Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165344527T>CCA2577142739SCN2Ac.2563-28T>C (n.2563-28T>C)
c.*882-28T>C (n.*882-28T>C)
c.*550-28T>C (n.*550-28T>C)
c.*3086-28T>C (n.*3086-28T>C)
c.*505-28T>C (n.*505-28T>C)
c.2167-28T>C (n.2167-28T>C)
c.414-28T>C
n.2706-28T>C
c.2533-28T>C (n.2533-28T>C)
c.1810-28T>C (n.1810-28T>C)
c.361-28T>C (n.361-28T>C)
 gnomAD v4
2g.165344529A=CA1304545431SCN2Ac.2563-26A= (n.2563-26A=)
c.*882-26A= (n.*882-26A=)
c.*550-26A= (n.*550-26A=)
c.*3086-26A= (n.*3086-26A=)
c.*505-26A= (n.*505-26A=)
c.2167-26A= (n.2167-26A=)
c.414-26A=
n.2706-26A=
c.2533-26A= (n.2533-26A=)
c.1810-26A= (n.1810-26A=)
c.361-26A= (n.361-26A=)
2g.165344529A>GCA2661739091SCN2Ac.2563-26A>G (n.2563-26A>G)
c.*882-26A>G (n.*882-26A>G)
c.*550-26A>G (n.*550-26A>G)
c.*3086-26A>G (n.*3086-26A>G)
c.*505-26A>G (n.*505-26A>G)
c.2167-26A>G (n.2167-26A>G)
c.414-26A>G
n.2706-26A>G
c.2533-26A>G (n.2533-26A>G)
c.1810-26A>G (n.1810-26A>G)
c.361-26A>G (n.361-26A>G)
 gnomAD v4
2g.165344529A>TCA1940006SCN2Ac.2563-26A>T (n.2563-26A>T)
c.*882-26A>T (n.*882-26A>T)
c.*550-26A>T (n.*550-26A>T)
c.*3086-26A>T (n.*3086-26A>T)
c.*505-26A>T (n.*505-26A>T)
c.2167-26A>T (n.2167-26A>T)
c.414-26A>T
n.2706-26A>T
c.2533-26A>T (n.2533-26A>T)
c.1810-26A>T (n.1810-26A>T)
c.361-26A>T (n.361-26A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344529_165344535delCA2541279560SCN2Ac.2563-26_2563-20del (n.2563-26_2563-20del)
c.*882-26_*882-20del (n.*882-26_*882-20del)
c.*550-26_*550-20del (n.*550-26_*550-20del)
c.*3086-26_*3086-20del (n.*3086-26_*3086-20del)
c.*505-26_*505-20del (n.*505-26_*505-20del)
c.2167-26_2167-20del (n.2167-26_2167-20del)
c.414-26_414-20del
n.2706-26_2706-20del
c.2533-26_2533-20del (n.2533-26_2533-20del)
c.1810-26_1810-20del (n.1810-26_1810-20del)
c.361-26_361-20del (n.361-26_361-20del)
2g.165344532A>GCA2753007922SCN2Ac.2563-23A>G (n.2563-23A>G)
c.*882-23A>G (n.*882-23A>G)
c.*550-23A>G (n.*550-23A>G)
c.*3086-23A>G (n.*3086-23A>G)
c.*505-23A>G (n.*505-23A>G)
c.2167-23A>G (n.2167-23A>G)
c.414-23A>G
n.2706-23A>G
c.2533-23A>G (n.2533-23A>G)
c.1810-23A>G (n.1810-23A>G)
c.361-23A>G (n.361-23A>G)
2g.165344533C>ACA2661739092SCN2Ac.2563-22C>A (n.2563-22C>A)
c.*882-22C>A (n.*882-22C>A)
c.*550-22C>A (n.*550-22C>A)
c.*3086-22C>A (n.*3086-22C>A)
c.*505-22C>A (n.*505-22C>A)
c.2167-22C>A (n.2167-22C>A)
c.414-22C>A
n.2706-22C>A
c.2533-22C>A (n.2533-22C>A)
c.1810-22C>A (n.1810-22C>A)
c.361-22C>A (n.361-22C>A)
 gnomAD v4
2g.165344534T>CCA1940007SCN2Ac.2563-21T>C (n.2563-21T>C)
c.*882-21T>C (n.*882-21T>C)
c.*550-21T>C (n.*550-21T>C)
c.*3086-21T>C (n.*3086-21T>C)
c.*505-21T>C (n.*505-21T>C)
c.2167-21T>C (n.2167-21T>C)
c.414-21T>C
n.2706-21T>C
c.2533-21T>C (n.2533-21T>C)
c.1810-21T>C (n.1810-21T>C)
c.361-21T>C (n.361-21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344534T=CA1304545432SCN2Ac.2563-21T= (n.2563-21T=)
c.*882-21T= (n.*882-21T=)
c.*550-21T= (n.*550-21T=)
c.*3086-21T= (n.*3086-21T=)
c.*505-21T= (n.*505-21T=)
c.2167-21T= (n.2167-21T=)
c.414-21T=
n.2706-21T=
c.2533-21T= (n.2533-21T=)
c.1810-21T= (n.1810-21T=)
c.361-21T= (n.361-21T=)
2g.165344535_165344536delinsGTCA1304545433SCN2Ac.2563-20_2563-19delinsGT (n.2563-20_2563-19delinsGT)
c.*882-20_*882-19delinsGT (n.*882-20_*882-19delinsGT)
c.*550-20_*550-19delinsGT (n.*550-20_*550-19delinsGT)
c.*3086-20_*3086-19delinsGT (n.*3086-20_*3086-19delinsGT)
c.*505-20_*505-19delinsGT (n.*505-20_*505-19delinsGT)
c.2167-20_2167-19delinsGT (n.2167-20_2167-19delinsGT)
c.414-20_414-19delinsGT
n.2706-20_2706-19delinsGT
c.2533-20_2533-19delinsGT (n.2533-20_2533-19delinsGT)
c.1810-20_1810-19delinsGT (n.1810-20_1810-19delinsGT)
c.361-20_361-19delinsGT (n.361-20_361-19delinsGT)
2g.165344537delCA760109228SCN2Ac.2563-18del (n.2563-18del)
c.*882-18del (n.*882-18del)
c.*550-18del (n.*550-18del)
c.*3086-18del (n.*3086-18del)
c.*505-18del (n.*505-18del)
c.2167-18del (n.2167-18del)
c.414-18del
n.2706-18del
c.2533-18del (n.2533-18del)
c.1810-18del (n.1810-18del)
c.361-18del (n.361-18del)
 dbSNP gnomAD v4
2g.165344537T>CCA2661739093SCN2Ac.2563-18T>C (n.2563-18T>C)
c.*882-18T>C (n.*882-18T>C)
c.*550-18T>C (n.*550-18T>C)
c.*3086-18T>C (n.*3086-18T>C)
c.*505-18T>C (n.*505-18T>C)
c.2167-18T>C (n.2167-18T>C)
c.414-18T>C
n.2706-18T>C
c.2533-18T>C (n.2533-18T>C)
c.1810-18T>C (n.1810-18T>C)
c.361-18T>C (n.361-18T>C)
 gnomAD v4
2g.165344541_165344543dupCA2577142740SCN2Ac.2563-14_2563-12dup (n.2563-14_2563-12dup)
c.*882-14_*882-12dup (n.*882-14_*882-12dup)
c.*550-14_*550-12dup (n.*550-14_*550-12dup)
c.*3086-14_*3086-12dup (n.*3086-14_*3086-12dup)
c.*505-14_*505-12dup (n.*505-14_*505-12dup)
c.2167-14_2167-12dup (n.2167-14_2167-12dup)
c.414-14_414-12dup
n.2706-14_2706-12dup
c.2533-14_2533-12dup (n.2533-14_2533-12dup)
c.1810-14_1810-12dup (n.1810-14_1810-12dup)
c.361-14_361-12dup (n.361-14_361-12dup)
2g.165344542C=CA1304545434SCN2Ac.2563-13C= (n.2563-13C=)
c.*882-13C= (n.*882-13C=)
c.*550-13C= (n.*550-13C=)
c.*3086-13C= (n.*3086-13C=)
c.*505-13C= (n.*505-13C=)
c.2167-13C= (n.2167-13C=)
c.414-13C=
n.2706-13C=
c.2533-13C= (n.2533-13C=)
c.1810-13C= (n.1810-13C=)
c.361-13C= (n.361-13C=)
2g.165344542C>GCA1304545435SCN2Ac.2563-13C>G (n.2563-13C>G)
c.*882-13C>G (n.*882-13C>G)
c.*550-13C>G (n.*550-13C>G)
c.*3086-13C>G (n.*3086-13C>G)
c.*505-13C>G (n.*505-13C>G)
c.2167-13C>G (n.2167-13C>G)
c.414-13C>G
n.2706-13C>G
c.2533-13C>G (n.2533-13C>G)
c.1810-13C>G (n.1810-13C>G)
c.361-13C>G (n.361-13C>G)
 dbSNP
2g.165344542C>TCA2573133609SCN2Ac.2563-13C>T (n.2563-13C>T)
c.*882-13C>T (n.*882-13C>T)
c.*550-13C>T (n.*550-13C>T)
c.*3086-13C>T (n.*3086-13C>T)
c.*505-13C>T (n.*505-13C>T)
c.2167-13C>T (n.2167-13C>T)
c.414-13C>T
n.2706-13C>T
c.2533-13C>T (n.2533-13C>T)
c.1810-13C>T (n.1810-13C>T)
c.361-13C>T (n.361-13C>T)
 ClinVar dbSNP gnomAD v4
2g.165344546T>CCA2562283021SCN2Ac.2563-9T>C (n.2563-9T>C)
c.*882-9T>C (n.*882-9T>C)
c.*550-9T>C (n.*550-9T>C)
c.*3086-9T>C (n.*3086-9T>C)
c.*505-9T>C (n.*505-9T>C)
c.2167-9T>C (n.2167-9T>C)
c.414-9T>C
n.2706-9T>C
c.2533-9T>C (n.2533-9T>C)
c.1810-9T>C (n.1810-9T>C)
c.361-9T>C (n.361-9T>C)
2g.165344547A=CA1304545437SCN2Ac.2563-8A= (n.2563-8A=)
c.*882-8A= (n.*882-8A=)
c.*550-8A= (n.*550-8A=)
c.*3086-8A= (n.*3086-8A=)
c.*505-8A= (n.*505-8A=)
c.2167-8A= (n.2167-8A=)
c.414-8A=
n.2706-8A=
c.2533-8A= (n.2533-8A=)
c.1810-8A= (n.1810-8A=)
c.361-8A= (n.361-8A=)
2g.165344547A>GCA1304545436SCN2Ac.2563-8A>G (n.2563-8A>G)
c.*882-8A>G (n.*882-8A>G)
c.*550-8A>G (n.*550-8A>G)
c.*3086-8A>G (n.*3086-8A>G)
c.*505-8A>G (n.*505-8A>G)
c.2167-8A>G (n.2167-8A>G)
c.414-8A>G
n.2706-8A>G
c.2533-8A>G (n.2533-8A>G)
c.1810-8A>G (n.1810-8A>G)
c.361-8A>G (n.361-8A>G)
 dbSNP
2g.165344549T>ACA2514154152SCN2Ac.2563-6T>A (n.2563-6T>A)
c.*882-6T>A (n.*882-6T>A)
c.*550-6T>A (n.*550-6T>A)
c.*3086-6T>A (n.*3086-6T>A)
c.*505-6T>A (n.*505-6T>A)
c.2167-6T>A (n.2167-6T>A)
c.414-6T>A
n.2706-6T>A
c.2533-6T>A (n.2533-6T>A)
c.1810-6T>A (n.1810-6T>A)
c.361-6T>A (n.361-6T>A)
2g.165344551C>ACA206126SCN2Ac.2563-4C>A (n.2563-4C>A)
c.*882-4C>A (n.*882-4C>A)
c.*550-4C>A (n.*550-4C>A)
c.*3086-4C>A (n.*3086-4C>A)
c.*505-4C>A (n.*505-4C>A)
c.2167-4C>A (n.2167-4C>A)
c.414-4C>A
n.2706-4C>A
c.2533-4C>A (n.2533-4C>A)
c.1810-4C>A (n.1810-4C>A)
c.361-4C>A (n.361-4C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344551C=CA1304545438SCN2Ac.2563-4C= (n.2563-4C=)
c.*882-4C= (n.*882-4C=)
c.*550-4C= (n.*550-4C=)
c.*3086-4C= (n.*3086-4C=)
c.*505-4C= (n.*505-4C=)
c.2167-4C= (n.2167-4C=)
c.414-4C=
n.2706-4C=
c.2533-4C= (n.2533-4C=)
c.1810-4C= (n.1810-4C=)
c.361-4C= (n.361-4C=)
2g.165344551C>TCA537117856SCN2Ac.2563-4C>T (n.2563-4C>T)
c.*882-4C>T (n.*882-4C>T)
c.*550-4C>T (n.*550-4C>T)
c.*3086-4C>T (n.*3086-4C>T)
c.*505-4C>T (n.*505-4C>T)
c.2167-4C>T (n.2167-4C>T)
c.414-4C>T
n.2706-4C>T
c.2533-4C>T (n.2533-4C>T)
c.1810-4C>T (n.1810-4C>T)
c.361-4C>T (n.361-4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165344552C=CA1304545439SCN2Ac.2563-3C= (n.2563-3C=)
c.*882-3C= (n.*882-3C=)
c.*550-3C= (n.*550-3C=)
c.*3086-3C= (n.*3086-3C=)
c.*505-3C= (n.*505-3C=)
c.2167-3C= (n.2167-3C=)
c.414-3C=
n.2706-3C=
c.2533-3C= (n.2533-3C=)
c.1810-3C= (n.1810-3C=)
c.361-3C= (n.361-3C=)
2g.165344552C>TCA1940008SCN2Ac.2563-3C>T (n.2563-3C>T)
c.*882-3C>T (n.*882-3C>T)
c.*550-3C>T (n.*550-3C>T)
c.*3086-3C>T (n.*3086-3C>T)
c.*505-3C>T (n.*505-3C>T)
c.2167-3C>T (n.2167-3C>T)
c.414-3C>T
n.2706-3C>T
c.2533-3C>T (n.2533-3C>T)
c.1810-3C>T (n.1810-3C>T)
c.361-3C>T (n.361-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165344553A>CCA349013068SCN2Ac.2563-2A>C (n.2563-2A>C)
c.*882-2A>C (n.*882-2A>C)
c.*550-2A>C (n.*550-2A>C)
c.*3086-2A>C (n.*3086-2A>C)
c.*505-2A>C (n.*505-2A>C)
c.2167-2A>C (n.2167-2A>C)
c.414-2A>C
n.2706-2A>C
c.2533-2A>C (n.2533-2A>C)
c.1810-2A>C (n.1810-2A>C)
c.361-2A>C (n.361-2A>C)
2g.165344553A>GCA349013070SCN2Ac.2563-2A>G (n.2563-2A>G)
c.*882-2A>G (n.*882-2A>G)
c.*550-2A>G (n.*550-2A>G)
c.*3086-2A>G (n.*3086-2A>G)
c.*505-2A>G (n.*505-2A>G)
c.2167-2A>G (n.2167-2A>G)
c.414-2A>G
n.2706-2A>G
c.2533-2A>G (n.2533-2A>G)
c.1810-2A>G (n.1810-2A>G)
c.361-2A>G (n.361-2A>G)
2g.165344553A>TCA349013071SCN2Ac.2563-2A>T (n.2563-2A>T)
c.*882-2A>T (n.*882-2A>T)
c.*550-2A>T (n.*550-2A>T)
c.*3086-2A>T (n.*3086-2A>T)
c.*505-2A>T (n.*505-2A>T)
c.2167-2A>T (n.2167-2A>T)
c.414-2A>T
n.2706-2A>T
c.2533-2A>T (n.2533-2A>T)
c.1810-2A>T (n.1810-2A>T)
c.361-2A>T (n.361-2A>T)
2g.165344554G>ACA349013074SCN2Ac.2563-1G>A (n.2563-1G>A)
c.*882-1G>A (n.*882-1G>A)
c.*550-1G>A (n.*550-1G>A)
c.*3086-1G>A (n.*3086-1G>A)
c.*505-1G>A (n.*505-1G>A)
c.2167-1G>A (n.2167-1G>A)
c.414-1G>A
n.2706-1G>A
c.2533-1G>A (n.2533-1G>A)
c.1810-1G>A (n.1810-1G>A)
c.361-1G>A (n.361-1G>A)
2g.165344554G>CCA349013077SCN2Ac.2563-1G>C (n.2563-1G>C)
c.*882-1G>C (n.*882-1G>C)
c.*550-1G>C (n.*550-1G>C)
c.*3086-1G>C (n.*3086-1G>C)
c.*505-1G>C (n.*505-1G>C)
c.2167-1G>C (n.2167-1G>C)
c.414-1G>C
n.2706-1G>C
c.2533-1G>C (n.2533-1G>C)
c.1810-1G>C (n.1810-1G>C)
c.361-1G>C (n.361-1G>C)
2g.165344554G>TCA349013076SCN2Ac.2563-1G>T (n.2563-1G>T)
c.*882-1G>T (n.*882-1G>T)
c.*550-1G>T (n.*550-1G>T)
c.*3086-1G>T (n.*3086-1G>T)
c.*505-1G>T (n.*505-1G>T)
c.2167-1G>T (n.2167-1G>T)
c.414-1G>T
n.2706-1G>T
