Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.159692741A>CCA366296185SOD2c.146T>G (p.Leu49Arg)
c.8T>G (p.Leu3Arg)
c.215T>G (p.Leu72Arg)
COSMIC
6g.159692741A>GCA366296189SOD2c.146T>C (p.Leu49Pro)
c.8T>C (p.Leu3Pro)
c.215T>C (p.Leu72Pro)
dbSNP
6g.159692741A>TCA366296187SOD2c.146T>A (p.Leu49Gln)
c.8T>A (p.Leu3Gln)
c.215T>A (p.Leu72Gln)
dbSNP
6g.159692742G>ACA4078394SOD2c.145C>T (p.Leu49=)
c.7C>T (p.Leu3=)
c.214C>T (p.Leu72=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692742G>CCA366296194SOD2c.145C>G (p.Leu49Val)
c.7C>G (p.Leu3Val)
c.214C>G (p.Leu72Val)
6g.159692742G=CA1676708811SOD2c.145C= (p.Leu49=)
c.7C= (p.Leu3=)
c.214C= (p.Leu72=)
6g.159692742G>TCA366296192SOD2c.145C>A (p.Leu49Met)
c.7C>A (p.Leu3Met)
c.214C>A (p.Leu72Met)
dbSNP gnomAD v2
6g.159692743C>ACA366296196SOD2c.144G>T (p.Gln48His)
c.6G>T (p.Gln2His)
c.213G>T (p.Gln71His)
dbSNP gnomAD v2
6g.159692743C=CA1676708812SOD2c.144G= (p.Gln48=)
c.6G= (p.Gln2=)
c.213G= (p.Gln71=)
6g.159692743C>GCA366296197SOD2c.144G>C (p.Gln48His)
c.6G>C (p.Gln2His)
c.213G>C (p.Gln71His)
6g.159692743C>TCA452985884SOD2c.144G>A (p.Gln48=)
c.6G>A (p.Gln2=)
c.213G>A (p.Gln71=)
6g.159692744T>ACA366296200SOD2c.143A>T (p.Gln48Leu)
c.5A>T (p.Gln2Leu)
c.212A>T (p.Gln71Leu)
6g.159692744T>CCA366296201SOD2c.143A>G (p.Gln48Arg)
c.5A>G (p.Gln2Arg)
c.212A>G (p.Gln71Arg)
6g.159692744T>GCA366296202SOD2c.143A>C (p.Gln48Pro)
c.5A>C (p.Gln2Pro)
c.212A>C (p.Gln71Pro)
6g.159692745G>ACA366296205SOD2c.142C>T (p.Gln48Ter)
c.4C>T (p.Gln2Ter)
c.211C>T (p.Gln71Ter)
dbSNP gnomAD v2 gnomAD v4
6g.159692745G>CCA366296207SOD2c.142C>G (p.Gln48Glu)
c.4C>G (p.Gln2Glu)
c.211C>G (p.Gln71Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.159692745G=CA1676708813SOD2c.142C= (p.Gln48=)
c.4C= (p.Gln2=)
c.211C= (p.Gln71=)
6g.159692745G>TCA366296208SOD2c.142C>A (p.Gln48Lys)
c.4C>A (p.Gln2Lys)
c.211C>A (p.Gln71Lys)
dbSNP
6g.159692746C>ACA366296211SOD2c.141G>T (p.Met47Ile)
c.3G>T (p.Met1Ile)
c.210G>T (p.Met70Ile)
6g.159692746C>GCA366296213SOD2c.141G>C (p.Met47Ile)
c.3G>C (p.Met1Ile)
c.210G>C (p.Met70Ile)
6g.159692746C>TCA366296215SOD2c.141G>A (p.Met47Ile)
c.3G>A (p.Met1Ile)
c.210G>A (p.Met70Ile)
6g.159692747A=CA1676708814SOD2c.140T= (p.Met47=)
c.2T= (p.Met1=)
c.209T= (p.Met70=)
6g.159692747A>CCA4078395SOD2c.140T>G (p.Met47Arg)
c.2T>G (p.Met1Arg)
c.209T>G (p.Met70Arg)
dbSNP ExAC gnomAD v2
6g.159692747A>GCA366296219SOD2c.140T>C (p.Met47Thr)
c.2T>C (p.Met1Thr)
c.209T>C (p.Met70Thr)
dbSNP
6g.159692747A>TCA366296217SOD2c.140T>A (p.Met47Lys)
c.2T>A (p.Met1Lys)
c.209T>A (p.Met70Lys)
6g.159692748T>ACA366296222SOD2c.139A>T (p.Met47Leu)
c.1A>T (p.Met1Leu)
c.208A>T (p.Met70Leu)
6g.159692748T>CCA366296224SOD2c.139A>G (p.Met47Val)
c.1A>G (p.Met1Val)
c.208A>G (p.Met70Val)
dbSNP gnomAD v3 gnomAD v4
6g.159692748T>GCA366296226SOD2c.139A>C (p.Met47Leu)
c.1A>C (p.Met1Leu)
c.208A>C (p.Met70Leu)
dbSNP gnomAD v3 gnomAD v4
6g.159692748T=CA1676708815SOD2c.139A= (p.Met47=)
c.1A= (p.Met1=)
c.208A= (p.Met70=)
6g.159692749G>ACA452863550SOD2c.138C>T (p.Ile46=)
c.-1C>T (n.-1C>T)
c.207C>T (p.Ile69=)
COSMIC
6g.159692749G>CCA366296227SOD2c.138C>G (p.Ile46Met)
c.-1C>G (n.-1C>G)
c.207C>G (p.Ile69Met)
6g.159692749G>TCA452863551SOD2c.138C>A (p.Ile46=)
c.-1C>A (n.-1C>A)
c.207C>A (p.Ile69=)
6g.159692750A=CA1676708816SOD2c.137T= (p.Ile46=)
c.-2T= (n.-2T=)
c.206T= (p.Ile69=)
6g.159692750A>CCA366296229SOD2c.137T>G (p.Ile46Ser)
c.-2T>G (n.-2T>G)
c.206T>G (p.Ile69Ser)
6g.159692750A>GCA151086764SOD2c.137T>C (p.Ile46Thr)
c.-2T>C (n.-2T>C)
c.206T>C (p.Ile69Thr)
dbSNP gnomAD v2 gnomAD v4
6g.159692750A>TCA366296231SOD2c.137T>A (p.Ile46Asn)
c.-2T>A (n.-2T>A)
c.206T>A (p.Ile69Asn)
dbSNP gnomAD v4
6g.159692751T>ACA366296234SOD2c.136A>T (p.Ile46Phe)
c.-3A>T (n.-3A>T)
c.205A>T (p.Ile69Phe)
6g.159692751T>CCA366296236SOD2c.136A>G (p.Ile46Val)
c.-3A>G (n.-3A>G)
c.205A>G (p.Ile69Val)
6g.159692751T>GCA366296237SOD2c.136A>C (p.Ile46Leu)
c.-3A>C (n.-3A>C)
c.205A>C (p.Ile69Leu)
6g.159692751_159692752insTTCA2553661738SOD2c.136_137insAA (p.Ile46LysfsTer15)
c.-3_-2insAA (n.-3_-2insAA)
c.205_206insAA (p.Ile69LysfsTer15)
6g.159692752_159692753dupCA2549270916SOD2c.135_136dup (p.Ile46ArgfsTer15)
c.-4_-3dup (n.-4_-3dup)
c.204_205dup (p.Ile69ArgfsTer15)
6g.159692752_159692753delCA1096477350SOD2c.135_136del (p.Gln45HisfsTer?)
c.-4_-3del (n.-4_-3del)
c.204_205del (p.Gln68HisfsTer?)
