Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165344761G>ACA349015412SCN2Ac.2769G>A (p.Trp923Ter)
c.*1088G>A (n.*1088G>A)
c.*756G>A (n.*756G>A)
c.*3292G>A (n.*3292G>A)
c.*711G>A (n.*711G>A)
c.2373G>A (p.Trp791Ter)
c.207G>A (p.Trp69Ter)
c.620G>A
n.2912G>A
c.2739G>A (p.Trp913Ter)
c.2016G>A (p.Trp672Ter)
c.567G>A (p.Trp189Ter)
 dbSNP
2g.165344761G>CCA349015414SCN2Ac.2769G>C (p.Trp923Cys)
c.*1088G>C (n.*1088G>C)
c.*756G>C (n.*756G>C)
c.*3292G>C (n.*3292G>C)
c.*711G>C (n.*711G>C)
c.2373G>C (p.Trp791Cys)
c.207G>C (p.Trp69Cys)
c.620G>C
n.2912G>C
c.2739G>C (p.Trp913Cys)
c.2016G>C (p.Trp672Cys)
c.567G>C (p.Trp189Cys)
2g.165344761G=CA1304545524SCN2Ac.2769G= (p.Trp923=)
c.*1088G= (n.*1088G=)
c.*756G= (n.*756G=)
c.*3292G= (n.*3292G=)
c.*711G= (n.*711G=)
c.2373G= (p.Trp791=)
c.207G= (p.Trp69=)
c.620G=
n.2912G=
c.2739G= (p.Trp913=)
c.2016G= (p.Trp672=)
c.567G= (p.Trp189=)
2g.165344761G>TCA349015418SCN2Ac.2769G>T (p.Trp923Cys)
c.*1088G>T (n.*1088G>T)
c.*756G>T (n.*756G>T)
c.*3292G>T (n.*3292G>T)
c.*711G>T (n.*711G>T)
c.2373G>T (p.Trp791Cys)
c.207G>T (p.Trp69Cys)
c.620G>T
n.2912G>T
c.2739G>T (p.Trp913Cys)
c.2016G>T (p.Trp672Cys)
c.567G>T (p.Trp189Cys)
2g.165344762C>ACA349015424SCN2Ac.2770C>A (p.His924Asn)
c.*1089C>A (n.*1089C>A)
c.*757C>A (n.*757C>A)
c.*3293C>A (n.*3293C>A)
c.*712C>A (n.*712C>A)
c.2374C>A (p.His792Asn)
c.208C>A (p.His70Asn)
c.621C>A
n.2913C>A
c.2740C>A (p.His914Asn)
c.2017C>A (p.His673Asn)
c.568C>A (p.His190Asn)
 gnomAD v4
2g.165344762C>GCA349015431SCN2Ac.2770C>G (p.His924Asp)
c.*1089C>G (n.*1089C>G)
c.*757C>G (n.*757C>G)
c.*3293C>G (n.*3293C>G)
c.*712C>G (n.*712C>G)
c.2374C>G (p.His792Asp)
c.208C>G (p.His70Asp)
c.621C>G
n.2913C>G
c.2740C>G (p.His914Asp)
c.2017C>G (p.His673Asp)
c.568C>G (p.His190Asp)
2g.165344762C>TCA349015427SCN2Ac.2770C>T (p.His924Tyr)
c.*1089C>T (n.*1089C>T)
c.*757C>T (n.*757C>T)
c.*3293C>T (n.*3293C>T)
c.*712C>T (n.*712C>T)
c.2374C>T (p.His792Tyr)
c.208C>T (p.His70Tyr)
c.621C>T
n.2913C>T
c.2740C>T (p.His914Tyr)
c.2017C>T (p.His673Tyr)
c.568C>T (p.His190Tyr)
2g.165344763A>CCA349015435SCN2Ac.2771A>C (p.His924Pro)
c.*1090A>C (n.*1090A>C)
c.*758A>C (n.*758A>C)
c.*3294A>C (n.*3294A>C)
c.*713A>C (n.*713A>C)
c.2375A>C (p.His792Pro)
c.209A>C (p.His70Pro)
c.622A>C
n.2914A>C
c.2741A>C (p.His914Pro)
c.2018A>C (p.His673Pro)
c.569A>C (p.His190Pro)
2g.165344763A>GCA349015439SCN2Ac.2771A>G (p.His924Arg)
c.*1090A>G (n.*1090A>G)
c.*758A>G (n.*758A>G)
c.*3294A>G (n.*3294A>G)
c.*713A>G (n.*713A>G)
c.2375A>G (p.His792Arg)
c.209A>G (p.His70Arg)
c.622A>G
n.2914A>G
c.2741A>G (p.His914Arg)
c.2018A>G (p.His673Arg)
c.569A>G (p.His190Arg)
2g.165344763A>TCA349015440SCN2Ac.2771A>T (p.His924Leu)
c.*1090A>T (n.*1090A>T)
c.*758A>T (n.*758A>T)
c.*3294A>T (n.*3294A>T)
c.*713A>T (n.*713A>T)
c.2375A>T (p.His792Leu)
c.209A>T (p.His70Leu)
c.622A>T
n.2914A>T
c.2741A>T (p.His914Leu)
c.2018A>T (p.His673Leu)
c.569A>T (p.His190Leu)
2g.165344764C>ACA349015444SCN2Ac.2772C>A (p.His924Gln)
c.*1091C>A (n.*1091C>A)
c.*759C>A (n.*759C>A)
c.*3295C>A (n.*3295C>A)
c.*714C>A (n.*714C>A)
c.2376C>A (p.His792Gln)
c.210C>A (p.His70Gln)
c.623C>A
n.2915C>A
c.2742C>A (p.His914Gln)
c.2019C>A (p.His673Gln)
c.570C>A (p.His190Gln)
2g.165344764C>GCA349015446SCN2Ac.2772C>G (p.His924Gln)
c.*1091C>G (n.*1091C>G)
c.*759C>G (n.*759C>G)
c.*3295C>G (n.*3295C>G)
c.*714C>G (n.*714C>G)
c.2376C>G (p.His792Gln)
c.210C>G (p.His70Gln)
c.623C>G
n.2915C>G
c.2742C>G (p.His914Gln)
c.2019C>G (p.His673Gln)
c.570C>G (p.His190Gln)
2g.165344764C>TCA429972394SCN2Ac.2772C>T (p.His924=)
c.*1091C>T (n.*1091C>T)
c.*759C>T (n.*759C>T)
c.*3295C>T (n.*3295C>T)
c.*714C>T (n.*714C>T)
c.2376C>T (p.His792=)
c.210C>T (p.His70=)
c.623C>T
n.2915C>T
c.2742C>T (p.His914=)
c.2019C>T (p.His673=)
c.570C>T (p.His190=)
 gnomAD v4
2g.165344765A>CCA349015450SCN2Ac.2773A>C (p.Met925Leu)
c.*1092A>C (n.*1092A>C)
c.*760A>C (n.*760A>C)
c.*3296A>C (n.*3296A>C)
c.*715A>C (n.*715A>C)
c.2377A>C (p.Met793Leu)
c.211A>C (p.Met71Leu)
c.624A>C
n.2916A>C
c.2743A>C (p.Met915Leu)
c.2020A>C (p.Met674Leu)
c.571A>C (p.Met191Leu)
2g.165344765A>GCA349015451SCN2Ac.2773A>G (p.Met925Val)
c.*1092A>G (n.*1092A>G)
c.*760A>G (n.*760A>G)
c.*3296A>G (n.*3296A>G)
c.*715A>G (n.*715A>G)
c.2377A>G (p.Met793Val)
c.211A>G (p.Met71Val)
c.624A>G
n.2916A>G
c.2743A>G (p.Met915Val)
c.2020A>G (p.Met674Val)
c.571A>G (p.Met191Val)
2g.165344765A>TCA349015452SCN2Ac.2773A>T (p.Met925Leu)
c.*1092A>T (n.*1092A>T)
c.*760A>T (n.*760A>T)
c.*3296A>T (n.*3296A>T)
c.*715A>T (n.*715A>T)
c.2377A>T (p.Met793Leu)
c.211A>T (p.Met71Leu)
c.624A>T
n.2916A>T
c.2743A>T (p.Met915Leu)
c.2020A>T (p.Met674Leu)
c.571A>T (p.Met191Leu)
2g.165344766T>ACA349015453SCN2Ac.2774T>A (p.Met925Lys)
c.*1093T>A (n.*1093T>A)
c.*761T>A (n.*761T>A)
c.*3297T>A (n.*3297T>A)
c.*716T>A (n.*716T>A)
c.2378T>A (p.Met793Lys)
c.212T>A (p.Met71Lys)
c.625T>A
n.2917T>A
c.2744T>A (p.Met915Lys)
c.2021T>A (p.Met674Lys)
c.572T>A (p.Met191Lys)
2g.165344766T>CCA16042355SCN2Ac.2774T>C (p.Met925Thr)
c.*1093T>C (n.*1093T>C)
c.*761T>C (n.*761T>C)
c.*3297T>C (n.*3297T>C)
c.*716T>C (n.*716T>C)
c.2378T>C (p.Met793Thr)
c.212T>C (p.Met71Thr)
c.625T>C
n.2917T>C
c.2744T>C (p.Met915Thr)
c.2021T>C (p.Met674Thr)
c.572T>C (p.Met191Thr)
 ClinVar dbSNP
2g.165344766T>GCA349015454SCN2Ac.2774T>G (p.Met925Arg)
c.*1093T>G (n.*1093T>G)
c.*761T>G (n.*761T>G)
c.*3297T>G (n.*3297T>G)
c.*716T>G (n.*716T>G)
c.2378T>G (p.Met793Arg)
c.212T>G (p.Met71Arg)
c.625T>G
n.2917T>G
c.2744T>G (p.Met915Arg)
c.2021T>G (p.Met674Arg)
c.572T>G (p.Met191Arg)
2g.165344766T=CA1304545525SCN2Ac.2774T= (p.Met925=)
c.*1093T= (n.*1093T=)
c.*761T= (n.*761T=)
c.*3297T= (n.*3297T=)
c.*716T= (n.*716T=)
c.2378T= (p.Met793=)
c.212T= (p.Met71=)
c.625T=
n.2917T=
c.2744T= (p.Met915=)
c.2021T= (p.Met674=)
c.572T= (p.Met191=)
2g.165344767G>ACA349015463SCN2Ac.2775G>A (p.Met925Ile)
c.*1094G>A (n.*1094G>A)
c.*762G>A (n.*762G>A)
c.*3298G>A (n.*3298G>A)
c.*717G>A (n.*717G>A)
c.2379G>A (p.Met793Ile)
c.213G>A (p.Met71Ile)
c.626G>A
n.2918G>A
c.2745G>A (p.Met915Ile)
c.2022G>A (p.Met674Ile)
c.573G>A (p.Met191Ile)
2g.165344767G>CCA349015465SCN2Ac.2775G>C (p.Met925Ile)
c.*1094G>C (n.*1094G>C)
c.*762G>C (n.*762G>C)
c.*3298G>C (n.*3298G>C)
c.*717G>C (n.*717G>C)
c.2379G>C (p.Met793Ile)
c.213G>C (p.Met71Ile)
c.626G>C
n.2918G>C
c.2745G>C (p.Met915Ile)
c.2022G>C (p.Met674Ile)
c.573G>C (p.Met191Ile)
2g.165344767G>TCA349015459SCN2Ac.2775G>T (p.Met925Ile)
c.*1094G>T (n.*1094G>T)
c.*762G>T (n.*762G>T)
c.*3298G>T (n.*3298G>T)
c.*717G>T (n.*717G>T)
c.2379G>T (p.Met793Ile)
c.213G>T (p.Met71Ile)
c.626G>T
n.2918G>T
c.2745G>T (p.Met915Ile)
c.2022G>T (p.Met674Ile)
c.573G>T (p.Met191Ile)
2g.165344768C>ACA1940020SCN2Ac.2776C>A (p.His926Asn)
c.*1095C>A (n.*1095C>A)
c.*763C>A (n.*763C>A)
c.*3299C>A (n.*3299C>A)
c.*718C>A (n.*718C>A)
c.2380C>A (p.His794Asn)
c.214C>A (p.His72Asn)
c.627C>A
n.2919C>A
c.2746C>A (p.His916Asn)
c.2023C>A (p.His675Asn)
c.574C>A (p.His192Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165344768C=CA1304545526SCN2Ac.2776C= (p.His926=)
c.*1095C= (n.*1095C=)
c.*763C= (n.*763C=)
c.*3299C= (n.*3299C=)
c.*718C= (n.*718C=)
c.2380C= (p.His794=)
c.214C= (p.His72=)
c.627C=
n.2919C=
c.2746C= (p.His916=)
c.2023C= (p.His675=)
c.574C= (p.His192=)
2g.165344768C>GCA349015468SCN2Ac.2776C>G (p.His926Asp)
c.*1095C>G (n.*1095C>G)
c.*763C>G (n.*763C>G)
c.*3299C>G (n.*3299C>G)
c.*718C>G (n.*718C>G)
c.2380C>G (p.His794Asp)
c.214C>G (p.His72Asp)
c.627C>G
n.2919C>G
c.2746C>G (p.His916Asp)
c.2023C>G (p.His675Asp)
c.574C>G (p.His192Asp)
 ClinVar dbSNP
2g.165344768C>TCA349015469SCN2Ac.2776C>T (p.His926Tyr)
c.*1095C>T (n.*1095C>T)
c.*763C>T (n.*763C>T)
c.*3299C>T (n.*3299C>T)
c.*718C>T (n.*718C>T)
c.2380C>T (p.His794Tyr)
c.214C>T (p.His72Tyr)
c.627C>T
n.2919C>T
c.2746C>T (p.His916Tyr)
c.2023C>T (p.His675Tyr)
c.574C>T (p.His192Tyr)
2g.165344769A=CA1304545527SCN2Ac.2777A= (p.His926=)
c.*1096A= (n.*1096A=)
c.*764A= (n.*764A=)
c.*3300A= (n.*3300A=)
c.*719A= (n.*719A=)
c.2381A= (p.His794=)
c.215A= (p.His72=)
c.628A=
n.2920A=
c.2747A= (p.His916=)
c.2024A= (p.His675=)
c.575A= (p.His192=)
2g.165344769A>CCA349015470SCN2Ac.2777A>C (p.His926Pro)
c.*1096A>C (n.*1096A>C)
c.*764A>C (n.*764A>C)
c.*3300A>C (n.*3300A>C)
c.*719A>C (n.*719A>C)
c.2381A>C (p.His794Pro)
c.215A>C (p.His72Pro)
c.628A>C
n.2920A>C
c.2747A>C (p.His916Pro)
c.2024A>C (p.His675Pro)
c.575A>C (p.His192Pro)
2g.165344769A>GCA349015473SCN2Ac.2777A>G (p.His926Arg)
c.*1096A>G (n.*1096A>G)
c.*764A>G (n.*764A>G)
c.*3300A>G (n.*3300A>G)
c.*719A>G (n.*719A>G)
c.2381A>G (p.His794Arg)
c.215A>G (p.His72Arg)
c.628A>G
n.2920A>G
c.2747A>G (p.His916Arg)
c.2024A>G (p.His675Arg)
c.575A>G (p.His192Arg)
 gnomAD v4
2g.165344769A>TCA317901SCN2Ac.2777A>T (p.His926Leu)
c.*1096A>T (n.*1096A>T)
c.*764A>T (n.*764A>T)
c.*3300A>T (n.*3300A>T)
c.*719A>T (n.*719A>T)
c.2381A>T (p.His794Leu)
c.215A>T (p.His72Leu)
c.628A>T
n.2920A>T
c.2747A>T (p.His916Leu)
c.2024A>T (p.His675Leu)
c.575A>T (p.His192Leu)
 dbSNP
2g.165344770T>ACA349015477SCN2Ac.2778T>A (p.His926Gln)
c.*1097T>A (n.*1097T>A)
c.*765T>A (n.*765T>A)
c.*3301T>A (n.*3301T>A)
c.*720T>A (n.*720T>A)
c.2382T>A (p.His794Gln)
c.216T>A (p.His72Gln)
c.629T>A
n.2921T>A
c.2748T>A (p.His916Gln)
c.2025T>A (p.His675Gln)
c.576T>A (p.His192Gln)
2g.165344770T>CCA429972399SCN2Ac.2778T>C (p.His926=)
c.*1097T>C (n.*1097T>C)
c.*765T>C (n.*765T>C)
c.*3301T>C (n.*3301T>C)
c.*720T>C (n.*720T>C)
c.2382T>C (p.His794=)
c.216T>C (p.His72=)
c.629T>C
n.2921T>C
c.2748T>C (p.His916=)
c.2025T>C (p.His675=)
c.576T>C (p.His192=)
2g.165344770T>GCA349015480SCN2Ac.2778T>G (p.His926Gln)
c.*1097T>G (n.*1097T>G)
c.*765T>G (n.*765T>G)
c.*3301T>G (n.*3301T>G)
c.*720T>G (n.*720T>G)
c.2382T>G (p.His794Gln)
c.216T>G (p.His72Gln)
c.629T>G
n.2921T>G
c.2748T>G (p.His916Gln)
c.2025T>G (p.His675Gln)
c.576T>G (p.His192Gln)
 gnomAD v4
2g.165344771G>ACA349015483SCN2Ac.2779G>A (p.Asp927Asn)
c.*1098G>A (n.*1098G>A)
c.*766G>A (n.*766G>A)
c.*3302G>A (n.*3302G>A)
c.*721G>A (n.*721G>A)
c.2383G>A (p.Asp795Asn)
c.217G>A (p.Asp73Asn)
c.630G>A
n.2922G>A
c.2749G>A (p.Asp917Asn)
c.2026G>A (p.Asp676Asn)
c.577G>A (p.Asp193Asn)
2g.165344771G>CCA349015488SCN2Ac.2779G>C (p.Asp927His)
c.*1098G>C (n.*1098G>C)
c.*766G>C (n.*766G>C)
c.*3302G>C (n.*3302G>C)
c.*721G>C (n.*721G>C)
c.2383G>C (p.Asp795His)
c.217G>C (p.Asp73His)
c.630G>C
n.2922G>C
c.2749G>C (p.Asp917His)
c.2026G>C (p.Asp676His)
c.577G>C (p.Asp193His)
2g.165344771G>TCA349015491SCN2Ac.2779G>T (p.Asp927Tyr)
c.*1098G>T (n.*1098G>T)
c.*766G>T (n.*766G>T)
c.*3302G>T (n.*3302G>T)
c.*721G>T (n.*721G>T)
c.2383G>T (p.Asp795Tyr)
c.217G>T (p.Asp73Tyr)
c.630G>T
n.2922G>T
c.2749G>T (p.Asp917Tyr)
c.2026G>T (p.Asp676Tyr)
c.577G>T (p.Asp193Tyr)
 ClinVar
2g.165344772A>CCA349015508SCN2Ac.2780A>C (p.Asp927Ala)
c.*1099A>C (n.*1099A>C)
c.*767A>C (n.*767A>C)
c.*3303A>C (n.*3303A>C)
c.*722A>C (n.*722A>C)
c.2384A>C (p.Asp795Ala)
c.218A>C (p.Asp73Ala)
c.631A>C
n.2923A>C
c.2750A>C (p.Asp917Ala)
c.2027A>C (p.Asp676Ala)
c.578A>C (p.Asp193Ala)
2g.165344772A>GCA349015511SCN2Ac.2780A>G (p.Asp927Gly)
c.*1099A>G (n.*1099A>G)
c.*767A>G (n.*767A>G)
c.*3303A>G (n.*3303A>G)
c.*722A>G (n.*722A>G)
c.2384A>G (p.Asp795Gly)
c.218A>G (p.Asp73Gly)
c.631A>G
n.2923A>G
c.2750A>G (p.Asp917Gly)
c.2027A>G (p.Asp676Gly)
c.578A>G (p.Asp193Gly)
2g.165344772A>TCA349015518SCN2Ac.2780A>T (p.Asp927Val)
c.*1099A>T (n.*1099A>T)
c.*767A>T (n.*767A>T)
c.*3303A>T (n.*3303A>T)
c.*722A>T (n.*722A>T)
c.2384A>T (p.Asp795Val)
c.218A>T (p.Asp73Val)
c.631A>T
n.2923A>T
c.2750A>T (p.Asp917Val)
c.2027A>T (p.Asp676Val)
c.578A>T (p.Asp193Val)
2g.165344773C>ACA349015520SCN2Ac.2781C>A (p.Asp927Glu)
c.*1100C>A (n.*1100C>A)
c.*768C>A (n.*768C>A)
c.*3304C>A (n.*3304C>A)
c.*723C>A (n.*723C>A)
c.2385C>A (p.Asp795Glu)
c.219C>A (p.Asp73Glu)
c.632C>A
n.2924C>A
c.2751C>A (p.Asp917Glu)
c.2028C>A (p.Asp676Glu)
c.579C>A (p.Asp193Glu)
2g.165344773C>GCA349015522SCN2Ac.2781C>G (p.Asp927Glu)
c.*1100C>G (n.*1100C>G)
c.*768C>G (n.*768C>G)
c.*3304C>G (n.*3304C>G)
c.*723C>G (n.*723C>G)
c.2385C>G (p.Asp795Glu)
c.219C>G (p.Asp73Glu)
c.632C>G
n.2924C>G
c.2751C>G (p.Asp917Glu)
c.2028C>G (p.Asp676Glu)
c.579C>G (p.Asp193Glu)
2g.165344773C>TCA429972544SCN2Ac.2781C>T (p.Asp927=)
c.*1100C>T (n.*1100C>T)
c.*768C>T (n.*768C>T)
c.*3304C>T (n.*3304C>T)
c.*723C>T (n.*723C>T)
c.2385C>T (p.Asp795=)
c.219C>T (p.Asp73=)
c.632C>T
n.2924C>T
c.2751C>T (p.Asp917=)
c.2028C>T (p.Asp676=)
c.579C>T (p.Asp193=)
2g.165344774T>ACA349015525SCN2Ac.2782T>A (p.Phe928Ile)
c.*1101T>A (n.*1101T>A)
c.*769T>A (n.*769T>A)
c.*3305T>A (n.*3305T>A)
c.*724T>A (n.*724T>A)
c.2386T>A (p.Phe796Ile)
c.220T>A (p.Phe74Ile)
c.633T>A
n.2925T>A
c.2752T>A (p.Phe918Ile)
c.2029T>A (p.Phe677Ile)
c.580T>A (p.Phe194Ile)
2g.165344774T>CCA349015527SCN2Ac.2782T>C (p.Phe928Leu)
c.*1101T>C (n.*1101T>C)
c.*769T>C (n.*769T>C)
c.*3305T>C (n.*3305T>C)
c.*724T>C (n.*724T>C)
c.2386T>C (p.Phe796Leu)
c.220T>C (p.Phe74Leu)
c.633T>C
n.2925T>C
c.2752T>C (p.Phe918Leu)
c.2029T>C (p.Phe677Leu)
c.580T>C (p.Phe194Leu)
2g.165344774T>GCA349015530SCN2Ac.2782T>G (p.Phe928Val)
c.*1101T>G (n.*1101T>G)
c.*769T>G (n.*769T>G)
c.*3305T>G (n.*3305T>G)
c.*724T>G (n.*724T>G)
c.2386T>G (p.Phe796Val)
c.220T>G (p.Phe74Val)
c.633T>G
n.2925T>G
c.2752T>G (p.Phe918Val)
