Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165386797A=CA1304563751SCN2Ac.4603A= (p.Ile1535=)
c.*2922A= (n.*2922A=)
c.*2590A= (n.*2590A=)
c.*5126A= (n.*5126A=)
c.*2545A= (n.*2545A=)
c.4207A= (p.Ile1403=)
n.8034A=
c.4573A= (p.Ile1525=)
c.3850A= (p.Ile1284=)
c.2401A= (p.Ile801=)
2g.165386797A>CCA349036264SCN2Ac.4603A>C (p.Ile1535Leu)
c.*2922A>C (n.*2922A>C)
c.*2590A>C (n.*2590A>C)
c.*5126A>C (n.*5126A>C)
c.*2545A>C (n.*2545A>C)
c.4207A>C (p.Ile1403Leu)
n.8034A>C
c.4573A>C (p.Ile1525Leu)
c.3850A>C (p.Ile1284Leu)
c.2401A>C (p.Ile801Leu)
2g.165386797A>GCA349036266SCN2Ac.4603A>G (p.Ile1535Val)
c.*2922A>G (n.*2922A>G)
c.*2590A>G (n.*2590A>G)
c.*5126A>G (n.*5126A>G)
c.*2545A>G (n.*2545A>G)
c.4207A>G (p.Ile1403Val)
n.8034A>G
c.4573A>G (p.Ile1525Val)
c.3850A>G (p.Ile1284Val)
c.2401A>G (p.Ile801Val)
 ClinVar dbSNP
2g.165386797A>TCA349036265SCN2Ac.4603A>T (p.Ile1535Phe)
c.*2922A>T (n.*2922A>T)
c.*2590A>T (n.*2590A>T)
c.*5126A>T (n.*5126A>T)
c.*2545A>T (n.*2545A>T)
c.4207A>T (p.Ile1403Phe)
n.8034A>T
c.4573A>T (p.Ile1525Phe)
c.3850A>T (p.Ile1284Phe)
c.2401A>T (p.Ile801Phe)
2g.165386798T>ACA349036267SCN2Ac.4604T>A (p.Ile1535Asn)
c.*2923T>A (n.*2923T>A)
c.*2591T>A (n.*2591T>A)
c.*5127T>A (n.*5127T>A)
c.*2546T>A (n.*2546T>A)
c.4208T>A (p.Ile1403Asn)
n.8035T>A
c.4574T>A (p.Ile1525Asn)
c.3851T>A (p.Ile1284Asn)
c.2402T>A (p.Ile801Asn)
2g.165386798T>CCA349036268SCN2Ac.4604T>C (p.Ile1535Thr)
c.*2923T>C (n.*2923T>C)
c.*2591T>C (n.*2591T>C)
c.*5127T>C (n.*5127T>C)
c.*2546T>C (n.*2546T>C)
c.4208T>C (p.Ile1403Thr)
n.8035T>C
c.4574T>C (p.Ile1525Thr)
c.3851T>C (p.Ile1284Thr)
c.2402T>C (p.Ile801Thr)
2g.165386798T>GCA349036269SCN2Ac.4604T>G (p.Ile1535Ser)
c.*2923T>G (n.*2923T>G)
c.*2591T>G (n.*2591T>G)
c.*5127T>G (n.*5127T>G)
c.*2546T>G (n.*2546T>G)
c.4208T>G (p.Ile1403Ser)
n.8035T>G
c.4574T>G (p.Ile1525Ser)
c.3851T>G (p.Ile1284Ser)
c.2402T>G (p.Ile801Ser)
2g.165386799C>ACA429972490SCN2Ac.4605C>A (p.Ile1535=)
c.*2924C>A (n.*2924C>A)
c.*2592C>A (n.*2592C>A)
c.*5128C>A (n.*5128C>A)
c.*2547C>A (n.*2547C>A)
c.4209C>A (p.Ile1403=)
n.8036C>A
c.4575C>A (p.Ile1525=)
c.3852C>A (p.Ile1284=)
c.2403C>A (p.Ile801=)
2g.165386799C>GCA349036270SCN2Ac.4605C>G (p.Ile1535Met)
c.*2924C>G (n.*2924C>G)
c.*2592C>G (n.*2592C>G)
c.*5128C>G (n.*5128C>G)
c.*2547C>G (n.*2547C>G)
c.4209C>G (p.Ile1403Met)
n.8036C>G
c.4575C>G (p.Ile1525Met)
c.3852C>G (p.Ile1284Met)
c.2403C>G (p.Ile801Met)
2g.165386799C>TCA429972491SCN2Ac.4605C>T (p.Ile1535=)
c.*2924C>T (n.*2924C>T)
c.*2592C>T (n.*2592C>T)
c.*5128C>T (n.*5128C>T)
c.*2547C>T (n.*2547C>T)
c.4209C>T (p.Ile1403=)
n.8036C>T
c.4575C>T (p.Ile1525=)
c.3852C>T (p.Ile1284=)
c.2403C>T (p.Ile801=)
2g.165386800A=CA1304563752SCN2Ac.4606A= (p.Ser1536=)
c.*2925A= (n.*2925A=)
c.*2593A= (n.*2593A=)
c.*5129A= (n.*5129A=)
c.*2548A= (n.*2548A=)
c.4210A= (p.Ser1404=)
n.8037A=
c.4576A= (p.Ser1526=)
c.3853A= (p.Ser1285=)
c.2404A= (p.Ser802=)
2g.165386800A>CCA349036271SCN2Ac.4606A>C (p.Ser1536Arg)
c.*2925A>C (n.*2925A>C)
c.*2593A>C (n.*2593A>C)
c.*5129A>C (n.*5129A>C)
c.*2548A>C (n.*2548A>C)
c.4210A>C (p.Ser1404Arg)
n.8037A>C
c.4576A>C (p.Ser1526Arg)
c.3853A>C (p.Ser1285Arg)
c.2404A>C (p.Ser802Arg)
2g.165386800A>GCA349036273SCN2Ac.4606A>G (p.Ser1536Gly)
c.*2925A>G (n.*2925A>G)
c.*2593A>G (n.*2593A>G)
c.*5129A>G (n.*5129A>G)
c.*2548A>G (n.*2548A>G)
c.4210A>G (p.Ser1404Gly)
n.8037A>G
c.4576A>G (p.Ser1526Gly)
c.3853A>G (p.Ser1285Gly)
c.2404A>G (p.Ser802Gly)
 ClinVar dbSNP
2g.165386800A>TCA349036272SCN2Ac.4606A>T (p.Ser1536Cys)
c.*2925A>T (n.*2925A>T)
c.*2593A>T (n.*2593A>T)
c.*5129A>T (n.*5129A>T)
c.*2548A>T (n.*2548A>T)
c.4210A>T (p.Ser1404Cys)
n.8037A>T
c.4576A>T (p.Ser1526Cys)
c.3853A>T (p.Ser1285Cys)
c.2404A>T (p.Ser802Cys)
2g.165386801G>ACA59750878SCN2Ac.4607G>A (p.Ser1536Asn)
c.*2926G>A (n.*2926G>A)
c.*2594G>A (n.*2594G>A)
c.*5130G>A (n.*5130G>A)
c.*2549G>A (n.*2549G>A)
c.4211G>A (p.Ser1404Asn)
n.8038G>A
c.4577G>A (p.Ser1526Asn)
c.3854G>A (p.Ser1285Asn)
c.2405G>A (p.Ser802Asn)
 ClinVar dbSNP
2g.165386801G>CCA349036274SCN2Ac.4607G>C (p.Ser1536Thr)
c.*2926G>C (n.*2926G>C)
c.*2594G>C (n.*2594G>C)
c.*5130G>C (n.*5130G>C)
c.*2549G>C (n.*2549G>C)
c.4211G>C (p.Ser1404Thr)
n.8038G>C
c.4577G>C (p.Ser1526Thr)
c.3854G>C (p.Ser1285Thr)
c.2405G>C (p.Ser802Thr)
2g.165386801G=CA1304563753SCN2Ac.4607G= (p.Ser1536=)
c.*2926G= (n.*2926G=)
c.*2594G= (n.*2594G=)
c.*5130G= (n.*5130G=)
c.*2549G= (n.*2549G=)
c.4211G= (p.Ser1404=)
n.8038G=
c.4577G= (p.Ser1526=)
c.3854G= (p.Ser1285=)
c.2405G= (p.Ser802=)
2g.165386801G>TCA349036275SCN2Ac.4607G>T (p.Ser1536Ile)
c.*2926G>T (n.*2926G>T)
c.*2594G>T (n.*2594G>T)
c.*5130G>T (n.*5130G>T)
c.*2549G>T (n.*2549G>T)
c.4211G>T (p.Ser1404Ile)
n.8038G>T
c.4577G>T (p.Ser1526Ile)
c.3854G>T (p.Ser1285Ile)
c.2405G>T (p.Ser802Ile)
2g.165386802C>ACA349036276SCN2Ac.4608C>A (p.Ser1536Arg)
c.*2927C>A (n.*2927C>A)
c.*2595C>A (n.*2595C>A)
c.*5131C>A (n.*5131C>A)
c.*2550C>A (n.*2550C>A)
c.4212C>A (p.Ser1404Arg)
n.8039C>A
c.4578C>A (p.Ser1526Arg)
c.3855C>A (p.Ser1285Arg)
c.2406C>A (p.Ser802Arg)
2g.165386802C=CA1304563754SCN2Ac.4608C= (p.Ser1536=)
c.*2927C= (n.*2927C=)
c.*2595C= (n.*2595C=)
c.*5131C= (n.*5131C=)
c.*2550C= (n.*2550C=)
c.4212C= (p.Ser1404=)
n.8039C=
c.4578C= (p.Ser1526=)
c.3855C= (p.Ser1285=)
c.2406C= (p.Ser802=)
2g.165386802C>GCA349036277SCN2Ac.4608C>G (p.Ser1536Arg)
c.*2927C>G (n.*2927C>G)
c.*2595C>G (n.*2595C>G)
c.*5131C>G (n.*5131C>G)
c.*2550C>G (n.*2550C>G)
c.4212C>G (p.Ser1404Arg)
n.8039C>G
c.4578C>G (p.Ser1526Arg)
c.3855C>G (p.Ser1285Arg)
c.2406C>G (p.Ser802Arg)
2g.165386802C>TCA1940306SCN2Ac.4608C>T (p.Ser1536=)
c.*2927C>T (n.*2927C>T)
c.*2595C>T (n.*2595C>T)
c.*5131C>T (n.*5131C>T)
c.*2550C>T (n.*2550C>T)
c.4212C>T (p.Ser1404=)
n.8039C>T
c.4578C>T (p.Ser1526=)
c.3855C>T (p.Ser1285=)
c.2406C>T (p.Ser802=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386803A>CCA349036278SCN2Ac.4609A>C (p.Ile1537Leu)
c.*2928A>C (n.*2928A>C)
c.*2596A>C (n.*2596A>C)
c.*5132A>C (n.*5132A>C)
c.*2551A>C (n.*2551A>C)
c.4213A>C (p.Ile1405Leu)
n.8040A>C
c.4579A>C (p.Ile1527Leu)
c.3856A>C (p.Ile1286Leu)
c.2407A>C (p.Ile803Leu)
2g.165386803A>GCA349036279SCN2Ac.4609A>G (p.Ile1537Val)
c.*2928A>G (n.*2928A>G)
c.*2596A>G (n.*2596A>G)
c.*5132A>G (n.*5132A>G)
c.*2551A>G (n.*2551A>G)
c.4213A>G (p.Ile1405Val)
n.8040A>G
c.4579A>G (p.Ile1527Val)
c.3856A>G (p.Ile1286Val)
c.2407A>G (p.Ile803Val)
 gnomAD v4
2g.165386803A>TCA349036280SCN2Ac.4609A>T (p.Ile1537Phe)
c.*2928A>T (n.*2928A>T)
c.*2596A>T (n.*2596A>T)
c.*5132A>T (n.*5132A>T)
c.*2551A>T (n.*2551A>T)
c.4213A>T (p.Ile1405Phe)
n.8040A>T
c.4579A>T (p.Ile1527Phe)
c.3856A>T (p.Ile1286Phe)
c.2407A>T (p.Ile803Phe)
2g.165386804T>ACA349036281SCN2Ac.4610T>A (p.Ile1537Asn)
c.*2929T>A (n.*2929T>A)
c.*2597T>A (n.*2597T>A)
c.*5133T>A (n.*5133T>A)
c.*2552T>A (n.*2552T>A)
c.4214T>A (p.Ile1405Asn)
n.8041T>A
c.4580T>A (p.Ile1527Asn)
c.3857T>A (p.Ile1286Asn)
c.2408T>A (p.Ile803Asn)
2g.165386804T>CCA349036282SCN2Ac.4610T>C (p.Ile1537Thr)
c.*2929T>C (n.*2929T>C)
c.*2597T>C (n.*2597T>C)
c.*5133T>C (n.*5133T>C)
c.*2552T>C (n.*2552T>C)
c.4214T>C (p.Ile1405Thr)
n.8041T>C
c.4580T>C (p.Ile1527Thr)
c.3857T>C (p.Ile1286Thr)
c.2408T>C (p.Ile803Thr)
 ClinVar dbSNP
2g.165386804T>GCA317982SCN2Ac.4610T>G (p.Ile1537Ser)
c.*2929T>G (n.*2929T>G)
c.*2597T>G (n.*2597T>G)
c.*5133T>G (n.*5133T>G)
c.*2552T>G (n.*2552T>G)
c.4214T>G (p.Ile1405Ser)
n.8041T>G
c.4580T>G (p.Ile1527Ser)
c.3857T>G (p.Ile1286Ser)
c.2408T>G (p.Ile803Ser)
 dbSNP
2g.165386804T=CA1304563756SCN2Ac.4610T= (p.Ile1537=)
c.*2929T= (n.*2929T=)
c.*2597T= (n.*2597T=)
c.*5133T= (n.*5133T=)
c.*2552T= (n.*2552T=)
c.4214T= (p.Ile1405=)
n.8041T=
c.4580T= (p.Ile1527=)
c.3857T= (p.Ile1286=)
c.2408T= (p.Ile803=)
2g.165386804_165386808delinsGCATCCA318182SCN2Ac.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle)
c.*2929_*2933delinsGCATC (n.*2929_*2933delinsGCATC)
c.*2597_*2601delinsGCATC (n.*2597_*2601delinsGCATC)
c.*5133_*5137delinsGCATC (n.*5133_*5137delinsGCATC)
c.*2552_*2556delinsGCATC (n.*2552_*2556delinsGCATC)
c.4214_4218delinsGCATC (p.Ile1405_Met1406delinsSerIle)
n.8041_8045delinsGCATC
c.4580_4584delinsGCATC (p.Ile1527_Met1528delinsSerIle)
c.3857_3861delinsGCATC (p.Ile1286_Met1287delinsSerIle)
c.2408_2412delinsGCATC (p.Ile803_Met804delinsSerIle)
 ClinVar dbSNP
2g.165386804_165386808delinsTCATGCA1304563755SCN2Ac.4610_4614delinsTCATG (p.Ile1537=)
c.*2929_*2933delinsTCATG (n.*2929_*2933delinsTCATG)
c.*2597_*2601delinsTCATG (n.*2597_*2601delinsTCATG)
c.*5133_*5137delinsTCATG (n.*5133_*5137delinsTCATG)
c.*2552_*2556delinsTCATG (n.*2552_*2556delinsTCATG)
c.4214_4218delinsTCATG (p.Ile1405=)
n.8041_8045delinsTCATG
c.4580_4584delinsTCATG (p.Ile1527=)
c.3857_3861delinsTCATG (p.Ile1286=)
c.2408_2412delinsTCATG (p.Ile803=)
2g.165386805C>ACA429972500SCN2Ac.4611C>A (p.Ile1537=)
c.*2930C>A (n.*2930C>A)
c.*2598C>A (n.*2598C>A)
c.*5134C>A (n.*5134C>A)
c.*2553C>A (n.*2553C>A)
c.4215C>A (p.Ile1405=)
n.8042C>A
c.4581C>A (p.Ile1527=)
c.3858C>A (p.Ile1286=)
c.2409C>A (p.Ile803=)
2g.165386805C>GCA349036283SCN2Ac.4611C>G (p.Ile1537Met)
c.*2930C>G (n.*2930C>G)
c.*2598C>G (n.*2598C>G)
c.*5134C>G (n.*5134C>G)
c.*2553C>G (n.*2553C>G)
c.4215C>G (p.Ile1405Met)
n.8042C>G
c.4581C>G (p.Ile1527Met)
c.3858C>G (p.Ile1286Met)
c.2409C>G (p.Ile803Met)
2g.165386805C>TCA429972502SCN2Ac.4611C>T (p.Ile1537=)
c.*2930C>T (n.*2930C>T)
c.*2598C>T (n.*2598C>T)
c.*5134C>T (n.*5134C>T)
c.*2553C>T (n.*2553C>T)
c.4215C>T (p.Ile1405=)
n.8042C>T
c.4581C>T (p.Ile1527=)
c.3858C>T (p.Ile1286=)
c.2409C>T (p.Ile803=)
2g.165386806A=CA1304563757SCN2Ac.4612A= (p.Met1538=)
c.*2931A= (n.*2931A=)
c.*2599A= (n.*2599A=)
c.*5135A= (n.*5135A=)
c.*2554A= (n.*2554A=)
c.4216A= (p.Met1406=)
n.8043A=
c.4582A= (p.Met1528=)
c.3859A= (p.Met1287=)
c.2410A= (p.Met804=)
2g.165386806A>CCA349036284SCN2Ac.4612A>C (p.Met1538Leu)
c.*2931A>C (n.*2931A>C)
c.*2599A>C (n.*2599A>C)
c.*5135A>C (n.*5135A>C)
c.*2554A>C (n.*2554A>C)
c.4216A>C (p.Met1406Leu)
n.8043A>C
c.4582A>C (p.Met1528Leu)
c.3859A>C (p.Met1287Leu)
c.2410A>C (p.Met804Leu)
2g.165386806A>GCA317988SCN2Ac.4612A>G (p.Met1538Val)
c.*2931A>G (n.*2931A>G)
c.*2599A>G (n.*2599A>G)
c.*5135A>G (n.*5135A>G)
c.*2554A>G (n.*2554A>G)
c.4216A>G (p.Met1406Val)
n.8043A>G
c.4582A>G (p.Met1528Val)
c.3859A>G (p.Met1287Val)
c.2410A>G (p.Met804Val)
 ClinVar dbSNP
2g.165386806A>TCA349036285SCN2Ac.4612A>T (p.Met1538Leu)
c.*2931A>T (n.*2931A>T)
c.*2599A>T (n.*2599A>T)
c.*5135A>T (n.*5135A>T)
c.*2554A>T (n.*2554A>T)
c.4216A>T (p.Met1406Leu)
n.8043A>T
c.4582A>T (p.Met1528Leu)
c.3859A>T (p.Met1287Leu)
c.2410A>T (p.Met804Leu)
2g.165386807T>ACA349036286SCN2Ac.4613T>A (p.Met1538Lys)
c.*2932T>A (n.*2932T>A)
c.*2600T>A (n.*2600T>A)
c.*5136T>A (n.*5136T>A)
c.*2555T>A (n.*2555T>A)
c.4217T>A (p.Met1406Lys)
n.8044T>A
c.4583T>A (p.Met1528Lys)
c.3860T>A (p.Met1287Lys)
c.2411T>A (p.Met804Lys)
2g.165386807T>CCA349036288SCN2Ac.4613T>C (p.Met1538Thr)
c.*2932T>C (n.*2932T>C)
c.*2600T>C (n.*2600T>C)
c.*5136T>C (n.*5136T>C)
c.*2555T>C (n.*2555T>C)
c.4217T>C (p.Met1406Thr)
n.8044T>C
c.4583T>C (p.Met1528Thr)
c.3860T>C (p.Met1287Thr)
c.2411T>C (p.Met804Thr)
2g.165386807T>GCA349036287SCN2Ac.4613T>G (p.Met1538Arg)
c.*2932T>G (n.*2932T>G)
c.*2600T>G (n.*2600T>G)
c.*5136T>G (n.*5136T>G)
c.*2555T>G (n.*2555T>G)
c.4217T>G (p.Met1406Arg)
n.8044T>G
c.4583T>G (p.Met1528Arg)
c.3860T>G (p.Met1287Arg)
c.2411T>G (p.Met804Arg)
2g.165386808G>ACA349036289SCN2Ac.4614G>A (p.Met1538Ile)
c.*2933G>A (n.*2933G>A)
c.*2601G>A (n.*2601G>A)
c.*5137G>A (n.*5137G>A)
c.*2556G>A (n.*2556G>A)
c.4218G>A (p.Met1406Ile)
n.8045G>A
c.4584G>A (p.Met1528Ile)
c.3861G>A (p.Met1287Ile)
c.2412G>A (p.Met804Ile)
 ClinVar dbSNP
2g.165386808G>CCA317991SCN2Ac.4614G>C (p.Met1538Ile)
c.*2933G>C (n.*2933G>C)
c.*2601G>C (n.*2601G>C)
c.*5137G>C (n.*5137G>C)
c.*2556G>C (n.*2556G>C)
c.4218G>C (p.Met1406Ile)
