Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165386837T>ACA349036354SCN2Ac.4643T>A (p.Met1548Lys)
c.*2962T>A (n.*2962T>A)
c.*2630T>A (n.*2630T>A)
c.*5166T>A (n.*5166T>A)
c.*2585T>A (n.*2585T>A)
c.4247T>A (p.Met1416Lys)
n.8074T>A
c.4613T>A (p.Met1538Lys)
c.3890T>A (p.Met1297Lys)
c.2441T>A (p.Met814Lys)
2g.165386837T>CCA16044310SCN2Ac.4643T>C (p.Met1548Thr)
c.*2962T>C (n.*2962T>C)
c.*2630T>C (n.*2630T>C)
c.*5166T>C (n.*5166T>C)
c.*2585T>C (n.*2585T>C)
c.4247T>C (p.Met1416Thr)
n.8074T>C
c.4613T>C (p.Met1538Thr)
c.3890T>C (p.Met1297Thr)
c.2441T>C (p.Met814Thr)
 ClinVar dbSNP
2g.165386837T>GCA349036353SCN2Ac.4643T>G (p.Met1548Arg)
c.*2962T>G (n.*2962T>G)
c.*2630T>G (n.*2630T>G)
c.*5166T>G (n.*5166T>G)
c.*2585T>G (n.*2585T>G)
c.4247T>G (p.Met1416Arg)
n.8074T>G
c.4613T>G (p.Met1538Arg)
c.3890T>G (p.Met1297Arg)
c.2441T>G (p.Met814Arg)
2g.165386837T=CA1304563769SCN2Ac.4643T= (p.Met1548=)
c.*2962T= (n.*2962T=)
c.*2630T= (n.*2630T=)
c.*5166T= (n.*5166T=)
c.*2585T= (n.*2585T=)
c.4247T= (p.Met1416=)
n.8074T=
c.4613T= (p.Met1538=)
c.3890T= (p.Met1297=)
c.2441T= (p.Met814=)
2g.165386838G>ACA349036355SCN2Ac.4644G>A (p.Met1548Ile)
c.*2963G>A (n.*2963G>A)
c.*2631G>A (n.*2631G>A)
c.*5167G>A (n.*5167G>A)
c.*2586G>A (n.*2586G>A)
c.4248G>A (p.Met1416Ile)
n.8075G>A
c.4614G>A (p.Met1538Ile)
c.3891G>A (p.Met1297Ile)
c.2442G>A (p.Met814Ile)
2g.165386838G>CCA349036356SCN2Ac.4644G>C (p.Met1548Ile)
c.*2963G>C (n.*2963G>C)
c.*2631G>C (n.*2631G>C)
c.*5167G>C (n.*5167G>C)
c.*2586G>C (n.*2586G>C)
c.4248G>C (p.Met1416Ile)
n.8075G>C
c.4614G>C (p.Met1538Ile)
c.3891G>C (p.Met1297Ile)
c.2442G>C (p.Met814Ile)
 ClinVar dbSNP
2g.165386838G=CA1304563770SCN2Ac.4644G= (p.Met1548=)
c.*2963G= (n.*2963G=)
c.*2631G= (n.*2631G=)
c.*5167G= (n.*5167G=)
c.*2586G= (n.*2586G=)
c.4248G= (p.Met1416=)
n.8075G=
c.4614G= (p.Met1538=)
c.3891G= (p.Met1297=)
c.2442G= (p.Met814=)
2g.165386838G>TCA349036357SCN2Ac.4644G>T (p.Met1548Ile)
c.*2963G>T (n.*2963G>T)
c.*2631G>T (n.*2631G>T)
c.*5167G>T (n.*5167G>T)
c.*2586G>T (n.*2586G>T)
c.4248G>T (p.Met1416Ile)
n.8075G>T
c.4614G>T (p.Met1538Ile)
c.3891G>T (p.Met1297Ile)
c.2442G>T (p.Met814Ile)
2g.165386839A>CCA349036358SCN2Ac.4645A>C (p.Met1549Leu)
c.*2964A>C (n.*2964A>C)