c.2029T>G (p.Phe677Val)
c.580T>G (p.Phe194Val)
2g.165344775T>ACA349015532SCN2Ac.2783T>A (p.Phe928Tyr)
c.*1102T>A (n.*1102T>A)
c.*770T>A (n.*770T>A)
c.*3306T>A (n.*3306T>A)
c.*725T>A (n.*725T>A)
c.2387T>A (p.Phe796Tyr)
c.221T>A (p.Phe74Tyr)
c.634T>A
n.2926T>A
c.2753T>A (p.Phe918Tyr)
c.2030T>A (p.Phe677Tyr)
c.581T>A (p.Phe194Tyr)
2g.165344775T>CCA349015535SCN2Ac.2783T>C (p.Phe928Ser)
c.*1102T>C (n.*1102T>C)
c.*770T>C (n.*770T>C)
c.*3306T>C (n.*3306T>C)
c.*725T>C (n.*725T>C)
c.2387T>C (p.Phe796Ser)
c.221T>C (p.Phe74Ser)
c.634T>C
n.2926T>C
c.2753T>C (p.Phe918Ser)
c.2030T>C (p.Phe677Ser)
c.581T>C (p.Phe194Ser)
2g.165344775T>GCA349015536SCN2Ac.2783T>G (p.Phe928Cys)
c.*1102T>G (n.*1102T>G)
c.*770T>G (n.*770T>G)
c.*3306T>G (n.*3306T>G)
c.*725T>G (n.*725T>G)
c.2387T>G (p.Phe796Cys)
c.221T>G (p.Phe74Cys)
c.634T>G
n.2926T>G
c.2753T>G (p.Phe918Cys)
c.2030T>G (p.Phe677Cys)
c.581T>G (p.Phe194Cys)
2g.165344776T>ACA349015540SCN2Ac.2784T>A (p.Phe928Leu)
c.*1103T>A (n.*1103T>A)
c.*771T>A (n.*771T>A)
c.*3307T>A (n.*3307T>A)
c.*726T>A (n.*726T>A)
c.2388T>A (p.Phe796Leu)
c.222T>A (p.Phe74Leu)
c.635T>A
n.2927T>A
c.2754T>A (p.Phe918Leu)
c.2031T>A (p.Phe677Leu)
c.582T>A (p.Phe194Leu)
2g.165344776T>CCA429972555SCN2Ac.2784T>C (p.Phe928=)
c.*1103T>C (n.*1103T>C)
c.*771T>C (n.*771T>C)
c.*3307T>C (n.*3307T>C)
c.*726T>C (n.*726T>C)
c.2388T>C (p.Phe796=)
c.222T>C (p.Phe74=)
c.635T>C
n.2927T>C
c.2754T>C (p.Phe918=)
c.2031T>C (p.Phe677=)
c.582T>C (p.Phe194=)
 gnomAD v4
2g.165344776T>GCA349015544SCN2Ac.2784T>G (p.Phe928Leu)
c.*1103T>G (n.*1103T>G)
c.*771T>G (n.*771T>G)
c.*3307T>G (n.*3307T>G)
c.*726T>G (n.*726T>G)
c.2388T>G (p.Phe796Leu)
c.222T>G (p.Phe74Leu)
c.635T>G
n.2927T>G
c.2754T>G (p.Phe918Leu)
c.2031T>G (p.Phe677Leu)
c.582T>G (p.Phe194Leu)
2g.165344777T>ACA349015547SCN2Ac.2785T>A (p.Phe929Ile)
c.*1104T>A (n.*1104T>A)
c.*772T>A (n.*772T>A)
c.*3308T>A (n.*3308T>A)
c.*727T>A (n.*727T>A)
c.2389T>A (p.Phe797Ile)
c.223T>A (p.Phe75Ile)
c.636T>A
n.2928T>A
c.2755T>A (p.Phe919Ile)
c.2032T>A (p.Phe678Ile)
c.583T>A (p.Phe195Ile)
2g.165344777T>CCA349015551SCN2Ac.2785T>C (p.Phe929Leu)
c.*1104T>C (n.*1104T>C)
c.*772T>C (n.*772T>C)
c.*3308T>C (n.*3308T>C)
c.*727T>C (n.*727T>C)
c.2389T>C (p.Phe797Leu)
c.223T>C (p.Phe75Leu)
c.636T>C
n.2928T>C
c.2755T>C (p.Phe919Leu)
c.2032T>C (p.Phe678Leu)
c.583T>C (p.Phe195Leu)
2g.165344777T>GCA349015560SCN2Ac.2785T>G (p.Phe929Val)
c.*1104T>G (n.*1104T>G)
c.*772T>G (n.*772T>G)
c.*3308T>G (n.*3308T>G)
c.*727T>G (n.*727T>G)
c.2389T>G (p.Phe797Val)
c.223T>G (p.Phe75Val)
c.636T>G
n.2928T>G
c.2755T>G (p.Phe919Val)
c.2032T>G (p.Phe678Val)
c.583T>G (p.Phe195Val)
2g.165344778T>ACA349015567SCN2Ac.2786T>A (p.Phe929Tyr)
c.*1105T>A (n.*1105T>A)
c.*773T>A (n.*773T>A)
c.*3309T>A (n.*3309T>A)
c.*728T>A (n.*728T>A)
c.2390T>A (p.Phe797Tyr)
c.224T>A (p.Phe75Tyr)
c.637T>A
n.2929T>A
c.2756T>A (p.Phe919Tyr)
c.2033T>A (p.Phe678Tyr)
c.584T>A (p.Phe195Tyr)
2g.165344778T>CCA349015570SCN2Ac.2786T>C (p.Phe929Ser)
c.*1105T>C (n.*1105T>C)
c.*773T>C (n.*773T>C)
c.*3309T>C (n.*3309T>C)
c.*728T>C (n.*728T>C)
c.2390T>C (p.Phe797Ser)
c.224T>C (p.Phe75Ser)
c.637T>C
n.2929T>C
c.2756T>C (p.Phe919Ser)
c.2033T>C (p.Phe678Ser)
c.584T>C (p.Phe195Ser)
 ClinVar
2g.165344778T>GCA349015565SCN2Ac.2786T>G (p.Phe929Cys)
c.*1105T>G (n.*1105T>G)
c.*773T>G (n.*773T>G)
c.*3309T>G (n.*3309T>G)
c.*728T>G (n.*728T>G)
c.2390T>G (p.Phe797Cys)
c.224T>G (p.Phe75Cys)
c.637T>G
n.2929T>G
c.2756T>G (p.Phe919Cys)
c.2033T>G (p.Phe678Cys)
c.584T>G (p.Phe195Cys)
2g.165344779C>ACA349015572SCN2Ac.2787C>A (p.Phe929Leu)
c.*1106C>A (n.*1106C>A)
c.*774C>A (n.*774C>A)
c.*3310C>A (n.*3310C>A)
c.*729C>A (n.*729C>A)
c.2391C>A (p.Phe797Leu)
c.225C>A (p.Phe75Leu)
c.638C>A
n.2930C>A
c.2757C>A (p.Phe919Leu)
c.2034C>A (p.Phe678Leu)
c.585C>A (p.Phe195Leu)
2g.165344779C=CA1304545528SCN2Ac.2787C= (p.Phe929=)
c.*1106C= (n.*1106C=)
c.*774C= (n.*774C=)
c.*3310C= (n.*3310C=)
c.*729C= (n.*729C=)
c.2391C= (p.Phe797=)
c.225C= (p.Phe75=)
c.638C=
n.2930C=
c.2757C= (p.Phe919=)
c.2034C= (p.Phe678=)
c.585C= (p.Phe195=)
2g.165344779C>GCA349015575SCN2Ac.2787C>G (p.Phe929Leu)
c.*1106C>G (n.*1106C>G)
c.*774C>G (n.*774C>G)
c.*3310C>G (n.*3310C>G)
c.*729C>G (n.*729C>G)
c.2391C>G (p.Phe797Leu)
c.225C>G (p.Phe75Leu)
c.638C>G
n.2930C>G
c.2757C>G (p.Phe919Leu)
c.2034C>G (p.Phe678Leu)
c.585C>G (p.Phe195Leu)
2g.165344779C>TCA429972564SCN2Ac.2787C>T (p.Phe929=)
c.*1106C>T (n.*1106C>T)
c.*774C>T (n.*774C>T)
c.*3310C>T (n.*3310C>T)
c.*729C>T (n.*729C>T)
c.2391C>T (p.Phe797=)
c.225C>T (p.Phe75=)
c.638C>T
n.2930C>T
c.2757C>T (p.Phe919=)
c.2034C>T (p.Phe678=)
c.585C>T (p.Phe195=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.165344780C>ACA349015579SCN2Ac.2788C>A (p.His930Asn)
c.*1107C>A (n.*1107C>A)
c.*775C>A (n.*775C>A)
c.*3311C>A (n.*3311C>A)
c.*730C>A (n.*730C>A)
c.2392C>A (p.His798Asn)
c.226C>A (p.His76Asn)
c.639C>A
n.2931C>A
c.2758C>A (p.His920Asn)
c.2035C>A (p.His679Asn)
c.586C>A (p.His196Asn)
2g.165344780C=CA1304545529SCN2Ac.2788C= (p.His930=)
c.*1107C= (n.*1107C=)
c.*775C= (n.*775C=)
c.*3311C= (n.*3311C=)
c.*730C= (n.*730C=)
c.2392C= (p.His798=)
c.226C= (p.His76=)
c.639C=
n.2931C=
c.2758C= (p.His920=)
c.2035C= (p.His679=)
c.586C= (p.His196=)
2g.165344780C>GCA349015581SCN2Ac.2788C>G (p.His930Asp)
c.*1107C>G (n.*1107C>G)
c.*775C>G (n.*775C>G)
c.*3311C>G (n.*3311C>G)
c.*730C>G (n.*730C>G)
c.2392C>G (p.His798Asp)
c.226C>G (p.His76Asp)
c.639C>G
n.2931C>G
c.2758C>G (p.His920Asp)
c.2035C>G (p.His679Asp)
c.586C>G (p.His196Asp)
2g.165344780C>TCA349015583SCN2Ac.2788C>T (p.His930Tyr)
c.*1107C>T (n.*1107C>T)
c.*775C>T (n.*775C>T)
c.*3311C>T (n.*3311C>T)
c.*730C>T (n.*730C>T)
c.2392C>T (p.His798Tyr)
c.226C>T (p.His76Tyr)
c.639C>T
n.2931C>T
c.2758C>T (p.His920Tyr)
c.2035C>T (p.His679Tyr)
c.586C>T (p.His196Tyr)
 ClinVar dbSNP
2g.165344781A>CCA349015585SCN2Ac.2789A>C (p.His930Pro)
c.*1108A>C (n.*1108A>C)
c.*776A>C (n.*776A>C)
c.*3312A>C (n.*3312A>C)
c.*731A>C (n.*731A>C)
c.2393A>C (p.His798Pro)
c.227A>C (p.His76Pro)
c.640A>C
n.2932A>C
c.2759A>C (p.His920Pro)
c.2036A>C (p.His679Pro)
c.587A>C (p.His196Pro)
2g.165344781A>GCA349015588SCN2Ac.2789A>G (p.His930Arg)
c.*1108A>G (n.*1108A>G)
c.*776A>G (n.*776A>G)
c.*3312A>G (n.*3312A>G)
c.*731A>G (n.*731A>G)
c.2393A>G (p.His798Arg)
c.227A>G (p.His76Arg)
c.640A>G
n.2932A>G
c.2759A>G (p.His920Arg)
c.2036A>G (p.His679Arg)
c.587A>G (p.His196Arg)
2g.165344781A>TCA349015593SCN2Ac.2789A>T (p.His930Leu)
c.*1108A>T (n.*1108A>T)
c.*776A>T (n.*776A>T)
c.*3312A>T (n.*3312A>T)
c.*731A>T (n.*731A>T)
c.2393A>T (p.His798Leu)
c.227A>T (p.His76Leu)
c.640A>T
n.2932A>T
c.2759A>T (p.His920Leu)
c.2036A>T (p.His679Leu)
c.587A>T (p.His196Leu)
2g.165344782C>ACA349015608SCN2Ac.2790C>A (p.His930Gln)
c.*1109C>A (n.*1109C>A)
c.*777C>A (n.*777C>A)
c.*3313C>A (n.*3313C>A)
c.*732C>A (n.*732C>A)
c.2394C>A (p.His798Gln)
c.228C>A (p.His76Gln)
c.641C>A
n.2933C>A
c.2760C>A (p.His920Gln)
c.2037C>A (p.His679Gln)
c.588C>A (p.His196Gln)
 COSMIC COSMIC
2g.165344782C>GCA349015611SCN2Ac.2790C>G (p.His930Gln)
c.*1109C>G (n.*1109C>G)
c.*777C>G (n.*777C>G)
c.*3313C>G (n.*3313C>G)
c.*732C>G (n.*732C>G)
c.2394C>G (p.His798Gln)
c.228C>G (p.His76Gln)
c.641C>G
n.2933C>G
c.2760C>G (p.His920Gln)
c.2037C>G (p.His679Gln)
c.588C>G (p.His196Gln)
2g.165344782C>TCA429972574SCN2Ac.2790C>T (p.His930=)
c.*1109C>T (n.*1109C>T)
c.*777C>T (n.*777C>T)
c.*3313C>T (n.*3313C>T)
c.*732C>T (n.*732C>T)
c.2394C>T (p.His798=)
c.228C>T (p.His76=)
c.641C>T
n.2933C>T
c.2760C>T (p.His920=)
c.2037C>T (p.His679=)
c.588C>T (p.His196=)
2g.165344783T>ACA349015614SCN2Ac.2791T>A (p.Ser931Thr)
c.*1110T>A (n.*1110T>A)
c.*778T>A (n.*778T>A)
c.*3314T>A (n.*3314T>A)
c.*733T>A (n.*733T>A)
c.2395T>A (p.Ser799Thr)
c.229T>A (p.Ser77Thr)
c.642T>A
n.2934T>A
c.2761T>A (p.Ser921Thr)
c.2038T>A (p.Ser680Thr)
c.589T>A (p.Ser197Thr)
2g.165344783T>CCA349015623SCN2Ac.2791T>C (p.Ser931Pro)
c.*1110T>C (n.*1110T>C)
c.*778T>C (n.*778T>C)
c.*3314T>C (n.*3314T>C)
c.*733T>C (n.*733T>C)
c.2395T>C (p.Ser799Pro)
c.229T>C (p.Ser77Pro)
c.642T>C
n.2934T>C
c.2761T>C (p.Ser921Pro)
c.2038T>C (p.Ser680Pro)
c.589T>C (p.Ser197Pro)
2g.165344783T>GCA349015638SCN2Ac.2791T>G (p.Ser931Ala)
c.*1110T>G (n.*1110T>G)
c.*778T>G (n.*778T>G)
c.*3314T>G (n.*3314T>G)
c.*733T>G (n.*733T>G)
c.2395T>G (p.Ser799Ala)
c.229T>G (p.Ser77Ala)
c.642T>G
n.2934T>G
c.2761T>G (p.Ser921Ala)
c.2038T>G (p.Ser680Ala)
c.589T>G (p.Ser197Ala)
2g.165344784C>ACA349015656SCN2Ac.2792C>A (p.Ser931Tyr)
c.*1111C>A (n.*1111C>A)
c.*779C>A (n.*779C>A)
c.*3315C>A (n.*3315C>A)
c.*734C>A (n.*734C>A)
c.2396C>A (p.Ser799Tyr)
c.230C>A (p.Ser77Tyr)
c.643C>A
n.2935C>A
c.2762C>A (p.Ser921Tyr)
c.2039C>A (p.Ser680Tyr)
c.590C>A (p.Ser197Tyr)
 ClinVar dbSNP
2g.165344784C=CA1304545530SCN2Ac.2792C= (p.Ser931=)
c.*1111C= (n.*1111C=)
c.*779C= (n.*779C=)
c.*3315C= (n.*3315C=)
c.*734C= (n.*734C=)
c.2396C= (p.Ser799=)
c.230C= (p.Ser77=)
c.643C=
n.2935C=
c.2762C= (p.Ser921=)
c.2039C= (p.Ser680=)
c.590C= (p.Ser197=)
2g.165344784C>GCA349015653SCN2Ac.2792C>G (p.Ser931Cys)
c.*1111C>G (n.*1111C>G)
c.*779C>G (n.*779C>G)
c.*3315C>G (n.*3315C>G)
c.*734C>G (n.*734C>G)
c.2396C>G (p.Ser799Cys)
c.230C>G (p.Ser77Cys)
c.643C>G
n.2935C>G
c.2762C>G (p.Ser921Cys)
c.2039C>G (p.Ser680Cys)
c.590C>G (p.Ser197Cys)
2g.165344784C>TCA349015641SCN2Ac.2792C>T (p.Ser931Phe)
c.*1111C>T (n.*1111C>T)
c.*779C>T (n.*779C>T)
c.*3315C>T (n.*3315C>T)
c.*734C>T (n.*734C>T)
c.2396C>T (p.Ser799Phe)
c.230C>T (p.Ser77Phe)
c.643C>T
n.2935C>T
c.2762C>T (p.Ser921Phe)
c.2039C>T (p.Ser680Phe)
c.590C>T (p.Ser197Phe)
 COSMIC COSMIC
2g.165344785C>ACA429972577SCN2Ac.2793C>A (p.Ser931=)
c.*1112C>A (n.*1112C>A)
c.*780C>A (n.*780C>A)
c.*3316C>A (n.*3316C>A)
c.*735C>A (n.*735C>A)
c.2397C>A (p.Ser799=)
c.231C>A (p.Ser77=)
c.644C>A
n.2936C>A
c.2763C>A (p.Ser921=)
c.2040C>A (p.Ser680=)
c.591C>A (p.Ser197=)
2g.165344785C=CA1304545531SCN2Ac.2793C= (p.Ser931=)
c.*1112C= (n.*1112C=)
c.*780C= (n.*780C=)
c.*3316C= (n.*3316C=)
c.*735C= (n.*735C=)
c.2397C= (p.Ser799=)
c.231C= (p.Ser77=)
c.644C=
n.2936C=
c.2763C= (p.Ser921=)
c.2040C= (p.Ser680=)
c.591C= (p.Ser197=)
2g.165344785C>GCA429972578SCN2Ac.2793C>G (p.Ser931=)
c.*1112C>G (n.*1112C>G)
c.*780C>G (n.*780C>G)
c.*3316C>G (n.*3316C>G)
c.*735C>G (n.*735C>G)
c.2397C>G (p.Ser799=)
c.231C>G (p.Ser77=)
c.644C>G
n.2936C>G
c.2763C>G (p.Ser921=)
c.2040C>G (p.Ser680=)
c.591C>G (p.Ser197=)
2g.165344785C>TCA429972579SCN2Ac.2793C>T (p.Ser931=)
c.*1112C>T (n.*1112C>T)
c.*780C>T (n.*780C>T)
c.*3316C>T (n.*3316C>T)
c.*735C>T (n.*735C>T)
c.2397C>T (p.Ser799=)
c.231C>T (p.Ser77=)
c.644C>T
n.2936C>T
c.2763C>T (p.Ser921=)
c.2040C>T (p.Ser680=)
c.591C>T (p.Ser197=)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.165344786T>ACA349015661SCN2Ac.2794T>A (p.Phe932Ile)
c.*1113T>A (n.*1113T>A)
c.*781T>A (n.*781T>A)
c.*3317T>A (n.*3317T>A)
c.*736T>A (n.*736T>A)
c.2398T>A (p.Phe800Ile)
c.232T>A (p.Phe78Ile)
c.645T>A
n.2937T>A
c.2764T>A (p.Phe922Ile)
c.2041T>A (p.Phe681Ile)
c.592T>A (p.Phe198Ile)
 COSMIC COSMIC
2g.165344786T>CCA349015663SCN2Ac.2794T>C (p.Phe932Leu)
c.*1113T>C (n.*1113T>C)
c.*781T>C (n.*781T>C)
c.*3317T>C (n.*3317T>C)
c.*736T>C (n.*736T>C)
c.2398T>C (p.Phe800Leu)
c.232T>C (p.Phe78Leu)
c.645T>C
n.2937T>C
c.2764T>C (p.Phe922Leu)
c.2041T>C (p.Phe681Leu)
c.592T>C (p.Phe198Leu)
2g.165344786T>GCA349015667SCN2Ac.2794T>G (p.Phe932Val)
c.*1113T>G (n.*1113T>G)
c.*781T>G (n.*781T>G)
c.*3317T>G (n.*3317T>G)
c.*736T>G (n.*736T>G)
c.2398T>G (p.Phe800Val)
c.232T>G (p.Phe78Val)
c.645T>G
n.2937T>G
c.2764T>G (p.Phe922Val)
c.2041T>G (p.Phe681Val)
c.592T>G (p.Phe198Val)
2g.165344787T>ACA349015668SCN2Ac.2795T>A (p.Phe932Tyr)
c.*1114T>A (n.*1114T>A)
c.*782T>A (n.*782T>A)
c.*3318T>A (n.*3318T>A)
c.*737T>A (n.*737T>A)
c.2399T>A (p.Phe800Tyr)
c.233T>A (p.Phe78Tyr)
c.646T>A
n.2938T>A
c.2765T>A (p.Phe922Tyr)
c.2042T>A (p.Phe681Tyr)
c.593T>A (p.Phe198Tyr)
2g.165344787T>CCA349015669SCN2Ac.2795T>C (p.Phe932Ser)
c.*1114T>C (n.*1114T>C)
c.*782T>C (n.*782T>C)
c.*3318T>C (n.*3318T>C)
c.*737T>C (n.*737T>C)
c.2399T>C (p.Phe800Ser)
c.233T>C (p.Phe78Ser)
c.646T>C
n.2938T>C
c.2765T>C (p.Phe922Ser)
c.2042T>C (p.Phe681Ser)
c.593T>C (p.Phe198Ser)
 dbSNP
2g.165344787T>GCA349015670SCN2Ac.2795T>G (p.Phe932Cys)
c.*1114T>G (n.*1114T>G)
c.*782T>G (n.*782T>G)
c.*3318T>G (n.*3318T>G)
c.*737T>G (n.*737T>G)
c.2399T>G (p.Phe800Cys)
c.233T>G (p.Phe78Cys)
c.646T>G
n.2938T>G
c.2765T>G (p.Phe922Cys)
c.2042T>G (p.Phe681Cys)
c.593T>G (p.Phe198Cys)
2g.165344787T=CA1304545532SCN2Ac.2795T= (p.Phe932=)
c.*1114T= (n.*1114T=)
c.*782T= (n.*782T=)
c.*3318T= (n.*3318T=)
c.*737T= (n.*737T=)
c.2399T= (p.Phe800=)
c.233T= (p.Phe78=)
c.646T=
n.2938T=
c.2765T= (p.Phe922=)
c.2042T= (p.Phe681=)
c.593T= (p.Phe198=)
2g.165344788C>ACA349015671SCN2Ac.2796C>A (p.Phe932Leu)
c.*1115C>A (n.*1115C>A)
c.*783C>A (n.*783C>A)
c.*3319C>A (n.*3319C>A)
c.*738C>A (n.*738C>A)
c.2400C>A (p.Phe800Leu)
c.234C>A (p.Phe78Leu)
c.647C>A
n.2939C>A
c.2766C>A (p.Phe922Leu)
c.2043C>A (p.Phe681Leu)
c.594C>A (p.Phe198Leu)
2g.165344788C>GCA349015672SCN2Ac.2796C>G (p.Phe932Leu)
c.*1115C>G (n.*1115C>G)
c.*783C>G (n.*783C>G)
c.*3319C>G (n.*3319C>G)
c.*738C>G (n.*738C>G)
c.2400C>G (p.Phe800Leu)
c.234C>G (p.Phe78Leu)
c.647C>G
n.2939C>G
c.2766C>G (p.Phe922Leu)
c.2043C>G (p.Phe681Leu)