n.8045G>C
c.4584G>C (p.Met1528Ile)
c.3861G>C (p.Met1287Ile)
c.2412G>C (p.Met804Ile)
 ClinVar dbSNP gnomAD v4
2g.165386808G=CA1304563758SCN2Ac.4614G= (p.Met1538=)
c.*2933G= (n.*2933G=)
c.*2601G= (n.*2601G=)
c.*5137G= (n.*5137G=)
c.*2556G= (n.*2556G=)
c.4218G= (p.Met1406=)
n.8045G=
c.4584G= (p.Met1528=)
c.3861G= (p.Met1287=)
c.2412G= (p.Met804=)
2g.165386808G>TCA349036290SCN2Ac.4614G>T (p.Met1538Ile)
c.*2933G>T (n.*2933G>T)
c.*2601G>T (n.*2601G>T)
c.*5137G>T (n.*5137G>T)
c.*2556G>T (n.*2556G>T)
c.4218G>T (p.Met1406Ile)
n.8045G>T
c.4584G>T (p.Met1528Ile)
c.3861G>T (p.Met1287Ile)
c.2412G>T (p.Met804Ile)
 ClinVar dbSNP
2g.165386809A=CA1304563759SCN2Ac.4615A= (p.Ile1539=)
c.*2934A= (n.*2934A=)
c.*2602A= (n.*2602A=)
c.*5138A= (n.*5138A=)
c.*2557A= (n.*2557A=)
c.4219A= (p.Ile1407=)
n.8046A=
c.4585A= (p.Ile1529=)
c.3862A= (p.Ile1288=)
c.2413A= (p.Ile805=)
2g.165386809A>CCA349036291SCN2Ac.4615A>C (p.Ile1539Leu)
c.*2934A>C (n.*2934A>C)
c.*2602A>C (n.*2602A>C)
c.*5138A>C (n.*5138A>C)
c.*2557A>C (n.*2557A>C)
c.4219A>C (p.Ile1407Leu)
n.8046A>C
c.4585A>C (p.Ile1529Leu)
c.3862A>C (p.Ile1288Leu)
c.2413A>C (p.Ile805Leu)
2g.165386809A>GCA1940307SCN2Ac.4615A>G (p.Ile1539Val)
c.*2934A>G (n.*2934A>G)
c.*2602A>G (n.*2602A>G)
c.*5138A>G (n.*5138A>G)
c.*2557A>G (n.*2557A>G)
c.4219A>G (p.Ile1407Val)
n.8046A>G
c.4585A>G (p.Ile1529Val)
c.3862A>G (p.Ile1288Val)
c.2413A>G (p.Ile805Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386809A>TCA349036292SCN2Ac.4615A>T (p.Ile1539Phe)
c.*2934A>T (n.*2934A>T)
c.*2602A>T (n.*2602A>T)
c.*5138A>T (n.*5138A>T)
c.*2557A>T (n.*2557A>T)
c.4219A>T (p.Ile1407Phe)
n.8046A>T
c.4585A>T (p.Ile1529Phe)
c.3862A>T (p.Ile1288Phe)
c.2413A>T (p.Ile805Phe)
 dbSNP gnomAD v2
2g.165386810T>ACA349036293SCN2Ac.4616T>A (p.Ile1539Asn)
c.*2935T>A (n.*2935T>A)
c.*2603T>A (n.*2603T>A)
c.*5139T>A (n.*5139T>A)
c.*2558T>A (n.*2558T>A)
c.4220T>A (p.Ile1407Asn)
n.8047T>A
c.4586T>A (p.Ile1529Asn)
c.3863T>A (p.Ile1288Asn)
c.2414T>A (p.Ile805Asn)
2g.165386810T>CCA349036294SCN2Ac.4616T>C (p.Ile1539Thr)
c.*2935T>C (n.*2935T>C)
c.*2603T>C (n.*2603T>C)
c.*5139T>C (n.*5139T>C)
c.*2558T>C (n.*2558T>C)
c.4220T>C (p.Ile1407Thr)
n.8047T>C
c.4586T>C (p.Ile1529Thr)
c.3863T>C (p.Ile1288Thr)
c.2414T>C (p.Ile805Thr)
2g.165386810T>GCA349036295SCN2Ac.4616T>G (p.Ile1539Ser)
c.*2935T>G (n.*2935T>G)
c.*2603T>G (n.*2603T>G)
c.*5139T>G (n.*5139T>G)
c.*2558T>G (n.*2558T>G)
c.4220T>G (p.Ile1407Ser)
n.8047T>G
c.4586T>G (p.Ile1529Ser)
c.3863T>G (p.Ile1288Ser)
c.2414T>G (p.Ile805Ser)
2g.165386811C>ACA1940308SCN2Ac.4617C>A (p.Ile1539=)
c.*2936C>A (n.*2936C>A)
c.*2604C>A (n.*2604C>A)
c.*5140C>A (n.*5140C>A)
c.*2559C>A (n.*2559C>A)
c.4221C>A (p.Ile1407=)
n.8048C>A
c.4587C>A (p.Ile1529=)
c.3864C>A (p.Ile1288=)
c.2415C>A (p.Ile805=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386811C=CA1304563760SCN2Ac.4617C= (p.Ile1539=)
c.*2936C= (n.*2936C=)
c.*2604C= (n.*2604C=)
c.*5140C= (n.*5140C=)
c.*2559C= (n.*2559C=)
c.4221C= (p.Ile1407=)
n.8048C=
c.4587C= (p.Ile1529=)
c.3864C= (p.Ile1288=)
c.2415C= (p.Ile805=)
2g.165386811C>GCA349036296SCN2Ac.4617C>G (p.Ile1539Met)
c.*2936C>G (n.*2936C>G)
c.*2604C>G (n.*2604C>G)
c.*5140C>G (n.*5140C>G)
c.*2559C>G (n.*2559C>G)
c.4221C>G (p.Ile1407Met)
n.8048C>G
c.4587C>G (p.Ile1529Met)
c.3864C>G (p.Ile1288Met)
c.2415C>G (p.Ile805Met)
2g.165386811C>TCA429972508SCN2Ac.4617C>T (p.Ile1539=)
c.*2936C>T (n.*2936C>T)
c.*2604C>T (n.*2604C>T)
c.*5140C>T (n.*5140C>T)
c.*2559C>T (n.*2559C>T)
c.4221C>T (p.Ile1407=)
n.8048C>T
c.4587C>T (p.Ile1529=)
c.3864C>T (p.Ile1288=)
c.2415C>T (p.Ile805=)
 dbSNP gnomAD v2
2g.165386812C>ACA349036298SCN2Ac.4618C>A (p.Leu1540Ile)
c.*2937C>A (n.*2937C>A)
c.*2605C>A (n.*2605C>A)
c.*5141C>A (n.*5141C>A)
c.*2560C>A (n.*2560C>A)
c.4222C>A (p.Leu1408Ile)
n.8049C>A
c.4588C>A (p.Leu1530Ile)
c.3865C>A (p.Leu1289Ile)
c.2416C>A (p.Leu806Ile)
2g.165386812C=CA1304563761SCN2Ac.4618C= (p.Leu1540=)
c.*2937C= (n.*2937C=)
c.*2605C= (n.*2605C=)
c.*5141C= (n.*5141C=)
c.*2560C= (n.*2560C=)
c.4222C= (p.Leu1408=)
n.8049C=
c.4588C= (p.Leu1530=)
c.3865C= (p.Leu1289=)
c.2416C= (p.Leu806=)
2g.165386812C>GCA349036297SCN2Ac.4618C>G (p.Leu1540Val)
c.*2937C>G (n.*2937C>G)
c.*2605C>G (n.*2605C>G)
c.*5141C>G (n.*5141C>G)
c.*2560C>G (n.*2560C>G)
c.4222C>G (p.Leu1408Val)
n.8049C>G
c.4588C>G (p.Leu1530Val)
c.3865C>G (p.Leu1289Val)
c.2416C>G (p.Leu806Val)
2g.165386812C>TCA1940309SCN2Ac.4618C>T (p.Leu1540Phe)
c.*2937C>T (n.*2937C>T)
c.*2605C>T (n.*2605C>T)
c.*5141C>T (n.*5141C>T)
c.*2560C>T (n.*2560C>T)
c.4222C>T (p.Leu1408Phe)
n.8049C>T
c.4588C>T (p.Leu1530Phe)
c.3865C>T (p.Leu1289Phe)
c.2416C>T (p.Leu806Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165386813T>ACA349036299SCN2Ac.4619T>A (p.Leu1540His)
c.*2938T>A (n.*2938T>A)
c.*2606T>A (n.*2606T>A)
c.*5142T>A (n.*5142T>A)
c.*2561T>A (n.*2561T>A)
c.4223T>A (p.Leu1408His)
n.8050T>A
c.4589T>A (p.Leu1530His)
c.3866T>A (p.Leu1289His)
c.2417T>A (p.Leu806His)
2g.165386813T>CCA349036300SCN2Ac.4619T>C (p.Leu1540Pro)
c.*2938T>C (n.*2938T>C)
c.*2606T>C (n.*2606T>C)
c.*5142T>C (n.*5142T>C)
c.*2561T>C (n.*2561T>C)
c.4223T>C (p.Leu1408Pro)
n.8050T>C
c.4589T>C (p.Leu1530Pro)
c.3866T>C (p.Leu1289Pro)
c.2417T>C (p.Leu806Pro)
2g.165386813T>GCA349036301SCN2Ac.4619T>G (p.Leu1540Arg)
c.*2938T>G (n.*2938T>G)
c.*2606T>G (n.*2606T>G)
c.*5142T>G (n.*5142T>G)
c.*2561T>G (n.*2561T>G)
c.4223T>G (p.Leu1408Arg)
n.8050T>G
c.4589T>G (p.Leu1530Arg)
c.3866T>G (p.Leu1289Arg)
c.2417T>G (p.Leu806Arg)
2g.165386814C>ACA429972510SCN2Ac.4620C>A (p.Leu1540=)
c.*2939C>A (n.*2939C>A)
c.*2607C>A (n.*2607C>A)
c.*5143C>A (n.*5143C>A)
c.*2562C>A (n.*2562C>A)
c.4224C>A (p.Leu1408=)
n.8051C>A
c.4590C>A (p.Leu1530=)
c.3867C>A (p.Leu1289=)
c.2418C>A (p.Leu806=)
2g.165386814C=CA1304563762SCN2Ac.4620C= (p.Leu1540=)
c.*2939C= (n.*2939C=)
c.*2607C= (n.*2607C=)
c.*5143C= (n.*5143C=)
c.*2562C= (n.*2562C=)
c.4224C= (p.Leu1408=)
n.8051C=
c.4590C= (p.Leu1530=)
c.3867C= (p.Leu1289=)
c.2418C= (p.Leu806=)
2g.165386814C>GCA429972512SCN2Ac.4620C>G (p.Leu1540=)
c.*2939C>G (n.*2939C>G)
c.*2607C>G (n.*2607C>G)
c.*5143C>G (n.*5143C>G)
c.*2562C>G (n.*2562C>G)
c.4224C>G (p.Leu1408=)
n.8051C>G
c.4590C>G (p.Leu1530=)
c.3867C>G (p.Leu1289=)
c.2418C>G (p.Leu806=)
2g.165386814C>TCA1940310SCN2Ac.4620C>T (p.Leu1540=)
c.*2939C>T (n.*2939C>T)
c.*2607C>T (n.*2607C>T)
c.*5143C>T (n.*5143C>T)
c.*2562C>T (n.*2562C>T)
c.4224C>T (p.Leu1408=)
n.8051C>T
c.4590C>T (p.Leu1530=)
c.3867C>T (p.Leu1289=)
c.2418C>T (p.Leu806=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386815A>CCA349036302SCN2Ac.4621A>C (p.Ile1541Leu)
c.*2940A>C (n.*2940A>C)
c.*2608A>C (n.*2608A>C)
c.*5144A>C (n.*5144A>C)
c.*2563A>C (n.*2563A>C)
c.4225A>C (p.Ile1409Leu)
n.8052A>C
c.4591A>C (p.Ile1531Leu)
c.3868A>C (p.Ile1290Leu)
c.2419A>C (p.Ile807Leu)
2g.165386815A>GCA349036303SCN2Ac.4621A>G (p.Ile1541Val)
c.*2940A>G (n.*2940A>G)
c.*2608A>G (n.*2608A>G)
c.*5144A>G (n.*5144A>G)
c.*2563A>G (n.*2563A>G)
c.4225A>G (p.Ile1409Val)
n.8052A>G
c.4591A>G (p.Ile1531Val)
c.3868A>G (p.Ile1290Val)
c.2419A>G (p.Ile807Val)
2g.165386815A>TCA349036304SCN2Ac.4621A>T (p.Ile1541Phe)
c.*2940A>T (n.*2940A>T)
c.*2608A>T (n.*2608A>T)
c.*5144A>T (n.*5144A>T)
c.*2563A>T (n.*2563A>T)
c.4225A>T (p.Ile1409Phe)
n.8052A>T
c.4591A>T (p.Ile1531Phe)
c.3868A>T (p.Ile1290Phe)
c.2419A>T (p.Ile807Phe)
2g.165386816T>ACA349036305SCN2Ac.4622T>A (p.Ile1541Asn)
c.*2941T>A (n.*2941T>A)
c.*2609T>A (n.*2609T>A)
c.*5145T>A (n.*5145T>A)
c.*2564T>A (n.*2564T>A)
c.4226T>A (p.Ile1409Asn)
n.8053T>A
c.4592T>A (p.Ile1531Asn)
c.3869T>A (p.Ile1290Asn)
c.2420T>A (p.Ile807Asn)
 ClinVar
2g.165386816T>CCA349036306SCN2Ac.4622T>C (p.Ile1541Thr)
c.*2941T>C (n.*2941T>C)
c.*2609T>C (n.*2609T>C)
c.*5145T>C (n.*5145T>C)
c.*2564T>C (n.*2564T>C)
c.4226T>C (p.Ile1409Thr)
n.8053T>C
c.4592T>C (p.Ile1531Thr)
c.3869T>C (p.Ile1290Thr)
c.2420T>C (p.Ile807Thr)
2g.165386816T>GCA349036307SCN2Ac.4622T>G (p.Ile1541Ser)
c.*2941T>G (n.*2941T>G)
c.*2609T>G (n.*2609T>G)
c.*5145T>G (n.*5145T>G)
c.*2564T>G (n.*2564T>G)
c.4226T>G (p.Ile1409Ser)
n.8053T>G
c.4592T>G (p.Ile1531Ser)
c.3869T>G (p.Ile1290Ser)
c.2420T>G (p.Ile807Ser)
2g.165386817C>ACA429972518SCN2Ac.4623C>A (p.Ile1541=)
c.*2942C>A (n.*2942C>A)
c.*2610C>A (n.*2610C>A)
c.*5146C>A (n.*5146C>A)
c.*2565C>A (n.*2565C>A)
c.4227C>A (p.Ile1409=)
n.8054C>A
c.4593C>A (p.Ile1531=)
c.3870C>A (p.Ile1290=)
c.2421C>A (p.Ile807=)
2g.165386817C>GCA349036308SCN2Ac.4623C>G (p.Ile1541Met)
c.*2942C>G (n.*2942C>G)
c.*2610C>G (n.*2610C>G)
c.*5146C>G (n.*5146C>G)
c.*2565C>G (n.*2565C>G)
c.4227C>G (p.Ile1409Met)
n.8054C>G
c.4593C>G (p.Ile1531Met)
c.3870C>G (p.Ile1290Met)
c.2421C>G (p.Ile807Met)
 ClinVar
2g.165386817C>TCA429972515SCN2Ac.4623C>T (p.Ile1541=)
c.*2942C>T (n.*2942C>T)
c.*2610C>T (n.*2610C>T)
c.*5146C>T (n.*5146C>T)
c.*2565C>T (n.*2565C>T)
c.4227C>T (p.Ile1409=)
n.8054C>T
c.4593C>T (p.Ile1531=)
c.3870C>T (p.Ile1290=)
c.2421C>T (p.Ile807=)
2g.165386818T>ACA349036311SCN2Ac.4624T>A (p.Cys1542Ser)
c.*2943T>A (n.*2943T>A)
c.*2611T>A (n.*2611T>A)
c.*5147T>A (n.*5147T>A)
c.*2566T>A (n.*2566T>A)
c.4228T>A (p.Cys1410Ser)
n.8055T>A
c.4594T>A (p.Cys1532Ser)
c.3871T>A (p.Cys1291Ser)
c.2422T>A (p.Cys808Ser)
2g.165386818T>CCA349036310SCN2Ac.4624T>C (p.Cys1542Arg)
c.*2943T>C (n.*2943T>C)
c.*2611T>C (n.*2611T>C)
c.*5147T>C (n.*5147T>C)
c.*2566T>C (n.*2566T>C)
c.4228T>C (p.Cys1410Arg)
n.8055T>C
c.4594T>C (p.Cys1532Arg)
c.3871T>C (p.Cys1291Arg)
c.2422T>C (p.Cys808Arg)
2g.165386818T>GCA349036309SCN2Ac.4624T>G (p.Cys1542Gly)
c.*2943T>G (n.*2943T>G)
c.*2611T>G (n.*2611T>G)
c.*5147T>G (n.*5147T>G)
c.*2566T>G (n.*2566T>G)
c.4228T>G (p.Cys1410Gly)
n.8055T>G
c.4594T>G (p.Cys1532Gly)
c.3871T>G (p.Cys1291Gly)
c.2422T>G (p.Cys808Gly)
2g.165386819G>ACA349036312SCN2Ac.4625G>A (p.Cys1542Tyr)
c.*2944G>A (n.*2944G>A)
c.*2612G>A (n.*2612G>A)
c.*5148G>A (n.*5148G>A)
c.*2567G>A (n.*2567G>A)
c.4229G>A (p.Cys1410Tyr)
n.8056G>A
c.4595G>A (p.Cys1532Tyr)
c.3872G>A (p.Cys1291Tyr)
c.2423G>A (p.Cys808Tyr)
2g.165386819G>CCA349036313SCN2Ac.4625G>C (p.Cys1542Ser)
c.*2944G>C (n.*2944G>C)
c.*2612G>C (n.*2612G>C)
c.*5148G>C (n.*5148G>C)
c.*2567G>C (n.*2567G>C)
c.4229G>C (p.Cys1410Ser)
n.8056G>C
c.4595G>C (p.Cys1532Ser)
c.3872G>C (p.Cys1291Ser)
c.2423G>C (p.Cys808Ser)
 ClinVar
2g.165386819G=CA1304563763SCN2Ac.4625G= (p.Cys1542=)
c.*2944G= (n.*2944G=)
c.*2612G= (n.*2612G=)
c.*5148G= (n.*5148G=)
c.*2567G= (n.*2567G=)
c.4229G= (p.Cys1410=)
n.8056G=
c.4595G= (p.Cys1532=)
c.3872G= (p.Cys1291=)
c.2423G= (p.Cys808=)
2g.165386819G>TCA349036314SCN2Ac.4625G>T (p.Cys1542Phe)
c.*2944G>T (n.*2944G>T)
c.*2612G>T (n.*2612G>T)
c.*5148G>T (n.*5148G>T)
c.*2567G>T (n.*2567G>T)
c.4229G>T (p.Cys1410Phe)
n.8056G>T
c.4595G>T (p.Cys1532Phe)
c.3872G>T (p.Cys1291Phe)
c.2423G>T (p.Cys808Phe)
 dbSNP
2g.165386820C>ACA349036315SCN2Ac.4626C>A (p.Cys1542Ter)
c.*2945C>A (n.*2945C>A)
c.*2613C>A (n.*2613C>A)
c.*5149C>A (n.*5149C>A)
c.*2568C>A (n.*2568C>A)
c.4230C>A (p.Cys1410Ter)
n.8057C>A
c.4596C>A (p.Cys1532Ter)
c.3873C>A (p.Cys1291Ter)
c.2424C>A (p.Cys808Ter)
 dbSNP
2g.165386820C=CA1304563764SCN2Ac.4626C= (p.Cys1542=)
c.*2945C= (n.*2945C=)
c.*2613C= (n.*2613C=)
c.*5149C= (n.*5149C=)
c.*2568C= (n.*2568C=)
c.4230C= (p.Cys1410=)
n.8057C=
c.4596C= (p.Cys1532=)
c.3873C= (p.Cys1291=)
c.2424C= (p.Cys808=)
2g.165386820C>GCA349036316SCN2Ac.4626C>G (p.Cys1542Trp)
c.*2945C>G (n.*2945C>G)
c.*2613C>G (n.*2613C>G)
c.*5149C>G (n.*5149C>G)
c.*2568C>G (n.*2568C>G)
c.4230C>G (p.Cys1410Trp)
n.8057C>G
c.4596C>G (p.Cys1532Trp)
c.3873C>G (p.Cys1291Trp)
c.2424C>G (p.Cys808Trp)
2g.165386820C>TCA429972525SCN2Ac.4626C>T (p.Cys1542=)
c.*2945C>T (n.*2945C>T)
c.*2613C>T (n.*2613C>T)
c.*5149C>T (n.*5149C>T)
c.*2568C>T (n.*2568C>T)
c.4230C>T (p.Cys1410=)
n.8057C>T
c.4596C>T (p.Cys1532=)
c.3873C>T (p.Cys1291=)
c.2424C>T (p.Cys808=)
 ClinVar dbSNP gnomAD v4
