Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.159692747A= | CA1676708814 | SOD2 | c.140T= (p.Met47=) c.2T= (p.Met1=) c.209T= (p.Met70=) | |
6 | g.159692747A>C | CA4078395 | SOD2 | c.140T>G (p.Met47Arg) c.2T>G (p.Met1Arg) c.209T>G (p.Met70Arg) | dbSNP ExAC gnomAD v2 |
6 | g.159692747A>G | CA366296219 | SOD2 | c.140T>C (p.Met47Thr) c.2T>C (p.Met1Thr) c.209T>C (p.Met70Thr) | dbSNP |
6 | g.159692747A>T | CA366296217 | SOD2 | c.140T>A (p.Met47Lys) c.2T>A (p.Met1Lys) c.209T>A (p.Met70Lys) | |
6 | g.159692748T>A | CA366296222 | SOD2 | c.139A>T (p.Met47Leu) c.1A>T (p.Met1Leu) c.208A>T (p.Met70Leu) | |
6 | g.159692748T>C | CA366296224 | SOD2 | c.139A>G (p.Met47Val) c.1A>G (p.Met1Val) c.208A>G (p.Met70Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692748T>G | CA366296226 | SOD2 | c.139A>C (p.Met47Leu) c.1A>C (p.Met1Leu) c.208A>C (p.Met70Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692748T= | CA1676708815 | SOD2 | c.139A= (p.Met47=) c.1A= (p.Met1=) c.208A= (p.Met70=) | |
6 | g.159692749G>A | CA452863550 | SOD2 | c.138C>T (p.Ile46=) c.-1C>T (n.-1C>T) c.207C>T (p.Ile69=) | COSMIC |
6 | g.159692749G>C | CA366296227 | SOD2 | c.138C>G (p.Ile46Met) c.-1C>G (n.-1C>G) c.207C>G (p.Ile69Met) | |
6 | g.159692749G>T | CA452863551 | SOD2 | c.138C>A (p.Ile46=) c.-1C>A (n.-1C>A) c.207C>A (p.Ile69=) | |
6 | g.159692750A= | CA1676708816 | SOD2 | c.137T= (p.Ile46=) c.-2T= (n.-2T=) c.206T= (p.Ile69=) | |
6 | g.159692750A>C | CA366296229 | SOD2 | c.137T>G (p.Ile46Ser) c.-2T>G (n.-2T>G) c.206T>G (p.Ile69Ser) | |
6 | g.159692750A>G | CA151086764 | SOD2 | c.137T>C (p.Ile46Thr) c.-2T>C (n.-2T>C) c.206T>C (p.Ile69Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692750A>T | CA366296231 | SOD2 | c.137T>A (p.Ile46Asn) c.-2T>A (n.-2T>A) c.206T>A (p.Ile69Asn) | dbSNP gnomAD v4 |
6 | g.159692751T>A | CA366296234 | SOD2 | c.136A>T (p.Ile46Phe) c.-3A>T (n.-3A>T) c.205A>T (p.Ile69Phe) | |
6 | g.159692751T>C | CA366296236 | SOD2 | c.136A>G (p.Ile46Val) c.-3A>G (n.-3A>G) c.205A>G (p.Ile69Val) | |
6 | g.159692751T>G | CA366296237 | SOD2 | c.136A>C (p.Ile46Leu) c.-3A>C (n.-3A>C) c.205A>C (p.Ile69Leu) | |
6 | g.159692751_159692752insTT | CA2553661738 | SOD2 | c.136_137insAA (p.Ile46LysfsTer15) c.-3_-2insAA (n.-3_-2insAA) c.205_206insAA (p.Ile69LysfsTer15) | |
6 | g.159692752_159692753dup | CA2549270916 | SOD2 | c.135_136dup (p.Ile46ArgfsTer15) c.-4_-3dup (n.-4_-3dup) c.204_205dup (p.Ile69ArgfsTer15) | |
6 | g.159692752_159692753del | CA1096477350 | SOD2 | c.135_136del (p.Gln45HisfsTer?) c.-4_-3del (n.-4_-3del) c.204_205del (p.Gln68HisfsTer?) | gnomAD v3 gnomAD v4 |
6 | g.159692752C>A | CA366296239 | SOD2 | c.135G>T (p.Gln45His) c.-4G>T (n.-4G>T) c.204G>T (p.Gln68His) | |
6 | g.159692752C= | CA1676708817 | SOD2 | c.135G= (p.Gln45=) c.-4G= (n.-4G=) c.204G= (p.Gln68=) | |
6 | g.159692752C>G | CA366296241 | SOD2 | c.135G>C (p.Gln45His) c.-4G>C (n.-4G>C) c.204G>C (p.Gln68His) | dbSNP |
6 | g.159692752C>T | CA452863552 | SOD2 | c.135G>A (p.Gln45=) c.-4G>A (n.-4G>A) c.204G>A (p.Gln68=) | dbSNP |