gnomAD v3 gnomAD v4
6g.159692752C>ACA366296239SOD2c.135G>T (p.Gln45His)
c.-4G>T (n.-4G>T)
c.204G>T (p.Gln68His)
6g.159692752C=CA1676708817SOD2c.135G= (p.Gln45=)
c.-4G= (n.-4G=)
c.204G= (p.Gln68=)
6g.159692752C>GCA366296241SOD2c.135G>C (p.Gln45His)
c.-4G>C (n.-4G>C)
c.204G>C (p.Gln68His)
dbSNP
6g.159692752C>TCA452863552SOD2c.135G>A (p.Gln45=)
c.-4G>A (n.-4G>A)
c.204G>A (p.Gln68=)
dbSNP
6g.159692753T>ACA366296246SOD2c.134A>T (p.Gln45Leu)
c.-5A>T (n.-5A>T)
c.203A>T (p.Gln68Leu)
dbSNP gnomAD v2
6g.159692753T>CCA366296245SOD2c.134A>G (p.Gln45Arg)
c.-5A>G (n.-5A>G)
c.203A>G (p.Gln68Arg)
dbSNP gnomAD v4
6g.159692753T>GCA366296243SOD2c.134A>C (p.Gln45Pro)
c.-5A>C (n.-5A>C)
c.203A>C (p.Gln68Pro)
gnomAD v3 gnomAD v4
6g.159692753T=CA1676708818SOD2c.134A= (p.Gln45=)
c.-5A= (n.-5A=)
c.203A= (p.Gln68=)
6g.159692753_159692754insCTGCA2567159140SOD2c.133_134insCAG (p.Gln45delinsProGlu)
c.-6_-5insCAG (n.-6_-5insCAG)
c.202_203insCAG (p.Gln68delinsProGlu)
6g.159692754G>ACA366296248SOD2c.133C>T (p.Gln45Ter)
c.-6C>T (n.-6C>T)
c.202C>T (p.Gln68Ter)
dbSNP gnomAD v4
6g.159692754G>CCA366296250SOD2c.133C>G (p.Gln45Glu)
c.-6C>G (n.-6C>G)
c.202C>G (p.Gln68Glu)
dbSNP gnomAD v2 gnomAD v4
6g.159692754G=CA1676708819SOD2c.133C= (p.Gln45=)
c.-6C= (n.-6C=)
c.202C= (p.Gln68=)
6g.159692754G>TCA366296252SOD2c.133C>A (p.Gln45Lys)
c.-6C>A (n.-6C>A)
c.202C>A (p.Gln68Lys)
dbSNP gnomAD v3 gnomAD v4
6g.159692755C>ACA151086768SOD2c.132G>T (p.Ala44=)
c.-7G>T (n.-7G>T)
c.201G>T (p.Ala67=)
dbSNP
6g.159692755C=CA1676708820SOD2c.132G= (p.Ala44=)
c.-7G= (n.-7G=)
c.201G= (p.Ala67=)
6g.159692755C>GCA452863553SOD2c.132G>C (p.Ala44=)
c.-7G>C (n.-7G>C)
c.201G>C (p.Ala67=)
dbSNP
6g.159692755C>TCA452863554SOD2c.132G>A (p.Ala44=)
c.-7G>A (n.-7G>A)
c.201G>A (p.Ala67=)
dbSNP gnomAD v2 gnomAD v4
6g.159692756delCA2543108651SOD2c.131del (p.Ala44GlyfsTer16)
c.-8del (n.-8del)
c.200del (p.Ala67GlyfsTer16)
6g.159692756G>ACA366296256SOD2c.131C>T (p.Ala44Val)
c.-8C>T (n.-8C>T)
c.200C>T (p.Ala67Val)
dbSNP
6g.159692756G>CCA4078396SOD2c.131C>G (p.Ala44Gly)
c.-8C>G (n.-8C>G)
c.200C>G (p.Ala67Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692756G=CA1676708821SOD2c.131C= (p.Ala44=)
c.-8C= (n.-8C=)
c.200C= (p.Ala67=)
6g.159692756G>TCA366296257SOD2c.131C>A (p.Ala44Glu)
c.-8C>A (n.-8C>A)
c.200C>A (p.Ala67Glu)
gnomAD v4
6g.159692756_159692757insACCA2537708151SOD2c.130_131insGT (p.Ala44GlyfsTer17)
c.-9_-8insGT (n.-9_-8insGT)
c.199_200insGT (p.Ala67GlyfsTer17)
6g.159692757C>ACA366296259SOD2c.130G>T (p.Ala44Ser)
c.-9G>T (n.-9G>T)
c.199G>T (p.Ala67Ser)
dbSNP gnomAD v2
6g.159692757C=CA1676708822SOD2c.130G= (p.Ala44=)
c.-9G= (n.-9G=)
c.199G= (p.Ala67=)
6g.159692757C>GCA366296261SOD2c.130G>C (p.Ala44Pro)
c.-9G>C (n.-9G>C)
c.199G>C (p.Ala67Pro)
dbSNP
6g.159692757C>TCA366296263SOD2c.130G>A (p.Ala44Thr)
c.-9G>A (n.-9G>A)
c.199G>A (p.Ala67Thr)
dbSNP
6g.159692757_159692758insCCCA2555508679SOD2c.130_131insGG (p.Ala44GlyfsTer17)
c.-9_-8insGG (n.-9_-8insGG)
c.199_200insGG (p.Ala67GlyfsTer17)
6g.159692758G>ACA4078397SOD2c.129C>T (p.Asn43=)
c.-10C>T (n.-10C>T)
c.198C>T (p.Asn66=)
dbSNP ExAC gnomAD v2
6g.159692758G>CCA366296267SOD2c.129C>G (p.Asn43Lys)
c.-10C>G (n.-10C>G)
c.198C>G (p.Asn66Lys)
dbSNP
6g.159692758G=CA1676708823SOD2c.129C= (p.Asn43=)
c.-10C= (n.-10C=)
c.198C= (p.Asn66=)
6g.159692758G>TCA366296268SOD2c.129C>A (p.Asn43Lys)
c.-10C>A (n.-10C>A)
c.198C>A (p.Asn66Lys)
6g.159692758_159692759delCA2559176633SOD2c.128_129del (p.Asn43SerfsTer?)
c.-11_-10del (n.-11_-10del)
c.197_198del (p.Asn66SerfsTer?)
6g.159692759_159692761delCA2543626439SOD2c.127_129del (p.Asn43del)
c.-12_-10del (n.-12_-10del)
c.196_198del (p.Asn66del)
6g.159692759T>ACA366296274SOD2c.128A>T (p.Asn43Ile)
c.-11A>T (n.-11A>T)
c.197A>T (p.Asn66Ile)
dbSNP
6g.159692759T>CCA366296271SOD2c.128A>G (p.Asn43Ser)
c.-11A>G (n.-11A>G)
c.197A>G (p.Asn66Ser)
dbSNP gnomAD v3 gnomAD v4
6g.159692759T>GCA366296273SOD2c.128A>C (p.Asn43Thr)
c.-11A>C (n.-11A>C)
c.197A>C (p.Asn66Thr)
dbSNP gnomAD v4
6g.159692759_159692760delCA2680994541SOD2c.127_128del (p.Asn43ArgfsTer?)
c.-12_-11del (n.-12_-11del)
c.196_197del (p.Asn66ArgfsTer?)
gnomAD v4
6g.159692760T>ACA366296277SOD2c.127A>T (p.Asn43Tyr)
c.-12A>T (n.-12A>T)
c.196A>T (p.Asn66Tyr)
dbSNP
6g.159692760T>CCA366296279SOD2c.127A>G (p.Asn43Asp)
c.-12A>G (n.-12A>G)
c.196A>G (p.Asn66Asp)
dbSNP gnomAD v2
6g.159692760T>GCA366296281SOD2c.127A>C (p.Asn43His)
c.-12A>C (n.-12A>C)
c.196A>C (p.Asn66His)
6g.159692760T=CA1676708824SOD2c.127A= (p.Asn43=)
c.-12A= (n.-12A=)
c.196A= (p.Asn66=)
6g.159692761G>ACA452863561SOD2c.126C>T (p.Ile42=)
c.-13C>T (n.-13C>T)
c.195C>T (p.Ile65=)
dbSNP
6g.159692761G>CCA366296283SOD2c.126C>G (p.Ile42Met)
c.-13C>G (n.-13C>G)
c.195C>G (p.Ile65Met)
gnomAD v4
6g.159692761G=CA1676708825SOD2c.126C= (p.Ile42=)
c.-13C= (n.-13C=)
c.195C= (p.Ile65=)
6g.159692761G>TCA452863560SOD2c.126C>A (p.Ile42=)
c.-13C>A (n.-13C>A)
c.195C>A (p.Ile65=)
6g.159692762A>CCA366296284SOD2c.125T>G (p.Ile42Ser)
c.-14T>G (n.-14T>G)
c.194T>G (p.Ile65Ser)
6g.159692762A>GCA366296286SOD2c.125T>C (p.Ile42Thr)
c.-14T>C (n.-14T>C)
c.194T>C (p.Ile65Thr)
dbSNP
6g.159692762A>TCA366296288SOD2c.125T>A (p.Ile42Asn)
c.-14T>A (n.-14T>A)
c.194T>A (p.Ile65Asn)
6g.159692762_159692763insAACA2539620196SOD2c.125_126insTT (p.Asn43SerfsTer18)
c.-14_-13insTT (n.-14_-13insTT)
c.194_195insTT (p.Asn66SerfsTer18)
gnomAD v4
6g.159692763T>ACA366296290SOD2c.124A>T (p.Ile42Phe)
c.-15A>T (n.-15A>T)
c.193A>T (p.Ile65Phe)
6g.159692763T>CCA366296292SOD2c.124A>G (p.Ile42Val)
c.-15A>G (n.-15A>G)
c.193A>G (p.Ile65Val)
gnomAD v4
6g.159692763T>GCA366296294SOD2c.124A>C (p.Ile42Leu)
c.-15A>C (n.-15A>C)
c.193A>C (p.Ile65Leu)
6g.159692764G>ACA452863565SOD2c.123C>T (p.His41=)
c.-16C>T (n.-16C>T)
c.192C>T (p.His64=)
dbSNP gnomAD v4
6g.159692764G>CCA366296296SOD2c.123C>G (p.His41Gln)
c.-16C>G (n.-16C>G)
c.192C>G (p.His64Gln)
6g.159692764G>TCA366296297SOD2c.123C>A (p.His41Gln)
c.-16C>A (n.-16C>A)
c.192C>A (p.His64Gln)
6g.159692765T>ACA366296300SOD2c.122A>T (p.His41Leu)
c.-17A>T (n.-17A>T)
c.191A>T (p.His64Leu)
6g.159692765T>CCA366296303SOD2c.122A>G (p.His41Arg)
c.-17A>G (n.-17A>G)
c.191A>G (p.His64Arg)
dbSNP gnomAD v2 gnomAD v4
6g.159692765T>GCA366296299SOD2c.122A>C (p.His41Pro)
c.-17A>C (n.-17A>C)
c.191A>C (p.His64Pro)
6g.159692765T=CA1676708826SOD2c.122A= (p.His41=)
c.-17A= (n.-17A=)
c.191A= (p.His64=)
6g.159692766G>ACA366296307SOD2c.121C>T (p.His41Tyr)
c.-18C>T (n.-18C>T)
c.190C>T (p.His64Tyr)
6g.159692766G>CCA366296305SOD2c.121C>G (p.His41Asp)
c.-18C>G (n.-18C>G)
c.190C>G (p.His64Asp)
6g.159692766G>TCA366296309SOD2c.121C>A (p.His41Asn)
c.-18C>A (n.-18C>A)
c.190C>A (p.His64Asn)
6g.159692766_159692767insTCA2713605505SOD2c.120_121insA (p.His41ThrfsTer?)