2g.165386821C>ACA349036319SCN2Ac.4627C>A (p.Leu1543Ile)
c.*2946C>A (n.*2946C>A)
c.*2614C>A (n.*2614C>A)
c.*5150C>A (n.*5150C>A)
c.*2569C>A (n.*2569C>A)
c.4231C>A (p.Leu1411Ile)
n.8058C>A
c.4597C>A (p.Leu1533Ile)
c.3874C>A (p.Leu1292Ile)
c.2425C>A (p.Leu809Ile)
2g.165386821C>GCA349036318SCN2Ac.4627C>G (p.Leu1543Val)
c.*2946C>G (n.*2946C>G)
c.*2614C>G (n.*2614C>G)
c.*5150C>G (n.*5150C>G)
c.*2569C>G (n.*2569C>G)
c.4231C>G (p.Leu1411Val)
n.8058C>G
c.4597C>G (p.Leu1533Val)
c.3874C>G (p.Leu1292Val)
c.2425C>G (p.Leu809Val)
2g.165386821C>TCA349036317SCN2Ac.4627C>T (p.Leu1543Phe)
c.*2946C>T (n.*2946C>T)
c.*2614C>T (n.*2614C>T)
c.*5150C>T (n.*5150C>T)
c.*2569C>T (n.*2569C>T)
c.4231C>T (p.Leu1411Phe)
n.8058C>T
c.4597C>T (p.Leu1533Phe)
c.3874C>T (p.Leu1292Phe)
c.2425C>T (p.Leu809Phe)
2g.165386822T>ACA349036320SCN2Ac.4628T>A (p.Leu1543His)
c.*2947T>A (n.*2947T>A)
c.*2615T>A (n.*2615T>A)
c.*5151T>A (n.*5151T>A)
c.*2570T>A (n.*2570T>A)
c.4232T>A (p.Leu1411His)
n.8059T>A
c.4598T>A (p.Leu1533His)
c.3875T>A (p.Leu1292His)
c.2426T>A (p.Leu809His)
2g.165386822T>CCA349036321SCN2Ac.4628T>C (p.Leu1543Pro)
c.*2947T>C (n.*2947T>C)
c.*2615T>C (n.*2615T>C)
c.*5151T>C (n.*5151T>C)
c.*2570T>C (n.*2570T>C)
c.4232T>C (p.Leu1411Pro)
n.8059T>C
c.4598T>C (p.Leu1533Pro)
c.3875T>C (p.Leu1292Pro)
c.2426T>C (p.Leu809Pro)
2g.165386822T>GCA349036322SCN2Ac.4628T>G (p.Leu1543Arg)
c.*2947T>G (n.*2947T>G)
c.*2615T>G (n.*2615T>G)
c.*5151T>G (n.*5151T>G)
c.*2570T>G (n.*2570T>G)
c.4232T>G (p.Leu1411Arg)
n.8059T>G
c.4598T>G (p.Leu1533Arg)
c.3875T>G (p.Leu1292Arg)
c.2426T>G (p.Leu809Arg)
2g.165386823T>ACA429972530SCN2Ac.4629T>A (p.Leu1543=)
c.*2948T>A (n.*2948T>A)
c.*2616T>A (n.*2616T>A)
c.*5152T>A (n.*5152T>A)
c.*2571T>A (n.*2571T>A)
c.4233T>A (p.Leu1411=)
n.8060T>A
c.4599T>A (p.Leu1533=)
c.3876T>A (p.Leu1292=)
c.2427T>A (p.Leu809=)
2g.165386823T>CCA429972533SCN2Ac.4629T>C (p.Leu1543=)
c.*2948T>C (n.*2948T>C)
c.*2616T>C (n.*2616T>C)
c.*5152T>C (n.*5152T>C)
c.*2571T>C (n.*2571T>C)
c.4233T>C (p.Leu1411=)
n.8060T>C
c.4599T>C (p.Leu1533=)
c.3876T>C (p.Leu1292=)
c.2427T>C (p.Leu809=)
2g.165386823T>GCA429972532SCN2Ac.4629T>G (p.Leu1543=)
c.*2948T>G (n.*2948T>G)
c.*2616T>G (n.*2616T>G)
c.*5152T>G (n.*5152T>G)
c.*2571T>G (n.*2571T>G)
c.4233T>G (p.Leu1411=)
n.8060T>G
c.4599T>G (p.Leu1533=)
c.3876T>G (p.Leu1292=)
c.2427T>G (p.Leu809=)
 gnomAD v4
2g.165386824A=CA1304563765SCN2Ac.4630A= (p.Asn1544=)
c.*2949A= (n.*2949A=)
c.*2617A= (n.*2617A=)
c.*5153A= (n.*5153A=)
c.*2572A= (n.*2572A=)
c.4234A= (p.Asn1412=)
n.8061A=
c.4600A= (p.Asn1534=)
c.3877A= (p.Asn1293=)
c.2428A= (p.Asn810=)
2g.165386824A>CCA349036323SCN2Ac.4630A>C (p.Asn1544His)
c.*2949A>C (n.*2949A>C)
c.*2617A>C (n.*2617A>C)
c.*5153A>C (n.*5153A>C)
c.*2572A>C (n.*2572A>C)
c.4234A>C (p.Asn1412His)
n.8061A>C
c.4600A>C (p.Asn1534His)
c.3877A>C (p.Asn1293His)
c.2428A>C (p.Asn810His)
2g.165386824A>GCA317994SCN2Ac.4630A>G (p.Asn1544Asp)
c.*2949A>G (n.*2949A>G)
c.*2617A>G (n.*2617A>G)
c.*5153A>G (n.*5153A>G)
c.*2572A>G (n.*2572A>G)
c.4234A>G (p.Asn1412Asp)
n.8061A>G
c.4600A>G (p.Asn1534Asp)
c.3877A>G (p.Asn1293Asp)
c.2428A>G (p.Asn810Asp)
 ClinVar dbSNP
2g.165386824A>TCA349036324SCN2Ac.4630A>T (p.Asn1544Tyr)
c.*2949A>T (n.*2949A>T)
c.*2617A>T (n.*2617A>T)
c.*5153A>T (n.*5153A>T)
c.*2572A>T (n.*2572A>T)
c.4234A>T (p.Asn1412Tyr)
n.8061A>T
c.4600A>T (p.Asn1534Tyr)
c.3877A>T (p.Asn1293Tyr)
c.2428A>T (p.Asn810Tyr)
 COSMIC COSMIC
2g.165386825A>CCA349036325SCN2Ac.4631A>C (p.Asn1544Thr)
c.*2950A>C (n.*2950A>C)
c.*2618A>C (n.*2618A>C)
c.*5154A>C (n.*5154A>C)
c.*2573A>C (n.*2573A>C)
c.4235A>C (p.Asn1412Thr)
n.8062A>C
c.4601A>C (p.Asn1534Thr)
c.3878A>C (p.Asn1293Thr)
c.2429A>C (p.Asn810Thr)
2g.165386825A>GCA349036327SCN2Ac.4631A>G (p.Asn1544Ser)
c.*2950A>G (n.*2950A>G)
c.*2618A>G (n.*2618A>G)
c.*5154A>G (n.*5154A>G)
c.*2573A>G (n.*2573A>G)
c.4235A>G (p.Asn1412Ser)
n.8062A>G
c.4601A>G (p.Asn1534Ser)
c.3878A>G (p.Asn1293Ser)
c.2429A>G (p.Asn810Ser)
2g.165386825A>TCA349036326SCN2Ac.4631A>T (p.Asn1544Ile)
c.*2950A>T (n.*2950A>T)
c.*2618A>T (n.*2618A>T)
c.*5154A>T (n.*5154A>T)
c.*2573A>T (n.*2573A>T)
c.4235A>T (p.Asn1412Ile)
n.8062A>T
c.4601A>T (p.Asn1534Ile)
c.3878A>T (p.Asn1293Ile)
c.2429A>T (p.Asn810Ile)
2g.165386826C>ACA349036328SCN2Ac.4632C>A (p.Asn1544Lys)
c.*2951C>A (n.*2951C>A)
c.*2619C>A (n.*2619C>A)
c.*5155C>A (n.*5155C>A)
c.*2574C>A (n.*2574C>A)
c.4236C>A (p.Asn1412Lys)
n.8063C>A
c.4602C>A (p.Asn1534Lys)
c.3879C>A (p.Asn1293Lys)
c.2430C>A (p.Asn810Lys)
2g.165386826C>GCA349036329SCN2Ac.4632C>G (p.Asn1544Lys)
c.*2951C>G (n.*2951C>G)
c.*2619C>G (n.*2619C>G)
c.*5155C>G (n.*5155C>G)
c.*2574C>G (n.*2574C>G)
c.4236C>G (p.Asn1412Lys)
n.8063C>G
c.4602C>G (p.Asn1534Lys)
c.3879C>G (p.Asn1293Lys)
c.2430C>G (p.Asn810Lys)
2g.165386826C>TCA429972539SCN2Ac.4632C>T (p.Asn1544=)
c.*2951C>T (n.*2951C>T)
c.*2619C>T (n.*2619C>T)
c.*5155C>T (n.*5155C>T)
c.*2574C>T (n.*2574C>T)
c.4236C>T (p.Asn1412=)
n.8063C>T
c.4602C>T (p.Asn1534=)
c.3879C>T (p.Asn1293=)
c.2430C>T (p.Asn810=)
2g.165386827A=CA1304563766SCN2Ac.4633A= (p.Met1545=)
c.*2952A= (n.*2952A=)
c.*2620A= (n.*2620A=)
c.*5156A= (n.*5156A=)
c.*2575A= (n.*2575A=)
c.4237A= (p.Met1413=)
n.8064A=
c.4603A= (p.Met1535=)
c.3880A= (p.Met1294=)
c.2431A= (p.Met811=)
2g.165386827A>CCA349036330SCN2Ac.4633A>C (p.Met1545Leu)
c.*2952A>C (n.*2952A>C)
c.*2620A>C (n.*2620A>C)
c.*5156A>C (n.*5156A>C)
c.*2575A>C (n.*2575A>C)
c.4237A>C (p.Met1413Leu)
n.8064A>C
c.4603A>C (p.Met1535Leu)
c.3880A>C (p.Met1294Leu)
c.2431A>C (p.Met811Leu)
2g.165386827A>GCA317997SCN2Ac.4633A>G (p.Met1545Val)
c.*2952A>G (n.*2952A>G)
c.*2620A>G (n.*2620A>G)
c.*5156A>G (n.*5156A>G)
c.*2575A>G (n.*2575A>G)
c.4237A>G (p.Met1413Val)
n.8064A>G
c.4603A>G (p.Met1535Val)
c.3880A>G (p.Met1294Val)
c.2431A>G (p.Met811Val)
 ClinVar dbSNP
2g.165386827A>TCA349036331SCN2Ac.4633A>T (p.Met1545Leu)
c.*2952A>T (n.*2952A>T)
c.*2620A>T (n.*2620A>T)
c.*5156A>T (n.*5156A>T)
c.*2575A>T (n.*2575A>T)
c.4237A>T (p.Met1413Leu)
n.8064A>T
c.4603A>T (p.Met1535Leu)
c.3880A>T (p.Met1294Leu)
c.2431A>T (p.Met811Leu)
2g.165386828T>ACA349036332SCN2Ac.4634T>A (p.Met1545Lys)
c.*2953T>A (n.*2953T>A)
c.*2621T>A (n.*2621T>A)
c.*5157T>A (n.*5157T>A)
c.*2576T>A (n.*2576T>A)
c.4238T>A (p.Met1413Lys)
n.8065T>A
c.4604T>A (p.Met1535Lys)
c.3881T>A (p.Met1294Lys)
c.2432T>A (p.Met811Lys)
2g.165386828T>CCA349036333SCN2Ac.4634T>C (p.Met1545Thr)
c.*2953T>C (n.*2953T>C)
c.*2621T>C (n.*2621T>C)
c.*5157T>C (n.*5157T>C)
c.*2576T>C (n.*2576T>C)
c.4238T>C (p.Met1413Thr)
n.8065T>C
c.4604T>C (p.Met1535Thr)
c.3881T>C (p.Met1294Thr)
c.2432T>C (p.Met811Thr)
2g.165386828T>GCA349036334SCN2Ac.4634T>G (p.Met1545Arg)
c.*2953T>G (n.*2953T>G)
c.*2621T>G (n.*2621T>G)
c.*5157T>G (n.*5157T>G)
c.*2576T>G (n.*2576T>G)
c.4238T>G (p.Met1413Arg)
n.8065T>G
c.4604T>G (p.Met1535Arg)
c.3881T>G (p.Met1294Arg)
c.2432T>G (p.Met811Arg)
2g.165386829G>ACA349036335SCN2Ac.4635G>A (p.Met1545Ile)
c.*2954G>A (n.*2954G>A)
c.*2622G>A (n.*2622G>A)
c.*5158G>A (n.*5158G>A)
c.*2577G>A (n.*2577G>A)
c.4239G>A (p.Met1413Ile)
n.8066G>A
c.4605G>A (p.Met1535Ile)
c.3882G>A (p.Met1294Ile)
c.2433G>A (p.Met811Ile)
2g.165386829G>CCA349036336SCN2Ac.4635G>C (p.Met1545Ile)
c.*2954G>C (n.*2954G>C)
c.*2622G>C (n.*2622G>C)
c.*5158G>C (n.*5158G>C)
c.*2577G>C (n.*2577G>C)
c.4239G>C (p.Met1413Ile)
n.8066G>C
c.4605G>C (p.Met1535Ile)
c.3882G>C (p.Met1294Ile)
c.2433G>C (p.Met811Ile)
 ClinVar dbSNP
2g.165386829G=CA1304563767SCN2Ac.4635G= (p.Met1545=)
c.*2954G= (n.*2954G=)
c.*2622G= (n.*2622G=)
c.*5158G= (n.*5158G=)
c.*2577G= (n.*2577G=)
c.4239G= (p.Met1413=)
n.8066G=
c.4605G= (p.Met1535=)
c.3882G= (p.Met1294=)
c.2433G= (p.Met811=)
2g.165386829G>TCA349036337SCN2Ac.4635G>T (p.Met1545Ile)
c.*2954G>T (n.*2954G>T)
c.*2622G>T (n.*2622G>T)
c.*5158G>T (n.*5158G>T)
c.*2577G>T (n.*2577G>T)
c.4239G>T (p.Met1413Ile)
n.8066G>T
c.4605G>T (p.Met1535Ile)
c.3882G>T (p.Met1294Ile)
c.2433G>T (p.Met811Ile)
 ClinVar dbSNP COSMIC COSMIC
2g.165386830G>ACA349036339SCN2Ac.4636G>A (p.Val1546Ile)
c.*2955G>A (n.*2955G>A)
c.*2623G>A (n.*2623G>A)
c.*5159G>A (n.*5159G>A)
c.*2578G>A (n.*2578G>A)
c.4240G>A (p.Val1414Ile)
n.8067G>A
c.4606G>A (p.Val1536Ile)
c.3883G>A (p.Val1295Ile)
c.2434G>A (p.Val812Ile)
 gnomAD v4
2g.165386830G>CCA349036340SCN2Ac.4636G>C (p.Val1546Leu)
c.*2955G>C (n.*2955G>C)
c.*2623G>C (n.*2623G>C)
c.*5159G>C (n.*5159G>C)
c.*2578G>C (n.*2578G>C)
c.4240G>C (p.Val1414Leu)
n.8067G>C
c.4606G>C (p.Val1536Leu)
c.3883G>C (p.Val1295Leu)
c.2434G>C (p.Val812Leu)
2g.165386830G>TCA349036338SCN2Ac.4636G>T (p.Val1546Phe)
c.*2955G>T (n.*2955G>T)
c.*2623G>T (n.*2623G>T)
c.*5159G>T (n.*5159G>T)
c.*2578G>T (n.*2578G>T)
c.4240G>T (p.Val1414Phe)
n.8067G>T
c.4606G>T (p.Val1536Phe)
c.3883G>T (p.Val1295Phe)
c.2434G>T (p.Val812Phe)
 gnomAD v4
2g.165386831T>ACA349036343SCN2Ac.4637T>A (p.Val1546Asp)
c.*2956T>A (n.*2956T>A)
c.*2624T>A (n.*2624T>A)
c.*5160T>A (n.*5160T>A)
c.*2579T>A (n.*2579T>A)
c.4241T>A (p.Val1414Asp)
n.8068T>A
c.4607T>A (p.Val1536Asp)
c.3884T>A (p.Val1295Asp)
c.2435T>A (p.Val812Asp)
2g.165386831T>CCA349036341SCN2Ac.4637T>C (p.Val1546Ala)
c.*2956T>C (n.*2956T>C)
c.*2624T>C (n.*2624T>C)
c.*5160T>C (n.*5160T>C)
c.*2579T>C (n.*2579T>C)
c.4241T>C (p.Val1414Ala)
n.8068T>C
c.4607T>C (p.Val1536Ala)
c.3884T>C (p.Val1295Ala)
c.2435T>C (p.Val812Ala)
2g.165386831T>GCA349036342SCN2Ac.4637T>G (p.Val1546Gly)
c.*2956T>G (n.*2956T>G)
c.*2624T>G (n.*2624T>G)
c.*5160T>G (n.*5160T>G)
c.*2579T>G (n.*2579T>G)
c.4241T>G (p.Val1414Gly)
n.8068T>G
c.4607T>G (p.Val1536Gly)
c.3884T>G (p.Val1295Gly)
c.2435T>G (p.Val812Gly)
 gnomAD v4
2g.165386832C>ACA429972553SCN2Ac.4638C>A (p.Val1546=)
c.*2957C>A (n.*2957C>A)
c.*2625C>A (n.*2625C>A)
c.*5161C>A (n.*5161C>A)
c.*2580C>A (n.*2580C>A)
c.4242C>A (p.Val1414=)
n.8069C>A
c.4608C>A (p.Val1536=)
c.3885C>A (p.Val1295=)
c.2436C>A (p.Val812=)
2g.165386832C>GCA429972556SCN2Ac.4638C>G (p.Val1546=)
c.*2957C>G (n.*2957C>G)
c.*2625C>G (n.*2625C>G)
c.*5161C>G (n.*5161C>G)
c.*2580C>G (n.*2580C>G)
c.4242C>G (p.Val1414=)
n.8069C>G
c.4608C>G (p.Val1536=)
c.3885C>G (p.Val1295=)
c.2436C>G (p.Val812=)
2g.165386832C>TCA429972557SCN2Ac.4638C>T (p.Val1546=)
c.*2957C>T (n.*2957C>T)
c.*2625C>T (n.*2625C>T)
c.*5161C>T (n.*5161C>T)
c.*2580C>T (n.*2580C>T)
c.4242C>T (p.Val1414=)
n.8069C>T
c.4608C>T (p.Val1536=)
c.3885C>T (p.Val1295=)
c.2436C>T (p.Val812=)
 gnomAD v4
2g.165386833A>CCA349036344SCN2Ac.4639A>C (p.Thr1547Pro)
c.*2958A>C (n.*2958A>C)
c.*2626A>C (n.*2626A>C)
c.*5162A>C (n.*5162A>C)
c.*2581A>C (n.*2581A>C)
c.4243A>C (p.Thr1415Pro)
n.8070A>C
c.4609A>C (p.Thr1537Pro)
c.3886A>C (p.Thr1296Pro)
c.2437A>C (p.Thr813Pro)
2g.165386833A>GCA349036345SCN2Ac.4639A>G (p.Thr1547Ala)
c.*2958A>G (n.*2958A>G)
c.*2626A>G (n.*2626A>G)
c.*5162A>G (n.*5162A>G)
c.*2581A>G (n.*2581A>G)
c.4243A>G (p.Thr1415Ala)
n.8070A>G
c.4609A>G (p.Thr1537Ala)
c.3886A>G (p.Thr1296Ala)
c.2437A>G (p.Thr813Ala)
2g.165386833A>TCA349036346SCN2Ac.4639A>T (p.Thr1547Ser)
c.*2958A>T (n.*2958A>T)
c.*2626A>T (n.*2626A>T)
c.*5162A>T (n.*5162A>T)
c.*2581A>T (n.*2581A>T)
c.4243A>T (p.Thr1415Ser)
n.8070A>T
c.4609A>T (p.Thr1537Ser)
c.3886A>T (p.Thr1296Ser)
c.2437A>T (p.Thr813Ser)
2g.165386834C>ACA349036347SCN2Ac.4640C>A (p.Thr1547Asn)
c.*2959C>A (n.*2959C>A)
c.*2627C>A (n.*2627C>A)
c.*5163C>A (n.*5163C>A)
c.*2582C>A (n.*2582C>A)
c.4244C>A (p.Thr1415Asn)
n.8071C>A
c.4610C>A (p.Thr1537Asn)
c.3887C>A (p.Thr1296Asn)
c.2438C>A (p.Thr813Asn)
2g.165386834C>GCA349036348SCN2Ac.4640C>G (p.Thr1547Ser)
c.*2959C>G (n.*2959C>G)
c.*2627C>G (n.*2627C>G)
c.*5163C>G (n.*5163C>G)
c.*2582C>G (n.*2582C>G)
c.4244C>G (p.Thr1415Ser)
n.8071C>G
c.4610C>G (p.Thr1537Ser)
c.3887C>G (p.Thr1296Ser)
c.2438C>G (p.Thr813Ser)
 ClinVar dbSNP
2g.165386834C>TCA349036349SCN2Ac.4640C>T (p.Thr1547Ile)
c.*2959C>T (n.*2959C>T)
c.*2627C>T (n.*2627C>T)
c.*5163C>T (n.*5163C>T)
c.*2582C>T (n.*2582C>T)
c.4244C>T (p.Thr1415Ile)