6 | g.159692753T>A | CA366296246 | SOD2 | c.134A>T (p.Gln45Leu) c.-5A>T (n.-5A>T) c.203A>T (p.Gln68Leu) | dbSNP gnomAD v2 |
6 | g.159692753T>C | CA366296245 | SOD2 | c.134A>G (p.Gln45Arg) c.-5A>G (n.-5A>G) c.203A>G (p.Gln68Arg) | dbSNP gnomAD v4 |
6 | g.159692753T>G | CA366296243 | SOD2 | c.134A>C (p.Gln45Pro) c.-5A>C (n.-5A>C) c.203A>C (p.Gln68Pro) | gnomAD v3 gnomAD v4 |
6 | g.159692753T= | CA1676708818 | SOD2 | c.134A= (p.Gln45=) c.-5A= (n.-5A=) c.203A= (p.Gln68=) | |
6 | g.159692753_159692754insCTG | CA2567159140 | SOD2 | c.133_134insCAG (p.Gln45delinsProGlu) c.-6_-5insCAG (n.-6_-5insCAG) c.202_203insCAG (p.Gln68delinsProGlu) | |
6 | g.159692754G>A | CA366296248 | SOD2 | c.133C>T (p.Gln45Ter) c.-6C>T (n.-6C>T) c.202C>T (p.Gln68Ter) | dbSNP gnomAD v4 |
6 | g.159692754G>C | CA366296250 | SOD2 | c.133C>G (p.Gln45Glu) c.-6C>G (n.-6C>G) c.202C>G (p.Gln68Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692754G= | CA1676708819 | SOD2 | c.133C= (p.Gln45=) c.-6C= (n.-6C=) c.202C= (p.Gln68=) | |
6 | g.159692754G>T | CA366296252 | SOD2 | c.133C>A (p.Gln45Lys) c.-6C>A (n.-6C>A) c.202C>A (p.Gln68Lys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692755C>A | CA151086768 | SOD2 | c.132G>T (p.Ala44=) c.-7G>T (n.-7G>T) c.201G>T (p.Ala67=) | dbSNP |
6 | g.159692755C= | CA1676708820 | SOD2 | c.132G= (p.Ala44=) c.-7G= (n.-7G=) c.201G= (p.Ala67=) | |
6 | g.159692755C>G | CA452863553 | SOD2 | c.132G>C (p.Ala44=) c.-7G>C (n.-7G>C) c.201G>C (p.Ala67=) | dbSNP |
6 | g.159692755C>T | CA452863554 | SOD2 | c.132G>A (p.Ala44=) c.-7G>A (n.-7G>A) c.201G>A (p.Ala67=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692756del | CA2543108651 | SOD2 | c.131del (p.Ala44GlyfsTer16) c.-8del (n.-8del) c.200del (p.Ala67GlyfsTer16) | |
6 | g.159692756G>A | CA366296256 | SOD2 | c.131C>T (p.Ala44Val) c.-8C>T (n.-8C>T) c.200C>T (p.Ala67Val) | dbSNP |
6 | g.159692756G>C | CA4078396 | SOD2 | c.131C>G (p.Ala44Gly) c.-8C>G (n.-8C>G) c.200C>G (p.Ala67Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692756G= | CA1676708821 | SOD2 | c.131C= (p.Ala44=) c.-8C= (n.-8C=) c.200C= (p.Ala67=) | |
6 | g.159692756G>T | CA366296257 | SOD2 | c.131C>A (p.Ala44Glu) c.-8C>A (n.-8C>A) c.200C>A (p.Ala67Glu) | gnomAD v4 |
6 | g.159692756_159692757insAC | CA2537708151 | SOD2 | c.130_131insGT (p.Ala44GlyfsTer17) c.-9_-8insGT (n.-9_-8insGT) c.199_200insGT (p.Ala67GlyfsTer17) | |
6 | g.159692757C>A | CA366296259 | SOD2 | c.130G>T (p.Ala44Ser) c.-9G>T (n.-9G>T) c.199G>T (p.Ala67Ser) | dbSNP gnomAD v2 |
6 | g.159692757C= | CA1676708822 | SOD2 | c.130G= (p.Ala44=) c.-9G= (n.-9G=) c.199G= (p.Ala67=) | |
6 | g.159692757C>G | CA366296261 | SOD2 | c.130G>C (p.Ala44Pro) c.-9G>C (n.-9G>C) c.199G>C (p.Ala67Pro) | dbSNP |
6 | g.159692757C>T | CA366296263 | SOD2 | c.130G>A (p.Ala44Thr) c.-9G>A (n.-9G>A) c.199G>A (p.Ala67Thr) | dbSNP |
6 | g.159692757_159692758insCC | CA2555508679 | SOD2 | c.130_131insGG (p.Ala44GlyfsTer17) c.-9_-8insGG (n.-9_-8insGG) c.199_200insGG (p.Ala67GlyfsTer17) | |