c.*2632A>C (n.*2632A>C)
c.*5168A>C (n.*5168A>C)
c.*2587A>C (n.*2587A>C)
c.4249A>C (p.Met1417Leu)
n.8076A>C
c.4615A>C (p.Met1539Leu)
c.3892A>C (p.Met1298Leu)
c.2443A>C (p.Met815Leu)
2g.165386839A>GCA349036359SCN2Ac.4645A>G (p.Met1549Val)
c.*2964A>G (n.*2964A>G)
c.*2632A>G (n.*2632A>G)
c.*5168A>G (n.*5168A>G)
c.*2587A>G (n.*2587A>G)
c.4249A>G (p.Met1417Val)
n.8076A>G
c.4615A>G (p.Met1539Val)
c.3892A>G (p.Met1298Val)
c.2443A>G (p.Met815Val)
2g.165386839A>TCA349036360SCN2Ac.4645A>T (p.Met1549Leu)
c.*2964A>T (n.*2964A>T)
c.*2632A>T (n.*2632A>T)
c.*5168A>T (n.*5168A>T)
c.*2587A>T (n.*2587A>T)
c.4249A>T (p.Met1417Leu)
n.8076A>T
c.4615A>T (p.Met1539Leu)
c.3892A>T (p.Met1298Leu)
c.2443A>T (p.Met815Leu)
2g.165386840T>ACA349036361SCN2Ac.4646T>A (p.Met1549Lys)
c.*2965T>A (n.*2965T>A)
c.*2633T>A (n.*2633T>A)
c.*5169T>A (n.*5169T>A)
c.*2588T>A (n.*2588T>A)
c.4250T>A (p.Met1417Lys)
n.8077T>A
c.4616T>A (p.Met1539Lys)
c.3893T>A (p.Met1298Lys)
c.2444T>A (p.Met815Lys)
2g.165386840T>CCA349036362SCN2Ac.4646T>C (p.Met1549Thr)
c.*2965T>C (n.*2965T>C)
c.*2633T>C (n.*2633T>C)
c.*5169T>C (n.*5169T>C)
c.*2588T>C (n.*2588T>C)
c.4250T>C (p.Met1417Thr)
n.8077T>C
c.4616T>C (p.Met1539Thr)
c.3893T>C (p.Met1298Thr)
c.2444T>C (p.Met815Thr)
2g.165386840T>GCA349036363SCN2Ac.4646T>G (p.Met1549Arg)
c.*2965T>G (n.*2965T>G)
c.*2633T>G (n.*2633T>G)
c.*5169T>G (n.*5169T>G)
c.*2588T>G (n.*2588T>G)
c.4250T>G (p.Met1417Arg)
n.8077T>G
c.4616T>G (p.Met1539Arg)
c.3893T>G (p.Met1298Arg)
c.2444T>G (p.Met815Arg)
2g.165386841G>ACA349036364SCN2Ac.4647G>A (p.Met1549Ile)
c.*2966G>A (n.*2966G>A)
c.*2634G>A (n.*2634G>A)
c.*5170G>A (n.*5170G>A)
c.*2589G>A (n.*2589G>A)
c.4251G>A (p.Met1417Ile)
n.8078G>A
c.4617G>A (p.Met1539Ile)
c.3894G>A (p.Met1298Ile)
c.2445G>A (p.Met815Ile)
2g.165386841G>CCA349036365SCN2Ac.4647G>C (p.Met1549Ile)
c.*2966G>C (n.*2966G>C)
c.*2634G>C (n.*2634G>C)
c.*5170G>C (n.*5170G>C)
c.*2589G>C (n.*2589G>C)
c.4251G>C (p.Met1417Ile)
n.8078G>C
c.4617G>C (p.Met1539Ile)
c.3894G>C (p.Met1298Ile)
c.2445G>C (p.Met815Ile)
2g.165386841G=CA1304563771SCN2Ac.4647G= (p.Met1549=)
c.*2966G= (n.*2966G=)
c.*2634G= (n.*2634G=)
c.*5170G= (n.*5170G=)
c.*2589G= (n.*2589G=)
c.4251G= (p.Met1417=)
n.8078G=
c.4617G= (p.Met1539=)
