Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165386748C>ACA349036147SCN2Ac.4554C>A (p.Asn1518Lys)
c.*2873C>A (n.*2873C>A)
c.*2541C>A (n.*2541C>A)
c.*5077C>A (n.*5077C>A)
c.*2496C>A (n.*2496C>A)
c.4158C>A (p.Asn1386Lys)
n.7985C>A
c.4524C>A (p.Asn1508Lys)
c.3801C>A (p.Asn1267Lys)
c.2352C>A (p.Asn784Lys)
2g.165386748C>GCA349036146SCN2Ac.4554C>G (p.Asn1518Lys)
c.*2873C>G (n.*2873C>G)
c.*2541C>G (n.*2541C>G)
c.*5077C>G (n.*5077C>G)
c.*2496C>G (n.*2496C>G)
c.4158C>G (p.Asn1386Lys)
n.7985C>G
c.4524C>G (p.Asn1508Lys)
c.3801C>G (p.Asn1267Lys)
c.2352C>G (p.Asn784Lys)
2g.165386748C>TCA429972408SCN2Ac.4554C>T (p.Asn1518=)
c.*2873C>T (n.*2873C>T)
c.*2541C>T (n.*2541C>T)
c.*5077C>T (n.*5077C>T)
c.*2496C>T (n.*2496C>T)
c.4158C>T (p.Asn1386=)
n.7985C>T
c.4524C>T (p.Asn1508=)
c.3801C>T (p.Asn1267=)
c.2352C>T (p.Asn784=)
2g.165386749A>CCA349036148SCN2Ac.4555A>C (p.Lys1519Gln)
c.*2874A>C (n.*2874A>C)
c.*2542A>C (n.*2542A>C)
c.*5078A>C (n.*5078A>C)
c.*2497A>C (n.*2497A>C)
c.4159A>C (p.Lys1387Gln)
n.7986A>C
c.4525A>C (p.Lys1509Gln)
c.3802A>C (p.Lys1268Gln)
c.2353A>C (p.Lys785Gln)
2g.165386749A>GCA349036149SCN2Ac.4555A>G (p.Lys1519Glu)
c.*2874A>G (n.*2874A>G)
c.*2542A>G (n.*2542A>G)
c.*5078A>G (n.*5078A>G)
c.*2497A>G (n.*2497A>G)
c.4159A>G (p.Lys1387Glu)
n.7986A>G
c.4525A>G (p.Lys1509Glu)
c.3802A>G (p.Lys1268Glu)
c.2353A>G (p.Lys785Glu)
2g.165386749A>TCA349036150SCN2Ac.4555A>T (p.Lys1519Ter)
c.*2874A>T (n.*2874A>T)
c.*2542A>T (n.*2542A>T)
c.*5078A>T (n.*5078A>T)
c.*2497A>T (n.*2497A>T)
c.4159A>T (p.Lys1387Ter)
n.7986A>T
c.4525A>T (p.Lys1509Ter)
c.3802A>T (p.Lys1268Ter)
c.2353A>T (p.Lys785Ter)
2g.165386750A>CCA349036151SCN2Ac.4556A>C (p.Lys1519Thr)
c.*2875A>C (n.*2875A>C)
c.*2543A>C (n.*2543A>C)
c.*5079A>C (n.*5079A>C)
c.*2498A>C (n.*2498A>C)
c.4160A>C (p.Lys1387Thr)
n.7987A>C
c.4526A>C (p.Lys1509Thr)
c.3803A>C (p.Lys1268Thr)
c.2354A>C (p.Lys785Thr)
2g.165386750A>GCA349036152SCN2Ac.4556A>G (p.Lys1519Arg)
c.*2875A>G (n.*2875A>G)
c.*2543A>G (n.*2543A>G)
c.*5079A>G (n.*5079A>G)
c.*2498A>G (n.*2498A>G)
c.4160A>G (p.Lys1387Arg)
n.7987A>G
c.4526A>G (p.Lys1509Arg)
c.3803A>G (p.Lys1268Arg)
c.2354A>G (p.Lys785Arg)
2g.165386750A>TCA349036153SCN2Ac.4556A>T (p.Lys1519Ile)
c.*2875A>T (n.*2875A>T)
c.*2543A>T (n.*2543A>T)
c.*5079A>T (n.*5079A>T)
c.*2498A>T (n.*2498A>T)
c.4160A>T (p.Lys1387Ile)
n.7987A>T
c.4526A>T (p.Lys1509Ile)
c.3803A>T (p.Lys1268Ile)
c.2354A>T (p.Lys785Ile)
2g.165386751A=CA1304563734SCN2Ac.4557A= (p.Lys1519=)
c.*2876A= (n.*2876A=)
c.*2544A= (n.*2544A=)
c.*5080A= (n.*5080A=)
c.*2499A= (n.*2499A=)
c.4161A= (p.Lys1387=)
n.7988A=
c.4527A= (p.Lys1509=)
c.3804A= (p.Lys1268=)
c.2355A= (p.Lys785=)
2g.165386751A>CCA349036154SCN2Ac.4557A>C (p.Lys1519Asn)
c.*2876A>C (n.*2876A>C)
c.*2544A>C (n.*2544A>C)
c.*5080A>C (n.*5080A>C)
c.*2499A>C (n.*2499A>C)
c.4161A>C (p.Lys1387Asn)
n.7988A>C
c.4527A>C (p.Lys1509Asn)
c.3804A>C (p.Lys1268Asn)
c.2355A>C (p.Lys785Asn)
2g.165386751A>GCA429972410SCN2Ac.4557A>G (p.Lys1519=)
c.*2876A>G (n.*2876A>G)
c.*2544A>G (n.*2544A>G)
c.*5080A>G (n.*5080A>G)
c.*2499A>G (n.*2499A>G)
c.4161A>G (p.Lys1387=)
n.7988A>G
c.4527A>G (p.Lys1509=)
c.3804A>G (p.Lys1268=)
c.2355A>G (p.Lys785=)
 ClinVar dbSNP gnomAD v4
2g.165386751A>TCA349036155SCN2Ac.4557A>T (p.Lys1519Asn)
c.*2876A>T (n.*2876A>T)
c.*2544A>T (n.*2544A>T)
c.*5080A>T (n.*5080A>T)
c.*2499A>T (n.*2499A>T)
c.4161A>T (p.Lys1387Asn)
n.7988A>T
c.4527A>T (p.Lys1509Asn)
c.3804A>T (p.Lys1268Asn)
c.2355A>T (p.Lys785Asn)
2g.165386752T>ACA349036156SCN2Ac.4558T>A (p.Phe1520Ile)
c.*2877T>A (n.*2877T>A)
c.*2545T>A (n.*2545T>A)
c.*5081T>A (n.*5081T>A)
c.*2500T>A (n.*2500T>A)
c.4162T>A (p.Phe1388Ile)
n.7989T>A
c.4528T>A (p.Phe1510Ile)
c.3805T>A (p.Phe1269Ile)
c.2356T>A (p.Phe786Ile)
2g.165386752T>CCA349036157SCN2Ac.4558T>C (p.Phe1520Leu)
c.*2877T>C (n.*2877T>C)
c.*2545T>C (n.*2545T>C)
c.*5081T>C (n.*5081T>C)
c.*2500T>C (n.*2500T>C)
c.4162T>C (p.Phe1388Leu)
n.7989T>C
c.4528T>C (p.Phe1510Leu)
c.3805T>C (p.Phe1269Leu)
c.2356T>C (p.Phe786Leu)
2g.165386752T>GCA59750817SCN2Ac.4558T>G (p.Phe1520Val)
c.*2877T>G (n.*2877T>G)
c.*2545T>G (n.*2545T>G)
c.*5081T>G (n.*5081T>G)
c.*2500T>G (n.*2500T>G)
c.4162T>G (p.Phe1388Val)
n.7989T>G
c.4528T>G (p.Phe1510Val)
c.3805T>G (p.Phe1269Val)
c.2356T>G (p.Phe786Val)
 dbSNP
2g.165386752T=CA1304563735SCN2Ac.4558T= (p.Phe1520=)
c.*2877T= (n.*2877T=)
c.*2545T= (n.*2545T=)
c.*5081T= (n.*5081T=)
c.*2500T= (n.*2500T=)
c.4162T= (p.Phe1388=)
n.7989T=
c.4528T= (p.Phe1510=)
c.3805T= (p.Phe1269=)
c.2356T= (p.Phe786=)
2g.165386753T>ACA349036158SCN2Ac.4559T>A (p.Phe1520Tyr)
c.*2878T>A (n.*2878T>A)
c.*2546T>A (n.*2546T>A)
c.*5082T>A (n.*5082T>A)
c.*2501T>A (n.*2501T>A)
c.4163T>A (p.Phe1388Tyr)
n.7990T>A
c.4529T>A (p.Phe1510Tyr)
c.3806T>A (p.Phe1269Tyr)
c.2357T>A (p.Phe786Tyr)
2g.165386753T>CCA349036159SCN2Ac.4559T>C (p.Phe1520Ser)
c.*2878T>C (n.*2878T>C)
c.*2546T>C (n.*2546T>C)
c.*5082T>C (n.*5082T>C)
c.*2501T>C (n.*2501T>C)
c.4163T>C (p.Phe1388Ser)
n.7990T>C
c.4529T>C (p.Phe1510Ser)
c.3806T>C (p.Phe1269Ser)
c.2357T>C (p.Phe786Ser)
2g.165386753T>GCA349036160SCN2Ac.4559T>G (p.Phe1520Cys)
c.*2878T>G (n.*2878T>G)
c.*2546T>G (n.*2546T>G)
c.*5082T>G (n.*5082T>G)
c.*2501T>G (n.*2501T>G)
c.4163T>G (p.Phe1388Cys)
n.7990T>G
c.4529T>G (p.Phe1510Cys)
c.3806T>G (p.Phe1269Cys)
c.2357T>G (p.Phe786Cys)
2g.165386754C>ACA349036162SCN2Ac.4560C>A (p.Phe1520Leu)
c.*2879C>A (n.*2879C>A)
c.*2547C>A (n.*2547C>A)
c.*5083C>A (n.*5083C>A)
c.*2502C>A (n.*2502C>A)
c.4164C>A (p.Phe1388Leu)
n.7991C>A
c.4530C>A (p.Phe1510Leu)
c.3807C>A (p.Phe1269Leu)
c.2358C>A (p.Phe786Leu)
2g.165386754C>GCA349036161SCN2Ac.4560C>G (p.Phe1520Leu)
c.*2879C>G (n.*2879C>G)
c.*2547C>G (n.*2547C>G)
c.*5083C>G (n.*5083C>G)
c.*2502C>G (n.*2502C>G)
c.4164C>G (p.Phe1388Leu)
n.7991C>G