c.2533-1G>T (n.2533-1G>T)
c.1810-1G>T (n.1810-1G>T)
c.361-1G>T (n.361-1G>T)
2g.165344555C>ACA349013078SCN2Ac.2563C>A (p.Leu855Ile)
c.*882C>A (n.*882C>A)
c.*550C>A (n.*550C>A)
c.*3086C>A (n.*3086C>A)
c.*505C>A (n.*505C>A)
c.2167C>A (p.Leu723Ile)
c.1C>A (p.Leu1Ile)
c.414C>A
n.2706C>A
c.2533C>A (p.Leu845Ile)
c.1810C>A (p.Leu604Ile)
c.361C>A (p.Leu121Ile)
2g.165344555C>GCA349013079SCN2Ac.2563C>G (p.Leu855Val)
c.*882C>G (n.*882C>G)
c.*550C>G (n.*550C>G)
c.*3086C>G (n.*3086C>G)
c.*505C>G (n.*505C>G)
c.2167C>G (p.Leu723Val)
c.1C>G (p.Leu1Val)
c.414C>G
n.2706C>G
c.2533C>G (p.Leu845Val)
c.1810C>G (p.Leu604Val)
c.361C>G (p.Leu121Val)
2g.165344555C>TCA349013080SCN2Ac.2563C>T (p.Leu855Phe)
c.*882C>T (n.*882C>T)
c.*550C>T (n.*550C>T)
c.*3086C>T (n.*3086C>T)
c.*505C>T (n.*505C>T)
c.2167C>T (p.Leu723Phe)
c.1C>T (p.Leu1Phe)
c.414C>T
n.2706C>T
c.2533C>T (p.Leu845Phe)
c.1810C>T (p.Leu604Phe)
c.361C>T (p.Leu121Phe)
2g.165344556T>ACA349013081SCN2Ac.2564T>A (p.Leu855His)
c.*883T>A (n.*883T>A)
c.*551T>A (n.*551T>A)
c.*3087T>A (n.*3087T>A)
c.*506T>A (n.*506T>A)
c.2168T>A (p.Leu723His)
c.2T>A (p.Leu1His)
c.415T>A
n.2707T>A
c.2534T>A (p.Leu845His)
c.1811T>A (p.Leu604His)
c.362T>A (p.Leu121His)
2g.165344556T>CCA349013083SCN2Ac.2564T>C (p.Leu855Pro)
c.*883T>C (n.*883T>C)
c.*551T>C (n.*551T>C)
c.*3087T>C (n.*3087T>C)
c.*506T>C (n.*506T>C)
c.2168T>C (p.Leu723Pro)
c.2T>C (p.Leu1Pro)
c.415T>C
n.2707T>C
c.2534T>C (p.Leu845Pro)
c.1811T>C (p.Leu604Pro)
c.362T>C (p.Leu121Pro)
2g.165344556T>GCA349013084SCN2Ac.2564T>G (p.Leu855Arg)
c.*883T>G (n.*883T>G)
c.*551T>G (n.*551T>G)
c.*3087T>G (n.*3087T>G)
c.*506T>G (n.*506T>G)
c.2168T>G (p.Leu723Arg)
c.2T>G (p.Leu1Arg)
c.415T>G
n.2707T>G
c.2534T>G (p.Leu845Arg)
c.1811T>G (p.Leu604Arg)
c.362T>G (p.Leu121Arg)
2g.165344557C>ACA429885313SCN2Ac.2565C>A (p.Leu855=)
c.*884C>A (n.*884C>A)
c.*552C>A (n.*552C>A)
c.*3088C>A (n.*3088C>A)
c.*507C>A (n.*507C>A)
c.2169C>A (p.Leu723=)
c.3C>A (p.Leu1=)
c.416C>A
n.2708C>A
c.2535C>A (p.Leu845=)
c.1812C>A (p.Leu604=)
c.363C>A (p.Leu121=)
2g.165344557C>GCA429885312SCN2Ac.2565C>G (p.Leu855=)
c.*884C>G (n.*884C>G)
c.*552C>G (n.*552C>G)
c.*3088C>G (n.*3088C>G)
c.*507C>G (n.*507C>G)
c.2169C>G (p.Leu723=)
c.3C>G (p.Leu1=)
c.416C>G
n.2708C>G
c.2535C>G (p.Leu845=)
c.1812C>G (p.Leu604=)
c.363C>G (p.Leu121=)
2g.165344557C>TCA429885311SCN2Ac.2565C>T (p.Leu855=)
c.*884C>T (n.*884C>T)
c.*552C>T (n.*552C>T)
c.*3088C>T (n.*3088C>T)
c.*507C>T (n.*507C>T)
c.2169C>T (p.Leu723=)
c.3C>T (p.Leu1=)
c.416C>T
n.2708C>T
c.2535C>T (p.Leu845=)
c.1812C>T (p.Leu604=)
c.363C>T (p.Leu121=)
 COSMIC COSMIC
2g.165344558C>ACA429885314SCN2Ac.2566C>A (p.Arg856=)
c.*885C>A (n.*885C>A)
c.*553C>A (n.*553C>A)
c.*3089C>A (n.*3089C>A)
c.*508C>A (n.*508C>A)
c.2170C>A (p.Arg724=)
c.4C>A (p.Arg2=)
c.417C>A
n.2709C>A
c.2536C>A (p.Arg846=)
c.1813C>A (p.Arg605=)
c.364C>A (p.Arg122=)
2g.165344558C=CA1304545440SCN2Ac.2566C= (p.Arg856=)
c.*885C= (n.*885C=)
c.*553C= (n.*553C=)
c.*3089C= (n.*3089C=)
c.*508C= (n.*508C=)
c.2170C= (p.Arg724=)
c.4C= (p.Arg2=)
c.417C=
n.2709C=
c.2536C= (p.Arg846=)
c.1813C= (p.Arg605=)
c.364C= (p.Arg122=)
2g.165344558C>GCA349013088SCN2Ac.2566C>G (p.Arg856Gly)
c.*885C>G (n.*885C>G)
c.*553C>G (n.*553C>G)
c.*3089C>G (n.*3089C>G)
c.*508C>G (n.*508C>G)
c.2170C>G (p.Arg724Gly)
c.4C>G (p.Arg2Gly)
c.417C>G
n.2709C>G
c.2536C>G (p.Arg846Gly)
c.1813C>G (p.Arg605Gly)
c.364C>G (p.Arg122Gly)
2g.165344558C>TCA349013087SCN2Ac.2566C>T (p.Arg856Ter)
c.*885C>T (n.*885C>T)
c.*553C>T (n.*553C>T)
c.*3089C>T (n.*3089C>T)
c.*508C>T (n.*508C>T)
c.2170C>T (p.Arg724Ter)
c.4C>T (p.Arg2Ter)
c.417C>T
n.2709C>T
c.2536C>T (p.Arg846Ter)
c.1813C>T (p.Arg605Ter)
c.364C>T (p.Arg122Ter)
 ClinVar dbSNP
2g.165344559G>ACA207842SCN2Ac.2567G>A (p.Arg856Gln)
c.*886G>A (n.*886G>A)
c.*554G>A (n.*554G>A)
c.*3090G>A (n.*3090G>A)
c.*509G>A (n.*509G>A)
c.2171G>A (p.Arg724Gln)
c.5G>A (p.Arg2Gln)
c.418G>A
n.2710G>A
c.2537G>A (p.Arg846Gln)
c.1814G>A (p.Arg605Gln)
c.365G>A (p.Arg122Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.165344559G>CCA349013092SCN2Ac.2567G>C (p.Arg856Pro)
c.*886G>C (n.*886G>C)
c.*554G>C (n.*554G>C)
c.*3090G>C (n.*3090G>C)
c.*509G>C (n.*509G>C)
c.2171G>C (p.Arg724Pro)
c.5G>C (p.Arg2Pro)
c.418G>C
n.2710G>C
c.2537G>C (p.Arg846Pro)
c.1814G>C (p.Arg605Pro)
c.365G>C (p.Arg122Pro)
 dbSNP gnomAD v2
2g.165344559G=CA1304545441SCN2Ac.2567G= (p.Arg856=)
c.*886G= (n.*886G=)
c.*554G= (n.*554G=)
c.*3090G= (n.*3090G=)
c.*509G= (n.*509G=)
c.2171G= (p.Arg724=)
c.5G= (p.Arg2=)
c.418G=
n.2710G=
c.2537G= (p.Arg846=)
c.1814G= (p.Arg605=)
c.365G= (p.Arg122=)
2g.165344559G>TCA349013094SCN2Ac.2567G>T (p.Arg856Leu)
c.*886G>T (n.*886G>T)
c.*554G>T (n.*554G>T)
c.*3090G>T (n.*3090G>T)
c.*509G>T (n.*509G>T)
c.2171G>T (p.Arg724Leu)
c.5G>T (p.Arg2Leu)
c.418G>T
n.2710G>T
c.2537G>T (p.Arg846Leu)
c.1814G>T (p.Arg605Leu)
c.365G>T (p.Arg122Leu)
2g.165344560A=CA1304545442SCN2Ac.2568A= (p.Arg856=)
c.*887A= (n.*887A=)
c.*555A= (n.*555A=)
c.*3091A= (n.*3091A=)
c.*510A= (n.*510A=)
c.2172A= (p.Arg724=)
c.6A= (p.Arg2=)
c.419A=
n.2711A=
c.2538A= (p.Arg846=)
c.1815A= (p.Arg605=)
c.366A= (p.Arg122=)
2g.165344560A>CCA429885315SCN2Ac.2568A>C (p.Arg856=)
c.*887A>C (n.*887A>C)
c.*555A>C (n.*555A>C)
c.*3091A>C (n.*3091A>C)
c.*510A>C (n.*510A>C)
c.2172A>C (p.Arg724=)
c.6A>C (p.Arg2=)
c.419A>C
n.2711A>C
c.2538A>C (p.Arg846=)
c.1815A>C (p.Arg605=)
c.366A>C (p.Arg122=)
 dbSNP gnomAD v4
2g.165344560A>GCA429885316SCN2Ac.2568A>G (p.Arg856=)
c.*887A>G (n.*887A>G)
c.*555A>G (n.*555A>G)
c.*3091A>G (n.*3091A>G)
c.*510A>G (n.*510A>G)
c.2172A>G (p.Arg724=)
c.6A>G (p.Arg2=)
c.419A>G
n.2711A>G
c.2538A>G (p.Arg846=)
c.1815A>G (p.Arg605=)
c.366A>G (p.Arg122=)
 ClinVar
2g.165344560A>TCA429885317SCN2Ac.2568A>T (p.Arg856=)
c.*887A>T (n.*887A>T)
c.*555A>T (n.*555A>T)
c.*3091A>T (n.*3091A>T)
c.*510A>T (n.*510A>T)
c.2172A>T (p.Arg724=)
c.6A>T (p.Arg2=)
c.419A>T
n.2711A>T
c.2538A>T (p.Arg846=)
c.1815A>T (p.Arg605=)
c.366A>T (p.Arg122=)
2g.165344561G>ACA349013096SCN2Ac.2569G>A (p.Val857Ile)
c.*888G>A (n.*888G>A)
c.*556G>A (n.*556G>A)
c.*3092G>A (n.*3092G>A)
c.*511G>A (n.*511G>A)
c.2173G>A (p.Val725Ile)
c.7G>A (p.Val3Ile)
c.420G>A
n.2712G>A
c.2539G>A (p.Val847Ile)
c.1816G>A (p.Val606Ile)
c.367G>A (p.Val123Ile)
2g.165344561G>CCA349013098SCN2Ac.2569G>C (p.Val857Leu)
c.*888G>C (n.*888G>C)
c.*556G>C (n.*556G>C)
c.*3092G>C (n.*3092G>C)
c.*511G>C (n.*511G>C)
c.2173G>C (p.Val725Leu)
c.7G>C (p.Val3Leu)
c.420G>C
n.2712G>C
c.2539G>C (p.Val847Leu)
c.1816G>C (p.Val606Leu)
c.367G>C (p.Val123Leu)
2g.165344561G>TCA349013100SCN2Ac.2569G>T (p.Val857Phe)
c.*888G>T (n.*888G>T)
c.*556G>T (n.*556G>T)
c.*3092G>T (n.*3092G>T)
c.*511G>T (n.*511G>T)
c.2173G>T (p.Val725Phe)
c.7G>T (p.Val3Phe)
c.420G>T
n.2712G>T
c.2539G>T (p.Val847Phe)
c.1816G>T (p.Val606Phe)
c.367G>T (p.Val123Phe)
2g.165344562T>ACA349013106SCN2Ac.2570T>A (p.Val857Asp)
c.*889T>A (n.*889T>A)
c.*557T>A (n.*557T>A)
c.*3093T>A (n.*3093T>A)
c.*512T>A (n.*512T>A)
c.2174T>A (p.Val725Asp)
c.8T>A (p.Val3Asp)
c.421T>A
n.2713T>A
c.2540T>A (p.Val847Asp)
c.1817T>A (p.Val606Asp)
c.368T>A (p.Val123Asp)
2g.165344562T>CCA349013102SCN2Ac.2570T>C (p.Val857Ala)
c.*889T>C (n.*889T>C)
c.*557T>C (n.*557T>C)
c.*3093T>C (n.*3093T>C)
c.*512T>C (n.*512T>C)
c.2174T>C (p.Val725Ala)
c.8T>C (p.Val3Ala)
c.421T>C
n.2713T>C
c.2540T>C (p.Val847Ala)
c.1817T>C (p.Val606Ala)
c.368T>C (p.Val123Ala)
2g.165344562T>GCA349013104SCN2Ac.2570T>G (p.Val857Gly)
c.*889T>G (n.*889T>G)
c.*557T>G (n.*557T>G)
c.*3093T>G (n.*3093T>G)
c.*512T>G (n.*512T>G)
c.2174T>G (p.Val725Gly)
c.8T>G (p.Val3Gly)
c.421T>G
n.2713T>G
c.2540T>G (p.Val847Gly)
c.1817T>G (p.Val606Gly)
c.368T>G (p.Val123Gly)
2g.165344563T>ACA429885320SCN2Ac.2571T>A (p.Val857=)
c.*890T>A (n.*890T>A)
c.*558T>A (n.*558T>A)
c.*3094T>A (n.*3094T>A)
c.*513T>A (n.*513T>A)
c.2175T>A (p.Val725=)
c.9T>A (p.Val3=)
c.422T>A
n.2714T>A
c.2541T>A (p.Val847=)
c.1818T>A (p.Val606=)
c.369T>A (p.Val123=)
2g.165344563T>CCA429885322SCN2Ac.2571T>C (p.Val857=)
c.*890T>C (n.*890T>C)
c.*558T>C (n.*558T>C)
c.*3094T>C (n.*3094T>C)
c.*513T>C (n.*513T>C)
c.2175T>C (p.Val725=)
c.9T>C (p.Val3=)
c.422T>C
n.2714T>C
c.2541T>C (p.Val847=)
c.1818T>C (p.Val606=)
c.369T>C (p.Val123=)
2g.165344563T>GCA429885323SCN2Ac.2571T>G (p.Val857=)
c.*890T>G (n.*890T>G)
c.*558T>G (n.*558T>G)
c.*3094T>G (n.*3094T>G)
c.*513T>G (n.*513T>G)
c.2175T>G (p.Val725=)
c.9T>G (p.Val3=)
c.422T>G
n.2714T>G
c.2541T>G (p.Val847=)
c.1818T>G (p.Val606=)
c.369T>G (p.Val123=)
 gnomAD v4
2g.165344564T>ACA349013107SCN2Ac.2572T>A (p.Phe858Ile)
c.*891T>A (n.*891T>A)
c.*559T>A (n.*559T>A)
c.*3095T>A (n.*3095T>A)
c.*514T>A (n.*514T>A)
c.2176T>A (p.Phe726Ile)
c.10T>A (p.Phe4Ile)
c.423T>A
n.2715T>A
c.2542T>A (p.Phe848Ile)
c.1819T>A (p.Phe607Ile)
c.370T>A (p.Phe124Ile)
2g.165344564T>CCA349013109SCN2Ac.2572T>C (p.Phe858Leu)
c.*891T>C (n.*891T>C)
c.*559T>C (n.*559T>C)
c.*3095T>C (n.*3095T>C)
c.*514T>C (n.*514T>C)
c.2176T>C (p.Phe726Leu)
c.10T>C (p.Phe4Leu)
c.423T>C
n.2715T>C
c.2542T>C (p.Phe848Leu)
c.1819T>C (p.Phe607Leu)
c.370T>C (p.Phe124Leu)
2g.165344564T>GCA349013111SCN2Ac.2572T>G (p.Phe858Val)
c.*891T>G (n.*891T>G)
c.*559T>G (n.*559T>G)
c.*3095T>G (n.*3095T>G)
c.*514T>G (n.*514T>G)
c.2176T>G (p.Phe726Val)
c.10T>G (p.Phe4Val)
c.423T>G
n.2715T>G
c.2542T>G (p.Phe848Val)
c.1819T>G (p.Phe607Val)
c.370T>G (p.Phe124Val)
2g.165344565T>ACA349013114SCN2Ac.2573T>A (p.Phe858Tyr)
c.*892T>A (n.*892T>A)
c.*560T>A (n.*560T>A)
c.*3096T>A (n.*3096T>A)
c.*515T>A (n.*515T>A)
c.2177T>A (p.Phe726Tyr)
c.11T>A (p.Phe4Tyr)
c.424T>A
n.2716T>A
c.2543T>A (p.Phe848Tyr)
c.1820T>A (p.Phe607Tyr)
c.371T>A (p.Phe124Tyr)
2g.165344565T>CCA349013116SCN2Ac.2573T>C (p.Phe858Ser)
c.*892T>C (n.*892T>C)
c.*560T>C (n.*560T>C)
c.*3096T>C (n.*3096T>C)
c.*515T>C (n.*515T>C)
c.2177T>C (p.Phe726Ser)
c.11T>C (p.Phe4Ser)
c.424T>C
n.2716T>C
c.2543T>C (p.Phe848Ser)
c.1820T>C (p.Phe607Ser)
c.371T>C (p.Phe124Ser)
2g.165344565T>GCA349013118SCN2Ac.2573T>G (p.Phe858Cys)
c.*892T>G (n.*892T>G)
c.*560T>G (n.*560T>G)
c.*3096T>G (n.*3096T>G)
c.*515T>G (n.*515T>G)
c.2177T>G (p.Phe726Cys)
c.11T>G (p.Phe4Cys)
c.424T>G
n.2716T>G
c.2543T>G (p.Phe848Cys)
c.1820T>G (p.Phe607Cys)
c.371T>G (p.Phe124Cys)
2g.165344566C>ACA349013120SCN2Ac.2574C>A (p.Phe858Leu)