c.-19_-18insA (n.-19_-18insA)
c.189_190insA (p.His64ThrfsTer?)
dbSNP
6g.159692767A=CA1676708827SOD2c.120T= (p.Pro40=)
c.-19T= (n.-19T=)
c.189T= (p.Pro63=)
6g.159692767A>CCA452863569SOD2c.120T>G (p.Pro40=)
c.-19T>G (n.-19T>G)
c.189T>G (p.Pro63=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.159692767A>GCA452863567SOD2c.120T>C (p.Pro40=)
c.-19T>C (n.-19T>C)
c.189T>C (p.Pro63=)
6g.159692767A>TCA452863568SOD2c.120T>A (p.Pro40=)
c.-19T>A (n.-19T>A)
c.189T>A (p.Pro63=)
dbSNP
6g.159692768G>ACA366296311SOD2c.119C>T (p.Pro40Leu)
c.-20C>T (n.-20C>T)
c.188C>T (p.Pro63Leu)
dbSNP
6g.159692768G>CCA366296314SOD2c.119C>G (p.Pro40Arg)
c.-20C>G (n.-20C>G)
c.188C>G (p.Pro63Arg)
gnomAD v4
6g.159692768G>TCA366296313SOD2c.119C>A (p.Pro40His)
c.-20C>A (n.-20C>A)
c.188C>A (p.Pro63His)
6g.159692769G>ACA366296315SOD2c.118C>T (p.Pro40Ser)
c.-21C>T (n.-21C>T)
c.187C>T (p.Pro63Ser)
6g.159692769G>CCA366296319SOD2c.118C>G (p.Pro40Ala)
c.-21C>G (n.-21C>G)
c.187C>G (p.Pro63Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.159692769G=CA1676708828SOD2c.118C= (p.Pro40=)
c.-21C= (n.-21C=)
c.187C= (p.Pro63=)
6g.159692769G>TCA366296317SOD2c.118C>A (p.Pro40Thr)
c.-21C>A (n.-21C>A)
c.187C>A (p.Pro63Thr)
6g.159692770T>ACA366296321SOD2c.117A>T (p.Glu39Asp)
c.-22A>T (n.-22A>T)
c.186A>T (p.Glu62Asp)
6g.159692770T>CCA452863571SOD2c.117A>G (p.Glu39=)
c.-22A>G (n.-22A>G)
c.186A>G (p.Glu62=)
dbSNP gnomAD v3 gnomAD v4
6g.159692770T>GCA4078398SOD2c.117A>C (p.Glu39Asp)
c.-22A>C (n.-22A>C)
c.186A>C (p.Glu62Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692770T=CA1676708829SOD2c.117A= (p.Glu39=)
c.-22A= (n.-22A=)
c.186A= (p.Glu62=)
6g.159692771T>ACA366296325SOD2c.116A>T (p.Glu39Val)
c.-23A>T (n.-23A>T)
c.185A>T (p.Glu62Val)
6g.159692771T>CCA366296327SOD2c.116A>G (p.Glu39Gly)
c.-23A>G (n.-23A>G)
c.185A>G (p.Glu62Gly)
6g.159692771T>GCA366296329SOD2c.116A>C (p.Glu39Ala)
c.-23A>C (n.-23A>C)
c.185A>C (p.Glu62Ala)
6g.159692772C>ACA366296334SOD2c.115G>T (p.Glu39Ter)
c.-24G>T (n.-24G>T)
c.184G>T (p.Glu62Ter)
6g.159692772C=CA1676708830SOD2c.115G= (p.Glu39=)
c.-24G= (n.-24G=)
c.184G= (p.Glu62=)
6g.159692772C>GCA366296332SOD2c.115G>C (p.Glu39Gln)
c.-24G>C (n.-24G>C)
c.184G>C (p.Glu62Gln)
6g.159692772C>TCA151086771SOD2c.115G>A (p.Glu39Lys)
c.-24G>A (n.-24G>A)
c.184G>A (p.Glu62Lys)
dbSNP gnomAD v3 gnomAD v4
6g.159692773C>ACA452863577SOD2c.114G>T (p.Leu38=)
c.-25G>T (n.-25G>T)
c.183G>T (p.Leu61=)
dbSNP
6g.159692773C>GCA452863575SOD2c.114G>C (p.Leu38=)
c.-25G>C (n.-25G>C)
c.183G>C (p.Leu61=)
gnomAD v3 gnomAD v4
6g.159692773C>TCA452863576SOD2c.114G>A (p.Leu38=)
c.-25G>A (n.-25G>A)
c.183G>A (p.Leu61=)
dbSNP
6g.159692774A=CA1676708831SOD2c.113T= (p.Leu38=)
c.-26T= (n.-26T=)
c.182T= (p.Leu61=)
6g.159692774A>CCA366296336SOD2c.113T>G (p.Leu38Arg)
c.-26T>G (n.-26T>G)
c.182T>G (p.Leu61Arg)
6g.159692774A>GCA366296338SOD2c.113T>C (p.Leu38Pro)
c.-26T>C (n.-26T>C)
c.182T>C (p.Leu61Pro)
dbSNP
6g.159692774A>TCA151086775SOD2c.113T>A (p.Leu38Gln)
c.-26T>A (n.-26T>A)
c.182T>A (p.Leu61Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.159692775G>ACA452863579SOD2c.112C>T (p.Leu38=)
c.-27C>T (n.-27C>T)
c.181C>T (p.Leu61=)
dbSNP gnomAD v2
6g.159692775G>CCA366296342SOD2c.112C>G (p.Leu38Val)
c.-27C>G (n.-27C>G)
c.181C>G (p.Leu61Val)
6g.159692775G=CA1676708832SOD2c.112C= (p.Leu38=)
c.-27C= (n.-27C=)
c.181C= (p.Leu61=)
6g.159692775G>TCA366296344SOD2c.112C>A (p.Leu38Met)
c.-27C>A (n.-27C>A)
c.181C>A (p.Leu61Met)
6g.159692776_159692777delCA2512121762SOD2c.111_112del (p.Leu38GlyfsTer?)
c.-28_-27del (n.-28_-27del)
c.180_181del (p.Leu61GlyfsTer?)
gnomAD v4
6g.159692776G>ACA452863580SOD2c.111C>T (p.Ala37=)
c.-28C>T (n.-28C>T)
c.180C>T (p.Ala60=)
dbSNP
6g.159692776G>CCA4078399SOD2c.111C>G (p.Ala37=)
c.-28C>G (n.-28C>G)
c.180C>G (p.Ala60=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692776G=CA1676708833SOD2c.111C= (p.Ala37=)
c.-28C= (n.-28C=)
c.180C= (p.Ala60=)
6g.159692776G>TCA452863581SOD2c.111C>A (p.Ala37=)
c.-28C>A (n.-28C>A)
c.180C>A (p.Ala60=)
dbSNP
6g.159692777G>ACA366296347SOD2c.110C>T (p.Ala37Val)
c.-29C>T (n.-29C>T)
c.179C>T (p.Ala60Val)
dbSNP gnomAD v4
6g.159692777G>CCA366296351SOD2c.110C>G (p.Ala37Gly)
c.-29C>G (n.-29C>G)
c.179C>G (p.Ala60Gly)
6g.159692777G=CA1676708834SOD2c.110C= (p.Ala37=)
c.-29C= (n.-29C=)
c.179C= (p.Ala60=)
6g.159692777G>TCA366296349SOD2c.110C>A (p.Ala37Asp)
c.-29C>A (n.-29C>A)
c.179C>A (p.Ala60Asp)
gnomAD v4
6g.159692778C>ACA366296353SOD2c.109G>T (p.Ala37Ser)
c.-30G>T (n.-30G>T)
c.178G>T (p.Ala60Ser)
dbSNP
6g.159692778C>GCA366296355SOD2c.109G>C (p.Ala37Pro)
c.-30G>C (n.-30G>C)
c.178G>C (p.Ala60Pro)
6g.159692778C>TCA366296357SOD2c.109G>A (p.Ala37Thr)
c.-30G>A (n.-30G>A)
c.178G>A (p.Ala60Thr)
dbSNP gnomAD v4
6g.159692779G>ACA452863583SOD2c.108C>T (p.Gly36=)
c.-31C>T (n.-31C>T)
c.177C>T (p.Gly59=)
dbSNP gnomAD v2 gnomAD v4
6g.159692779G>CCA452863584SOD2c.108C>G (p.Gly36=)
c.-31C>G (n.-31C>G)
c.177C>G (p.Gly59=)
dbSNP
6g.159692779G=CA1676708835SOD2c.108C= (p.Gly36=)
c.-31C= (n.-31C=)
c.177C= (p.Gly59=)
6g.159692779G>TCA452863585SOD2c.108C>A (p.Gly36=)
c.-31C>A (n.-31C>A)
c.177C>A (p.Gly59=)
gnomAD v4
6g.159692780C>ACA366296359SOD2c.107G>T (p.Gly36Val)
c.-32G>T (n.-32G>T)
c.176G>T (p.Gly59Val)
6g.159692780C=CA1676708836SOD2c.107G= (p.Gly36=)
c.-32G= (n.-32G=)
c.176G= (p.Gly59=)
6g.159692780C>GCA366296361SOD2c.107G>C (p.Gly36Ala)
c.-32G>C (n.-32G>C)
c.176G>C (p.Gly59Ala)
gnomAD v3 gnomAD v4
6g.159692780C>TCA366296363SOD2c.107G>A (p.Gly36Asp)
c.-32G>A (n.-32G>A)
c.176G>A (p.Gly59Asp)
dbSNP gnomAD v2
6g.159692780_159692781insATCA2512131274SOD2c.106_107insAT (p.Gly36AspfsTer25)