n.8071C>T
c.4610C>T (p.Thr1537Ile)
c.3887C>T (p.Thr1296Ile)
c.2438C>T (p.Thr813Ile)
2g.165386835C>ACA1940311SCN2Ac.4641C>A (p.Thr1547=)
c.*2960C>A (n.*2960C>A)
c.*2628C>A (n.*2628C>A)
c.*5164C>A (n.*5164C>A)
c.*2583C>A (n.*2583C>A)
c.4245C>A (p.Thr1415=)
n.8072C>A
c.4611C>A (p.Thr1537=)
c.3888C>A (p.Thr1296=)
c.2439C>A (p.Thr813=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386835C=CA1304563768SCN2Ac.4641C= (p.Thr1547=)
c.*2960C= (n.*2960C=)
c.*2628C= (n.*2628C=)
c.*5164C= (n.*5164C=)
c.*2583C= (n.*2583C=)
c.4245C= (p.Thr1415=)
n.8072C=
c.4611C= (p.Thr1537=)
c.3888C= (p.Thr1296=)
c.2439C= (p.Thr813=)
2g.165386835C>GCA429972562SCN2Ac.4641C>G (p.Thr1547=)
c.*2960C>G (n.*2960C>G)
c.*2628C>G (n.*2628C>G)
c.*5164C>G (n.*5164C>G)
c.*2583C>G (n.*2583C>G)
c.4245C>G (p.Thr1415=)
n.8072C>G
c.4611C>G (p.Thr1537=)
c.3888C>G (p.Thr1296=)
c.2439C>G (p.Thr813=)
2g.165386835C>TCA429972563SCN2Ac.4641C>T (p.Thr1547=)
c.*2960C>T (n.*2960C>T)
c.*2628C>T (n.*2628C>T)
c.*5164C>T (n.*5164C>T)
c.*2583C>T (n.*2583C>T)
c.4245C>T (p.Thr1415=)
n.8072C>T
c.4611C>T (p.Thr1537=)
c.3888C>T (p.Thr1296=)
c.2439C>T (p.Thr813=)
2g.165386836A>CCA349036350SCN2Ac.4642A>C (p.Met1548Leu)
c.*2961A>C (n.*2961A>C)
c.*2629A>C (n.*2629A>C)
c.*5165A>C (n.*5165A>C)
c.*2584A>C (n.*2584A>C)
c.4246A>C (p.Met1416Leu)
n.8073A>C
c.4612A>C (p.Met1538Leu)
c.3889A>C (p.Met1297Leu)
c.2440A>C (p.Met814Leu)
2g.165386836A>GCA349036351SCN2Ac.4642A>G (p.Met1548Val)
c.*2961A>G (n.*2961A>G)
c.*2629A>G (n.*2629A>G)
c.*5165A>G (n.*5165A>G)
c.*2584A>G (n.*2584A>G)
c.4246A>G (p.Met1416Val)
n.8073A>G
c.4612A>G (p.Met1538Val)
c.3889A>G (p.Met1297Val)
c.2440A>G (p.Met814Val)
 ClinVar
2g.165386836A>TCA349036352SCN2Ac.4642A>T (p.Met1548Leu)
c.*2961A>T (n.*2961A>T)
c.*2629A>T (n.*2629A>T)
c.*5165A>T (n.*5165A>T)
c.*2584A>T (n.*2584A>T)
c.4246A>T (p.Met1416Leu)
n.8073A>T
c.4612A>T (p.Met1538Leu)
c.3889A>T (p.Met1297Leu)
c.2440A>T (p.Met814Leu)
2g.165386837T>ACA349036354SCN2Ac.4643T>A (p.Met1548Lys)
c.*2962T>A (n.*2962T>A)
c.*2630T>A (n.*2630T>A)
c.*5166T>A (n.*5166T>A)
c.*2585T>A (n.*2585T>A)
c.4247T>A (p.Met1416Lys)
n.8074T>A
c.4613T>A (p.Met1538Lys)
c.3890T>A (p.Met1297Lys)
c.2441T>A (p.Met814Lys)
2g.165386837T>CCA16044310SCN2Ac.4643T>C (p.Met1548Thr)
c.*2962T>C (n.*2962T>C)
c.*2630T>C (n.*2630T>C)
c.*5166T>C (n.*5166T>C)
c.*2585T>C (n.*2585T>C)
c.4247T>C (p.Met1416Thr)
n.8074T>C
c.4613T>C (p.Met1538Thr)
c.3890T>C (p.Met1297Thr)
c.2441T>C (p.Met814Thr)
 ClinVar dbSNP
2g.165386837T>GCA349036353SCN2Ac.4643T>G (p.Met1548Arg)
c.*2962T>G (n.*2962T>G)
c.*2630T>G (n.*2630T>G)
c.*5166T>G (n.*5166T>G)
c.*2585T>G (n.*2585T>G)
c.4247T>G (p.Met1416Arg)
n.8074T>G
c.4613T>G (p.Met1538Arg)
c.3890T>G (p.Met1297Arg)
c.2441T>G (p.Met814Arg)
2g.165386837T=CA1304563769SCN2Ac.4643T= (p.Met1548=)
c.*2962T= (n.*2962T=)
c.*2630T= (n.*2630T=)
c.*5166T= (n.*5166T=)
c.*2585T= (n.*2585T=)
c.4247T= (p.Met1416=)
n.8074T=
c.4613T= (p.Met1538=)
c.3890T= (p.Met1297=)
c.2441T= (p.Met814=)
2g.165386838G>ACA349036355SCN2Ac.4644G>A (p.Met1548Ile)
c.*2963G>A (n.*2963G>A)
c.*2631G>A (n.*2631G>A)
c.*5167G>A (n.*5167G>A)
c.*2586G>A (n.*2586G>A)
c.4248G>A (p.Met1416Ile)
n.8075G>A
c.4614G>A (p.Met1538Ile)
c.3891G>A (p.Met1297Ile)
c.2442G>A (p.Met814Ile)
2g.165386838G>CCA349036356SCN2Ac.4644G>C (p.Met1548Ile)
c.*2963G>C (n.*2963G>C)
c.*2631G>C (n.*2631G>C)
c.*5167G>C (n.*5167G>C)
c.*2586G>C (n.*2586G>C)
c.4248G>C (p.Met1416Ile)
n.8075G>C
c.4614G>C (p.Met1538Ile)
c.3891G>C (p.Met1297Ile)
c.2442G>C (p.Met814Ile)
 ClinVar dbSNP
2g.165386838G=CA1304563770SCN2Ac.4644G= (p.Met1548=)
c.*2963G= (n.*2963G=)
c.*2631G= (n.*2631G=)
c.*5167G= (n.*5167G=)
c.*2586G= (n.*2586G=)
c.4248G= (p.Met1416=)
n.8075G=
c.4614G= (p.Met1538=)
c.3891G= (p.Met1297=)
c.2442G= (p.Met814=)
2g.165386838G>TCA349036357SCN2Ac.4644G>T (p.Met1548Ile)
c.*2963G>T (n.*2963G>T)
c.*2631G>T (n.*2631G>T)
c.*5167G>T (n.*5167G>T)
c.*2586G>T (n.*2586G>T)
c.4248G>T (p.Met1416Ile)
n.8075G>T
c.4614G>T (p.Met1538Ile)
c.3891G>T (p.Met1297Ile)
c.2442G>T (p.Met814Ile)
2g.165386839A>CCA349036358SCN2Ac.4645A>C (p.Met1549Leu)
c.*2964A>C (n.*2964A>C)
c.*2632A>C (n.*2632A>C)
c.*5168A>C (n.*5168A>C)
c.*2587A>C (n.*2587A>C)
c.4249A>C (p.Met1417Leu)
n.8076A>C
c.4615A>C (p.Met1539Leu)
c.3892A>C (p.Met1298Leu)
c.2443A>C (p.Met815Leu)
2g.165386839A>GCA349036359SCN2Ac.4645A>G (p.Met1549Val)
c.*2964A>G (n.*2964A>G)
c.*2632A>G (n.*2632A>G)
c.*5168A>G (n.*5168A>G)
c.*2587A>G (n.*2587A>G)
c.4249A>G (p.Met1417Val)
n.8076A>G
c.4615A>G (p.Met1539Val)
c.3892A>G (p.Met1298Val)
c.2443A>G (p.Met815Val)
2g.165386839A>TCA349036360SCN2Ac.4645A>T (p.Met1549Leu)
c.*2964A>T (n.*2964A>T)
c.*2632A>T (n.*2632A>T)
c.*5168A>T (n.*5168A>T)
c.*2587A>T (n.*2587A>T)
c.4249A>T (p.Met1417Leu)
n.8076A>T
c.4615A>T (p.Met1539Leu)
c.3892A>T (p.Met1298Leu)
c.2443A>T (p.Met815Leu)
2g.165386840T>ACA349036361SCN2Ac.4646T>A (p.Met1549Lys)
c.*2965T>A (n.*2965T>A)
c.*2633T>A (n.*2633T>A)
c.*5169T>A (n.*5169T>A)
c.*2588T>A (n.*2588T>A)
c.4250T>A (p.Met1417Lys)
n.8077T>A
c.4616T>A (p.Met1539Lys)
c.3893T>A (p.Met1298Lys)
c.2444T>A (p.Met815Lys)
2g.165386840T>CCA349036362SCN2Ac.4646T>C (p.Met1549Thr)
c.*2965T>C (n.*2965T>C)
c.*2633T>C (n.*2633T>C)
c.*5169T>C (n.*5169T>C)
c.*2588T>C (n.*2588T>C)
c.4250T>C (p.Met1417Thr)
n.8077T>C
c.4616T>C (p.Met1539Thr)
c.3893T>C (p.Met1298Thr)
c.2444T>C (p.Met815Thr)
2g.165386840T>GCA349036363SCN2Ac.4646T>G (p.Met1549Arg)
c.*2965T>G (n.*2965T>G)
c.*2633T>G (n.*2633T>G)
c.*5169T>G (n.*5169T>G)
c.*2588T>G (n.*2588T>G)
c.4250T>G (p.Met1417Arg)
n.8077T>G
c.4616T>G (p.Met1539Arg)
c.3893T>G (p.Met1298Arg)
c.2444T>G (p.Met815Arg)
2g.165386841G>ACA349036364SCN2Ac.4647G>A (p.Met1549Ile)
c.*2966G>A (n.*2966G>A)
c.*2634G>A (n.*2634G>A)
c.*5170G>A (n.*5170G>A)
c.*2589G>A (n.*2589G>A)
c.4251G>A (p.Met1417Ile)
n.8078G>A
c.4617G>A (p.Met1539Ile)
c.3894G>A (p.Met1298Ile)
c.2445G>A (p.Met815Ile)
2g.165386841G>CCA349036365SCN2Ac.4647G>C (p.Met1549Ile)
c.*2966G>C (n.*2966G>C)
c.*2634G>C (n.*2634G>C)
c.*5170G>C (n.*5170G>C)
c.*2589G>C (n.*2589G>C)
c.4251G>C (p.Met1417Ile)
n.8078G>C
c.4617G>C (p.Met1539Ile)
c.3894G>C (p.Met1298Ile)
c.2445G>C (p.Met815Ile)
2g.165386841G=CA1304563771SCN2Ac.4647G= (p.Met1549=)
c.*2966G= (n.*2966G=)
c.*2634G= (n.*2634G=)
c.*5170G= (n.*5170G=)
c.*2589G= (n.*2589G=)
c.4251G= (p.Met1417=)
n.8078G=
c.4617G= (p.Met1539=)
c.3894G= (p.Met1298=)
c.2445G= (p.Met815=)
2g.165386841G>TCA59750954SCN2Ac.4647G>T (p.Met1549Ile)
c.*2966G>T (n.*2966G>T)
c.*2634G>T (n.*2634G>T)
c.*5170G>T (n.*5170G>T)
c.*2589G>T (n.*2589G>T)
c.4251G>T (p.Met1417Ile)
n.8078G>T
c.4617G>T (p.Met1539Ile)
c.3894G>T (p.Met1298Ile)
c.2445G>T (p.Met815Ile)
 dbSNP
2g.165386842delCA2580064470SCN2Ac.4648del (p.Val1550TrpfsTer10)
c.*2967del (n.*2967del)
c.*2635del (n.*2635del)
c.*5171del (n.*5171del)
c.*2590del (n.*2590del)
c.4252del (p.Val1418TrpfsTer10)
n.8079del
c.4618del (p.Val1540TrpfsTer10)
c.3895del (p.Val1299TrpfsTer10)
c.2446del (p.Val816TrpfsTer10)
 ClinVar
2g.165386842G>ACA349036367SCN2Ac.4648G>A (p.Val1550Met)
c.*2967G>A (n.*2967G>A)
c.*2635G>A (n.*2635G>A)
c.*5171G>A (n.*5171G>A)
c.*2590G>A (n.*2590G>A)
c.4252G>A (p.Val1418Met)
n.8079G>A
c.4618G>A (p.Val1540Met)
c.3895G>A (p.Val1299Met)
c.2446G>A (p.Val816Met)
2g.165386842G>CCA349036368SCN2Ac.4648G>C (p.Val1550Leu)
c.*2967G>C (n.*2967G>C)
c.*2635G>C (n.*2635G>C)
c.*5171G>C (n.*5171G>C)
c.*2590G>C (n.*2590G>C)
c.4252G>C (p.Val1418Leu)
n.8079G>C
c.4618G>C (p.Val1540Leu)
c.3895G>C (p.Val1299Leu)
c.2446G>C (p.Val816Leu)
2g.165386842G>TCA349036366SCN2Ac.4648G>T (p.Val1550Leu)
c.*2967G>T (n.*2967G>T)
c.*2635G>T (n.*2635G>T)
c.*5171G>T (n.*5171G>T)
c.*2590G>T (n.*2590G>T)
c.4252G>T (p.Val1418Leu)
n.8079G>T
c.4618G>T (p.Val1540Leu)
c.3895G>T (p.Val1299Leu)
c.2446G>T (p.Val816Leu)
2g.165386843T>ACA349036369SCN2Ac.4649T>A (p.Val1550Glu)
c.*2968T>A (n.*2968T>A)
c.*2636T>A (n.*2636T>A)
c.*5172T>A (n.*5172T>A)
c.*2591T>A (n.*2591T>A)
c.4253T>A (p.Val1418Glu)
n.8080T>A
c.4619T>A (p.Val1540Glu)
c.3896T>A (p.Val1299Glu)
c.2447T>A (p.Val816Glu)
2g.165386843T>CCA349036370SCN2Ac.4649T>C (p.Val1550Ala)
c.*2968T>C (n.*2968T>C)
c.*2636T>C (n.*2636T>C)
c.*5172T>C (n.*5172T>C)
c.*2591T>C (n.*2591T>C)
c.4253T>C (p.Val1418Ala)
n.8080T>C
c.4619T>C (p.Val1540Ala)
c.3896T>C (p.Val1299Ala)
c.2447T>C (p.Val816Ala)
2g.165386843T>GCA349036371SCN2Ac.4649T>G (p.Val1550Gly)
c.*2968T>G (n.*2968T>G)
c.*2636T>G (n.*2636T>G)
c.*5172T>G (n.*5172T>G)
c.*2591T>G (n.*2591T>G)
c.4253T>G (p.Val1418Gly)
n.8080T>G
c.4619T>G (p.Val1540Gly)
c.3896T>G (p.Val1299Gly)
c.2447T>G (p.Val816Gly)
2g.165386844G>ACA429972583SCN2Ac.4650G>A (p.Val1550=)
c.*2969G>A (n.*2969G>A)
c.*2637G>A (n.*2637G>A)
c.*5173G>A (n.*5173G>A)
c.*2592G>A (n.*2592G>A)
c.4254G>A (p.Val1418=)
n.8081G>A
c.4620G>A (p.Val1540=)
c.3897G>A (p.Val1299=)
c.2448G>A (p.Val816=)
 gnomAD v4
2g.165386844G>CCA429972586SCN2Ac.4650G>C (p.Val1550=)
c.*2969G>C (n.*2969G>C)
c.*2637G>C (n.*2637G>C)
c.*5173G>C (n.*5173G>C)
c.*2592G>C (n.*2592G>C)
c.4254G>C (p.Val1418=)
n.8081G>C
c.4620G>C (p.Val1540=)
c.3897G>C (p.Val1299=)
c.2448G>C (p.Val816=)
2g.165386844G>TCA429972588SCN2Ac.4650G>T (p.Val1550=)
c.*2969G>T (n.*2969G>T)
c.*2637G>T (n.*2637G>T)
c.*5173G>T (n.*5173G>T)
c.*2592G>T (n.*2592G>T)
c.4254G>T (p.Val1418=)
n.8081G>T
c.4620G>T (p.Val1540=)
c.3897G>T (p.Val1299=)
c.2448G>T (p.Val816=)
2g.165386845G>ACA349036372SCN2Ac.4651G>A (p.Glu1551Lys)
c.*2970G>A (n.*2970G>A)
c.*2638G>A (n.*2638G>A)
c.*5174G>A (n.*5174G>A)
c.*2593G>A (n.*2593G>A)
c.4255G>A (p.Glu1419Lys)
n.8082G>A
c.4621G>A (p.Glu1541Lys)
c.3898G>A (p.Glu1300Lys)
c.2449G>A (p.Glu817Lys)
2g.165386845G>CCA349036373SCN2Ac.4651G>C (p.Glu1551Gln)
c.*2970G>C (n.*2970G>C)
c.*2638G>C (n.*2638G>C)
c.*5174G>C (n.*5174G>C)
c.*2593G>C (n.*2593G>C)
c.4255G>C (p.Glu1419Gln)
n.8082G>C
c.4621G>C (p.Glu1541Gln)
c.3898G>C (p.Glu1300Gln)
c.2449G>C (p.Glu817Gln)
2g.165386845G=CA1304563772SCN2Ac.4651G= (p.Glu1551=)
c.*2970G= (n.*2970G=)
c.*2638G= (n.*2638G=)
c.*5174G= (n.*5174G=)
c.*2593G= (n.*2593G=)
c.4255G= (p.Glu1419=)
n.8082G=
c.4621G= (p.Glu1541=)
c.3898G= (p.Glu1300=)
c.2449G= (p.Glu817=)
2g.165386845G>TCA349036374SCN2Ac.4651G>T (p.Glu1551Ter)
c.*2970G>T (n.*2970G>T)
c.*2638G>T (n.*2638G>T)
c.*5174G>T (n.*5174G>T)
c.*2593G>T (n.*2593G>T)
c.4255G>T (p.Glu1419Ter)
n.8082G>T
c.4621G>T (p.Glu1541Ter)
c.3898G>T (p.Glu1300Ter)
c.2449G>T (p.Glu817Ter)
 dbSNP
2g.165386846A>CCA349036375SCN2Ac.4652A>C (p.Glu1551Ala)
c.*2971A>C (n.*2971A>C)
c.*2639A>C (n.*2639A>C)
c.*5175A>C (n.*5175A>C)
c.*2594A>C (n.*2594A>C)
c.4256A>C (p.Glu1419Ala)
n.8083A>C
c.4622A>C (p.Glu1541Ala)
c.3899A>C (p.Glu1300Ala)
c.2450A>C (p.Glu817Ala)
 ClinVar
2g.165386846A>GCA349036376SCN2Ac.4652A>G (p.Glu1551Gly)
c.*2971A>G (n.*2971A>G)
c.*2639A>G (n.*2639A>G)
c.*5175A>G (n.*5175A>G)
c.*2594A>G (n.*2594A>G)
c.4256A>G (p.Glu1419Gly)
n.8083A>G
c.4622A>G (p.Glu1541Gly)
c.3899A>G (p.Glu1300Gly)
c.2450A>G (p.Glu817Gly)
2g.165386846A>TCA349036377SCN2Ac.4652A>T (p.Glu1551Val)
c.*2971A>T (n.*2971A>T)
c.*2639A>T (n.*2639A>T)
c.*5175A>T (n.*5175A>T)
c.*2594A>T (n.*2594A>T)
c.4256A>T (p.Glu1419Val)
n.8083A>T
c.4622A>T (p.Glu1541Val)
c.3899A>T (p.Glu1300Val)
c.2450A>T (p.Glu817Val)
2g.165386847A>CCA349036378SCN2Ac.4653A>C (p.Glu1551Asp)
c.*2972A>C (n.*2972A>C)
c.*2640A>C (n.*2640A>C)
c.*5176A>C (n.*5176A>C)
c.*2595A>C (n.*2595A>C)
c.4257A>C (p.Glu1419Asp)
n.8084A>C
c.4623A>C (p.Glu1541Asp)
c.3900A>C (p.Glu1300Asp)
c.2451A>C (p.Glu817Asp)
2g.165386847A>GCA429972594SCN2Ac.4653A>G (p.Glu1551=)
c.*2972A>G (n.*2972A>G)
c.*2640A>G (n.*2640A>G)
c.*5176A>G (n.*5176A>G)
c.*2595A>G (n.*2595A>G)
c.4257A>G (p.Glu1419=)
n.8084A>G
c.4623A>G (p.Glu1541=)
c.3900A>G (p.Glu1300=)
c.2451A>G (p.Glu817=)
2g.165386847A>TCA349036379SCN2Ac.4653A>T (p.Glu1551Asp)
c.*2972A>T (n.*2972A>T)
c.*2640A>T (n.*2640A>T)