c.*893C>A (n.*893C>A)
c.*561C>A (n.*561C>A)
c.*3097C>A (n.*3097C>A)
c.*516C>A (n.*516C>A)
c.2178C>A (p.Phe726Leu)
c.12C>A (p.Phe4Leu)
c.425C>A
n.2717C>A
c.2544C>A (p.Phe848Leu)
c.1821C>A (p.Phe607Leu)
c.372C>A (p.Phe124Leu)
2g.165344566C=CA1304545443SCN2Ac.2574C= (p.Phe858=)
c.*893C= (n.*893C=)
c.*561C= (n.*561C=)
c.*3097C= (n.*3097C=)
c.*516C= (n.*516C=)
c.2178C= (p.Phe726=)
c.12C= (p.Phe4=)
c.425C=
n.2717C=
c.2544C= (p.Phe848=)
c.1821C= (p.Phe607=)
c.372C= (p.Phe124=)
2g.165344566C>GCA349013122SCN2Ac.2574C>G (p.Phe858Leu)
c.*893C>G (n.*893C>G)
c.*561C>G (n.*561C>G)
c.*3097C>G (n.*3097C>G)
c.*516C>G (n.*516C>G)
c.2178C>G (p.Phe726Leu)
c.12C>G (p.Phe4Leu)
c.425C>G
n.2717C>G
c.2544C>G (p.Phe848Leu)
c.1821C>G (p.Phe607Leu)
c.372C>G (p.Phe124Leu)
2g.165344566C>TCA1940009SCN2Ac.2574C>T (p.Phe858=)
c.*893C>T (n.*893C>T)
c.*561C>T (n.*561C>T)
c.*3097C>T (n.*3097C>T)
c.*516C>T (n.*516C>T)
c.2178C>T (p.Phe726=)
c.12C>T (p.Phe4=)
c.425C>T
n.2717C>T
c.2544C>T (p.Phe848=)
c.1821C>T (p.Phe607=)
c.372C>T (p.Phe124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.165344567A=CA1304545444SCN2Ac.2575A= (p.Lys859=)
c.*894A= (n.*894A=)
c.*562A= (n.*562A=)
c.*3098A= (n.*3098A=)
c.*517A= (n.*517A=)
c.2179A= (p.Lys727=)
c.13A= (p.Lys5=)
c.426A=
n.2718A=
c.2545A= (p.Lys849=)
c.1822A= (p.Lys608=)
c.373A= (p.Lys125=)
2g.165344567A>CCA349013124SCN2Ac.2575A>C (p.Lys859Gln)
c.*894A>C (n.*894A>C)
c.*562A>C (n.*562A>C)
c.*3098A>C (n.*3098A>C)
c.*517A>C (n.*517A>C)
c.2179A>C (p.Lys727Gln)
c.13A>C (p.Lys5Gln)
c.426A>C
n.2718A>C
c.2545A>C (p.Lys849Gln)
c.1822A>C (p.Lys608Gln)
c.373A>C (p.Lys125Gln)
 dbSNP
2g.165344567A>GCA349013126SCN2Ac.2575A>G (p.Lys859Glu)
c.*894A>G (n.*894A>G)
c.*562A>G (n.*562A>G)
c.*3098A>G (n.*3098A>G)
c.*517A>G (n.*517A>G)
c.2179A>G (p.Lys727Glu)
c.13A>G (p.Lys5Glu)
c.426A>G
n.2718A>G
c.2545A>G (p.Lys849Glu)
c.1822A>G (p.Lys608Glu)
c.373A>G (p.Lys125Glu)
2g.165344567A>TCA349013128SCN2Ac.2575A>T (p.Lys859Ter)
c.*894A>T (n.*894A>T)
c.*562A>T (n.*562A>T)
c.*3098A>T (n.*3098A>T)
c.*517A>T (n.*517A>T)
c.2179A>T (p.Lys727Ter)
c.13A>T (p.Lys5Ter)
c.426A>T
n.2718A>T
c.2545A>T (p.Lys849Ter)
c.1822A>T (p.Lys608Ter)
c.373A>T (p.Lys125Ter)
 dbSNP
2g.165344568A>CCA349013130SCN2Ac.2576A>C (p.Lys859Thr)
c.*895A>C (n.*895A>C)
c.*563A>C (n.*563A>C)
c.*3099A>C (n.*3099A>C)
c.*518A>C (n.*518A>C)
c.2180A>C (p.Lys727Thr)
c.14A>C (p.Lys5Thr)
c.427A>C
n.2719A>C
c.2546A>C (p.Lys849Thr)
c.1823A>C (p.Lys608Thr)
c.374A>C (p.Lys125Thr)
2g.165344568A>GCA349013134SCN2Ac.2576A>G (p.Lys859Arg)
c.*895A>G (n.*895A>G)
c.*563A>G (n.*563A>G)
c.*3099A>G (n.*3099A>G)
c.*518A>G (n.*518A>G)
c.2180A>G (p.Lys727Arg)
c.14A>G (p.Lys5Arg)
c.427A>G
n.2719A>G
c.2546A>G (p.Lys849Arg)
c.1823A>G (p.Lys608Arg)
c.374A>G (p.Lys125Arg)
2g.165344568A>TCA349013132SCN2Ac.2576A>T (p.Lys859Met)
c.*895A>T (n.*895A>T)
c.*563A>T (n.*563A>T)
c.*3099A>T (n.*3099A>T)
c.*518A>T (n.*518A>T)
c.2180A>T (p.Lys727Met)
c.14A>T (p.Lys5Met)
c.427A>T
n.2719A>T
c.2546A>T (p.Lys849Met)
c.1823A>T (p.Lys608Met)
c.374A>T (p.Lys125Met)
2g.165344569G>ACA429885328SCN2Ac.2577G>A (p.Lys859=)
c.*896G>A (n.*896G>A)
c.*564G>A (n.*564G>A)
c.*3100G>A (n.*3100G>A)
c.*519G>A (n.*519G>A)
c.2181G>A (p.Lys727=)
c.15G>A (p.Lys5=)
c.428G>A
n.2720G>A
c.2547G>A (p.Lys849=)
c.1824G>A (p.Lys608=)
c.375G>A (p.Lys125=)
 COSMIC COSMIC
2g.165344569G>CCA349013136SCN2Ac.2577G>C (p.Lys859Asn)
c.*896G>C (n.*896G>C)
c.*564G>C (n.*564G>C)
c.*3100G>C (n.*3100G>C)
c.*519G>C (n.*519G>C)
c.2181G>C (p.Lys727Asn)
c.15G>C (p.Lys5Asn)
c.428G>C
n.2720G>C
c.2547G>C (p.Lys849Asn)
c.1824G>C (p.Lys608Asn)
c.375G>C (p.Lys125Asn)
2g.165344569G>TCA349013138SCN2Ac.2577G>T (p.Lys859Asn)
c.*896G>T (n.*896G>T)
c.*564G>T (n.*564G>T)
c.*3100G>T (n.*3100G>T)
c.*519G>T (n.*519G>T)
c.2181G>T (p.Lys727Asn)
c.15G>T (p.Lys5Asn)
c.428G>T
n.2720G>T
c.2547G>T (p.Lys849Asn)
c.1824G>T (p.Lys608Asn)
c.375G>T (p.Lys125Asn)
2g.165344570T>ACA349013140SCN2Ac.2578T>A (p.Leu860Met)
c.*897T>A (n.*897T>A)
c.*565T>A (n.*565T>A)
c.*3101T>A (n.*3101T>A)
c.*520T>A (n.*520T>A)
c.2182T>A (p.Leu728Met)
c.16T>A (p.Leu6Met)
c.429T>A
n.2721T>A
c.2548T>A (p.Leu850Met)
c.1825T>A (p.Leu609Met)
c.376T>A (p.Leu126Met)
2g.165344570T>CCA429885331SCN2Ac.2578T>C (p.Leu860=)
c.*897T>C (n.*897T>C)
c.*565T>C (n.*565T>C)
c.*3101T>C (n.*3101T>C)
c.*520T>C (n.*520T>C)
c.2182T>C (p.Leu728=)
c.16T>C (p.Leu6=)
c.429T>C
n.2721T>C
c.2548T>C (p.Leu850=)
c.1825T>C (p.Leu609=)
c.376T>C (p.Leu126=)
2g.165344570T>GCA349013142SCN2Ac.2578T>G (p.Leu860Val)
c.*897T>G (n.*897T>G)
c.*565T>G (n.*565T>G)
c.*3101T>G (n.*3101T>G)
c.*520T>G (n.*520T>G)
c.2182T>G (p.Leu728Val)
c.16T>G (p.Leu6Val)
c.429T>G
n.2721T>G
c.2548T>G (p.Leu850Val)
c.1825T>G (p.Leu609Val)
c.376T>G (p.Leu126Val)
2g.165344571T>ACA349013144SCN2Ac.2579T>A (p.Leu860Ter)
c.*898T>A (n.*898T>A)
c.*566T>A (n.*566T>A)
c.*3102T>A (n.*3102T>A)
c.*521T>A (n.*521T>A)
c.2183T>A (p.Leu728Ter)
c.17T>A (p.Leu6Ter)
c.430T>A
n.2722T>A
c.2549T>A (p.Leu850Ter)
c.1826T>A (p.Leu609Ter)
c.377T>A (p.Leu126Ter)
 dbSNP
2g.165344571T>CCA349013145SCN2Ac.2579T>C (p.Leu860Ser)
c.*898T>C (n.*898T>C)
c.*566T>C (n.*566T>C)
c.*3102T>C (n.*3102T>C)
c.*521T>C (n.*521T>C)
c.2183T>C (p.Leu728Ser)
c.17T>C (p.Leu6Ser)
c.430T>C
n.2722T>C
c.2549T>C (p.Leu850Ser)
c.1826T>C (p.Leu609Ser)
c.377T>C (p.Leu126Ser)
2g.165344571T>GCA349013147SCN2Ac.2579T>G (p.Leu860Trp)
c.*898T>G (n.*898T>G)
c.*566T>G (n.*566T>G)
c.*3102T>G (n.*3102T>G)
c.*521T>G (n.*521T>G)
c.2183T>G (p.Leu728Trp)
c.17T>G (p.Leu6Trp)
c.430T>G
n.2722T>G
c.2549T>G (p.Leu850Trp)
c.1826T>G (p.Leu609Trp)
c.377T>G (p.Leu126Trp)
2g.165344571T=CA1304545446SCN2Ac.2579T= (p.Leu860=)
c.*898T= (n.*898T=)
c.*566T= (n.*566T=)
c.*3102T= (n.*3102T=)
c.*521T= (n.*521T=)
c.2183T= (p.Leu728=)
c.17T= (p.Leu6=)
c.430T=
n.2722T=
c.2549T= (p.Leu850=)
c.1826T= (p.Leu609=)
c.377T= (p.Leu126=)
2g.165344571_165344572delinsTGCA1304545445SCN2Ac.2579_2580delinsTG (p.Leu860=)
c.*898_*899delinsTG (n.*898_*899delinsTG)
c.*566_*567delinsTG (n.*566_*567delinsTG)
c.*3102_*3103delinsTG (n.*3102_*3103delinsTG)
c.*521_*522delinsTG (n.*521_*522delinsTG)
c.2183_2184delinsTG (p.Leu728=)
c.17_18delinsTG (p.Leu6=)
c.430_431delinsTG
n.2722_2723delinsTG
c.2549_2550delinsTG (p.Leu850=)
c.1826_1827delinsTG (p.Leu609=)
c.377_378delinsTG (p.Leu126=)
2g.165344572G>ACA429885334SCN2Ac.2580G>A (p.Leu860=)
c.*899G>A (n.*899G>A)
c.*567G>A (n.*567G>A)
c.*3103G>A (n.*3103G>A)
c.*522G>A (n.*522G>A)
c.2184G>A (p.Leu728=)
c.18G>A (p.Leu6=)
c.431G>A
n.2723G>A
c.2550G>A (p.Leu850=)
c.1827G>A (p.Leu609=)
c.378G>A (p.Leu126=)
2g.165344572G>CCA349013149SCN2Ac.2580G>C (p.Leu860Phe)
c.*899G>C (n.*899G>C)
c.*567G>C (n.*567G>C)
c.*3103G>C (n.*3103G>C)
c.*522G>C (n.*522G>C)
c.2184G>C (p.Leu728Phe)
c.18G>C (p.Leu6Phe)
c.431G>C
n.2723G>C
c.2550G>C (p.Leu850Phe)
c.1827G>C (p.Leu609Phe)
c.378G>C (p.Leu126Phe)
2g.165344572G>TCA349013151SCN2Ac.2580G>T (p.Leu860Phe)
c.*899G>T (n.*899G>T)
c.*567G>T (n.*567G>T)
c.*3103G>T (n.*3103G>T)
c.*522G>T (n.*522G>T)
c.2184G>T (p.Leu728Phe)
c.18G>T (p.Leu6Phe)
c.431G>T
n.2723G>T
c.2550G>T (p.Leu850Phe)
c.1827G>T (p.Leu609Phe)
c.378G>T (p.Leu126Phe)
2g.165344573delCA915942906SCN2Ac.2581del (p.Ala861GlnfsTer7)
c.*900del (n.*900del)
c.*568del (n.*568del)
c.*3104del (n.*3104del)
c.*523del (n.*523del)
c.2185del (p.Ala729GlnfsTer7)
c.19del (p.Ala7GlnfsTer7)
c.432del
n.2724del
c.2551del (p.Ala851GlnfsTer7)
c.1828del (p.Ala610GlnfsTer7)
c.379del (p.Ala127GlnfsTer7)
 ClinVar dbSNP
2g.165344573G>ACA349013153SCN2Ac.2581G>A (p.Ala861Thr)
c.*900G>A (n.*900G>A)
c.*568G>A (n.*568G>A)
c.*3104G>A (n.*3104G>A)
c.*523G>A (n.*523G>A)
c.2185G>A (p.Ala729Thr)
c.19G>A (p.Ala7Thr)
c.432G>A
n.2724G>A
c.2551G>A (p.Ala851Thr)
c.1828G>A (p.Ala610Thr)
c.379G>A (p.Ala127Thr)
2g.165344573G>CCA349013155SCN2Ac.2581G>C (p.Ala861Pro)
c.*900G>C (n.*900G>C)
c.*568G>C (n.*568G>C)
c.*3104G>C (n.*3104G>C)
c.*523G>C (n.*523G>C)
c.2185G>C (p.Ala729Pro)
c.19G>C (p.Ala7Pro)
c.432G>C
n.2724G>C
c.2551G>C (p.Ala851Pro)
c.1828G>C (p.Ala610Pro)
c.379G>C (p.Ala127Pro)
2g.165344573G>TCA349013157SCN2Ac.2581G>T (p.Ala861Ser)
c.*900G>T (n.*900G>T)
c.*568G>T (n.*568G>T)
c.*3104G>T (n.*3104G>T)
c.*523G>T (n.*523G>T)
c.2185G>T (p.Ala729Ser)
c.19G>T (p.Ala7Ser)
c.432G>T
n.2724G>T
c.2551G>T (p.Ala851Ser)
c.1828G>T (p.Ala610Ser)
c.379G>T (p.Ala127Ser)
2g.165344574C>ACA349013163SCN2Ac.2582C>A (p.Ala861Glu)
c.*901C>A (n.*901C>A)
c.*569C>A (n.*569C>A)
c.*3105C>A (n.*3105C>A)
c.*524C>A (n.*524C>A)
c.2186C>A (p.Ala729Glu)
c.20C>A (p.Ala7Glu)
c.433C>A
n.2725C>A
c.2552C>A (p.Ala851Glu)
c.1829C>A (p.Ala610Glu)
c.380C>A (p.Ala127Glu)
2g.165344574C>GCA349013160SCN2Ac.2582C>G (p.Ala861Gly)
c.*901C>G (n.*901C>G)
c.*569C>G (n.*569C>G)
c.*3105C>G (n.*3105C>G)
c.*524C>G (n.*524C>G)
c.2186C>G (p.Ala729Gly)
c.20C>G (p.Ala7Gly)
c.433C>G
n.2725C>G
c.2552C>G (p.Ala851Gly)
c.1829C>G (p.Ala610Gly)
c.380C>G (p.Ala127Gly)
2g.165344574C>TCA349013161SCN2Ac.2582C>T (p.Ala861Val)
c.*901C>T (n.*901C>T)
c.*569C>T (n.*569C>T)
c.*3105C>T (n.*3105C>T)
c.*524C>T (n.*524C>T)
c.2186C>T (p.Ala729Val)
c.20C>T (p.Ala7Val)
c.433C>T
n.2725C>T
c.2552C>T (p.Ala851Val)
c.1829C>T (p.Ala610Val)
c.380C>T (p.Ala127Val)
2g.165344575A>CCA429885340SCN2Ac.2583A>C (p.Ala861=)
c.*902A>C (n.*902A>C)
c.*570A>C (n.*570A>C)
c.*3106A>C (n.*3106A>C)
c.*525A>C (n.*525A>C)
c.2187A>C (p.Ala729=)
c.21A>C (p.Ala7=)
c.434A>C
n.2726A>C
c.2553A>C (p.Ala851=)
c.1830A>C (p.Ala610=)
c.381A>C (p.Ala127=)
2g.165344575A>GCA429885338SCN2Ac.2583A>G (p.Ala861=)
c.*902A>G (n.*902A>G)
c.*570A>G (n.*570A>G)
c.*3106A>G (n.*3106A>G)
c.*525A>G (n.*525A>G)
c.2187A>G (p.Ala729=)
c.21A>G (p.Ala7=)
c.434A>G
n.2726A>G
c.2553A>G (p.Ala851=)
c.1830A>G (p.Ala610=)
c.381A>G (p.Ala127=)
2g.165344575A>TCA429885339SCN2Ac.2583A>T (p.Ala861=)
c.*902A>T (n.*902A>T)
c.*570A>T (n.*570A>T)
c.*3106A>T (n.*3106A>T)
c.*525A>T (n.*525A>T)
c.2187A>T (p.Ala729=)
c.21A>T (p.Ala7=)
c.434A>T
n.2726A>T
c.2553A>T (p.Ala851=)
c.1830A>T (p.Ala610=)
c.381A>T (p.Ala127=)
2g.165344576A=CA1304545447SCN2Ac.2584A= (p.Lys862=)
c.*903A= (n.*903A=)
c.*571A= (n.*571A=)
c.*3107A= (n.*3107A=)
c.*526A= (n.*526A=)
c.2188A= (p.Lys730=)
c.22A= (p.Lys8=)
c.435A=
n.2727A=