c.-33_-32insAT (n.-33_-32insAT)
c.175_176insAT (p.Gly59AspfsTer25)
6g.159692780_159692781insTGCA2680994542SOD2c.106_107insCA (p.Gly36AlafsTer25)
c.-33_-32insCA (n.-33_-32insCA)
c.175_176insCA (p.Gly59AlafsTer25)
gnomAD v4
6g.159692781C>ACA366296365SOD2c.106G>T (p.Gly36Cys)
c.-33G>T (n.-33G>T)
c.175G>T (p.Gly59Cys)
dbSNP gnomAD v3 gnomAD v4
6g.159692781C=CA1676708837SOD2c.106G= (p.Gly36=)
c.-33G= (n.-33G=)
c.175G= (p.Gly59=)
6g.159692781C>GCA366296367SOD2c.106G>C (p.Gly36Arg)
c.-33G>C (n.-33G>C)
c.175G>C (p.Gly59Arg)
dbSNP
6g.159692781C>TCA151086799SOD2c.106G>A (p.Gly36Ser)
c.-33G>A (n.-33G>A)
c.175G>A (p.Gly59Ser)
dbSNP
6g.159692782G>ACA151086800SOD2c.105C>T (p.Tyr35=)
c.-34C>T (n.-34C>T)
c.174C>T (p.Tyr58=)
dbSNP
6g.159692782G>CCA366296369SOD2c.105C>G (p.Tyr35Ter)
c.-34C>G (n.-34C>G)
c.174C>G (p.Tyr58Ter)
6g.159692782G=CA1676708838SOD2c.105C= (p.Tyr35=)
c.-34C= (n.-34C=)
c.174C= (p.Tyr58=)
6g.159692782G>TCA366296371SOD2c.105C>A (p.Tyr35Ter)
c.-34C>A (n.-34C>A)
c.174C>A (p.Tyr58Ter)
dbSNP
6g.159692783T>ACA366296373SOD2c.104A>T (p.Tyr35Phe)
c.-35A>T (n.-35A>T)
c.173A>T (p.Tyr58Phe)
6g.159692783T>CCA366296377SOD2c.104A>G (p.Tyr35Cys)
c.-35A>G (n.-35A>G)
c.173A>G (p.Tyr58Cys)
dbSNP gnomAD v2 gnomAD v4
6g.159692783T>GCA366296375SOD2c.104A>C (p.Tyr35Ser)
c.-35A>C (n.-35A>C)
c.173A>C (p.Tyr58Ser)
dbSNP
6g.159692783T=CA1676708839SOD2c.104A= (p.Tyr35=)
c.-35A= (n.-35A=)
c.173A= (p.Tyr58=)
6g.159692784A=CA1676708840SOD2c.103T= (p.Tyr35=)
c.-36T= (n.-36T=)
c.172T= (p.Tyr58=)
6g.159692784A>CCA366296378SOD2c.103T>G (p.Tyr35Asp)
c.-36T>G (n.-36T>G)
c.172T>G (p.Tyr58Asp)
6g.159692784A>GCA366296380SOD2c.103T>C (p.Tyr35His)
c.-36T>C (n.-36T>C)
c.172T>C (p.Tyr58His)
dbSNP
6g.159692784A>TCA366296382SOD2c.103T>A (p.Tyr35Asn)
c.-36T>A (n.-36T>A)
c.172T>A (p.Tyr58Asn)
dbSNP gnomAD v2 gnomAD v4
6g.159692785G>ACA452863588SOD2c.102C>T (p.Asp34=)
c.-37C>T (n.-37C>T)
c.171C>T (p.Asp57=)
dbSNP
6g.159692785G>CCA366296384SOD2c.102C>G (p.Asp34Glu)
c.-37C>G (n.-37C>G)
c.171C>G (p.Asp57Glu)
6g.159692785G>TCA366296385SOD2c.102C>A (p.Asp34Glu)
c.-37C>A (n.-37C>A)
c.171C>A (p.Asp57Glu)
6g.159692786delCA2680994543SOD2c.101del (p.Asp34AlafsTer26)
c.-38del (n.-38del)
c.170del (p.Asp57AlafsTer26)
gnomAD v4
6g.159692786T>ACA366296388SOD2c.101A>T (p.Asp34Val)
c.-38A>T (n.-38A>T)
c.170A>T (p.Asp57Val)
dbSNP
6g.159692786T>CCA366296390SOD2c.101A>G (p.Asp34Gly)
c.-38A>G (n.-38A>G)
c.170A>G (p.Asp57Gly)
dbSNP
6g.159692786T>GCA366296391SOD2c.101A>C (p.Asp34Ala)
c.-38A>C (n.-38A>C)
c.170A>C (p.Asp57Ala)
dbSNP gnomAD v2
6g.159692786T=CA1676708841SOD2c.101A= (p.Asp34=)
c.-38A= (n.-38A=)
c.170A= (p.Asp57=)
6g.159692787C>ACA366296394SOD2c.100G>T (p.Asp34Tyr)
c.-39G>T (n.-39G>T)
c.169G>T (p.Asp57Tyr)
dbSNP gnomAD v2
6g.159692787C=CA1676708842SOD2c.100G= (p.Asp34=)
c.-39G= (n.-39G=)
c.169G= (p.Asp57=)
6g.159692787C>GCA366296396SOD2c.100G>C (p.Asp34His)
c.-39G>C (n.-39G>C)
c.169G>C (p.Asp57His)
dbSNP
6g.159692787C>TCA366296397SOD2c.100G>A (p.Asp34Asn)
c.-39G>A (n.-39G>A)
c.169G>A (p.Asp57Asn)
dbSNP
6g.159692788G>ACA452863592SOD2c.99C>T (p.Tyr33=)
c.-40C>T (n.-40C>T)
c.168C>T (p.Tyr56=)
dbSNP
6g.159692788G>CCA366296402SOD2c.99C>G (p.Tyr33Ter)
c.-40C>G (n.-40C>G)
c.168C>G (p.Tyr56Ter)
6g.159692788G>TCA366296400SOD2c.99C>A (p.Tyr33Ter)
c.-40C>A (n.-40C>A)
c.168C>A (p.Tyr56Ter)
gnomAD v4
6g.159692789T>ACA366296403SOD2c.98A>T (p.Tyr33Phe)
c.-41A>T (n.-41A>T)
c.167A>T (p.Tyr56Phe)
dbSNP
6g.159692789T>CCA366296405SOD2c.98A>G (p.Tyr33Cys)
c.-41A>G (n.-41A>G)
c.167A>G (p.Tyr56Cys)
6g.159692789T>GCA366296406SOD2c.98A>C (p.Tyr33Ser)
c.-41A>C (n.-41A>C)
c.167A>C (p.Tyr56Ser)
dbSNP
6g.159692790A>CCA366296407SOD2c.97T>G (p.Tyr33Asp)
c.-42T>G (n.-42T>G)
c.166T>G (p.Tyr56Asp)
6g.159692790A>GCA366296409SOD2c.97T>C (p.Tyr33His)
c.-42T>C (n.-42T>C)
c.166T>C (p.Tyr56His)
6g.159692790A>TCA366296411SOD2c.97T>A (p.Tyr33Asn)
c.-42T>A (n.-42T>A)
c.166T>A (p.Tyr56Asn)
6g.159692791G>ACA452863593SOD2c.96C>T (p.Pro32=)
c.-43C>T (n.-43C>T)
c.165C>T (p.Pro55=)
dbSNP gnomAD v3 gnomAD v4
6g.159692791G>CCA452863594SOD2c.96C>G (p.Pro32=)
c.-43C>G (n.-43C>G)
c.165C>G (p.Pro55=)
6g.159692791G=CA1676708843SOD2c.96C= (p.Pro32=)
c.-43C= (n.-43C=)
c.165C= (p.Pro55=)
6g.159692791G>TCA452863595SOD2c.96C>A (p.Pro32=)
c.-43C>A (n.-43C>A)
c.165C>A (p.Pro55=)
6g.159692791_159692792insTCGAGATCGCA2550452975SOD2c.96_97insGATCTCGAC (p.Pro32_Tyr33insAspLeuAsp)
c.-43_-42insGATCTCGAC (n.-43_-42insGATCTCGAC)
c.165_166insGATCTCGAC (p.Pro55_Tyr56insAspLeuAsp)
6g.159692791_159692792insTCCA2571301689SOD2c.95_96insGA (p.Tyr33ThrfsTer28)
c.-44_-43insGA (n.-44_-43insGA)
c.164_165insGA (p.Tyr56ThrfsTer28)
6g.159692792G>ACA366296413SOD2c.95C>T (p.Pro32Leu)
c.-44C>T (n.-44C>T)
c.164C>T (p.Pro55Leu)
gnomAD v4
6g.159692792G>CCA4078400SOD2c.95C>G (p.Pro32Arg)
c.-44C>G (n.-44C>G)
c.164C>G (p.Pro55Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.159692792G=CA1676708844SOD2c.95C= (p.Pro32=)
c.-44C= (n.-44C=)
c.164C= (p.Pro55=)
6g.159692792G>TCA366296416SOD2c.95C>A (p.Pro32His)
c.-44C>A (n.-44C>A)
c.164C>A (p.Pro55His)
6g.159692793G>ACA4078401SOD2c.94C>T (p.Pro32Ser)
c.-45C>T (n.-45C>T)
c.163C>T (p.Pro55Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692793G>CCA366296419SOD2c.94C>G (p.Pro32Ala)
c.-45C>G (n.-45C>G)
c.163C>G (p.Pro55Ala)
6g.159692793G=CA1676708845SOD2c.94C= (p.Pro32=)
c.-45C= (n.-45C=)
c.163C= (p.Pro55=)
6g.159692793G>TCA366296421SOD2c.94C>A (p.Pro32Thr)
c.-45C>A (n.-45C>A)
c.163C>A (p.Pro55Thr)
dbSNP
6g.159692793_159692794delCA2512052282SOD2c.93_94del (p.Pro32LeufsTer?)
c.-46_-45del (n.-46_-45del)
c.162_163del (p.Pro55LeufsTer?)