c.4530C>G (p.Phe1510Leu)
c.3807C>G (p.Phe1269Leu)
c.2358C>G (p.Phe786Leu)
2g.165386754C>TCA429972414SCN2Ac.4560C>T (p.Phe1520=)
c.*2879C>T (n.*2879C>T)
c.*2547C>T (n.*2547C>T)
c.*5083C>T (n.*5083C>T)
c.*2502C>T (n.*2502C>T)
c.4164C>T (p.Phe1388=)
n.7991C>T
c.4530C>T (p.Phe1510=)
c.3807C>T (p.Phe1269=)
c.2358C>T (p.Phe786=)
2g.165386755C>ACA349036163SCN2Ac.4561C>A (p.Gln1521Lys)
c.*2880C>A (n.*2880C>A)
c.*2548C>A (n.*2548C>A)
c.*5084C>A (n.*5084C>A)
c.*2503C>A (n.*2503C>A)
c.4165C>A (p.Gln1389Lys)
n.7992C>A
c.4531C>A (p.Gln1511Lys)
c.3808C>A (p.Gln1270Lys)
c.2359C>A (p.Gln787Lys)
2g.165386755C=CA1304563736SCN2Ac.4561C= (p.Gln1521=)
c.*2880C= (n.*2880C=)
c.*2548C= (n.*2548C=)
c.*5084C= (n.*5084C=)
c.*2503C= (n.*2503C=)
c.4165C= (p.Gln1389=)
n.7992C=
c.4531C= (p.Gln1511=)
c.3808C= (p.Gln1270=)
c.2359C= (p.Gln787=)
2g.165386755C>GCA349036165SCN2Ac.4561C>G (p.Gln1521Glu)
c.*2880C>G (n.*2880C>G)
c.*2548C>G (n.*2548C>G)
c.*5084C>G (n.*5084C>G)
c.*2503C>G (n.*2503C>G)
c.4165C>G (p.Gln1389Glu)
n.7992C>G
c.4531C>G (p.Gln1511Glu)
c.3808C>G (p.Gln1270Glu)
c.2359C>G (p.Gln787Glu)
2g.165386755C>TCA349036164SCN2Ac.4561C>T (p.Gln1521Ter)
c.*2880C>T (n.*2880C>T)
c.*2548C>T (n.*2548C>T)
c.*5084C>T (n.*5084C>T)
c.*2503C>T (n.*2503C>T)
c.4165C>T (p.Gln1389Ter)
n.7992C>T
c.4531C>T (p.Gln1511Ter)
c.3808C>T (p.Gln1270Ter)
c.2359C>T (p.Gln787Ter)
 dbSNP
2g.165386756A>CCA349036166SCN2Ac.4562A>C (p.Gln1521Pro)
c.*2881A>C (n.*2881A>C)
c.*2549A>C (n.*2549A>C)
c.*5085A>C (n.*5085A>C)
c.*2504A>C (n.*2504A>C)
c.4166A>C (p.Gln1389Pro)
n.7993A>C
c.4532A>C (p.Gln1511Pro)
c.3809A>C (p.Gln1270Pro)
c.2360A>C (p.Gln787Pro)
2g.165386756A>GCA349036168SCN2Ac.4562A>G (p.Gln1521Arg)
c.*2881A>G (n.*2881A>G)
c.*2549A>G (n.*2549A>G)
c.*5085A>G (n.*5085A>G)
c.*2504A>G (n.*2504A>G)
c.4166A>G (p.Gln1389Arg)
n.7993A>G
c.4532A>G (p.Gln1511Arg)
c.3809A>G (p.Gln1270Arg)
c.2360A>G (p.Gln787Arg)
2g.165386756A>TCA349036167SCN2Ac.4562A>T (p.Gln1521Leu)
c.*2881A>T (n.*2881A>T)
c.*2549A>T (n.*2549A>T)
c.*5085A>T (n.*5085A>T)
c.*2504A>T (n.*2504A>T)
c.4166A>T (p.Gln1389Leu)
n.7993A>T
c.4532A>T (p.Gln1511Leu)
c.3809A>T (p.Gln1270Leu)
c.2360A>T (p.Gln787Leu)
2g.165386757A>CCA349036169SCN2Ac.4563A>C (p.Gln1521His)
c.*2882A>C (n.*2882A>C)
c.*2550A>C (n.*2550A>C)
c.*5086A>C (n.*5086A>C)
c.*2505A>C (n.*2505A>C)
c.4167A>C (p.Gln1389His)
n.7994A>C
c.4533A>C (p.Gln1511His)
c.3810A>C (p.Gln1270His)
c.2361A>C (p.Gln787His)
2g.165386757A>GCA429972418SCN2Ac.4563A>G (p.Gln1521=)
c.*2882A>G (n.*2882A>G)
c.*2550A>G (n.*2550A>G)
c.*5086A>G (n.*5086A>G)
c.*2505A>G (n.*2505A>G)
c.4167A>G (p.Gln1389=)
n.7994A>G
c.4533A>G (p.Gln1511=)
c.3810A>G (p.Gln1270=)
c.2361A>G (p.Gln787=)
2g.165386757A>TCA349036170SCN2Ac.4563A>T (p.Gln1521His)
c.*2882A>T (n.*2882A>T)
c.*2550A>T (n.*2550A>T)
c.*5086A>T (n.*5086A>T)
c.*2505A>T (n.*2505A>T)
c.4167A>T (p.Gln1389His)
n.7994A>T
c.4533A>T (p.Gln1511His)
c.3810A>T (p.Gln1270His)
c.2361A>T (p.Gln787His)
2g.165386758G>ACA349036171SCN2Ac.4564G>A (p.Gly1522Arg)
c.*2883G>A (n.*2883G>A)
c.*2551G>A (n.*2551G>A)
c.*5087G>A (n.*5087G>A)
c.*2506G>A (n.*2506G>A)
c.4168G>A (p.Gly1390Arg)
n.7995G>A
c.4534G>A (p.Gly1512Arg)
c.3811G>A (p.Gly1271Arg)
c.2362G>A (p.Gly788Arg)
 COSMIC COSMIC
2g.165386758G>CCA349036172SCN2Ac.4564G>C (p.Gly1522Arg)
c.*2883G>C (n.*2883G>C)
c.*2551G>C (n.*2551G>C)
c.*5087G>C (n.*5087G>C)
c.*2506G>C (n.*2506G>C)
c.4168G>C (p.Gly1390Arg)
n.7995G>C
c.4534G>C (p.Gly1512Arg)
c.3811G>C (p.Gly1271Arg)
c.2362G>C (p.Gly788Arg)
2g.165386758G=CA1304563737SCN2Ac.4564G= (p.Gly1522=)
c.*2883G= (n.*2883G=)
c.*2551G= (n.*2551G=)
c.*5087G= (n.*5087G=)
c.*2506G= (n.*2506G=)
c.4168G= (p.Gly1390=)
n.7995G=
c.4534G= (p.Gly1512=)
c.3811G= (p.Gly1271=)
c.2362G= (p.Gly788=)
2g.165386758G>TCA349036173SCN2Ac.4564G>T (p.Gly1522Ter)
c.*2883G>T (n.*2883G>T)
c.*2551G>T (n.*2551G>T)
c.*5087G>T (n.*5087G>T)
c.*2506G>T (n.*2506G>T)
c.4168G>T (p.Gly1390Ter)
n.7995G>T
c.4534G>T (p.Gly1512Ter)
c.3811G>T (p.Gly1271Ter)
c.2362G>T (p.Gly788Ter)
 dbSNP gnomAD v4
2g.165386758_165386759delinsAACA645527248SCN2Ac.4564_4565delinsAA (p.Gly1522Lys)
c.*2883_*2884delinsAA (n.*2883_*2884delinsAA)
c.*2551_*2552delinsAA (n.*2551_*2552delinsAA)
c.*5087_*5088delinsAA (n.*5087_*5088delinsAA)
c.*2506_*2507delinsAA (n.*2506_*2507delinsAA)
c.4168_4169delinsAA (p.Gly1390Lys)
n.7995_7996delinsAA
c.4534_4535delinsAA (p.Gly1512Lys)
c.3811_3812delinsAA (p.Gly1271Lys)
c.2362_2363delinsAA (p.Gly788Lys)
 COSMIC COSMIC
2g.165386759G>ACA349036174SCN2Ac.4565G>A (p.Gly1522Glu)
c.*2884G>A (n.*2884G>A)
c.*2552G>A (n.*2552G>A)
c.*5088G>A (n.*5088G>A)
c.*2507G>A (n.*2507G>A)
c.4169G>A (p.Gly1390Glu)
n.7996G>A
c.4535G>A (p.Gly1512Glu)
c.3812G>A (p.Gly1271Glu)
c.2363G>A (p.Gly788Glu)
 gnomAD v4
2g.165386759G>CCA231489SCN2Ac.4565G>C (p.Gly1522Ala)
c.*2884G>C (n.*2884G>C)
c.*2552G>C (n.*2552G>C)
c.*5088G>C (n.*5088G>C)
c.*2507G>C (n.*2507G>C)
c.4169G>C (p.Gly1390Ala)
n.7996G>C
c.4535G>C (p.Gly1512Ala)
c.3812G>C (p.Gly1271Ala)
c.2363G>C (p.Gly788Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.[165386759G>C;165389450C>G]CA2742038351SCN2Ac.[4565G>C;5644C>G] (p.[Gly1522Ala;Arg1882Gly])
c.[*2884G>C;*3963C>G] (n.[*2884G>C;*3963C>G])
c.[*2552G>C;*3631C>G] (n.[*2552G>C;*3631C>G])
c.[*5088G>C;*6167C>G] (n.[*5088G>C;*6167C>G])
c.[*2507G>C;*3586C>G] (n.[*2507G>C;*3586C>G])
c.[4169G>C;5248C>G] (p.[Gly1390Ala;Arg1750Gly])
n.[7996G>C;9075C>G]
c.[4535G>C;5614C>G] (p.[Gly1512Ala;Arg1872Gly])
c.[3812G>C;4891C>G] (p.[Gly1271Ala;Arg1631Gly])
c.[2363G>C;3442C>G] (p.[Gly788Ala;Arg1148Gly])
2g.165386759G=CA1304563738SCN2Ac.4565G= (p.Gly1522=)
c.*2884G= (n.*2884G=)
c.*2552G= (n.*2552G=)
c.*5088G= (n.*5088G=)
c.*2507G= (n.*2507G=)
c.4169G= (p.Gly1390=)
n.7996G=
c.4535G= (p.Gly1512=)
c.3812G= (p.Gly1271=)