c.2554A= (p.Lys852=)
c.1831A= (p.Lys611=)
c.382A= (p.Lys128=)
2g.165344576A>CCA349013166SCN2Ac.2584A>C (p.Lys862Gln)
c.*903A>C (n.*903A>C)
c.*571A>C (n.*571A>C)
c.*3107A>C (n.*3107A>C)
c.*526A>C (n.*526A>C)
c.2188A>C (p.Lys730Gln)
c.22A>C (p.Lys8Gln)
c.435A>C
n.2727A>C
c.2554A>C (p.Lys852Gln)
c.1831A>C (p.Lys611Gln)
c.382A>C (p.Lys128Gln)
2g.165344576A>GCA349013167SCN2Ac.2584A>G (p.Lys862Glu)
c.*903A>G (n.*903A>G)
c.*571A>G (n.*571A>G)
c.*3107A>G (n.*3107A>G)
c.*526A>G (n.*526A>G)
c.2188A>G (p.Lys730Glu)
c.22A>G (p.Lys8Glu)
c.435A>G
n.2727A>G
c.2554A>G (p.Lys852Glu)
c.1831A>G (p.Lys611Glu)
c.382A>G (p.Lys128Glu)
2g.165344576A>TCA349013169SCN2Ac.2584A>T (p.Lys862Ter)
c.*903A>T (n.*903A>T)
c.*571A>T (n.*571A>T)
c.*3107A>T (n.*3107A>T)
c.*526A>T (n.*526A>T)
c.2188A>T (p.Lys730Ter)
c.22A>T (p.Lys8Ter)
c.435A>T
n.2727A>T
c.2554A>T (p.Lys852Ter)
c.1831A>T (p.Lys611Ter)
c.382A>T (p.Lys128Ter)
 dbSNP
2g.165344577A>CCA349013172SCN2Ac.2585A>C (p.Lys862Thr)
c.*904A>C (n.*904A>C)
c.*572A>C (n.*572A>C)
c.*3108A>C (n.*3108A>C)
c.*527A>C (n.*527A>C)
c.2189A>C (p.Lys730Thr)
c.23A>C (p.Lys8Thr)
c.436A>C
n.2728A>C
c.2555A>C (p.Lys852Thr)
c.1832A>C (p.Lys611Thr)
c.383A>C (p.Lys128Thr)
2g.165344577A>GCA349013174SCN2Ac.2585A>G (p.Lys862Arg)
c.*904A>G (n.*904A>G)
c.*572A>G (n.*572A>G)
c.*3108A>G (n.*3108A>G)
c.*527A>G (n.*527A>G)
c.2189A>G (p.Lys730Arg)
c.23A>G (p.Lys8Arg)
c.436A>G
n.2728A>G
c.2555A>G (p.Lys852Arg)
c.1832A>G (p.Lys611Arg)
c.383A>G (p.Lys128Arg)
2g.165344577A>TCA349013176SCN2Ac.2585A>T (p.Lys862Ile)
c.*904A>T (n.*904A>T)
c.*572A>T (n.*572A>T)
c.*3108A>T (n.*3108A>T)
c.*527A>T (n.*527A>T)
c.2189A>T (p.Lys730Ile)
c.23A>T (p.Lys8Ile)
c.436A>T
n.2728A>T
c.2555A>T (p.Lys852Ile)
c.1832A>T (p.Lys611Ile)
c.383A>T (p.Lys128Ile)
2g.165344578A>CCA349013178SCN2Ac.2586A>C (p.Lys862Asn)
c.*905A>C (n.*905A>C)
c.*573A>C (n.*573A>C)
c.*3109A>C (n.*3109A>C)
c.*528A>C (n.*528A>C)
c.2190A>C (p.Lys730Asn)
c.24A>C (p.Lys8Asn)
c.437A>C
n.2729A>C
c.2556A>C (p.Lys852Asn)
c.1833A>C (p.Lys611Asn)
c.384A>C (p.Lys128Asn)
2g.165344578A>GCA429885345SCN2Ac.2586A>G (p.Lys862=)
c.*905A>G (n.*905A>G)
c.*573A>G (n.*573A>G)
c.*3109A>G (n.*3109A>G)
c.*528A>G (n.*528A>G)
c.2190A>G (p.Lys730=)
c.24A>G (p.Lys8=)
c.437A>G
n.2729A>G
c.2556A>G (p.Lys852=)
c.1833A>G (p.Lys611=)
c.384A>G (p.Lys128=)
2g.165344578A>TCA349013180SCN2Ac.2586A>T (p.Lys862Asn)
c.*905A>T (n.*905A>T)
c.*573A>T (n.*573A>T)
c.*3109A>T (n.*3109A>T)
c.*528A>T (n.*528A>T)
c.2190A>T (p.Lys730Asn)
c.24A>T (p.Lys8Asn)
c.437A>T
n.2729A>T
c.2556A>T (p.Lys852Asn)
c.1833A>T (p.Lys611Asn)
c.384A>T (p.Lys128Asn)
2g.165344579T>ACA349013182SCN2Ac.2587T>A (p.Ser863Thr)
c.*906T>A (n.*906T>A)
c.*574T>A (n.*574T>A)
c.*3110T>A (n.*3110T>A)
c.*529T>A (n.*529T>A)
c.2191T>A (p.Ser731Thr)
c.25T>A (p.Ser9Thr)
c.438T>A
n.2730T>A
c.2557T>A (p.Ser853Thr)
c.1834T>A (p.Ser612Thr)
c.385T>A (p.Ser129Thr)
2g.165344579T>CCA349013184SCN2Ac.2587T>C (p.Ser863Pro)
c.*906T>C (n.*906T>C)
c.*574T>C (n.*574T>C)
c.*3110T>C (n.*3110T>C)
c.*529T>C (n.*529T>C)
c.2191T>C (p.Ser731Pro)
c.25T>C (p.Ser9Pro)
c.438T>C
n.2730T>C
c.2557T>C (p.Ser853Pro)
c.1834T>C (p.Ser612Pro)
c.385T>C (p.Ser129Pro)
2g.165344579T>GCA349013187SCN2Ac.2587T>G (p.Ser863Ala)
c.*906T>G (n.*906T>G)
c.*574T>G (n.*574T>G)
c.*3110T>G (n.*3110T>G)
c.*529T>G (n.*529T>G)
c.2191T>G (p.Ser731Ala)
c.25T>G (p.Ser9Ala)
c.438T>G
n.2730T>G
c.2557T>G (p.Ser853Ala)
c.1834T>G (p.Ser612Ala)
c.385T>G (p.Ser129Ala)
2g.165344580C>ACA349013193SCN2Ac.2588C>A (p.Ser863Tyr)
c.*907C>A (n.*907C>A)
c.*575C>A (n.*575C>A)
c.*3111C>A (n.*3111C>A)
c.*530C>A (n.*530C>A)
c.2192C>A (p.Ser731Tyr)
c.26C>A (p.Ser9Tyr)
c.439C>A
n.2731C>A
c.2558C>A (p.Ser853Tyr)
c.1835C>A (p.Ser612Tyr)
c.386C>A (p.Ser129Tyr)
 ClinVar dbSNP
2g.165344580C=CA1304545448SCN2Ac.2588C= (p.Ser863=)
c.*907C= (n.*907C=)
c.*575C= (n.*575C=)
c.*3111C= (n.*3111C=)
c.*530C= (n.*530C=)
c.2192C= (p.Ser731=)
c.26C= (p.Ser9=)
c.439C=
n.2731C=
c.2558C= (p.Ser853=)
c.1835C= (p.Ser612=)
c.386C= (p.Ser129=)
2g.165344580C>GCA349013191SCN2Ac.2588C>G (p.Ser863Cys)
c.*907C>G (n.*907C>G)
c.*575C>G (n.*575C>G)
c.*3111C>G (n.*3111C>G)
c.*530C>G (n.*530C>G)
c.2192C>G (p.Ser731Cys)
c.26C>G (p.Ser9Cys)
c.439C>G
n.2731C>G
c.2558C>G (p.Ser853Cys)
c.1835C>G (p.Ser612Cys)
c.386C>G (p.Ser129Cys)
2g.165344580C>TCA349013189SCN2Ac.2588C>T (p.Ser863Phe)
c.*907C>T (n.*907C>T)
c.*575C>T (n.*575C>T)
c.*3111C>T (n.*3111C>T)
c.*530C>T (n.*530C>T)
c.2192C>T (p.Ser731Phe)
c.26C>T (p.Ser9Phe)
c.439C>T
n.2731C>T
c.2558C>T (p.Ser853Phe)
c.1835C>T (p.Ser612Phe)
c.386C>T (p.Ser129Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.165344581T>ACA429885346SCN2Ac.2589T>A (p.Ser863=)
c.*908T>A (n.*908T>A)
c.*576T>A (n.*576T>A)
c.*3112T>A (n.*3112T>A)
c.*531T>A (n.*531T>A)
c.2193T>A (p.Ser731=)
c.27T>A (p.Ser9=)
c.440T>A
n.2732T>A
c.2559T>A (p.Ser853=)
c.1836T>A (p.Ser612=)
c.387T>A (p.Ser129=)
2g.165344581T>CCA429885347SCN2Ac.2589T>C (p.Ser863=)
c.*908T>C (n.*908T>C)
c.*576T>C (n.*576T>C)
c.*3112T>C (n.*3112T>C)
c.*531T>C (n.*531T>C)
c.2193T>C (p.Ser731=)
c.27T>C (p.Ser9=)
c.440T>C
n.2732T>C
c.2559T>C (p.Ser853=)
c.1836T>C (p.Ser612=)
c.387T>C (p.Ser129=)
 dbSNP gnomAD v2 gnomAD v4
2g.165344581T>GCA429885348SCN2Ac.2589T>G (p.Ser863=)
c.*908T>G (n.*908T>G)
c.*576T>G (n.*576T>G)
c.*3112T>G (n.*3112T>G)
c.*531T>G (n.*531T>G)
c.2193T>G (p.Ser731=)
c.27T>G (p.Ser9=)
c.440T>G
n.2732T>G
c.2559T>G (p.Ser853=)
c.1836T>G (p.Ser612=)
c.387T>G (p.Ser129=)
2g.165344581T=CA1304545449SCN2Ac.2589T= (p.Ser863=)
c.*908T= (n.*908T=)
c.*576T= (n.*576T=)
c.*3112T= (n.*3112T=)
c.*531T= (n.*531T=)
c.2193T= (p.Ser731=)
c.27T= (p.Ser9=)
c.440T=
n.2732T=
c.2559T= (p.Ser853=)
c.1836T= (p.Ser612=)
c.387T= (p.Ser129=)
2g.165344582T>ACA349013195SCN2Ac.2590T>A (p.Trp864Arg)
c.*909T>A (n.*909T>A)
c.*577T>A (n.*577T>A)
c.*3113T>A (n.*3113T>A)
c.*532T>A (n.*532T>A)
c.2194T>A (p.Trp732Arg)
c.28T>A (p.Trp10Arg)
c.441T>A
n.2733T>A
c.2560T>A (p.Trp854Arg)
c.1837T>A (p.Trp613Arg)
c.388T>A (p.Trp130Arg)
2g.165344582T>CCA349013198SCN2Ac.2590T>C (p.Trp864Arg)
c.*909T>C (n.*909T>C)
c.*577T>C (n.*577T>C)
c.*3113T>C (n.*3113T>C)
c.*532T>C (n.*532T>C)
c.2194T>C (p.Trp732Arg)
c.28T>C (p.Trp10Arg)
c.441T>C
n.2733T>C
c.2560T>C (p.Trp854Arg)
c.1837T>C (p.Trp613Arg)
c.388T>C (p.Trp130Arg)
2g.165344582T>GCA349013196SCN2Ac.2590T>G (p.Trp864Gly)
c.*909T>G (n.*909T>G)
c.*577T>G (n.*577T>G)
c.*3113T>G (n.*3113T>G)
c.*532T>G (n.*532T>G)
c.2194T>G (p.Trp732Gly)
c.28T>G (p.Trp10Gly)
c.441T>G
n.2733T>G
c.2560T>G (p.Trp854Gly)
c.1837T>G (p.Trp613Gly)
c.388T>G (p.Trp130Gly)
2g.165344583G>ACA349013200SCN2Ac.2591G>A (p.Trp864Ter)
c.*910G>A (n.*910G>A)
c.*578G>A (n.*578G>A)
c.*3114G>A (n.*3114G>A)
c.*533G>A (n.*533G>A)
c.2195G>A (p.Trp732Ter)
c.29G>A (p.Trp10Ter)
c.442G>A
n.2734G>A
c.2561G>A (p.Trp854Ter)
c.1838G>A (p.Trp613Ter)
c.389G>A (p.Trp130Ter)
 dbSNP
2g.165344583G>CCA349013203SCN2Ac.2591G>C (p.Trp864Ser)
c.*910G>C (n.*910G>C)
c.*578G>C (n.*578G>C)
c.*3114G>C (n.*3114G>C)
c.*533G>C (n.*533G>C)
c.2195G>C (p.Trp732Ser)
c.29G>C (p.Trp10Ser)
c.442G>C
n.2734G>C
c.2561G>C (p.Trp854Ser)
c.1838G>C (p.Trp613Ser)
c.389G>C (p.Trp130Ser)
2g.165344583G=CA1304545450SCN2Ac.2591G= (p.Trp864=)
c.*910G= (n.*910G=)
c.*578G= (n.*578G=)
c.*3114G= (n.*3114G=)
c.*533G= (n.*533G=)
c.2195G= (p.Trp732=)
c.29G= (p.Trp10=)
c.442G=
n.2734G=
c.2561G= (p.Trp854=)
c.1838G= (p.Trp613=)
c.389G= (p.Trp130=)
2g.165344583G>TCA349013202SCN2Ac.2591G>T (p.Trp864Leu)
c.*910G>T (n.*910G>T)
c.*578G>T (n.*578G>T)
c.*3114G>T (n.*3114G>T)
c.*533G>T (n.*533G>T)
c.2195G>T (p.Trp732Leu)
c.29G>T (p.Trp10Leu)
c.442G>T
n.2734G>T
c.2561G>T (p.Trp854Leu)
c.1838G>T (p.Trp613Leu)
c.389G>T (p.Trp130Leu)
2g.165344584G>ACA349013205SCN2Ac.2592G>A (p.Trp864Ter)
c.*911G>A (n.*911G>A)
c.*579G>A (n.*579G>A)
c.*3115G>A (n.*3115G>A)
c.*534G>A (n.*534G>A)
c.2196G>A (p.Trp732Ter)
c.30G>A (p.Trp10Ter)
c.443G>A
n.2735G>A
c.2562G>A (p.Trp854Ter)
c.1839G>A (p.Trp613Ter)
c.390G>A (p.Trp130Ter)
 ClinVar dbSNP
2g.165344584G>CCA349013208SCN2Ac.2592G>C (p.Trp864Cys)
c.*911G>C (n.*911G>C)
c.*579G>C (n.*579G>C)
c.*3115G>C (n.*3115G>C)
c.*534G>C (n.*534G>C)
c.2196G>C (p.Trp732Cys)
c.30G>C (p.Trp10Cys)
c.443G>C
n.2735G>C
c.2562G>C (p.Trp854Cys)
c.1839G>C (p.Trp613Cys)
c.390G>C (p.Trp130Cys)
2g.165344584G=CA1304545451SCN2Ac.2592G= (p.Trp864=)
c.*911G= (n.*911G=)
c.*579G= (n.*579G=)
c.*3115G= (n.*3115G=)
c.*534G= (n.*534G=)
c.2196G= (p.Trp732=)
c.30G= (p.Trp10=)
c.443G=
n.2735G=
c.2562G= (p.Trp854=)
c.1839G= (p.Trp613=)
c.390G= (p.Trp130=)
2g.165344584G>TCA349013211SCN2Ac.2592G>T (p.Trp864Cys)
c.*911G>T (n.*911G>T)
c.*579G>T (n.*579G>T)
c.*3115G>T (n.*3115G>T)
c.*534G>T (n.*534G>T)
c.2196G>T (p.Trp732Cys)
c.30G>T (p.Trp10Cys)
c.443G>T
n.2735G>T
c.2562G>T (p.Trp854Cys)
c.1839G>T (p.Trp613Cys)
c.390G>T (p.Trp130Cys)
2g.165344585C>ACA349013214SCN2Ac.2593C>A (p.Pro865Thr)
c.*912C>A (n.*912C>A)
c.*580C>A (n.*580C>A)
c.*3116C>A (n.*3116C>A)
c.*535C>A (n.*535C>A)
c.2197C>A (p.Pro733Thr)
c.31C>A (p.Pro11Thr)
c.444C>A
n.2736C>A
c.2563C>A (p.Pro855Thr)
c.1840C>A (p.Pro614Thr)
c.391C>A (p.Pro131Thr)
2g.165344585C>GCA349013217SCN2Ac.2593C>G (p.Pro865Ala)
c.*912C>G (n.*912C>G)
c.*580C>G (n.*580C>G)
c.*3116C>G (n.*3116C>G)
c.*535C>G (n.*535C>G)
c.2197C>G (p.Pro733Ala)
c.31C>G (p.Pro11Ala)
c.444C>G
n.2736C>G
c.2563C>G (p.Pro855Ala)
c.1840C>G (p.Pro614Ala)
c.391C>G (p.Pro131Ala)
2g.165344585C>TCA349013218SCN2Ac.2593C>T (p.Pro865Ser)
c.*912C>T (n.*912C>T)
c.*580C>T (n.*580C>T)
c.*3116C>T (n.*3116C>T)
c.*535C>T (n.*535C>T)
c.2197C>T (p.Pro733Ser)
c.31C>T (p.Pro11Ser)
c.444C>T
n.2736C>T
c.2563C>T (p.Pro855Ser)
c.1840C>T (p.Pro614Ser)
c.391C>T (p.Pro131Ser)
2g.165344586C>ACA349013221SCN2Ac.2594C>A (p.Pro865Gln)
c.*913C>A (n.*913C>A)
c.*581C>A (n.*581C>A)
c.*3117C>A (n.*3117C>A)
c.*536C>A (n.*536C>A)
c.2198C>A (p.Pro733Gln)
c.32C>A (p.Pro11Gln)
c.445C>A
n.2737C>A
c.2564C>A (p.Pro855Gln)
c.1841C>A (p.Pro614Gln)
c.392C>A (p.Pro131Gln)
2g.165344586C>GCA349013223SCN2Ac.2594C>G (p.Pro865Arg)
c.*913C>G (n.*913C>G)
c.*581C>G (n.*581C>G)
c.*3117C>G (n.*3117C>G)
c.*536C>G (n.*536C>G)
c.2198C>G (p.Pro733Arg)
c.32C>G (p.Pro11Arg)
c.445C>G
n.2737C>G
c.2564C>G (p.Pro855Arg)