6g.159692794C>ACA452863597SOD2c.93G>T (p.Leu31=)
c.-46G>T (n.-46G>T)
c.162G>T (p.Leu54=)
gnomAD v4
6g.159692794C>GCA452863602SOD2c.93G>C (p.Leu31=)
c.-46G>C (n.-46G>C)
c.162G>C (p.Leu54=)
dbSNP
6g.159692794C>TCA452863599SOD2c.93G>A (p.Leu31=)
c.-46G>A (n.-46G>A)
c.162G>A (p.Leu54=)
dbSNP
6g.159692795A>CCA366296425SOD2c.92T>G (p.Leu31Arg)
c.-47T>G (n.-47T>G)
c.161T>G (p.Leu54Arg)
6g.159692795A>GCA366296427SOD2c.92T>C (p.Leu31Pro)
c.-47T>C (n.-47T>C)
c.161T>C (p.Leu54Pro)
6g.159692795A>TCA366296423SOD2c.92T>A (p.Leu31Gln)
c.-47T>A (n.-47T>A)
c.161T>A (p.Leu54Gln)
6g.159692796G>ACA452863606SOD2c.91C>T (p.Leu31=)
c.-48C>T (n.-48C>T)
c.160C>T (p.Leu54=)
dbSNP gnomAD v3 gnomAD v4
6g.159692796G>CCA366296430SOD2c.91C>G (p.Leu31Val)
c.-48C>G (n.-48C>G)
c.160C>G (p.Leu54Val)
6g.159692796G=CA1676708846SOD2c.91C= (p.Leu31=)
c.-48C= (n.-48C=)
c.160C= (p.Leu54=)
6g.159692796G>TCA366296429SOD2c.91C>A (p.Leu31Met)
c.-48C>A (n.-48C>A)
c.160C>A (p.Leu54Met)
6g.159692797G>ACA452863610SOD2c.90C>T (p.Asp30=)
c.-49C>T (n.-49C>T)
c.159C>T (p.Asp53=)
dbSNP gnomAD v3 gnomAD v4
6g.159692797G>CCA366296433SOD2c.90C>G (p.Asp30Glu)
c.-49C>G (n.-49C>G)
c.159C>G (p.Asp53Glu)
COSMIC
6g.159692797G=CA1676708847SOD2c.90C= (p.Asp30=)
c.-49C= (n.-49C=)
c.159C= (p.Asp53=)
6g.159692797G>TCA4078402SOD2c.90C>A (p.Asp30Glu)
c.-49C>A (n.-49C>A)
c.159C>A (p.Asp53Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692797_159692798insACGTAGGTCACA2499963868SOD2c.89_90insTGACCTACGT (p.Leu31AspfsTer?)
c.-50_-49insTGACCTACGT (n.-50_-49insTGACCTACGT)
c.158_159insTGACCTACGT (p.Leu54AspfsTer?)
6g.159692798T>ACA366296436SOD2c.89A>T (p.Asp30Val)
c.-50A>T (n.-50A>T)
c.158A>T (p.Asp53Val)
dbSNP
6g.159692798T>CCA366296438SOD2c.89A>G (p.Asp30Gly)
c.-50A>G (n.-50A>G)
c.158A>G (p.Asp53Gly)
dbSNP
6g.159692798T>GCA366296439SOD2c.89A>C (p.Asp30Ala)
c.-50A>C (n.-50A>C)
c.158A>C (p.Asp53Ala)
dbSNP
6g.159692799C>ACA366296441SOD2c.88G>T (p.Asp30Tyr)
c.-51G>T (n.-51G>T)
c.157G>T (p.Asp53Tyr)
6g.159692799C>GCA366296443SOD2c.88G>C (p.Asp30His)
c.-51G>C (n.-51G>C)
c.157G>C (p.Asp53His)
6g.159692799C>TCA366296444SOD2c.88G>A (p.Asp30Asn)
c.-51G>A (n.-51G>A)
c.157G>A (p.Asp53Asn)
dbSNP
6g.159692800G>ACA452863615SOD2c.87C>T (p.Pro29=)
c.-52C>T (n.-52C>T)
c.156C>T (p.Pro52=)
dbSNP gnomAD v3 gnomAD v4
6g.159692800G>CCA452863616SOD2c.87C>G (p.Pro29=)
c.-52C>G (n.-52C>G)
c.156C>G (p.Pro52=)
6g.159692800G=CA1676708848SOD2c.87C= (p.Pro29=)
c.-52C= (n.-52C=)
c.156C= (p.Pro52=)
6g.159692800G>TCA452863617SOD2c.87C>A (p.Pro29=)
c.-52C>A (n.-52C>A)
c.156C>A (p.Pro52=)
dbSNP
6g.159692801G>ACA366296446SOD2c.86C>T (p.Pro29Leu)
c.-53C>T (n.-53C>T)
c.155C>T (p.Pro52Leu)
dbSNP
6g.159692801G>CCA366296448SOD2c.86C>G (p.Pro29Arg)
c.-53C>G (n.-53C>G)
c.155C>G (p.Pro52Arg)
6g.159692801G>TCA366296450SOD2c.86C>A (p.Pro29His)
c.-53C>A (n.-53C>A)
c.155C>A (p.Pro52His)
6g.159692802_159692803insACTCCTCGGTTCGGCA2525138647SOD2c.86_87insGAACCGAGGAGTCC (p.Asp30AsnfsTer?)
c.-53_-52insGAACCGAGGAGTCC (n.-53_-52insGAACCGAGGAGTCC)
c.155_156insGAACCGAGGAGTCC (p.Asp53AsnfsTer?)
6g.159692802G>ACA366296456SOD2c.85C>T (p.Pro29Ser)
c.-54C>T (n.-54C>T)
c.154C>T (p.Pro52Ser)
dbSNP
6g.159692802G>CCA366296452SOD2c.85C>G (p.Pro29Ala)
c.-54C>G (n.-54C>G)
c.154C>G (p.Pro52Ala)
6g.159692802G>TCA366296454SOD2c.85C>A (p.Pro29Thr)
c.-54C>A (n.-54C>A)
c.154C>A (p.Pro52Thr)
dbSNP
6g.159692802_159692803insAACA2514244547SOD2c.84_85insTT (p.Pro29PhefsTer?)
c.-55_-54insTT (n.-55_-54insTT)
c.153_154insTT (p.Pro52PhefsTer?)
6g.159692802_159692803insCAGGGTGTAGACGGTCATCA2773769783SOD2c.84_85insATGACCGTCTACACCCTG (p.Leu28_Pro29insMetThrValTyrThrLeu)
c.-55_-54insATGACCGTCTACACCCTG (n.-55_-54insATGACCGTCTACACCCTG)
c.153_154insATGACCGTCTACACCCTG (p.Leu51_Pro52insMetThrValTyrThrLeu)
6g.159692802_159692803insAAGTACGTATTTCTTGGCCATAAAAACTATCA2532269477SOD2c.84_85insATAGTTTTTATGGCCAAGAAATACGTACTT (p.Leu28_Pro29insIleValPheMetAlaLysLysTyrValLeu)
c.-55_-54insATAGTTTTTATGGCCAAGAAATACGTACTT (n.-55_-54insATAGTTTTTATGGCCAAGAAATACGTACTT)
c.153_154insATAGTTTTTATGGCCAAGAAATACGTACTT (p.Leu51_Pro52insIleValPheMetAlaLysLysTyrValLeu)
6g.159692802_159692803insCAGAGTGTAGACGGTCATGATGCTCCTCCTGGGCGTCGTCATATAGCTGTTGACTCCAAGGGTAGTACTTTAGTCCCGGCTTGCGAAGAGGTTGTGTGTCACCTTTCGCGGATCGCGATCAACGACCA2530948192SOD2c.84_85insGTCGTTGATCGCGATCCGCGAAAGGTGACACACAACCTCTTCGCAAGCCGGGACTAAAGTACTACCCTTGGAGTCAACAGCTATATGACGACGCCCAGGAGGAGCATCATGACCGTCTACACTCTG
c.-55_-54insGTCGTTGATCGCGATCCGCGAAAGGTGACACACAACCTCTTCGCAAGCCGGGACTAAAGTACTACCCTTGGAGTCAACAGCTATATGACGACGCCCAGGAGGAGCATCATGACCGTCTACACTCTG (n.-55_-54insGTCGTTGATCGCGATCCGCGAAAGGTGACACACAACCTCTTCGCAAGCCGGGACTAAAGTACTACCCTTGGAGTCAACAGCTATATGACGACGCCCAGGAGGAGCATCATGACCGTCTACACTCTG)
c.153_154insGTCGTTGATCGCGATCCGCGAAAGGTGACACACAACCTCTTCGCAAGCCGGGACTAAAGTACTACCCTTGGAGTCAACAGCTATATGACGACGCCCAGGAGGAGCATCATGACCGTCTACACTCTG
6g.159692803G>ACA452863625SOD2c.84C>T (p.Leu28=)
c.-55C>T (n.-55C>T)
c.153C>T (p.Leu51=)
dbSNP gnomAD v3 gnomAD v4
6g.159692803G>CCA452863629SOD2c.84C>G (p.Leu28=)
c.-55C>G (n.-55C>G)
c.153C>G (p.Leu51=)
dbSNP gnomAD v2 gnomAD v4
6g.159692803G=CA1676708849SOD2c.84C= (p.Leu28=)
c.-55C= (n.-55C=)
c.153C= (p.Leu51=)
6g.159692803G>TCA452863630SOD2c.84C>A (p.Leu28=)
c.-55C>A (n.-55C>A)
c.153C>A (p.Leu51=)
gnomAD v4
6g.159692803_159692804insTACGTATTTCTTGGCCATAAAAACTATGATCCTTTCCTAATGGGTGTTTCTAGCCATGATCA2545055867SOD2c.83_84insATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu29SerfsTer12)
c.-56_-55insATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (n.-56_-55insATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA)
c.152_153insATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu52SerfsTer12)
6g.159692804A>CCA366296459SOD2c.83T>G (p.Leu28Arg)
c.-56T>G (n.-56T>G)
c.152T>G (p.Leu51Arg)
6g.159692804A>GCA366296460SOD2c.83T>C (p.Leu28Pro)
c.-56T>C (n.-56T>C)
c.152T>C (p.Leu51Pro)
dbSNP
6g.159692804A>TCA366296462SOD2c.83T>A (p.Leu28His)
c.-56T>A (n.-56T>A)
c.152T>A (p.Leu51His)
dbSNP gnomAD v4
6g.159692804_159692805insCACGCCA2518676425SOD2c.82_83insGCGTG (p.Leu28ArgfsTer?)
c.-57_-56insGCGTG (n.-57_-56insGCGTG)
c.151_152insGCGTG (p.Leu51ArgfsTer?)
