p.Tyr1251Asn)
n.7215T>A
c.4117T>A (p.Tyr1373Asn)
c.3394T>A (p.Tyr1132Asn)
c.1945T>A (p.Tyr649Asn)
2g.165374859T>CCA349031159SCN2Ac.4147T>C (p.Tyr1383His)
c.*2466T>C (n.*2466T>C)
c.*2134T>C (n.*2134T>C)
c.*4670T>C (n.*4670T>C)
c.*2089T>C (n.*2089T>C)
c.3751T>C (p.Tyr1251His)
n.7215T>C
c.4117T>C (p.Tyr1373His)
c.3394T>C (p.Tyr1132His)
c.1945T>C (p.Tyr649His)
2g.165374859T>GCA349031155SCN2Ac.4147T>G (p.Tyr1383Asp)
c.*2466T>G (n.*2466T>G)
c.*2134T>G (n.*2134T>G)
c.*4670T>G (n.*4670T>G)
c.*2089T>G (n.*2089T>G)
c.3751T>G (p.Tyr1251Asp)
n.7215T>G
c.4117T>G (p.Tyr1373Asp)
c.3394T>G (p.Tyr1132Asp)
c.1945T>G (p.Tyr649Asp)
2g.165374860A>CCA349031166SCN2Ac.4148A>C (p.Tyr1383Ser)
c.*2467A>C (n.*2467A>C)
c.*2135A>C (n.*2135A>C)
c.*4671A>C (n.*4671A>C)
c.*2090A>C (n.*2090A>C)
c.3752A>C (p.Tyr1251Ser)
n.7216A>C
c.4118A>C (p.Tyr1373Ser)
c.3395A>C (p.Tyr1132Ser)
c.1946A>C (p.Tyr649Ser)
2g.165374860A>GCA349031161SCN2Ac.4148A>G (p.Tyr1383Cys)
c.*2467A>G (n.*2467A>G)
c.*2135A>G (n.*2135A>G)
c.*4671A>G (n.*4671A>G)
c.*2090A>G (n.*2090A>G)
c.3752A>G (p.Tyr1251Cys)
n.7216A>G
c.4118A>G (p.Tyr1373Cys)
c.3395A>G (p.Tyr1132Cys)
c.1946A>G (p.Tyr649Cys)
2g.165374860A>TCA349031163SCN2Ac.4148A>T (p.Tyr1383Phe)
c.*2467A>T (n.*2467A>T)
c.*2135A>T (n.*2135A>T)
c.*4671A>T (n.*4671A>T)
c.*2090A>T (n.*2090A>T)
c.3752A>T (p.Tyr1251Phe)
n.7216A>T
c.4118A>T (p.Tyr1373Phe)
c.3395A>T (p.Tyr1132Phe)
c.1946A>T (p.Tyr649Phe)
2g.165374861C>ACA349031169SCN2Ac.4149C>A (p.Tyr1383Ter)
c.*2468C>A (n.*2468C>A)
c.*2136C>A (n.*2136C>A)
c.*4672C>A (n.*4672C>A)
c.*2091C>A (n.*2091C>A)
c.3753C>A (p.Tyr1251Ter)
n.7217C>A
c.4119C>A (p.Tyr1373Ter)
c.3396C>A (p.Tyr1132Ter)
c.1947C>A (p.Tyr649Ter)
2g.165374861C>GCA349031170SCN2Ac.4149C>G (p.Tyr1383Ter)
c.*2468C>G (n.*2468C>G)
c.*2136C>G (n.*2136C>G)
c.*4672C>G (n.*4672C>G)
c.*2091C>G (n.*2091C>G)
c.3753C>G (p.Tyr1251Ter)
n.7217C>G
c.4119C>G (p.Tyr1373Ter)
c.3396C>G (p.Tyr1132Ter)
c.1947C>G (p.Tyr649Ter)
2g.165374861C>TCA429887131SCN2Ac.4149C>T (p.Tyr1383=)
c.*2468C>T (n.*2468C>T)
c.*2136C>T (n.*2136C>T)
c.*4672C>T (n.*4672C>T)
c.*2091C>T (n.*2091C>T)
c.3753C>T (p.Tyr1251=)
n.7217C>T
c.4119C>T (p.Tyr1373=)
c.3396C>T (p.Tyr1132=)
c.1947C>T (p.Tyr649=)
2g.165374862A>CCA349031171SCN2Ac.4150A>C (p.Ser1384Arg)
c.*2469A>C (n.*2469A>C)
c.*2137A>C (n.*2137A>C)
c.*4673A>C (n.*4673A>C)
c.*2092A>C (n.*2092A>C)
c.3754A>C (p.Ser1252Arg)
n.7218A>C