c.3894G= (p.Met1298=)
c.2445G= (p.Met815=)
2g.165386841G>TCA59750954SCN2Ac.4647G>T (p.Met1549Ile)
c.*2966G>T (n.*2966G>T)
c.*2634G>T (n.*2634G>T)
c.*5170G>T (n.*5170G>T)
c.*2589G>T (n.*2589G>T)
c.4251G>T (p.Met1417Ile)
n.8078G>T
c.4617G>T (p.Met1539Ile)
c.3894G>T (p.Met1298Ile)
c.2445G>T (p.Met815Ile)
 dbSNP
2g.165386842delCA2580064470SCN2Ac.4648del (p.Val1550TrpfsTer10)
c.*2967del (n.*2967del)
c.*2635del (n.*2635del)
c.*5171del (n.*5171del)
c.*2590del (n.*2590del)
c.4252del (p.Val1418TrpfsTer10)
n.8079del
c.4618del (p.Val1540TrpfsTer10)
c.3895del (p.Val1299TrpfsTer10)
c.2446del (p.Val816TrpfsTer10)
 ClinVar
2g.165386842G>ACA349036367SCN2Ac.4648G>A (p.Val1550Met)
c.*2967G>A (n.*2967G>A)
c.*2635G>A (n.*2635G>A)
c.*5171G>A (n.*5171G>A)
c.*2590G>A (n.*2590G>A)
c.4252G>A (p.Val1418Met)
n.8079G>A
c.4618G>A (p.Val1540Met)
c.3895G>A (p.Val1299Met)
c.2446G>A (p.Val816Met)
2g.165386842G>CCA349036368SCN2Ac.4648G>C (p.Val1550Leu)
c.*2967G>C (n.*2967G>C)
c.*2635G>C (n.*2635G>C)
c.*5171G>C (n.*5171G>C)
c.*2590G>C (n.*2590G>C)
c.4252G>C (p.Val1418Leu)
n.8079G>C
c.4618G>C (p.Val1540Leu)
c.3895G>C (p.Val1299Leu)
c.2446G>C (p.Val816Leu)
2g.165386842G>TCA349036366SCN2Ac.4648G>T (p.Val1550Leu)
c.*2967G>T (n.*2967G>T)
c.*2635G>T (n.*2635G>T)
c.*5171G>T (n.*5171G>T)
c.*2590G>T (n.*2590G>T)
c.4252G>T (p.Val1418Leu)
n.8079G>T
c.4618G>T (p.Val1540Leu)
c.3895G>T (p.Val1299Leu)
c.2446G>T (p.Val816Leu)
2g.165386843T>ACA349036369SCN2Ac.4649T>A (p.Val1550Glu)
c.*2968T>A (n.*2968T>A)
c.*2636T>A (n.*2636T>A)
c.*5172T>A (n.*5172T>A)
c.*2591T>A (n.*2591T>A)
c.4253T>A (p.Val1418Glu)
n.8080T>A
c.4619T>A (p.Val1540Glu)
c.3896T>A (p.Val1299Glu)
c.2447T>A (p.Val816Glu)
2g.165386843T>CCA349036370SCN2Ac.4649T>C (p.Val1550Ala)
c.*2968T>C (n.*2968T>C)
c.*2636T>C (n.*2636T>C)
c.*5172T>C (n.*5172T>C)
c.*2591T>C (n.*2591T>C)
c.4253T>C (p.Val1418Ala)
n.8080T>C
c.4619T>C (p.Val1540Ala)
c.3896T>C (p.Val1299Ala)
c.2447T>C (p.Val816Ala)
2g.165386843T>GCA349036371SCN2Ac.4649T>G (p.Val1550Gly)
c.*2968T>G (n.*2968T>G)
c.*2636T>G (n.*2636T>G)
c.*5172T>G (n.*5172T>G)
c.*2591T>G (n.*2591T>G)
c.4253T>G (p.Val1418Gly)
n.8080T>G
c.4619T>G (p.Val1540Gly)
c.3896T>G (p.Val1299Gly)
c.2447T>G (p.Val816Gly)