6 | g.159692758G>A | CA4078397 | SOD2 | c.129C>T (p.Asn43=) c.-10C>T (n.-10C>T) c.198C>T (p.Asn66=) | dbSNP ExAC gnomAD v2 |
6 | g.159692758G>C | CA366296267 | SOD2 | c.129C>G (p.Asn43Lys) c.-10C>G (n.-10C>G) c.198C>G (p.Asn66Lys) | dbSNP |
6 | g.159692758G= | CA1676708823 | SOD2 | c.129C= (p.Asn43=) c.-10C= (n.-10C=) c.198C= (p.Asn66=) | |
6 | g.159692758G>T | CA366296268 | SOD2 | c.129C>A (p.Asn43Lys) c.-10C>A (n.-10C>A) c.198C>A (p.Asn66Lys) | |
6 | g.159692758_159692759del | CA2559176633 | SOD2 | c.128_129del (p.Asn43SerfsTer?) c.-11_-10del (n.-11_-10del) c.197_198del (p.Asn66SerfsTer?) | |
6 | g.159692759_159692761del | CA2543626439 | SOD2 | c.127_129del (p.Asn43del) c.-12_-10del (n.-12_-10del) c.196_198del (p.Asn66del) | |
6 | g.159692759T>A | CA366296274 | SOD2 | c.128A>T (p.Asn43Ile) c.-11A>T (n.-11A>T) c.197A>T (p.Asn66Ile) | dbSNP |
6 | g.159692759T>C | CA366296271 | SOD2 | c.128A>G (p.Asn43Ser) c.-11A>G (n.-11A>G) c.197A>G (p.Asn66Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692759T>G | CA366296273 | SOD2 | c.128A>C (p.Asn43Thr) c.-11A>C (n.-11A>C) c.197A>C (p.Asn66Thr) | dbSNP gnomAD v4 |
6 | g.159692759_159692760del | CA2680994541 | SOD2 | c.127_128del (p.Asn43ArgfsTer?) c.-12_-11del (n.-12_-11del) c.196_197del (p.Asn66ArgfsTer?) | gnomAD v4 |
6 | g.159692760dup | CA2840595703 | SOD2 | c.128dup (p.Asn43LysfsTer?) c.-11dup (n.-11dup) c.197dup (p.Asn66LysfsTer?) | |
6 | g.159692760T>A | CA366296277 | SOD2 | c.127A>T (p.Asn43Tyr) c.-12A>T (n.-12A>T) c.196A>T (p.Asn66Tyr) | dbSNP |
6 | g.159692760T>C | CA366296279 | SOD2 | c.127A>G (p.Asn43Asp) c.-12A>G (n.-12A>G) c.196A>G (p.Asn66Asp) | dbSNP gnomAD v2 |
6 | g.159692760T>G | CA366296281 | SOD2 | c.127A>C (p.Asn43His) c.-12A>C (n.-12A>C) c.196A>C (p.Asn66His) | |
6 | g.159692760T= | CA1676708824 | SOD2 | c.127A= (p.Asn43=) c.-12A= (n.-12A=) c.196A= (p.Asn66=) | |
6 | g.159692761G>A | CA452863561 | SOD2 | c.126C>T (p.Ile42=) c.-13C>T (n.-13C>T) c.195C>T (p.Ile65=) | dbSNP |
6 | g.159692761G>C | CA366296283 | SOD2 | c.126C>G (p.Ile42Met) c.-13C>G (n.-13C>G) c.195C>G (p.Ile65Met) | gnomAD v4 |
6 | g.159692761G= | CA1676708825 | SOD2 | c.126C= (p.Ile42=) c.-13C= (n.-13C=) c.195C= (p.Ile65=) | |
6 | g.159692761G>T | CA452863560 | SOD2 | c.126C>A (p.Ile42=) c.-13C>A (n.-13C>A) c.195C>A (p.Ile65=) | |
6 | g.159692762A>C | CA366296284 | SOD2 | c.125T>G (p.Ile42Ser) c.-14T>G (n.-14T>G) c.194T>G (p.Ile65Ser) | |
6 | g.159692762A>G | CA366296286 | SOD2 | c.125T>C (p.Ile42Thr) c.-14T>C (n.-14T>C) c.194T>C (p.Ile65Thr) | dbSNP |
6 | g.159692762A>T | CA366296288 | SOD2 | c.125T>A (p.Ile42Asn) c.-14T>A (n.-14T>A) c.194T>A (p.Ile65Asn) | |
6 | g.159692762_159692763insAA | CA2539620196 | SOD2 | c.125_126insTT (p.Asn43SerfsTer18) c.-14_-13insTT (n.-14_-13insTT) c.194_195insTT (p.Asn66SerfsTer18) | gnomAD v4 |
6 | g.159692763T>A | CA366296290 | SOD2 | c.124A>T (p.Ile42Phe) c.-15A>T (n.-15A>T) c.193A>T (p.Ile65Phe) | |