c.4120A>C (p.Ser1374Arg)
c.3397A>C (p.Ser1133Arg)
c.1948A>C (p.Ser650Arg)
2g.165374862A>GCA349031172SCN2Ac.4150A>G (p.Ser1384Gly)
c.*2469A>G (n.*2469A>G)
c.*2137A>G (n.*2137A>G)
c.*4673A>G (n.*4673A>G)
c.*2092A>G (n.*2092A>G)
c.3754A>G (p.Ser1252Gly)
n.7218A>G
c.4120A>G (p.Ser1374Gly)
c.3397A>G (p.Ser1133Gly)
c.1948A>G (p.Ser650Gly)
2g.165374862A>TCA349031174SCN2Ac.4150A>T (p.Ser1384Cys)
c.*2469A>T (n.*2469A>T)
c.*2137A>T (n.*2137A>T)
c.*4673A>T (n.*4673A>T)
c.*2092A>T (n.*2092A>T)
c.3754A>T (p.Ser1252Cys)
n.7218A>T
c.4120A>T (p.Ser1374Cys)
c.3397A>T (p.Ser1133Cys)
c.1948A>T (p.Ser650Cys)
2g.165374863G>ACA349031176SCN2Ac.4151G>A (p.Ser1384Asn)
c.*2470G>A (n.*2470G>A)
c.*2138G>A (n.*2138G>A)
c.*4674G>A (n.*4674G>A)
c.*2093G>A (n.*2093G>A)
c.3755G>A (p.Ser1252Asn)
n.7219G>A
c.4121G>A (p.Ser1374Asn)
c.3398G>A (p.Ser1133Asn)
c.1949G>A (p.Ser650Asn)
 gnomAD v4
2g.165374863G>CCA349031178SCN2Ac.4151G>C (p.Ser1384Thr)
c.*2470G>C (n.*2470G>C)
c.*2138G>C (n.*2138G>C)
c.*4674G>C (n.*4674G>C)
c.*2093G>C (n.*2093G>C)
c.3755G>C (p.Ser1252Thr)
n.7219G>C
c.4121G>C (p.Ser1374Thr)
c.3398G>C (p.Ser1133Thr)
c.1949G>C (p.Ser650Thr)
2g.165374863G>TCA349031180SCN2Ac.4151G>T (p.Ser1384Ile)
c.*2470G>T (n.*2470G>T)
c.*2138G>T (n.*2138G>T)
c.*4674G>T (n.*4674G>T)
c.*2093G>T (n.*2093G>T)
c.3755G>T (p.Ser1252Ile)
n.7219G>T
c.4121G>T (p.Ser1374Ile)
c.3398G>T (p.Ser1133Ile)
c.1949G>T (p.Ser650Ile)
2g.165374864T>ACA349031182SCN2Ac.4152T>A (p.Ser1384Arg)
c.*2471T>A (n.*2471T>A)
c.*2139T>A (n.*2139T>A)
c.*4675T>A (n.*4675T>A)
c.*2094T>A (n.*2094T>A)
c.3756T>A (p.Ser1252Arg)
n.7220T>A
c.4122T>A (p.Ser1374Arg)
c.3399T>A (p.Ser1133Arg)
c.1950T>A (p.Ser650Arg)
2g.165374864T>CCA429887139SCN2Ac.4152T>C (p.Ser1384=)
c.*2471T>C (n.*2471T>C)
c.*2139T>C (n.*2139T>C)
c.*4675T>C (n.*4675T>C)
c.*2094T>C (n.*2094T>C)
c.3756T>C (p.Ser1252=)
n.7220T>C
c.4122T>C (p.Ser1374=)
c.3399T>C (p.Ser1133=)
c.1950T>C (p.Ser650=)
2g.165374864T>GCA349031183SCN2Ac.4152T>G (p.Ser1384Arg)
c.*2471T>G (n.*2471T>G)
c.*2139T>G (n.*2139T>G)
c.*4675T>G (n.*4675T>G)
c.*2094T>G (n.*2094T>G)
c.3756T>G (p.Ser1252Arg)
n.7220T>G
c.4122T>G (p.Ser1374Arg)
c.3399T>G (p.Ser1133Arg)
c.1950T>G (p.Ser650Arg)
2g.165374865G>ACA349031186SCN2Ac.4153G>A (p.Glu1385Lys)
c.*2472G>A (n.*2472G>A)
c.*2140G>A (n.*2140G>A)
c.*4676G>A (n.*4676G>A)
c.*2095G>A (n.*2095G>A)
c.3757G>A (p.Glu1253Lys)
n.7221G>A
c.4123G>A (p.Glu1375Lys)