c.594C>G (p.Phe198Leu)
2g.165344788C>TCA429972585SCN2Ac.2796C>T (p.Phe932=)
c.*1115C>T (n.*1115C>T)
c.*783C>T (n.*783C>T)
c.*3319C>T (n.*3319C>T)
c.*738C>T (n.*738C>T)
c.2400C>T (p.Phe800=)
c.234C>T (p.Phe78=)
c.647C>T
n.2939C>T
c.2766C>T (p.Phe922=)
c.2043C>T (p.Phe681=)
c.594C>T (p.Phe198=)
2g.165344789C>ACA349015673SCN2Ac.2797C>A (p.Leu933Met)
c.*1116C>A (n.*1116C>A)
c.*784C>A (n.*784C>A)
c.*3320C>A (n.*3320C>A)
c.*739C>A (n.*739C>A)
c.2401C>A (p.Leu801Met)
c.235C>A (p.Leu79Met)
c.648C>A
n.2940C>A
c.2767C>A (p.Leu923Met)
c.2044C>A (p.Leu682Met)
c.595C>A (p.Leu199Met)
 COSMIC COSMIC
2g.165344789C>GCA349015674SCN2Ac.2797C>G (p.Leu933Val)
c.*1116C>G (n.*1116C>G)
c.*784C>G (n.*784C>G)
c.*3320C>G (n.*3320C>G)
c.*739C>G (n.*739C>G)
c.2401C>G (p.Leu801Val)
c.235C>G (p.Leu79Val)
c.648C>G
n.2940C>G
c.2767C>G (p.Leu923Val)
c.2044C>G (p.Leu682Val)
c.595C>G (p.Leu199Val)
2g.165344789C>TCA429972589SCN2Ac.2797C>T (p.Leu933=)
c.*1116C>T (n.*1116C>T)
c.*784C>T (n.*784C>T)
c.*3320C>T (n.*3320C>T)
c.*739C>T (n.*739C>T)
c.2401C>T (p.Leu801=)
c.235C>T (p.Leu79=)
c.648C>T
n.2940C>T
c.2767C>T (p.Leu923=)
c.2044C>T (p.Leu682=)
c.595C>T (p.Leu199=)
2g.165344790T>ACA349015678SCN2Ac.2798T>A (p.Leu933Gln)
c.*1117T>A (n.*1117T>A)
c.*785T>A (n.*785T>A)
c.*3321T>A (n.*3321T>A)
c.*740T>A (n.*740T>A)
c.2402T>A (p.Leu801Gln)
c.236T>A (p.Leu79Gln)
c.649T>A
n.2941T>A
c.2768T>A (p.Leu923Gln)
c.2045T>A (p.Leu682Gln)
c.596T>A (p.Leu199Gln)
2g.165344790T>CCA349015680SCN2Ac.2798T>C (p.Leu933Pro)
c.*1117T>C (n.*1117T>C)
c.*785T>C (n.*785T>C)
c.*3321T>C (n.*3321T>C)
c.*740T>C (n.*740T>C)
c.2402T>C (p.Leu801Pro)
c.236T>C (p.Leu79Pro)
c.649T>C
n.2941T>C
c.2768T>C (p.Leu923Pro)
c.2045T>C (p.Leu682Pro)
c.596T>C (p.Leu199Pro)
2g.165344790T>GCA349015683SCN2Ac.2798T>G (p.Leu933Arg)
c.*1117T>G (n.*1117T>G)
c.*785T>G (n.*785T>G)
c.*3321T>G (n.*3321T>G)
c.*740T>G (n.*740T>G)
c.2402T>G (p.Leu801Arg)
c.236T>G (p.Leu79Arg)
c.649T>G
n.2941T>G
c.2768T>G (p.Leu923Arg)
c.2045T>G (p.Leu682Arg)
c.596T>G (p.Leu199Arg)
2g.165344791G>ACA1940021SCN2Ac.2799G>A (p.Leu933=)
c.*1118G>A (n.*1118G>A)
c.*786G>A (n.*786G>A)
c.*3322G>A (n.*3322G>A)
c.*741G>A (n.*741G>A)
c.2403G>A (p.Leu801=)
c.237G>A (p.Leu79=)
c.650G>A
n.2942G>A
c.2769G>A (p.Leu923=)
c.2046G>A (p.Leu682=)
c.597G>A (p.Leu199=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.165344791G>CCA429972593SCN2Ac.2799G>C (p.Leu933=)
c.*1118G>C (n.*1118G>C)
c.*786G>C (n.*786G>C)
c.*3322G>C (n.*3322G>C)
c.*741G>C (n.*741G>C)
c.2403G>C (p.Leu801=)
c.237G>C (p.Leu79=)
c.650G>C
n.2942G>C
c.2769G>C (p.Leu923=)
c.2046G>C (p.Leu682=)
c.597G>C (p.Leu199=)
2g.165344791G=CA1304545533SCN2Ac.2799G= (p.Leu933=)
c.*1118G= (n.*1118G=)
c.*786G= (n.*786G=)
c.*3322G= (n.*3322G=)
c.*741G= (n.*741G=)
c.2403G= (p.Leu801=)
c.237G= (p.Leu79=)
c.650G=
n.2942G=
c.2769G= (p.Leu923=)
c.2046G= (p.Leu682=)
c.597G= (p.Leu199=)
2g.165344791G>TCA429972595SCN2Ac.2799G>T (p.Leu933=)
c.*1118G>T (n.*1118G>T)
c.*786G>T (n.*786G>T)
c.*3322G>T (n.*3322G>T)
c.*741G>T (n.*741G>T)
c.2403G>T (p.Leu801=)
c.237G>T (p.Leu79=)
c.650G>T
n.2942G>T
c.2769G>T (p.Leu923=)
c.2046G>T (p.Leu682=)
c.597G>T (p.Leu199=)
2g.165344792A>CCA349015698SCN2Ac.2800A>C (p.Ile934Leu)
c.*1119A>C (n.*1119A>C)
c.*787A>C (n.*787A>C)
c.*3323A>C (n.*3323A>C)
c.*742A>C (n.*742A>C)
c.2404A>C (p.Ile802Leu)
c.238A>C (p.Ile80Leu)
c.651A>C
n.2943A>C
c.2770A>C (p.Ile924Leu)
c.2047A>C (p.Ile683Leu)
c.598A>C (p.Ile200Leu)
2g.165344792A>GCA349015700SCN2Ac.2800A>G (p.Ile934Val)
c.*1119A>G (n.*1119A>G)
c.*787A>G (n.*787A>G)
c.*3323A>G (n.*3323A>G)
c.*742A>G (n.*742A>G)
c.2404A>G (p.Ile802Val)
c.238A>G (p.Ile80Val)
c.651A>G
n.2943A>G
c.2770A>G (p.Ile924Val)
c.2047A>G (p.Ile683Val)
c.598A>G (p.Ile200Val)
 COSMIC COSMIC
2g.165344792A>TCA349015693SCN2Ac.2800A>T (p.Ile934Phe)
c.*1119A>T (n.*1119A>T)
c.*787A>T (n.*787A>T)
c.*3323A>T (n.*3323A>T)
c.*742A>T (n.*742A>T)
c.2404A>T (p.Ile802Phe)
c.238A>T (p.Ile80Phe)
c.651A>T
n.2943A>T
c.2770A>T (p.Ile924Phe)
c.2047A>T (p.Ile683Phe)
c.598A>T (p.Ile200Phe)
2g.165344793T>ACA349015707SCN2Ac.2801T>A (p.Ile934Asn)
c.*1120T>A (n.*1120T>A)
c.*788T>A (n.*788T>A)
c.*3324T>A (n.*3324T>A)
c.*743T>A (n.*743T>A)
c.2405T>A (p.Ile802Asn)
c.239T>A (p.Ile80Asn)
c.652T>A
n.2944T>A
c.2771T>A (p.Ile924Asn)
c.2048T>A (p.Ile683Asn)
c.599T>A (p.Ile200Asn)
2g.165344793T>CCA349015704SCN2Ac.2801T>C (p.Ile934Thr)
c.*1120T>C (n.*1120T>C)
c.*788T>C (n.*788T>C)
c.*3324T>C (n.*3324T>C)
c.*743T>C (n.*743T>C)
c.2405T>C (p.Ile802Thr)
c.239T>C (p.Ile80Thr)
c.652T>C
n.2944T>C
c.2771T>C (p.Ile924Thr)
c.2048T>C (p.Ile683Thr)
c.599T>C (p.Ile200Thr)
 COSMIC COSMIC
2g.165344793T>GCA349015715SCN2Ac.2801T>G (p.Ile934Ser)
c.*1120T>G (n.*1120T>G)
c.*788T>G (n.*788T>G)
c.*3324T>G (n.*3324T>G)
c.*743T>G (n.*743T>G)
c.2405T>G (p.Ile802Ser)
c.239T>G (p.Ile80Ser)
c.652T>G
n.2944T>G
c.2771T>G (p.Ile924Ser)
c.2048T>G (p.Ile683Ser)
c.599T>G (p.Ile200Ser)
2g.165344794C>ACA429972598SCN2Ac.2802C>A (p.Ile934=)
c.*1121C>A (n.*1121C>A)
c.*789C>A (n.*789C>A)
c.*3325C>A (n.*3325C>A)
c.*744C>A (n.*744C>A)
c.2406C>A (p.Ile802=)
c.240C>A (p.Ile80=)
c.653C>A
n.2945C>A
c.2772C>A (p.Ile924=)
c.2049C>A (p.Ile683=)
c.600C>A (p.Ile200=)
 gnomAD v4 COSMIC
2g.165344794C=CA1304545534SCN2Ac.2802C= (p.Ile934=)
c.*1121C= (n.*1121C=)
c.*789C= (n.*789C=)
c.*3325C= (n.*3325C=)
c.*744C= (n.*744C=)
c.2406C= (p.Ile802=)
c.240C= (p.Ile80=)
c.653C=
n.2945C=
c.2772C= (p.Ile924=)
c.2049C= (p.Ile683=)
c.600C= (p.Ile200=)
2g.165344794C>GCA349015719SCN2Ac.2802C>G (p.Ile934Met)
c.*1121C>G (n.*1121C>G)
c.*789C>G (n.*789C>G)
c.*3325C>G (n.*3325C>G)
c.*744C>G (n.*744C>G)
c.2406C>G (p.Ile802Met)
c.240C>G (p.Ile80Met)
c.653C>G
n.2945C>G
c.2772C>G (p.Ile924Met)
c.2049C>G (p.Ile683Met)
c.600C>G (p.Ile200Met)
2g.165344794C>TCA1940022SCN2Ac.2802C>T (p.Ile934=)
c.*1121C>T (n.*1121C>T)
c.*789C>T (n.*789C>T)
c.*3325C>T (n.*3325C>T)
c.*744C>T (n.*744C>T)
c.2406C>T (p.Ile802=)
c.240C>T (p.Ile80=)
c.653C>T
n.2945C>T
c.2772C>T (p.Ile924=)
c.2049C>T (p.Ile683=)
c.600C>T (p.Ile200=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344795G>ACA349015724SCN2Ac.2803G>A (p.Val935Met)
c.*1122G>A (n.*1122G>A)
c.*790G>A (n.*790G>A)
c.*3326G>A (n.*3326G>A)
c.*745G>A (n.*745G>A)
c.2407G>A (p.Val803Met)
c.241G>A (p.Val81Met)
c.654G>A
n.2946G>A
c.2773G>A (p.Val925Met)
c.2050G>A (p.Val684Met)
c.601G>A (p.Val201Met)
 dbSNP COSMIC COSMIC
2g.165344795G>CCA349015726SCN2Ac.2803G>C (p.Val935Leu)
c.*1122G>C (n.*1122G>C)
c.*790G>C (n.*790G>C)
c.*3326G>C (n.*3326G>C)
c.*745G>C (n.*745G>C)
c.2407G>C (p.Val803Leu)
c.241G>C (p.Val81Leu)
c.654G>C
n.2946G>C
c.2773G>C (p.Val925Leu)
c.2050G>C (p.Val684Leu)
c.601G>C (p.Val201Leu)
2g.165344795G=CA1304545535SCN2Ac.2803G= (p.Val935=)
c.*1122G= (n.*1122G=)
c.*790G= (n.*790G=)
c.*3326G= (n.*3326G=)
c.*745G= (n.*745G=)
c.2407G= (p.Val803=)
c.241G= (p.Val81=)
c.654G=
n.2946G=
c.2773G= (p.Val925=)
c.2050G= (p.Val684=)
c.601G= (p.Val201=)
2g.165344795G>TCA349015731SCN2Ac.2803G>T (p.Val935Leu)
c.*1122G>T (n.*1122G>T)
c.*790G>T (n.*790G>T)
c.*3326G>T (n.*3326G>T)
c.*745G>T (n.*745G>T)
c.2407G>T (p.Val803Leu)
c.241G>T (p.Val81Leu)
c.654G>T
n.2946G>T
c.2773G>T (p.Val925Leu)
c.2050G>T (p.Val684Leu)
c.601G>T (p.Val201Leu)
2g.165344796T>ACA349015733SCN2Ac.2804T>A (p.Val935Glu)
c.*1123T>A (n.*1123T>A)
c.*791T>A (n.*791T>A)
c.*3327T>A (n.*3327T>A)
c.*746T>A (n.*746T>A)
c.2408T>A (p.Val803Glu)
c.242T>A (p.Val81Glu)
c.655T>A
n.2947T>A
c.2774T>A (p.Val925Glu)
c.2051T>A (p.Val684Glu)
c.602T>A (p.Val201Glu)
2g.165344796T>CCA349015739SCN2Ac.2804T>C (p.Val935Ala)
c.*1123T>C (n.*1123T>C)
c.*791T>C (n.*791T>C)
c.*3327T>C (n.*3327T>C)
c.*746T>C (n.*746T>C)
c.2408T>C (p.Val803Ala)
c.242T>C (p.Val81Ala)
c.655T>C
n.2947T>C
c.2774T>C (p.Val925Ala)
c.2051T>C (p.Val684Ala)
c.602T>C (p.Val201Ala)
2g.165344796T>GCA349015742SCN2Ac.2804T>G (p.Val935Gly)
c.*1123T>G (n.*1123T>G)
c.*791T>G (n.*791T>G)
c.*3327T>G (n.*3327T>G)
c.*746T>G (n.*746T>G)
c.2408T>G (p.Val803Gly)
c.242T>G (p.Val81Gly)
c.655T>G
n.2947T>G
c.2774T>G (p.Val925Gly)
c.2051T>G (p.Val684Gly)
c.602T>G (p.Val201Gly)
2g.165344797G>ACA429972604SCN2Ac.2805G>A (p.Val935=)
c.*1124G>A (n.*1124G>A)
c.*792G>A (n.*792G>A)
c.*3328G>A (n.*3328G>A)
c.*747G>A (n.*747G>A)
c.2409G>A (p.Val803=)
c.243G>A (p.Val81=)
c.656G>A
n.2948G>A
c.2775G>A (p.Val925=)
c.2052G>A (p.Val684=)
c.603G>A (p.Val201=)
2g.165344797G>CCA429972607SCN2Ac.2805G>C (p.Val935=)
c.*1124G>C (n.*1124G>C)
c.*792G>C (n.*792G>C)
c.*3328G>C (n.*3328G>C)
c.*747G>C (n.*747G>C)
c.2409G>C (p.Val803=)
c.243G>C (p.Val81=)
c.656G>C
n.2948G>C
c.2775G>C (p.Val925=)
c.2052G>C (p.Val684=)
c.603G>C (p.Val201=)
2g.165344797G>TCA429972605SCN2Ac.2805G>T (p.Val935=)
c.*1124G>T (n.*1124G>T)
c.*792G>T (n.*792G>T)
c.*3328G>T (n.*3328G>T)
c.*747G>T (n.*747G>T)
c.2409G>T (p.Val803=)
c.243G>T (p.Val81=)
c.656G>T
n.2948G>T
c.2775G>T (p.Val925=)
c.2052G>T (p.Val684=)
c.603G>T (p.Val201=)
2g.165344798T>ACA349015745SCN2Ac.2806T>A (p.Phe936Ile)
c.*1125T>A (n.*1125T>A)
c.*793T>A (n.*793T>A)
c.*3329T>A (n.*3329T>A)
c.*748T>A (n.*748T>A)
c.2410T>A (p.Phe804Ile)
c.244T>A (p.Phe82Ile)
c.657T>A
n.2949T>A
c.2776T>A (p.Phe926Ile)
c.2053T>A (p.Phe685Ile)
c.604T>A (p.Phe202Ile)
2g.165344798T>CCA349015748SCN2Ac.2806T>C (p.Phe936Leu)
c.*1125T>C (n.*1125T>C)
c.*793T>C (n.*793T>C)
c.*3329T>C (n.*3329T>C)
c.*748T>C (n.*748T>C)
c.2410T>C (p.Phe804Leu)
c.244T>C (p.Phe82Leu)
c.657T>C
n.2949T>C
c.2776T>C (p.Phe926Leu)
c.2053T>C (p.Phe685Leu)
c.604T>C (p.Phe202Leu)
2g.165344798T>GCA349015751SCN2Ac.2806T>G (p.Phe936Val)
c.*1125T>G (n.*1125T>G)
c.*793T>G (n.*793T>G)
c.*3329T>G (n.*3329T>G)
c.*748T>G (n.*748T>G)
c.2410T>G (p.Phe804Val)
c.244T>G (p.Phe82Val)
c.657T>G
n.2949T>G
c.2776T>G (p.Phe926Val)
c.2053T>G (p.Phe685Val)
c.604T>G (p.Phe202Val)
 gnomAD v4
2g.165344799T>ACA349015758SCN2Ac.2807T>A (p.Phe936Tyr)
c.*1126T>A (n.*1126T>A)
c.*794T>A (n.*794T>A)
c.*3330T>A (n.*3330T>A)
c.*749T>A (n.*749T>A)
c.2411T>A (p.Phe804Tyr)
c.245T>A (p.Phe82Tyr)
c.658T>A
n.2950T>A
c.2777T>A (p.Phe926Tyr)
c.2054T>A (p.Phe685Tyr)
c.605T>A (p.Phe202Tyr)
 gnomAD v4
2g.165344799T>CCA349015756SCN2Ac.2807T>C (p.Phe936Ser)
c.*1126T>C (n.*1126T>C)
c.*794T>C (n.*794T>C)
c.*3330T>C (n.*3330T>C)
c.*749T>C (n.*749T>C)
c.2411T>C (p.Phe804Ser)
c.245T>C (p.Phe82Ser)
c.658T>C
n.2950T>C
c.2777T>C (p.Phe926Ser)
c.2054T>C (p.Phe685Ser)
c.605T>C (p.Phe202Ser)
 ClinVar
2g.165344799T>GCA349015754SCN2Ac.2807T>G (p.Phe936Cys)
c.*1126T>G (n.*1126T>G)
c.*794T>G (n.*794T>G)
c.*3330T>G (n.*3330T>G)
c.*749T>G (n.*749T>G)
c.2411T>G (p.Phe804Cys)
c.245T>G (p.Phe82Cys)
c.658T>G
n.2950T>G
c.2777T>G (p.Phe926Cys)
c.2054T>G (p.Phe685Cys)
c.605T>G (p.Phe202Cys)
2g.165344800C>ACA349015760SCN2Ac.2808C>A (p.Phe936Leu)
c.*1127C>A (n.*1127C>A)
c.*795C>A (n.*795C>A)
c.*3331C>A (n.*3331C>A)
c.*750C>A (n.*750C>A)
c.2412C>A (p.Phe804Leu)
c.246C>A (p.Phe82Leu)
c.659C>A
n.2951C>A
c.2778C>A (p.Phe926Leu)
c.2055C>A (p.Phe685Leu)
c.606C>A (p.Phe202Leu)
2g.165344800C>GCA349015763SCN2Ac.2808C>G (p.Phe936Leu)
c.*1127C>G (n.*1127C>G)
c.*795C>G (n.*795C>G)
c.*3331C>G (n.*3331C>G)
c.*750C>G (n.*750C>G)
c.2412C>G (p.Phe804Leu)
c.246C>G (p.Phe82Leu)
c.659C>G
n.2951C>G
c.2778C>G (p.Phe926Leu)
c.2055C>G (p.Phe685Leu)
c.606C>G (p.Phe202Leu)
2g.165344800C>TCA429972610SCN2Ac.2808C>T (p.Phe936=)
c.*1127C>T (n.*1127C>T)
c.*795C>T (n.*795C>T)
c.*3331C>T (n.*3331C>T)
c.*750C>T (n.*750C>T)
c.2412C>T (p.Phe804=)
c.246C>T (p.Phe82=)
c.659C>T
n.2951C>T
c.2778C>T (p.Phe926=)
c.2055C>T (p.Phe685=)
c.606C>T (p.Phe202=)
2g.165344801C>ACA349015766SCN2Ac.2809C>A (p.Arg937Ser)
c.*1128C>A (n.*1128C>A)
c.*796C>A (n.*796C>A)
c.*3332C>A (n.*3332C>A)
c.*751C>A (n.*751C>A)
c.2413C>A (p.Arg805Ser)
c.247C>A (p.Arg83Ser)
c.660C>A
n.2952C>A
c.2779C>A (p.Arg927Ser)
c.2056C>A (p.Arg686Ser)
c.607C>A (p.Arg203Ser)
2g.165344801C=CA1304545536SCN2Ac.2809C= (p.Arg937=)
c.*1128C= (n.*1128C=)
c.*796C= (n.*796C=)
c.*3332C= (n.*3332C=)
c.*751C= (n.*751C=)
c.2413C= (p.Arg805=)
c.247C= (p.Arg83=)
c.660C=
n.2952C=
c.2779C= (p.Arg927=)
c.2056C= (p.Arg686=)
c.607C= (p.Arg203=)
2g.165344801C>GCA349015772SCN2Ac.2809C>G (p.Arg937Gly)
c.*1128C>G (n.*1128C>G)
c.*796C>G (n.*796C>G)
c.*3332C>G (n.*3332C>G)
c.*751C>G (n.*751C>G)
c.2413C>G (p.Arg805Gly)
c.247C>G (p.Arg83Gly)
c.660C>G
n.2952C>G
c.2779C>G (p.Arg927Gly)
c.2056C>G (p.Arg686Gly)
c.607C>G (p.Arg203Gly)
2g.165344801C>TCA318186SCN2Ac.2809C>T (p.Arg937Cys)
c.*1128C>T (n.*1128C>T)
c.*796C>T (n.*796C>T)
c.*3332C>T (n.*3332C>T)
c.*751C>T (n.*751C>T)
c.2413C>T (p.Arg805Cys)
c.247C>T (p.Arg83Cys)
c.660C>T
n.2952C>T
c.2779C>T (p.Arg927Cys)
c.2056C>T (p.Arg686Cys)
c.607C>T (p.Arg203Cys)
 ClinVar dbSNP COSMIC COSMIC
2g.165344802G>ACA349015776SCN2Ac.2810G>A (p.Arg937His)
c.*1129G>A (n.*1129G>A)
c.*797G>A (n.*797G>A)
c.*3333G>A (n.*3333G>A)
c.*752G>A (n.*752G>A)
c.2414G>A (p.Arg805His)
c.248G>A (p.Arg83His)
c.661G>A
n.2953G>A
c.2780G>A (p.Arg927His)
c.2057G>A (p.Arg686His)
c.608G>A (p.Arg203His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.165344802G>CCA349015778SCN2Ac.2810G>C (p.Arg937Pro)
c.*1129G>C (n.*1129G>C)
c.*797G>C (n.*797G>C)
c.*3333G>C (n.*3333G>C)
c.*752G>C (n.*752G>C)
c.2414G>C (p.Arg805Pro)
c.248G>C (p.Arg83Pro)
c.661G>C
n.2953G>C