c.2363G= (p.Gly788=)
2g.165386759G>TCA349036175SCN2Ac.4565G>T (p.Gly1522Val)
c.*2884G>T (n.*2884G>T)
c.*2552G>T (n.*2552G>T)
c.*5088G>T (n.*5088G>T)
c.*2507G>T (n.*2507G>T)
c.4169G>T (p.Gly1390Val)
n.7996G>T
c.4535G>T (p.Gly1512Val)
c.3812G>T (p.Gly1271Val)
c.2363G>T (p.Gly788Val)
2g.165386760A=CA1304563739SCN2Ac.4566A= (p.Gly1522=)
c.*2885A= (n.*2885A=)
c.*2553A= (n.*2553A=)
c.*5089A= (n.*5089A=)
c.*2508A= (n.*2508A=)
c.4170A= (p.Gly1390=)
n.7997A=
c.4536A= (p.Gly1512=)
c.3813A= (p.Gly1271=)
c.2364A= (p.Gly788=)
2g.165386760A>CCA429972420SCN2Ac.4566A>C (p.Gly1522=)
c.*2885A>C (n.*2885A>C)
c.*2553A>C (n.*2553A>C)
c.*5089A>C (n.*5089A>C)
c.*2508A>C (n.*2508A>C)
c.4170A>C (p.Gly1390=)
n.7997A>C
c.4536A>C (p.Gly1512=)
c.3813A>C (p.Gly1271=)
c.2364A>C (p.Gly788=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165386760A>GCA429972422SCN2Ac.4566A>G (p.Gly1522=)
c.*2885A>G (n.*2885A>G)
c.*2553A>G (n.*2553A>G)
c.*5089A>G (n.*5089A>G)
c.*2508A>G (n.*2508A>G)
c.4170A>G (p.Gly1390=)
n.7997A>G
c.4536A>G (p.Gly1512=)
c.3813A>G (p.Gly1271=)
c.2364A>G (p.Gly788=)
2g.165386760A>TCA429972421SCN2Ac.4566A>T (p.Gly1522=)
c.*2885A>T (n.*2885A>T)
c.*2553A>T (n.*2553A>T)
c.*5089A>T (n.*5089A>T)
c.*2508A>T (n.*2508A>T)
c.4170A>T (p.Gly1390=)
n.7997A>T
c.4536A>T (p.Gly1512=)
c.3813A>T (p.Gly1271=)
c.2364A>T (p.Gly788=)
2g.165386761A>CCA349036176SCN2Ac.4567A>C (p.Met1523Leu)
c.*2886A>C (n.*2886A>C)
c.*2554A>C (n.*2554A>C)
c.*5090A>C (n.*5090A>C)
c.*2509A>C (n.*2509A>C)
c.4171A>C (p.Met1391Leu)
n.7998A>C
c.4537A>C (p.Met1513Leu)
c.3814A>C (p.Met1272Leu)
c.2365A>C (p.Met789Leu)
2g.165386761A>GCA349036177SCN2Ac.4567A>G (p.Met1523Val)
c.*2886A>G (n.*2886A>G)
c.*2554A>G (n.*2554A>G)
c.*5090A>G (n.*5090A>G)
c.*2509A>G (n.*2509A>G)
c.4171A>G (p.Met1391Val)
n.7998A>G
c.4537A>G (p.Met1513Val)
c.3814A>G (p.Met1272Val)
c.2365A>G (p.Met789Val)
 gnomAD v4
2g.165386761A>TCA349036178SCN2Ac.4567A>T (p.Met1523Leu)
c.*2886A>T (n.*2886A>T)
c.*2554A>T (n.*2554A>T)
c.*5090A>T (n.*5090A>T)
c.*2509A>T (n.*2509A>T)
c.4171A>T (p.Met1391Leu)
n.7998A>T
c.4537A>T (p.Met1513Leu)
c.3814A>T (p.Met1272Leu)
c.2365A>T (p.Met789Leu)
2g.165386762T>ACA1940304SCN2Ac.4568T>A (p.Met1523Lys)
c.*2887T>A (n.*2887T>A)
c.*2555T>A (n.*2555T>A)
c.*5091T>A (n.*5091T>A)
c.*2510T>A (n.*2510T>A)
c.4172T>A (p.Met1391Lys)
n.7999T>A
c.4538T>A (p.Met1513Lys)
c.3815T>A (p.Met1272Lys)
c.2366T>A (p.Met789Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386762T>CCA349036179SCN2Ac.4568T>C (p.Met1523Thr)
c.*2887T>C (n.*2887T>C)
c.*2555T>C (n.*2555T>C)
c.*5091T>C (n.*5091T>C)
c.*2510T>C (n.*2510T>C)
c.4172T>C (p.Met1391Thr)
n.7999T>C
c.4538T>C (p.Met1513Thr)
c.3815T>C (p.Met1272Thr)
c.2366T>C (p.Met789Thr)
2g.165386762T>GCA349036180SCN2Ac.4568T>G (p.Met1523Arg)
c.*2887T>G (n.*2887T>G)
c.*2555T>G (n.*2555T>G)
c.*5091T>G (n.*5091T>G)
c.*2510T>G (n.*2510T>G)
c.4172T>G (p.Met1391Arg)
n.7999T>G
c.4538T>G (p.Met1513Arg)
c.3815T>G (p.Met1272Arg)
c.2366T>G (p.Met789Arg)
2g.165386762T=CA1304563740SCN2Ac.4568T= (p.Met1523=)
c.*2887T= (n.*2887T=)
c.*2555T= (n.*2555T=)
c.*5091T= (n.*5091T=)
c.*2510T= (n.*2510T=)
c.4172T= (p.Met1391=)
n.7999T=
c.4538T= (p.Met1513=)
c.3815T= (p.Met1272=)
c.2366T= (p.Met789=)
2g.165386763G>ACA349036183SCN2Ac.4569G>A (p.Met1523Ile)
c.*2888G>A (n.*2888G>A)
c.*2556G>A (n.*2556G>A)
c.*5092G>A (n.*5092G>A)
c.*2511G>A (n.*2511G>A)
c.4173G>A (p.Met1391Ile)
n.8000G>A
c.4539G>A (p.Met1513Ile)
c.3816G>A (p.Met1272Ile)
c.2367G>A (p.Met789Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.165386763G>CCA349036181SCN2Ac.4569G>C (p.Met1523Ile)
c.*2888G>C (n.*2888G>C)
c.*2556G>C (n.*2556G>C)
c.*5092G>C (n.*5092G>C)
c.*2511G>C (n.*2511G>C)
c.4173G>C (p.Met1391Ile)
n.8000G>C
c.4539G>C (p.Met1513Ile)
c.3816G>C (p.Met1272Ile)
c.2367G>C (p.Met789Ile)
2g.165386763G=CA1304563741SCN2Ac.4569G= (p.Met1523=)
c.*2888G= (n.*2888G=)
c.*2556G= (n.*2556G=)
c.*5092G= (n.*5092G=)
c.*2511G= (n.*2511G=)
c.4173G= (p.Met1391=)
n.8000G=
c.4539G= (p.Met1513=)
c.3816G= (p.Met1272=)
c.2367G= (p.Met789=)
2g.165386763G>TCA349036182SCN2Ac.4569G>T (p.Met1523Ile)
c.*2888G>T (n.*2888G>T)
c.*2556G>T (n.*2556G>T)
c.*5092G>T (n.*5092G>T)
c.*2511G>T (n.*2511G>T)
c.4173G>T (p.Met1391Ile)
n.8000G>T
c.4539G>T (p.Met1513Ile)
c.3816G>T (p.Met1272Ile)
c.2367G>T (p.Met789Ile)
2g.165386764G>ACA349036184SCN2Ac.4570G>A (p.Val1524Ile)
c.*2889G>A (n.*2889G>A)
c.*2557G>A (n.*2557G>A)
c.*5093G>A (n.*5093G>A)
c.*2512G>A (n.*2512G>A)
c.4174G>A (p.Val1392Ile)
n.8001G>A
c.4540G>A (p.Val1514Ile)
c.3817G>A (p.Val1273Ile)
c.2368G>A (p.Val790Ile)
 gnomAD v4
2g.165386764G>CCA349036185SCN2Ac.4570G>C (p.Val1524Leu)
c.*2889G>C (n.*2889G>C)
c.*2557G>C (n.*2557G>C)
c.*5093G>C (n.*5093G>C)
c.*2512G>C (n.*2512G>C)
c.4174G>C (p.Val1392Leu)
n.8001G>C
c.4540G>C (p.Val1514Leu)
c.3817G>C (p.Val1273Leu)
c.2368G>C (p.Val790Leu)
2g.165386764G>TCA349036186SCN2Ac.4570G>T (p.Val1524Phe)
c.*2889G>T (n.*2889G>T)
c.*2557G>T (n.*2557G>T)
c.*5093G>T (n.*5093G>T)
c.*2512G>T (n.*2512G>T)
c.4174G>T (p.Val1392Phe)
n.8001G>T
c.4540G>T (p.Val1514Phe)
c.3817G>T (p.Val1273Phe)
c.2368G>T (p.Val790Phe)
2g.165386773_165386796delCA2573130278SCN2Ac.4579_4602del (p.Phe1527_Asp1534del)
c.*2898_*2921del (n.*2898_*2921del)
c.*2566_*2589del (n.*2566_*2589del)
c.*5102_*5125del (n.*5102_*5125del)
c.*2521_*2544del (n.*2521_*2544del)
c.4183_4206del (p.Phe1395_Asp1402del)
n.8010_8033del
c.4549_4572del (p.Phe1517_Asp1524del)
c.3826_3849del (p.Phe1276_Asp1283del)
c.2377_2400del (p.Phe793_Asp800del)
 ClinVar dbSNP
2g.165386765T>ACA349036187SCN2Ac.4571T>A (p.Val1524Asp)
c.*2890T>A (n.*2890T>A)
c.*2558T>A (n.*2558T>A)
c.*5094T>A (n.*5094T>A)
c.*2513T>A (n.*2513T>A)
c.4175T>A (p.Val1392Asp)
n.8002T>A
c.4541T>A (p.Val1514Asp)
c.3818T>A (p.Val1273Asp)
c.2369T>A (p.Val790Asp)