6 | g.159692763T>C | CA366296292 | SOD2 | c.124A>G (p.Ile42Val) c.-15A>G (n.-15A>G) c.193A>G (p.Ile65Val) | gnomAD v4 |
6 | g.159692763T>G | CA366296294 | SOD2 | c.124A>C (p.Ile42Leu) c.-15A>C (n.-15A>C) c.193A>C (p.Ile65Leu) | |
6 | g.159692764G>A | CA452863565 | SOD2 | c.123C>T (p.His41=) c.-16C>T (n.-16C>T) c.192C>T (p.His64=) | dbSNP gnomAD v4 |
6 | g.159692764G>C | CA366296296 | SOD2 | c.123C>G (p.His41Gln) c.-16C>G (n.-16C>G) c.192C>G (p.His64Gln) | |
6 | g.159692764G>T | CA366296297 | SOD2 | c.123C>A (p.His41Gln) c.-16C>A (n.-16C>A) c.192C>A (p.His64Gln) | |
6 | g.159692765T>A | CA366296300 | SOD2 | c.122A>T (p.His41Leu) c.-17A>T (n.-17A>T) c.191A>T (p.His64Leu) | |
6 | g.159692765T>C | CA366296303 | SOD2 | c.122A>G (p.His41Arg) c.-17A>G (n.-17A>G) c.191A>G (p.His64Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692765T>G | CA366296299 | SOD2 | c.122A>C (p.His41Pro) c.-17A>C (n.-17A>C) c.191A>C (p.His64Pro) | |
6 | g.159692765T= | CA1676708826 | SOD2 | c.122A= (p.His41=) c.-17A= (n.-17A=) c.191A= (p.His64=) | |
6 | g.159692766G>A | CA366296307 | SOD2 | c.121C>T (p.His41Tyr) c.-18C>T (n.-18C>T) c.190C>T (p.His64Tyr) | |
6 | g.159692766G>C | CA366296305 | SOD2 | c.121C>G (p.His41Asp) c.-18C>G (n.-18C>G) c.190C>G (p.His64Asp) | |
6 | g.159692766G>T | CA366296309 | SOD2 | c.121C>A (p.His41Asn) c.-18C>A (n.-18C>A) c.190C>A (p.His64Asn) | |
6 | g.159692766_159692767insT | CA2713605505 | SOD2 | c.120_121insA (p.His41ThrfsTer?) c.-19_-18insA (n.-19_-18insA) c.189_190insA (p.His64ThrfsTer?) | dbSNP |
6 | g.159692767A= | CA1676708827 | SOD2 | c.120T= (p.Pro40=) c.-19T= (n.-19T=) c.189T= (p.Pro63=) | |
6 | g.159692767A>C | CA452863569 | SOD2 | c.120T>G (p.Pro40=) c.-19T>G (n.-19T>G) c.189T>G (p.Pro63=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692767A>G | CA452863567 | SOD2 | c.120T>C (p.Pro40=) c.-19T>C (n.-19T>C) c.189T>C (p.Pro63=) | |
6 | g.159692767A>T | CA452863568 | SOD2 | c.120T>A (p.Pro40=) c.-19T>A (n.-19T>A) c.189T>A (p.Pro63=) | dbSNP |
6 | g.159692768G>A | CA366296311 | SOD2 | c.119C>T (p.Pro40Leu) c.-20C>T (n.-20C>T) c.188C>T (p.Pro63Leu) | dbSNP |
6 | g.159692768G>C | CA366296314 | SOD2 | c.119C>G (p.Pro40Arg) c.-20C>G (n.-20C>G) c.188C>G (p.Pro63Arg) | gnomAD v4 |
6 | g.159692768G>T | CA366296313 | SOD2 | c.119C>A (p.Pro40His) c.-20C>A (n.-20C>A) c.188C>A (p.Pro63His) | |
6 | g.159692769G>A | CA366296315 | SOD2 | c.118C>T (p.Pro40Ser) c.-21C>T (n.-21C>T) c.187C>T (p.Pro63Ser) | |
6 | g.159692769G>C | CA366296319 | SOD2 | c.118C>G (p.Pro40Ala) c.-21C>G (n.-21C>G) c.187C>G (p.Pro63Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692769G= | CA1676708828 | SOD2 | c.118C= (p.Pro40=) c.-21C= (n.-21C=) c.187C= (p.Pro63=) | |
6 | g.159692769G>T | CA366296317 | SOD2 | c.118C>A (p.Pro40Thr) c.-21C>A (n.-21C>A) c.187C>A (p.Pro63Thr) | |
6 | g.159692770T>A | CA366296321 | SOD2 | c.117A>T (p.Glu39Asp) c.-22A>T (n.-22A>T) c.186A>T (p.Glu62Asp) | |