c.2780G>C (p.Arg927Pro)
c.2057G>C (p.Arg686Pro)
c.608G>C (p.Arg203Pro)
2g.165344802G=CA1304545537SCN2Ac.2810G= (p.Arg937=)
c.*1129G= (n.*1129G=)
c.*797G= (n.*797G=)
c.*3333G= (n.*3333G=)
c.*752G= (n.*752G=)
c.2414G= (p.Arg805=)
c.248G= (p.Arg83=)
c.661G=
n.2953G=
c.2780G= (p.Arg927=)
c.2057G= (p.Arg686=)
c.608G= (p.Arg203=)
2g.165344802G>TCA349015781SCN2Ac.2810G>T (p.Arg937Leu)
c.*1129G>T (n.*1129G>T)
c.*797G>T (n.*797G>T)
c.*3333G>T (n.*3333G>T)
c.*752G>T (n.*752G>T)
c.2414G>T (p.Arg805Leu)
c.248G>T (p.Arg83Leu)
c.661G>T
n.2953G>T
c.2780G>T (p.Arg927Leu)
c.2057G>T (p.Arg686Leu)
c.608G>T (p.Arg203Leu)
2g.165344803C>ACA429972614SCN2Ac.2811C>A (p.Arg937=)
c.*1130C>A (n.*1130C>A)
c.*798C>A (n.*798C>A)
c.*3334C>A (n.*3334C>A)
c.*753C>A (n.*753C>A)
c.2415C>A (p.Arg805=)
c.249C>A (p.Arg83=)
c.662C>A
n.2954C>A
c.2781C>A (p.Arg927=)
c.2058C>A (p.Arg686=)
c.609C>A (p.Arg203=)
2g.165344803C=CA1304545538SCN2Ac.2811C= (p.Arg937=)
c.*1130C= (n.*1130C=)
c.*798C= (n.*798C=)
c.*3334C= (n.*3334C=)
c.*753C= (n.*753C=)
c.2415C= (p.Arg805=)
c.249C= (p.Arg83=)
c.662C=
n.2954C=
c.2781C= (p.Arg927=)
c.2058C= (p.Arg686=)
c.609C= (p.Arg203=)
2g.165344803C>GCA429972615SCN2Ac.2811C>G (p.Arg937=)
c.*1130C>G (n.*1130C>G)
c.*798C>G (n.*798C>G)
c.*3334C>G (n.*3334C>G)
c.*753C>G (n.*753C>G)
c.2415C>G (p.Arg805=)
c.249C>G (p.Arg83=)
c.662C>G
n.2954C>G
c.2781C>G (p.Arg927=)
c.2058C>G (p.Arg686=)
c.609C>G (p.Arg203=)
2g.165344803C>TCA1940023SCN2Ac.2811C>T (p.Arg937=)
c.*1130C>T (n.*1130C>T)
c.*798C>T (n.*798C>T)
c.*3334C>T (n.*3334C>T)
c.*753C>T (n.*753C>T)
c.2415C>T (p.Arg805=)
c.249C>T (p.Arg83=)
c.662C>T
n.2954C>T
c.2781C>T (p.Arg927=)
c.2058C>T (p.Arg686=)
c.609C>T (p.Arg203=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344804G>ACA349015785SCN2Ac.2812G>A (p.Val938Met)
c.*1131G>A (n.*1131G>A)
c.*799G>A (n.*799G>A)
c.*3335G>A (n.*3335G>A)
c.*754G>A (n.*754G>A)
c.2416G>A (p.Val806Met)
c.250G>A (p.Val84Met)
c.663G>A
n.2955G>A
c.2782G>A (p.Val928Met)
c.2059G>A (p.Val687Met)
c.610G>A (p.Val204Met)
 ClinVar gnomAD v4
2g.165344804G>CCA349015786SCN2Ac.2812G>C (p.Val938Leu)
c.*1131G>C (n.*1131G>C)
c.*799G>C (n.*799G>C)
c.*3335G>C (n.*3335G>C)
c.*754G>C (n.*754G>C)
c.2416G>C (p.Val806Leu)
c.250G>C (p.Val84Leu)
c.663G>C
n.2955G>C
c.2782G>C (p.Val928Leu)
c.2059G>C (p.Val687Leu)
c.610G>C (p.Val204Leu)
2g.165344804G>TCA349015787SCN2Ac.2812G>T (p.Val938Leu)
c.*1131G>T (n.*1131G>T)
c.*799G>T (n.*799G>T)
c.*3335G>T (n.*3335G>T)
c.*754G>T (n.*754G>T)
c.2416G>T (p.Val806Leu)
c.250G>T (p.Val84Leu)
c.663G>T
n.2955G>T
c.2782G>T (p.Val928Leu)
c.2059G>T (p.Val687Leu)
c.610G>T (p.Val204Leu)
2g.165344805T>ACA349015793SCN2Ac.2813T>A (p.Val938Glu)
c.*1132T>A (n.*1132T>A)
c.*800T>A (n.*800T>A)
c.*3336T>A (n.*3336T>A)
c.*755T>A (n.*755T>A)
c.2417T>A (p.Val806Glu)
c.251T>A (p.Val84Glu)
c.664T>A
n.2956T>A
c.2783T>A (p.Val928Glu)
c.2060T>A (p.Val687Glu)
c.611T>A (p.Val204Glu)
2g.165344805T>CCA349015791SCN2Ac.2813T>C (p.Val938Ala)
c.*1132T>C (n.*1132T>C)
c.*800T>C (n.*800T>C)
c.*3336T>C (n.*3336T>C)
c.*755T>C (n.*755T>C)
c.2417T>C (p.Val806Ala)
c.251T>C (p.Val84Ala)
c.664T>C
n.2956T>C
c.2783T>C (p.Val928Ala)
c.2060T>C (p.Val687Ala)
c.611T>C (p.Val204Ala)
2g.165344805T>GCA349015788SCN2Ac.2813T>G (p.Val938Gly)
c.*1132T>G (n.*1132T>G)
c.*800T>G (n.*800T>G)
c.*3336T>G (n.*3336T>G)
c.*755T>G (n.*755T>G)
c.2417T>G (p.Val806Gly)
c.251T>G (p.Val84Gly)
c.664T>G
n.2956T>G
c.2783T>G (p.Val928Gly)
c.2060T>G (p.Val687Gly)
c.611T>G (p.Val204Gly)
2g.165344806G>ACA429972619SCN2Ac.2814G>A (p.Val938=)
c.*1133G>A (n.*1133G>A)
c.*801G>A (n.*801G>A)
c.*3337G>A (n.*3337G>A)
c.*756G>A (n.*756G>A)
c.2418G>A (p.Val806=)
c.252G>A (p.Val84=)
c.665G>A
n.2957G>A
c.2784G>A (p.Val928=)
c.2061G>A (p.Val687=)
c.612G>A (p.Val204=)
2g.165344806G>CCA429972620SCN2Ac.2814G>C (p.Val938=)
c.*1133G>C (n.*1133G>C)
c.*801G>C (n.*801G>C)
c.*3337G>C (n.*3337G>C)
c.*756G>C (n.*756G>C)
c.2418G>C (p.Val806=)
c.252G>C (p.Val84=)
c.665G>C
n.2957G>C
c.2784G>C (p.Val928=)
c.2061G>C (p.Val687=)
c.612G>C (p.Val204=)
2g.165344806G>TCA429972621SCN2Ac.2814G>T (p.Val938=)
c.*1133G>T (n.*1133G>T)
c.*801G>T (n.*801G>T)
c.*3337G>T (n.*3337G>T)
c.*756G>T (n.*756G>T)
c.2418G>T (p.Val806=)
c.252G>T (p.Val84=)
c.665G>T
n.2957G>T
c.2784G>T (p.Val928=)
c.2061G>T (p.Val687=)
c.612G>T (p.Val204=)
 gnomAD v4
2g.165344807C>ACA349015797SCN2Ac.2815C>A (p.Leu939Met)
c.*1134C>A (n.*1134C>A)
c.*802C>A (n.*802C>A)
c.*3338C>A (n.*3338C>A)
c.*757C>A (n.*757C>A)
c.2419C>A (p.Leu807Met)
c.253C>A (p.Leu85Met)
c.666C>A
n.2958C>A
c.2785C>A (p.Leu929Met)
c.2062C>A (p.Leu688Met)
c.613C>A (p.Leu205Met)
2g.165344807C>GCA349015806SCN2Ac.2815C>G (p.Leu939Val)
c.*1134C>G (n.*1134C>G)
c.*802C>G (n.*802C>G)
c.*3338C>G (n.*3338C>G)
c.*757C>G (n.*757C>G)
c.2419C>G (p.Leu807Val)
c.253C>G (p.Leu85Val)
c.666C>G
n.2958C>G
c.2785C>G (p.Leu929Val)
c.2062C>G (p.Leu688Val)
c.613C>G (p.Leu205Val)
 ClinVar
2g.165344807C>TCA429972622SCN2Ac.2815C>T (p.Leu939=)
c.*1134C>T (n.*1134C>T)
c.*802C>T (n.*802C>T)
c.*3338C>T (n.*3338C>T)
c.*757C>T (n.*757C>T)
c.2419C>T (p.Leu807=)
c.253C>T (p.Leu85=)
c.666C>T
n.2958C>T
c.2785C>T (p.Leu929=)
c.2062C>T (p.Leu688=)
c.613C>T (p.Leu205=)
 gnomAD v4 COSMIC COSMIC
2g.165344808T>ACA349015809SCN2Ac.2816T>A (p.Leu939Gln)
c.*1135T>A (n.*1135T>A)
c.*803T>A (n.*803T>A)
c.*3339T>A (n.*3339T>A)
c.*758T>A (n.*758T>A)
c.2420T>A (p.Leu807Gln)
c.254T>A (p.Leu85Gln)
c.667T>A
n.2959T>A
c.2786T>A (p.Leu929Gln)
c.2063T>A (p.Leu688Gln)
c.614T>A (p.Leu205Gln)
2g.165344808T>CCA349015810SCN2Ac.2816T>C (p.Leu939Pro)
c.*1135T>C (n.*1135T>C)
c.*803T>C (n.*803T>C)
c.*3339T>C (n.*3339T>C)
c.*758T>C (n.*758T>C)
c.2420T>C (p.Leu807Pro)
c.254T>C (p.Leu85Pro)
c.667T>C
n.2959T>C
c.2786T>C (p.Leu929Pro)
c.2063T>C (p.Leu688Pro)
c.614T>C (p.Leu205Pro)
 ClinVar
2g.165344808T>GCA349015811SCN2Ac.2816T>G (p.Leu939Arg)
c.*1135T>G (n.*1135T>G)
c.*803T>G (n.*803T>G)
c.*3339T>G (n.*3339T>G)
c.*758T>G (n.*758T>G)
c.2420T>G (p.Leu807Arg)
c.254T>G (p.Leu85Arg)
c.667T>G
n.2959T>G
c.2786T>G (p.Leu929Arg)
c.2063T>G (p.Leu688Arg)
c.614T>G (p.Leu205Arg)
2g.165344809G>ACA429972624SCN2Ac.2817G>A (p.Leu939=)
c.*1136G>A (n.*1136G>A)
c.*804G>A (n.*804G>A)
c.*3340G>A (n.*3340G>A)
c.*759G>A (n.*759G>A)
c.2421G>A (p.Leu807=)
c.255G>A (p.Leu85=)
c.668G>A
n.2960G>A
c.2787G>A (p.Leu929=)
c.2064G>A (p.Leu688=)
c.615G>A (p.Leu205=)
2g.165344809G>CCA429972625SCN2Ac.2817G>C (p.Leu939=)
c.*1136G>C (n.*1136G>C)
c.*804G>C (n.*804G>C)
c.*3340G>C (n.*3340G>C)
c.*759G>C (n.*759G>C)
c.2421G>C (p.Leu807=)
c.255G>C (p.Leu85=)
c.668G>C
n.2960G>C
c.2787G>C (p.Leu929=)
c.2064G>C (p.Leu688=)
c.615G>C (p.Leu205=)
 gnomAD v4
2g.165344809G>TCA429972626SCN2Ac.2817G>T (p.Leu939=)
c.*1136G>T (n.*1136G>T)
c.*804G>T (n.*804G>T)
c.*3340G>T (n.*3340G>T)
c.*759G>T (n.*759G>T)
c.2421G>T (p.Leu807=)
c.255G>T (p.Leu85=)
c.668G>T
n.2960G>T
c.2787G>T (p.Leu929=)
c.2064G>T (p.Leu688=)
c.615G>T (p.Leu205=)
2g.165344810T>ACA349015812SCN2Ac.2818T>A (p.Cys940Ser)
c.*1137T>A (n.*1137T>A)
c.*805T>A (n.*805T>A)
c.*3341T>A (n.*3341T>A)
c.*760T>A (n.*760T>A)
c.2422T>A (p.Cys808Ser)
c.256T>A (p.Cys86Ser)
c.669T>A
n.2961T>A
c.2788T>A (p.Cys930Ser)
c.2065T>A (p.Cys689Ser)
c.616T>A (p.Cys206Ser)
2g.165344810T>CCA349015813SCN2Ac.2818T>C (p.Cys940Arg)
c.*1137T>C (n.*1137T>C)
c.*805T>C (n.*805T>C)
c.*3341T>C (n.*3341T>C)
c.*760T>C (n.*760T>C)
c.2422T>C (p.Cys808Arg)
c.256T>C (p.Cys86Arg)
c.669T>C
n.2961T>C
c.2788T>C (p.Cys930Arg)
c.2065T>C (p.Cys689Arg)
c.616T>C (p.Cys206Arg)
2g.165344810T>GCA349015817SCN2Ac.2818T>G (p.Cys940Gly)
c.*1137T>G (n.*1137T>G)
c.*805T>G (n.*805T>G)
c.*3341T>G (n.*3341T>G)
c.*760T>G (n.*760T>G)
c.2422T>G (p.Cys808Gly)
c.256T>G (p.Cys86Gly)
c.669T>G
n.2961T>G
c.2788T>G (p.Cys930Gly)
c.2065T>G (p.Cys689Gly)
c.616T>G (p.Cys206Gly)
2g.165344811G>ACA349015820SCN2Ac.2819G>A (p.Cys940Tyr)
c.*1138G>A (n.*1138G>A)
c.*806G>A (n.*806G>A)
c.*3342G>A (n.*3342G>A)
c.*761G>A (n.*761G>A)
c.2423G>A (p.Cys808Tyr)
c.257G>A (p.Cys86Tyr)
c.670G>A
n.2962G>A
c.2789G>A (p.Cys930Tyr)
c.2066G>A (p.Cys689Tyr)
c.617G>A (p.Cys206Tyr)
 ClinVar
2g.165344811G>CCA349015824SCN2Ac.2819G>C (p.Cys940Ser)
c.*1138G>C (n.*1138G>C)
c.*806G>C (n.*806G>C)
c.*3342G>C (n.*3342G>C)
c.*761G>C (n.*761G>C)
c.2423G>C (p.Cys808Ser)
c.257G>C (p.Cys86Ser)
c.670G>C
n.2962G>C
c.2789G>C (p.Cys930Ser)
c.2066G>C (p.Cys689Ser)
c.617G>C (p.Cys206Ser)
2g.165344811G>TCA349015830SCN2Ac.2819G>T (p.Cys940Phe)
c.*1138G>T (n.*1138G>T)
c.*806G>T (n.*806G>T)
c.*3342G>T (n.*3342G>T)
c.*761G>T (n.*761G>T)
c.2423G>T (p.Cys808Phe)
c.257G>T (p.Cys86Phe)
c.670G>T
n.2962G>T
c.2789G>T (p.Cys930Phe)
c.2066G>T (p.Cys689Phe)
c.617G>T (p.Cys206Phe)
2g.165344812T>ACA349015834SCN2Ac.2820T>A (p.Cys940Ter)
c.*1139T>A (n.*1139T>A)
c.*807T>A (n.*807T>A)
c.*3343T>A (n.*3343T>A)
c.*762T>A (n.*762T>A)
c.2424T>A (p.Cys808Ter)
c.258T>A (p.Cys86Ter)
c.671T>A
n.2963T>A
c.2790T>A (p.Cys930Ter)
c.2067T>A (p.Cys689Ter)
c.618T>A (p.Cys206Ter)
 dbSNP
2g.165344812T>CCA429972628SCN2Ac.2820T>C (p.Cys940=)
c.*1139T>C (n.*1139T>C)
c.*807T>C (n.*807T>C)
c.*3343T>C (n.*3343T>C)
c.*762T>C (n.*762T>C)
c.2424T>C (p.Cys808=)
c.258T>C (p.Cys86=)
c.671T>C
n.2963T>C
c.2790T>C (p.Cys930=)
c.2067T>C (p.Cys689=)
c.618T>C (p.Cys206=)
 dbSNP gnomAD v4
2g.165344812T>GCA349015836SCN2Ac.2820T>G (p.Cys940Trp)
c.*1139T>G (n.*1139T>G)
c.*807T>G (n.*807T>G)
c.*3343T>G (n.*3343T>G)
c.*762T>G (n.*762T>G)
c.2424T>G (p.Cys808Trp)
c.258T>G (p.Cys86Trp)
c.671T>G
n.2963T>G
c.2790T>G (p.Cys930Trp)
c.2067T>G (p.Cys689Trp)
c.618T>G (p.Cys206Trp)
2g.165344812T=CA1304545539SCN2Ac.2820T= (p.Cys940=)
c.*1139T= (n.*1139T=)
c.*807T= (n.*807T=)
c.*3343T= (n.*3343T=)
c.*762T= (n.*762T=)
c.2424T= (p.Cys808=)
c.258T= (p.Cys86=)
c.671T=
n.2963T=
c.2790T= (p.Cys930=)
c.2067T= (p.Cys689=)
c.618T= (p.Cys206=)
2g.165344813G>ACA349015844SCN2Ac.2821G>A (p.Gly941Arg)
c.*1140G>A (n.*1140G>A)
c.*808G>A (n.*808G>A)
c.*3344G>A (n.*3344G>A)
c.*763G>A (n.*763G>A)
c.2425G>A (p.Gly809Arg)
c.259G>A (p.Gly87Arg)
c.672G>A
n.2964G>A
c.2791G>A (p.Gly931Arg)
c.2068G>A (p.Gly690Arg)
c.619G>A (p.Gly207Arg)
 ClinVar gnomAD v4 COSMIC COSMIC
2g.165344813G>CCA349015840SCN2Ac.2821G>C (p.Gly941Arg)
c.*1140G>C (n.*1140G>C)
c.*808G>C (n.*808G>C)
c.*3344G>C (n.*3344G>C)
c.*763G>C (n.*763G>C)
c.2425G>C (p.Gly809Arg)
c.259G>C (p.Gly87Arg)
c.672G>C
n.2964G>C
c.2791G>C (p.Gly931Arg)
c.2068G>C (p.Gly690Arg)
c.619G>C (p.Gly207Arg)
2g.165344813G=CA1304545540SCN2Ac.2821G= (p.Gly941=)
c.*1140G= (n.*1140G=)
c.*808G= (n.*808G=)
c.*3344G= (n.*3344G=)
c.*763G= (n.*763G=)
c.2425G= (p.Gly809=)
c.259G= (p.Gly87=)
c.672G=
n.2964G=
c.2791G= (p.Gly931=)
c.2068G= (p.Gly690=)
c.619G= (p.Gly207=)
2g.165344813G>TCA349015842SCN2Ac.2821G>T (p.Gly941Ter)
c.*1140G>T (n.*1140G>T)
c.*808G>T (n.*808G>T)
c.*3344G>T (n.*3344G>T)
c.*763G>T (n.*763G>T)
c.2425G>T (p.Gly809Ter)
c.259G>T (p.Gly87Ter)
c.672G>T
n.2964G>T
c.2791G>T (p.Gly931Ter)
c.2068G>T (p.Gly690Ter)
c.619G>T (p.Gly207Ter)
 dbSNP
2g.165344814G>ACA349015847SCN2Ac.2822G>A (p.Gly941Glu)
c.*1141G>A (n.*1141G>A)
c.*809G>A (n.*809G>A)
c.*3345G>A (n.*3345G>A)
c.*764G>A (n.*764G>A)
c.2426G>A (p.Gly809Glu)
c.260G>A (p.Gly87Glu)
c.673G>A
n.2965G>A
c.2792G>A (p.Gly931Glu)
c.2069G>A (p.Gly690Glu)
c.620G>A (p.Gly207Glu)
2g.165344814G>CCA349015854SCN2Ac.2822G>C (p.Gly941Ala)
c.*1141G>C (n.*1141G>C)
c.*809G>C (n.*809G>C)
c.*3345G>C (n.*3345G>C)
c.*764G>C (n.*764G>C)
c.2426G>C (p.Gly809Ala)
c.260G>C (p.Gly87Ala)
c.673G>C
n.2965G>C
c.2792G>C (p.Gly931Ala)
c.2069G>C (p.Gly690Ala)
c.620G>C (p.Gly207Ala)
2g.165344814G=CA1304545541SCN2Ac.2822G= (p.Gly941=)
c.*1141G= (n.*1141G=)
c.*809G= (n.*809G=)
c.*3345G= (n.*3345G=)
c.*764G= (n.*764G=)
c.2426G= (p.Gly809=)
c.260G= (p.Gly87=)
c.673G=
n.2965G=
c.2792G= (p.Gly931=)
c.2069G= (p.Gly690=)
c.620G= (p.Gly207=)
2g.165344814G>TCA349015857SCN2Ac.2822G>T (p.Gly941Val)
c.*1141G>T (n.*1141G>T)
c.*809G>T (n.*809G>T)
c.*3345G>T (n.*3345G>T)
c.*764G>T (n.*764G>T)
c.2426G>T (p.Gly809Val)
c.260G>T (p.Gly87Val)
c.673G>T
n.2965G>T
c.2792G>T (p.Gly931Val)
c.2069G>T (p.Gly690Val)
c.620G>T (p.Gly207Val)
2g.165344815A=CA1304545542SCN2Ac.2823A= (p.Gly941=)
c.*1142A= (n.*1142A=)
c.*810A= (n.*810A=)
c.*3346A= (n.*3346A=)
c.*765A= (n.*765A=)
c.2427A= (p.Gly809=)
c.261A= (p.Gly87=)
c.674A=
n.2966A=
c.2793A= (p.Gly931=)
c.2070A= (p.Gly690=)
c.621A= (p.Gly207=)
2g.165344815A>CCA429972629SCN2Ac.2823A>C (p.Gly941=)
c.*1142A>C (n.*1142A>C)
c.*810A>C (n.*810A>C)
c.*3346A>C (n.*3346A>C)
c.*765A>C (n.*765A>C)
c.2427A>C (p.Gly809=)
c.261A>C (p.Gly87=)
c.674A>C
n.2966A>C
c.2793A>C (p.Gly931=)
c.2070A>C (p.Gly690=)
c.621A>C (p.Gly207=)
2g.165344815A>GCA429972630SCN2Ac.2823A>G (p.Gly941=)
c.*1142A>G (n.*1142A>G)
c.*810A>G (n.*810A>G)
c.*3346A>G (n.*3346A>G)
c.*765A>G (n.*765A>G)
c.2427A>G (p.Gly809=)
c.261A>G (p.Gly87=)
c.674A>G
n.2966A>G
c.2793A>G (p.Gly931=)
c.2070A>G (p.Gly690=)
c.621A>G (p.Gly207=)
 dbSNP
2g.165344815A>TCA429972631SCN2Ac.2823A>T (p.Gly941=)
c.*1142A>T (n.*1142A>T)
c.*810A>T (n.*810A>T)
c.*3346A>T (n.*3346A>T)
c.*765A>T (n.*765A>T)
c.2427A>T (p.Gly809=)
c.261A>T (p.Gly87=)
c.674A>T
n.2966A>T
c.2793A>T (p.Gly931=)
c.2070A>T (p.Gly690=)
c.621A>T (p.Gly207=)
2g.165344815dupCA16617266SCN2Ac.2823dup (p.Glu942ArgfsTer?)