c.*5176A>T (n.*5176A>T)
c.*2595A>T (n.*2595A>T)
c.4257A>T (p.Glu1419Asp)
n.8084A>T
c.4623A>T (p.Glu1541Asp)
c.3900A>T (p.Glu1300Asp)
c.2451A>T (p.Glu817Asp)
2g.165386848A>CCA349036380SCN2Ac.4654A>C (p.Thr1552Pro)
c.*2973A>C (n.*2973A>C)
c.*2641A>C (n.*2641A>C)
c.*5177A>C (n.*5177A>C)
c.*2596A>C (n.*2596A>C)
c.4258A>C (p.Thr1420Pro)
n.8085A>C
c.4624A>C (p.Thr1542Pro)
c.3901A>C (p.Thr1301Pro)
c.2452A>C (p.Thr818Pro)
2g.165386848A>GCA349036382SCN2Ac.4654A>G (p.Thr1552Ala)
c.*2973A>G (n.*2973A>G)
c.*2641A>G (n.*2641A>G)
c.*5177A>G (n.*5177A>G)
c.*2596A>G (n.*2596A>G)
c.4258A>G (p.Thr1420Ala)
n.8085A>G
c.4624A>G (p.Thr1542Ala)
c.3901A>G (p.Thr1301Ala)
c.2452A>G (p.Thr818Ala)
 ClinVar
2g.165386848A>TCA349036383SCN2Ac.4654A>T (p.Thr1552Ser)
c.*2973A>T (n.*2973A>T)
c.*2641A>T (n.*2641A>T)
c.*5177A>T (n.*5177A>T)
c.*2596A>T (n.*2596A>T)
c.4258A>T (p.Thr1420Ser)
n.8085A>T
c.4624A>T (p.Thr1542Ser)
c.3901A>T (p.Thr1301Ser)
c.2452A>T (p.Thr818Ser)
2g.165386849C>ACA349036388SCN2Ac.4655C>A (p.Thr1552Asn)
c.*2974C>A (n.*2974C>A)
c.*2642C>A (n.*2642C>A)
c.*5178C>A (n.*5178C>A)
c.*2597C>A (n.*2597C>A)
c.4259C>A (p.Thr1420Asn)
n.8086C>A
c.4625C>A (p.Thr1542Asn)
c.3902C>A (p.Thr1301Asn)
c.2453C>A (p.Thr818Asn)
2g.165386849C>GCA349036386SCN2Ac.4655C>G (p.Thr1552Ser)
c.*2974C>G (n.*2974C>G)
c.*2642C>G (n.*2642C>G)
c.*5178C>G (n.*5178C>G)
c.*2597C>G (n.*2597C>G)
c.4259C>G (p.Thr1420Ser)
n.8086C>G
c.4625C>G (p.Thr1542Ser)
c.3902C>G (p.Thr1301Ser)
c.2453C>G (p.Thr818Ser)
2g.165386849C>TCA349036385SCN2Ac.4655C>T (p.Thr1552Ile)
c.*2974C>T (n.*2974C>T)
c.*2642C>T (n.*2642C>T)
c.*5178C>T (n.*5178C>T)
c.*2597C>T (n.*2597C>T)
c.4259C>T (p.Thr1420Ile)
n.8086C>T
c.4625C>T (p.Thr1542Ile)
c.3902C>T (p.Thr1301Ile)
c.2453C>T (p.Thr818Ile)
 ClinVar
2g.165386850C>ACA429972599SCN2Ac.4656C>A (p.Thr1552=)
c.*2975C>A (n.*2975C>A)
c.*2643C>A (n.*2643C>A)
c.*5179C>A (n.*5179C>A)
c.*2598C>A (n.*2598C>A)
c.4260C>A (p.Thr1420=)
n.8087C>A
c.4626C>A (p.Thr1542=)
c.3903C>A (p.Thr1301=)
c.2454C>A (p.Thr818=)
 gnomAD v4 COSMIC COSMIC
2g.165386850C=CA1304563773SCN2Ac.4656C= (p.Thr1552=)
c.*2975C= (n.*2975C=)
c.*2643C= (n.*2643C=)
c.*5179C= (n.*5179C=)
c.*2598C= (n.*2598C=)
c.4260C= (p.Thr1420=)
n.8087C=
c.4626C= (p.Thr1542=)
c.3903C= (p.Thr1301=)
c.2454C= (p.Thr818=)
2g.165386850C>GCA1940312SCN2Ac.4656C>G (p.Thr1552=)
c.*2975C>G (n.*2975C>G)
c.*2643C>G (n.*2643C>G)
c.*5179C>G (n.*5179C>G)
c.*2598C>G (n.*2598C>G)
c.4260C>G (p.Thr1420=)
n.8087C>G
c.4626C>G (p.Thr1542=)
c.3903C>G (p.Thr1301=)
c.2454C>G (p.Thr818=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386850C>TCA1940313SCN2Ac.4656C>T (p.Thr1552=)
c.*2975C>T (n.*2975C>T)
c.*2643C>T (n.*2643C>T)
c.*5179C>T (n.*5179C>T)
c.*2598C>T (n.*2598C>T)
c.4260C>T (p.Thr1420=)
n.8087C>T
c.4626C>T (p.Thr1542=)
c.3903C>T (p.Thr1301=)
c.2454C>T (p.Thr818=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165386851G>ACA59750986SCN2Ac.4657G>A (p.Asp1553Asn)
c.*2976G>A (n.*2976G>A)
c.*2644G>A (n.*2644G>A)
c.*5180G>A (n.*5180G>A)
c.*2599G>A (n.*2599G>A)
c.4261G>A (p.Asp1421Asn)
n.8088G>A
c.4627G>A (p.Asp1543Asn)
c.3904G>A (p.Asp1302Asn)
c.2455G>A (p.Asp819Asn)
 ClinVar dbSNP gnomAD v4
2g.165386851G>CCA349036391SCN2Ac.4657G>C (p.Asp1553His)
c.*2976G>C (n.*2976G>C)
c.*2644G>C (n.*2644G>C)
c.*5180G>C (n.*5180G>C)
c.*2599G>C (n.*2599G>C)
c.4261G>C (p.Asp1421His)
n.8088G>C
c.4627G>C (p.Asp1543His)
c.3904G>C (p.Asp1302His)
c.2455G>C (p.Asp819His)
2g.165386851G=CA1304563774SCN2Ac.4657G= (p.Asp1553=)
c.*2976G= (n.*2976G=)
c.*2644G= (n.*2644G=)
c.*5180G= (n.*5180G=)
c.*2599G= (n.*2599G=)
c.4261G= (p.Asp1421=)
n.8088G=
c.4627G= (p.Asp1543=)
c.3904G= (p.Asp1302=)
c.2455G= (p.Asp819=)
2g.165386851G>TCA349036392SCN2Ac.4657G>T (p.Asp1553Tyr)
c.*2976G>T (n.*2976G>T)
c.*2644G>T (n.*2644G>T)
c.*5180G>T (n.*5180G>T)
c.*2599G>T (n.*2599G>T)
c.4261G>T (p.Asp1421Tyr)
n.8088G>T
c.4627G>T (p.Asp1543Tyr)
c.3904G>T (p.Asp1302Tyr)
c.2455G>T (p.Asp819Tyr)
2g.165386852A>CCA349036394SCN2Ac.4658A>C (p.Asp1553Ala)
c.*2977A>C (n.*2977A>C)
c.*2645A>C (n.*2645A>C)
c.*5181A>C (n.*5181A>C)
c.*2600A>C (n.*2600A>C)
c.4262A>C (p.Asp1421Ala)
n.8089A>C
c.4628A>C (p.Asp1543Ala)
c.3905A>C (p.Asp1302Ala)
c.2456A>C (p.Asp819Ala)
2g.165386852A>GCA349036395SCN2Ac.4658A>G (p.Asp1553Gly)
c.*2977A>G (n.*2977A>G)
c.*2645A>G (n.*2645A>G)
c.*5181A>G (n.*5181A>G)
c.*2600A>G (n.*2600A>G)
c.4262A>G (p.Asp1421Gly)
n.8089A>G
c.4628A>G (p.Asp1543Gly)
c.3905A>G (p.Asp1302Gly)
c.2456A>G (p.Asp819Gly)
2g.165386852A>TCA349036396SCN2Ac.4658A>T (p.Asp1553Val)
c.*2977A>T (n.*2977A>T)
c.*2645A>T (n.*2645A>T)
c.*5181A>T (n.*5181A>T)
c.*2600A>T (n.*2600A>T)
c.4262A>T (p.Asp1421Val)
n.8089A>T
c.4628A>T (p.Asp1543Val)
c.3905A>T (p.Asp1302Val)
c.2456A>T (p.Asp819Val)
2g.165386853T>ACA349036398SCN2Ac.4659T>A (p.Asp1553Glu)
c.*2978T>A (n.*2978T>A)
c.*2646T>A (n.*2646T>A)
c.*5182T>A (n.*5182T>A)
c.*2601T>A (n.*2601T>A)
c.4263T>A (p.Asp1421Glu)
n.8090T>A
c.4629T>A (p.Asp1543Glu)
c.3906T>A (p.Asp1302Glu)
c.2457T>A (p.Asp819Glu)
 gnomAD v4
2g.165386853T>CCA429972606SCN2Ac.4659T>C (p.Asp1553=)
c.*2978T>C (n.*2978T>C)
c.*2646T>C (n.*2646T>C)
c.*5182T>C (n.*5182T>C)
c.*2601T>C (n.*2601T>C)
c.4263T>C (p.Asp1421=)
n.8090T>C
c.4629T>C (p.Asp1543=)
c.3906T>C (p.Asp1302=)
c.2457T>C (p.Asp819=)
 ClinVar gnomAD v4
2g.165386853T>GCA349036400SCN2Ac.4659T>G (p.Asp1553Glu)
c.*2978T>G (n.*2978T>G)
c.*2646T>G (n.*2646T>G)
c.*5182T>G (n.*5182T>G)
c.*2601T>G (n.*2601T>G)
c.4263T>G (p.Asp1421Glu)
n.8090T>G
c.4629T>G (p.Asp1543Glu)
c.3906T>G (p.Asp1302Glu)
c.2457T>G (p.Asp819Glu)
2g.165386854G>ACA349036402SCN2Ac.4660G>A (p.Asp1554Asn)
c.*2979G>A (n.*2979G>A)
c.*2647G>A (n.*2647G>A)
c.*5183G>A (n.*5183G>A)
c.*2602G>A (n.*2602G>A)
c.4264G>A (p.Asp1422Asn)
n.8091G>A
c.4630G>A (p.Asp1544Asn)
c.3907G>A (p.Asp1303Asn)
c.2458G>A (p.Asp820Asn)
2g.165386854G>CCA349036403SCN2Ac.4660G>C (p.Asp1554His)
c.*2979G>C (n.*2979G>C)
c.*2647G>C (n.*2647G>C)
c.*5183G>C (n.*5183G>C)
c.*2602G>C (n.*2602G>C)
c.4264G>C (p.Asp1422His)
n.8091G>C
c.4630G>C (p.Asp1544His)
c.3907G>C (p.Asp1303His)
c.2458G>C (p.Asp820His)
2g.165386854G>TCA349036405SCN2Ac.4660G>T (p.Asp1554Tyr)
c.*2979G>T (n.*2979G>T)
c.*2647G>T (n.*2647G>T)
c.*5183G>T (n.*5183G>T)
c.*2602G>T (n.*2602G>T)
c.4264G>T (p.Asp1422Tyr)
n.8091G>T
c.4630G>T (p.Asp1544Tyr)
c.3907G>T (p.Asp1303Tyr)
c.2458G>T (p.Asp820Tyr)
 ClinVar
2g.165386855A=CA1304563775SCN2Ac.4661A= (p.Asp1554=)
c.*2980A= (n.*2980A=)
c.*2648A= (n.*2648A=)
c.*5184A= (n.*5184A=)
c.*2603A= (n.*2603A=)
c.4265A= (p.Asp1422=)
n.8092A=
c.4631A= (p.Asp1544=)
c.3908A= (p.Asp1303=)
c.2459A= (p.Asp820=)
2g.165386855A>CCA349036406SCN2Ac.4661A>C (p.Asp1554Ala)
c.*2980A>C (n.*2980A>C)
c.*2648A>C (n.*2648A>C)
c.*5184A>C (n.*5184A>C)
c.*2603A>C (n.*2603A>C)
c.4265A>C (p.Asp1422Ala)
n.8092A>C
c.4631A>C (p.Asp1544Ala)
c.3908A>C (p.Asp1303Ala)
c.2459A>C (p.Asp820Ala)
2g.165386855A>GCA318196SCN2Ac.4661A>G (p.Asp1554Gly)
c.*2980A>G (n.*2980A>G)
c.*2648A>G (n.*2648A>G)
c.*5184A>G (n.*5184A>G)
c.*2603A>G (n.*2603A>G)
c.4265A>G (p.Asp1422Gly)
n.8092A>G
c.4631A>G (p.Asp1544Gly)
c.3908A>G (p.Asp1303Gly)
c.2459A>G (p.Asp820Gly)
 ClinVar dbSNP gnomAD v4
2g.165386855A>TCA349036407SCN2Ac.4661A>T (p.Asp1554Val)
c.*2980A>T (n.*2980A>T)
c.*2648A>T (n.*2648A>T)
c.*5184A>T (n.*5184A>T)
c.*2603A>T (n.*2603A>T)
c.4265A>T (p.Asp1422Val)
n.8092A>T
c.4631A>T (p.Asp1544Val)
c.3908A>T (p.Asp1303Val)
c.2459A>T (p.Asp820Val)
2g.165386856C>ACA349036409SCN2Ac.4662C>A (p.Asp1554Glu)
c.*2981C>A (n.*2981C>A)
c.*2649C>A (n.*2649C>A)
c.*5185C>A (n.*5185C>A)
c.*2604C>A (n.*2604C>A)
c.4266C>A (p.Asp1422Glu)
n.8093C>A
c.4632C>A (p.Asp1544Glu)
c.3909C>A (p.Asp1303Glu)
c.2460C>A (p.Asp820Glu)
2g.165386856C>GCA349036411SCN2Ac.4662C>G (p.Asp1554Glu)
c.*2981C>G (n.*2981C>G)
c.*2649C>G (n.*2649C>G)
c.*5185C>G (n.*5185C>G)
c.*2604C>G (n.*2604C>G)
c.4266C>G (p.Asp1422Glu)
n.8093C>G
c.4632C>G (p.Asp1544Glu)
c.3909C>G (p.Asp1303Glu)
c.2460C>G (p.Asp820Glu)
2g.165386856C>TCA429972611SCN2Ac.4662C>T (p.Asp1554=)
c.*2981C>T (n.*2981C>T)
c.*2649C>T (n.*2649C>T)
c.*5185C>T (n.*5185C>T)
c.*2604C>T (n.*2604C>T)
c.4266C>T (p.Asp1422=)
n.8093C>T
c.4632C>T (p.Asp1544=)
c.3909C>T (p.Asp1303=)
c.2460C>T (p.Asp820=)
 gnomAD v4
2g.165386857C>ACA349036412SCN2Ac.4663C>A (p.Gln1555Lys)
c.*2982C>A (n.*2982C>A)
c.*2650C>A (n.*2650C>A)
c.*5186C>A (n.*5186C>A)
c.*2605C>A (n.*2605C>A)
c.4267C>A (p.Gln1423Lys)
n.8094C>A
c.4633C>A (p.Gln1545Lys)
c.3910C>A (p.Gln1304Lys)
c.2461C>A (p.Gln821Lys)
2g.165386857C=CA1304563776SCN2Ac.4663C= (p.Gln1555=)
c.*2982C= (n.*2982C=)
c.*2650C= (n.*2650C=)
c.*5186C= (n.*5186C=)
c.*2605C= (n.*2605C=)
c.4267C= (p.Gln1423=)
n.8094C=
c.4633C= (p.Gln1545=)
c.3910C= (p.Gln1304=)
c.2461C= (p.Gln821=)
2g.165386857C>GCA349036416SCN2Ac.4663C>G (p.Gln1555Glu)
c.*2982C>G (n.*2982C>G)
c.*2650C>G (n.*2650C>G)
c.*5186C>G (n.*5186C>G)
c.*2605C>G (n.*2605C>G)
c.4267C>G (p.Gln1423Glu)
n.8094C>G
c.4633C>G (p.Gln1545Glu)
c.3910C>G (p.Gln1304Glu)
c.2461C>G (p.Gln821Glu)
2g.165386857C>TCA349036414SCN2Ac.4663C>T (p.Gln1555Ter)
c.*2982C>T (n.*2982C>T)
c.*2650C>T (n.*2650C>T)
c.*5186C>T (n.*5186C>T)
c.*2605C>T (n.*2605C>T)
c.4267C>T (p.Gln1423Ter)
n.8094C>T
c.4633C>T (p.Gln1545Ter)
c.3910C>T (p.Gln1304Ter)
c.2461C>T (p.Gln821Ter)
 dbSNP
2g.165386858A>CCA349036418SCN2Ac.4664A>C (p.Gln1555Pro)
c.*2983A>C (n.*2983A>C)
c.*2651A>C (n.*2651A>C)
c.*5187A>C (n.*5187A>C)
c.*2606A>C (n.*2606A>C)
c.4268A>C (p.Gln1423Pro)
n.8095A>C
c.4634A>C (p.Gln1545Pro)
c.3911A>C (p.Gln1304Pro)
c.2462A>C (p.Gln821Pro)
2g.165386858A>GCA349036421SCN2Ac.4664A>G (p.Gln1555Arg)
c.*2983A>G (n.*2983A>G)
c.*2651A>G (n.*2651A>G)
c.*5187A>G (n.*5187A>G)
c.*2606A>G (n.*2606A>G)
c.4268A>G (p.Gln1423Arg)
n.8095A>G
c.4634A>G (p.Gln1545Arg)
c.3911A>G (p.Gln1304Arg)
c.2462A>G (p.Gln821Arg)
2g.165386858A>TCA349036420SCN2Ac.4664A>T (p.Gln1555Leu)
c.*2983A>T (n.*2983A>T)
c.*2651A>T (n.*2651A>T)
c.*5187A>T (n.*5187A>T)
c.*2606A>T (n.*2606A>T)
c.4268A>T (p.Gln1423Leu)
n.8095A>T
c.4634A>T (p.Gln1545Leu)
c.3911A>T (p.Gln1304Leu)
c.2462A>T (p.Gln821Leu)
2g.165386859G>ACA429972613SCN2Ac.4665G>A (p.Gln1555=)
c.*2984G>A (n.*2984G>A)
c.*2652G>A (n.*2652G>A)
c.*5188G>A (n.*5188G>A)
c.*2607G>A (n.*2607G>A)
c.4269G>A (p.Gln1423=)
n.8096G>A
c.4635G>A (p.Gln1545=)
c.3912G>A (p.Gln1304=)
c.2463G>A (p.Gln821=)
2g.165386859G>CCA349036423SCN2Ac.4665G>C (p.Gln1555His)
c.*2984G>C (n.*2984G>C)
c.*2652G>C (n.*2652G>C)
c.*5188G>C (n.*5188G>C)
c.*2607G>C (n.*2607G>C)
c.4269G>C (p.Gln1423His)
n.8096G>C
c.4635G>C (p.Gln1545His)
c.3912G>C (p.Gln1304His)
c.2463G>C (p.Gln821His)
 ClinVar dbSNP
2g.165386859G=CA1304563777SCN2Ac.4665G= (p.Gln1555=)
c.*2984G= (n.*2984G=)
c.*2652G= (n.*2652G=)
c.*5188G= (n.*5188G=)
c.*2607G= (n.*2607G=)
c.4269G= (p.Gln1423=)
n.8096G=
c.4635G= (p.Gln1545=)
c.3912G= (p.Gln1304=)
c.2463G= (p.Gln821=)
2g.165386859G>TCA349036424SCN2Ac.4665G>T (p.Gln1555His)
c.*2984G>T (n.*2984G>T)
c.*2652G>T (n.*2652G>T)
c.*5188G>T (n.*5188G>T)
c.*2607G>T (n.*2607G>T)
c.4269G>T (p.Gln1423His)
n.8096G>T
c.4635G>T (p.Gln1545His)
c.3912G>T (p.Gln1304His)
c.2463G>T (p.Gln821His)
2g.165386860A>CCA349036425SCN2Ac.4666A>C (p.Ser1556Arg)
c.*2985A>C (n.*2985A>C)
c.*2653A>C (n.*2653A>C)
c.*5189A>C (n.*5189A>C)
c.*2608A>C (n.*2608A>C)
c.4270A>C (p.Ser1424Arg)
n.8097A>C
c.4636A>C (p.Ser1546Arg)
c.3913A>C (p.Ser1305Arg)
c.2464A>C (p.Ser822Arg)
2g.165386860A>GCA349036427SCN2Ac.4666A>G (p.Ser1556Gly)
c.*2985A>G (n.*2985A>G)
c.*2653A>G (n.*2653A>G)
c.*5189A>G (n.*5189A>G)
c.*2608A>G (n.*2608A>G)
c.4270A>G (p.Ser1424Gly)
n.8097A>G
c.4636A>G (p.Ser1546Gly)
c.3913A>G (p.Ser1305Gly)
c.2464A>G (p.Ser822Gly)
2g.165386860A>TCA349036428SCN2Ac.4666A>T (p.Ser1556Cys)
c.*2985A>T (n.*2985A>T)
c.*2653A>T (n.*2653A>T)
c.*5189A>T (n.*5189A>T)
c.*2608A>T (n.*2608A>T)
c.4270A>T (p.Ser1424Cys)
n.8097A>T