2g.165386765T>CCA349036188SCN2Ac.4571T>C (p.Val1524Ala)
c.*2890T>C (n.*2890T>C)
c.*2558T>C (n.*2558T>C)
c.*5094T>C (n.*5094T>C)
c.*2513T>C (n.*2513T>C)
c.4175T>C (p.Val1392Ala)
n.8002T>C
c.4541T>C (p.Val1514Ala)
c.3818T>C (p.Val1273Ala)
c.2369T>C (p.Val790Ala)
2g.165386765T>GCA349036189SCN2Ac.4571T>G (p.Val1524Gly)
c.*2890T>G (n.*2890T>G)
c.*2558T>G (n.*2558T>G)
c.*5094T>G (n.*5094T>G)
c.*2513T>G (n.*2513T>G)
c.4175T>G (p.Val1392Gly)
n.8002T>G
c.4541T>G (p.Val1514Gly)
c.3818T>G (p.Val1273Gly)
c.2369T>G (p.Val790Gly)
2g.165386766C>ACA429972430SCN2Ac.4572C>A (p.Val1524=)
c.*2891C>A (n.*2891C>A)
c.*2559C>A (n.*2559C>A)
c.*5095C>A (n.*5095C>A)
c.*2514C>A (n.*2514C>A)
c.4176C>A (p.Val1392=)
n.8003C>A
c.4542C>A (p.Val1514=)
c.3819C>A (p.Val1273=)
c.2370C>A (p.Val790=)
 ClinVar
2g.165386766C=CA1304563742SCN2Ac.4572C= (p.Val1524=)
c.*2891C= (n.*2891C=)
c.*2559C= (n.*2559C=)
c.*5095C= (n.*5095C=)
c.*2514C= (n.*2514C=)
c.4176C= (p.Val1392=)
n.8003C=
c.4542C= (p.Val1514=)
c.3819C= (p.Val1273=)
c.2370C= (p.Val790=)
2g.165386766C>GCA429972432SCN2Ac.4572C>G (p.Val1524=)
c.*2891C>G (n.*2891C>G)
c.*2559C>G (n.*2559C>G)
c.*5095C>G (n.*5095C>G)
c.*2514C>G (n.*2514C>G)
c.4176C>G (p.Val1392=)
n.8003C>G
c.4542C>G (p.Val1514=)
c.3819C>G (p.Val1273=)
c.2370C>G (p.Val790=)
2g.165386766C>TCA59750847SCN2Ac.4572C>T (p.Val1524=)
c.*2891C>T (n.*2891C>T)
c.*2559C>T (n.*2559C>T)
c.*5095C>T (n.*5095C>T)
c.*2514C>T (n.*2514C>T)
c.4176C>T (p.Val1392=)
n.8003C>T
c.4542C>T (p.Val1514=)
c.3819C>T (p.Val1273=)
c.2370C>T (p.Val790=)
 ClinVar dbSNP gnomAD v4
2g.165386767T>ACA349036190SCN2Ac.4573T>A (p.Phe1525Ile)
c.*2892T>A (n.*2892T>A)
c.*2560T>A (n.*2560T>A)
c.*5096T>A (n.*5096T>A)
c.*2515T>A (n.*2515T>A)
c.4177T>A (p.Phe1393Ile)
n.8004T>A
c.4543T>A (p.Phe1515Ile)
c.3820T>A (p.Phe1274Ile)
c.2371T>A (p.Phe791Ile)
2g.165386767T>CCA349036191SCN2Ac.4573T>C (p.Phe1525Leu)
c.*2892T>C (n.*2892T>C)
c.*2560T>C (n.*2560T>C)
c.*5096T>C (n.*5096T>C)
c.*2515T>C (n.*2515T>C)
c.4177T>C (p.Phe1393Leu)
n.8004T>C
c.4543T>C (p.Phe1515Leu)
c.3820T>C (p.Phe1274Leu)
c.2371T>C (p.Phe791Leu)
2g.165386767T>GCA349036192SCN2Ac.4573T>G (p.Phe1525Val)
c.*2892T>G (n.*2892T>G)
c.*2560T>G (n.*2560T>G)
c.*5096T>G (n.*5096T>G)
c.*2515T>G (n.*2515T>G)
c.4177T>G (p.Phe1393Val)
n.8004T>G
c.4543T>G (p.Phe1515Val)
c.3820T>G (p.Phe1274Val)
c.2371T>G (p.Phe791Val)
2g.165386769delCA2740095822SCN2Ac.4575del (p.Phe1525LeufsTer4)
c.*2894del (n.*2894del)
c.*2562del (n.*2562del)
c.*5098del (n.*5098del)
c.*2517del (n.*2517del)
c.4179del (p.Phe1393LeufsTer4)
n.8006del
c.4545del (p.Phe1515LeufsTer4)
c.3822del (p.Phe1274LeufsTer4)
c.2373del (p.Phe791LeufsTer4)
 ClinVar
2g.165386768T>ACA349036195SCN2Ac.4574T>A (p.Phe1525Tyr)
c.*2893T>A (n.*2893T>A)
c.*2561T>A (n.*2561T>A)
c.*5097T>A (n.*5097T>A)
c.*2516T>A (n.*2516T>A)
c.4178T>A (p.Phe1393Tyr)
n.8005T>A
c.4544T>A (p.Phe1515Tyr)
c.3821T>A (p.Phe1274Tyr)
c.2372T>A (p.Phe791Tyr)
2g.165386768T>CCA349036194SCN2Ac.4574T>C (p.Phe1525Ser)
c.*2893T>C (n.*2893T>C)
c.*2561T>C (n.*2561T>C)
c.*5097T>C (n.*5097T>C)
c.*2516T>C (n.*2516T>C)
c.4178T>C (p.Phe1393Ser)
n.8005T>C
c.4544T>C (p.Phe1515Ser)
c.3821T>C (p.Phe1274Ser)
c.2372T>C (p.Phe791Ser)
2g.165386768T>GCA349036193SCN2Ac.4574T>G (p.Phe1525Cys)
c.*2893T>G (n.*2893T>G)
c.*2561T>G (n.*2561T>G)
c.*5097T>G (n.*5097T>G)
c.*2516T>G (n.*2516T>G)
c.4178T>G (p.Phe1393Cys)
n.8005T>G
c.4544T>G (p.Phe1515Cys)
c.3821T>G (p.Phe1274Cys)
c.2372T>G (p.Phe791Cys)
2g.165386769T>ACA349036196SCN2Ac.4575T>A (p.Phe1525Leu)
c.*2894T>A (n.*2894T>A)
c.*2562T>A (n.*2562T>A)
c.*5098T>A (n.*5098T>A)
c.*2517T>A (n.*2517T>A)
c.4179T>A (p.Phe1393Leu)
n.8006T>A
c.4545T>A (p.Phe1515Leu)
c.3822T>A (p.Phe1274Leu)
c.2373T>A (p.Phe791Leu)
2g.165386769T>CCA429972434SCN2Ac.4575T>C (p.Phe1525=)
c.*2894T>C (n.*2894T>C)
c.*2562T>C (n.*2562T>C)
c.*5098T>C (n.*5098T>C)
c.*2517T>C (n.*2517T>C)
c.4179T>C (p.Phe1393=)
n.8006T>C
c.4545T>C (p.Phe1515=)
c.3822T>C (p.Phe1274=)
c.2373T>C (p.Phe791=)
 ClinVar gnomAD v4
2g.165386769T>GCA349036197SCN2Ac.4575T>G (p.Phe1525Leu)
c.*2894T>G (n.*2894T>G)
c.*2562T>G (n.*2562T>G)
c.*5098T>G (n.*5098T>G)
c.*2517T>G (n.*2517T>G)
c.4179T>G (p.Phe1393Leu)
n.8006T>G
c.4545T>G (p.Phe1515Leu)
c.3822T>G (p.Phe1274Leu)
c.2373T>G (p.Phe791Leu)
 ClinVar dbSNP
2g.165386769T=CA1304563743SCN2Ac.4575T= (p.Phe1525=)
c.*2894T= (n.*2894T=)
c.*2562T= (n.*2562T=)
c.*5098T= (n.*5098T=)
c.*2517T= (n.*2517T=)
c.4179T= (p.Phe1393=)
n.8006T=
c.4545T= (p.Phe1515=)
c.3822T= (p.Phe1274=)
c.2373T= (p.Phe791=)
2g.165386770G>ACA349036198SCN2Ac.4576G>A (p.Asp1526Asn)
c.*2895G>A (n.*2895G>A)
c.*2563G>A (n.*2563G>A)
c.*5099G>A (n.*5099G>A)
c.*2518G>A (n.*2518G>A)
c.4180G>A (p.Asp1394Asn)
n.8007G>A
c.4546G>A (p.Asp1516Asn)
c.3823G>A (p.Asp1275Asn)
c.2374G>A (p.Asp792Asn)
2g.165386770G>CCA349036199SCN2Ac.4576G>C (p.Asp1526His)
c.*2895G>C (n.*2895G>C)
c.*2563G>C (n.*2563G>C)
c.*5099G>C (n.*5099G>C)
c.*2518G>C (n.*2518G>C)
c.4180G>C (p.Asp1394His)
n.8007G>C
c.4546G>C (p.Asp1516His)
c.3823G>C (p.Asp1275His)
c.2374G>C (p.Asp792His)
 ClinVar
2g.165386770G>TCA349036200SCN2Ac.4576G>T (p.Asp1526Tyr)
c.*2895G>T (n.*2895G>T)
c.*2563G>T (n.*2563G>T)
c.*5099G>T (n.*5099G>T)
c.*2518G>T (n.*2518G>T)
c.4180G>T (p.Asp1394Tyr)
n.8007G>T
c.4546G>T (p.Asp1516Tyr)
c.3823G>T (p.Asp1275Tyr)
c.2374G>T (p.Asp792Tyr)
2g.165386771A>CCA349036201SCN2Ac.4577A>C (p.Asp1526Ala)
c.*2896A>C (n.*2896A>C)
c.*2564A>C (n.*2564A>C)
c.*5100A>C (n.*5100A>C)
c.*2519A>C (n.*2519A>C)
c.4181A>C (p.Asp1394Ala)
n.8008A>C
c.4547A>C (p.Asp1516Ala)
c.3824A>C (p.Asp1275Ala)
c.2375A>C (p.Asp792Ala)
 COSMIC COSMIC
2g.165386771A>GCA349036202SCN2Ac.4577A>G (p.Asp1526Gly)
c.*2896A>G (n.*2896A>G)
c.*2564A>G (n.*2564A>G)
c.*5100A>G (n.*5100A>G)
c.*2519A>G (n.*2519A>G)