c.*1142dup (n.*1142dup)
c.*810dup (n.*810dup)
c.*3346dup (n.*3346dup)
c.*765dup (n.*765dup)
c.2427dup (p.Glu810ArgfsTer?)
c.261dup (p.Glu88ArgfsTer?)
c.674dup
n.2966dup
c.2793dup (p.Glu932ArgfsTer?)
c.2070dup (p.Glu691ArgfsTer?)
c.621dup (p.Glu208ArgfsTer?)
 ClinVar dbSNP
2g.165344816G>ACA349015859SCN2Ac.2824G>A (p.Glu942Lys)
c.*1143G>A (n.*1143G>A)
c.*811G>A (n.*811G>A)
c.*3347G>A (n.*3347G>A)
c.*766G>A (n.*766G>A)
c.2428G>A (p.Glu810Lys)
c.262G>A (p.Glu88Lys)
c.675G>A
n.2967G>A
c.2794G>A (p.Glu932Lys)
c.2071G>A (p.Glu691Lys)
c.622G>A (p.Glu208Lys)
2g.165344816G>CCA349015861SCN2Ac.2824G>C (p.Glu942Gln)
c.*1143G>C (n.*1143G>C)
c.*811G>C (n.*811G>C)
c.*3347G>C (n.*3347G>C)
c.*766G>C (n.*766G>C)
c.2428G>C (p.Glu810Gln)
c.262G>C (p.Glu88Gln)
c.675G>C
n.2967G>C
c.2794G>C (p.Glu932Gln)
c.2071G>C (p.Glu691Gln)
c.622G>C (p.Glu208Gln)
2g.165344816G=CA1304545543SCN2Ac.2824G= (p.Glu942=)
c.*1143G= (n.*1143G=)
c.*811G= (n.*811G=)
c.*3347G= (n.*3347G=)
c.*766G= (n.*766G=)
c.2428G= (p.Glu810=)
c.262G= (p.Glu88=)
c.675G=
n.2967G=
c.2794G= (p.Glu932=)
c.2071G= (p.Glu691=)
c.622G= (p.Glu208=)
2g.165344816G>TCA349015863SCN2Ac.2824G>T (p.Glu942Ter)
c.*1143G>T (n.*1143G>T)
c.*811G>T (n.*811G>T)
c.*3347G>T (n.*3347G>T)
c.*766G>T (n.*766G>T)
c.2428G>T (p.Glu810Ter)
c.262G>T (p.Glu88Ter)
c.675G>T
n.2967G>T
c.2794G>T (p.Glu932Ter)
c.2071G>T (p.Glu691Ter)
c.622G>T (p.Glu208Ter)
 dbSNP
2g.165344817A>CCA349015867SCN2Ac.2825A>C (p.Glu942Ala)
c.*1144A>C (n.*1144A>C)
c.*812A>C (n.*812A>C)
c.*3348A>C (n.*3348A>C)
c.*767A>C (n.*767A>C)
c.2429A>C (p.Glu810Ala)
c.263A>C (p.Glu88Ala)
c.676A>C
n.2968A>C
c.2795A>C (p.Glu932Ala)
c.2072A>C (p.Glu691Ala)
c.623A>C (p.Glu208Ala)
2g.165344817A>GCA349015868SCN2Ac.2825A>G (p.Glu942Gly)
c.*1144A>G (n.*1144A>G)
c.*812A>G (n.*812A>G)
c.*3348A>G (n.*3348A>G)
c.*767A>G (n.*767A>G)
c.2429A>G (p.Glu810Gly)
c.263A>G (p.Glu88Gly)
c.676A>G
n.2968A>G
c.2795A>G (p.Glu932Gly)
c.2072A>G (p.Glu691Gly)
c.623A>G (p.Glu208Gly)
2g.165344817A>TCA349015869SCN2Ac.2825A>T (p.Glu942Val)
c.*1144A>T (n.*1144A>T)
c.*812A>T (n.*812A>T)
c.*3348A>T (n.*3348A>T)
c.*767A>T (n.*767A>T)
c.2429A>T (p.Glu810Val)
c.263A>T (p.Glu88Val)
c.676A>T
n.2968A>T
c.2795A>T (p.Glu932Val)
c.2072A>T (p.Glu691Val)
c.623A>T (p.Glu208Val)
2g.165344818G>ACA1940024SCN2Ac.2826G>A (p.Glu942=)
c.*1145G>A (n.*1145G>A)
c.*813G>A (n.*813G>A)
c.*3349G>A (n.*3349G>A)
c.*768G>A (n.*768G>A)
c.2430G>A (p.Glu810=)
c.264G>A (p.Glu88=)
c.677G>A
n.2969G>A
c.2796G>A (p.Glu932=)
c.2073G>A (p.Glu691=)
c.624G>A (p.Glu208=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344818G>CCA349015874SCN2Ac.2826G>C (p.Glu942Asp)
c.*1145G>C (n.*1145G>C)
c.*813G>C (n.*813G>C)
c.*3349G>C (n.*3349G>C)
c.*768G>C (n.*768G>C)
c.2430G>C (p.Glu810Asp)
c.264G>C (p.Glu88Asp)
c.677G>C
n.2969G>C
c.2796G>C (p.Glu932Asp)
c.2073G>C (p.Glu691Asp)
c.624G>C (p.Glu208Asp)
2g.165344818G=CA1304545544SCN2Ac.2826G= (p.Glu942=)
c.*1145G= (n.*1145G=)
c.*813G= (n.*813G=)
c.*3349G= (n.*3349G=)
c.*768G= (n.*768G=)
c.2430G= (p.Glu810=)
c.264G= (p.Glu88=)
c.677G=
n.2969G=
c.2796G= (p.Glu932=)
c.2073G= (p.Glu691=)
c.624G= (p.Glu208=)
2g.165344818G>TCA349015876SCN2Ac.2826G>T (p.Glu942Asp)
c.*1145G>T (n.*1145G>T)
c.*813G>T (n.*813G>T)
c.*3349G>T (n.*3349G>T)
c.*768G>T (n.*768G>T)
c.2430G>T (p.Glu810Asp)
c.264G>T (p.Glu88Asp)
c.677G>T
n.2969G>T
c.2796G>T (p.Glu932Asp)
c.2073G>T (p.Glu691Asp)
c.624G>T (p.Glu208Asp)
2g.165344819T>ACA349015883SCN2Ac.2827T>A (p.Trp943Arg)
c.*1146T>A (n.*1146T>A)
c.*814T>A (n.*814T>A)
c.*3350T>A (n.*3350T>A)
c.*769T>A (n.*769T>A)
c.2431T>A (p.Trp811Arg)
c.265T>A (p.Trp89Arg)
c.678T>A
n.2970T>A
c.2797T>A (p.Trp933Arg)
c.2074T>A (p.Trp692Arg)
c.625T>A (p.Trp209Arg)
2g.165344819T>CCA349015886SCN2Ac.2827T>C (p.Trp943Arg)
c.*1146T>C (n.*1146T>C)
c.*814T>C (n.*814T>C)
c.*3350T>C (n.*3350T>C)
c.*769T>C (n.*769T>C)
c.2431T>C (p.Trp811Arg)
c.265T>C (p.Trp89Arg)
c.678T>C
n.2970T>C
c.2797T>C (p.Trp933Arg)
c.2074T>C (p.Trp692Arg)
c.625T>C (p.Trp209Arg)
2g.165344819T>GCA349015879SCN2Ac.2827T>G (p.Trp943Gly)
c.*1146T>G (n.*1146T>G)
c.*814T>G (n.*814T>G)
c.*3350T>G (n.*3350T>G)
c.*769T>G (n.*769T>G)
c.2431T>G (p.Trp811Gly)
c.265T>G (p.Trp89Gly)
c.678T>G
n.2970T>G
c.2797T>G (p.Trp933Gly)
c.2074T>G (p.Trp692Gly)
c.625T>G (p.Trp209Gly)
2g.165344820G>ACA349015897SCN2Ac.2828G>A (p.Trp943Ter)
c.*1147G>A (n.*1147G>A)
c.*815G>A (n.*815G>A)
c.*3351G>A (n.*3351G>A)
c.*770G>A (n.*770G>A)
c.2432G>A (p.Trp811Ter)
c.266G>A (p.Trp89Ter)
c.679G>A
n.2971G>A
c.2798G>A (p.Trp933Ter)
c.2075G>A (p.Trp692Ter)
c.626G>A (p.Trp209Ter)
 dbSNP
2g.165344820G>CCA349015889SCN2Ac.2828G>C (p.Trp943Ser)
c.*1147G>C (n.*1147G>C)
c.*815G>C (n.*815G>C)
c.*3351G>C (n.*3351G>C)
c.*770G>C (n.*770G>C)
c.2432G>C (p.Trp811Ser)
c.266G>C (p.Trp89Ser)
c.679G>C
n.2971G>C
c.2798G>C (p.Trp933Ser)
c.2075G>C (p.Trp692Ser)
c.626G>C (p.Trp209Ser)
2g.165344820G=CA1304545545SCN2Ac.2828G= (p.Trp943=)
c.*1147G= (n.*1147G=)
c.*815G= (n.*815G=)
c.*3351G= (n.*3351G=)
c.*770G= (n.*770G=)
c.2432G= (p.Trp811=)
c.266G= (p.Trp89=)
c.679G=
n.2971G=
c.2798G= (p.Trp933=)
c.2075G= (p.Trp692=)
c.626G= (p.Trp209=)
2g.165344820G>TCA349015893SCN2Ac.2828G>T (p.Trp943Leu)
c.*1147G>T (n.*1147G>T)
c.*815G>T (n.*815G>T)
c.*3351G>T (n.*3351G>T)
c.*770G>T (n.*770G>T)
c.2432G>T (p.Trp811Leu)
c.266G>T (p.Trp89Leu)
c.679G>T
n.2971G>T
c.2798G>T (p.Trp933Leu)
c.2075G>T (p.Trp692Leu)
c.626G>T (p.Trp209Leu)
2g.165344821G>ACA349015900SCN2Ac.2829G>A (p.Trp943Ter)
c.*1148G>A (n.*1148G>A)
c.*816G>A (n.*816G>A)
c.*3352G>A (n.*3352G>A)
c.*771G>A (n.*771G>A)
c.2433G>A (p.Trp811Ter)
c.267G>A (p.Trp89Ter)
c.680G>A
n.2972G>A
c.2799G>A (p.Trp933Ter)
c.2076G>A (p.Trp692Ter)
c.627G>A (p.Trp209Ter)
 dbSNP
2g.165344821G>CCA349015902SCN2Ac.2829G>C (p.Trp943Cys)
c.*1148G>C (n.*1148G>C)
c.*816G>C (n.*816G>C)
c.*3352G>C (n.*3352G>C)
c.*771G>C (n.*771G>C)
c.2433G>C (p.Trp811Cys)
c.267G>C (p.Trp89Cys)
c.680G>C
n.2972G>C
c.2799G>C (p.Trp933Cys)
c.2076G>C (p.Trp692Cys)
c.627G>C (p.Trp209Cys)
2g.165344821G=CA1304545546SCN2Ac.2829G= (p.Trp943=)
c.*1148G= (n.*1148G=)
c.*816G= (n.*816G=)
c.*3352G= (n.*3352G=)
c.*771G= (n.*771G=)
c.2433G= (p.Trp811=)
c.267G= (p.Trp89=)
c.680G=
n.2972G=
c.2799G= (p.Trp933=)
c.2076G= (p.Trp692=)
c.627G= (p.Trp209=)
2g.165344821G>TCA349015906SCN2Ac.2829G>T (p.Trp943Cys)
c.*1148G>T (n.*1148G>T)
c.*816G>T (n.*816G>T)
c.*3352G>T (n.*3352G>T)
c.*771G>T (n.*771G>T)
c.2433G>T (p.Trp811Cys)
c.267G>T (p.Trp89Cys)
c.680G>T
n.2972G>T
c.2799G>T (p.Trp933Cys)
c.2076G>T (p.Trp692Cys)
c.627G>T (p.Trp209Cys)
2g.165344822A>CCA349015910SCN2Ac.2830A>C (p.Ile944Leu)
c.*1149A>C (n.*1149A>C)
c.*817A>C (n.*817A>C)
c.*3353A>C (n.*3353A>C)
c.*772A>C (n.*772A>C)
c.2434A>C (p.Ile812Leu)
c.268A>C (p.Ile90Leu)
c.681A>C
n.2973A>C
c.2800A>C (p.Ile934Leu)
c.2077A>C (p.Ile693Leu)
c.628A>C (p.Ile210Leu)
2g.165344822A>GCA349015912SCN2Ac.2830A>G (p.Ile944Val)
c.*1149A>G (n.*1149A>G)
c.*817A>G (n.*817A>G)
c.*3353A>G (n.*3353A>G)
c.*772A>G (n.*772A>G)
c.2434A>G (p.Ile812Val)
c.268A>G (p.Ile90Val)
c.681A>G
n.2973A>G
c.2800A>G (p.Ile934Val)
c.2077A>G (p.Ile693Val)
c.628A>G (p.Ile210Val)
2g.165344822A>TCA349015915SCN2Ac.2830A>T (p.Ile944Leu)
c.*1149A>T (n.*1149A>T)
c.*817A>T (n.*817A>T)
c.*3353A>T (n.*3353A>T)
c.*772A>T (n.*772A>T)
c.2434A>T (p.Ile812Leu)
c.268A>T (p.Ile90Leu)
c.681A>T
n.2973A>T
c.2800A>T (p.Ile934Leu)
c.2077A>T (p.Ile693Leu)
c.628A>T (p.Ile210Leu)
2g.165344823T>ACA349015919SCN2Ac.2831T>A (p.Ile944Lys)
c.*1150T>A (n.*1150T>A)
c.*818T>A (n.*818T>A)
c.*3354T>A (n.*3354T>A)
c.*773T>A (n.*773T>A)
c.2435T>A (p.Ile812Lys)
c.269T>A (p.Ile90Lys)
c.682T>A
n.2974T>A
c.2801T>A (p.Ile934Lys)
c.2078T>A (p.Ile693Lys)
c.629T>A (p.Ile210Lys)
2g.165344823T>CCA349015922SCN2Ac.2831T>C (p.Ile944Thr)
c.*1150T>C (n.*1150T>C)
c.*818T>C (n.*818T>C)
c.*3354T>C (n.*3354T>C)
c.*773T>C (n.*773T>C)
c.2435T>C (p.Ile812Thr)
c.269T>C (p.Ile90Thr)
c.682T>C
n.2974T>C
c.2801T>C (p.Ile934Thr)
c.2078T>C (p.Ile693Thr)
c.629T>C (p.Ile210Thr)
 gnomAD v4
2g.165344823T>GCA349015931SCN2Ac.2831T>G (p.Ile944Arg)
c.*1150T>G (n.*1150T>G)
c.*818T>G (n.*818T>G)
c.*3354T>G (n.*3354T>G)
c.*773T>G (n.*773T>G)
c.2435T>G (p.Ile812Arg)
c.269T>G (p.Ile90Arg)
c.682T>G
n.2974T>G
c.2801T>G (p.Ile934Arg)
c.2078T>G (p.Ile693Arg)
c.629T>G (p.Ile210Arg)
2g.165344824A=CA1304545547SCN2Ac.2832A= (p.Ile944=)
c.*1151A= (n.*1151A=)
c.*819A= (n.*819A=)
c.*3355A= (n.*3355A=)
c.*774A= (n.*774A=)
c.2436A= (p.Ile812=)
c.270A= (p.Ile90=)
c.683A=
n.2975A=
c.2802A= (p.Ile934=)
c.2079A= (p.Ile693=)
c.630A= (p.Ile210=)
2g.165344824A>CCA429972640SCN2Ac.2832A>C (p.Ile944=)
c.*1151A>C (n.*1151A>C)
c.*819A>C (n.*819A>C)
c.*3355A>C (n.*3355A>C)
c.*774A>C (n.*774A>C)
c.2436A>C (p.Ile812=)
c.270A>C (p.Ile90=)
c.683A>C
n.2975A>C
c.2802A>C (p.Ile934=)
c.2079A>C (p.Ile693=)
c.630A>C (p.Ile210=)
2g.165344824A>GCA59720128SCN2Ac.2832A>G (p.Ile944Met)
c.*1151A>G (n.*1151A>G)
c.*819A>G (n.*819A>G)
c.*3355A>G (n.*3355A>G)
c.*774A>G (n.*774A>G)
c.2436A>G (p.Ile812Met)
c.270A>G (p.Ile90Met)
c.683A>G
n.2975A>G
c.2802A>G (p.Ile934Met)
c.2079A>G (p.Ile693Met)
c.630A>G (p.Ile210Met)
 dbSNP
2g.165344824A>TCA429972639SCN2Ac.2832A>T (p.Ile944=)
c.*1151A>T (n.*1151A>T)
c.*819A>T (n.*819A>T)
c.*3355A>T (n.*3355A>T)
c.*774A>T (n.*774A>T)
c.2436A>T (p.Ile812=)
c.270A>T (p.Ile90=)
c.683A>T
n.2975A>T
c.2802A>T (p.Ile934=)
c.2079A>T (p.Ile693=)
c.630A>T (p.Ile210=)
2g.165344825G>ACA1940025SCN2Ac.2833G>A (p.Glu945Lys)
c.*1152G>A (n.*1152G>A)
c.*820G>A (n.*820G>A)
c.*3356G>A (n.*3356G>A)
c.*775G>A (n.*775G>A)
c.2437G>A (p.Glu813Lys)
c.271G>A (p.Glu91Lys)
c.684G>A
n.2976G>A
c.2803G>A (p.Glu935Lys)
c.2080G>A (p.Glu694Lys)
c.631G>A (p.Glu211Lys)
 dbSNP ExAC gnomAD v2
2g.165344825G>CCA349015946SCN2Ac.2833G>C (p.Glu945Gln)
c.*1152G>C (n.*1152G>C)
c.*820G>C (n.*820G>C)
c.*3356G>C (n.*3356G>C)
c.*775G>C (n.*775G>C)
c.2437G>C (p.Glu813Gln)
c.271G>C (p.Glu91Gln)
c.684G>C
n.2976G>C
c.2803G>C (p.Glu935Gln)
c.2080G>C (p.Glu694Gln)
c.631G>C (p.Glu211Gln)
2g.165344825G=CA1304545548SCN2Ac.2833G= (p.Glu945=)
c.*1152G= (n.*1152G=)
c.*820G= (n.*820G=)
c.*3356G= (n.*3356G=)
c.*775G= (n.*775G=)
c.2437G= (p.Glu813=)
c.271G= (p.Glu91=)
c.684G=
n.2976G=
c.2803G= (p.Glu935=)
c.2080G= (p.Glu694=)
c.631G= (p.Glu211=)
2g.165344825G>TCA349015950SCN2Ac.2833G>T (p.Glu945Ter)
c.*1152G>T (n.*1152G>T)
c.*820G>T (n.*820G>T)
c.*3356G>T (n.*3356G>T)
c.*775G>T (n.*775G>T)
c.2437G>T (p.Glu813Ter)
c.271G>T (p.Glu91Ter)
c.684G>T
n.2976G>T
c.2803G>T (p.Glu935Ter)
c.2080G>T (p.Glu694Ter)
c.631G>T (p.Glu211Ter)
 dbSNP COSMIC COSMIC
2g.165344826A>CCA349015954SCN2Ac.2834A>C (p.Glu945Ala)
c.*1153A>C (n.*1153A>C)
c.*821A>C (n.*821A>C)
c.*3357A>C (n.*3357A>C)
c.*776A>C (n.*776A>C)
c.2438A>C (p.Glu813Ala)
c.272A>C (p.Glu91Ala)
c.685A>C
n.2977A>C
c.2804A>C (p.Glu935Ala)
c.2081A>C (p.Glu694Ala)
c.632A>C (p.Glu211Ala)
2g.165344826A>GCA349015955SCN2Ac.2834A>G (p.Glu945Gly)
c.*1153A>G (n.*1153A>G)
c.*821A>G (n.*821A>G)
c.*3357A>G (n.*3357A>G)
c.*776A>G (n.*776A>G)
c.2438A>G (p.Glu813Gly)
c.272A>G (p.Glu91Gly)
c.685A>G
n.2977A>G
c.2804A>G (p.Glu935Gly)
c.2081A>G (p.Glu694Gly)
c.632A>G (p.Glu211Gly)
2g.165344826A>TCA349015960SCN2Ac.2834A>T (p.Glu945Val)
c.*1153A>T (n.*1153A>T)
c.*821A>T (n.*821A>T)
c.*3357A>T (n.*3357A>T)
c.*776A>T (n.*776A>T)
c.2438A>T (p.Glu813Val)
c.272A>T (p.Glu91Val)
c.685A>T
n.2977A>T
c.2804A>T (p.Glu935Val)
c.2081A>T (p.Glu694Val)
c.632A>T (p.Glu211Val)
2g.165344827G>ACA429972641SCN2Ac.2835G>A (p.Glu945=)
c.*1154G>A (n.*1154G>A)