6g.159692804_159692805insTCCTTTCCTAATCA2526683629SOD2c.82_83insATTAGGAAAGGA (p.Leu28HisfsTer2)
c.-57_-56insATTAGGAAAGGA (n.-57_-56insATTAGGAAAGGA)
c.151_152insATTAGGAAAGGA (p.Leu51HisfsTer2)
6g.159692804_159692805insTCCTTTCCTAATGGGTGTTTCTAGCCATGATAGCA2523914379SOD2c.82_83insCTATCATGGCTAGAAACACCCATTAGGAAAGGA (p.Leu28ProfsTer9)
c.-57_-56insCTATCATGGCTAGAAACACCCATTAGGAAAGGA (n.-57_-56insCTATCATGGCTAGAAACACCCATTAGGAAAGGA)
c.151_152insCTATCATGGCTAGAAACACCCATTAGGAAAGGA (p.Leu51ProfsTer9)
6g.159692805G>ACA366296465SOD2c.82C>T (p.Leu28Phe)
c.-57C>T (n.-57C>T)
c.151C>T (p.Leu51Phe)
gnomAD v4
6g.159692805G>CCA366296466SOD2c.82C>G (p.Leu28Val)
c.-57C>G (n.-57C>G)
c.151C>G (p.Leu51Val)
6g.159692805G>TCA366296468SOD2c.82C>A (p.Leu28Ile)
c.-57C>A (n.-57C>A)
c.151C>A (p.Leu51Ile)
6g.159692805_159692806insTACGTATTTCTTGCA2503576229SOD2c.82_83insAAGAAATACGTAC (p.Leu28GlnfsTer?)
c.-57_-56insAAGAAATACGTAC (n.-57_-56insAAGAAATACGTAC)
c.151_152insAAGAAATACGTAC (p.Leu51GlnfsTer?)
6g.159692805_159692806insTACATATTTCTTGGCCATAAAAACTATGATCCTTTCCTAATGGGTGTTTCTAGCCATGATAGGCA2524016907SOD2c.82_83insCTATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATATGTAC (p.Leu28ProfsTer9)
c.-57_-56insCTATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATATGTAC (n.-57_-56insCTATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATATGTAC)
c.151_152insCTATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATATGTAC (p.Leu51ProfsTer9)
6g.159692805_159692806insTACGTATTTCTTGGCCATAAAAACTATGATCCTTTCCTAATCA2529351382SOD2c.81_82insATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu28IlefsTer6)
c.-58_-57insATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (n.-58_-57insATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA)
c.150_151insATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu51IlefsTer6)
6g.159692805_159692806insTACGTATTTCTTGGCCATAAAAACTATGATCCTTTCCTAATGGGTGTTTCTACA2506019738SOD2c.81_82insTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu28Ter)
c.-58_-57insTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (n.-58_-57insTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA)
c.150_151insTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu51Ter)
6g.159692806G>ACA4078404SOD2c.81C>T (p.Ser27=)
c.-58C>T (n.-58C>T)
c.150C>T (p.Ser50=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692806G>CCA366296471SOD2c.81C>G (p.Ser27Arg)
c.-58C>G (n.-58C>G)
c.150C>G (p.Ser50Arg)
6g.159692806G=CA1676708850SOD2c.81C= (p.Ser27=)
c.-58C= (n.-58C=)
c.150C= (p.Ser50=)
6g.159692806G>TCA4078403SOD2c.81C>A (p.Ser27Arg)
c.-58C>A (n.-58C>A)
c.150C>A (p.Ser50Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692806_159692807insTCA2773769784SOD2c.80_81insA (p.Ser27ArgfsTer?)
c.-59_-58insA (n.-59_-58insA)
c.149_150insA (p.Ser50ArgfsTer?)
6g.159692807C>ACA366296475SOD2c.80G>T (p.Ser27Ile)
c.-59G>T (n.-59G>T)
c.149G>T (p.Ser50Ile)
dbSNP
6g.159692807C>GCA366296477SOD2c.80G>C (p.Ser27Thr)
c.-59G>C (n.-59G>C)
c.149G>C (p.Ser50Thr)
dbSNP
6g.159692807C>TCA366296479SOD2c.80G>A (p.Ser27Asn)
c.-59G>A (n.-59G>A)
c.149G>A (p.Ser50Asn)
dbSNP gnomAD v4
6g.159692807_159692808insCATAAAAACTACA2563080268SOD2c.79_80insTAGTTTTTATG (p.Ser27IlefsTer?)
c.-60_-59insTAGTTTTTATG (n.-60_-59insTAGTTTTTATG)
c.148_149insTAGTTTTTATG (p.Ser50IlefsTer?)
6g.159692808T>ACA366296483SOD2c.79A>T (p.Ser27Cys)
c.-60A>T (n.-60A>T)
c.148A>T (p.Ser50Cys)
dbSNP
6g.159692808T>CCA366296485SOD2c.79A>G (p.Ser27Gly)
c.-60A>G (n.-60A>G)
c.148A>G (p.Ser50Gly)
dbSNP COSMIC
6g.159692808T>GCA366296481SOD2c.79A>C (p.Ser27Arg)
c.-60A>C (n.-60A>C)
c.148A>C (p.Ser50Arg)
dbSNP
6g.159692808_159692809insCCTTTGGGGCGTCCA2773769785SOD2c.78_79insGACGCCCCAAAGG (p.Ser27AspfsTer?)
c.-61_-60insGACGCCCCAAAGG (n.-61_-60insGACGCCCCAAAGG)
c.147_148insGACGCCCCAAAGG (p.Ser50AspfsTer?)
6g.159692809G>ACA452863643SOD2c.78C>T (p.His26=)
c.-61C>T (n.-61C>T)
c.147C>T (p.His49=)
gnomAD v4
6g.159692809G>CCA366296487SOD2c.78C>G (p.His26Gln)
c.-61C>G (n.-61C>G)
c.147C>G (p.His49Gln)
6g.159692809G>TCA366296489SOD2c.78C>A (p.His26Gln)
c.-61C>A (n.-61C>A)
c.147C>A (p.His49Gln)
6g.159692809_159692810insATCCTTTCCTAATGGGTGTTTCTAGCCACA2569437405SOD2c.77_78insTGGCTAGAAACACCCATTAGGAAAGGAT (p.Ser27GlyfsTer2)
c.-62_-61insTGGCTAGAAACACCCATTAGGAAAGGAT (n.-62_-61insTGGCTAGAAACACCCATTAGGAAAGGAT)
c.146_147insTGGCTAGAAACACCCATTAGGAAAGGAT (p.Ser50GlyfsTer2)
6g.159692810T>ACA366296491SOD2c.77A>T (p.His26Leu)
c.-62A>T (n.-62A>T)
c.146A>T (p.His49Leu)
dbSNP
6g.159692810T>CCA366296493SOD2c.77A>G (p.His26Arg)
c.-62A>G (n.-62A>G)
c.146A>G (p.His49Arg)
6g.159692810T>GCA366296495SOD2c.77A>C (p.His26Pro)
c.-62A>C (n.-62A>C)
c.146A>C (p.His49Pro)
dbSNP
6g.159692811G>ACA4078405SOD2c.76C>T (p.His26Tyr)
c.-63C>T (n.-63C>T)
c.145C>T (p.His49Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.159692811G>CCA366296498SOD2c.76C>G (p.His26Asp)
c.-63C>G (n.-63C>G)
c.145C>G (p.His49Asp)
6g.159692811G=CA1676708851SOD2c.76C= (p.His26=)
c.-63C= (n.-63C=)
c.145C= (p.His49=)
6g.159692811G>TCA366296500SOD2c.76C>A (p.His26Asn)
c.-63C>A (n.-63C>A)
c.145C>A (p.His49Asn)
dbSNP
6g.159692812C>ACA366296501SOD2c.75G>T (p.Lys25Asn)
c.-64G>T (n.-64G>T)
c.144G>T (p.Lys48Asn)
COSMIC
6g.159692812C>GCA366296502SOD2c.75G>C (p.Lys25Asn)
c.-64G>C (n.-64G>C)
c.144G>C (p.Lys48Asn)
dbSNP
6g.159692812C>TCA452863648SOD2c.75G>A (p.Lys25=)
c.-64G>A (n.-64G>A)
c.144G>A (p.Lys48=)
dbSNP
6g.159692813T>ACA366296505SOD2c.74A>T (p.Lys25Met)
c.-65A>T (n.-65A>T)
c.143A>T (p.Lys48Met)
6g.159692813T>CCA366296507SOD2c.74A>G (p.Lys25Arg)
c.-65A>G (n.-65A>G)
c.143A>G (p.Lys48Arg)
6g.159692813T>GCA366296508SOD2c.74A>C (p.Lys25Thr)
c.-65A>C (n.-65A>C)
c.143A>C (p.Lys48Thr)
6g.159692814T>ACA366296514SOD2c.73A>T (p.Lys25Ter)
c.-66A>T (n.-66A>T)
c.142A>T (p.Lys48Ter)
6g.159692814T>CCA366296513SOD2c.73A>G (p.Lys25Glu)
c.-66A>G (n.-66A>G)
c.142A>G (p.Lys48Glu)
dbSNP
6g.159692814T>GCA366296511SOD2c.73A>C (p.Lys25Gln)
c.-66A>C (n.-66A>C)
c.142A>C (p.Lys48Gln)
6g.159692815C>ACA366296516SOD2c.72G>T (p.Gln24His)
c.-67G>T (n.-67G>T)
c.141G>T (p.Gln47His)
dbSNP
6g.159692815C=CA1676708852SOD2c.72G= (p.Gln24=)
c.-67G= (n.-67G=)
c.141G= (p.Gln47=)
6g.159692815C>GCA366296518SOD2c.72G>C (p.Gln24His)
c.-67G>C (n.-67G>C)
c.141G>C (p.Gln47His)
dbSNP
6g.159692815C>TCA452863651SOD2c.72G>A (p.Gln24=)
c.-67G>A (n.-67G>A)
c.141G>A (p.Gln47=)
dbSNP
6g.159692816T>ACA366296522SOD2c.71A>T (p.Gln24Leu)
c.-68A>T (n.-68A>T)
c.140A>T (p.Gln47Leu)
gnomAD v4
6g.159692816T>CCA366296523SOD2c.71A>G (p.Gln24Arg)
c.-68A>G (n.-68A>G)
c.140A>G (p.Gln47Arg)
dbSNP
6g.159692816T>GCA366296525SOD2c.71A>C (p.Gln24Pro)
c.-68A>C (n.-68A>C)
c.140A>C (p.Gln47Pro)
gnomAD v4
6g.159692816T=CA1676708853SOD2c.71A= (p.Gln24=)
c.-68A= (n.-68A=)
c.140A= (p.Gln47=)
6g.159692816dupCA4078406SOD2c.71dup (p.Lys25GlufsTer?)