c.1841C>G (p.Pro614Arg)
c.392C>G (p.Pro131Arg)
2g.165344586C>TCA349013224SCN2Ac.2594C>T (p.Pro865Leu)
c.*913C>T (n.*913C>T)
c.*581C>T (n.*581C>T)
c.*3117C>T (n.*3117C>T)
c.*536C>T (n.*536C>T)
c.2198C>T (p.Pro733Leu)
c.32C>T (p.Pro11Leu)
c.445C>T
n.2737C>T
c.2564C>T (p.Pro855Leu)
c.1841C>T (p.Pro614Leu)
c.392C>T (p.Pro131Leu)
2g.165344587A=CA1304545452SCN2Ac.2595A= (p.Pro865=)
c.*914A= (n.*914A=)
c.*582A= (n.*582A=)
c.*3118A= (n.*3118A=)
c.*537A= (n.*537A=)
c.2199A= (p.Pro733=)
c.33A= (p.Pro11=)
c.446A=
n.2738A=
c.2565A= (p.Pro855=)
c.1842A= (p.Pro614=)
c.393A= (p.Pro131=)
2g.165344587A>CCA429885350SCN2Ac.2595A>C (p.Pro865=)
c.*914A>C (n.*914A>C)
c.*582A>C (n.*582A>C)
c.*3118A>C (n.*3118A>C)
c.*537A>C (n.*537A>C)
c.2199A>C (p.Pro733=)
c.33A>C (p.Pro11=)
c.446A>C
n.2738A>C
c.2565A>C (p.Pro855=)
c.1842A>C (p.Pro614=)
c.393A>C (p.Pro131=)
 gnomAD v4
2g.165344587A>GCA429885351SCN2Ac.2595A>G (p.Pro865=)
c.*914A>G (n.*914A>G)
c.*582A>G (n.*582A>G)
c.*3118A>G (n.*3118A>G)
c.*537A>G (n.*537A>G)
c.2199A>G (p.Pro733=)
c.33A>G (p.Pro11=)
c.446A>G
n.2738A>G
c.2565A>G (p.Pro855=)
c.1842A>G (p.Pro614=)
c.393A>G (p.Pro131=)
2g.165344587A>TCA429885352SCN2Ac.2595A>T (p.Pro865=)
c.*914A>T (n.*914A>T)
c.*582A>T (n.*582A>T)
c.*3118A>T (n.*3118A>T)
c.*537A>T (n.*537A>T)
c.2199A>T (p.Pro733=)
c.33A>T (p.Pro11=)
c.446A>T
n.2738A>T
c.2565A>T (p.Pro855=)
c.1842A>T (p.Pro614=)
c.393A>T (p.Pro131=)
 dbSNP
2g.165344588A>CCA349013226SCN2Ac.2596A>C (p.Thr866Pro)
c.*915A>C (n.*915A>C)
c.*583A>C (n.*583A>C)
c.*3119A>C (n.*3119A>C)
c.*538A>C (n.*538A>C)
c.2200A>C (p.Thr734Pro)
c.34A>C (p.Thr12Pro)
c.447A>C
n.2739A>C
c.2566A>C (p.Thr856Pro)
c.1843A>C (p.Thr615Pro)
c.394A>C (p.Thr132Pro)
 COSMIC COSMIC
2g.165344588A>GCA349013227SCN2Ac.2596A>G (p.Thr866Ala)
c.*915A>G (n.*915A>G)
c.*583A>G (n.*583A>G)
c.*3119A>G (n.*3119A>G)
c.*538A>G (n.*538A>G)
c.2200A>G (p.Thr734Ala)
c.34A>G (p.Thr12Ala)
c.447A>G
n.2739A>G
c.2566A>G (p.Thr856Ala)
c.1843A>G (p.Thr615Ala)
c.394A>G (p.Thr132Ala)
2g.165344588A>TCA349013228SCN2Ac.2596A>T (p.Thr866Ser)
c.*915A>T (n.*915A>T)
c.*583A>T (n.*583A>T)
c.*3119A>T (n.*3119A>T)
c.*538A>T (n.*538A>T)
c.2200A>T (p.Thr734Ser)
c.34A>T (p.Thr12Ser)
c.447A>T
n.2739A>T
c.2566A>T (p.Thr856Ser)
c.1843A>T (p.Thr615Ser)
c.394A>T (p.Thr132Ser)
2g.165344589C>ACA349013231SCN2Ac.2597C>A (p.Thr866Asn)
c.*916C>A (n.*916C>A)
c.*584C>A (n.*584C>A)
c.*3120C>A (n.*3120C>A)
c.*539C>A (n.*539C>A)
c.2201C>A (p.Thr734Asn)
c.35C>A (p.Thr12Asn)
c.448C>A
n.2740C>A
c.2567C>A (p.Thr856Asn)
c.1844C>A (p.Thr615Asn)
c.395C>A (p.Thr132Asn)
2g.165344589C=CA1304545453SCN2Ac.2597C= (p.Thr866=)
c.*916C= (n.*916C=)
c.*584C= (n.*584C=)
c.*3120C= (n.*3120C=)
c.*539C= (n.*539C=)
c.2201C= (p.Thr734=)
c.35C= (p.Thr12=)
c.448C=
n.2740C=
c.2567C= (p.Thr856=)
c.1844C= (p.Thr615=)
c.395C= (p.Thr132=)
2g.165344589C>GCA349013229SCN2Ac.2597C>G (p.Thr866Ser)
c.*916C>G (n.*916C>G)
c.*584C>G (n.*584C>G)
c.*3120C>G (n.*3120C>G)
c.*539C>G (n.*539C>G)
c.2201C>G (p.Thr734Ser)
c.35C>G (p.Thr12Ser)
c.448C>G
n.2740C>G
c.2567C>G (p.Thr856Ser)
c.1844C>G (p.Thr615Ser)
c.395C>G (p.Thr132Ser)
2g.165344589C>TCA349013230SCN2Ac.2597C>T (p.Thr866Ile)
c.*916C>T (n.*916C>T)
c.*584C>T (n.*584C>T)
c.*3120C>T (n.*3120C>T)
c.*539C>T (n.*539C>T)
c.2201C>T (p.Thr734Ile)
c.35C>T (p.Thr12Ile)
c.448C>T
n.2740C>T
c.2567C>T (p.Thr856Ile)
c.1844C>T (p.Thr615Ile)
c.395C>T (p.Thr132Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165344590T>ACA429885353SCN2Ac.2598T>A (p.Thr866=)
c.*917T>A (n.*917T>A)
c.*585T>A (n.*585T>A)
c.*3121T>A (n.*3121T>A)
c.*540T>A (n.*540T>A)
c.2202T>A (p.Thr734=)
c.36T>A (p.Thr12=)
c.449T>A
n.2741T>A
c.2568T>A (p.Thr856=)
c.1845T>A (p.Thr615=)
c.396T>A (p.Thr132=)
2g.165344590T>CCA429885354SCN2Ac.2598T>C (p.Thr866=)
c.*917T>C (n.*917T>C)
c.*585T>C (n.*585T>C)
c.*3121T>C (n.*3121T>C)
c.*540T>C (n.*540T>C)
c.2202T>C (p.Thr734=)
c.36T>C (p.Thr12=)
c.449T>C
n.2741T>C
c.2568T>C (p.Thr856=)
c.1845T>C (p.Thr615=)
c.396T>C (p.Thr132=)
 ClinVar dbSNP gnomAD v4
2g.165344590T>GCA429885355SCN2Ac.2598T>G (p.Thr866=)
c.*917T>G (n.*917T>G)
c.*585T>G (n.*585T>G)
c.*3121T>G (n.*3121T>G)
c.*540T>G (n.*540T>G)
c.2202T>G (p.Thr734=)
c.36T>G (p.Thr12=)
c.449T>G
n.2741T>G
c.2568T>G (p.Thr856=)
c.1845T>G (p.Thr615=)
c.396T>G (p.Thr132=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165344590T=CA1304545454SCN2Ac.2598T= (p.Thr866=)
c.*917T= (n.*917T=)
c.*585T= (n.*585T=)
c.*3121T= (n.*3121T=)
c.*540T= (n.*540T=)
c.2202T= (p.Thr734=)
c.36T= (p.Thr12=)
c.449T=
n.2741T=
c.2568T= (p.Thr856=)
c.1845T= (p.Thr615=)
c.396T= (p.Thr132=)
2g.165344591C>ACA349013233SCN2Ac.2599C>A (p.Leu867Ile)
c.*918C>A (n.*918C>A)
c.*586C>A (n.*586C>A)
c.*3122C>A (n.*3122C>A)
c.*541C>A (n.*541C>A)
c.2203C>A (p.Leu735Ile)
c.37C>A (p.Leu13Ile)
c.450C>A
n.2742C>A
c.2569C>A (p.Leu857Ile)
c.1846C>A (p.Leu616Ile)
c.397C>A (p.Leu133Ile)
2g.165344591C>GCA349013235SCN2Ac.2599C>G (p.Leu867Val)
c.*918C>G (n.*918C>G)
c.*586C>G (n.*586C>G)
c.*3122C>G (n.*3122C>G)
c.*541C>G (n.*541C>G)
c.2203C>G (p.Leu735Val)
c.37C>G (p.Leu13Val)
c.450C>G
n.2742C>G
c.2569C>G (p.Leu857Val)
c.1846C>G (p.Leu616Val)
c.397C>G (p.Leu133Val)
2g.165344591C>TCA429885356SCN2Ac.2599C>T (p.Leu867=)
c.*918C>T (n.*918C>T)
c.*586C>T (n.*586C>T)
c.*3122C>T (n.*3122C>T)
c.*541C>T (n.*541C>T)
c.2203C>T (p.Leu735=)
c.37C>T (p.Leu13=)
c.450C>T
n.2742C>T
c.2569C>T (p.Leu857=)
c.1846C>T (p.Leu616=)
c.397C>T (p.Leu133=)
2g.165344592T>ACA349013236SCN2Ac.2600T>A (p.Leu867Gln)
c.*919T>A (n.*919T>A)
c.*587T>A (n.*587T>A)
c.*3123T>A (n.*3123T>A)
c.*542T>A (n.*542T>A)
c.2204T>A (p.Leu735Gln)
c.38T>A (p.Leu13Gln)
c.451T>A
n.2743T>A
c.2570T>A (p.Leu857Gln)
c.1847T>A (p.Leu616Gln)
c.398T>A (p.Leu133Gln)
2g.165344592T>CCA349013238SCN2Ac.2600T>C (p.Leu867Pro)
c.*919T>C (n.*919T>C)
c.*587T>C (n.*587T>C)
c.*3123T>C (n.*3123T>C)
c.*542T>C (n.*542T>C)
c.2204T>C (p.Leu735Pro)
c.38T>C (p.Leu13Pro)
c.451T>C
n.2743T>C
c.2570T>C (p.Leu857Pro)
c.1847T>C (p.Leu616Pro)
c.398T>C (p.Leu133Pro)
2g.165344592T>GCA349013240SCN2Ac.2600T>G (p.Leu867Arg)
c.*919T>G (n.*919T>G)
c.*587T>G (n.*587T>G)
c.*3123T>G (n.*3123T>G)
c.*542T>G (n.*542T>G)
c.2204T>G (p.Leu735Arg)
c.38T>G (p.Leu13Arg)
c.451T>G
n.2743T>G
c.2570T>G (p.Leu857Arg)
c.1847T>G (p.Leu616Arg)
c.398T>G (p.Leu133Arg)
2g.165344593A>CCA429885359SCN2Ac.2601A>C (p.Leu867=)
c.*920A>C (n.*920A>C)
c.*588A>C (n.*588A>C)
c.*3124A>C (n.*3124A>C)
c.*543A>C (n.*543A>C)
c.2205A>C (p.Leu735=)
c.39A>C (p.Leu13=)
c.452A>C
n.2744A>C
c.2571A>C (p.Leu857=)
c.1848A>C (p.Leu616=)
c.399A>C (p.Leu133=)
 gnomAD v4
2g.165344593A>GCA429885358SCN2Ac.2601A>G (p.Leu867=)
c.*920A>G (n.*920A>G)
c.*588A>G (n.*588A>G)
c.*3124A>G (n.*3124A>G)
c.*543A>G (n.*543A>G)
c.2205A>G (p.Leu735=)
c.39A>G (p.Leu13=)
c.452A>G
n.2744A>G
c.2571A>G (p.Leu857=)
c.1848A>G (p.Leu616=)
c.399A>G (p.Leu133=)
2g.165344593A>TCA429885357SCN2Ac.2601A>T (p.Leu867=)
c.*920A>T (n.*920A>T)
c.*588A>T (n.*588A>T)
c.*3124A>T (n.*3124A>T)
c.*543A>T (n.*543A>T)
c.2205A>T (p.Leu735=)
c.39A>T (p.Leu13=)
c.452A>T
n.2744A>T
c.2571A>T (p.Leu857=)
c.1848A>T (p.Leu616=)
c.399A>T (p.Leu133=)
2g.165344594A>CCA349013247SCN2Ac.2602A>C (p.Asn868His)
c.*921A>C (n.*921A>C)
c.*589A>C (n.*589A>C)
c.*3125A>C (n.*3125A>C)
c.*544A>C (n.*544A>C)
c.2206A>C (p.Asn736His)
c.40A>C (p.Asn14His)
c.453A>C
n.2745A>C
c.2572A>C (p.Asn858His)
c.1849A>C (p.Asn617His)
c.400A>C (p.Asn134His)
2g.165344594A>GCA349013256SCN2Ac.2602A>G (p.Asn868Asp)
c.*921A>G (n.*921A>G)
c.*589A>G (n.*589A>G)
c.*3125A>G (n.*3125A>G)
c.*544A>G (n.*544A>G)
c.2206A>G (p.Asn736Asp)
c.40A>G (p.Asn14Asp)
c.453A>G
n.2745A>G
c.2572A>G (p.Asn858Asp)
c.1849A>G (p.Asn617Asp)
c.400A>G (p.Asn134Asp)
2g.165344594A>TCA349013258SCN2Ac.2602A>T (p.Asn868Tyr)
c.*921A>T (n.*921A>T)
c.*589A>T (n.*589A>T)
c.*3125A>T (n.*3125A>T)
c.*544A>T (n.*544A>T)
c.2206A>T (p.Asn736Tyr)
c.40A>T (p.Asn14Tyr)
c.453A>T
n.2745A>T
c.2572A>T (p.Asn858Tyr)
c.1849A>T (p.Asn617Tyr)
c.400A>T (p.Asn134Tyr)
2g.165344595A>CCA349013260SCN2Ac.2603A>C (p.Asn868Thr)
c.*922A>C (n.*922A>C)
c.*590A>C (n.*590A>C)
c.*3126A>C (n.*3126A>C)
c.*545A>C (n.*545A>C)
c.2207A>C (p.Asn736Thr)
c.41A>C (p.Asn14Thr)
c.454A>C
n.2746A>C
c.2573A>C (p.Asn858Thr)
c.1850A>C (p.Asn617Thr)
c.401A>C (p.Asn134Thr)
2g.165344595A>GCA349013261SCN2Ac.2603A>G (p.Asn868Ser)
c.*922A>G (n.*922A>G)
c.*590A>G (n.*590A>G)
c.*3126A>G (n.*3126A>G)
c.*545A>G (n.*545A>G)
c.2207A>G (p.Asn736Ser)
c.41A>G (p.Asn14Ser)
c.454A>G
n.2746A>G
c.2573A>G (p.Asn858Ser)
c.1850A>G (p.Asn617Ser)
c.401A>G (p.Asn134Ser)
 gnomAD v4
2g.165344595A>TCA349013262SCN2Ac.2603A>T (p.Asn868Ile)
c.*922A>T (n.*922A>T)
c.*590A>T (n.*590A>T)
c.*3126A>T (n.*3126A>T)
c.*545A>T (n.*545A>T)
c.2207A>T (p.Asn736Ile)
c.41A>T (p.Asn14Ile)
c.454A>T
n.2746A>T
c.2573A>T (p.Asn858Ile)
c.1850A>T (p.Asn617Ile)
c.401A>T (p.Asn134Ile)
2g.165344596T>ACA349013264SCN2Ac.2604T>A (p.Asn868Lys)
c.*923T>A (n.*923T>A)
c.*591T>A (n.*591T>A)
c.*3127T>A (n.*3127T>A)
c.*546T>A (n.*546T>A)
c.2208T>A (p.Asn736Lys)
c.42T>A (p.Asn14Lys)
c.455T>A
n.2747T>A
c.2574T>A (p.Asn858Lys)
c.1851T>A (p.Asn617Lys)
c.402T>A (p.Asn134Lys)
2g.165344596T>CCA429885360SCN2Ac.2604T>C (p.Asn868=)
c.*923T>C (n.*923T>C)
c.*591T>C (n.*591T>C)
c.*3127T>C (n.*3127T>C)
c.*546T>C (n.*546T>C)
c.2208T>C (p.Asn736=)
c.42T>C (p.Asn14=)
c.455T>C
n.2747T>C
c.2574T>C (p.Asn858=)
c.1851T>C (p.Asn617=)
c.402T>C (p.Asn134=)
 ClinVar COSMIC COSMIC
2g.165344596T>GCA317874SCN2Ac.2604T>G (p.Asn868Lys)
c.*923T>G (n.*923T>G)
c.*591T>G (n.*591T>G)
c.*3127T>G (n.*3127T>G)
c.*546T>G (n.*546T>G)
c.2208T>G (p.Asn736Lys)
c.42T>G (p.Asn14Lys)
c.455T>G
n.2747T>G
c.2574T>G (p.Asn858Lys)
c.1851T>G (p.Asn617Lys)
c.402T>G (p.Asn134Lys)
 ClinVar dbSNP
2g.165344596T=CA1304545455SCN2Ac.2604T= (p.Asn868=)
c.*923T= (n.*923T=)
c.*591T= (n.*591T=)
c.*3127T= (n.*3127T=)
c.*546T= (n.*546T=)
c.2208T= (p.Asn736=)
c.42T= (p.Asn14=)
c.455T=
n.2747T=
c.2574T= (p.Asn858=)
c.1851T= (p.Asn617=)
c.402T= (p.Asn134=)
2g.165344597A=CA1304545456SCN2Ac.2605A= (p.Met869=)
c.*924A= (n.*924A=)
c.*592A= (n.*592A=)
c.*3128A= (n.*3128A=)
c.*547A= (n.*547A=)
c.2209A= (p.Met737=)
c.43A= (p.Met15=)
c.456A=
n.2748A=
c.2575A= (p.Met859=)
c.1852A= (p.Met618=)