c.*822G>A (n.*822G>A)
c.*3358G>A (n.*3358G>A)
c.*777G>A (n.*777G>A)
c.2439G>A (p.Glu813=)
c.273G>A (p.Glu91=)
c.686G>A
n.2978G>A
c.2805G>A (p.Glu935=)
c.2082G>A (p.Glu694=)
c.633G>A (p.Glu211=)
2g.165344827G>CCA349015964SCN2Ac.2835G>C (p.Glu945Asp)
c.*1154G>C (n.*1154G>C)
c.*822G>C (n.*822G>C)
c.*3358G>C (n.*3358G>C)
c.*777G>C (n.*777G>C)
c.2439G>C (p.Glu813Asp)
c.273G>C (p.Glu91Asp)
c.686G>C
n.2978G>C
c.2805G>C (p.Glu935Asp)
c.2082G>C (p.Glu694Asp)
c.633G>C (p.Glu211Asp)
2g.165344827G>TCA349015966SCN2Ac.2835G>T (p.Glu945Asp)
c.*1154G>T (n.*1154G>T)
c.*822G>T (n.*822G>T)
c.*3358G>T (n.*3358G>T)
c.*777G>T (n.*777G>T)
c.2439G>T (p.Glu813Asp)
c.273G>T (p.Glu91Asp)
c.686G>T
n.2978G>T
c.2805G>T (p.Glu935Asp)
c.2082G>T (p.Glu694Asp)
c.633G>T (p.Glu211Asp)
2g.165344828A>CCA349015970SCN2Ac.2836A>C (p.Thr946Pro)
c.*1155A>C (n.*1155A>C)
c.*823A>C (n.*823A>C)
c.*3359A>C (n.*3359A>C)
c.*778A>C (n.*778A>C)
c.2440A>C (p.Thr814Pro)
c.274A>C (p.Thr92Pro)
c.687A>C
n.2979A>C
c.2806A>C (p.Thr936Pro)
c.2083A>C (p.Thr695Pro)
c.634A>C (p.Thr212Pro)
2g.165344828A>GCA349015974SCN2Ac.2836A>G (p.Thr946Ala)
c.*1155A>G (n.*1155A>G)
c.*823A>G (n.*823A>G)
c.*3359A>G (n.*3359A>G)
c.*778A>G (n.*778A>G)
c.2440A>G (p.Thr814Ala)
c.274A>G (p.Thr92Ala)
c.687A>G
n.2979A>G
c.2806A>G (p.Thr936Ala)
c.2083A>G (p.Thr695Ala)
c.634A>G (p.Thr212Ala)
2g.165344828A>TCA349015978SCN2Ac.2836A>T (p.Thr946Ser)
c.*1155A>T (n.*1155A>T)
c.*823A>T (n.*823A>T)
c.*3359A>T (n.*3359A>T)
c.*778A>T (n.*778A>T)
c.2440A>T (p.Thr814Ser)
c.274A>T (p.Thr92Ser)
c.687A>T
n.2979A>T
c.2806A>T (p.Thr936Ser)
c.2083A>T (p.Thr695Ser)
c.634A>T (p.Thr212Ser)
2g.165344829C>ACA349015994SCN2Ac.2837C>A (p.Thr946Asn)
c.*1156C>A (n.*1156C>A)
c.*824C>A (n.*824C>A)
c.*3360C>A (n.*3360C>A)
c.*779C>A (n.*779C>A)
c.2441C>A (p.Thr814Asn)
c.275C>A (p.Thr92Asn)
c.688C>A
n.2980C>A
c.2807C>A (p.Thr936Asn)
c.2084C>A (p.Thr695Asn)
c.635C>A (p.Thr212Asn)
 ClinVar
2g.165344829C>GCA349015997SCN2Ac.2837C>G (p.Thr946Ser)
c.*1156C>G (n.*1156C>G)
c.*824C>G (n.*824C>G)
c.*3360C>G (n.*3360C>G)
c.*779C>G (n.*779C>G)
c.2441C>G (p.Thr814Ser)
c.275C>G (p.Thr92Ser)
c.688C>G
n.2980C>G
c.2807C>G (p.Thr936Ser)
c.2084C>G (p.Thr695Ser)
c.635C>G (p.Thr212Ser)
2g.165344829C>TCA349016000SCN2Ac.2837C>T (p.Thr946Ile)
c.*1156C>T (n.*1156C>T)
c.*824C>T (n.*824C>T)
c.*3360C>T (n.*3360C>T)
c.*779C>T (n.*779C>T)
c.2441C>T (p.Thr814Ile)
c.275C>T (p.Thr92Ile)
c.688C>T
n.2980C>T
c.2807C>T (p.Thr936Ile)
c.2084C>T (p.Thr695Ile)
c.635C>T (p.Thr212Ile)
2g.165344830C>ACA429972642SCN2Ac.2838C>A (p.Thr946=)
c.*1157C>A (n.*1157C>A)
c.*825C>A (n.*825C>A)
c.*3361C>A (n.*3361C>A)
c.*780C>A (n.*780C>A)
c.2442C>A (p.Thr814=)
c.276C>A (p.Thr92=)
c.689C>A
n.2981C>A
c.2808C>A (p.Thr936=)
c.2085C>A (p.Thr695=)
c.636C>A (p.Thr212=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165344830C=CA1304545549SCN2Ac.2838C= (p.Thr946=)
c.*1157C= (n.*1157C=)
c.*825C= (n.*825C=)
c.*3361C= (n.*3361C=)
c.*780C= (n.*780C=)
c.2442C= (p.Thr814=)
c.276C= (p.Thr92=)
c.689C=
n.2981C=
c.2808C= (p.Thr936=)
c.2085C= (p.Thr695=)
c.636C= (p.Thr212=)
2g.165344830C>GCA429972643SCN2Ac.2838C>G (p.Thr946=)
c.*1157C>G (n.*1157C>G)
c.*825C>G (n.*825C>G)
c.*3361C>G (n.*3361C>G)
c.*780C>G (n.*780C>G)
c.2442C>G (p.Thr814=)
c.276C>G (p.Thr92=)
c.689C>G
n.2981C>G
c.2808C>G (p.Thr936=)
c.2085C>G (p.Thr695=)
c.636C>G (p.Thr212=)
 gnomAD v4
2g.165344830C>TCA1940026SCN2Ac.2838C>T (p.Thr946=)
c.*1157C>T (n.*1157C>T)
c.*825C>T (n.*825C>T)
c.*3361C>T (n.*3361C>T)
c.*780C>T (n.*780C>T)
c.2442C>T (p.Thr814=)
c.276C>T (p.Thr92=)
c.689C>T
n.2981C>T
c.2808C>T (p.Thr936=)
c.2085C>T (p.Thr695=)
c.636C>T (p.Thr212=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344831A>CCA349016011SCN2Ac.2839A>C (p.Met947Leu)
c.*1158A>C (n.*1158A>C)
c.*826A>C (n.*826A>C)
c.*3362A>C (n.*3362A>C)
c.*781A>C (n.*781A>C)
c.2443A>C (p.Met815Leu)
c.277A>C (p.Met93Leu)
c.690A>C
n.2982A>C
c.2809A>C (p.Met937Leu)
c.2086A>C (p.Met696Leu)
c.637A>C (p.Met213Leu)
2g.165344831A>GCA349016013SCN2Ac.2839A>G (p.Met947Val)
c.*1158A>G (n.*1158A>G)
c.*826A>G (n.*826A>G)
c.*3362A>G (n.*3362A>G)
c.*781A>G (n.*781A>G)
c.2443A>G (p.Met815Val)
c.277A>G (p.Met93Val)
c.690A>G
n.2982A>G
c.2809A>G (p.Met937Val)
c.2086A>G (p.Met696Val)
c.637A>G (p.Met213Val)
2g.165344831A>TCA349016008SCN2Ac.2839A>T (p.Met947Leu)
c.*1158A>T (n.*1158A>T)
c.*826A>T (n.*826A>T)
c.*3362A>T (n.*3362A>T)
c.*781A>T (n.*781A>T)
c.2443A>T (p.Met815Leu)
c.277A>T (p.Met93Leu)
c.690A>T
n.2982A>T
c.2809A>T (p.Met937Leu)
c.2086A>T (p.Met696Leu)
c.637A>T (p.Met213Leu)
2g.165344832T>ACA349016017SCN2Ac.2840T>A (p.Met947Lys)
c.*1159T>A (n.*1159T>A)
c.*827T>A (n.*827T>A)
c.*3363T>A (n.*3363T>A)
c.*782T>A (n.*782T>A)
c.2444T>A (p.Met815Lys)
c.278T>A (p.Met93Lys)
c.691T>A
n.2983T>A
c.2810T>A (p.Met937Lys)
c.2087T>A (p.Met696Lys)
c.638T>A (p.Met213Lys)
2g.165344832T>CCA349016038SCN2Ac.2840T>C (p.Met947Thr)
c.*1159T>C (n.*1159T>C)
c.*827T>C (n.*827T>C)
c.*3363T>C (n.*3363T>C)
c.*782T>C (n.*782T>C)
c.2444T>C (p.Met815Thr)
c.278T>C (p.Met93Thr)
c.691T>C
n.2983T>C
c.2810T>C (p.Met937Thr)
c.2087T>C (p.Met696Thr)
c.638T>C (p.Met213Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.165344832T>GCA349016041SCN2Ac.2840T>G (p.Met947Arg)
c.*1159T>G (n.*1159T>G)
c.*827T>G (n.*827T>G)
c.*3363T>G (n.*3363T>G)
c.*782T>G (n.*782T>G)
c.2444T>G (p.Met815Arg)
c.278T>G (p.Met93Arg)
c.691T>G
n.2983T>G
c.2810T>G (p.Met937Arg)
c.2087T>G (p.Met696Arg)
c.638T>G (p.Met213Arg)
2g.165344832T=CA1304545550SCN2Ac.2840T= (p.Met947=)
c.*1159T= (n.*1159T=)
c.*827T= (n.*827T=)
c.*3363T= (n.*3363T=)
c.*782T= (n.*782T=)
c.2444T= (p.Met815=)
c.278T= (p.Met93=)
c.691T=
n.2983T=
c.2810T= (p.Met937=)
c.2087T= (p.Met696=)
c.638T= (p.Met213=)
2g.165344833G>ACA349016045SCN2Ac.2841G>A (p.Met947Ile)
c.*1160G>A (n.*1160G>A)
c.*828G>A (n.*828G>A)
c.*3364G>A (n.*3364G>A)
c.*783G>A (n.*783G>A)
c.2445G>A (p.Met815Ile)
c.279G>A (p.Met93Ile)
c.692G>A
n.2984G>A
c.2811G>A (p.Met937Ile)
c.2088G>A (p.Met696Ile)
c.639G>A (p.Met213Ile)
2g.165344833G>CCA349016049SCN2Ac.2841G>C (p.Met947Ile)
c.*1160G>C (n.*1160G>C)
c.*828G>C (n.*828G>C)
c.*3364G>C (n.*3364G>C)
c.*783G>C (n.*783G>C)
c.2445G>C (p.Met815Ile)
c.279G>C (p.Met93Ile)
c.692G>C
n.2984G>C
c.2811G>C (p.Met937Ile)
c.2088G>C (p.Met696Ile)
c.639G>C (p.Met213Ile)
2g.165344833G>TCA349016059SCN2Ac.2841G>T (p.Met947Ile)
c.*1160G>T (n.*1160G>T)
c.*828G>T (n.*828G>T)
c.*3364G>T (n.*3364G>T)
c.*783G>T (n.*783G>T)
c.2445G>T (p.Met815Ile)
c.279G>T (p.Met93Ile)
c.692G>T
n.2984G>T
c.2811G>T (p.Met937Ile)
c.2088G>T (p.Met696Ile)
c.639G>T (p.Met213Ile)
2g.165344834T>ACA349016071SCN2Ac.2842T>A (p.Trp948Arg)
c.*1161T>A (n.*1161T>A)
c.*829T>A (n.*829T>A)
c.*3365T>A (n.*3365T>A)
c.*784T>A (n.*784T>A)
c.2446T>A (p.Trp816Arg)
c.280T>A (p.Trp94Arg)
c.693T>A
n.2985T>A
c.2812T>A (p.Trp938Arg)
c.2089T>A (p.Trp697Arg)
c.640T>A (p.Trp214Arg)
2g.165344834T>CCA349016063SCN2Ac.2842T>C (p.Trp948Arg)
c.*1161T>C (n.*1161T>C)
c.*829T>C (n.*829T>C)
c.*3365T>C (n.*3365T>C)
c.*784T>C (n.*784T>C)
c.2446T>C (p.Trp816Arg)
c.280T>C (p.Trp94Arg)
c.693T>C
n.2985T>C
c.2812T>C (p.Trp938Arg)
c.2089T>C (p.Trp697Arg)
c.640T>C (p.Trp214Arg)
 ClinVar dbSNP
2g.165344834T>GCA349016067SCN2Ac.2842T>G (p.Trp948Gly)
c.*1161T>G (n.*1161T>G)
c.*829T>G (n.*829T>G)
c.*3365T>G (n.*3365T>G)
c.*784T>G (n.*784T>G)
c.2446T>G (p.Trp816Gly)
c.280T>G (p.Trp94Gly)
c.693T>G
n.2985T>G
c.2812T>G (p.Trp938Gly)
c.2089T>G (p.Trp697Gly)
c.640T>G (p.Trp214Gly)
2g.165344835G>ACA349016073SCN2Ac.2843G>A (p.Trp948Ter)
c.*1162G>A (n.*1162G>A)
c.*830G>A (n.*830G>A)
c.*3366G>A (n.*3366G>A)
c.*785G>A (n.*785G>A)
c.2447G>A (p.Trp816Ter)
c.281G>A (p.Trp94Ter)
c.694G>A
n.2986G>A
c.2813G>A (p.Trp938Ter)
c.2090G>A (p.Trp697Ter)
c.641G>A (p.Trp214Ter)
2g.165344835G>CCA349016076SCN2Ac.2843G>C (p.Trp948Ser)
c.*1162G>C (n.*1162G>C)
c.*830G>C (n.*830G>C)
c.*3366G>C (n.*3366G>C)
c.*785G>C (n.*785G>C)
c.2447G>C (p.Trp816Ser)
c.281G>C (p.Trp94Ser)
c.694G>C
n.2986G>C
c.2813G>C (p.Trp938Ser)
c.2090G>C (p.Trp697Ser)
c.641G>C (p.Trp214Ser)
2g.165344835G>TCA349016085SCN2Ac.2843G>T (p.Trp948Leu)
c.*1162G>T (n.*1162G>T)
c.*830G>T (n.*830G>T)
c.*3366G>T (n.*3366G>T)
c.*785G>T (n.*785G>T)
c.2447G>T (p.Trp816Leu)
c.281G>T (p.Trp94Leu)
c.694G>T
n.2986G>T
c.2813G>T (p.Trp938Leu)
c.2090G>T (p.Trp697Leu)
c.641G>T (p.Trp214Leu)
2g.165344836G>ACA59720140SCN2Ac.2844G>A (p.Trp948Ter)
c.*1163G>A (n.*1163G>A)
c.*831G>A (n.*831G>A)
c.*3367G>A (n.*3367G>A)
c.*786G>A (n.*786G>A)
c.2448G>A (p.Trp816Ter)
c.282G>A (p.Trp94Ter)
c.695G>A
n.2987G>A
c.2814G>A (p.Trp938Ter)
c.2091G>A (p.Trp697Ter)
c.642G>A (p.Trp214Ter)
 ClinVar dbSNP
2g.165344836G>CCA349016094SCN2Ac.2844G>C (p.Trp948Cys)
c.*1163G>C (n.*1163G>C)
c.*831G>C (n.*831G>C)
c.*3367G>C (n.*3367G>C)
c.*786G>C (n.*786G>C)
c.2448G>C (p.Trp816Cys)
c.282G>C (p.Trp94Cys)
c.695G>C
n.2987G>C
c.2814G>C (p.Trp938Cys)
c.2091G>C (p.Trp697Cys)
c.642G>C (p.Trp214Cys)
2g.165344836G=CA1304545551SCN2Ac.2844G= (p.Trp948=)
c.*1163G= (n.*1163G=)
c.*831G= (n.*831G=)
c.*3367G= (n.*3367G=)
c.*786G= (n.*786G=)
c.2448G= (p.Trp816=)
c.282G= (p.Trp94=)
c.695G=
n.2987G=
c.2814G= (p.Trp938=)
c.2091G= (p.Trp697=)
c.642G= (p.Trp214=)
2g.165344836G>TCA349016097SCN2Ac.2844G>T (p.Trp948Cys)
c.*1163G>T (n.*1163G>T)
c.*831G>T (n.*831G>T)
c.*3367G>T (n.*3367G>T)
c.*786G>T (n.*786G>T)
c.2448G>T (p.Trp816Cys)
c.282G>T (p.Trp94Cys)
c.695G>T
n.2987G>T
c.2814G>T (p.Trp938Cys)
c.2091G>T (p.Trp697Cys)
c.642G>T (p.Trp214Cys)
2g.165344837G>ACA349016100SCN2Ac.2845G>A (p.Asp949Asn)
c.*1164G>A (n.*1164G>A)
c.*832G>A (n.*832G>A)
c.*3368G>A (n.*3368G>A)
c.*787G>A (n.*787G>A)
c.2449G>A (p.Asp817Asn)
c.283G>A (p.Asp95Asn)
c.696G>A
n.2988G>A
c.2815G>A (p.Asp939Asn)
c.2092G>A (p.Asp698Asn)
c.643G>A (p.Asp215Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.165344837G>CCA349016108SCN2Ac.2845G>C (p.Asp949His)
c.*1164G>C (n.*1164G>C)
c.*832G>C (n.*832G>C)
c.*3368G>C (n.*3368G>C)
c.*787G>C (n.*787G>C)
c.2449G>C (p.Asp817His)
c.283G>C (p.Asp95His)
c.696G>C
n.2988G>C
c.2815G>C (p.Asp939His)
c.2092G>C (p.Asp698His)
c.643G>C (p.Asp215His)
2g.165344837G=CA1304545552SCN2Ac.2845G= (p.Asp949=)
c.*1164G= (n.*1164G=)
c.*832G= (n.*832G=)
c.*3368G= (n.*3368G=)
c.*787G= (n.*787G=)
c.2449G= (p.Asp817=)
c.283G= (p.Asp95=)
c.696G=
n.2988G=
c.2815G= (p.Asp939=)
c.2092G= (p.Asp698=)
c.643G= (p.Asp215=)
2g.165344837G>TCA349016104SCN2Ac.2845G>T (p.Asp949Tyr)
c.*1164G>T (n.*1164G>T)
c.*832G>T (n.*832G>T)
c.*3368G>T (n.*3368G>T)
c.*787G>T (n.*787G>T)
c.2449G>T (p.Asp817Tyr)
c.283G>T (p.Asp95Tyr)
c.696G>T
n.2988G>T
c.2815G>T (p.Asp939Tyr)
c.2092G>T (p.Asp698Tyr)
c.643G>T (p.Asp215Tyr)
2g.165344838A=CA1304545553SCN2Ac.2846A= (p.Asp949=)
c.*1165A= (n.*1165A=)
c.*833A= (n.*833A=)
c.*3369A= (n.*3369A=)
c.*788A= (n.*788A=)
c.2450A= (p.Asp817=)
c.284A= (p.Asp95=)
c.697A=
n.2989A=
c.2816A= (p.Asp939=)
c.2093A= (p.Asp698=)
c.644A= (p.Asp215=)
2g.165344838A>CCA349016111SCN2Ac.2846A>C (p.Asp949Ala)
c.*1165A>C (n.*1165A>C)
c.*833A>C (n.*833A>C)
c.*3369A>C (n.*3369A>C)
c.*788A>C (n.*788A>C)
c.2450A>C (p.Asp817Ala)
c.284A>C (p.Asp95Ala)
c.697A>C
n.2989A>C
c.2816A>C (p.Asp939Ala)
c.2093A>C (p.Asp698Ala)
c.644A>C (p.Asp215Ala)
2g.165344838A>GCA349016114SCN2Ac.2846A>G (p.Asp949Gly)
c.*1165A>G (n.*1165A>G)
c.*833A>G (n.*833A>G)
c.*3369A>G (n.*3369A>G)
c.*788A>G (n.*788A>G)
c.2450A>G (p.Asp817Gly)
c.284A>G (p.Asp95Gly)
c.697A>G
n.2989A>G
c.2816A>G (p.Asp939Gly)
c.2093A>G (p.Asp698Gly)
c.644A>G (p.Asp215Gly)
 dbSNP