c.4636A>T (p.Ser1546Cys)
c.3913A>T (p.Ser1305Cys)
c.2464A>T (p.Ser822Cys)
2g.165386861G>ACA349036430SCN2Ac.4667G>A (p.Ser1556Asn)
c.*2986G>A (n.*2986G>A)
c.*2654G>A (n.*2654G>A)
c.*5190G>A (n.*5190G>A)
c.*2609G>A (n.*2609G>A)
c.4271G>A (p.Ser1424Asn)
n.8098G>A
c.4637G>A (p.Ser1546Asn)
c.3914G>A (p.Ser1305Asn)
c.2465G>A (p.Ser822Asn)
2g.165386861G>CCA349036432SCN2Ac.4667G>C (p.Ser1556Thr)
c.*2986G>C (n.*2986G>C)
c.*2654G>C (n.*2654G>C)
c.*5190G>C (n.*5190G>C)
c.*2609G>C (n.*2609G>C)
c.4271G>C (p.Ser1424Thr)
n.8098G>C
c.4637G>C (p.Ser1546Thr)
c.3914G>C (p.Ser1305Thr)
c.2465G>C (p.Ser822Thr)
 ClinVar
2g.165386861G=CA1304563778SCN2Ac.4667G= (p.Ser1556=)
c.*2986G= (n.*2986G=)
c.*2654G= (n.*2654G=)
c.*5190G= (n.*5190G=)
c.*2609G= (n.*2609G=)
c.4271G= (p.Ser1424=)
n.8098G=
c.4637G= (p.Ser1546=)
c.3914G= (p.Ser1305=)
c.2465G= (p.Ser822=)
2g.165386861G>TCA59750995SCN2Ac.4667G>T (p.Ser1556Ile)
c.*2986G>T (n.*2986G>T)
c.*2654G>T (n.*2654G>T)
c.*5190G>T (n.*5190G>T)
c.*2609G>T (n.*2609G>T)
c.4271G>T (p.Ser1424Ile)
n.8098G>T
c.4637G>T (p.Ser1546Ile)
c.3914G>T (p.Ser1305Ile)
c.2465G>T (p.Ser822Ile)
 dbSNP
2g.165386862T>ACA349036433SCN2Ac.4668T>A (p.Ser1556Arg)
c.*2987T>A (n.*2987T>A)
c.*2655T>A (n.*2655T>A)
c.*5191T>A (n.*5191T>A)
c.*2610T>A (n.*2610T>A)
c.4272T>A (p.Ser1424Arg)
n.8099T>A
c.4638T>A (p.Ser1546Arg)
c.3915T>A (p.Ser1305Arg)
c.2466T>A (p.Ser822Arg)
2g.165386862T>CCA429972617SCN2Ac.4668T>C (p.Ser1556=)
c.*2987T>C (n.*2987T>C)
c.*2655T>C (n.*2655T>C)
c.*5191T>C (n.*5191T>C)
c.*2610T>C (n.*2610T>C)
c.4272T>C (p.Ser1424=)
n.8099T>C
c.4638T>C (p.Ser1546=)
c.3915T>C (p.Ser1305=)
c.2466T>C (p.Ser822=)
2g.165386862T>GCA349036435SCN2Ac.4668T>G (p.Ser1556Arg)
c.*2987T>G (n.*2987T>G)
c.*2655T>G (n.*2655T>G)
c.*5191T>G (n.*5191T>G)
c.*2610T>G (n.*2610T>G)
c.4272T>G (p.Ser1424Arg)
n.8099T>G
c.4638T>G (p.Ser1546Arg)
c.3915T>G (p.Ser1305Arg)
c.2466T>G (p.Ser822Arg)
 dbSNP
2g.165386862T=CA1304563779SCN2Ac.4668T= (p.Ser1556=)
c.*2987T= (n.*2987T=)
c.*2655T= (n.*2655T=)
c.*5191T= (n.*5191T=)
c.*2610T= (n.*2610T=)
c.4272T= (p.Ser1424=)
n.8099T=
c.4638T= (p.Ser1546=)
c.3915T= (p.Ser1305=)
c.2466T= (p.Ser822=)
2g.165386863C>ACA349036440SCN2Ac.4669C>A (p.Gln1557Lys)
c.*2988C>A (n.*2988C>A)
c.*2656C>A (n.*2656C>A)
c.*5192C>A (n.*5192C>A)
c.*2611C>A (n.*2611C>A)
c.4273C>A (p.Gln1425Lys)
n.8100C>A
c.4639C>A (p.Gln1547Lys)
c.3916C>A (p.Gln1306Lys)
c.2467C>A (p.Gln823Lys)
2g.165386863C=CA1304563780SCN2Ac.4669C= (p.Gln1557=)
c.*2988C= (n.*2988C=)
c.*2656C= (n.*2656C=)
c.*5192C= (n.*5192C=)
c.*2611C= (n.*2611C=)
c.4273C= (p.Gln1425=)
n.8100C=
c.4639C= (p.Gln1547=)
c.3916C= (p.Gln1306=)
c.2467C= (p.Gln823=)
2g.165386863C>GCA349036438SCN2Ac.4669C>G (p.Gln1557Glu)
c.*2988C>G (n.*2988C>G)
c.*2656C>G (n.*2656C>G)
c.*5192C>G (n.*5192C>G)
c.*2611C>G (n.*2611C>G)
c.4273C>G (p.Gln1425Glu)
n.8100C>G
c.4639C>G (p.Gln1547Glu)
c.3916C>G (p.Gln1306Glu)
c.2467C>G (p.Gln823Glu)
2g.165386863C>TCA349036437SCN2Ac.4669C>T (p.Gln1557Ter)
c.*2988C>T (n.*2988C>T)
c.*2656C>T (n.*2656C>T)
c.*5192C>T (n.*5192C>T)
c.*2611C>T (n.*2611C>T)
c.4273C>T (p.Gln1425Ter)
n.8100C>T
c.4639C>T (p.Gln1547Ter)
c.3916C>T (p.Gln1306Ter)
c.2467C>T (p.Gln823Ter)
 dbSNP
2g.165386864A>CCA349036441SCN2Ac.4670A>C (p.Gln1557Pro)
c.*2989A>C (n.*2989A>C)
c.*2657A>C (n.*2657A>C)
c.*5193A>C (n.*5193A>C)
c.*2612A>C (n.*2612A>C)
c.4274A>C (p.Gln1425Pro)
n.8101A>C
c.4640A>C (p.Gln1547Pro)
c.3917A>C (p.Gln1306Pro)
c.2468A>C (p.Gln823Pro)
2g.165386864A>GCA349036442SCN2Ac.4670A>G (p.Gln1557Arg)
c.*2989A>G (n.*2989A>G)
c.*2657A>G (n.*2657A>G)
c.*5193A>G (n.*5193A>G)
c.*2612A>G (n.*2612A>G)
c.4274A>G (p.Gln1425Arg)
n.8101A>G
c.4640A>G (p.Gln1547Arg)
c.3917A>G (p.Gln1306Arg)
c.2468A>G (p.Gln823Arg)
 gnomAD v4
2g.165386864A>TCA349036444SCN2Ac.4670A>T (p.Gln1557Leu)
c.*2989A>T (n.*2989A>T)
c.*2657A>T (n.*2657A>T)
c.*5193A>T (n.*5193A>T)
c.*2612A>T (n.*2612A>T)
c.4274A>T (p.Gln1425Leu)
n.8101A>T
c.4640A>T (p.Gln1547Leu)
c.3917A>T (p.Gln1306Leu)
c.2468A>T (p.Gln823Leu)
2g.165386865dupCA760137600SCN2Ac.4671dup (p.Glu1558ArgfsTer10)
c.*2990dup (n.*2990dup)
c.*2658dup (n.*2658dup)
c.*5194dup (n.*5194dup)
c.*2613dup (n.*2613dup)
c.4275dup (p.Glu1426ArgfsTer10)
n.8102dup
c.4641dup (p.Glu1548ArgfsTer10)
c.3918dup (p.Glu1307ArgfsTer10)
c.2469dup (p.Glu824ArgfsTer10)
 dbSNP
2g.165386865A=CA1304563781SCN2Ac.4671A= (p.Gln1557=)
c.*2990A= (n.*2990A=)
c.*2658A= (n.*2658A=)
c.*5194A= (n.*5194A=)
c.*2613A= (n.*2613A=)
c.4275A= (p.Gln1425=)
n.8102A=
c.4641A= (p.Gln1547=)
c.3918A= (p.Gln1306=)
c.2469A= (p.Gln823=)
2g.165386865A>CCA349036446SCN2Ac.4671A>C (p.Gln1557His)
c.*2990A>C (n.*2990A>C)
c.*2658A>C (n.*2658A>C)
c.*5194A>C (n.*5194A>C)
c.*2613A>C (n.*2613A>C)
c.4275A>C (p.Gln1425His)
n.8102A>C
c.4641A>C (p.Gln1547His)
c.3918A>C (p.Gln1306His)
c.2469A>C (p.Gln823His)
2g.165386865A>GCA1940314SCN2Ac.4671A>G (p.Gln1557=)
c.*2990A>G (n.*2990A>G)
c.*2658A>G (n.*2658A>G)
c.*5194A>G (n.*5194A>G)
c.*2613A>G (n.*2613A>G)
c.4275A>G (p.Gln1425=)
n.8102A>G
c.4641A>G (p.Gln1547=)
c.3918A>G (p.Gln1306=)
c.2469A>G (p.Gln823=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386865A>TCA349036448SCN2Ac.4671A>T (p.Gln1557His)
c.*2990A>T (n.*2990A>T)
c.*2658A>T (n.*2658A>T)
c.*5194A>T (n.*5194A>T)
c.*2613A>T (n.*2613A>T)
c.4275A>T (p.Gln1425His)
n.8102A>T
c.4641A>T (p.Gln1547His)
c.3918A>T (p.Gln1306His)
c.2469A>T (p.Gln823His)
2g.165386866G>ACA349036449SCN2Ac.4672G>A (p.Glu1558Lys)
c.*2991G>A (n.*2991G>A)
c.*2659G>A (n.*2659G>A)
c.*5195G>A (n.*5195G>A)
c.*2614G>A (n.*2614G>A)
c.4276G>A (p.Glu1426Lys)
n.8103G>A
c.4642G>A (p.Glu1548Lys)
c.3919G>A (p.Glu1307Lys)
c.2470G>A (p.Glu824Lys)
 COSMIC COSMIC
2g.165386866G>CCA349036451SCN2Ac.4672G>C (p.Glu1558Gln)
c.*2991G>C (n.*2991G>C)
c.*2659G>C (n.*2659G>C)
c.*5195G>C (n.*5195G>C)
c.*2614G>C (n.*2614G>C)
c.4276G>C (p.Glu1426Gln)
n.8103G>C
c.4642G>C (p.Glu1548Gln)
c.3919G>C (p.Glu1307Gln)
c.2470G>C (p.Glu824Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165386866G=CA1304563782SCN2Ac.4672G= (p.Glu1558=)
c.*2991G= (n.*2991G=)
c.*2659G= (n.*2659G=)
c.*5195G= (n.*5195G=)
c.*2614G= (n.*2614G=)
c.4276G= (p.Glu1426=)
n.8103G=
c.4642G= (p.Glu1548=)
c.3919G= (p.Glu1307=)
c.2470G= (p.Glu824=)
2g.165386866G>TCA349036452SCN2Ac.4672G>T (p.Glu1558Ter)
c.*2991G>T (n.*2991G>T)
c.*2659G>T (n.*2659G>T)
c.*5195G>T (n.*5195G>T)
c.*2614G>T (n.*2614G>T)
c.4276G>T (p.Glu1426Ter)
n.8103G>T
c.4642G>T (p.Glu1548Ter)
c.3919G>T (p.Glu1307Ter)
c.2470G>T (p.Glu824Ter)
 dbSNP
2g.165386867A>CCA349036454SCN2Ac.4673A>C (p.Glu1558Ala)
c.*2992A>C (n.*2992A>C)
c.*2660A>C (n.*2660A>C)
c.*5196A>C (n.*5196A>C)
c.*2615A>C (n.*2615A>C)
c.4277A>C (p.Glu1426Ala)
n.8104A>C
c.4643A>C (p.Glu1548Ala)
c.3920A>C (p.Glu1307Ala)
c.2471A>C (p.Glu824Ala)
2g.165386867A>GCA349036455SCN2Ac.4673A>G (p.Glu1558Gly)
c.*2992A>G (n.*2992A>G)
c.*2660A>G (n.*2660A>G)
c.*5196A>G (n.*5196A>G)
c.*2615A>G (n.*2615A>G)
c.4277A>G (p.Glu1426Gly)
n.8104A>G
c.4643A>G (p.Glu1548Gly)
c.3920A>G (p.Glu1307Gly)
c.2471A>G (p.Glu824Gly)
2g.165386867A>TCA349036456SCN2Ac.4673A>T (p.Glu1558Val)
c.*2992A>T (n.*2992A>T)
c.*2660A>T (n.*2660A>T)
c.*5196A>T (n.*5196A>T)
c.*2615A>T (n.*2615A>T)
c.4277A>T (p.Glu1426Val)
n.8104A>T
c.4643A>T (p.Glu1548Val)
c.3920A>T (p.Glu1307Val)
c.2471A>T (p.Glu824Val)
2g.165386868A>CCA349036458SCN2Ac.4674A>C (p.Glu1558Asp)
c.*2993A>C (n.*2993A>C)
c.*2661A>C (n.*2661A>C)
c.*5197A>C (n.*5197A>C)
c.*2616A>C (n.*2616A>C)
c.4278A>C (p.Glu1426Asp)
n.8105A>C
c.4644A>C (p.Glu1548Asp)
c.3921A>C (p.Glu1307Asp)
c.2472A>C (p.Glu824Asp)
2g.165386868A>GCA429972627SCN2Ac.4674A>G (p.Glu1558=)
c.*2993A>G (n.*2993A>G)
c.*2661A>G (n.*2661A>G)
c.*5197A>G (n.*5197A>G)
c.*2616A>G (n.*2616A>G)
c.4278A>G (p.Glu1426=)
n.8105A>G
c.4644A>G (p.Glu1548=)
c.3921A>G (p.Glu1307=)
c.2472A>G (p.Glu824=)
2g.165386868A>TCA349036459SCN2Ac.4674A>T (p.Glu1558Asp)
c.*2993A>T (n.*2993A>T)
c.*2661A>T (n.*2661A>T)
c.*5197A>T (n.*5197A>T)
c.*2616A>T (n.*2616A>T)
c.4278A>T (p.Glu1426Asp)
n.8105A>T
c.4644A>T (p.Glu1548Asp)
c.3921A>T (p.Glu1307Asp)
c.2472A>T (p.Glu824Asp)
2g.165386869A=CA1304563783SCN2Ac.4675A= (p.Met1559=)
c.*2994A= (n.*2994A=)
c.*2662A= (n.*2662A=)
c.*5198A= (n.*5198A=)
c.*2617A= (n.*2617A=)
c.4279A= (p.Met1427=)
n.8106A=
c.4645A= (p.Met1549=)
c.3922A= (p.Met1308=)
c.2473A= (p.Met825=)
2g.165386869A>CCA349036460SCN2Ac.4675A>C (p.Met1559Leu)
c.*2994A>C (n.*2994A>C)
c.*2662A>C (n.*2662A>C)
c.*5198A>C (n.*5198A>C)
c.*2617A>C (n.*2617A>C)
c.4279A>C (p.Met1427Leu)
n.8106A>C
c.4645A>C (p.Met1549Leu)
c.3922A>C (p.Met1308Leu)
c.2473A>C (p.Met825Leu)
 dbSNP
2g.165386869A>GCA349036461SCN2Ac.4675A>G (p.Met1559Val)
c.*2994A>G (n.*2994A>G)
c.*2662A>G (n.*2662A>G)
c.*5198A>G (n.*5198A>G)
c.*2617A>G (n.*2617A>G)
c.4279A>G (p.Met1427Val)
n.8106A>G
c.4645A>G (p.Met1549Val)
c.3922A>G (p.Met1308Val)
c.2473A>G (p.Met825Val)
 dbSNP gnomAD v2 gnomAD v4
2g.165386869A>TCA349036462SCN2Ac.4675A>T (p.Met1559Leu)
c.*2994A>T (n.*2994A>T)
c.*2662A>T (n.*2662A>T)
c.*5198A>T (n.*5198A>T)
c.*2617A>T (n.*2617A>T)
c.4279A>T (p.Met1427Leu)
n.8106A>T
c.4645A>T (p.Met1549Leu)
c.3922A>T (p.Met1308Leu)
c.2473A>T (p.Met825Leu)
2g.165386870T>ACA349036464SCN2Ac.4676T>A (p.Met1559Lys)
c.*2995T>A (n.*2995T>A)
c.*2663T>A (n.*2663T>A)
c.*5199T>A (n.*5199T>A)
c.*2618T>A (n.*2618T>A)
c.4280T>A (p.Met1427Lys)
n.8107T>A
c.4646T>A (p.Met1549Lys)
c.3923T>A (p.Met1308Lys)
c.2474T>A (p.Met825Lys)
2g.165386870T>CCA349036465SCN2Ac.4676T>C (p.Met1559Thr)
c.*2995T>C (n.*2995T>C)
c.*2663T>C (n.*2663T>C)
c.*5199T>C (n.*5199T>C)
c.*2618T>C (n.*2618T>C)
c.4280T>C (p.Met1427Thr)
n.8107T>C
c.4646T>C (p.Met1549Thr)
c.3923T>C (p.Met1308Thr)
c.2474T>C (p.Met825Thr)
2g.165386870T>GCA349036467SCN2Ac.4676T>G (p.Met1559Arg)
c.*2995T>G (n.*2995T>G)
c.*2663T>G (n.*2663T>G)
c.*5199T>G (n.*5199T>G)
c.*2618T>G (n.*2618T>G)
c.4280T>G (p.Met1427Arg)
n.8107T>G
c.4646T>G (p.Met1549Arg)
c.3923T>G (p.Met1308Arg)
c.2474T>G (p.Met825Arg)
2g.165386871G>ACA349036468SCN2Ac.4677G>A (p.Met1559Ile)
c.*2996G>A (n.*2996G>A)
c.*2664G>A (n.*2664G>A)
c.*5200G>A (n.*5200G>A)
c.*2619G>A (n.*2619G>A)
c.4281G>A (p.Met1427Ile)
n.8108G>A
c.4647G>A (p.Met1549Ile)
c.3924G>A (p.Met1308Ile)
c.2475G>A (p.Met825Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.165386871G>CCA349036469SCN2Ac.4677G>C (p.Met1559Ile)
c.*2996G>C (n.*2996G>C)
c.*2664G>C (n.*2664G>C)
c.*5200G>C (n.*5200G>C)
c.*2619G>C (n.*2619G>C)
c.4281G>C (p.Met1427Ile)
n.8108G>C
c.4647G>C (p.Met1549Ile)
c.3924G>C (p.Met1308Ile)
c.2475G>C (p.Met825Ile)
2g.165386871G=CA1304563784SCN2Ac.4677G= (p.Met1559=)
c.*2996G= (n.*2996G=)
c.*2664G= (n.*2664G=)
c.*5200G= (n.*5200G=)
c.*2619G= (n.*2619G=)
c.4281G= (p.Met1427=)
n.8108G=
c.4647G= (p.Met1549=)
c.3924G= (p.Met1308=)
c.2475G= (p.Met825=)
2g.165386871G>TCA349036471SCN2Ac.4677G>T (p.Met1559Ile)
c.*2996G>T (n.*2996G>T)
c.*2664G>T (n.*2664G>T)
c.*5200G>T (n.*5200G>T)
c.*2619G>T (n.*2619G>T)
c.4281G>T (p.Met1427Ile)
n.8108G>T
c.4647G>T (p.Met1549Ile)
c.3924G>T (p.Met1308Ile)
c.2475G>T (p.Met825Ile)
 dbSNP
2g.165386872A>CCA349036472SCN2Ac.4678A>C (p.Thr1560Pro)
c.*2997A>C (n.*2997A>C)
c.*2665A>C (n.*2665A>C)
c.*5201A>C (n.*5201A>C)
c.*2620A>C (n.*2620A>C)
c.4282A>C (p.Thr1428Pro)
n.8109A>C
c.4648A>C (p.Thr1550Pro)
c.3925A>C (p.Thr1309Pro)
c.2476A>C (p.Thr826Pro)
2g.165386872A>GCA349036474SCN2Ac.4678A>G (p.Thr1560Ala)
c.*2997A>G (n.*2997A>G)
c.*2665A>G (n.*2665A>G)
c.*5201A>G (n.*5201A>G)
c.*2620A>G (n.*2620A>G)
c.4282A>G (p.Thr1428Ala)
n.8109A>G
c.4648A>G (p.Thr1550Ala)
c.3925A>G (p.Thr1309Ala)
c.2476A>G (p.Thr826Ala)
2g.165386872A>TCA349036475SCN2Ac.4678A>T (p.Thr1560Ser)
c.*2997A>T (n.*2997A>T)
c.*2665A>T (n.*2665A>T)
c.*5201A>T (n.*5201A>T)
c.*2620A>T (n.*2620A>T)
c.4282A>T (p.Thr1428Ser)
n.8109A>T
c.4648A>T (p.Thr1550Ser)
c.3925A>T (p.Thr1309Ser)
c.2476A>T (p.Thr826Ser)