c.4181A>G (p.Asp1394Gly)
n.8008A>G
c.4547A>G (p.Asp1516Gly)
c.3824A>G (p.Asp1275Gly)
c.2375A>G (p.Asp792Gly)
2g.165386771A>TCA349036203SCN2Ac.4577A>T (p.Asp1526Val)
c.*2896A>T (n.*2896A>T)
c.*2564A>T (n.*2564A>T)
c.*5100A>T (n.*5100A>T)
c.*2519A>T (n.*2519A>T)
c.4181A>T (p.Asp1394Val)
n.8008A>T
c.4547A>T (p.Asp1516Val)
c.3824A>T (p.Asp1275Val)
c.2375A>T (p.Asp792Val)
2g.165386772T>ACA349036204SCN2Ac.4578T>A (p.Asp1526Glu)
c.*2897T>A (n.*2897T>A)
c.*2565T>A (n.*2565T>A)
c.*5101T>A (n.*5101T>A)
c.*2520T>A (n.*2520T>A)
c.4182T>A (p.Asp1394Glu)
n.8009T>A
c.4548T>A (p.Asp1516Glu)
c.3825T>A (p.Asp1275Glu)
c.2376T>A (p.Asp792Glu)
2g.165386772T>CCA429972439SCN2Ac.4578T>C (p.Asp1526=)
c.*2897T>C (n.*2897T>C)
c.*2565T>C (n.*2565T>C)
c.*5101T>C (n.*5101T>C)
c.*2520T>C (n.*2520T>C)
c.4182T>C (p.Asp1394=)
n.8009T>C
c.4548T>C (p.Asp1516=)
c.3825T>C (p.Asp1275=)
c.2376T>C (p.Asp792=)
2g.165386772T>GCA349036205SCN2Ac.4578T>G (p.Asp1526Glu)
c.*2897T>G (n.*2897T>G)
c.*2565T>G (n.*2565T>G)
c.*5101T>G (n.*5101T>G)
c.*2520T>G (n.*2520T>G)
c.4182T>G (p.Asp1394Glu)
n.8009T>G
c.4548T>G (p.Asp1516Glu)
c.3825T>G (p.Asp1275Glu)
c.2376T>G (p.Asp792Glu)
 gnomAD v4
2g.165386775dupCA2586970192SCN2Ac.4581dup (p.Val1528CysfsTer7)
c.*2900dup (n.*2900dup)
c.*2568dup (n.*2568dup)
c.*5104dup (n.*5104dup)
c.*2523dup (n.*2523dup)
c.4185dup (p.Val1396CysfsTer7)
n.8012dup
c.4551dup (p.Val1518CysfsTer7)
c.3828dup (p.Val1277CysfsTer7)
c.2379dup (p.Val794CysfsTer7)
2g.165386775delCA2586970191SCN2Ac.4581del (p.Phe1527LeufsTer2)
c.*2900del (n.*2900del)
c.*2568del (n.*2568del)
c.*5104del (n.*5104del)
c.*2523del (n.*2523del)
c.4185del (p.Phe1395LeufsTer2)
n.8012del
c.4551del (p.Phe1517LeufsTer2)
c.3828del (p.Phe1276LeufsTer2)
c.2379del (p.Phe793LeufsTer2)
2g.165386773T>ACA349036206SCN2Ac.4579T>A (p.Phe1527Ile)
c.*2898T>A (n.*2898T>A)
c.*2566T>A (n.*2566T>A)
c.*5102T>A (n.*5102T>A)
c.*2521T>A (n.*2521T>A)
c.4183T>A (p.Phe1395Ile)
n.8010T>A
c.4549T>A (p.Phe1517Ile)
c.3826T>A (p.Phe1276Ile)
c.2377T>A (p.Phe793Ile)
2g.165386773T>CCA349036207SCN2Ac.4579T>C (p.Phe1527Leu)
c.*2898T>C (n.*2898T>C)
c.*2566T>C (n.*2566T>C)
c.*5102T>C (n.*5102T>C)
c.*2521T>C (n.*2521T>C)
c.4183T>C (p.Phe1395Leu)
n.8010T>C
c.4549T>C (p.Phe1517Leu)
c.3826T>C (p.Phe1276Leu)
c.2377T>C (p.Phe793Leu)
2g.165386773T>GCA349036208SCN2Ac.4579T>G (p.Phe1527Val)
c.*2898T>G (n.*2898T>G)
c.*2566T>G (n.*2566T>G)
c.*5102T>G (n.*5102T>G)
c.*2521T>G (n.*2521T>G)
c.4183T>G (p.Phe1395Val)
n.8010T>G
c.4549T>G (p.Phe1517Val)
c.3826T>G (p.Phe1276Val)
c.2377T>G (p.Phe793Val)
 ClinVar
2g.165386774T>ACA349036209SCN2Ac.4580T>A (p.Phe1527Tyr)
c.*2899T>A (n.*2899T>A)
c.*2567T>A (n.*2567T>A)
c.*5103T>A (n.*5103T>A)
c.*2522T>A (n.*2522T>A)
c.4184T>A (p.Phe1395Tyr)
n.8011T>A
c.4550T>A (p.Phe1517Tyr)
c.3827T>A (p.Phe1276Tyr)
c.2378T>A (p.Phe793Tyr)
2g.165386774T>CCA349036211SCN2Ac.4580T>C (p.Phe1527Ser)
c.*2899T>C (n.*2899T>C)
c.*2567T>C (n.*2567T>C)
c.*5103T>C (n.*5103T>C)
c.*2522T>C (n.*2522T>C)
c.4184T>C (p.Phe1395Ser)
n.8011T>C
c.4550T>C (p.Phe1517Ser)
c.3827T>C (p.Phe1276Ser)
c.2378T>C (p.Phe793Ser)
 gnomAD v4
2g.165386774T>GCA349036210SCN2Ac.4580T>G (p.Phe1527Cys)
c.*2899T>G (n.*2899T>G)
c.*2567T>G (n.*2567T>G)
c.*5103T>G (n.*5103T>G)
c.*2522T>G (n.*2522T>G)
c.4184T>G (p.Phe1395Cys)
n.8011T>G
c.4550T>G (p.Phe1517Cys)
c.3827T>G (p.Phe1276Cys)
c.2378T>G (p.Phe793Cys)
2g.165386775T>ACA349036212SCN2Ac.4581T>A (p.Phe1527Leu)
c.*2900T>A (n.*2900T>A)
c.*2568T>A (n.*2568T>A)
c.*5104T>A (n.*5104T>A)
c.*2523T>A (n.*2523T>A)
c.4185T>A (p.Phe1395Leu)
n.8012T>A
c.4551T>A (p.Phe1517Leu)
c.3828T>A (p.Phe1276Leu)
c.2379T>A (p.Phe793Leu)
2g.165386775T>CCA429972442SCN2Ac.4581T>C (p.Phe1527=)
c.*2900T>C (n.*2900T>C)
c.*2568T>C (n.*2568T>C)
c.*5104T>C (n.*5104T>C)
c.*2523T>C (n.*2523T>C)
c.4185T>C (p.Phe1395=)
n.8012T>C
c.4551T>C (p.Phe1517=)
c.3828T>C (p.Phe1276=)
c.2379T>C (p.Phe793=)
2g.165386775T>GCA349036213SCN2Ac.4581T>G (p.Phe1527Leu)
c.*2900T>G (n.*2900T>G)
c.*2568T>G (n.*2568T>G)
c.*5104T>G (n.*5104T>G)
c.*2523T>G (n.*2523T>G)
c.4185T>G (p.Phe1395Leu)
n.8012T>G
c.4551T>G (p.Phe1517Leu)
c.3828T>G (p.Phe1276Leu)
c.2379T>G (p.Phe793Leu)
 ClinVar
2g.165386776G>ACA349036214SCN2Ac.4582G>A (p.Val1528Ile)
c.*2901G>A (n.*2901G>A)
c.*2569G>A (n.*2569G>A)
c.*5105G>A (n.*5105G>A)
c.*2524G>A (n.*2524G>A)
c.4186G>A (p.Val1396Ile)
n.8013G>A
c.4552G>A (p.Val1518Ile)
c.3829G>A (p.Val1277Ile)
c.2380G>A (p.Val794Ile)
2g.165386776G>CCA349036215SCN2Ac.4582G>C (p.Val1528Leu)
c.*2901G>C (n.*2901G>C)
c.*2569G>C (n.*2569G>C)
c.*5105G>C (n.*5105G>C)
c.*2524G>C (n.*2524G>C)
c.4186G>C (p.Val1396Leu)
n.8013G>C
c.4552G>C (p.Val1518Leu)
c.3829G>C (p.Val1277Leu)
c.2380G>C (p.Val794Leu)
2g.165386776G>TCA349036216SCN2Ac.4582G>T (p.Val1528Leu)
c.*2901G>T (n.*2901G>T)
c.*2569G>T (n.*2569G>T)
c.*5105G>T (n.*5105G>T)
c.*2524G>T (n.*2524G>T)
c.4186G>T (p.Val1396Leu)
n.8013G>T
c.4552G>T (p.Val1518Leu)
c.3829G>T (p.Val1277Leu)
c.2380G>T (p.Val794Leu)
2g.165386777T>ACA349036217SCN2Ac.4583T>A (p.Val1528Glu)
c.*2902T>A (n.*2902T>A)
c.*2570T>A (n.*2570T>A)
c.*5106T>A (n.*5106T>A)
c.*2525T>A (n.*2525T>A)
c.4187T>A (p.Val1396Glu)
n.8014T>A
c.4553T>A (p.Val1518Glu)
c.3830T>A (p.Val1277Glu)
c.2381T>A (p.Val794Glu)
2g.165386777T>CCA349036218SCN2Ac.4583T>C (p.Val1528Ala)
c.*2902T>C (n.*2902T>C)
c.*2570T>C (n.*2570T>C)
c.*5106T>C (n.*5106T>C)
c.*2525T>C (n.*2525T>C)
c.4187T>C (p.Val1396Ala)
n.8014T>C
c.4553T>C (p.Val1518Ala)
c.3830T>C (p.Val1277Ala)
c.2381T>C (p.Val794Ala)
2g.165386777T>GCA349036219SCN2Ac.4583T>G (p.Val1528Gly)
c.*2902T>G (n.*2902T>G)
c.*2570T>G (n.*2570T>G)
c.*5106T>G (n.*5106T>G)
c.*2525T>G (n.*2525T>G)
c.4187T>G (p.Val1396Gly)
n.8014T>G
c.4553T>G (p.Val1518Gly)
c.3830T>G (p.Val1277Gly)
c.2381T>G (p.Val794Gly)