2g.165344838A>TCA349016118SCN2Ac.2846A>T (p.Asp949Val)
c.*1165A>T (n.*1165A>T)
c.*833A>T (n.*833A>T)
c.*3369A>T (n.*3369A>T)
c.*788A>T (n.*788A>T)
c.2450A>T (p.Asp817Val)
c.284A>T (p.Asp95Val)
c.697A>T
n.2989A>T
c.2816A>T (p.Asp939Val)
c.2093A>T (p.Asp698Val)
c.644A>T (p.Asp215Val)
2g.165344839C>ACA349016121SCN2Ac.2847C>A (p.Asp949Glu)
c.*1166C>A (n.*1166C>A)
c.*834C>A (n.*834C>A)
c.*3370C>A (n.*3370C>A)
c.*789C>A (n.*789C>A)
c.2451C>A (p.Asp817Glu)
c.285C>A (p.Asp95Glu)
c.698C>A
n.2990C>A
c.2817C>A (p.Asp939Glu)
c.2094C>A (p.Asp698Glu)
c.645C>A (p.Asp215Glu)
2g.165344839C>GCA349016125SCN2Ac.2847C>G (p.Asp949Glu)
c.*1166C>G (n.*1166C>G)
c.*834C>G (n.*834C>G)
c.*3370C>G (n.*3370C>G)
c.*789C>G (n.*789C>G)
c.2451C>G (p.Asp817Glu)
c.285C>G (p.Asp95Glu)
c.698C>G
n.2990C>G
c.2817C>G (p.Asp939Glu)
c.2094C>G (p.Asp698Glu)
c.645C>G (p.Asp215Glu)
2g.165344839C>TCA429972644SCN2Ac.2847C>T (p.Asp949=)
c.*1166C>T (n.*1166C>T)
c.*834C>T (n.*834C>T)
c.*3370C>T (n.*3370C>T)
c.*789C>T (n.*789C>T)
c.2451C>T (p.Asp817=)
c.285C>T (p.Asp95=)
c.698C>T
n.2990C>T
c.2817C>T (p.Asp939=)
c.2094C>T (p.Asp698=)
c.645C>T (p.Asp215=)
2g.165344840T>ACA349016130SCN2Ac.2848T>A (p.Cys950Ser)
c.*1167T>A (n.*1167T>A)
c.*835T>A (n.*835T>A)
c.*3371T>A (n.*3371T>A)
c.*790T>A (n.*790T>A)
c.2452T>A (p.Cys818Ser)
c.286T>A (p.Cys96Ser)
c.699T>A
n.2991T>A
c.2818T>A (p.Cys940Ser)
c.2095T>A (p.Cys699Ser)
c.646T>A (p.Cys216Ser)
2g.165344840T>CCA349016135SCN2Ac.2848T>C (p.Cys950Arg)
c.*1167T>C (n.*1167T>C)
c.*835T>C (n.*835T>C)
c.*3371T>C (n.*3371T>C)
c.*790T>C (n.*790T>C)
c.2452T>C (p.Cys818Arg)
c.286T>C (p.Cys96Arg)
c.699T>C
n.2991T>C
c.2818T>C (p.Cys940Arg)
c.2095T>C (p.Cys699Arg)
c.646T>C (p.Cys216Arg)
2g.165344840T>GCA349016136SCN2Ac.2848T>G (p.Cys950Gly)
c.*1167T>G (n.*1167T>G)
c.*835T>G (n.*835T>G)
c.*3371T>G (n.*3371T>G)
c.*790T>G (n.*790T>G)
c.2452T>G (p.Cys818Gly)
c.286T>G (p.Cys96Gly)
c.699T>G
n.2991T>G
c.2818T>G (p.Cys940Gly)
c.2095T>G (p.Cys699Gly)
c.646T>G (p.Cys216Gly)
2g.165344841G>ACA349016141SCN2Ac.2849G>A (p.Cys950Tyr)
c.*1168G>A (n.*1168G>A)
c.*836G>A (n.*836G>A)
c.*3372G>A (n.*3372G>A)
c.*791G>A (n.*791G>A)
c.2453G>A (p.Cys818Tyr)
c.287G>A (p.Cys96Tyr)
c.700G>A
n.2992G>A
c.2819G>A (p.Cys940Tyr)
c.2096G>A (p.Cys699Tyr)
c.647G>A (p.Cys216Tyr)
2g.165344841G>CCA349016144SCN2Ac.2849G>C (p.Cys950Ser)
c.*1168G>C (n.*1168G>C)
c.*836G>C (n.*836G>C)
c.*3372G>C (n.*3372G>C)
c.*791G>C (n.*791G>C)
c.2453G>C (p.Cys818Ser)
c.287G>C (p.Cys96Ser)
c.700G>C
n.2992G>C
c.2819G>C (p.Cys940Ser)
c.2096G>C (p.Cys699Ser)
c.647G>C (p.Cys216Ser)
2g.165344841G>TCA349016148SCN2Ac.2849G>T (p.Cys950Phe)
c.*1168G>T (n.*1168G>T)
c.*836G>T (n.*836G>T)
c.*3372G>T (n.*3372G>T)
c.*791G>T (n.*791G>T)
c.2453G>T (p.Cys818Phe)
c.287G>T (p.Cys96Phe)
c.700G>T
n.2992G>T
c.2819G>T (p.Cys940Phe)
c.2096G>T (p.Cys699Phe)
c.647G>T (p.Cys216Phe)
2g.165344842T>ACA349016151SCN2Ac.2850T>A (p.Cys950Ter)
c.*1169T>A (n.*1169T>A)
c.*837T>A (n.*837T>A)
c.*3373T>A (n.*3373T>A)
c.*792T>A (n.*792T>A)
c.2454T>A (p.Cys818Ter)
c.288T>A (p.Cys96Ter)
c.701T>A
n.2993T>A
c.2820T>A (p.Cys940Ter)
c.2097T>A (p.Cys699Ter)
c.648T>A (p.Cys216Ter)
2g.165344842T>CCA429972645SCN2Ac.2850T>C (p.Cys950=)
c.*1169T>C (n.*1169T>C)
c.*837T>C (n.*837T>C)
c.*3373T>C (n.*3373T>C)
c.*792T>C (n.*792T>C)
c.2454T>C (p.Cys818=)
c.288T>C (p.Cys96=)
c.701T>C
n.2993T>C
c.2820T>C (p.Cys940=)
c.2097T>C (p.Cys699=)
c.648T>C (p.Cys216=)
2g.165344842T>GCA349016152SCN2Ac.2850T>G (p.Cys950Trp)
c.*1169T>G (n.*1169T>G)
c.*837T>G (n.*837T>G)
c.*3373T>G (n.*3373T>G)
c.*792T>G (n.*792T>G)
c.2454T>G (p.Cys818Trp)
c.288T>G (p.Cys96Trp)
c.701T>G
n.2993T>G
c.2820T>G (p.Cys940Trp)
c.2097T>G (p.Cys699Trp)
c.648T>G (p.Cys216Trp)
2g.165344843A>CCA349016154SCN2Ac.2851A>C (p.Met951Leu)
c.*1170A>C (n.*1170A>C)
c.*838A>C (n.*838A>C)
c.*3374A>C (n.*3374A>C)
c.*793A>C (n.*793A>C)
c.2455A>C (p.Met819Leu)
c.289A>C (p.Met97Leu)
c.702A>C
n.2994A>C
c.2821A>C (p.Met941Leu)
c.2098A>C (p.Met700Leu)
c.649A>C (p.Met217Leu)
2g.165344843A>GCA349016155SCN2Ac.2851A>G (p.Met951Val)
c.*1170A>G (n.*1170A>G)
c.*838A>G (n.*838A>G)
c.*3374A>G (n.*3374A>G)
c.*793A>G (n.*793A>G)
c.2455A>G (p.Met819Val)
c.289A>G (p.Met97Val)
c.702A>G
n.2994A>G
c.2821A>G (p.Met941Val)
c.2098A>G (p.Met700Val)
c.649A>G (p.Met217Val)
2g.165344843A>TCA349016153SCN2Ac.2851A>T (p.Met951Leu)
c.*1170A>T (n.*1170A>T)
c.*838A>T (n.*838A>T)
c.*3374A>T (n.*3374A>T)
c.*793A>T (n.*793A>T)
c.2455A>T (p.Met819Leu)
c.289A>T (p.Met97Leu)
c.702A>T
n.2994A>T
c.2821A>T (p.Met941Leu)
c.2098A>T (p.Met700Leu)
c.649A>T (p.Met217Leu)
2g.165344844T>ACA349016157SCN2Ac.2852T>A (p.Met951Lys)
c.*1171T>A (n.*1171T>A)
c.*839T>A (n.*839T>A)
c.*3375T>A (n.*3375T>A)
c.*794T>A (n.*794T>A)
c.2456T>A (p.Met819Lys)
c.290T>A (p.Met97Lys)
c.703T>A
n.2995T>A
c.2822T>A (p.Met941Lys)
c.2099T>A (p.Met700Lys)
c.650T>A (p.Met217Lys)
2g.165344844T>CCA349016156SCN2Ac.2852T>C (p.Met951Thr)
c.*1171T>C (n.*1171T>C)
c.*839T>C (n.*839T>C)
c.*3375T>C (n.*3375T>C)
c.*794T>C (n.*794T>C)
c.2456T>C (p.Met819Thr)
c.290T>C (p.Met97Thr)
c.703T>C
n.2995T>C
c.2822T>C (p.Met941Thr)
c.2099T>C (p.Met700Thr)
c.650T>C (p.Met217Thr)
 dbSNP gnomAD v2
2g.165344844T>GCA349016159SCN2Ac.2852T>G (p.Met951Arg)
c.*1171T>G (n.*1171T>G)
c.*839T>G (n.*839T>G)
c.*3375T>G (n.*3375T>G)
c.*794T>G (n.*794T>G)
c.2456T>G (p.Met819Arg)
c.290T>G (p.Met97Arg)
c.703T>G
n.2995T>G
c.2822T>G (p.Met941Arg)
c.2099T>G (p.Met700Arg)
c.650T>G (p.Met217Arg)
 ClinVar dbSNP
2g.165344844T=CA1304545554SCN2Ac.2852T= (p.Met951=)
c.*1171T= (n.*1171T=)
c.*839T= (n.*839T=)
c.*3375T= (n.*3375T=)
c.*794T= (n.*794T=)
c.2456T= (p.Met819=)
c.290T= (p.Met97=)
c.703T=
n.2995T=
c.2822T= (p.Met941=)
c.2099T= (p.Met700=)
c.650T= (p.Met217=)
2g.165344845G>ACA349016160SCN2Ac.2853G>A (p.Met951Ile)
c.*1172G>A (n.*1172G>A)
c.*840G>A (n.*840G>A)
c.*3376G>A (n.*3376G>A)
c.*795G>A (n.*795G>A)
c.2457G>A (p.Met819Ile)
c.291G>A (p.Met97Ile)
c.704G>A
n.2996G>A
c.2823G>A (p.Met941Ile)
c.2100G>A (p.Met700Ile)
c.651G>A (p.Met217Ile)
 gnomAD v4
2g.165344845G>CCA349016163SCN2Ac.2853G>C (p.Met951Ile)
c.*1172G>C (n.*1172G>C)
c.*840G>C (n.*840G>C)
c.*3376G>C (n.*3376G>C)
c.*795G>C (n.*795G>C)
c.2457G>C (p.Met819Ile)
c.291G>C (p.Met97Ile)
c.704G>C
n.2996G>C
c.2823G>C (p.Met941Ile)
c.2100G>C (p.Met700Ile)
c.651G>C (p.Met217Ile)
2g.165344845G>TCA349016161SCN2Ac.2853G>T (p.Met951Ile)
c.*1172G>T (n.*1172G>T)
c.*840G>T (n.*840G>T)
c.*3376G>T (n.*3376G>T)
c.*795G>T (n.*795G>T)
c.2457G>T (p.Met819Ile)
c.291G>T (p.Met97Ile)
c.704G>T
n.2996G>T
c.2823G>T (p.Met941Ile)
c.2100G>T (p.Met700Ile)
c.651G>T (p.Met217Ile)
2g.165344846G>ACA349016166SCN2Ac.2854G>A (p.Glu952Lys)
c.*1173G>A (n.*1173G>A)
c.*841G>A (n.*841G>A)
c.*3377G>A (n.*3377G>A)
c.*796G>A (n.*796G>A)
c.2458G>A (p.Glu820Lys)
c.292G>A (p.Glu98Lys)
c.705G>A
n.2997G>A
c.2824G>A (p.Glu942Lys)
c.2101G>A (p.Glu701Lys)
c.652G>A (p.Glu218Lys)
 COSMIC COSMIC
2g.165344846G>CCA349016172SCN2Ac.2854G>C (p.Glu952Gln)
c.*1173G>C (n.*1173G>C)
c.*841G>C (n.*841G>C)
c.*3377G>C (n.*3377G>C)
c.*796G>C (n.*796G>C)
c.2458G>C (p.Glu820Gln)
c.292G>C (p.Glu98Gln)
c.705G>C
n.2997G>C
c.2824G>C (p.Glu942Gln)
c.2101G>C (p.Glu701Gln)
c.652G>C (p.Glu218Gln)
2g.165344846G=CA1304545555SCN2Ac.2854G= (p.Glu952=)
c.*1173G= (n.*1173G=)
c.*841G= (n.*841G=)
c.*3377G= (n.*3377G=)
c.*796G= (n.*796G=)
c.2458G= (p.Glu820=)
c.292G= (p.Glu98=)
c.705G=
n.2997G=
c.2824G= (p.Glu942=)
c.2101G= (p.Glu701=)
c.652G= (p.Glu218=)
2g.165344846G>TCA349016169SCN2Ac.2854G>T (p.Glu952Ter)
c.*1173G>T (n.*1173G>T)
c.*841G>T (n.*841G>T)
c.*3377G>T (n.*3377G>T)
c.*796G>T (n.*796G>T)
c.2458G>T (p.Glu820Ter)
c.292G>T (p.Glu98Ter)
c.705G>T
n.2997G>T
c.2824G>T (p.Glu942Ter)
c.2101G>T (p.Glu701Ter)
c.652G>T (p.Glu218Ter)
 ClinVar dbSNP
2g.165344847A=CA1304545556SCN2Ac.2855A= (p.Glu952=)
c.*1174A= (n.*1174A=)
c.*842A= (n.*842A=)
c.*3378A= (n.*3378A=)
c.*797A= (n.*797A=)
c.2459A= (p.Glu820=)
c.293A= (p.Glu98=)
c.706A=
n.2998A=
c.2825A= (p.Glu942=)
c.2102A= (p.Glu701=)
c.653A= (p.Glu218=)
2g.165344847A>CCA349016174SCN2Ac.2855A>C (p.Glu952Ala)
c.*1174A>C (n.*1174A>C)
c.*842A>C (n.*842A>C)
c.*3378A>C (n.*3378A>C)
c.*797A>C (n.*797A>C)
c.2459A>C (p.Glu820Ala)
c.293A>C (p.Glu98Ala)
c.706A>C
n.2998A>C
c.2825A>C (p.Glu942Ala)
c.2102A>C (p.Glu701Ala)
c.653A>C (p.Glu218Ala)
2g.165344847A>GCA349016183SCN2Ac.2855A>G (p.Glu952Gly)
c.*1174A>G (n.*1174A>G)
c.*842A>G (n.*842A>G)
c.*3378A>G (n.*3378A>G)
c.*797A>G (n.*797A>G)
c.2459A>G (p.Glu820Gly)
c.293A>G (p.Glu98Gly)
c.706A>G
n.2998A>G
c.2825A>G (p.Glu942Gly)
c.2102A>G (p.Glu701Gly)
c.653A>G (p.Glu218Gly)
 dbSNP
2g.165344847A>TCA349016177SCN2Ac.2855A>T (p.Glu952Val)
c.*1174A>T (n.*1174A>T)
c.*842A>T (n.*842A>T)
c.*3378A>T (n.*3378A>T)
c.*797A>T (n.*797A>T)
c.2459A>T (p.Glu820Val)
c.293A>T (p.Glu98Val)
c.706A>T
n.2998A>T
c.2825A>T (p.Glu942Val)
c.2102A>T (p.Glu701Val)
c.653A>T (p.Glu218Val)
2g.165344848G>ACA429972646SCN2Ac.2856G>A (p.Glu952=)
c.*1175G>A (n.*1175G>A)
c.*843G>A (n.*843G>A)
c.*3379G>A (n.*3379G>A)
c.*798G>A (n.*798G>A)
c.2460G>A (p.Glu820=)
c.294G>A (p.Glu98=)
c.707G>A
n.2999G>A
c.2826G>A (p.Glu942=)
c.2103G>A (p.Glu701=)
c.654G>A (p.Glu218=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165344848G>CCA349016185SCN2Ac.2856G>C (p.Glu952Asp)
c.*1175G>C (n.*1175G>C)
c.*843G>C (n.*843G>C)
c.*3379G>C (n.*3379G>C)
c.*798G>C (n.*798G>C)
c.2460G>C (p.Glu820Asp)
c.294G>C (p.Glu98Asp)
c.707G>C
n.2999G>C
c.2826G>C (p.Glu942Asp)
c.2103G>C (p.Glu701Asp)
c.654G>C (p.Glu218Asp)
2g.165344848G=CA1304545557SCN2Ac.2856G= (p.Glu952=)
c.*1175G= (n.*1175G=)
c.*843G= (n.*843G=)
c.*3379G= (n.*3379G=)
c.*798G= (n.*798G=)
c.2460G= (p.Glu820=)
c.294G= (p.Glu98=)
c.707G=
n.2999G=
c.2826G= (p.Glu942=)
c.2103G= (p.Glu701=)
c.654G= (p.Glu218=)
2g.165344848G>TCA349016187SCN2Ac.2856G>T (p.Glu952Asp)
c.*1175G>T (n.*1175G>T)
c.*843G>T (n.*843G>T)
c.*3379G>T (n.*3379G>T)
c.*798G>T (n.*798G>T)
c.2460G>T (p.Glu820Asp)
c.294G>T (p.Glu98Asp)
c.707G>T
n.2999G>T
c.2826G>T (p.Glu942Asp)
c.2103G>T (p.Glu701Asp)
c.654G>T (p.Glu218Asp)
2g.165344849G>ACA349016191SCN2Ac.2857G>A (p.Val953Ile)
c.*1176G>A (n.*1176G>A)
c.*844G>A (n.*844G>A)
c.*3380G>A (n.*3380G>A)
c.*799G>A (n.*799G>A)
c.2461G>A (p.Val821Ile)
c.295G>A (p.Val99Ile)
c.708G>A
n.3000G>A
c.2827G>A (p.Val943Ile)
c.2104G>A (p.Val702Ile)
c.655G>A (p.Val219Ile)
2g.165344849G>CCA349016193SCN2Ac.2857G>C (p.Val953Leu)
c.*1176G>C (n.*1176G>C)
c.*844G>C (n.*844G>C)
c.*3380G>C (n.*3380G>C)
c.*799G>C (n.*799G>C)
c.2461G>C (p.Val821Leu)
c.295G>C (p.Val99Leu)
c.708G>C
n.3000G>C
c.2827G>C (p.Val943Leu)
c.2104G>C (p.Val702Leu)
c.655G>C (p.Val219Leu)
2g.165344849G>TCA349016196SCN2Ac.2857G>T (p.Val953Phe)
c.*1176G>T (n.*1176G>T)
c.*844G>T (n.*844G>T)
c.*3380G>T (n.*3380G>T)
c.*799G>T (n.*799G>T)
c.2461G>T (p.Val821Phe)
c.295G>T (p.Val99Phe)
c.708G>T
n.3000G>T
c.2827G>T (p.Val943Phe)
c.2104G>T (p.Val702Phe)
c.655G>T (p.Val219Phe)
2g.165344850T>ACA349016199SCN2Ac.2858T>A (p.Val953Asp)
c.*1177T>A (n.*1177T>A)
c.*845T>A (n.*845T>A)
c.*3381T>A (n.*3381T>A)
c.*800T>A (n.*800T>A)
c.2462T>A (p.Val821Asp)
c.296T>A (p.Val99Asp)
c.709T>A
n.3001T>A
c.2828T>A (p.Val943Asp)
c.2105T>A (p.Val702Asp)
c.656T>A (p.Val219Asp)
2g.165344850T>CCA349016204SCN2Ac.2858T>C (p.Val953Ala)
c.*1177T>C (n.*1177T>C)
c.*845T>C (n.*845T>C)
c.*3381T>C (n.*3381T>C)
c.*800T>C (n.*800T>C)
c.2462T>C (p.Val821Ala)
c.296T>C (p.Val99Ala)
c.709T>C
n.3001T>C
c.2828T>C (p.Val943Ala)
c.2105T>C (p.Val702Ala)