c.-68dup (n.-68dup)
c.140dup (p.Lys48GlufsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.159692817G>ACA366296528SOD2c.70C>T (p.Gln24Ter)
c.-69C>T (n.-69C>T)
c.139C>T (p.Gln47Ter)
dbSNP gnomAD v4
6g.159692817G>CCA366296530SOD2c.70C>G (p.Gln24Glu)
c.-69C>G (n.-69C>G)
c.139C>G (p.Gln47Glu)
6g.159692817G=CA1676708854SOD2c.70C= (p.Gln24=)
c.-69C= (n.-69C=)
c.139C= (p.Gln47=)
6g.159692817G>TCA366296532SOD2c.70C>A (p.Gln24Lys)
c.-69C>A (n.-69C>A)
c.139C>A (p.Gln47Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.159692818C>ACA366296534SOD2c.69G>T (p.Arg23Ser)
c.-70G>T (n.-70G>T)
c.138G>T (p.Arg46Ser)
6g.159692818C=CA1676708855SOD2c.69G= (p.Arg23=)
c.-70G= (n.-70G=)
c.138G= (p.Arg46=)
6g.159692818C>GCA366296536SOD2c.69G>C (p.Arg23Ser)
c.-70G>C (n.-70G>C)
c.138G>C (p.Arg46Ser)
dbSNP
6g.159692818C>TCA452863656SOD2c.69G>A (p.Arg23=)
c.-70G>A (n.-70G>A)
c.138G>A (p.Arg46=)
dbSNP gnomAD v2 gnomAD v4
6g.159692819C>ACA366296539SOD2c.68G>T (p.Arg23Met)
c.-71G>T (n.-71G>T)
c.137G>T (p.Arg46Met)
dbSNP gnomAD v2 gnomAD v4
6g.159692819C=CA1676708856SOD2c.68G= (p.Arg23=)
c.-71G= (n.-71G=)
c.137G= (p.Arg46=)
6g.159692819C>GCA366296540SOD2c.68G>C (p.Arg23Thr)
c.-71G>C (n.-71G>C)
c.137G>C (p.Arg46Thr)
6g.159692819C>TCA4078407SOD2c.68G>A (p.Arg23Lys)
c.-71G>A (n.-71G>A)
c.137G>A (p.Arg46Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.159692820T>ACA366296543SOD2c.67A>T (p.Arg23Trp)
c.-72A>T (n.-72A>T)
c.136A>T (p.Arg46Trp)
6g.159692820T>CCA4078408SOD2c.67A>G (p.Arg23Gly)
c.-72A>G (n.-72A>G)
c.136A>G (p.Arg46Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.159692820T>GCA452863658SOD2c.67A>C (p.Arg23=)
c.-72A>C (n.-72A>C)
c.136A>C (p.Arg46=)
dbSNP gnomAD v2 gnomAD v4
6g.159692820T=CA1676708857SOD2c.67A= (p.Arg23=)
c.-72A= (n.-72A=)
c.136A= (p.Arg46=)
6g.159692821G>ACA452863660SOD2c.66C>T (p.Ser22=)
c.-73C>T (n.-73C>T)
c.135C>T (p.Ser45=)
dbSNP gnomAD v2
6g.159692821G>CCA452863663SOD2c.66C>G (p.Ser22=)
c.-73C>G (n.-73C>G)
c.135C>G (p.Ser45=)
6g.159692821G=CA1676708858SOD2c.66C= (p.Ser22=)
c.-73C= (n.-73C=)
c.135C= (p.Ser45=)
6g.159692821G>TCA452863662SOD2c.66C>A (p.Ser22=)
c.-73C>A (n.-73C>A)
c.135C>A (p.Ser45=)
6g.159692822G>ACA366296546SOD2c.65C>T (p.Ser22Phe)
c.-74C>T (n.-74C>T)
c.134C>T (p.Ser45Phe)
6g.159692822G>CCA366296550SOD2c.65C>G (p.Ser22Cys)
c.-74C>G (n.-74C>G)
c.134C>G (p.Ser45Cys)
6g.159692822G>TCA366296547SOD2c.65C>A (p.Ser22Tyr)
c.-74C>A (n.-74C>A)
c.134C>A (p.Ser45Tyr)
gnomAD v4
6g.159692823A=CA1676708859SOD2c.64T= (p.Ser22=)
c.-75T= (n.-75T=)
c.133T= (p.Ser45=)
6g.159692823A>CCA366296552SOD2c.64T>G (p.Ser22Ala)
c.-75T>G (n.-75T>G)
c.133T>G (p.Ser45Ala)
6g.159692823A>GCA366296556SOD2c.64T>C (p.Ser22Pro)
c.-75T>C (n.-75T>C)
c.133T>C (p.Ser45Pro)
dbSNP gnomAD v4
6g.159692823A>TCA366296553SOD2c.64T>A (p.Ser22Thr)
c.-75T>A (n.-75T>A)
c.133T>A (p.Ser45Thr)
dbSNP
6g.159692824G>ACA4078409SOD2c.63C>T (p.Gly21=)
c.-76C>T (n.-76C>T)
c.132C>T (p.Gly44=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692824G>CCA452863667SOD2c.63C>G (p.Gly21=)
c.-76C>G (n.-76C>G)
c.132C>G (p.Gly44=)
dbSNP gnomAD v2 gnomAD v4
6g.159692824G=CA1676708860SOD2c.63C= (p.Gly21=)
c.-76C= (n.-76C=)
c.132C= (p.Gly44=)
6g.159692824G>TCA452863668SOD2c.63C>A (p.Gly21=)
c.-76C>A (n.-76C>A)
c.132C>A (p.Gly44=)
6g.159692825C>ACA366296559SOD2c.62G>T (p.Gly21Val)
c.-77G>T (n.-77G>T)
c.131G>T (p.Gly44Val)
gnomAD v4
6g.159692825C=CA1676708861SOD2c.62G= (p.Gly21=)
c.-77G= (n.-77G=)
c.131G= (p.Gly44=)
6g.159692825C>GCA366296561SOD2c.62G>C (p.Gly21Ala)
c.-77G>C (n.-77G>C)
c.131G>C (p.Gly44Ala)
dbSNP
6g.159692825C>TCA366296563SOD2c.62G>A (p.Gly21Asp)
c.-77G>A (n.-77G>A)
c.131G>A (p.Gly44Asp)
dbSNP gnomAD v2 gnomAD v4
6g.159692827delCA2680994544SOD2c.62del (p.Gly21AlafsTer?)
c.-77del (n.-77del)
c.131del (p.Gly44AlafsTer?)