c.403A= (p.Met135=)
2g.165344597A>CCA349013268SCN2Ac.2605A>C (p.Met869Leu)
c.*924A>C (n.*924A>C)
c.*592A>C (n.*592A>C)
c.*3128A>C (n.*3128A>C)
c.*547A>C (n.*547A>C)
c.2209A>C (p.Met737Leu)
c.43A>C (p.Met15Leu)
c.456A>C
n.2748A>C
c.2575A>C (p.Met859Leu)
c.1852A>C (p.Met618Leu)
c.403A>C (p.Met135Leu)
2g.165344597A>GCA59719961SCN2Ac.2605A>G (p.Met869Val)
c.*924A>G (n.*924A>G)
c.*592A>G (n.*592A>G)
c.*3128A>G (n.*3128A>G)
c.*547A>G (n.*547A>G)
c.2209A>G (p.Met737Val)
c.43A>G (p.Met15Val)
c.456A>G
n.2748A>G
c.2575A>G (p.Met859Val)
c.1852A>G (p.Met618Val)
c.403A>G (p.Met135Val)
 dbSNP gnomAD v4
2g.165344597A>TCA349013276SCN2Ac.2605A>T (p.Met869Leu)
c.*924A>T (n.*924A>T)
c.*592A>T (n.*592A>T)
c.*3128A>T (n.*3128A>T)
c.*547A>T (n.*547A>T)
c.2209A>T (p.Met737Leu)
c.43A>T (p.Met15Leu)
c.456A>T
n.2748A>T
c.2575A>T (p.Met859Leu)
c.1852A>T (p.Met618Leu)
c.403A>T (p.Met135Leu)
2g.165344598T>ACA349013278SCN2Ac.2606T>A (p.Met869Lys)
c.*925T>A (n.*925T>A)
c.*593T>A (n.*593T>A)
c.*3129T>A (n.*3129T>A)
c.*548T>A (n.*548T>A)
c.2210T>A (p.Met737Lys)
c.44T>A (p.Met15Lys)
c.457T>A
n.2749T>A
c.2576T>A (p.Met859Lys)
c.1853T>A (p.Met618Lys)
c.404T>A (p.Met135Lys)
2g.165344598T>CCA349013279SCN2Ac.2606T>C (p.Met869Thr)
c.*925T>C (n.*925T>C)
c.*593T>C (n.*593T>C)
c.*3129T>C (n.*3129T>C)
c.*548T>C (n.*548T>C)
c.2210T>C (p.Met737Thr)
c.44T>C (p.Met15Thr)
c.457T>C
n.2749T>C
c.2576T>C (p.Met859Thr)
c.1853T>C (p.Met618Thr)
c.404T>C (p.Met135Thr)
2g.165344598T>GCA349013280SCN2Ac.2606T>G (p.Met869Arg)
c.*925T>G (n.*925T>G)
c.*593T>G (n.*593T>G)
c.*3129T>G (n.*3129T>G)
c.*548T>G (n.*548T>G)
c.2210T>G (p.Met737Arg)
c.44T>G (p.Met15Arg)
c.457T>G
n.2749T>G
c.2576T>G (p.Met859Arg)
c.1853T>G (p.Met618Arg)
c.404T>G (p.Met135Arg)
2g.165344599G>ACA349013282SCN2Ac.2607G>A (p.Met869Ile)
c.*926G>A (n.*926G>A)
c.*594G>A (n.*594G>A)
c.*3130G>A (n.*3130G>A)
c.*549G>A (n.*549G>A)
c.2211G>A (p.Met737Ile)
c.45G>A (p.Met15Ile)
c.458G>A
n.2750G>A
c.2577G>A (p.Met859Ile)
c.1854G>A (p.Met618Ile)
c.405G>A (p.Met135Ile)
2g.165344599G>CCA349013284SCN2Ac.2607G>C (p.Met869Ile)
c.*926G>C (n.*926G>C)
c.*594G>C (n.*594G>C)
c.*3130G>C (n.*3130G>C)
c.*549G>C (n.*549G>C)
c.2211G>C (p.Met737Ile)
c.45G>C (p.Met15Ile)
c.458G>C
n.2750G>C
c.2577G>C (p.Met859Ile)
c.1854G>C (p.Met618Ile)
c.405G>C (p.Met135Ile)
2g.165344599G>TCA349013286SCN2Ac.2607G>T (p.Met869Ile)
c.*926G>T (n.*926G>T)
c.*594G>T (n.*594G>T)
c.*3130G>T (n.*3130G>T)
c.*549G>T (n.*549G>T)
c.2211G>T (p.Met737Ile)
c.45G>T (p.Met15Ile)
c.458G>T
n.2750G>T
c.2577G>T (p.Met859Ile)
c.1854G>T (p.Met618Ile)
c.405G>T (p.Met135Ile)
2g.165344600C>ACA349013287SCN2Ac.2608C>A (p.Leu870Ile)
c.*927C>A (n.*927C>A)
c.*595C>A (n.*595C>A)
c.*3131C>A (n.*3131C>A)
c.*550C>A (n.*550C>A)
c.2212C>A (p.Leu738Ile)
c.46C>A (p.Leu16Ile)
c.459C>A
n.2751C>A
c.2578C>A (p.Leu860Ile)
c.1855C>A (p.Leu619Ile)
c.406C>A (p.Leu136Ile)
2g.165344600C>GCA349013289SCN2Ac.2608C>G (p.Leu870Val)
c.*927C>G (n.*927C>G)
c.*595C>G (n.*595C>G)
c.*3131C>G (n.*3131C>G)
c.*550C>G (n.*550C>G)
c.2212C>G (p.Leu738Val)
c.46C>G (p.Leu16Val)
c.459C>G
n.2751C>G
c.2578C>G (p.Leu860Val)
c.1855C>G (p.Leu619Val)
c.406C>G (p.Leu136Val)
2g.165344600C>TCA429885361SCN2Ac.2608C>T (p.Leu870=)
c.*927C>T (n.*927C>T)
c.*595C>T (n.*595C>T)
c.*3131C>T (n.*3131C>T)
c.*550C>T (n.*550C>T)
c.2212C>T (p.Leu738=)
c.46C>T (p.Leu16=)
c.459C>T
n.2751C>T
c.2578C>T (p.Leu860=)
c.1855C>T (p.Leu619=)
c.406C>T (p.Leu136=)
 gnomAD v4
2g.165344601T>ACA349013299SCN2Ac.2609T>A (p.Leu870Gln)
c.*928T>A (n.*928T>A)
c.*596T>A (n.*596T>A)
c.*3132T>A (n.*3132T>A)
c.*551T>A (n.*551T>A)
c.2213T>A (p.Leu738Gln)
c.47T>A (p.Leu16Gln)
c.460T>A
n.2752T>A
c.2579T>A (p.Leu860Gln)
c.1856T>A (p.Leu619Gln)
c.407T>A (p.Leu136Gln)
2g.165344601T>CCA349013297SCN2Ac.2609T>C (p.Leu870Pro)
c.*928T>C (n.*928T>C)
c.*596T>C (n.*596T>C)
c.*3132T>C (n.*3132T>C)
c.*551T>C (n.*551T>C)
c.2213T>C (p.Leu738Pro)
c.47T>C (p.Leu16Pro)
c.460T>C
n.2752T>C
c.2579T>C (p.Leu860Pro)
c.1856T>C (p.Leu619Pro)
c.407T>C (p.Leu136Pro)
2g.165344601T>GCA349013296SCN2Ac.2609T>G (p.Leu870Arg)
c.*928T>G (n.*928T>G)
c.*596T>G (n.*596T>G)
c.*3132T>G (n.*3132T>G)
c.*551T>G (n.*551T>G)
c.2213T>G (p.Leu738Arg)
c.47T>G (p.Leu16Arg)
c.460T>G
n.2752T>G
c.2579T>G (p.Leu860Arg)
c.1856T>G (p.Leu619Arg)
c.407T>G (p.Leu136Arg)
2g.165344602A>CCA429885362SCN2Ac.2610A>C (p.Leu870=)
c.*929A>C (n.*929A>C)
c.*597A>C (n.*597A>C)
c.*3133A>C (n.*3133A>C)
c.*552A>C (n.*552A>C)
c.2214A>C (p.Leu738=)
c.48A>C (p.Leu16=)
c.461A>C
n.2753A>C
c.2580A>C (p.Leu860=)
c.1857A>C (p.Leu619=)
c.408A>C (p.Leu136=)
2g.165344602A>GCA429885363SCN2Ac.2610A>G (p.Leu870=)
c.*929A>G (n.*929A>G)
c.*597A>G (n.*597A>G)
c.*3133A>G (n.*3133A>G)
c.*552A>G (n.*552A>G)
c.2214A>G (p.Leu738=)
c.48A>G (p.Leu16=)
c.461A>G
n.2753A>G
c.2580A>G (p.Leu860=)
c.1857A>G (p.Leu619=)
c.408A>G (p.Leu136=)
2g.165344602A>TCA429885364SCN2Ac.2610A>T (p.Leu870=)
c.*929A>T (n.*929A>T)
c.*597A>T (n.*597A>T)
c.*3133A>T (n.*3133A>T)
c.*552A>T (n.*552A>T)
c.2214A>T (p.Leu738=)
c.48A>T (p.Leu16=)
c.461A>T
n.2753A>T
c.2580A>T (p.Leu860=)
c.1857A>T (p.Leu619=)
c.408A>T (p.Leu136=)
2g.165344603A>CCA349013302SCN2Ac.2611A>C (p.Ile871Leu)
c.*930A>C (n.*930A>C)
c.*598A>C (n.*598A>C)
c.*3134A>C (n.*3134A>C)
c.*553A>C (n.*553A>C)
c.2215A>C (p.Ile739Leu)
c.49A>C (p.Ile17Leu)
c.462A>C
n.2754A>C
c.2581A>C (p.Ile861Leu)
c.1858A>C (p.Ile620Leu)
c.409A>C (p.Ile137Leu)
2g.165344603A>GCA349013303SCN2Ac.2611A>G (p.Ile871Val)
c.*930A>G (n.*930A>G)
c.*598A>G (n.*598A>G)
c.*3134A>G (n.*3134A>G)
c.*553A>G (n.*553A>G)
c.2215A>G (p.Ile739Val)
c.49A>G (p.Ile17Val)
c.462A>G
n.2754A>G
c.2581A>G (p.Ile861Val)
c.1858A>G (p.Ile620Val)
c.409A>G (p.Ile137Val)
2g.165344603A>TCA349013306SCN2Ac.2611A>T (p.Ile871Phe)
c.*930A>T (n.*930A>T)
c.*598A>T (n.*598A>T)
c.*3134A>T (n.*3134A>T)
c.*553A>T (n.*553A>T)
c.2215A>T (p.Ile739Phe)
c.49A>T (p.Ile17Phe)
c.462A>T
n.2754A>T
c.2581A>T (p.Ile861Phe)
c.1858A>T (p.Ile620Phe)
c.409A>T (p.Ile137Phe)
2g.165344604T>ACA349013309SCN2Ac.2612T>A (p.Ile871Asn)
c.*931T>A (n.*931T>A)
c.*599T>A (n.*599T>A)
c.*3135T>A (n.*3135T>A)
c.*554T>A (n.*554T>A)
c.2216T>A (p.Ile739Asn)
c.50T>A (p.Ile17Asn)
c.463T>A
n.2755T>A
c.2582T>A (p.Ile861Asn)
c.1859T>A (p.Ile620Asn)
c.410T>A (p.Ile137Asn)
2g.165344604T>CCA349013311SCN2Ac.2612T>C (p.Ile871Thr)
c.*931T>C (n.*931T>C)
c.*599T>C (n.*599T>C)
c.*3135T>C (n.*3135T>C)
c.*554T>C (n.*554T>C)
c.2216T>C (p.Ile739Thr)
c.50T>C (p.Ile17Thr)
c.463T>C
n.2755T>C
c.2582T>C (p.Ile861Thr)
c.1859T>C (p.Ile620Thr)
c.410T>C (p.Ile137Thr)
2g.165344604T>GCA349013312SCN2Ac.2612T>G (p.Ile871Ser)
c.*931T>G (n.*931T>G)
c.*599T>G (n.*599T>G)
c.*3135T>G (n.*3135T>G)
c.*554T>G (n.*554T>G)
c.2216T>G (p.Ile739Ser)
c.50T>G (p.Ile17Ser)
c.463T>G
n.2755T>G
c.2582T>G (p.Ile861Ser)
c.1859T>G (p.Ile620Ser)
c.410T>G (p.Ile137Ser)
2g.165344605T>ACA429885365SCN2Ac.2613T>A (p.Ile871=)
c.*932T>A (n.*932T>A)
c.*600T>A (n.*600T>A)
c.*3136T>A (n.*3136T>A)
c.*555T>A (n.*555T>A)
c.2217T>A (p.Ile739=)
c.51T>A (p.Ile17=)
c.464T>A
n.2756T>A
c.2583T>A (p.Ile861=)
c.1860T>A (p.Ile620=)
c.411T>A (p.Ile137=)
2g.165344605T>CCA429885366SCN2Ac.2613T>C (p.Ile871=)
c.*932T>C (n.*932T>C)
c.*600T>C (n.*600T>C)
c.*3136T>C (n.*3136T>C)
c.*555T>C (n.*555T>C)
c.2217T>C (p.Ile739=)
c.51T>C (p.Ile17=)
c.464T>C
n.2756T>C
c.2583T>C (p.Ile861=)
c.1860T>C (p.Ile620=)
c.411T>C (p.Ile137=)
2g.165344605T>GCA349013315SCN2Ac.2613T>G (p.Ile871Met)
c.*932T>G (n.*932T>G)
c.*600T>G (n.*600T>G)
c.*3136T>G (n.*3136T>G)
c.*555T>G (n.*555T>G)
c.2217T>G (p.Ile739Met)
c.51T>G (p.Ile17Met)
c.464T>G
n.2756T>G
c.2583T>G (p.Ile861Met)
c.1860T>G (p.Ile620Met)
c.411T>G (p.Ile137Met)
2g.165344606A=CA1304545457SCN2Ac.2614A= (p.Lys872=)
c.*933A= (n.*933A=)
c.*601A= (n.*601A=)
c.*3137A= (n.*3137A=)
c.*556A= (n.*556A=)
c.2218A= (p.Lys740=)
c.52A= (p.Lys18=)
c.465A=
n.2757A=
c.2584A= (p.Lys862=)
c.1861A= (p.Lys621=)
c.412A= (p.Lys138=)
2g.165344606A>CCA349013317SCN2Ac.2614A>C (p.Lys872Gln)
c.*933A>C (n.*933A>C)
c.*601A>C (n.*601A>C)
c.*3137A>C (n.*3137A>C)
c.*556A>C (n.*556A>C)
c.2218A>C (p.Lys740Gln)
c.52A>C (p.Lys18Gln)
c.465A>C
n.2757A>C
c.2584A>C (p.Lys862Gln)
c.1861A>C (p.Lys621Gln)
c.412A>C (p.Lys138Gln)
2g.165344606A>GCA349013319SCN2Ac.2614A>G (p.Lys872Glu)
c.*933A>G (n.*933A>G)
c.*601A>G (n.*601A>G)
c.*3137A>G (n.*3137A>G)
c.*556A>G (n.*556A>G)
c.2218A>G (p.Lys740Glu)
c.52A>G (p.Lys18Glu)
c.465A>G
n.2757A>G
c.2584A>G (p.Lys862Glu)
c.1861A>G (p.Lys621Glu)
c.412A>G (p.Lys138Glu)
2g.165344606A>TCA349013321SCN2Ac.2614A>T (p.Lys872Ter)
c.*933A>T (n.*933A>T)
c.*601A>T (n.*601A>T)
c.*3137A>T (n.*3137A>T)
c.*556A>T (n.*556A>T)
c.2218A>T (p.Lys740Ter)
c.52A>T (p.Lys18Ter)
c.465A>T
n.2757A>T
c.2584A>T (p.Lys862Ter)
c.1861A>T (p.Lys621Ter)
c.412A>T (p.Lys138Ter)
 dbSNP
2g.165344607A>CCA349013324SCN2Ac.2615A>C (p.Lys872Thr)
c.*934A>C (n.*934A>C)
c.*602A>C (n.*602A>C)
c.*3138A>C (n.*3138A>C)
c.*557A>C (n.*557A>C)
c.2219A>C (p.Lys740Thr)
c.53A>C (p.Lys18Thr)
c.466A>C
n.2758A>C
c.2585A>C (p.Lys862Thr)
c.1862A>C (p.Lys621Thr)
c.413A>C (p.Lys138Thr)
2g.165344607A>GCA349013326SCN2Ac.2615A>G (p.Lys872Arg)
c.*934A>G (n.*934A>G)
c.*602A>G (n.*602A>G)
c.*3138A>G (n.*3138A>G)
c.*557A>G (n.*557A>G)
c.2219A>G (p.Lys740Arg)
c.53A>G (p.Lys18Arg)
c.466A>G
n.2758A>G
c.2585A>G (p.Lys862Arg)
c.1862A>G (p.Lys621Arg)
c.413A>G (p.Lys138Arg)
2g.165344607A>TCA349013329SCN2Ac.2615A>T (p.Lys872Met)
c.*934A>T (n.*934A>T)
c.*602A>T (n.*602A>T)
c.*3138A>T (n.*3138A>T)
c.*557A>T (n.*557A>T)
c.2219A>T (p.Lys740Met)
c.53A>T (p.Lys18Met)
c.466A>T
n.2758A>T
c.2585A>T (p.Lys862Met)
c.1862A>T (p.Lys621Met)
c.413A>T (p.Lys138Met)
2g.165344608G>ACA429885367SCN2Ac.2616G>A (p.Lys872=)
c.*935G>A (n.*935G>A)
c.*603G>A (n.*603G>A)
c.*3139G>A (n.*3139G>A)
c.*558G>A (n.*558G>A)
c.2220G>A (p.Lys740=)
c.54G>A (p.Lys18=)
c.467G>A
n.2759G>A
c.2586G>A (p.Lys862=)
c.1863G>A (p.Lys621=)
c.414G>A (p.Lys138=)
 ClinVar dbSNP
2g.165344608G>CCA349013330SCN2Ac.2616G>C (p.Lys872Asn)
c.*935G>C (n.*935G>C)
c.*603G>C (n.*603G>C)
c.*3139G>C (n.*3139G>C)
c.*558G>C (n.*558G>C)
c.2220G>C (p.Lys740Asn)
c.54G>C (p.Lys18Asn)
c.467G>C
n.2759G>C
c.2586G>C (p.Lys862Asn)
c.1863G>C (p.Lys621Asn)
c.414G>C (p.Lys138Asn)
 COSMIC COSMIC