2g.165386873C>ACA349036480SCN2Ac.4679C>A (p.Thr1560Lys)
c.*2998C>A (n.*2998C>A)
c.*2666C>A (n.*2666C>A)
c.*5202C>A (n.*5202C>A)
c.*2621C>A (n.*2621C>A)
c.4283C>A (p.Thr1428Lys)
n.8110C>A
c.4649C>A (p.Thr1550Lys)
c.3926C>A (p.Thr1309Lys)
c.2477C>A (p.Thr826Lys)
2g.165386873C>GCA349036477SCN2Ac.4679C>G (p.Thr1560Arg)
c.*2998C>G (n.*2998C>G)
c.*2666C>G (n.*2666C>G)
c.*5202C>G (n.*5202C>G)
c.*2621C>G (n.*2621C>G)
c.4283C>G (p.Thr1428Arg)
n.8110C>G
c.4649C>G (p.Thr1550Arg)
c.3926C>G (p.Thr1309Arg)
c.2477C>G (p.Thr826Arg)
2g.165386873C>TCA349036478SCN2Ac.4679C>T (p.Thr1560Ile)
c.*2998C>T (n.*2998C>T)
c.*2666C>T (n.*2666C>T)
c.*5202C>T (n.*5202C>T)
c.*2621C>T (n.*2621C>T)
c.4283C>T (p.Thr1428Ile)
n.8110C>T
c.4649C>T (p.Thr1550Ile)
c.3926C>T (p.Thr1309Ile)
c.2477C>T (p.Thr826Ile)
 gnomAD v4
2g.165386874A>CCA429972632SCN2Ac.4680A>C (p.Thr1560=)
c.*2999A>C (n.*2999A>C)
c.*2667A>C (n.*2667A>C)
c.*5203A>C (n.*5203A>C)
c.*2622A>C (n.*2622A>C)
c.4284A>C (p.Thr1428=)
n.8111A>C
c.4650A>C (p.Thr1550=)
c.3927A>C (p.Thr1309=)
c.2478A>C (p.Thr826=)
2g.165386874A>GCA429972633SCN2Ac.4680A>G (p.Thr1560=)
c.*2999A>G (n.*2999A>G)
c.*2667A>G (n.*2667A>G)
c.*5203A>G (n.*5203A>G)
c.*2622A>G (n.*2622A>G)
c.4284A>G (p.Thr1428=)
n.8111A>G
c.4650A>G (p.Thr1550=)
c.3927A>G (p.Thr1309=)
c.2478A>G (p.Thr826=)
2g.165386874A>TCA429972634SCN2Ac.4680A>T (p.Thr1560=)
c.*2999A>T (n.*2999A>T)
c.*2667A>T (n.*2667A>T)
c.*5203A>T (n.*5203A>T)
c.*2622A>T (n.*2622A>T)
c.4284A>T (p.Thr1428=)
n.8111A>T
c.4650A>T (p.Thr1550=)
c.3927A>T (p.Thr1309=)
c.2478A>T (p.Thr826=)
2g.165386875A>CCA349036482SCN2Ac.4681A>C (p.Asn1561His)
c.*3000A>C (n.*3000A>C)
c.*2668A>C (n.*2668A>C)
c.*5204A>C (n.*5204A>C)
c.*2623A>C (n.*2623A>C)
c.4285A>C (p.Asn1429His)
n.8112A>C
c.4651A>C (p.Asn1551His)
c.3928A>C (p.Asn1310His)
c.2479A>C (p.Asn827His)
2g.165386875A>GCA349036483SCN2Ac.4681A>G (p.Asn1561Asp)
c.*3000A>G (n.*3000A>G)
c.*2668A>G (n.*2668A>G)
c.*5204A>G (n.*5204A>G)
c.*2623A>G (n.*2623A>G)
c.4285A>G (p.Asn1429Asp)
n.8112A>G
c.4651A>G (p.Asn1551Asp)
c.3928A>G (p.Asn1310Asp)
c.2479A>G (p.Asn827Asp)
2g.165386875A>TCA349036484SCN2Ac.4681A>T (p.Asn1561Tyr)
c.*3000A>T (n.*3000A>T)
c.*2668A>T (n.*2668A>T)
c.*5204A>T (n.*5204A>T)
c.*2623A>T (n.*2623A>T)
c.4285A>T (p.Asn1429Tyr)
n.8112A>T
c.4651A>T (p.Asn1551Tyr)
c.3928A>T (p.Asn1310Tyr)
c.2479A>T (p.Asn827Tyr)
2g.165386876A>CCA349036486SCN2Ac.4682A>C (p.Asn1561Thr)
c.*3001A>C (n.*3001A>C)
c.*2669A>C (n.*2669A>C)
c.*5205A>C (n.*5205A>C)
c.*2624A>C (n.*2624A>C)
c.4286A>C (p.Asn1429Thr)
n.8113A>C
c.4652A>C (p.Asn1551Thr)
c.3929A>C (p.Asn1310Thr)
c.2480A>C (p.Asn827Thr)
2g.165386876A>GCA349036488SCN2Ac.4682A>G (p.Asn1561Ser)
c.*3001A>G (n.*3001A>G)
c.*2669A>G (n.*2669A>G)
c.*5205A>G (n.*5205A>G)
c.*2624A>G (n.*2624A>G)
c.4286A>G (p.Asn1429Ser)
n.8113A>G
c.4652A>G (p.Asn1551Ser)
c.3929A>G (p.Asn1310Ser)
c.2480A>G (p.Asn827Ser)
 gnomAD v4
2g.165386876A>TCA349036489SCN2Ac.4682A>T (p.Asn1561Ile)
c.*3001A>T (n.*3001A>T)
c.*2669A>T (n.*2669A>T)
c.*5205A>T (n.*5205A>T)
c.*2624A>T (n.*2624A>T)
c.4286A>T (p.Asn1429Ile)
n.8113A>T
c.4652A>T (p.Asn1551Ile)
c.3929A>T (p.Asn1310Ile)
c.2480A>T (p.Asn827Ile)
2g.165386877C>ACA349036491SCN2Ac.4683C>A (p.Asn1561Lys)
c.*3002C>A (n.*3002C>A)
c.*2670C>A (n.*2670C>A)
c.*5206C>A (n.*5206C>A)
c.*2625C>A (n.*2625C>A)
c.4287C>A (p.Asn1429Lys)
n.8114C>A
c.4653C>A (p.Asn1551Lys)
c.3930C>A (p.Asn1310Lys)
c.2481C>A (p.Asn827Lys)
 dbSNP
2g.165386877C=CA1304563785SCN2Ac.4683C= (p.Asn1561=)
c.*3002C= (n.*3002C=)
c.*2670C= (n.*2670C=)
c.*5206C= (n.*5206C=)
c.*2625C= (n.*2625C=)
c.4287C= (p.Asn1429=)
n.8114C=
c.4653C= (p.Asn1551=)
c.3930C= (p.Asn1310=)
c.2481C= (p.Asn827=)
2g.165386877C>GCA349036492SCN2Ac.4683C>G (p.Asn1561Lys)
c.*3002C>G (n.*3002C>G)
c.*2670C>G (n.*2670C>G)
c.*5206C>G (n.*5206C>G)
c.*2625C>G (n.*2625C>G)
c.4287C>G (p.Asn1429Lys)
n.8114C>G
c.4653C>G (p.Asn1551Lys)
c.3930C>G (p.Asn1310Lys)
c.2481C>G (p.Asn827Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165386877C>TCA429972635SCN2Ac.4683C>T (p.Asn1561=)
c.*3002C>T (n.*3002C>T)
c.*2670C>T (n.*2670C>T)
c.*5206C>T (n.*5206C>T)
c.*2625C>T (n.*2625C>T)
c.4287C>T (p.Asn1429=)
n.8114C>T
c.4653C>T (p.Asn1551=)
c.3930C>T (p.Asn1310=)
c.2481C>T (p.Asn827=)
 dbSNP gnomAD v4
2g.165386878A=CA1304563786SCN2Ac.4684A= (p.Ile1562=)
c.*3003A= (n.*3003A=)
c.*2671A= (n.*2671A=)
c.*5207A= (n.*5207A=)
c.*2626A= (n.*2626A=)
c.4288A= (p.Ile1430=)
n.8115A=
c.4654A= (p.Ile1552=)
c.3931A= (p.Ile1311=)
c.2482A= (p.Ile828=)
2g.165386878A>CCA349036494SCN2Ac.4684A>C (p.Ile1562Leu)
c.*3003A>C (n.*3003A>C)
c.*2671A>C (n.*2671A>C)
c.*5207A>C (n.*5207A>C)
c.*2626A>C (n.*2626A>C)
c.4288A>C (p.Ile1430Leu)
n.8115A>C
c.4654A>C (p.Ile1552Leu)
c.3931A>C (p.Ile1311Leu)
c.2482A>C (p.Ile828Leu)
2g.165386878A>GCA1940315SCN2Ac.4684A>G (p.Ile1562Val)
c.*3003A>G (n.*3003A>G)
c.*2671A>G (n.*2671A>G)
c.*5207A>G (n.*5207A>G)
c.*2626A>G (n.*2626A>G)
c.4288A>G (p.Ile1430Val)
n.8115A>G
c.4654A>G (p.Ile1552Val)
c.3931A>G (p.Ile1311Val)
c.2482A>G (p.Ile828Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386878A>TCA349036496SCN2Ac.4684A>T (p.Ile1562Phe)
c.*3003A>T (n.*3003A>T)
c.*2671A>T (n.*2671A>T)
c.*5207A>T (n.*5207A>T)
c.*2626A>T (n.*2626A>T)
c.4288A>T (p.Ile1430Phe)
n.8115A>T
c.4654A>T (p.Ile1552Phe)
c.3931A>T (p.Ile1311Phe)
c.2482A>T (p.Ile828Phe)
2g.165386879T>ACA349036500SCN2Ac.4685T>A (p.Ile1562Asn)
c.*3004T>A (n.*3004T>A)
c.*2672T>A (n.*2672T>A)
c.*5208T>A (n.*5208T>A)
c.*2627T>A (n.*2627T>A)
c.4289T>A (p.Ile1430Asn)
n.8116T>A
c.4655T>A (p.Ile1552Asn)
c.3932T>A (p.Ile1311Asn)
c.2483T>A (p.Ile828Asn)
2g.165386879T>CCA349036501SCN2Ac.4685T>C (p.Ile1562Thr)
c.*3004T>C (n.*3004T>C)
c.*2672T>C (n.*2672T>C)
c.*5208T>C (n.*5208T>C)
c.*2627T>C (n.*2627T>C)
c.4289T>C (p.Ile1430Thr)
n.8116T>C
c.4655T>C (p.Ile1552Thr)
c.3932T>C (p.Ile1311Thr)
c.2483T>C (p.Ile828Thr)
2g.165386879T>GCA349036498SCN2Ac.4685T>G (p.Ile1562Ser)
c.*3004T>G (n.*3004T>G)
c.*2672T>G (n.*2672T>G)
c.*5208T>G (n.*5208T>G)
c.*2627T>G (n.*2627T>G)
c.4289T>G (p.Ile1430Ser)
n.8116T>G
c.4655T>G (p.Ile1552Ser)
c.3932T>G (p.Ile1311Ser)
c.2483T>G (p.Ile828Ser)
2g.165386880T>ACA429972637SCN2Ac.4686T>A (p.Ile1562=)
c.*3005T>A (n.*3005T>A)
c.*2673T>A (n.*2673T>A)
c.*5209T>A (n.*5209T>A)
c.*2628T>A (n.*2628T>A)
c.4290T>A (p.Ile1430=)
n.8117T>A
c.4656T>A (p.Ile1552=)
c.3933T>A (p.Ile1311=)
c.2484T>A (p.Ile828=)
 ClinVar gnomAD v4
2g.165386880T>CCA429972636SCN2Ac.4686T>C (p.Ile1562=)
c.*3005T>C (n.*3005T>C)
c.*2673T>C (n.*2673T>C)
c.*5209T>C (n.*5209T>C)
c.*2628T>C (n.*2628T>C)
c.4290T>C (p.Ile1430=)
n.8117T>C
c.4656T>C (p.Ile1552=)
c.3933T>C (p.Ile1311=)
c.2484T>C (p.Ile828=)
 gnomAD v4
2g.165386880T>GCA349036502SCN2Ac.4686T>G (p.Ile1562Met)
c.*3005T>G (n.*3005T>G)
c.*2673T>G (n.*2673T>G)
c.*5209T>G (n.*5209T>G)
c.*2628T>G (n.*2628T>G)
c.4290T>G (p.Ile1430Met)
n.8117T>G
c.4656T>G (p.Ile1552Met)
c.3933T>G (p.Ile1311Met)
c.2484T>G (p.Ile828Met)
2g.165386881C>ACA349036504SCN2Ac.4687C>A (p.Leu1563Met)
c.*3006C>A (n.*3006C>A)
c.*2674C>A (n.*2674C>A)
c.*5210C>A (n.*5210C>A)
c.*2629C>A (n.*2629C>A)
c.4291C>A (p.Leu1431Met)
n.8118C>A
c.4657C>A (p.Leu1553Met)
c.3934C>A (p.Leu1312Met)
c.2485C>A (p.Leu829Met)
 COSMIC COSMIC
2g.165386881C=CA1304563787SCN2Ac.4687C= (p.Leu1563=)
c.*3006C= (n.*3006C=)
c.*2674C= (n.*2674C=)
c.*5210C= (n.*5210C=)
c.*2629C= (n.*2629C=)
c.4291C= (p.Leu1431=)
n.8118C=
c.4657C= (p.Leu1553=)
c.3934C= (p.Leu1312=)
c.2485C= (p.Leu829=)
2g.165386881C>GCA122769SCN2Ac.4687C>G (p.Leu1563Val)
c.*3006C>G (n.*3006C>G)
c.*2674C>G (n.*2674C>G)
c.*5210C>G (n.*5210C>G)
c.*2629C>G (n.*2629C>G)
c.4291C>G (p.Leu1431Val)
n.8118C>G
c.4657C>G (p.Leu1553Val)
c.3934C>G (p.Leu1312Val)
c.2485C>G (p.Leu829Val)
 ClinVar dbSNP
2g.165386881C>TCA429972638SCN2Ac.4687C>T (p.Leu1563=)
c.*3006C>T (n.*3006C>T)
c.*2674C>T (n.*2674C>T)
c.*5210C>T (n.*5210C>T)
c.*2629C>T (n.*2629C>T)
c.4291C>T (p.Leu1431=)
n.8118C>T
c.4657C>T (p.Leu1553=)
c.3934C>T (p.Leu1312=)
c.2485C>T (p.Leu829=)
2g.165386882T>ACA349036506SCN2Ac.4688T>A (p.Leu1563Gln)
c.*3007T>A (n.*3007T>A)
c.*2675T>A (n.*2675T>A)
c.*5211T>A (n.*5211T>A)
c.*2630T>A (n.*2630T>A)
c.4292T>A (p.Leu1431Gln)
n.8119T>A
c.4658T>A (p.Leu1553Gln)
c.3935T>A (p.Leu1312Gln)
c.2486T>A (p.Leu829Gln)
2g.165386882T>CCA349036508SCN2Ac.4688T>C (p.Leu1563Pro)
c.*3007T>C (n.*3007T>C)
c.*2675T>C (n.*2675T>C)
c.*5211T>C (n.*5211T>C)
c.*2630T>C (n.*2630T>C)
c.4292T>C (p.Leu1431Pro)
n.8119T>C
c.4658T>C (p.Leu1553Pro)
c.3935T>C (p.Leu1312Pro)
c.2486T>C (p.Leu829Pro)
2g.165386882T>GCA349036509SCN2Ac.4688T>G (p.Leu1563Arg)
c.*3007T>G (n.*3007T>G)
c.*2675T>G (n.*2675T>G)
c.*5211T>G (n.*5211T>G)
c.*2630T>G (n.*2630T>G)
c.4292T>G (p.Leu1431Arg)
n.8119T>G
c.4658T>G (p.Leu1553Arg)
c.3935T>G (p.Leu1312Arg)
c.2486T>G (p.Leu829Arg)
 ClinVar dbSNP
2g.165386882T=CA1304563788SCN2Ac.4688T= (p.Leu1563=)
c.*3007T= (n.*3007T=)
c.*2675T= (n.*2675T=)
c.*5211T= (n.*5211T=)
c.*2630T= (n.*2630T=)
c.4292T= (p.Leu1431=)
n.8119T=
c.4658T= (p.Leu1553=)
c.3935T= (p.Leu1312=)
c.2486T= (p.Leu829=)
2g.165386883G>ACA429972352SCN2Ac.4689G>A (p.Leu1563=)
c.*3008G>A (n.*3008G>A)
c.*2676G>A (n.*2676G>A)
c.*5212G>A (n.*5212G>A)
c.*2631G>A (n.*2631G>A)
c.4293G>A (p.Leu1431=)
n.8120G>A
c.4659G>A (p.Leu1553=)
c.3936G>A (p.Leu1312=)
c.2487G>A (p.Leu829=)
2g.165386883G>CCA429972354SCN2Ac.4689G>C (p.Leu1563=)
c.*3008G>C (n.*3008G>C)
c.*2676G>C (n.*2676G>C)
c.*5212G>C (n.*5212G>C)
c.*2631G>C (n.*2631G>C)
c.4293G>C (p.Leu1431=)
n.8120G>C
c.4659G>C (p.Leu1553=)
c.3936G>C (p.Leu1312=)
c.2487G>C (p.Leu829=)
2g.165386883G>TCA429972355SCN2Ac.4689G>T (p.Leu1563=)
c.*3008G>T (n.*3008G>T)
c.*2676G>T (n.*2676G>T)
c.*5212G>T (n.*5212G>T)
c.*2631G>T (n.*2631G>T)
c.4293G>T (p.Leu1431=)
n.8120G>T
c.4659G>T (p.Leu1553=)
c.3936G>T (p.Leu1312=)
c.2487G>T (p.Leu829=)
 gnomAD v4
2g.165386884T>ACA349036511SCN2Ac.4690T>A (p.Tyr1564Asn)
c.*3009T>A (n.*3009T>A)
c.*2677T>A (n.*2677T>A)
c.*5213T>A (n.*5213T>A)
c.*2632T>A (n.*2632T>A)
c.4294T>A (p.Tyr1432Asn)
n.8121T>A
c.4660T>A (p.Tyr1554Asn)
c.3937T>A (p.Tyr1313Asn)
c.2488T>A (p.Tyr830Asn)
2g.165386884T>CCA349036513SCN2Ac.4690T>C (p.Tyr1564His)
c.*3009T>C (n.*3009T>C)
c.*2677T>C (n.*2677T>C)
c.*5213T>C (n.*5213T>C)
c.*2632T>C (n.*2632T>C)
c.4294T>C (p.Tyr1432His)
n.8121T>C
c.4660T>C (p.Tyr1554His)
c.3937T>C (p.Tyr1313His)
c.2488T>C (p.Tyr830His)
2g.165386884T>GCA349036514SCN2Ac.4690T>G (p.Tyr1564Asp)
c.*3009T>G (n.*3009T>G)
c.*2677T>G (n.*2677T>G)
c.*5213T>G (n.*5213T>G)
c.*2632T>G (n.*2632T>G)
c.4294T>G (p.Tyr1432Asp)
n.8121T>G
c.4660T>G (p.Tyr1554Asp)
c.3937T>G (p.Tyr1313Asp)
c.2488T>G (p.Tyr830Asp)
2g.165386884_165386886delinsTACCA1304563789SCN2Ac.4690_4692delinsTAC (p.Tyr1564=)
c.*3009_*3011delinsTAC (n.*3009_*3011delinsTAC)
c.*2677_*2679delinsTAC (n.*2677_*2679delinsTAC)
c.*5213_*5215delinsTAC (n.*5213_*5215delinsTAC)
c.*2632_*2634delinsTAC (n.*2632_*2634delinsTAC)
c.4294_4296delinsTAC (p.Tyr1432=)
n.8121_8123delinsTAC
c.4660_4662delinsTAC (p.Tyr1554=)
c.3937_3939delinsTAC (p.Tyr1313=)
c.2488_2490delinsTAC (p.Tyr830=)
2g.165386885A=CA1304563790SCN2Ac.4691A= (p.Tyr1564=)
c.*3010A= (n.*3010A=)
c.*2678A= (n.*2678A=)
c.*5214A= (n.*5214A=)
c.*2633A= (n.*2633A=)
c.4295A= (p.Tyr1432=)
n.8122A=
c.4661A= (p.Tyr1554=)
c.3938A= (p.Tyr1313=)
c.2489A= (p.Tyr830=)
2g.165386885A>CCA349036516SCN2Ac.4691A>C (p.Tyr1564Ser)
c.*3010A>C (n.*3010A>C)
c.*2678A>C (n.*2678A>C)
c.*5214A>C (n.*5214A>C)
c.*2633A>C (n.*2633A>C)
c.4295A>C (p.Tyr1432Ser)
n.8122A>C
c.4661A>C (p.Tyr1554Ser)
c.3938A>C (p.Tyr1313Ser)
c.2489A>C (p.Tyr830Ser)
2g.165386885A>GCA349036517SCN2Ac.4691A>G (p.Tyr1564Cys)
c.*3010A>G (n.*3010A>G)
c.*2678A>G (n.*2678A>G)
c.*5214A>G (n.*5214A>G)
c.*2633A>G (n.*2633A>G)
c.4295A>G (p.Tyr1432Cys)
n.8122A>G
c.4661A>G (p.Tyr1554Cys)
c.3938A>G (p.Tyr1313Cys)
c.2489A>G (p.Tyr830Cys)
 dbSNP