2g.165386844G>ACA429972583SCN2Ac.4650G>A (p.Val1550=)
c.*2969G>A (n.*2969G>A)
c.*2637G>A (n.*2637G>A)
c.*5173G>A (n.*5173G>A)
c.*2592G>A (n.*2592G>A)
c.4254G>A (p.Val1418=)
n.8081G>A
c.4620G>A (p.Val1540=)
c.3897G>A (p.Val1299=)
c.2448G>A (p.Val816=)
 gnomAD v4
2g.165386844G>CCA429972586SCN2Ac.4650G>C (p.Val1550=)
c.*2969G>C (n.*2969G>C)
c.*2637G>C (n.*2637G>C)
c.*5173G>C (n.*5173G>C)
c.*2592G>C (n.*2592G>C)
c.4254G>C (p.Val1418=)
n.8081G>C
c.4620G>C (p.Val1540=)
c.3897G>C (p.Val1299=)
c.2448G>C (p.Val816=)
2g.165386844G>TCA429972588SCN2Ac.4650G>T (p.Val1550=)
c.*2969G>T (n.*2969G>T)
c.*2637G>T (n.*2637G>T)
c.*5173G>T (n.*5173G>T)
c.*2592G>T (n.*2592G>T)
c.4254G>T (p.Val1418=)
n.8081G>T
c.4620G>T (p.Val1540=)
c.3897G>T (p.Val1299=)
c.2448G>T (p.Val816=)
2g.165386845G>ACA349036372SCN2Ac.4651G>A (p.Glu1551Lys)
c.*2970G>A (n.*2970G>A)
c.*2638G>A (n.*2638G>A)
c.*5174G>A (n.*5174G>A)
c.*2593G>A (n.*2593G>A)
c.4255G>A (p.Glu1419Lys)
n.8082G>A
c.4621G>A (p.Glu1541Lys)
c.3898G>A (p.Glu1300Lys)
c.2449G>A (p.Glu817Lys)
2g.165386845G>CCA349036373SCN2Ac.4651G>C (p.Glu1551Gln)
c.*2970G>C (n.*2970G>C)
c.*2638G>C (n.*2638G>C)
c.*5174G>C (n.*5174G>C)
c.*2593G>C (n.*2593G>C)
c.4255G>C (p.Glu1419Gln)
n.8082G>C
c.4621G>C (p.Glu1541Gln)
c.3898G>C (p.Glu1300Gln)
c.2449G>C (p.Glu817Gln)
2g.165386845G=CA1304563772SCN2Ac.4651G= (p.Glu1551=)
c.*2970G= (n.*2970G=)
c.*2638G= (n.*2638G=)
c.*5174G= (n.*5174G=)
c.*2593G= (n.*2593G=)
c.4255G= (p.Glu1419=)
n.8082G=
c.4621G= (p.Glu1541=)
c.3898G= (p.Glu1300=)
c.2449G= (p.Glu817=)
2g.165386845G>TCA349036374SCN2Ac.4651G>T (p.Glu1551Ter)
c.*2970G>T (n.*2970G>T)
c.*2638G>T (n.*2638G>T)
c.*5174G>T (n.*5174G>T)
c.*2593G>T (n.*2593G>T)
c.4255G>T (p.Glu1419Ter)
n.8082G>T
c.4621G>T (p.Glu1541Ter)
c.3898G>T (p.Glu1300Ter)
c.2449G>T (p.Glu817Ter)
 dbSNP
2g.165386846A>CCA349036375SCN2Ac.4652A>C (p.Glu1551Ala)
c.*2971A>C (n.*2971A>C)
c.*2639A>C (n.*2639A>C)
c.*5175A>C (n.*5175A>C)
c.*2594A>C (n.*2594A>C)
c.4256A>C (p.Glu1419Ala)
n.8083A>C
c.4622A>C (p.Glu1541Ala)
c.3899A>C (p.Glu1300Ala)
c.2450A>C (p.Glu817Ala)
 ClinVar
2g.165386846A>GCA349036376SCN2Ac.4652A>G (p.Glu1551Gly)
c.*2971A>G (n.*2971A>G)
c.*2639A>G (n.*2639A>G)
c.*5175A>G (n.*5175A>G)
c.*2594A>G (n.*2594A>G)