2g.165344608G=CA1304545458SCN2Ac.2616G= (p.Lys872=)
c.*935G= (n.*935G=)
c.*603G= (n.*603G=)
c.*3139G= (n.*3139G=)
c.*558G= (n.*558G=)
c.2220G= (p.Lys740=)
c.54G= (p.Lys18=)
c.467G=
n.2759G=
c.2586G= (p.Lys862=)
c.1863G= (p.Lys621=)
c.414G= (p.Lys138=)
2g.165344608G>TCA349013332SCN2Ac.2616G>T (p.Lys872Asn)
c.*935G>T (n.*935G>T)
c.*603G>T (n.*603G>T)
c.*3139G>T (n.*3139G>T)
c.*558G>T (n.*558G>T)
c.2220G>T (p.Lys740Asn)
c.54G>T (p.Lys18Asn)
c.467G>T
n.2759G>T
c.2586G>T (p.Lys862Asn)
c.1863G>T (p.Lys621Asn)
c.414G>T (p.Lys138Asn)
2g.165344609A>CCA349013335SCN2Ac.2617A>C (p.Ile873Leu)
c.*936A>C (n.*936A>C)
c.*604A>C (n.*604A>C)
c.*3140A>C (n.*3140A>C)
c.*559A>C (n.*559A>C)
c.2221A>C (p.Ile741Leu)
c.55A>C (p.Ile19Leu)
c.468A>C
n.2760A>C
c.2587A>C (p.Ile863Leu)
c.1864A>C (p.Ile622Leu)
c.415A>C (p.Ile139Leu)
 ClinVar
2g.165344609A>GCA349013336SCN2Ac.2617A>G (p.Ile873Val)
c.*936A>G (n.*936A>G)
c.*604A>G (n.*604A>G)
c.*3140A>G (n.*3140A>G)
c.*559A>G (n.*559A>G)
c.2221A>G (p.Ile741Val)
c.55A>G (p.Ile19Val)
c.468A>G
n.2760A>G
c.2587A>G (p.Ile863Val)
c.1864A>G (p.Ile622Val)
c.415A>G (p.Ile139Val)
2g.165344609A>TCA349013338SCN2Ac.2617A>T (p.Ile873Phe)
c.*936A>T (n.*936A>T)
c.*604A>T (n.*604A>T)
c.*3140A>T (n.*3140A>T)
c.*559A>T (n.*559A>T)
c.2221A>T (p.Ile741Phe)
c.55A>T (p.Ile19Phe)
c.468A>T
n.2760A>T
c.2587A>T (p.Ile863Phe)
c.1864A>T (p.Ile622Phe)
c.415A>T (p.Ile139Phe)
2g.165344610T>ACA349013340SCN2Ac.2618T>A (p.Ile873Asn)
c.*937T>A (n.*937T>A)
c.*605T>A (n.*605T>A)
c.*3141T>A (n.*3141T>A)
c.*560T>A (n.*560T>A)
c.2222T>A (p.Ile741Asn)
c.56T>A (p.Ile19Asn)
c.469T>A
n.2761T>A
c.2588T>A (p.Ile863Asn)
c.1865T>A (p.Ile622Asn)
c.416T>A (p.Ile139Asn)
2g.165344610T>CCA349013342SCN2Ac.2618T>C (p.Ile873Thr)
c.*937T>C (n.*937T>C)
c.*605T>C (n.*605T>C)
c.*3141T>C (n.*3141T>C)
c.*560T>C (n.*560T>C)
c.2222T>C (p.Ile741Thr)
c.56T>C (p.Ile19Thr)
c.469T>C
n.2761T>C
c.2588T>C (p.Ile863Thr)
c.1865T>C (p.Ile622Thr)
c.416T>C (p.Ile139Thr)
2g.165344610T>GCA349013344SCN2Ac.2618T>G (p.Ile873Ser)
c.*937T>G (n.*937T>G)
c.*605T>G (n.*605T>G)
c.*3141T>G (n.*3141T>G)
c.*560T>G (n.*560T>G)
c.2222T>G (p.Ile741Ser)
c.56T>G (p.Ile19Ser)
c.469T>G
n.2761T>G
c.2588T>G (p.Ile863Ser)
c.1865T>G (p.Ile622Ser)
c.416T>G (p.Ile139Ser)
2g.165344611C>ACA429885368SCN2Ac.2619C>A (p.Ile873=)
c.*938C>A (n.*938C>A)
c.*606C>A (n.*606C>A)
c.*3142C>A (n.*3142C>A)
c.*561C>A (n.*561C>A)
c.2223C>A (p.Ile741=)
c.57C>A (p.Ile19=)
c.470C>A
n.2762C>A
c.2589C>A (p.Ile863=)
c.1866C>A (p.Ile622=)
c.417C>A (p.Ile139=)
 ClinVar dbSNP
2g.165344611C=CA1304545459SCN2Ac.2619C= (p.Ile873=)
c.*938C= (n.*938C=)
c.*606C= (n.*606C=)
c.*3142C= (n.*3142C=)
c.*561C= (n.*561C=)
c.2223C= (p.Ile741=)
c.57C= (p.Ile19=)
c.470C=
n.2762C=
c.2589C= (p.Ile863=)
c.1866C= (p.Ile622=)
c.417C= (p.Ile139=)
2g.165344611C>GCA349013346SCN2Ac.2619C>G (p.Ile873Met)
c.*938C>G (n.*938C>G)
c.*606C>G (n.*606C>G)
c.*3142C>G (n.*3142C>G)
c.*561C>G (n.*561C>G)
c.2223C>G (p.Ile741Met)
c.57C>G (p.Ile19Met)
c.470C>G
n.2762C>G
c.2589C>G (p.Ile863Met)
c.1866C>G (p.Ile622Met)
c.417C>G (p.Ile139Met)
2g.165344611C>TCA59719963SCN2Ac.2619C>T (p.Ile873=)
c.*938C>T (n.*938C>T)
c.*606C>T (n.*606C>T)
c.*3142C>T (n.*3142C>T)
c.*561C>T (n.*561C>T)
c.2223C>T (p.Ile741=)
c.57C>T (p.Ile19=)
c.470C>T
n.2762C>T
c.2589C>T (p.Ile863=)
c.1866C>T (p.Ile622=)
c.417C>T (p.Ile139=)
 dbSNP COSMIC COSMIC
2g.165344612A=CA1304545461SCN2Ac.2620A= (p.Ile874=)
c.*939A= (n.*939A=)
c.*607A= (n.*607A=)
c.*3143A= (n.*3143A=)
c.*562A= (n.*562A=)
c.2224A= (p.Ile742=)
c.58A= (p.Ile20=)
c.471A=
n.2763A=
c.2590A= (p.Ile864=)
c.1867A= (p.Ile623=)
c.418A= (p.Ile140=)
2g.165344612A>CCA349013349SCN2Ac.2620A>C (p.Ile874Leu)
c.*939A>C (n.*939A>C)
c.*607A>C (n.*607A>C)
c.*3143A>C (n.*3143A>C)
c.*562A>C (n.*562A>C)
c.2224A>C (p.Ile742Leu)
c.58A>C (p.Ile20Leu)
c.471A>C
n.2763A>C
c.2590A>C (p.Ile864Leu)
c.1867A>C (p.Ile623Leu)
c.418A>C (p.Ile140Leu)
2g.165344612A>GCA349013354SCN2Ac.2620A>G (p.Ile874Val)
c.*939A>G (n.*939A>G)
c.*607A>G (n.*607A>G)
c.*3143A>G (n.*3143A>G)
c.*562A>G (n.*562A>G)
c.2224A>G (p.Ile742Val)
c.58A>G (p.Ile20Val)
c.471A>G
n.2763A>G
c.2590A>G (p.Ile864Val)
c.1867A>G (p.Ile623Val)
c.418A>G (p.Ile140Val)
 ClinVar dbSNP
2g.165344612A>TCA349013351SCN2Ac.2620A>T (p.Ile874Phe)
c.*939A>T (n.*939A>T)
c.*607A>T (n.*607A>T)
c.*3143A>T (n.*3143A>T)
c.*562A>T (n.*562A>T)
c.2224A>T (p.Ile742Phe)
c.58A>T (p.Ile20Phe)
c.471A>T
n.2763A>T
c.2590A>T (p.Ile864Phe)
c.1867A>T (p.Ile623Phe)
c.418A>T (p.Ile140Phe)
 gnomAD v3 gnomAD v4
2g.165344612_165344622delinsATTGGCAATTCCA1304545460SCN2Ac.2620_2630delinsATTGGCAATTC (p.Ile874=)
c.*939_*949delinsATTGGCAATTC (n.*939_*949delinsATTGGCAATTC)
c.*607_*617delinsATTGGCAATTC (n.*607_*617delinsATTGGCAATTC)
c.*3143_*3153delinsATTGGCAATTC (n.*3143_*3153delinsATTGGCAATTC)
c.*562_*572delinsATTGGCAATTC (n.*562_*572delinsATTGGCAATTC)
c.2224_2234delinsATTGGCAATTC (p.Ile742=)
c.58_68delinsATTGGCAATTC (p.Ile20=)
c.471_481delinsATTGGCAATTC
n.2763_2773delinsATTGGCAATTC
c.2590_2600delinsATTGGCAATTC (p.Ile864=)
c.1867_1877delinsATTGGCAATTC (p.Ile623=)
c.418_428delinsATTGGCAATTC (p.Ile140=)
2g.165344613T>ACA349013356SCN2Ac.2621T>A (p.Ile874Asn)
c.*940T>A (n.*940T>A)
c.*608T>A (n.*608T>A)
c.*3144T>A (n.*3144T>A)
c.*563T>A (n.*563T>A)
c.2225T>A (p.Ile742Asn)
c.59T>A (p.Ile20Asn)
c.472T>A
n.2764T>A
c.2591T>A (p.Ile864Asn)
c.1868T>A (p.Ile623Asn)
c.419T>A (p.Ile140Asn)
2g.165344613T>CCA349013358SCN2Ac.2621T>C (p.Ile874Thr)
c.*940T>C (n.*940T>C)
c.*608T>C (n.*608T>C)
c.*3144T>C (n.*3144T>C)
c.*563T>C (n.*563T>C)
c.2225T>C (p.Ile742Thr)
c.59T>C (p.Ile20Thr)
c.472T>C
n.2764T>C
c.2591T>C (p.Ile864Thr)
c.1868T>C (p.Ile623Thr)
c.419T>C (p.Ile140Thr)
 ClinVar dbSNP
2g.165344613T>GCA349013359SCN2Ac.2621T>G (p.Ile874Ser)
c.*940T>G (n.*940T>G)
c.*608T>G (n.*608T>G)
c.*3144T>G (n.*3144T>G)
c.*563T>G (n.*563T>G)
c.2225T>G (p.Ile742Ser)
c.59T>G (p.Ile20Ser)
c.472T>G
n.2764T>G
c.2591T>G (p.Ile864Ser)
c.1868T>G (p.Ile623Ser)
c.419T>G (p.Ile140Ser)
2g.165344613T=CA1304545462SCN2Ac.2621T= (p.Ile874=)
c.*940T= (n.*940T=)
c.*608T= (n.*608T=)
c.*3144T= (n.*3144T=)
c.*563T= (n.*563T=)
c.2225T= (p.Ile742=)
c.59T= (p.Ile20=)
c.472T=
n.2764T=
c.2591T= (p.Ile864=)
c.1868T= (p.Ile623=)
c.419T= (p.Ile140=)
2g.165344614_165344623delCA16617265SCN2Ac.2622_2631del (p.Ile874MetfsTer5)
c.*941_*950del (n.*941_*950del)
c.*609_*618del (n.*609_*618del)
c.*3145_*3154del (n.*3145_*3154del)
c.*564_*573del (n.*564_*573del)
c.2226_2235del (p.Ile742MetfsTer5)
c.60_69del (p.Ile20MetfsTer5)
c.473_482del
n.2765_2774del
c.2592_2601del (p.Ile864MetfsTer5)
c.1869_1878del (p.Ile623MetfsTer5)
c.420_429del (p.Ile140MetfsTer5)
 ClinVar dbSNP
2g.165344614T>ACA429885369SCN2Ac.2622T>A (p.Ile874=)
c.*941T>A (n.*941T>A)
c.*609T>A (n.*609T>A)
c.*3145T>A (n.*3145T>A)
c.*564T>A (n.*564T>A)
c.2226T>A (p.Ile742=)
c.60T>A (p.Ile20=)
c.473T>A
n.2765T>A
c.2592T>A (p.Ile864=)
c.1869T>A (p.Ile623=)
c.420T>A (p.Ile140=)
2g.165344614T>CCA429885370SCN2Ac.2622T>C (p.Ile874=)
c.*941T>C (n.*941T>C)
c.*609T>C (n.*609T>C)
c.*3145T>C (n.*3145T>C)
c.*564T>C (n.*564T>C)
c.2226T>C (p.Ile742=)
c.60T>C (p.Ile20=)
c.473T>C
n.2765T>C
c.2592T>C (p.Ile864=)
c.1869T>C (p.Ile623=)
c.420T>C (p.Ile140=)
2g.165344614T>GCA349013360SCN2Ac.2622T>G (p.Ile874Met)
c.*941T>G (n.*941T>G)
c.*609T>G (n.*609T>G)
c.*3145T>G (n.*3145T>G)
c.*564T>G (n.*564T>G)
c.2226T>G (p.Ile742Met)
c.60T>G (p.Ile20Met)
c.473T>G
n.2765T>G
c.2592T>G (p.Ile864Met)
c.1869T>G (p.Ile623Met)
c.420T>G (p.Ile140Met)
2g.165344615G>ACA349013364SCN2Ac.2623G>A (p.Gly875Ser)
c.*942G>A (n.*942G>A)
c.*610G>A (n.*610G>A)
c.*3146G>A (n.*3146G>A)
c.*565G>A (n.*565G>A)
c.2227G>A (p.Gly743Ser)
c.61G>A (p.Gly21Ser)
c.474G>A
n.2766G>A
c.2593G>A (p.Gly865Ser)
c.1870G>A (p.Gly624Ser)
c.421G>A (p.Gly141Ser)
2g.165344615G>CCA349013372SCN2Ac.2623G>C (p.Gly875Arg)
c.*942G>C (n.*942G>C)
c.*610G>C (n.*610G>C)
c.*3146G>C (n.*3146G>C)
c.*565G>C (n.*565G>C)
c.2227G>C (p.Gly743Arg)
c.61G>C (p.Gly21Arg)
c.474G>C
n.2766G>C
c.2593G>C (p.Gly865Arg)
c.1870G>C (p.Gly624Arg)
c.421G>C (p.Gly141Arg)
2g.165344615G>TCA349013367SCN2Ac.2623G>T (p.Gly875Cys)
c.*942G>T (n.*942G>T)
c.*610G>T (n.*610G>T)
c.*3146G>T (n.*3146G>T)
c.*565G>T (n.*565G>T)
c.2227G>T (p.Gly743Cys)
c.61G>T (p.Gly21Cys)
c.474G>T
n.2766G>T
c.2593G>T (p.Gly865Cys)
c.1870G>T (p.Gly624Cys)
c.421G>T (p.Gly141Cys)
2g.165344616G>ACA349013373SCN2Ac.2624G>A (p.Gly875Asp)
c.*943G>A (n.*943G>A)
c.*611G>A (n.*611G>A)
c.*3147G>A (n.*3147G>A)
c.*566G>A (n.*566G>A)
c.2228G>A (p.Gly743Asp)
c.62G>A (p.Gly21Asp)
c.475G>A
n.2767G>A
c.2594G>A (p.Gly865Asp)
c.1871G>A (p.Gly624Asp)
c.422G>A (p.Gly141Asp)
 gnomAD v4
2g.165344616G>CCA349013374SCN2Ac.2624G>C (p.Gly875Ala)
c.*943G>C (n.*943G>C)
c.*611G>C (n.*611G>C)
c.*3147G>C (n.*3147G>C)
c.*566G>C (n.*566G>C)
c.2228G>C (p.Gly743Ala)
c.62G>C (p.Gly21Ala)
c.475G>C
n.2767G>C
c.2594G>C (p.Gly865Ala)
c.1871G>C (p.Gly624Ala)
c.422G>C (p.Gly141Ala)
2g.165344616G>TCA349013377SCN2Ac.2624G>T (p.Gly875Val)
c.*943G>T (n.*943G>T)
c.*611G>T (n.*611G>T)
c.*3147G>T (n.*3147G>T)
c.*566G>T (n.*566G>T)
c.2228G>T (p.Gly743Val)
c.62G>T (p.Gly21Val)
c.475G>T
n.2767G>T
c.2594G>T (p.Gly865Val)
c.1871G>T (p.Gly624Val)
c.422G>T (p.Gly141Val)
2g.165344617C>ACA429885372SCN2Ac.2625C>A (p.Gly875=)
c.*944C>A (n.*944C>A)
c.*612C>A (n.*612C>A)
c.*3148C>A (n.*3148C>A)
c.*567C>A (n.*567C>A)
c.2229C>A (p.Gly743=)
c.63C>A (p.Gly21=)
c.476C>A
n.2768C>A
c.2595C>A (p.Gly865=)
c.1872C>A (p.Gly624=)
c.423C>A (p.Gly141=)
2g.165344617C=CA1304545463SCN2Ac.2625C= (p.Gly875=)
c.*944C= (n.*944C=)
c.*612C= (n.*612C=)
c.*3148C= (n.*3148C=)
c.*567C= (n.*567C=)
c.2229C= (p.Gly743=)
c.63C= (p.Gly21=)
c.476C=
n.2768C=
c.2595C= (p.Gly865=)
c.1872C= (p.Gly624=)
c.423C= (p.Gly141=)
2g.165344617C>GCA429885371SCN2Ac.2625C>G (p.Gly875=)
c.*944C>G (n.*944C>G)
c.*612C>G (n.*612C>G)
c.*3148C>G (n.*3148C>G)
c.*567C>G (n.*567C>G)
c.2229C>G (p.Gly743=)
c.63C>G (p.Gly21=)
c.476C>G
n.2768C>G
c.2595C>G (p.Gly865=)
c.1872C>G (p.Gly624=)
c.423C>G (p.Gly141=)
2g.165344617C>TCA1940010SCN2Ac.2625C>T (p.Gly875=)
c.*944C>T (n.*944C>T)
c.*612C>T (n.*612C>T)
c.*3148C>T (n.*3148C>T)
c.*567C>T (n.*567C>T)
c.2229C>T (p.Gly743=)
c.63C>T (p.Gly21=)