c.3400G>A (p.Glu1134Lys)
c.1951G>A (p.Glu651Lys)
2g.165374865G>CCA349031188SCN2Ac.4153G>C (p.Glu1385Gln)
c.*2472G>C (n.*2472G>C)
c.*2140G>C (n.*2140G>C)
c.*4676G>C (n.*4676G>C)
c.*2095G>C (n.*2095G>C)
c.3757G>C (p.Glu1253Gln)
n.7221G>C
c.4123G>C (p.Glu1375Gln)
c.3400G>C (p.Glu1134Gln)
c.1951G>C (p.Glu651Gln)
2g.165374865G=CA1304559852SCN2Ac.4153G= (p.Glu1385=)
c.*2472G= (n.*2472G=)
c.*2140G= (n.*2140G=)
c.*4676G= (n.*4676G=)
c.*2095G= (n.*2095G=)
c.3757G= (p.Glu1253=)
n.7221G=
c.4123G= (p.Glu1375=)
c.3400G= (p.Glu1134=)
c.1951G= (p.Glu651=)
2g.165374865G>TCA349031185SCN2Ac.4153G>T (p.Glu1385Ter)
c.*2472G>T (n.*2472G>T)
c.*2140G>T (n.*2140G>T)
c.*4676G>T (n.*4676G>T)
c.*2095G>T (n.*2095G>T)
c.3757G>T (p.Glu1253Ter)
n.7221G>T
c.4123G>T (p.Glu1375Ter)
c.3400G>T (p.Glu1134Ter)
c.1951G>T (p.Glu651Ter)
 dbSNP
2g.165374866A>CCA349031190SCN2Ac.4154A>C (p.Glu1385Ala)
c.*2473A>C (n.*2473A>C)
c.*2141A>C (n.*2141A>C)
c.*4677A>C (n.*4677A>C)
c.*2096A>C (n.*2096A>C)
c.3758A>C (p.Glu1253Ala)
n.7222A>C
c.4124A>C (p.Glu1375Ala)
c.3401A>C (p.Glu1134Ala)
c.1952A>C (p.Glu651Ala)
2g.165374866A>GCA349031191SCN2Ac.4154A>G (p.Glu1385Gly)
c.*2473A>G (n.*2473A>G)
c.*2141A>G (n.*2141A>G)
c.*4677A>G (n.*4677A>G)
c.*2096A>G (n.*2096A>G)
c.3758A>G (p.Glu1253Gly)
n.7222A>G
c.4124A>G (p.Glu1375Gly)
c.3401A>G (p.Glu1134Gly)
c.1952A>G (p.Glu651Gly)
2g.165374866A>TCA349031193SCN2Ac.4154A>T (p.Glu1385Val)
c.*2473A>T (n.*2473A>T)
c.*2141A>T (n.*2141A>T)
c.*4677A>T (n.*4677A>T)
c.*2096A>T (n.*2096A>T)
c.3758A>T (p.Glu1253Val)
n.7222A>T
c.4124A>T (p.Glu1375Val)
c.3401A>T (p.Glu1134Val)
c.1952A>T (p.Glu651Val)
2g.165374867G>ACA429887146SCN2Ac.4155G>A (p.Glu1385=)
c.*2474G>A (n.*2474G>A)
c.*2142G>A (n.*2142G>A)
c.*4678G>A (n.*4678G>A)
c.*2097G>A (n.*2097G>A)
c.3759G>A (p.Glu1253=)
n.7223G>A
c.4125G>A (p.Glu1375=)
c.3402G>A (p.Glu1134=)
c.1953G>A (p.Glu651=)
 dbSNP gnomAD v3 gnomAD v4
2g.165374867G>CCA349031195SCN2Ac.4155G>C (p.Glu1385Asp)
c.*2474G>C (n.*2474G>C)
c.*2142G>C (n.*2142G>C)
c.*4678G>C (n.*4678G>C)
c.*2097G>C (n.*2097G>C)
c.3759G>C (p.Glu1253Asp)
n.7223G>C
c.4125G>C (p.Glu1375Asp)
c.3402G>C (p.Glu1134Asp)
c.1953G>C (p.Glu651Asp)
2g.165374867G=CA1304559855SCN2Ac.4155G= (p.Glu1385=)
c.*2474G= (n.*2474G=)
c.*2142G= (n.*2142G=)
c.*4678G= (n.*4678G=)
c.*2097G= (n.*2097G=)
c.3759G= (p.Glu1253=)
n.7223G=
c.4125G= (p.Glu1375=)
c.3402G= (p.Glu1134=)
c.1953G= (p.Glu651=)