c.656T>C (p.Val219Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165344850T>GCA349016205SCN2Ac.2858T>G (p.Val953Gly)
c.*1177T>G (n.*1177T>G)
c.*845T>G (n.*845T>G)
c.*3381T>G (n.*3381T>G)
c.*800T>G (n.*800T>G)
c.2462T>G (p.Val821Gly)
c.296T>G (p.Val99Gly)
c.709T>G
n.3001T>G
c.2828T>G (p.Val943Gly)
c.2105T>G (p.Val702Gly)
c.656T>G (p.Val219Gly)
 dbSNP
2g.165344850T=CA1304545558SCN2Ac.2858T= (p.Val953=)
c.*1177T= (n.*1177T=)
c.*845T= (n.*845T=)
c.*3381T= (n.*3381T=)
c.*800T= (n.*800T=)
c.2462T= (p.Val821=)
c.296T= (p.Val99=)
c.709T=
n.3001T=
c.2828T= (p.Val943=)
c.2105T= (p.Val702=)
c.656T= (p.Val219=)
2g.165344851C>ACA429972647SCN2Ac.2859C>A (p.Val953=)
c.*1178C>A (n.*1178C>A)
c.*846C>A (n.*846C>A)
c.*3382C>A (n.*3382C>A)
c.*801C>A (n.*801C>A)
c.2463C>A (p.Val821=)
c.297C>A (p.Val99=)
c.710C>A
n.3002C>A
c.2829C>A (p.Val943=)
c.2106C>A (p.Val702=)
c.657C>A (p.Val219=)
2g.165344851C=CA1304545559SCN2Ac.2859C= (p.Val953=)
c.*1178C= (n.*1178C=)
c.*846C= (n.*846C=)
c.*3382C= (n.*3382C=)
c.*801C= (n.*801C=)
c.2463C= (p.Val821=)
c.297C= (p.Val99=)
c.710C=
n.3002C=
c.2829C= (p.Val943=)
c.2106C= (p.Val702=)
c.657C= (p.Val219=)
2g.165344851C>GCA429972648SCN2Ac.2859C>G (p.Val953=)
c.*1178C>G (n.*1178C>G)
c.*846C>G (n.*846C>G)
c.*3382C>G (n.*3382C>G)
c.*801C>G (n.*801C>G)
c.2463C>G (p.Val821=)
c.297C>G (p.Val99=)
c.710C>G
n.3002C>G
c.2829C>G (p.Val943=)
c.2106C>G (p.Val702=)
c.657C>G (p.Val219=)
2g.165344851C>TCA293235SCN2Ac.2859C>T (p.Val953=)
c.*1178C>T (n.*1178C>T)
c.*846C>T (n.*846C>T)
c.*3382C>T (n.*3382C>T)
c.*801C>T (n.*801C>T)
c.2463C>T (p.Val821=)
c.297C>T (p.Val99=)
c.710C>T
n.3002C>T
c.2829C>T (p.Val943=)
c.2106C>T (p.Val702=)
c.657C>T (p.Val219=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165344852G>ACA1940027SCN2Ac.2860G>A (p.Ala954Thr)
c.*1179G>A (n.*1179G>A)
c.*847G>A (n.*847G>A)
c.*3383G>A (n.*3383G>A)
c.*802G>A (n.*802G>A)
c.2464G>A (p.Ala822Thr)
c.298G>A (p.Ala100Thr)
c.711G>A
n.3003G>A
c.2830G>A (p.Ala944Thr)
c.2107G>A (p.Ala703Thr)
c.658G>A (p.Ala220Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344852G>CCA349016214SCN2Ac.2860G>C (p.Ala954Pro)
c.*1179G>C (n.*1179G>C)
c.*847G>C (n.*847G>C)
c.*3383G>C (n.*3383G>C)
c.*802G>C (n.*802G>C)
c.2464G>C (p.Ala822Pro)
c.298G>C (p.Ala100Pro)
c.711G>C
n.3003G>C
c.2830G>C (p.Ala944Pro)
c.2107G>C (p.Ala703Pro)
c.658G>C (p.Ala220Pro)
2g.165344852G=CA1304545560SCN2Ac.2860G= (p.Ala954=)
c.*1179G= (n.*1179G=)
c.*847G= (n.*847G=)
c.*3383G= (n.*3383G=)
c.*802G= (n.*802G=)
c.2464G= (p.Ala822=)
c.298G= (p.Ala100=)
c.711G=
n.3003G=
c.2830G= (p.Ala944=)
c.2107G= (p.Ala703=)
c.658G= (p.Ala220=)
2g.165344852G>TCA1940028SCN2Ac.2860G>T (p.Ala954Ser)
c.*1179G>T (n.*1179G>T)
c.*847G>T (n.*847G>T)
c.*3383G>T (n.*3383G>T)
c.*802G>T (n.*802G>T)
c.2464G>T (p.Ala822Ser)
c.298G>T (p.Ala100Ser)
c.711G>T
n.3003G>T
c.2830G>T (p.Ala944Ser)
c.2107G>T (p.Ala703Ser)
c.658G>T (p.Ala220Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165344853C>ACA349016226SCN2Ac.2861C>A (p.Ala954Asp)
c.*1180C>A (n.*1180C>A)
c.*848C>A (n.*848C>A)
c.*3384C>A (n.*3384C>A)
c.*803C>A (n.*803C>A)
c.2465C>A (p.Ala822Asp)
c.299C>A (p.Ala100Asp)
c.712C>A
n.3004C>A
c.2831C>A (p.Ala944Asp)
c.2108C>A (p.Ala703Asp)
c.659C>A (p.Ala220Asp)
2g.165344853C>GCA349016233SCN2Ac.2861C>G (p.Ala954Gly)
c.*1180C>G (n.*1180C>G)
c.*848C>G (n.*848C>G)
c.*3384C>G (n.*3384C>G)
c.*803C>G (n.*803C>G)
c.2465C>G (p.Ala822Gly)
c.299C>G (p.Ala100Gly)
c.712C>G
n.3004C>G
c.2831C>G (p.Ala944Gly)
c.2108C>G (p.Ala703Gly)
c.659C>G (p.Ala220Gly)
2g.165344853C>TCA349016229SCN2Ac.2861C>T (p.Ala954Val)
c.*1180C>T (n.*1180C>T)
c.*848C>T (n.*848C>T)
c.*3384C>T (n.*3384C>T)
c.*803C>T (n.*803C>T)
c.2465C>T (p.Ala822Val)
c.299C>T (p.Ala100Val)
c.712C>T
n.3004C>T
c.2831C>T (p.Ala944Val)
c.2108C>T (p.Ala703Val)
c.659C>T (p.Ala220Val)
2g.165344854T>ACA429972649SCN2Ac.2862T>A (p.Ala954=)
c.*1181T>A (n.*1181T>A)
c.*849T>A (n.*849T>A)
c.*3385T>A (n.*3385T>A)
c.*804T>A (n.*804T>A)
c.2466T>A (p.Ala822=)
c.300T>A (p.Ala100=)
c.713T>A
n.3005T>A
c.2832T>A (p.Ala944=)
c.2109T>A (p.Ala703=)
c.660T>A (p.Ala220=)
2g.165344854T>CCA429972650SCN2Ac.2862T>C (p.Ala954=)
c.*1181T>C (n.*1181T>C)
c.*849T>C (n.*849T>C)
c.*3385T>C (n.*3385T>C)
c.*804T>C (n.*804T>C)
c.2466T>C (p.Ala822=)
c.300T>C (p.Ala100=)
c.713T>C
n.3005T>C
c.2832T>C (p.Ala944=)
c.2109T>C (p.Ala703=)
c.660T>C (p.Ala220=)
2g.165344854T>GCA429972651SCN2Ac.2862T>G (p.Ala954=)
c.*1181T>G (n.*1181T>G)
c.*849T>G (n.*849T>G)
c.*3385T>G (n.*3385T>G)
c.*804T>G (n.*804T>G)
c.2466T>G (p.Ala822=)
c.300T>G (p.Ala100=)
c.713T>G
n.3005T>G
c.2832T>G (p.Ala944=)
c.2109T>G (p.Ala703=)
c.660T>G (p.Ala220=)
2g.165344855G>ACA349016235SCN2Ac.2863G>A (p.Gly955Ser)
c.*1182G>A (n.*1182G>A)
c.*850G>A (n.*850G>A)
c.*3386G>A (n.*3386G>A)
c.*805G>A (n.*805G>A)
c.2467G>A (p.Gly823Ser)
c.301G>A (p.Gly101Ser)
c.714G>A
n.3006G>A
c.2833G>A (p.Gly945Ser)
c.2110G>A (p.Gly704Ser)
c.661G>A (p.Gly221Ser)
2g.165344855G>CCA349016238SCN2Ac.2863G>C (p.Gly955Arg)
c.*1182G>C (n.*1182G>C)
c.*850G>C (n.*850G>C)
c.*3386G>C (n.*3386G>C)
c.*805G>C (n.*805G>C)
c.2467G>C (p.Gly823Arg)
c.301G>C (p.Gly101Arg)
c.714G>C
n.3006G>C
c.2833G>C (p.Gly945Arg)
c.2110G>C (p.Gly704Arg)
c.661G>C (p.Gly221Arg)
2g.165344855G>TCA349016240SCN2Ac.2863G>T (p.Gly955Cys)
c.*1182G>T (n.*1182G>T)
c.*850G>T (n.*850G>T)
c.*3386G>T (n.*3386G>T)
c.*805G>T (n.*805G>T)
c.2467G>T (p.Gly823Cys)
c.301G>T (p.Gly101Cys)
c.714G>T
n.3006G>T
c.2833G>T (p.Gly945Cys)
c.2110G>T (p.Gly704Cys)
c.661G>T (p.Gly221Cys)
2g.165344856G>ACA349016244SCN2Ac.2864G>A (p.Gly955Asp)
c.*1183G>A (n.*1183G>A)
c.*851G>A (n.*851G>A)
c.*3387G>A (n.*3387G>A)
c.*806G>A (n.*806G>A)
c.2468G>A (p.Gly823Asp)
c.302G>A (p.Gly101Asp)
c.715G>A
n.3007G>A
c.2834G>A (p.Gly945Asp)
c.2111G>A (p.Gly704Asp)
c.662G>A (p.Gly221Asp)
 ClinVar gnomAD v4
2g.165344856G>CCA349016247SCN2Ac.2864G>C (p.Gly955Ala)
c.*1183G>C (n.*1183G>C)
c.*851G>C (n.*851G>C)
c.*3387G>C (n.*3387G>C)
c.*806G>C (n.*806G>C)
c.2468G>C (p.Gly823Ala)
c.302G>C (p.Gly101Ala)
c.715G>C
n.3007G>C
c.2834G>C (p.Gly945Ala)
c.2111G>C (p.Gly704Ala)
c.662G>C (p.Gly221Ala)
 dbSNP
2g.165344856G>TCA349016251SCN2Ac.2864G>T (p.Gly955Val)
c.*1183G>T (n.*1183G>T)
c.*851G>T (n.*851G>T)
c.*3387G>T (n.*3387G>T)
c.*806G>T (n.*806G>T)
c.2468G>T (p.Gly823Val)
c.302G>T (p.Gly101Val)
c.715G>T
n.3007G>T
c.2834G>T (p.Gly945Val)
c.2111G>T (p.Gly704Val)
c.662G>T (p.Gly221Val)
2g.165344857C>ACA429972652SCN2Ac.2865C>A (p.Gly955=)
c.*1184C>A (n.*1184C>A)
c.*852C>A (n.*852C>A)
c.*3388C>A (n.*3388C>A)
c.*807C>A (n.*807C>A)
c.2469C>A (p.Gly823=)
c.303C>A (p.Gly101=)
c.716C>A
n.3008C>A
c.2835C>A (p.Gly945=)
c.2112C>A (p.Gly704=)
c.663C>A (p.Gly221=)
2g.165344857C=CA1304545561SCN2Ac.2865C= (p.Gly955=)
c.*1184C= (n.*1184C=)
c.*852C= (n.*852C=)
c.*3388C= (n.*3388C=)
c.*807C= (n.*807C=)
c.2469C= (p.Gly823=)
c.303C= (p.Gly101=)
c.716C=
n.3008C=
c.2835C= (p.Gly945=)
c.2112C= (p.Gly704=)
c.663C= (p.Gly221=)
2g.165344857C>GCA429972653SCN2Ac.2865C>G (p.Gly955=)
c.*1184C>G (n.*1184C>G)
c.*852C>G (n.*852C>G)
c.*3388C>G (n.*3388C>G)
c.*807C>G (n.*807C>G)
c.2469C>G (p.Gly823=)
c.303C>G (p.Gly101=)
c.716C>G
n.3008C>G
c.2835C>G (p.Gly945=)
c.2112C>G (p.Gly704=)
c.663C>G (p.Gly221=)
2g.165344857C>TCA429972654SCN2Ac.2865C>T (p.Gly955=)
c.*1184C>T (n.*1184C>T)
c.*852C>T (n.*852C>T)
c.*3388C>T (n.*3388C>T)
c.*807C>T (n.*807C>T)
c.2469C>T (p.Gly823=)
c.303C>T (p.Gly101=)
c.716C>T
n.3008C>T
c.2835C>T (p.Gly945=)
c.2112C>T (p.Gly704=)
c.663C>T (p.Gly221=)
 dbSNP
2g.165344858C>ACA349016253SCN2Ac.2866C>A (p.Gln956Lys)
c.*1185C>A (n.*1185C>A)
c.*853C>A (n.*853C>A)
c.*3389C>A (n.*3389C>A)
c.*808C>A (n.*808C>A)
c.2470C>A (p.Gln824Lys)
c.304C>A (p.Gln102Lys)
c.717C>A
n.3009C>A
c.2836C>A (p.Gln946Lys)
c.2113C>A (p.Gln705Lys)
c.664C>A (p.Gln222Lys)
2g.165344858C=CA1304545562SCN2Ac.2866C= (p.Gln956=)
c.*1185C= (n.*1185C=)
c.*853C= (n.*853C=)
c.*3389C= (n.*3389C=)
c.*808C= (n.*808C=)
c.2470C= (p.Gln824=)
c.304C= (p.Gln102=)
c.717C=
n.3009C=
c.2836C= (p.Gln946=)
c.2113C= (p.Gln705=)
c.664C= (p.Gln222=)
2g.165344858C>GCA349016258SCN2Ac.2866C>G (p.Gln956Glu)
c.*1185C>G (n.*1185C>G)
c.*853C>G (n.*853C>G)
c.*3389C>G (n.*3389C>G)
c.*808C>G (n.*808C>G)
c.2470C>G (p.Gln824Glu)
c.304C>G (p.Gln102Glu)
c.717C>G
n.3009C>G
c.2836C>G (p.Gln946Glu)
c.2113C>G (p.Gln705Glu)
c.664C>G (p.Gln222Glu)
2g.165344858C>TCA349016261SCN2Ac.2866C>T (p.Gln956Ter)
c.*1185C>T (n.*1185C>T)
c.*853C>T (n.*853C>T)
c.*3389C>T (n.*3389C>T)
c.*808C>T (n.*808C>T)
c.2470C>T (p.Gln824Ter)
c.304C>T (p.Gln102Ter)
c.717C>T
n.3009C>T
c.2836C>T (p.Gln946Ter)
c.2113C>T (p.Gln705Ter)
c.664C>T (p.Gln222Ter)
 dbSNP
2g.165344859A>CCA349016271SCN2Ac.2867A>C (p.Gln956Pro)
c.*1186A>C (n.*1186A>C)
c.*854A>C (n.*854A>C)
c.*3390A>C (n.*3390A>C)
c.*809A>C (n.*809A>C)
c.2471A>C (p.Gln824Pro)
c.305A>C (p.Gln102Pro)
c.718A>C
n.3010A>C
c.2837A>C (p.Gln946Pro)
c.2114A>C (p.Gln705Pro)
c.665A>C (p.Gln222Pro)
2g.165344859A>GCA349016267SCN2Ac.2867A>G (p.Gln956Arg)
c.*1186A>G (n.*1186A>G)
c.*854A>G (n.*854A>G)
c.*3390A>G (n.*3390A>G)
c.*809A>G (n.*809A>G)
c.2471A>G (p.Gln824Arg)
c.305A>G (p.Gln102Arg)
c.718A>G
n.3010A>G
c.2837A>G (p.Gln946Arg)
c.2114A>G (p.Gln705Arg)
c.665A>G (p.Gln222Arg)
2g.165344859A>TCA349016264SCN2Ac.2867A>T (p.Gln956Leu)
c.*1186A>T (n.*1186A>T)
c.*854A>T (n.*854A>T)
c.*3390A>T (n.*3390A>T)
c.*809A>T (n.*809A>T)
c.2471A>T (p.Gln824Leu)
c.305A>T (p.Gln102Leu)
c.718A>T
n.3010A>T
c.2837A>T (p.Gln946Leu)
c.2114A>T (p.Gln705Leu)
c.665A>T (p.Gln222Leu)
2g.165344860A>CCA349016274SCN2Ac.2868A>C (p.Gln956His)
c.*1187A>C (n.*1187A>C)
c.*855A>C (n.*855A>C)
c.*3391A>C (n.*3391A>C)
c.*810A>C (n.*810A>C)
c.2472A>C (p.Gln824His)
c.306A>C (p.Gln102His)
c.719A>C
n.3011A>C
c.2838A>C (p.Gln946His)
c.2115A>C (p.Gln705His)
c.666A>C (p.Gln222His)
2g.165344860A>GCA429972655SCN2Ac.2868A>G (p.Gln956=)
c.*1187A>G (n.*1187A>G)
c.*855A>G (n.*855A>G)
c.*3391A>G (n.*3391A>G)
c.*810A>G (n.*810A>G)
c.2472A>G (p.Gln824=)
c.306A>G (p.Gln102=)
c.719A>G
n.3011A>G
c.2838A>G (p.Gln946=)
c.2115A>G (p.Gln705=)
c.666A>G (p.Gln222=)
2g.165344860A>TCA349016276SCN2Ac.2868A>T (p.Gln956His)
c.*1187A>T (n.*1187A>T)
c.*855A>T (n.*855A>T)
c.*3391A>T (n.*3391A>T)
c.*810A>T (n.*810A>T)
c.2472A>T (p.Gln824His)
c.306A>T (p.Gln102His)
c.719A>T
n.3011A>T
c.2838A>T (p.Gln946His)
c.2115A>T (p.Gln705His)
c.666A>T (p.Gln222His)
2g.165344861A=CA1304545563SCN2Ac.2869A= (p.Thr957=)
c.*1188A= (n.*1188A=)
c.*856A= (n.*856A=)
c.*3392A= (n.*3392A=)
c.*811A= (n.*811A=)
c.2473A= (p.Thr825=)
c.307A= (p.Thr103=)
c.720A=
n.3012A=
c.2839A= (p.Thr947=)
c.2116A= (p.Thr706=)
c.667A= (p.Thr223=)
2g.165344861A>CCA349016279SCN2Ac.2869A>C (p.Thr957Pro)
c.*1188A>C (n.*1188A>C)
c.*856A>C (n.*856A>C)
c.*3392A>C (n.*3392A>C)
c.*811A>C (n.*811A>C)
c.2473A>C (p.Thr825Pro)
c.307A>C (p.Thr103Pro)
c.720A>C
n.3012A>C
c.2839A>C (p.Thr947Pro)
c.2116A>C (p.Thr706Pro)
c.667A>C (p.Thr223Pro)
2g.165344861A>GCA349016280SCN2Ac.2869A>G (p.Thr957Ala)
c.*1188A>G (n.*1188A>G)
c.*856A>G (n.*856A>G)
c.*3392A>G (n.*3392A>G)
c.*811A>G (n.*811A>G)
c.2473A>G (p.Thr825Ala)
c.307A>G (p.Thr103Ala)
c.720A>G
n.3012A>G
c.2839A>G (p.Thr947Ala)
c.2116A>G (p.Thr706Ala)
c.667A>G (p.Thr223Ala)
 dbSNP
2g.165344861A>TCA349016281SCN2Ac.2869A>T (p.Thr957Ser)
c.*1188A>T (n.*1188A>T)
c.*856A>T (n.*856A>T)
c.*3392A>T (n.*3392A>T)
c.*811A>T (n.*811A>T)
c.2473A>T (p.Thr825Ser)
c.307A>T (p.Thr103Ser)
c.720A>T
n.3012A>T
c.2839A>T (p.Thr947Ser)
c.2116A>T (p.Thr706Ser)
c.667A>T (p.Thr223Ser)

Number of alleles fetched