c.476C>T
n.2768C>T
c.2595C>T (p.Gly865=)
c.1872C>T (p.Gly624=)
c.423C>T (p.Gly141=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165344618A>CCA349013382SCN2Ac.2626A>C (p.Asn876His)
c.*945A>C (n.*945A>C)
c.*613A>C (n.*613A>C)
c.*3149A>C (n.*3149A>C)
c.*568A>C (n.*568A>C)
c.2230A>C (p.Asn744His)
c.64A>C (p.Asn22His)
c.477A>C
n.2769A>C
c.2596A>C (p.Asn866His)
c.1873A>C (p.Asn625His)
c.424A>C (p.Asn142His)
2g.165344618A>GCA349013384SCN2Ac.2626A>G (p.Asn876Asp)
c.*945A>G (n.*945A>G)
c.*613A>G (n.*613A>G)
c.*3149A>G (n.*3149A>G)
c.*568A>G (n.*568A>G)
c.2230A>G (p.Asn744Asp)
c.64A>G (p.Asn22Asp)
c.477A>G
n.2769A>G
c.2596A>G (p.Asn866Asp)
c.1873A>G (p.Asn625Asp)
c.424A>G (p.Asn142Asp)
2g.165344618A>TCA349013386SCN2Ac.2626A>T (p.Asn876Tyr)
c.*945A>T (n.*945A>T)
c.*613A>T (n.*613A>T)
c.*3149A>T (n.*3149A>T)
c.*568A>T (n.*568A>T)
c.2230A>T (p.Asn744Tyr)
c.64A>T (p.Asn22Tyr)
c.477A>T
n.2769A>T
c.2596A>T (p.Asn866Tyr)
c.1873A>T (p.Asn625Tyr)
c.424A>T (p.Asn142Tyr)
 ClinVar
2g.165344619A=CA1304545464SCN2Ac.2627A= (p.Asn876=)
c.*946A= (n.*946A=)
c.*614A= (n.*614A=)
c.*3150A= (n.*3150A=)
c.*569A= (n.*569A=)
c.2231A= (p.Asn744=)
c.65A= (p.Asn22=)
c.478A=
n.2770A=
c.2597A= (p.Asn866=)
c.1874A= (p.Asn625=)
c.425A= (p.Asn142=)
2g.165344619A>CCA349013388SCN2Ac.2627A>C (p.Asn876Thr)
c.*946A>C (n.*946A>C)
c.*614A>C (n.*614A>C)
c.*3150A>C (n.*3150A>C)
c.*569A>C (n.*569A>C)
c.2231A>C (p.Asn744Thr)
c.65A>C (p.Asn22Thr)
c.478A>C
n.2770A>C
c.2597A>C (p.Asn866Thr)
c.1874A>C (p.Asn625Thr)
c.425A>C (p.Asn142Thr)
2g.165344619A>GCA349013390SCN2Ac.2627A>G (p.Asn876Ser)
c.*946A>G (n.*946A>G)
c.*614A>G (n.*614A>G)
c.*3150A>G (n.*3150A>G)
c.*569A>G (n.*569A>G)
c.2231A>G (p.Asn744Ser)
c.65A>G (p.Asn22Ser)
c.478A>G
n.2770A>G
c.2597A>G (p.Asn866Ser)
c.1874A>G (p.Asn625Ser)
c.425A>G (p.Asn142Ser)
 ClinVar dbSNP
2g.165344619A>TCA349013392SCN2Ac.2627A>T (p.Asn876Ile)
c.*946A>T (n.*946A>T)
c.*614A>T (n.*614A>T)
c.*3150A>T (n.*3150A>T)
c.*569A>T (n.*569A>T)
c.2231A>T (p.Asn744Ile)
c.65A>T (p.Asn22Ile)
c.478A>T
n.2770A>T
c.2597A>T (p.Asn866Ile)
c.1874A>T (p.Asn625Ile)
c.425A>T (p.Asn142Ile)
2g.165344620T>ACA349013394SCN2Ac.2628T>A (p.Asn876Lys)
c.*947T>A (n.*947T>A)
c.*615T>A (n.*615T>A)
c.*3151T>A (n.*3151T>A)
c.*570T>A (n.*570T>A)
c.2232T>A (p.Asn744Lys)
c.66T>A (p.Asn22Lys)
c.479T>A
n.2771T>A
c.2598T>A (p.Asn866Lys)
c.1875T>A (p.Asn625Lys)
c.426T>A (p.Asn142Lys)
2g.165344620T>CCA429885373SCN2Ac.2628T>C (p.Asn876=)
c.*947T>C (n.*947T>C)
c.*615T>C (n.*615T>C)
c.*3151T>C (n.*3151T>C)
c.*570T>C (n.*570T>C)
c.2232T>C (p.Asn744=)
c.66T>C (p.Asn22=)
c.479T>C
n.2771T>C
c.2598T>C (p.Asn866=)
c.1875T>C (p.Asn625=)
c.426T>C (p.Asn142=)
2g.165344620T>GCA349013399SCN2Ac.2628T>G (p.Asn876Lys)
c.*947T>G (n.*947T>G)
c.*615T>G (n.*615T>G)
c.*3151T>G (n.*3151T>G)
c.*570T>G (n.*570T>G)
c.2232T>G (p.Asn744Lys)
c.66T>G (p.Asn22Lys)
c.479T>G
n.2771T>G
c.2598T>G (p.Asn866Lys)
c.1875T>G (p.Asn625Lys)
c.426T>G (p.Asn142Lys)
2g.165344621T>ACA349013400SCN2Ac.2629T>A (p.Ser877Thr)
c.*948T>A (n.*948T>A)
c.*616T>A (n.*616T>A)
c.*3152T>A (n.*3152T>A)
c.*571T>A (n.*571T>A)
c.2233T>A (p.Ser745Thr)
c.67T>A (p.Ser23Thr)
c.480T>A
n.2772T>A
c.2599T>A (p.Ser867Thr)
c.1876T>A (p.Ser626Thr)
c.427T>A (p.Ser143Thr)
2g.165344621T>CCA349013404SCN2Ac.2629T>C (p.Ser877Pro)
c.*948T>C (n.*948T>C)
c.*616T>C (n.*616T>C)
c.*3152T>C (n.*3152T>C)
c.*571T>C (n.*571T>C)
c.2233T>C (p.Ser745Pro)
c.67T>C (p.Ser23Pro)
c.480T>C
n.2772T>C
c.2599T>C (p.Ser867Pro)
c.1876T>C (p.Ser626Pro)
c.427T>C (p.Ser143Pro)
2g.165344621T>GCA349013402SCN2Ac.2629T>G (p.Ser877Ala)
c.*948T>G (n.*948T>G)
c.*616T>G (n.*616T>G)
c.*3152T>G (n.*3152T>G)
c.*571T>G (n.*571T>G)
c.2233T>G (p.Ser745Ala)
c.67T>G (p.Ser23Ala)
c.480T>G
n.2772T>G
c.2599T>G (p.Ser867Ala)
c.1876T>G (p.Ser626Ala)
c.427T>G (p.Ser143Ala)
2g.165344622C>ACA349013406SCN2Ac.2630C>A (p.Ser877Tyr)
c.*949C>A (n.*949C>A)
c.*617C>A (n.*617C>A)
c.*3153C>A (n.*3153C>A)
c.*572C>A (n.*572C>A)
c.2234C>A (p.Ser745Tyr)
c.68C>A (p.Ser23Tyr)
c.481C>A
n.2773C>A
c.2600C>A (p.Ser867Tyr)
c.1877C>A (p.Ser626Tyr)
c.428C>A (p.Ser143Tyr)
2g.165344622C>GCA349013408SCN2Ac.2630C>G (p.Ser877Cys)
c.*949C>G (n.*949C>G)
c.*617C>G (n.*617C>G)
c.*3153C>G (n.*3153C>G)
c.*572C>G (n.*572C>G)
c.2234C>G (p.Ser745Cys)
c.68C>G (p.Ser23Cys)
c.481C>G
n.2773C>G
c.2600C>G (p.Ser867Cys)
c.1877C>G (p.Ser626Cys)
c.428C>G (p.Ser143Cys)
2g.165344622C>TCA349013409SCN2Ac.2630C>T (p.Ser877Phe)
c.*949C>T (n.*949C>T)
c.*617C>T (n.*617C>T)
c.*3153C>T (n.*3153C>T)
c.*572C>T (n.*572C>T)
c.2234C>T (p.Ser745Phe)
c.68C>T (p.Ser23Phe)
c.481C>T
n.2773C>T
c.2600C>T (p.Ser867Phe)
c.1877C>T (p.Ser626Phe)
c.428C>T (p.Ser143Phe)
2g.165344623T>ACA429885374SCN2Ac.2631T>A (p.Ser877=)
c.*950T>A (n.*950T>A)
c.*618T>A (n.*618T>A)
c.*3154T>A (n.*3154T>A)
c.*573T>A (n.*573T>A)
c.2235T>A (p.Ser745=)
c.69T>A (p.Ser23=)
c.482T>A
n.2774T>A
c.2601T>A (p.Ser867=)
c.1878T>A (p.Ser626=)
c.429T>A (p.Ser143=)
2g.165344623T>CCA429885375SCN2Ac.2631T>C (p.Ser877=)
c.*950T>C (n.*950T>C)
c.*618T>C (n.*618T>C)
c.*3154T>C (n.*3154T>C)
c.*573T>C (n.*573T>C)
c.2235T>C (p.Ser745=)
c.69T>C (p.Ser23=)
c.482T>C
n.2774T>C
c.2601T>C (p.Ser867=)
c.1878T>C (p.Ser626=)
c.429T>C (p.Ser143=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165344623T>GCA429885376SCN2Ac.2631T>G (p.Ser877=)
c.*950T>G (n.*950T>G)
c.*618T>G (n.*618T>G)
c.*3154T>G (n.*3154T>G)
c.*573T>G (n.*573T>G)
c.2235T>G (p.Ser745=)
c.69T>G (p.Ser23=)
c.482T>G
n.2774T>G
c.2601T>G (p.Ser867=)
c.1878T>G (p.Ser626=)
c.429T>G (p.Ser143=)
2g.165344623T=CA1304545465SCN2Ac.2631T= (p.Ser877=)
c.*950T= (n.*950T=)
c.*618T= (n.*618T=)
c.*3154T= (n.*3154T=)
c.*573T= (n.*573T=)
c.2235T= (p.Ser745=)
c.69T= (p.Ser23=)
c.482T=
n.2774T=
c.2601T= (p.Ser867=)
c.1878T= (p.Ser626=)
c.429T= (p.Ser143=)
2g.165344624G>ACA349013412SCN2Ac.2632G>A (p.Val878Met)
c.*951G>A (n.*951G>A)
c.*619G>A (n.*619G>A)
c.*3155G>A (n.*3155G>A)
c.*574G>A (n.*574G>A)
c.2236G>A (p.Val746Met)
c.70G>A (p.Val24Met)
c.483G>A
n.2775G>A
c.2602G>A (p.Val868Met)
c.1879G>A (p.Val627Met)
c.430G>A (p.Val144Met)
 dbSNP
2g.165344624G>CCA349013414SCN2Ac.2632G>C (p.Val878Leu)
c.*951G>C (n.*951G>C)
c.*619G>C (n.*619G>C)
c.*3155G>C (n.*3155G>C)
c.*574G>C (n.*574G>C)
c.2236G>C (p.Val746Leu)
c.70G>C (p.Val24Leu)
c.483G>C
n.2775G>C
c.2602G>C (p.Val868Leu)
c.1879G>C (p.Val627Leu)
c.430G>C (p.Val144Leu)
2g.165344624G=CA1304545466SCN2Ac.2632G= (p.Val878=)
c.*951G= (n.*951G=)
c.*619G= (n.*619G=)
c.*3155G= (n.*3155G=)
c.*574G= (n.*574G=)
c.2236G= (p.Val746=)
c.70G= (p.Val24=)
c.483G=
n.2775G=
c.2602G= (p.Val868=)
c.1879G= (p.Val627=)
c.430G= (p.Val144=)
2g.165344624G>TCA349013416SCN2Ac.2632G>T (p.Val878Leu)
c.*951G>T (n.*951G>T)
c.*619G>T (n.*619G>T)
c.*3155G>T (n.*3155G>T)
c.*574G>T (n.*574G>T)
c.2236G>T (p.Val746Leu)
c.70G>T (p.Val24Leu)
c.483G>T
n.2775G>T
c.2602G>T (p.Val868Leu)
c.1879G>T (p.Val627Leu)
c.430G>T (p.Val144Leu)
2g.165344625T>ACA349013418SCN2Ac.2633T>A (p.Val878Glu)
c.*952T>A (n.*952T>A)
c.*620T>A (n.*620T>A)
c.*3156T>A (n.*3156T>A)
c.*575T>A (n.*575T>A)
c.2237T>A (p.Val746Glu)
c.71T>A (p.Val24Glu)
c.484T>A
n.2776T>A
c.2603T>A (p.Val868Glu)
c.1880T>A (p.Val627Glu)
c.431T>A (p.Val144Glu)
2g.165344625T>CCA349013419SCN2Ac.2633T>C (p.Val878Ala)
c.*952T>C (n.*952T>C)
c.*620T>C (n.*620T>C)
c.*3156T>C (n.*3156T>C)
c.*575T>C (n.*575T>C)
c.2237T>C (p.Val746Ala)
c.71T>C (p.Val24Ala)
c.484T>C
n.2776T>C
c.2603T>C (p.Val868Ala)
c.1880T>C (p.Val627Ala)
c.431T>C (p.Val144Ala)
2g.165344625T>GCA349013420SCN2Ac.2633T>G (p.Val878Gly)
c.*952T>G (n.*952T>G)
c.*620T>G (n.*620T>G)
c.*3156T>G (n.*3156T>G)
c.*575T>G (n.*575T>G)
c.2237T>G (p.Val746Gly)
c.71T>G (p.Val24Gly)
c.484T>G
n.2776T>G
c.2603T>G (p.Val868Gly)
c.1880T>G (p.Val627Gly)
c.431T>G (p.Val144Gly)
2g.165344626G>ACA429885377SCN2Ac.2634G>A (p.Val878=)
c.*953G>A (n.*953G>A)
c.*621G>A (n.*621G>A)
c.*3157G>A (n.*3157G>A)
c.*576G>A (n.*576G>A)
c.2238G>A (p.Val746=)
c.72G>A (p.Val24=)
c.485G>A
n.2777G>A
c.2604G>A (p.Val868=)
c.1881G>A (p.Val627=)
c.432G>A (p.Val144=)
2g.165344626G>CCA429885378SCN2Ac.2634G>C (p.Val878=)
c.*953G>C (n.*953G>C)
c.*621G>C (n.*621G>C)
c.*3157G>C (n.*3157G>C)
c.*576G>C (n.*576G>C)
c.2238G>C (p.Val746=)
c.72G>C (p.Val24=)
c.485G>C
n.2777G>C
c.2604G>C (p.Val868=)
c.1881G>C (p.Val627=)
c.432G>C (p.Val144=)
2g.165344626G>TCA429885379SCN2Ac.2634G>T (p.Val878=)
c.*953G>T (n.*953G>T)
c.*621G>T (n.*621G>T)
c.*3157G>T (n.*3157G>T)
c.*576G>T (n.*576G>T)
c.2238G>T (p.Val746=)
c.72G>T (p.Val24=)
c.485G>T
n.2777G>T
c.2604G>T (p.Val868=)
c.1881G>T (p.Val627=)
c.432G>T (p.Val144=)
2g.165344626_165344627delinsTCCA2580064222SCN2Ac.2634_2635delinsTC (p.Gly879Arg)
c.*953_*954delinsTC (n.*953_*954delinsTC)
c.*621_*622delinsTC (n.*621_*622delinsTC)
c.*3157_*3158delinsTC (n.*3157_*3158delinsTC)
c.*576_*577delinsTC (n.*576_*577delinsTC)
c.2238_2239delinsTC (p.Gly747Arg)
c.72_73delinsTC (p.Gly25Arg)
c.485_486delinsTC
n.2777_2778delinsTC
c.2604_2605delinsTC (p.Gly869Arg)
c.1881_1882delinsTC (p.Gly628Arg)
c.432_433delinsTC (p.Gly145Arg)
 ClinVar
2g.165344627G>ACA317877SCN2Ac.2635G>A (p.Gly879Arg)
c.*954G>A (n.*954G>A)
c.*622G>A (n.*622G>A)
c.*3158G>A (n.*3158G>A)
c.*577G>A (n.*577G>A)
c.2239G>A (p.Gly747Arg)
c.73G>A (p.Gly25Arg)
c.486G>A
n.2778G>A
c.2605G>A (p.Gly869Arg)
c.1882G>A (p.Gly628Arg)
c.433G>A (p.Gly145Arg)
 ClinVar dbSNP
2g.165344627G>CCA349013421SCN2Ac.2635G>C (p.Gly879Arg)
c.*954G>C (n.*954G>C)
c.*622G>C (n.*622G>C)
c.*3158G>C (n.*3158G>C)
c.*577G>C (n.*577G>C)
c.2239G>C (p.Gly747Arg)
c.73G>C (p.Gly25Arg)
c.486G>C
n.2778G>C
c.2605G>C (p.Gly869Arg)
c.1882G>C (p.Gly628Arg)
c.433G>C (p.Gly145Arg)
2g.165344627G=CA1304545467SCN2Ac.2635G= (p.Gly879=)
c.*954G= (n.*954G=)
c.*622G= (n.*622G=)
c.*3158G= (n.*3158G=)
c.*577G= (n.*577G=)
c.2239G= (p.Gly747=)
c.73G= (p.Gly25=)
c.486G=
n.2778G=
c.2605G= (p.Gly869=)
c.1882G= (p.Gly628=)
c.433G= (p.Gly145=)
2g.165344627G>TCA349013422SCN2Ac.2635G>T (p.Gly879Trp)
c.*954G>T (n.*954G>T)
c.*622G>T (n.*622G>T)
c.*3158G>T (n.*3158G>T)
c.*577G>T (n.*577G>T)
c.2239G>T (p.Gly747Trp)
c.73G>T (p.Gly25Trp)
c.486G>T
n.2778G>T
c.2605G>T (p.Gly869Trp)
c.1882G>T (p.Gly628Trp)
c.433G>T (p.Gly145Trp)

Number of alleles fetched