2g.165374867G>TCA349031198SCN2Ac.4155G>T (p.Glu1385Asp)
c.*2474G>T (n.*2474G>T)
c.*2142G>T (n.*2142G>T)
c.*4678G>T (n.*4678G>T)
c.*2097G>T (n.*2097G>T)
c.3759G>T (p.Glu1253Asp)
n.7223G>T
c.4125G>T (p.Glu1375Asp)
c.3402G>T (p.Glu1134Asp)
c.1953G>T (p.Glu651Asp)
2g.165374868T>ACA349031205SCN2Ac.4156T>A (p.Cys1386Ser)
c.*2475T>A (n.*2475T>A)
c.*2143T>A (n.*2143T>A)
c.*4679T>A (n.*4679T>A)
c.*2098T>A (n.*2098T>A)
c.3760T>A (p.Cys1254Ser)
n.7224T>A
c.4126T>A (p.Cys1376Ser)
c.3403T>A (p.Cys1135Ser)
c.1954T>A (p.Cys652Ser)
2g.165374868T>CCA349031201SCN2Ac.4156T>C (p.Cys1386Arg)
c.*2475T>C (n.*2475T>C)
c.*2143T>C (n.*2143T>C)
c.*4679T>C (n.*4679T>C)
c.*2098T>C (n.*2098T>C)
c.3760T>C (p.Cys1254Arg)
n.7224T>C
c.4126T>C (p.Cys1376Arg)
c.3403T>C (p.Cys1135Arg)
c.1954T>C (p.Cys652Arg)
 ClinVar dbSNP
2g.165374868T>GCA242227SCN2Ac.4156T>G (p.Cys1386Gly)
c.*2475T>G (n.*2475T>G)
c.*2143T>G (n.*2143T>G)
c.*4679T>G (n.*4679T>G)
c.*2098T>G (n.*2098T>G)
c.3760T>G (p.Cys1254Gly)
n.7224T>G
c.4126T>G (p.Cys1376Gly)
c.3403T>G (p.Cys1135Gly)
c.1954T>G (p.Cys652Gly)
 ClinVar dbSNP
2g.165374868T=CA1304559858SCN2Ac.4156T= (p.Cys1386=)
c.*2475T= (n.*2475T=)
c.*2143T= (n.*2143T=)
c.*4679T= (n.*4679T=)
c.*2098T= (n.*2098T=)
c.3760T= (p.Cys1254=)
n.7224T=
c.4126T= (p.Cys1376=)
c.3403T= (p.Cys1135=)
c.1954T= (p.Cys652=)
2g.165374869G>ACA16603824SCN2Ac.4157G>A (p.Cys1386Tyr)
c.*2476G>A (n.*2476G>A)
c.*2144G>A (n.*2144G>A)
c.*4680G>A (n.*4680G>A)
c.*2099G>A (n.*2099G>A)
c.3761G>A (p.Cys1254Tyr)
n.7225G>A
c.4127G>A (p.Cys1376Tyr)
c.3404G>A (p.Cys1135Tyr)
c.1955G>A (p.Cys652Tyr)
 ClinVar dbSNP gnomAD v2
2g.165374869G>CCA349031209SCN2Ac.4157G>C (p.Cys1386Ser)
c.*2476G>C (n.*2476G>C)
c.*2144G>C (n.*2144G>C)
c.*4680G>C (n.*4680G>C)
c.*2099G>C (n.*2099G>C)
c.3761G>C (p.Cys1254Ser)
n.7225G>C
c.4127G>C (p.Cys1376Ser)
c.3404G>C (p.Cys1135Ser)
c.1955G>C (p.Cys652Ser)
2g.165374869G=CA1304559864SCN2Ac.4157G= (p.Cys1386=)
c.*2476G= (n.*2476G=)
c.*2144G= (n.*2144G=)
c.*4680G= (n.*4680G=)
c.*2099G= (n.*2099G=)
c.3761G= (p.Cys1254=)
n.7225G=
c.4127G= (p.Cys1376=)
c.3404G= (p.Cys1135=)
c.1955G= (p.Cys652=)
2g.165374869G>TCA349031211SCN2Ac.4157G>T (p.Cys1386Phe)
c.*2476G>T (n.*2476G>T)
c.*2144G>T (n.*2144G>T)
c.*4680G>T (n.*4680G>T)
c.*2099G>T (n.*2099G>T)
c.3761G>T (p.Cys1254Phe)
n.7225G>T
c.4127G>T (p.Cys1376Phe)
c.3404G>T (p.Cys1135Phe)
c.1955G>T (p.Cys652Phe)

Number of alleles fetched