c.4256A>G (p.Glu1419Gly)
n.8083A>G
c.4622A>G (p.Glu1541Gly)
c.3899A>G (p.Glu1300Gly)
c.2450A>G (p.Glu817Gly)
2g.165386846A>TCA349036377SCN2Ac.4652A>T (p.Glu1551Val)
c.*2971A>T (n.*2971A>T)
c.*2639A>T (n.*2639A>T)
c.*5175A>T (n.*5175A>T)
c.*2594A>T (n.*2594A>T)
c.4256A>T (p.Glu1419Val)
n.8083A>T
c.4622A>T (p.Glu1541Val)
c.3899A>T (p.Glu1300Val)
c.2450A>T (p.Glu817Val)
2g.165386847A>CCA349036378SCN2Ac.4653A>C (p.Glu1551Asp)
c.*2972A>C (n.*2972A>C)
c.*2640A>C (n.*2640A>C)
c.*5176A>C (n.*5176A>C)
c.*2595A>C (n.*2595A>C)
c.4257A>C (p.Glu1419Asp)
n.8084A>C
c.4623A>C (p.Glu1541Asp)
c.3900A>C (p.Glu1300Asp)
c.2451A>C (p.Glu817Asp)
2g.165386847A>GCA429972594SCN2Ac.4653A>G (p.Glu1551=)
c.*2972A>G (n.*2972A>G)
c.*2640A>G (n.*2640A>G)
c.*5176A>G (n.*5176A>G)
c.*2595A>G (n.*2595A>G)
c.4257A>G (p.Glu1419=)
n.8084A>G
c.4623A>G (p.Glu1541=)
c.3900A>G (p.Glu1300=)
c.2451A>G (p.Glu817=)
2g.165386847A>TCA349036379SCN2Ac.4653A>T (p.Glu1551Asp)
c.*2972A>T (n.*2972A>T)
c.*2640A>T (n.*2640A>T)
c.*5176A>T (n.*5176A>T)
c.*2595A>T (n.*2595A>T)
c.4257A>T (p.Glu1419Asp)
n.8084A>T
c.4623A>T (p.Glu1541Asp)
c.3900A>T (p.Glu1300Asp)
c.2451A>T (p.Glu817Asp)
2g.165386848A>CCA349036380SCN2Ac.4654A>C (p.Thr1552Pro)
c.*2973A>C (n.*2973A>C)
c.*2641A>C (n.*2641A>C)
c.*5177A>C (n.*5177A>C)
c.*2596A>C (n.*2596A>C)
c.4258A>C (p.Thr1420Pro)
n.8085A>C
c.4624A>C (p.Thr1542Pro)
c.3901A>C (p.Thr1301Pro)
c.2452A>C (p.Thr818Pro)
2g.165386848A>GCA349036382SCN2Ac.4654A>G (p.Thr1552Ala)
c.*2973A>G (n.*2973A>G)
c.*2641A>G (n.*2641A>G)
c.*5177A>G (n.*5177A>G)
c.*2596A>G (n.*2596A>G)
c.4258A>G (p.Thr1420Ala)
n.8085A>G
c.4624A>G (p.Thr1542Ala)
c.3901A>G (p.Thr1301Ala)
c.2452A>G (p.Thr818Ala)
 ClinVar
2g.165386848A>TCA349036383SCN2Ac.4654A>T (p.Thr1552Ser)
c.*2973A>T (n.*2973A>T)
c.*2641A>T (n.*2641A>T)
c.*5177A>T (n.*5177A>T)
c.*2596A>T (n.*2596A>T)
c.4258A>T (p.Thr1420Ser)
n.8085A>T
c.4624A>T (p.Thr1542Ser)
c.3901A>T (p.Thr1301Ser)
c.2452A>T (p.Thr818Ser)
2g.165386849C>ACA349036388SCN2Ac.4655C>A (p.Thr1552Asn)
c.*2974C>A (n.*2974C>A)
c.*2642C>A (n.*2642C>A)
c.*5178C>A (n.*5178C>A)
c.*2597C>A (n.*2597C>A)
c.4259C>A (p.Thr1420Asn)
n.8086C>A
c.4625C>A (p.Thr1542Asn)
c.3902C>A (p.Thr1301Asn)
c.2453C>A (p.Thr818Asn)