2g.165386778A=CA1304563744SCN2Ac.4584A= (p.Val1528=)
c.*2903A= (n.*2903A=)
c.*2571A= (n.*2571A=)
c.*5107A= (n.*5107A=)
c.*2526A= (n.*2526A=)
c.4188A= (p.Val1396=)
n.8015A=
c.4554A= (p.Val1518=)
c.3831A= (p.Val1277=)
c.2382A= (p.Val794=)
2g.165386778A>CCA429972446SCN2Ac.4584A>C (p.Val1528=)
c.*2903A>C (n.*2903A>C)
c.*2571A>C (n.*2571A>C)
c.*5107A>C (n.*5107A>C)
c.*2526A>C (n.*2526A>C)
c.4188A>C (p.Val1396=)
n.8015A>C
c.4554A>C (p.Val1518=)
c.3831A>C (p.Val1277=)
c.2382A>C (p.Val794=)
2g.165386778A>GCA429972447SCN2Ac.4584A>G (p.Val1528=)
c.*2903A>G (n.*2903A>G)
c.*2571A>G (n.*2571A>G)
c.*5107A>G (n.*5107A>G)
c.*2526A>G (n.*2526A>G)
c.4188A>G (p.Val1396=)
n.8015A>G
c.4554A>G (p.Val1518=)
c.3831A>G (p.Val1277=)
c.2382A>G (p.Val794=)
2g.165386778A>TCA59750860SCN2Ac.4584A>T (p.Val1528=)
c.*2903A>T (n.*2903A>T)
c.*2571A>T (n.*2571A>T)
c.*5107A>T (n.*5107A>T)
c.*2526A>T (n.*2526A>T)
c.4188A>T (p.Val1396=)
n.8015A>T
c.4554A>T (p.Val1518=)
c.3831A>T (p.Val1277=)
c.2382A>T (p.Val794=)
 dbSNP
2g.165386779A=CA1304563745SCN2Ac.4585A= (p.Thr1529=)
c.*2904A= (n.*2904A=)
c.*2572A= (n.*2572A=)
c.*5108A= (n.*5108A=)
c.*2527A= (n.*2527A=)
c.4189A= (p.Thr1397=)
n.8016A=
c.4555A= (p.Thr1519=)
c.3832A= (p.Thr1278=)
c.2383A= (p.Thr795=)
2g.165386779A>CCA349036220SCN2Ac.4585A>C (p.Thr1529Pro)
c.*2904A>C (n.*2904A>C)
c.*2572A>C (n.*2572A>C)
c.*5108A>C (n.*5108A>C)
c.*2527A>C (n.*2527A>C)
c.4189A>C (p.Thr1397Pro)
n.8016A>C
c.4555A>C (p.Thr1519Pro)
c.3832A>C (p.Thr1278Pro)
c.2383A>C (p.Thr795Pro)
2g.165386779A>GCA349036221SCN2Ac.4585A>G (p.Thr1529Ala)
c.*2904A>G (n.*2904A>G)
c.*2572A>G (n.*2572A>G)
c.*5108A>G (n.*5108A>G)
c.*2527A>G (n.*2527A>G)
c.4189A>G (p.Thr1397Ala)
n.8016A>G
c.4555A>G (p.Thr1519Ala)
c.3832A>G (p.Thr1278Ala)
c.2383A>G (p.Thr795Ala)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165386779A>TCA349036222SCN2Ac.4585A>T (p.Thr1529Ser)
c.*2904A>T (n.*2904A>T)
c.*2572A>T (n.*2572A>T)
c.*5108A>T (n.*5108A>T)
c.*2527A>T (n.*2527A>T)
c.4189A>T (p.Thr1397Ser)
n.8016A>T
c.4555A>T (p.Thr1519Ser)
c.3832A>T (p.Thr1278Ser)
c.2383A>T (p.Thr795Ser)
2g.165386780C>ACA349036224SCN2Ac.4586C>A (p.Thr1529Asn)
c.*2905C>A (n.*2905C>A)
c.*2573C>A (n.*2573C>A)
c.*5109C>A (n.*5109C>A)
c.*2528C>A (n.*2528C>A)
c.4190C>A (p.Thr1397Asn)
n.8017C>A
c.4556C>A (p.Thr1519Asn)
c.3833C>A (p.Thr1278Asn)
c.2384C>A (p.Thr795Asn)
2g.165386780C>GCA349036225SCN2Ac.4586C>G (p.Thr1529Ser)
c.*2905C>G (n.*2905C>G)
c.*2573C>G (n.*2573C>G)
c.*5109C>G (n.*5109C>G)
c.*2528C>G (n.*2528C>G)
c.4190C>G (p.Thr1397Ser)
n.8017C>G
c.4556C>G (p.Thr1519Ser)
c.3833C>G (p.Thr1278Ser)
c.2384C>G (p.Thr795Ser)
2g.165386780C>TCA349036223SCN2Ac.4586C>T (p.Thr1529Ile)
c.*2905C>T (n.*2905C>T)
c.*2573C>T (n.*2573C>T)
c.*5109C>T (n.*5109C>T)
c.*2528C>T (n.*2528C>T)
c.4190C>T (p.Thr1397Ile)
n.8017C>T
c.4556C>T (p.Thr1519Ile)
c.3833C>T (p.Thr1278Ile)
c.2384C>T (p.Thr795Ile)
 COSMIC COSMIC
2g.165386781C>ACA429972451SCN2Ac.4587C>A (p.Thr1529=)
c.*2906C>A (n.*2906C>A)
c.*2574C>A (n.*2574C>A)
c.*5110C>A (n.*5110C>A)
c.*2529C>A (n.*2529C>A)
c.4191C>A (p.Thr1397=)
n.8018C>A
c.4557C>A (p.Thr1519=)
c.3834C>A (p.Thr1278=)
c.2385C>A (p.Thr795=)
2g.165386781C>GCA429972452SCN2Ac.4587C>G (p.Thr1529=)
c.*2906C>G (n.*2906C>G)
c.*2574C>G (n.*2574C>G)
c.*5110C>G (n.*5110C>G)
c.*2529C>G (n.*2529C>G)
c.4191C>G (p.Thr1397=)
n.8018C>G
c.4557C>G (p.Thr1519=)
c.3834C>G (p.Thr1278=)
c.2385C>G (p.Thr795=)
2g.165386781C>TCA429972453SCN2Ac.4587C>T (p.Thr1529=)
c.*2906C>T (n.*2906C>T)
c.*2574C>T (n.*2574C>T)
c.*5110C>T (n.*5110C>T)
c.*2529C>T (n.*2529C>T)
c.4191C>T (p.Thr1397=)
n.8018C>T
c.4557C>T (p.Thr1519=)
c.3834C>T (p.Thr1278=)
c.2385C>T (p.Thr795=)
2g.165386782A=CA1304563746SCN2Ac.4588A= (p.Lys1530=)
c.*2907A= (n.*2907A=)
c.*2575A= (n.*2575A=)
c.*5111A= (n.*5111A=)
c.*2530A= (n.*2530A=)
c.4192A= (p.Lys1398=)
n.8019A=
c.4558A= (p.Lys1520=)
c.3835A= (p.Lys1279=)
c.2386A= (p.Lys796=)
2g.165386782A>CCA349036228SCN2Ac.4588A>C (p.Lys1530Gln)
c.*2907A>C (n.*2907A>C)
c.*2575A>C (n.*2575A>C)
c.*5111A>C (n.*5111A>C)
c.*2530A>C (n.*2530A>C)
c.4192A>C (p.Lys1398Gln)
n.8019A>C
c.4558A>C (p.Lys1520Gln)
c.3835A>C (p.Lys1279Gln)
c.2386A>C (p.Lys796Gln)
2g.165386782A>GCA349036226SCN2Ac.4588A>G (p.Lys1530Glu)
c.*2907A>G (n.*2907A>G)
c.*2575A>G (n.*2575A>G)
c.*5111A>G (n.*5111A>G)
c.*2530A>G (n.*2530A>G)
c.4192A>G (p.Lys1398Glu)
n.8019A>G
c.4558A>G (p.Lys1520Glu)
c.3835A>G (p.Lys1279Glu)
c.2386A>G (p.Lys796Glu)
2g.165386782A>TCA349036227SCN2Ac.4588A>T (p.Lys1530Ter)
c.*2907A>T (n.*2907A>T)
c.*2575A>T (n.*2575A>T)
c.*5111A>T (n.*5111A>T)
c.*2530A>T (n.*2530A>T)
c.4192A>T (p.Lys1398Ter)
n.8019A>T
c.4558A>T (p.Lys1520Ter)
c.3835A>T (p.Lys1279Ter)
c.2386A>T (p.Lys796Ter)
 dbSNP
2g.165386783A>CCA349036229SCN2Ac.4589A>C (p.Lys1530Thr)
c.*2908A>C (n.*2908A>C)
c.*2576A>C (n.*2576A>C)
c.*5112A>C (n.*5112A>C)
c.*2531A>C (n.*2531A>C)
c.4193A>C (p.Lys1398Thr)
n.8020A>C
c.4559A>C (p.Lys1520Thr)
c.3836A>C (p.Lys1279Thr)
c.2387A>C (p.Lys796Thr)
2g.165386783A>GCA349036230SCN2Ac.4589A>G (p.Lys1530Arg)
c.*2908A>G (n.*2908A>G)
c.*2576A>G (n.*2576A>G)
c.*5112A>G (n.*5112A>G)
c.*2531A>G (n.*2531A>G)
c.4193A>G (p.Lys1398Arg)
n.8020A>G
c.4559A>G (p.Lys1520Arg)
c.3836A>G (p.Lys1279Arg)
c.2387A>G (p.Lys796Arg)
2g.165386783A>TCA349036231SCN2Ac.4589A>T (p.Lys1530Ile)
c.*2908A>T (n.*2908A>T)
c.*2576A>T (n.*2576A>T)
c.*5112A>T (n.*5112A>T)
c.*2531A>T (n.*2531A>T)
c.4193A>T (p.Lys1398Ile)
n.8020A>T
c.4559A>T (p.Lys1520Ile)
c.3836A>T (p.Lys1279Ile)
c.2387A>T (p.Lys796Ile)
2g.165386784A=CA1304563747SCN2Ac.4590A= (p.Lys1530=)
c.*2909A= (n.*2909A=)
c.*2577A= (n.*2577A=)
c.*5113A= (n.*5113A=)
c.*2532A= (n.*2532A=)
c.4194A= (p.Lys1398=)
n.8021A=
c.4560A= (p.Lys1520=)
c.3837A= (p.Lys1279=)
c.2388A= (p.Lys796=)
2g.165386784A>CCA349036232SCN2Ac.4590A>C (p.Lys1530Asn)