6 | g.159692770T>C | CA452863571 | SOD2 | c.117A>G (p.Glu39=) c.-22A>G (n.-22A>G) c.186A>G (p.Glu62=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692770T>G | CA4078398 | SOD2 | c.117A>C (p.Glu39Asp) c.-22A>C (n.-22A>C) c.186A>C (p.Glu62Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692770T= | CA1676708829 | SOD2 | c.117A= (p.Glu39=) c.-22A= (n.-22A=) c.186A= (p.Glu62=) | |
6 | g.159692771T>A | CA366296325 | SOD2 | c.116A>T (p.Glu39Val) c.-23A>T (n.-23A>T) c.185A>T (p.Glu62Val) | |
6 | g.159692771T>C | CA366296327 | SOD2 | c.116A>G (p.Glu39Gly) c.-23A>G (n.-23A>G) c.185A>G (p.Glu62Gly) | |
6 | g.159692771T>G | CA366296329 | SOD2 | c.116A>C (p.Glu39Ala) c.-23A>C (n.-23A>C) c.185A>C (p.Glu62Ala) | |
6 | g.159692772C>A | CA366296334 | SOD2 | c.115G>T (p.Glu39Ter) c.-24G>T (n.-24G>T) c.184G>T (p.Glu62Ter) | |
6 | g.159692772C= | CA1676708830 | SOD2 | c.115G= (p.Glu39=) c.-24G= (n.-24G=) c.184G= (p.Glu62=) | |
6 | g.159692772C>G | CA366296332 | SOD2 | c.115G>C (p.Glu39Gln) c.-24G>C (n.-24G>C) c.184G>C (p.Glu62Gln) | |
6 | g.159692772C>T | CA151086771 | SOD2 | c.115G>A (p.Glu39Lys) c.-24G>A (n.-24G>A) c.184G>A (p.Glu62Lys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692773C>A | CA452863577 | SOD2 | c.114G>T (p.Leu38=) c.-25G>T (n.-25G>T) c.183G>T (p.Leu61=) | dbSNP |
6 | g.159692773C>G | CA452863575 | SOD2 | c.114G>C (p.Leu38=) c.-25G>C (n.-25G>C) c.183G>C (p.Leu61=) | gnomAD v3 gnomAD v4 |
6 | g.159692773C>T | CA452863576 | SOD2 | c.114G>A (p.Leu38=) c.-25G>A (n.-25G>A) c.183G>A (p.Leu61=) | dbSNP |
6 | g.159692774A= | CA1676708831 | SOD2 | c.113T= (p.Leu38=) c.-26T= (n.-26T=) c.182T= (p.Leu61=) | |
6 | g.159692774A>C | CA366296336 | SOD2 | c.113T>G (p.Leu38Arg) c.-26T>G (n.-26T>G) c.182T>G (p.Leu61Arg) | |
6 | g.159692774A>G | CA366296338 | SOD2 | c.113T>C (p.Leu38Pro) c.-26T>C (n.-26T>C) c.182T>C (p.Leu61Pro) | dbSNP |
6 | g.159692774A>T | CA151086775 | SOD2 | c.113T>A (p.Leu38Gln) c.-26T>A (n.-26T>A) c.182T>A (p.Leu61Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692775G>A | CA452863579 | SOD2 | c.112C>T (p.Leu38=) c.-27C>T (n.-27C>T) c.181C>T (p.Leu61=) | dbSNP gnomAD v2 |
6 | g.159692775G>C | CA366296342 | SOD2 | c.112C>G (p.Leu38Val) c.-27C>G (n.-27C>G) c.181C>G (p.Leu61Val) | |
6 | g.159692775G= | CA1676708832 | SOD2 | c.112C= (p.Leu38=) c.-27C= (n.-27C=) c.181C= (p.Leu61=) | |
6 | g.159692775G>T | CA366296344 | SOD2 | c.112C>A (p.Leu38Met) c.-27C>A (n.-27C>A) c.181C>A (p.Leu61Met) | |
6 | g.159692776_159692777del | CA2512121762 | SOD2 | c.111_112del (p.Leu38GlyfsTer?) c.-28_-27del (n.-28_-27del) c.180_181del (p.Leu61GlyfsTer?) | gnomAD v4 |
6 | g.159692776G>A | CA452863580 | SOD2 | c.111C>T (p.Ala37=) c.-28C>T (n.-28C>T) c.180C>T (p.Ala60=) | dbSNP |
6 | g.159692776G>C | CA4078399 | SOD2 | c.111C>G (p.Ala37=) c.-28C>G (n.-28C>G) c.180C>G (p.Ala60=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692776G= | CA1676708833 | SOD2 | c.111C= (p.Ala37=) c.-28C= (n.-28C=) c.180C= (p.Ala60=) | |
6 | g.159692776G>T | CA452863581 | SOD2 | c.111C>A (p.Ala37=) c.-28C>A (n.-28C>A) c.180C>A (p.Ala60=) | dbSNP |