2g.165386885A>TCA349036518SCN2Ac.4691A>T (p.Tyr1564Phe)
c.*3010A>T (n.*3010A>T)
c.*2678A>T (n.*2678A>T)
c.*5214A>T (n.*5214A>T)
c.*2633A>T (n.*2633A>T)
c.4295A>T (p.Tyr1432Phe)
n.8122A>T
c.4661A>T (p.Tyr1554Phe)
c.3938A>T (p.Tyr1313Phe)
c.2489A>T (p.Tyr830Phe)
2g.165386885_165386886delCA658795941SCN2Ac.4691_4692del (p.Tyr1564LeufsTer3)
c.*3010_*3011del (n.*3010_*3011del)
c.*2678_*2679del (n.*2678_*2679del)
c.*5214_*5215del (n.*5214_*5215del)
c.*2633_*2634del (n.*2633_*2634del)
c.4295_4296del (p.Tyr1432LeufsTer3)
n.8122_8123del
c.4661_4662del (p.Tyr1554LeufsTer3)
c.3938_3939del (p.Tyr1313LeufsTer3)
c.2489_2490del (p.Tyr830LeufsTer3)
 ClinVar dbSNP
2g.165386886C>ACA349036520SCN2Ac.4692C>A (p.Tyr1564Ter)
c.*3011C>A (n.*3011C>A)
c.*2679C>A (n.*2679C>A)
c.*5215C>A (n.*5215C>A)
c.*2634C>A (n.*2634C>A)
c.4296C>A (p.Tyr1432Ter)
n.8123C>A
c.4662C>A (p.Tyr1554Ter)
c.3939C>A (p.Tyr1313Ter)
c.2490C>A (p.Tyr830Ter)
2g.165386886C>GCA349036522SCN2Ac.4692C>G (p.Tyr1564Ter)
c.*3011C>G (n.*3011C>G)
c.*2679C>G (n.*2679C>G)
c.*5215C>G (n.*5215C>G)
c.*2634C>G (n.*2634C>G)
c.4296C>G (p.Tyr1432Ter)
n.8123C>G
c.4662C>G (p.Tyr1554Ter)
c.3939C>G (p.Tyr1313Ter)
c.2490C>G (p.Tyr830Ter)
2g.165386886C>TCA429972366SCN2Ac.4692C>T (p.Tyr1564=)
c.*3011C>T (n.*3011C>T)
c.*2679C>T (n.*2679C>T)
c.*5215C>T (n.*5215C>T)
c.*2634C>T (n.*2634C>T)
c.4296C>T (p.Tyr1432=)
n.8123C>T
c.4662C>T (p.Tyr1554=)
c.3939C>T (p.Tyr1313=)
c.2490C>T (p.Tyr830=)
2g.165386887T>ACA349036526SCN2Ac.4693T>A (p.Trp1565Arg)
c.*3012T>A (n.*3012T>A)
c.*2680T>A (n.*2680T>A)
c.*5216T>A (n.*5216T>A)
c.*2635T>A (n.*2635T>A)
c.4297T>A (p.Trp1433Arg)
n.8124T>A
c.4663T>A (p.Trp1555Arg)
c.3940T>A (p.Trp1314Arg)
c.2491T>A (p.Trp831Arg)
 ClinVar dbSNP gnomAD v4
2g.165386887T>CCA349036523SCN2Ac.4693T>C (p.Trp1565Arg)
c.*3012T>C (n.*3012T>C)
c.*2680T>C (n.*2680T>C)
c.*5216T>C (n.*5216T>C)
c.*2635T>C (n.*2635T>C)
c.4297T>C (p.Trp1433Arg)
n.8124T>C
c.4663T>C (p.Trp1555Arg)
c.3940T>C (p.Trp1314Arg)
c.2491T>C (p.Trp831Arg)
 gnomAD v4
2g.165386887T>GCA349036524SCN2Ac.4693T>G (p.Trp1565Gly)
c.*3012T>G (n.*3012T>G)
c.*2680T>G (n.*2680T>G)
c.*5216T>G (n.*5216T>G)
c.*2635T>G (n.*2635T>G)
c.4297T>G (p.Trp1433Gly)
n.8124T>G
c.4663T>G (p.Trp1555Gly)
c.3940T>G (p.Trp1314Gly)
c.2491T>G (p.Trp831Gly)
2g.165386887T=CA1304563791SCN2Ac.4693T= (p.Trp1565=)
c.*3012T= (n.*3012T=)
c.*2680T= (n.*2680T=)
c.*5216T= (n.*5216T=)
c.*2635T= (n.*2635T=)
c.4297T= (p.Trp1433=)
n.8124T=
c.4663T= (p.Trp1555=)
c.3940T= (p.Trp1314=)
c.2491T= (p.Trp831=)
2g.165386888G>ACA349036528SCN2Ac.4694G>A (p.Trp1565Ter)
c.*3013G>A (n.*3013G>A)
c.*2681G>A (n.*2681G>A)
c.*5217G>A (n.*5217G>A)
c.*2636G>A (n.*2636G>A)
c.4298G>A (p.Trp1433Ter)
n.8125G>A
c.4664G>A (p.Trp1555Ter)
c.3941G>A (p.Trp1314Ter)
c.2492G>A (p.Trp831Ter)
 dbSNP
2g.165386888G>CCA349036530SCN2Ac.4694G>C (p.Trp1565Ser)
c.*3013G>C (n.*3013G>C)
c.*2681G>C (n.*2681G>C)
c.*5217G>C (n.*5217G>C)
c.*2636G>C (n.*2636G>C)
c.4298G>C (p.Trp1433Ser)
n.8125G>C
c.4664G>C (p.Trp1555Ser)
c.3941G>C (p.Trp1314Ser)
c.2492G>C (p.Trp831Ser)
2g.165386888G=CA1304563792SCN2Ac.4694G= (p.Trp1565=)
c.*3013G= (n.*3013G=)
c.*2681G= (n.*2681G=)
c.*5217G= (n.*5217G=)
c.*2636G= (n.*2636G=)
c.4298G= (p.Trp1433=)
n.8125G=
c.4664G= (p.Trp1555=)
c.3941G= (p.Trp1314=)
c.2492G= (p.Trp831=)
2g.165386888G>TCA349036531SCN2Ac.4694G>T (p.Trp1565Leu)
c.*3013G>T (n.*3013G>T)
c.*2681G>T (n.*2681G>T)
c.*5217G>T (n.*5217G>T)
c.*2636G>T (n.*2636G>T)
c.4298G>T (p.Trp1433Leu)
n.8125G>T
c.4664G>T (p.Trp1555Leu)
c.3941G>T (p.Trp1314Leu)
c.2492G>T (p.Trp831Leu)
 COSMIC COSMIC
2g.165386889G>ACA349036532SCN2Ac.4695G>A (p.Trp1565Ter)
c.*3014G>A (n.*3014G>A)
c.*2682G>A (n.*2682G>A)
c.*5218G>A (n.*5218G>A)
c.*2637G>A (n.*2637G>A)
c.4299G>A (p.Trp1433Ter)
n.8126G>A
c.4665G>A (p.Trp1555Ter)
c.3942G>A (p.Trp1314Ter)
c.2493G>A (p.Trp831Ter)
 dbSNP
2g.165386889G>CCA349036534SCN2Ac.4695G>C (p.Trp1565Cys)
c.*3014G>C (n.*3014G>C)
c.*2682G>C (n.*2682G>C)
c.*5218G>C (n.*5218G>C)
c.*2637G>C (n.*2637G>C)
c.4299G>C (p.Trp1433Cys)
n.8126G>C
c.4665G>C (p.Trp1555Cys)
c.3942G>C (p.Trp1314Cys)
c.2493G>C (p.Trp831Cys)
2g.165386889G=CA1304563793SCN2Ac.4695G= (p.Trp1565=)
c.*3014G= (n.*3014G=)
c.*2682G= (n.*2682G=)
c.*5218G= (n.*5218G=)
c.*2637G= (n.*2637G=)
c.4299G= (p.Trp1433=)
n.8126G=
c.4665G= (p.Trp1555=)
c.3942G= (p.Trp1314=)
c.2493G= (p.Trp831=)
2g.165386889G>TCA349036535SCN2Ac.4695G>T (p.Trp1565Cys)
c.*3014G>T (n.*3014G>T)
c.*2682G>T (n.*2682G>T)
c.*5218G>T (n.*5218G>T)
c.*2637G>T (n.*2637G>T)
c.4299G>T (p.Trp1433Cys)
n.8126G>T
c.4665G>T (p.Trp1555Cys)
c.3942G>T (p.Trp1314Cys)
c.2493G>T (p.Trp831Cys)
2g.165386890A=CA1304563794SCN2Ac.4696A= (p.Ile1566=)
c.*3015A= (n.*3015A=)
c.*2683A= (n.*2683A=)
c.*5219A= (n.*5219A=)
c.*2638A= (n.*2638A=)
c.4300A= (p.Ile1434=)
n.8127A=
c.4666A= (p.Ile1556=)
c.3943A= (p.Ile1315=)
c.2494A= (p.Ile832=)
2g.165386890A>CCA349036537SCN2Ac.4696A>C (p.Ile1566Leu)
c.*3015A>C (n.*3015A>C)
c.*2683A>C (n.*2683A>C)
c.*5219A>C (n.*5219A>C)
c.*2638A>C (n.*2638A>C)
c.4300A>C (p.Ile1434Leu)
n.8127A>C
c.4666A>C (p.Ile1556Leu)
c.3943A>C (p.Ile1315Leu)
c.2494A>C (p.Ile832Leu)
2g.165386890A>GCA349036539SCN2Ac.4696A>G (p.Ile1566Val)
c.*3015A>G (n.*3015A>G)
c.*2683A>G (n.*2683A>G)
c.*5219A>G (n.*5219A>G)
c.*2638A>G (n.*2638A>G)
c.4300A>G (p.Ile1434Val)
n.8127A>G
c.4666A>G (p.Ile1556Val)
c.3943A>G (p.Ile1315Val)
c.2494A>G (p.Ile832Val)
2g.165386890A>TCA349036540SCN2Ac.4696A>T (p.Ile1566Phe)
c.*3015A>T (n.*3015A>T)
c.*2683A>T (n.*2683A>T)
c.*5219A>T (n.*5219A>T)
c.*2638A>T (n.*2638A>T)
c.4300A>T (p.Ile1434Phe)
n.8127A>T
c.4666A>T (p.Ile1556Phe)
c.3943A>T (p.Ile1315Phe)
c.2494A>T (p.Ile832Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.165386891T>ACA349036542SCN2Ac.4697T>A (p.Ile1566Asn)
c.*3016T>A (n.*3016T>A)
c.*2684T>A (n.*2684T>A)
c.*5220T>A (n.*5220T>A)
c.*2639T>A (n.*2639T>A)
c.4301T>A (p.Ile1434Asn)
n.8128T>A
c.4667T>A (p.Ile1556Asn)
c.3944T>A (p.Ile1315Asn)
c.2495T>A (p.Ile832Asn)
2g.165386891T>CCA349036544SCN2Ac.4697T>C (p.Ile1566Thr)
c.*3016T>C (n.*3016T>C)
c.*2684T>C (n.*2684T>C)
c.*5220T>C (n.*5220T>C)
c.*2639T>C (n.*2639T>C)
c.4301T>C (p.Ile1434Thr)
n.8128T>C
c.4667T>C (p.Ile1556Thr)
c.3944T>C (p.Ile1315Thr)
c.2495T>C (p.Ile832Thr)
2g.165386891T>GCA349036545SCN2Ac.4697T>G (p.Ile1566Ser)
c.*3016T>G (n.*3016T>G)
c.*2684T>G (n.*2684T>G)
c.*5220T>G (n.*5220T>G)
c.*2639T>G (n.*2639T>G)
c.4301T>G (p.Ile1434Ser)
n.8128T>G
c.4667T>G (p.Ile1556Ser)
c.3944T>G (p.Ile1315Ser)
c.2495T>G (p.Ile832Ser)
2g.165386892T>ACA429972380SCN2Ac.4698T>A (p.Ile1566=)
c.*3017T>A (n.*3017T>A)
c.*2685T>A (n.*2685T>A)
c.*5221T>A (n.*5221T>A)
c.*2640T>A (n.*2640T>A)
c.4302T>A (p.Ile1434=)
n.8129T>A
c.4668T>A (p.Ile1556=)
c.3945T>A (p.Ile1315=)
c.2496T>A (p.Ile832=)
2g.165386892T>CCA429972377SCN2Ac.4698T>C (p.Ile1566=)
c.*3017T>C (n.*3017T>C)
c.*2685T>C (n.*2685T>C)
c.*5221T>C (n.*5221T>C)
c.*2640T>C (n.*2640T>C)
c.4302T>C (p.Ile1434=)
n.8129T>C
c.4668T>C (p.Ile1556=)
c.3945T>C (p.Ile1315=)
c.2496T>C (p.Ile832=)
2g.165386892T>GCA349036547SCN2Ac.4698T>G (p.Ile1566Met)
c.*3017T>G (n.*3017T>G)
c.*2685T>G (n.*2685T>G)
c.*5221T>G (n.*5221T>G)
c.*2640T>G (n.*2640T>G)
c.4302T>G (p.Ile1434Met)
n.8129T>G
c.4668T>G (p.Ile1556Met)
c.3945T>G (p.Ile1315Met)
c.2496T>G (p.Ile832Met)
2g.165386893A>CCA349036552SCN2Ac.4699A>C (p.Asn1567His)
c.*3018A>C (n.*3018A>C)
c.*2686A>C (n.*2686A>C)
c.*5222A>C (n.*5222A>C)
c.*2641A>C (n.*2641A>C)
c.4303A>C (p.Asn1435His)
n.8130A>C
c.4669A>C (p.Asn1557His)
c.3946A>C (p.Asn1316His)
c.2497A>C (p.Asn833His)
2g.165386893A>GCA349036549SCN2Ac.4699A>G (p.Asn1567Asp)
c.*3018A>G (n.*3018A>G)
c.*2686A>G (n.*2686A>G)
c.*5222A>G (n.*5222A>G)
c.*2641A>G (n.*2641A>G)
c.4303A>G (p.Asn1435Asp)
n.8130A>G
c.4669A>G (p.Asn1557Asp)
c.3946A>G (p.Asn1316Asp)
c.2497A>G (p.Asn833Asp)
 COSMIC COSMIC
2g.165386893A>TCA349036550SCN2Ac.4699A>T (p.Asn1567Tyr)
c.*3018A>T (n.*3018A>T)
c.*2686A>T (n.*2686A>T)
c.*5222A>T (n.*5222A>T)
c.*2641A>T (n.*2641A>T)
c.4303A>T (p.Asn1435Tyr)
n.8130A>T
c.4669A>T (p.Asn1557Tyr)
c.3946A>T (p.Asn1316Tyr)
c.2497A>T (p.Asn833Tyr)
2g.165386894A>CCA349036553SCN2Ac.4700A>C (p.Asn1567Thr)
c.*3019A>C (n.*3019A>C)
c.*2687A>C (n.*2687A>C)
c.*5223A>C (n.*5223A>C)
c.*2642A>C (n.*2642A>C)
c.4304A>C (p.Asn1435Thr)
n.8131A>C
c.4670A>C (p.Asn1557Thr)
c.3947A>C (p.Asn1316Thr)
c.2498A>C (p.Asn833Thr)
2g.165386894A>GCA349036554SCN2Ac.4700A>G (p.Asn1567Ser)
c.*3019A>G (n.*3019A>G)
c.*2687A>G (n.*2687A>G)
c.*5223A>G (n.*5223A>G)
c.*2642A>G (n.*2642A>G)
c.4304A>G (p.Asn1435Ser)
n.8131A>G
c.4670A>G (p.Asn1557Ser)
c.3947A>G (p.Asn1316Ser)
c.2498A>G (p.Asn833Ser)
2g.165386894A>TCA349036556SCN2Ac.4700A>T (p.Asn1567Ile)
c.*3019A>T (n.*3019A>T)
c.*2687A>T (n.*2687A>T)
c.*5223A>T (n.*5223A>T)
c.*2642A>T (n.*2642A>T)
c.4304A>T (p.Asn1435Ile)
n.8131A>T
c.4670A>T (p.Asn1557Ile)
c.3947A>T (p.Asn1316Ile)
c.2498A>T (p.Asn833Ile)
2g.165386895T>ACA318000SCN2Ac.4701T>A (p.Asn1567Lys)
c.*3020T>A (n.*3020T>A)
c.*2688T>A (n.*2688T>A)
c.*5224T>A (n.*5224T>A)
c.*2643T>A (n.*2643T>A)
c.4305T>A (p.Asn1435Lys)
n.8132T>A
c.4671T>A (p.Asn1557Lys)
c.3948T>A (p.Asn1316Lys)
c.2499T>A (p.Asn833Lys)
 ClinVar dbSNP
2g.165386895T>CCA429972387SCN2Ac.4701T>C (p.Asn1567=)
c.*3020T>C (n.*3020T>C)
c.*2688T>C (n.*2688T>C)
c.*5224T>C (n.*5224T>C)
c.*2643T>C (n.*2643T>C)
c.4305T>C (p.Asn1435=)
n.8132T>C
c.4671T>C (p.Asn1557=)
c.3948T>C (p.Asn1316=)
c.2499T>C (p.Asn833=)
 gnomAD v4
2g.165386895T>GCA349036558SCN2Ac.4701T>G (p.Asn1567Lys)
c.*3020T>G (n.*3020T>G)
c.*2688T>G (n.*2688T>G)
c.*5224T>G (n.*5224T>G)
c.*2643T>G (n.*2643T>G)
c.4305T>G (p.Asn1435Lys)
n.8132T>G
c.4671T>G (p.Asn1557Lys)
c.3948T>G (p.Asn1316Lys)
c.2499T>G (p.Asn833Lys)
2g.165386895T=CA1304563795SCN2Ac.4701T= (p.Asn1567=)
c.*3020T= (n.*3020T=)
c.*2688T= (n.*2688T=)
c.*5224T= (n.*5224T=)
c.*2643T= (n.*2643T=)
c.4305T= (p.Asn1435=)
n.8132T=
c.4671T= (p.Asn1557=)
c.3948T= (p.Asn1316=)
c.2499T= (p.Asn833=)
2g.165386896C>ACA349036559SCN2Ac.4702C>A (p.Leu1568Met)
c.*3021C>A (n.*3021C>A)
c.*2689C>A (n.*2689C>A)
c.*5225C>A (n.*5225C>A)
c.*2644C>A (n.*2644C>A)
c.4306C>A (p.Leu1436Met)
n.8133C>A
c.4672C>A (p.Leu1558Met)
c.3949C>A (p.Leu1317Met)
c.2500C>A (p.Leu834Met)
 gnomAD v4
2g.165386896C=CA1304563796SCN2Ac.4702C= (p.Leu1568=)
c.*3021C= (n.*3021C=)
c.*2689C= (n.*2689C=)
c.*5225C= (n.*5225C=)
c.*2644C= (n.*2644C=)
c.4306C= (p.Leu1436=)
n.8133C=
c.4672C= (p.Leu1558=)
c.3949C= (p.Leu1317=)
c.2500C= (p.Leu834=)
2g.165386896C>GCA349036561SCN2Ac.4702C>G (p.Leu1568Val)
c.*3021C>G (n.*3021C>G)
c.*2689C>G (n.*2689C>G)
c.*5225C>G (n.*5225C>G)
c.*2644C>G (n.*2644C>G)
c.4306C>G (p.Leu1436Val)
n.8133C>G
c.4672C>G (p.Leu1558Val)
c.3949C>G (p.Leu1317Val)
c.2500C>G (p.Leu834Val)
 dbSNP gnomAD v2 gnomAD v4
2g.165386896C>TCA429972389SCN2Ac.4702C>T (p.Leu1568=)
c.*3021C>T (n.*3021C>T)
c.*2689C>T (n.*2689C>T)
c.*5225C>T (n.*5225C>T)
c.*2644C>T (n.*2644C>T)
c.4306C>T (p.Leu1436=)
n.8133C>T
c.4672C>T (p.Leu1558=)
c.3949C>T (p.Leu1317=)
c.2500C>T (p.Leu834=)
 dbSNP
2g.165386897T>ACA349036563SCN2Ac.4703T>A (p.Leu1568Gln)
c.*3022T>A (n.*3022T>A)
c.*2690T>A (n.*2690T>A)
c.*5226T>A (n.*5226T>A)
c.*2645T>A (n.*2645T>A)
c.4307T>A (p.Leu1436Gln)
n.8134T>A
c.4673T>A (p.Leu1558Gln)
c.3950T>A (p.Leu1317Gln)
c.2501T>A (p.Leu834Gln)
2g.165386897T>CCA349036564SCN2Ac.4703T>C (p.Leu1568Pro)
c.*3022T>C (n.*3022T>C)
c.*2690T>C (n.*2690T>C)
c.*5226T>C (n.*5226T>C)
c.*2645T>C (n.*2645T>C)
c.4307T>C (p.Leu1436Pro)
n.8134T>C
c.4673T>C (p.Leu1558Pro)
c.3950T>C (p.Leu1317Pro)
c.2501T>C (p.Leu834Pro)
2g.165386897T>GCA349036566SCN2Ac.4703T>G (p.Leu1568Arg)
c.*3022T>G (n.*3022T>G)
c.*2690T>G (n.*2690T>G)
c.*5226T>G (n.*5226T>G)
c.*2645T>G (n.*2645T>G)
c.4307T>G (p.Leu1436Arg)
n.8134T>G
c.4673T>G (p.Leu1558Arg)
c.3950T>G (p.Leu1317Arg)
c.2501T>G (p.Leu834Arg)

Number of alleles fetched