c.*2909A>C (n.*2909A>C)
c.*2577A>C (n.*2577A>C)
c.*5113A>C (n.*5113A>C)
c.*2532A>C (n.*2532A>C)
c.4194A>C (p.Lys1398Asn)
n.8021A>C
c.4560A>C (p.Lys1520Asn)
c.3837A>C (p.Lys1279Asn)
c.2388A>C (p.Lys796Asn)
2g.165386784A>GCA429972457SCN2Ac.4590A>G (p.Lys1530=)
c.*2909A>G (n.*2909A>G)
c.*2577A>G (n.*2577A>G)
c.*5113A>G (n.*5113A>G)
c.*2532A>G (n.*2532A>G)
c.4194A>G (p.Lys1398=)
n.8021A>G
c.4560A>G (p.Lys1520=)
c.3837A>G (p.Lys1279=)
c.2388A>G (p.Lys796=)
 dbSNP
2g.165386784A>TCA349036233SCN2Ac.4590A>T (p.Lys1530Asn)
c.*2909A>T (n.*2909A>T)
c.*2577A>T (n.*2577A>T)
c.*5113A>T (n.*5113A>T)
c.*2532A>T (n.*2532A>T)
c.4194A>T (p.Lys1398Asn)
n.8021A>T
c.4560A>T (p.Lys1520Asn)
c.3837A>T (p.Lys1279Asn)
c.2388A>T (p.Lys796Asn)
2g.165386785C>ACA349036234SCN2Ac.4591C>A (p.Gln1531Lys)
c.*2910C>A (n.*2910C>A)
c.*2578C>A (n.*2578C>A)
c.*5114C>A (n.*5114C>A)
c.*2533C>A (n.*2533C>A)
c.4195C>A (p.Gln1399Lys)
n.8022C>A
c.4561C>A (p.Gln1521Lys)
c.3838C>A (p.Gln1280Lys)
c.2389C>A (p.Gln797Lys)
2g.165386785C=CA1304563748SCN2Ac.4591C= (p.Gln1531=)
c.*2910C= (n.*2910C=)
c.*2578C= (n.*2578C=)
c.*5114C= (n.*5114C=)
c.*2533C= (n.*2533C=)
c.4195C= (p.Gln1399=)
n.8022C=
c.4561C= (p.Gln1521=)
c.3838C= (p.Gln1280=)
c.2389C= (p.Gln797=)
2g.165386785C>GCA349036235SCN2Ac.4591C>G (p.Gln1531Glu)
c.*2910C>G (n.*2910C>G)
c.*2578C>G (n.*2578C>G)
c.*5114C>G (n.*5114C>G)
c.*2533C>G (n.*2533C>G)
c.4195C>G (p.Gln1399Glu)
n.8022C>G
c.4561C>G (p.Gln1521Glu)
c.3838C>G (p.Gln1280Glu)
c.2389C>G (p.Gln797Glu)
2g.165386785C>TCA349036236SCN2Ac.4591C>T (p.Gln1531Ter)
c.*2910C>T (n.*2910C>T)
c.*2578C>T (n.*2578C>T)
c.*5114C>T (n.*5114C>T)
c.*2533C>T (n.*2533C>T)
c.4195C>T (p.Gln1399Ter)
n.8022C>T
c.4561C>T (p.Gln1521Ter)
c.3838C>T (p.Gln1280Ter)
c.2389C>T (p.Gln797Ter)
 ClinVar dbSNP
2g.165386786A>CCA349036237SCN2Ac.4592A>C (p.Gln1531Pro)
c.*2911A>C (n.*2911A>C)
c.*2579A>C (n.*2579A>C)
c.*5115A>C (n.*5115A>C)
c.*2534A>C (n.*2534A>C)
c.4196A>C (p.Gln1399Pro)
n.8023A>C
c.4562A>C (p.Gln1521Pro)
c.3839A>C (p.Gln1280Pro)
c.2390A>C (p.Gln797Pro)
2g.165386786A>GCA349036238SCN2Ac.4592A>G (p.Gln1531Arg)
c.*2911A>G (n.*2911A>G)
c.*2579A>G (n.*2579A>G)
c.*5115A>G (n.*5115A>G)
c.*2534A>G (n.*2534A>G)
c.4196A>G (p.Gln1399Arg)
n.8023A>G
c.4562A>G (p.Gln1521Arg)
c.3839A>G (p.Gln1280Arg)
c.2390A>G (p.Gln797Arg)
2g.165386786A>TCA349036239SCN2Ac.4592A>T (p.Gln1531Leu)
c.*2911A>T (n.*2911A>T)
c.*2579A>T (n.*2579A>T)
c.*5115A>T (n.*5115A>T)
c.*2534A>T (n.*2534A>T)
c.4196A>T (p.Gln1399Leu)
n.8023A>T
c.4562A>T (p.Gln1521Leu)
c.3839A>T (p.Gln1280Leu)
c.2390A>T (p.Gln797Leu)
2g.165386787A>CCA349036241SCN2Ac.4593A>C (p.Gln1531His)
c.*2912A>C (n.*2912A>C)
c.*2580A>C (n.*2580A>C)
c.*5116A>C (n.*5116A>C)
c.*2535A>C (n.*2535A>C)
c.4197A>C (p.Gln1399His)
n.8024A>C
c.4563A>C (p.Gln1521His)
c.3840A>C (p.Gln1280His)
c.2391A>C (p.Gln797His)
2g.165386787A>GCA429972468SCN2Ac.4593A>G (p.Gln1531=)
c.*2912A>G (n.*2912A>G)
c.*2580A>G (n.*2580A>G)
c.*5116A>G (n.*5116A>G)
c.*2535A>G (n.*2535A>G)
c.4197A>G (p.Gln1399=)
n.8024A>G
c.4563A>G (p.Gln1521=)
c.3840A>G (p.Gln1280=)
c.2391A>G (p.Gln797=)
2g.165386787A>TCA349036240SCN2Ac.4593A>T (p.Gln1531His)
c.*2912A>T (n.*2912A>T)
c.*2580A>T (n.*2580A>T)
c.*5116A>T (n.*5116A>T)
c.*2535A>T (n.*2535A>T)
c.4197A>T (p.Gln1399His)
n.8024A>T
c.4563A>T (p.Gln1521His)
c.3840A>T (p.Gln1280His)
c.2391A>T (p.Gln797His)
 ClinVar dbSNP
2g.165386788G>ACA349036242SCN2Ac.4594G>A (p.Val1532Ile)
c.*2913G>A (n.*2913G>A)
c.*2581G>A (n.*2581G>A)
c.*5117G>A (n.*5117G>A)
c.*2536G>A (n.*2536G>A)
c.4198G>A (p.Val1400Ile)
n.8025G>A
c.4564G>A (p.Val1522Ile)
c.3841G>A (p.Val1281Ile)
c.2392G>A (p.Val798Ile)
2g.165386788G>CCA349036243SCN2Ac.4594G>C (p.Val1532Leu)
c.*2913G>C (n.*2913G>C)
c.*2581G>C (n.*2581G>C)
c.*5117G>C (n.*5117G>C)
c.*2536G>C (n.*2536G>C)
c.4198G>C (p.Val1400Leu)
n.8025G>C
c.4564G>C (p.Val1522Leu)
c.3841G>C (p.Val1281Leu)
c.2392G>C (p.Val798Leu)
2g.165386788G>TCA349036244SCN2Ac.4594G>T (p.Val1532Phe)
c.*2913G>T (n.*2913G>T)
c.*2581G>T (n.*2581G>T)
c.*5117G>T (n.*5117G>T)
c.*2536G>T (n.*2536G>T)
c.4198G>T (p.Val1400Phe)
n.8025G>T
c.4564G>T (p.Val1522Phe)
c.3841G>T (p.Val1281Phe)
c.2392G>T (p.Val798Phe)
2g.165386789T>ACA349036245SCN2Ac.4595T>A (p.Val1532Asp)
c.*2914T>A (n.*2914T>A)
c.*2582T>A (n.*2582T>A)
c.*5118T>A (n.*5118T>A)
c.*2537T>A (n.*2537T>A)
c.4199T>A (p.Val1400Asp)
n.8026T>A
c.4565T>A (p.Val1522Asp)
c.3842T>A (p.Val1281Asp)
c.2393T>A (p.Val798Asp)
2g.165386789T>CCA349036246SCN2Ac.4595T>C (p.Val1532Ala)
c.*2914T>C (n.*2914T>C)
c.*2582T>C (n.*2582T>C)
c.*5118T>C (n.*5118T>C)
c.*2537T>C (n.*2537T>C)
c.4199T>C (p.Val1400Ala)
n.8026T>C
c.4565T>C (p.Val1522Ala)
c.3842T>C (p.Val1281Ala)
c.2393T>C (p.Val798Ala)
 gnomAD v4
2g.165386789T>GCA349036247SCN2Ac.4595T>G (p.Val1532Gly)
c.*2914T>G (n.*2914T>G)
c.*2582T>G (n.*2582T>G)
c.*5118T>G (n.*5118T>G)
c.*2537T>G (n.*2537T>G)
c.4199T>G (p.Val1400Gly)
n.8026T>G
c.4565T>G (p.Val1522Gly)
c.3842T>G (p.Val1281Gly)
c.2393T>G (p.Val798Gly)
2g.165386790delCA2580614379SCN2Ac.4596del (p.Phe1533LeufsTer6)
c.*2915del (n.*2915del)
c.*2583del (n.*2583del)
c.*5119del (n.*5119del)
c.*2538del (n.*2538del)
c.4200del (p.Phe1401LeufsTer6)
n.8027del
c.4566del (p.Phe1523LeufsTer6)
c.3843del (p.Phe1282LeufsTer6)
c.2394del (p.Phe799LeufsTer6)
 ClinVar
2g.165386790C>ACA1940305SCN2Ac.4596C>A (p.Val1532=)
c.*2915C>A (n.*2915C>A)
c.*2583C>A (n.*2583C>A)
c.*5119C>A (n.*5119C>A)
c.*2538C>A (n.*2538C>A)
c.4200C>A (p.Val1400=)
n.8027C>A
c.4566C>A (p.Val1522=)
c.3843C>A (p.Val1281=)
c.2394C>A (p.Val798=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.165386790C=CA1304563749SCN2Ac.4596C= (p.Val1532=)
c.*2915C= (n.*2915C=)
c.*2583C= (n.*2583C=)
c.*5119C= (n.*5119C=)
c.*2538C= (n.*2538C=)
c.4200C= (p.Val1400=)