6 | g.159692777G>A | CA366296347 | SOD2 | c.110C>T (p.Ala37Val) c.-29C>T (n.-29C>T) c.179C>T (p.Ala60Val) | dbSNP gnomAD v4 |
6 | g.159692777G>C | CA366296351 | SOD2 | c.110C>G (p.Ala37Gly) c.-29C>G (n.-29C>G) c.179C>G (p.Ala60Gly) | |
6 | g.159692777G= | CA1676708834 | SOD2 | c.110C= (p.Ala37=) c.-29C= (n.-29C=) c.179C= (p.Ala60=) | |
6 | g.159692777G>T | CA366296349 | SOD2 | c.110C>A (p.Ala37Asp) c.-29C>A (n.-29C>A) c.179C>A (p.Ala60Asp) | gnomAD v4 |
6 | g.159692778C>A | CA366296353 | SOD2 | c.109G>T (p.Ala37Ser) c.-30G>T (n.-30G>T) c.178G>T (p.Ala60Ser) | dbSNP |
6 | g.159692778C>G | CA366296355 | SOD2 | c.109G>C (p.Ala37Pro) c.-30G>C (n.-30G>C) c.178G>C (p.Ala60Pro) | |
6 | g.159692778C>T | CA366296357 | SOD2 | c.109G>A (p.Ala37Thr) c.-30G>A (n.-30G>A) c.178G>A (p.Ala60Thr) | dbSNP gnomAD v4 |
6 | g.159692779G>A | CA452863583 | SOD2 | c.108C>T (p.Gly36=) c.-31C>T (n.-31C>T) c.177C>T (p.Gly59=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692779G>C | CA452863584 | SOD2 | c.108C>G (p.Gly36=) c.-31C>G (n.-31C>G) c.177C>G (p.Gly59=) | dbSNP |
6 | g.159692779G= | CA1676708835 | SOD2 | c.108C= (p.Gly36=) c.-31C= (n.-31C=) c.177C= (p.Gly59=) | |
6 | g.159692779G>T | CA452863585 | SOD2 | c.108C>A (p.Gly36=) c.-31C>A (n.-31C>A) c.177C>A (p.Gly59=) | gnomAD v4 |
6 | g.159692780C>A | CA366296359 | SOD2 | c.107G>T (p.Gly36Val) c.-32G>T (n.-32G>T) c.176G>T (p.Gly59Val) | |
6 | g.159692780C= | CA1676708836 | SOD2 | c.107G= (p.Gly36=) c.-32G= (n.-32G=) c.176G= (p.Gly59=) | |
6 | g.159692780C>G | CA366296361 | SOD2 | c.107G>C (p.Gly36Ala) c.-32G>C (n.-32G>C) c.176G>C (p.Gly59Ala) | gnomAD v3 gnomAD v4 |
6 | g.159692780C>T | CA366296363 | SOD2 | c.107G>A (p.Gly36Asp) c.-32G>A (n.-32G>A) c.176G>A (p.Gly59Asp) | dbSNP gnomAD v2 |
6 | g.159692780_159692781insAT | CA2512131274 | SOD2 | c.106_107insAT (p.Gly36AspfsTer25) c.-33_-32insAT (n.-33_-32insAT) c.175_176insAT (p.Gly59AspfsTer25) | |
6 | g.159692780_159692781insTG | CA2680994542 | SOD2 | c.106_107insCA (p.Gly36AlafsTer25) c.-33_-32insCA (n.-33_-32insCA) c.175_176insCA (p.Gly59AlafsTer25) | gnomAD v4 |
6 | g.159692781C>A | CA366296365 | SOD2 | c.106G>T (p.Gly36Cys) c.-33G>T (n.-33G>T) c.175G>T (p.Gly59Cys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692781C= | CA1676708837 | SOD2 | c.106G= (p.Gly36=) c.-33G= (n.-33G=) c.175G= (p.Gly59=) | |
6 | g.159692781C>G | CA366296367 | SOD2 | c.106G>C (p.Gly36Arg) c.-33G>C (n.-33G>C) c.175G>C (p.Gly59Arg) | dbSNP |
6 | g.159692781C>T | CA151086799 | SOD2 | c.106G>A (p.Gly36Ser) c.-33G>A (n.-33G>A) c.175G>A (p.Gly59Ser) | dbSNP |
6 | g.159692782G>A | CA151086800 | SOD2 | c.105C>T (p.Tyr35=) c.-34C>T (n.-34C>T) c.174C>T (p.Tyr58=) | dbSNP |
6 | g.159692782G>C | CA366296369 | SOD2 | c.105C>G (p.Tyr35Ter) c.-34C>G (n.-34C>G) c.174C>G (p.Tyr58Ter) | |
6 | g.159692782G= | CA1676708838 | SOD2 | c.105C= (p.Tyr35=) c.-34C= (n.-34C=) c.174C= (p.Tyr58=) | |
6 | g.159692782G>T | CA366296371 | SOD2 | c.105C>A (p.Tyr35Ter) c.-34C>A (n.-34C>A) c.174C>A (p.Tyr58Ter) | dbSNP |