2g.165386849C>GCA349036386SCN2Ac.4655C>G (p.Thr1552Ser)
c.*2974C>G (n.*2974C>G)
c.*2642C>G (n.*2642C>G)
c.*5178C>G (n.*5178C>G)
c.*2597C>G (n.*2597C>G)
c.4259C>G (p.Thr1420Ser)
n.8086C>G
c.4625C>G (p.Thr1542Ser)
c.3902C>G (p.Thr1301Ser)
c.2453C>G (p.Thr818Ser)
2g.165386849C>TCA349036385SCN2Ac.4655C>T (p.Thr1552Ile)
c.*2974C>T (n.*2974C>T)
c.*2642C>T (n.*2642C>T)
c.*5178C>T (n.*5178C>T)
c.*2597C>T (n.*2597C>T)
c.4259C>T (p.Thr1420Ile)
n.8086C>T
c.4625C>T (p.Thr1542Ile)
c.3902C>T (p.Thr1301Ile)
c.2453C>T (p.Thr818Ile)
 ClinVar
2g.165386850C>ACA429972599SCN2Ac.4656C>A (p.Thr1552=)
c.*2975C>A (n.*2975C>A)
c.*2643C>A (n.*2643C>A)
c.*5179C>A (n.*5179C>A)
c.*2598C>A (n.*2598C>A)
c.4260C>A (p.Thr1420=)
n.8087C>A
c.4626C>A (p.Thr1542=)
c.3903C>A (p.Thr1301=)
c.2454C>A (p.Thr818=)
 gnomAD v4 COSMIC COSMIC
2g.165386850C=CA1304563773SCN2Ac.4656C= (p.Thr1552=)
c.*2975C= (n.*2975C=)
c.*2643C= (n.*2643C=)
c.*5179C= (n.*5179C=)
c.*2598C= (n.*2598C=)
c.4260C= (p.Thr1420=)
n.8087C=
c.4626C= (p.Thr1542=)
c.3903C= (p.Thr1301=)
c.2454C= (p.Thr818=)
2g.165386850C>GCA1940312SCN2Ac.4656C>G (p.Thr1552=)
c.*2975C>G (n.*2975C>G)
c.*2643C>G (n.*2643C>G)
c.*5179C>G (n.*5179C>G)
c.*2598C>G (n.*2598C>G)
c.4260C>G (p.Thr1420=)
n.8087C>G
c.4626C>G (p.Thr1542=)
c.3903C>G (p.Thr1301=)
c.2454C>G (p.Thr818=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386850C>TCA1940313SCN2Ac.4656C>T (p.Thr1552=)
c.*2975C>T (n.*2975C>T)
c.*2643C>T (n.*2643C>T)
c.*5179C>T (n.*5179C>T)
c.*2598C>T (n.*2598C>T)
c.4260C>T (p.Thr1420=)
n.8087C>T
c.4626C>T (p.Thr1542=)
c.3903C>T (p.Thr1301=)
c.2454C>T (p.Thr818=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165386851G>ACA59750986SCN2Ac.4657G>A (p.Asp1553Asn)
c.*2976G>A (n.*2976G>A)
c.*2644G>A (n.*2644G>A)
c.*5180G>A (n.*5180G>A)
c.*2599G>A (n.*2599G>A)
c.4261G>A (p.Asp1421Asn)
n.8088G>A
c.4627G>A (p.Asp1543Asn)
c.3904G>A (p.Asp1302Asn)
c.2455G>A (p.Asp819Asn)
 ClinVar dbSNP gnomAD v4
2g.165386851G>CCA349036391SCN2Ac.4657G>C (p.Asp1553His)
c.*2976G>C (n.*2976G>C)
c.*2644G>C (n.*2644G>C)
c.*5180G>C (n.*5180G>C)
c.*2599G>C (n.*2599G>C)
c.4261G>C (p.Asp1421His)
n.8088G>C
c.4627G>C (p.Asp1543His)
c.3904G>C (p.Asp1302His)
c.2455G>C (p.Asp819His)

Number of alleles fetched