n.8027C=
c.4566C= (p.Val1522=)
c.3843C= (p.Val1281=)
c.2394C= (p.Val798=)
2g.165386790C>GCA429972471SCN2Ac.4596C>G (p.Val1532=)
c.*2915C>G (n.*2915C>G)
c.*2583C>G (n.*2583C>G)
c.*5119C>G (n.*5119C>G)
c.*2538C>G (n.*2538C>G)
c.4200C>G (p.Val1400=)
n.8027C>G
c.4566C>G (p.Val1522=)
c.3843C>G (p.Val1281=)
c.2394C>G (p.Val798=)
 ClinVar dbSNP
2g.165386790C>TCA429972473SCN2Ac.4596C>T (p.Val1532=)
c.*2915C>T (n.*2915C>T)
c.*2583C>T (n.*2583C>T)
c.*5119C>T (n.*5119C>T)
c.*2538C>T (n.*2538C>T)
c.4200C>T (p.Val1400=)
n.8027C>T
c.4566C>T (p.Val1522=)
c.3843C>T (p.Val1281=)
c.2394C>T (p.Val798=)
 COSMIC COSMIC
2g.165386791T>ACA349036248SCN2Ac.4597T>A (p.Phe1533Ile)
c.*2916T>A (n.*2916T>A)
c.*2584T>A (n.*2584T>A)
c.*5120T>A (n.*5120T>A)
c.*2539T>A (n.*2539T>A)
c.4201T>A (p.Phe1401Ile)
n.8028T>A
c.4567T>A (p.Phe1523Ile)
c.3844T>A (p.Phe1282Ile)
c.2395T>A (p.Phe799Ile)
2g.165386791T>CCA349036249SCN2Ac.4597T>C (p.Phe1533Leu)
c.*2916T>C (n.*2916T>C)
c.*2584T>C (n.*2584T>C)
c.*5120T>C (n.*5120T>C)
c.*2539T>C (n.*2539T>C)
c.4201T>C (p.Phe1401Leu)
n.8028T>C
c.4567T>C (p.Phe1523Leu)
c.3844T>C (p.Phe1282Leu)
c.2395T>C (p.Phe799Leu)
2g.165386791T>GCA349036250SCN2Ac.4597T>G (p.Phe1533Val)
c.*2916T>G (n.*2916T>G)
c.*2584T>G (n.*2584T>G)
c.*5120T>G (n.*5120T>G)
c.*2539T>G (n.*2539T>G)
c.4201T>G (p.Phe1401Val)
n.8028T>G
c.4567T>G (p.Phe1523Val)
c.3844T>G (p.Phe1282Val)
c.2395T>G (p.Phe799Val)
 dbSNP
2g.165386791T=CA1304563750SCN2Ac.4597T= (p.Phe1533=)
c.*2916T= (n.*2916T=)
c.*2584T= (n.*2584T=)
c.*5120T= (n.*5120T=)
c.*2539T= (n.*2539T=)
c.4201T= (p.Phe1401=)
n.8028T=
c.4567T= (p.Phe1523=)
c.3844T= (p.Phe1282=)
c.2395T= (p.Phe799=)
2g.165386792T>ACA349036251SCN2Ac.4598T>A (p.Phe1533Tyr)
c.*2917T>A (n.*2917T>A)
c.*2585T>A (n.*2585T>A)
c.*5121T>A (n.*5121T>A)
c.*2540T>A (n.*2540T>A)
c.4202T>A (p.Phe1401Tyr)
n.8029T>A
c.4568T>A (p.Phe1523Tyr)
c.3845T>A (p.Phe1282Tyr)
c.2396T>A (p.Phe799Tyr)
2g.165386792T>CCA349036252SCN2Ac.4598T>C (p.Phe1533Ser)
c.*2917T>C (n.*2917T>C)
c.*2585T>C (n.*2585T>C)
c.*5121T>C (n.*5121T>C)
c.*2540T>C (n.*2540T>C)
c.4202T>C (p.Phe1401Ser)
n.8029T>C
c.4568T>C (p.Phe1523Ser)
c.3845T>C (p.Phe1282Ser)
c.2396T>C (p.Phe799Ser)
2g.165386792T>GCA349036253SCN2Ac.4598T>G (p.Phe1533Cys)
c.*2917T>G (n.*2917T>G)
c.*2585T>G (n.*2585T>G)
c.*5121T>G (n.*5121T>G)
c.*2540T>G (n.*2540T>G)
c.4202T>G (p.Phe1401Cys)
n.8029T>G
c.4568T>G (p.Phe1523Cys)
c.3845T>G (p.Phe1282Cys)
c.2396T>G (p.Phe799Cys)
2g.165386793T>ACA349036255SCN2Ac.4599T>A (p.Phe1533Leu)
c.*2918T>A (n.*2918T>A)
c.*2586T>A (n.*2586T>A)
c.*5122T>A (n.*5122T>A)
c.*2541T>A (n.*2541T>A)
c.4203T>A (p.Phe1401Leu)
n.8030T>A
c.4569T>A (p.Phe1523Leu)
c.3846T>A (p.Phe1282Leu)
c.2397T>A (p.Phe799Leu)
2g.165386793T>CCA429972481SCN2Ac.4599T>C (p.Phe1533=)
c.*2918T>C (n.*2918T>C)
c.*2586T>C (n.*2586T>C)
c.*5122T>C (n.*5122T>C)
c.*2541T>C (n.*2541T>C)
c.4203T>C (p.Phe1401=)
n.8030T>C
c.4569T>C (p.Phe1523=)
c.3846T>C (p.Phe1282=)
c.2397T>C (p.Phe799=)
2g.165386793T>GCA349036254SCN2Ac.4599T>G (p.Phe1533Leu)
c.*2918T>G (n.*2918T>G)
c.*2586T>G (n.*2586T>G)
c.*5122T>G (n.*5122T>G)
c.*2541T>G (n.*2541T>G)
c.4203T>G (p.Phe1401Leu)
n.8030T>G
c.4569T>G (p.Phe1523Leu)
c.3846T>G (p.Phe1282Leu)
c.2397T>G (p.Phe799Leu)
2g.165386794G>ACA349036256SCN2Ac.4600G>A (p.Asp1534Asn)
c.*2919G>A (n.*2919G>A)
c.*2587G>A (n.*2587G>A)
c.*5123G>A (n.*5123G>A)
c.*2542G>A (n.*2542G>A)
c.4204G>A (p.Asp1402Asn)
n.8031G>A
c.4570G>A (p.Asp1524Asn)
c.3847G>A (p.Asp1283Asn)
c.2398G>A (p.Asp800Asn)
2g.165386794G>CCA349036257SCN2Ac.4600G>C (p.Asp1534His)
c.*2919G>C (n.*2919G>C)
c.*2587G>C (n.*2587G>C)
c.*5123G>C (n.*5123G>C)
c.*2542G>C (n.*2542G>C)
c.4204G>C (p.Asp1402His)
n.8031G>C
c.4570G>C (p.Asp1524His)
c.3847G>C (p.Asp1283His)
c.2398G>C (p.Asp800His)
2g.165386794G>TCA349036258SCN2Ac.4600G>T (p.Asp1534Tyr)
c.*2919G>T (n.*2919G>T)
c.*2587G>T (n.*2587G>T)
c.*5123G>T (n.*5123G>T)
c.*2542G>T (n.*2542G>T)
c.4204G>T (p.Asp1402Tyr)
n.8031G>T
c.4570G>T (p.Asp1524Tyr)
c.3847G>T (p.Asp1283Tyr)
c.2398G>T (p.Asp800Tyr)
2g.165386795A>CCA349036259SCN2Ac.4601A>C (p.Asp1534Ala)
c.*2920A>C (n.*2920A>C)
c.*2588A>C (n.*2588A>C)
c.*5124A>C (n.*5124A>C)
c.*2543A>C (n.*2543A>C)
c.4205A>C (p.Asp1402Ala)
n.8032A>C
c.4571A>C (p.Asp1524Ala)
c.3848A>C (p.Asp1283Ala)
c.2399A>C (p.Asp800Ala)
2g.165386795A>GCA349036260SCN2Ac.4601A>G (p.Asp1534Gly)
c.*2920A>G (n.*2920A>G)
c.*2588A>G (n.*2588A>G)
c.*5124A>G (n.*5124A>G)
c.*2543A>G (n.*2543A>G)
c.4205A>G (p.Asp1402Gly)
n.8032A>G
c.4571A>G (p.Asp1524Gly)
c.3848A>G (p.Asp1283Gly)
c.2399A>G (p.Asp800Gly)
2g.165386795A>TCA349036261SCN2Ac.4601A>T (p.Asp1534Val)
c.*2920A>T (n.*2920A>T)
c.*2588A>T (n.*2588A>T)
c.*5124A>T (n.*5124A>T)
c.*2543A>T (n.*2543A>T)
c.4205A>T (p.Asp1402Val)
n.8032A>T
c.4571A>T (p.Asp1524Val)
c.3848A>T (p.Asp1283Val)
c.2399A>T (p.Asp800Val)
2g.165386796T>ACA349036262SCN2Ac.4602T>A (p.Asp1534Glu)
c.*2921T>A (n.*2921T>A)
c.*2589T>A (n.*2589T>A)
c.*5125T>A (n.*5125T>A)
c.*2544T>A (n.*2544T>A)
c.4206T>A (p.Asp1402Glu)
n.8033T>A
c.4572T>A (p.Asp1524Glu)
c.3849T>A (p.Asp1283Glu)
c.2400T>A (p.Asp800Glu)
2g.165386796T>CCA429972485SCN2Ac.4602T>C (p.Asp1534=)
c.*2921T>C (n.*2921T>C)
c.*2589T>C (n.*2589T>C)
c.*5125T>C (n.*5125T>C)
c.*2544T>C (n.*2544T>C)
c.4206T>C (p.Asp1402=)
n.8033T>C
c.4572T>C (p.Asp1524=)
c.3849T>C (p.Asp1283=)
c.2400T>C (p.Asp800=)
 gnomAD v4
2g.165386796T>GCA349036263SCN2Ac.4602T>G (p.Asp1534Glu)
c.*2921T>G (n.*2921T>G)
c.*2589T>G (n.*2589T>G)
c.*5125T>G (n.*5125T>G)
c.*2544T>G (n.*2544T>G)
c.4206T>G (p.Asp1402Glu)
n.8033T>G
c.4572T>G (p.Asp1524Glu)
c.3849T>G (p.Asp1283Glu)
c.2400T>G (p.Asp800Glu)
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)
 ClinVar 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)

Number of alleles fetched