6 | g.159692783T>A | CA366296373 | SOD2 | c.104A>T (p.Tyr35Phe) c.-35A>T (n.-35A>T) c.173A>T (p.Tyr58Phe) | |
6 | g.159692783T>C | CA366296377 | SOD2 | c.104A>G (p.Tyr35Cys) c.-35A>G (n.-35A>G) c.173A>G (p.Tyr58Cys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692783T>G | CA366296375 | SOD2 | c.104A>C (p.Tyr35Ser) c.-35A>C (n.-35A>C) c.173A>C (p.Tyr58Ser) | dbSNP |
6 | g.159692783T= | CA1676708839 | SOD2 | c.104A= (p.Tyr35=) c.-35A= (n.-35A=) c.173A= (p.Tyr58=) | |
6 | g.159692784A= | CA1676708840 | SOD2 | c.103T= (p.Tyr35=) c.-36T= (n.-36T=) c.172T= (p.Tyr58=) | |
6 | g.159692784A>C | CA366296378 | SOD2 | c.103T>G (p.Tyr35Asp) c.-36T>G (n.-36T>G) c.172T>G (p.Tyr58Asp) | |
6 | g.159692784A>G | CA366296380 | SOD2 | c.103T>C (p.Tyr35His) c.-36T>C (n.-36T>C) c.172T>C (p.Tyr58His) | dbSNP |
6 | g.159692784A>T | CA366296382 | SOD2 | c.103T>A (p.Tyr35Asn) c.-36T>A (n.-36T>A) c.172T>A (p.Tyr58Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692785G>A | CA452863588 | SOD2 | c.102C>T (p.Asp34=) c.-37C>T (n.-37C>T) c.171C>T (p.Asp57=) | dbSNP |
6 | g.159692785G>C | CA366296384 | SOD2 | c.102C>G (p.Asp34Glu) c.-37C>G (n.-37C>G) c.171C>G (p.Asp57Glu) | |
6 | g.159692785G>T | CA366296385 | SOD2 | c.102C>A (p.Asp34Glu) c.-37C>A (n.-37C>A) c.171C>A (p.Asp57Glu) | |
6 | g.159692786del | CA2680994543 | SOD2 | c.101del (p.Asp34AlafsTer26) c.-38del (n.-38del) c.170del (p.Asp57AlafsTer26) | gnomAD v4 |
6 | g.159692786T>A | CA366296388 | SOD2 | c.101A>T (p.Asp34Val) c.-38A>T (n.-38A>T) c.170A>T (p.Asp57Val) | dbSNP |
6 | g.159692786T>C | CA366296390 | SOD2 | c.101A>G (p.Asp34Gly) c.-38A>G (n.-38A>G) c.170A>G (p.Asp57Gly) | dbSNP |
6 | g.159692786T>G | CA366296391 | SOD2 | c.101A>C (p.Asp34Ala) c.-38A>C (n.-38A>C) c.170A>C (p.Asp57Ala) | dbSNP gnomAD v2 |
6 | g.159692786T= | CA1676708841 | SOD2 | c.101A= (p.Asp34=) c.-38A= (n.-38A=) c.170A= (p.Asp57=) | |
6 | g.159692787C>A | CA366296394 | SOD2 | c.100G>T (p.Asp34Tyr) c.-39G>T (n.-39G>T) c.169G>T (p.Asp57Tyr) | dbSNP gnomAD v2 |
6 | g.159692787C= | CA1676708842 | SOD2 | c.100G= (p.Asp34=) c.-39G= (n.-39G=) c.169G= (p.Asp57=) | |
6 | g.159692787C>G | CA366296396 | SOD2 | c.100G>C (p.Asp34His) c.-39G>C (n.-39G>C) c.169G>C (p.Asp57His) | dbSNP |
6 | g.159692787C>T | CA366296397 | SOD2 | c.100G>A (p.Asp34Asn) c.-39G>A (n.-39G>A) c.169G>A (p.Asp57Asn) | dbSNP |
6 | g.159692788G>A | CA452863592 | SOD2 | c.99C>T (p.Tyr33=) c.-40C>T (n.-40C>T) c.168C>T (p.Tyr56=) | dbSNP |
6 | g.159692788G>C | CA366296402 | SOD2 | c.99C>G (p.Tyr33Ter) c.-40C>G (n.-40C>G) c.168C>G (p.Tyr56Ter) | |
6 | g.159692788G>T | CA366296400 | SOD2 | c.99C>A (p.Tyr33Ter) c.-40C>A (n.-40C>A) c.168C>A (p.Tyr56Ter) | gnomAD v4 |
6 | g.159692789T>A | CA366296403 | SOD2 | c.98A>T (p.Tyr33Phe) c.-41A>T (n.-41A>T) c.167A>T (p.Tyr56Phe) | dbSNP |
6 | g.159692789T>C | CA366296405 | SOD2 | c.98A>G (p.Tyr33Cys) c.-41A>G (n.-41A>G) c.167A>G (p.Tyr56Cys) | |