gnomAD v4
6g.159692826C>ACA366296565SOD2c.61G>T (p.Gly21Cys)
c.-78G>T (n.-78G>T)
c.130G>T (p.Gly44Cys)
dbSNP
6g.159692826C>GCA366296566SOD2c.61G>C (p.Gly21Arg)
c.-78G>C (n.-78G>C)
c.130G>C (p.Gly44Arg)
6g.159692826C>TCA366296568SOD2c.61G>A (p.Gly21Ser)
c.-78G>A (n.-78G>A)
c.130G>A (p.Gly44Ser)
dbSNP gnomAD v3 gnomAD v4
6g.159692827C>ACA452863672SOD2c.60G>T (p.Leu20=)
c.-79G>T (n.-79G>T)
c.129G>T (p.Leu43=)
6g.159692827C=CA1676708862SOD2c.60G= (p.Leu20=)
c.-79G= (n.-79G=)
c.129G= (p.Leu43=)
6g.159692827C>GCA452863674SOD2c.60G>C (p.Leu20=)
c.-79G>C (n.-79G>C)
c.129G>C (p.Leu43=)
6g.159692827C>TCA4078410SOD2c.60G>A (p.Leu20=)
c.-79G>A (n.-79G>A)
c.129G>A (p.Leu43=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692828A=CA1676708863SOD2c.59T= (p.Leu20=)
c.-80T= (n.-80T=)
c.128T= (p.Leu43=)
6g.159692828A>CCA366296570SOD2c.59T>G (p.Leu20Arg)
c.-80T>G (n.-80T>G)
c.128T>G (p.Leu43Arg)
dbSNP
6g.159692828A>GCA4078411SOD2c.59T>C (p.Leu20Pro)
c.-80T>C (n.-80T>C)
c.128T>C (p.Leu43Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692828A>TCA366296573SOD2c.59T>A (p.Leu20Gln)
c.-80T>A (n.-80T>A)
c.128T>A (p.Leu43Gln)
dbSNP
6g.159692829G>ACA452863680SOD2c.58C>T (p.Leu20=)
c.-81C>T (n.-81C>T)
c.127C>T (p.Leu43=)
dbSNP gnomAD v2 gnomAD v4
6g.159692829G>CCA366296578SOD2c.58C>G (p.Leu20Val)
c.-81C>G (n.-81C>G)
c.127C>G (p.Leu43Val)
dbSNP
6g.159692829G=CA1676708864SOD2c.58C= (p.Leu20=)
c.-81C= (n.-81C=)
c.127C= (p.Leu43=)
6g.159692829G>TCA366296576SOD2c.58C>A (p.Leu20Met)
c.-81C>A (n.-81C>A)
c.127C>A (p.Leu43Met)
6g.159692830A>CCA366296580SOD2c.57T>G (p.Tyr19Ter)
c.-82T>G (n.-82T>G)
c.126T>G (p.Tyr42Ter)
dbSNP
6g.159692830A>GCA452863681SOD2c.57T>C (p.Tyr19=)
c.-82T>C (n.-82T>C)
c.126T>C (p.Tyr42=)
6g.159692830A>TCA366296581SOD2c.57T>A (p.Tyr19Ter)
c.-82T>A (n.-82T>A)
c.126T>A (p.Tyr42Ter)
dbSNP
6g.159692831T>ACA366296583SOD2c.56A>T (p.Tyr19Phe)
c.-83A>T (n.-83A>T)
c.125A>T (p.Tyr42Phe)
6g.159692831T>CCA366296584SOD2c.56A>G (p.Tyr19Cys)
c.-83A>G (n.-83A>G)
c.125A>G (p.Tyr42Cys)
dbSNP
6g.159692831T>GCA366296586SOD2c.56A>C (p.Tyr19Ser)
c.-83A>C (n.-83A>C)
c.125A>C (p.Tyr42Ser)
dbSNP
6g.159692831T=CA1676708865SOD2c.56A= (p.Tyr19=)
c.-83A= (n.-83A=)
c.125A= (p.Tyr42=)
6g.159692832A=CA1676708866SOD2c.55T= (p.Tyr19=)
c.-84T= (n.-84T=)
c.124T= (p.Tyr42=)
6g.159692832A>CCA366296588SOD2c.55T>G (p.Tyr19Asp)
c.-84T>G (n.-84T>G)
c.124T>G (p.Tyr42Asp)
dbSNP gnomAD v4
6g.159692832A>GCA366296590SOD2c.55T>C (p.Tyr19His)
c.-84T>C (n.-84T>C)
c.124T>C (p.Tyr42His)
6g.159692832A>TCA366296591SOD2c.55T>A (p.Tyr19Asn)
c.-84T>A (n.-84T>A)
c.124T>A (p.Tyr42Asn)
6g.159692833C>ACA452863687SOD2c.54G>T (p.Gly18=)
c.-85G>T (n.-85G>T)
c.123G>T (p.Gly41=)
dbSNP
6g.159692833C=CA1676708867SOD2c.54G= (p.Gly18=)
c.-85G= (n.-85G=)
c.123G= (p.Gly41=)
6g.159692833C>GCA452863688SOD2c.54G>C (p.Gly18=)
c.-85G>C (n.-85G>C)
c.123G>C (p.Gly41=)
dbSNP
6g.159692833C>TCA452863689SOD2c.54G>A (p.Gly18=)
c.-85G>A (n.-85G>A)
c.123G>A (p.Gly41=)
dbSNP gnomAD v3 gnomAD v4
6g.159692834C>ACA366296593SOD2c.53G>T (p.Gly18Val)
c.-86G>T (n.-86G>T)
c.122G>T (p.Gly41Val)
dbSNP
6g.159692834C>GCA366296595SOD2c.53G>C (p.Gly18Ala)
c.-86G>C (n.-86G>C)
c.122G>C (p.Gly41Ala)
6g.159692834C>TCA366296597SOD2c.53G>A (p.Gly18Glu)
c.-86G>A (n.-86G>A)
c.122G>A (p.Gly41Glu)
gnomAD v4
6g.159692835C>ACA4078412SOD2c.52G>T (p.Gly18Trp)
c.-87G>T (n.-87G>T)
c.121G>T (p.Gly41Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692835C=CA1676708868SOD2c.52G= (p.Gly18=)
c.-87G= (n.-87G=)
c.121G= (p.Gly41=)
6g.159692835C>GCA366296602SOD2c.52G>C (p.Gly18Arg)
c.-87G>C (n.-87G>C)
c.121G>C (p.Gly41Arg)
dbSNP
6g.159692835C>TCA366296599SOD2c.52G>A (p.Gly18Arg)
c.-87G>A (n.-87G>A)
c.121G>A (p.Gly41Arg)
dbSNP gnomAD v2 gnomAD v4
6g.159692836C>ACA366296605SOD2c.51G>T (p.Leu17Phe)
c.-88G>T (n.-88G>T)
c.120G>T (p.Leu40Phe)
gnomAD v4
6g.159692836C=CA1676708869SOD2c.51G= (p.Leu17=)
c.-88G= (n.-88G=)
c.120G= (p.Leu40=)
6g.159692836C>GCA366296607SOD2c.51G>C (p.Leu17Phe)
c.-88G>C (n.-88G>C)
c.120G>C (p.Leu40Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.159692836C>TCA4078413SOD2c.51G>A (p.Leu17=)
c.-88G>A (n.-88G>A)
c.120G>A (p.Leu40=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692837A>CCA366296610SOD2c.50T>G (p.Leu17Trp)
c.-89T>G (n.-89T>G)
c.119T>G (p.Leu40Trp)
dbSNP
6g.159692837A>GCA366296612SOD2c.50T>C (p.Leu17Ser)
c.-89T>C (n.-89T>C)
c.119T>C (p.Leu40Ser)
6g.159692837A>TCA366296614SOD2c.50T>A (p.Leu17Ter)
c.-89T>A (n.-89T>A)
c.119T>A (p.Leu40Ter)
6g.159692840delCA2680994545SOD2c.50del (p.Leu17TrpfsTer?)
c.-89del (n.-89del)
c.119del (p.Leu40TrpfsTer?)
gnomAD v4
6g.159692838A>CCA366296618SOD2c.49T>G (p.Leu17Val)
c.-90T>G (n.-90T>G)
c.118T>G (p.Leu40Val)
6g.159692838A>GCA452863699SOD2c.49T>C (p.Leu17=)
c.-90T>C (n.-90T>C)
c.118T>C (p.Leu40=)
6g.159692838A>TCA366296616SOD2c.49T>A (p.Leu17Met)
c.-90T>A (n.-90T>A)
c.118T>A (p.Leu40Met)
6g.159692839A>CCA452863700SOD2c.48T>G (p.Val16=)
c.-91T>G (n.-91T>G)
c.117T>G (p.Val39=)
dbSNP gnomAD v4
6g.159692839A>GCA452863701SOD2c.48T>C (p.Val16=)
c.-91T>C (n.-91T>C)
c.117T>C (p.Val39=)
6g.159692839A>TCA452863703SOD2c.48T>A (p.Val16=)
c.-91T>A (n.-91T>A)
c.117T>A (p.Val39=)
6g.159692839_159692840insCACACCCAACCA2773769786SOD2c.47_48insGTTGGGTGTG (p.Tyr19ValfsTer?)
c.-92_-91insGTTGGGTGTG (n.-92_-91insGTTGGGTGTG)
c.116_117insGTTGGGTGTG (p.Tyr42ValfsTer?)
6g.159692840A=CA1630834632SOD2c.47T= (p.Val16=)
c.-92T= (n.-92T=)
c.116T= (p.Val39=)
6g.159692840A>CCA366296620SOD2c.47T>G (p.Val16Gly)
c.-92T>G (n.-92T>G)
c.116T>G (p.Val39Gly)
gnomAD v3 gnomAD v4
6g.159692840A>GCA124294SOD2c.47T>C (p.Val16Ala)
c.-92T>C (n.-92T>C)
c.116T>C (p.Val39Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.159692840A>TCA366296623SOD2c.47T>A (p.Val16Asp)
c.-92T>A (n.-92T>A)
c.116T>A (p.Val39Asp)
gnomAD v4
6g.159692841C>ACA366296625SOD2c.46G>T (p.Val16Phe)
c.-93G>T (n.-93G>T)
c.115G>T (p.Val39Phe)
dbSNP
6g.159692841C=CA1676708870SOD2c.46G= (p.Val16=)
c.-93G= (n.-93G=)
c.115G= (p.Val39=)
6g.159692841C>GCA4078414SOD2c.46G>C (p.Val16Leu)
c.-93G>C (n.-93G>C)
c.115G>C (p.Val39Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.159692841C>TCA366296627SOD2c.46G>A (p.Val16Ile)
c.-93G>A (n.-93G>A)
c.115G>A (p.Val39Ile)
dbSNP gnomAD v4

Number of alleles fetched