6 | g.159692789T>G | CA366296406 | SOD2 | c.98A>C (p.Tyr33Ser) c.-41A>C (n.-41A>C) c.167A>C (p.Tyr56Ser) | dbSNP |
6 | g.159692790A>C | CA366296407 | SOD2 | c.97T>G (p.Tyr33Asp) c.-42T>G (n.-42T>G) c.166T>G (p.Tyr56Asp) | |
6 | g.159692790A>G | CA366296409 | SOD2 | c.97T>C (p.Tyr33His) c.-42T>C (n.-42T>C) c.166T>C (p.Tyr56His) | |
6 | g.159692790A>T | CA366296411 | SOD2 | c.97T>A (p.Tyr33Asn) c.-42T>A (n.-42T>A) c.166T>A (p.Tyr56Asn) | |
6 | g.159692791G>A | CA452863593 | SOD2 | c.96C>T (p.Pro32=) c.-43C>T (n.-43C>T) c.165C>T (p.Pro55=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692791G>C | CA452863594 | SOD2 | c.96C>G (p.Pro32=) c.-43C>G (n.-43C>G) c.165C>G (p.Pro55=) | |
6 | g.159692791G= | CA1676708843 | SOD2 | c.96C= (p.Pro32=) c.-43C= (n.-43C=) c.165C= (p.Pro55=) | |
6 | g.159692791G>T | CA452863595 | SOD2 | c.96C>A (p.Pro32=) c.-43C>A (n.-43C>A) c.165C>A (p.Pro55=) | |
6 | g.159692791_159692792insTCGAGATCG | CA2550452975 | SOD2 | c.96_97insGATCTCGAC (p.Pro32_Tyr33insAspLeuAsp) c.-43_-42insGATCTCGAC (n.-43_-42insGATCTCGAC) c.165_166insGATCTCGAC (p.Pro55_Tyr56insAspLeuAsp) | |
6 | g.159692791_159692792insTC | CA2571301689 | SOD2 | c.95_96insGA (p.Tyr33ThrfsTer28) c.-44_-43insGA (n.-44_-43insGA) c.164_165insGA (p.Tyr56ThrfsTer28) | |
6 | g.159692792G>A | CA366296413 | SOD2 | c.95C>T (p.Pro32Leu) c.-44C>T (n.-44C>T) c.164C>T (p.Pro55Leu) | gnomAD v4 |
6 | g.159692792G>C | CA4078400 | SOD2 | c.95C>G (p.Pro32Arg) c.-44C>G (n.-44C>G) c.164C>G (p.Pro55Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692792G= | CA1676708844 | SOD2 | c.95C= (p.Pro32=) c.-44C= (n.-44C=) c.164C= (p.Pro55=) | |
6 | g.159692792G>T | CA366296416 | SOD2 | c.95C>A (p.Pro32His) c.-44C>A (n.-44C>A) c.164C>A (p.Pro55His) | |
6 | g.159692793G>A | CA4078401 | SOD2 | c.94C>T (p.Pro32Ser) c.-45C>T (n.-45C>T) c.163C>T (p.Pro55Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692793G>C | CA366296419 | SOD2 | c.94C>G (p.Pro32Ala) c.-45C>G (n.-45C>G) c.163C>G (p.Pro55Ala) | |
6 | g.159692793G= | CA1676708845 | SOD2 | c.94C= (p.Pro32=) c.-45C= (n.-45C=) c.163C= (p.Pro55=) | |
6 | g.159692793G>T | CA366296421 | SOD2 | c.94C>A (p.Pro32Thr) c.-45C>A (n.-45C>A) c.163C>A (p.Pro55Thr) | dbSNP |
6 | g.159692793_159692794del | CA2512052282 | SOD2 | c.93_94del (p.Pro32LeufsTer?) c.-46_-45del (n.-46_-45del) c.162_163del (p.Pro55LeufsTer?) | |
6 | g.159692794C>A | CA452863597 | SOD2 | c.93G>T (p.Leu31=) c.-46G>T (n.-46G>T) c.162G>T (p.Leu54=) | gnomAD v4 |
6 | g.159692794C>G | CA452863602 | SOD2 | c.93G>C (p.Leu31=) c.-46G>C (n.-46G>C) c.162G>C (p.Leu54=) | dbSNP |
6 | g.159692794C>T | CA452863599 | SOD2 | c.93G>A (p.Leu31=) c.-46G>A (n.-46G>A) c.162G>A (p.Leu54=) | dbSNP |
6 | g.159692795A>C | CA366296425 | SOD2 | c.92T>G (p.Leu31Arg) c.-47T>G (n.-47T>G) c.161T>G (p.Leu54Arg) | |
6 | g.159692795A>G | CA366296427 | SOD2 | c.92T>C (p.Leu31Pro) c.-47T>C (n.-47T>C) c.161T>C (p.Leu54Pro) | |
6 | g.159692795A>T | CA366296423 | SOD2 | c.92T>A (p.Leu31Gln) c.-47T>A (n.-47T>A) c.161T>A (p.Leu54Gln) | |
6 | g.159692796G>A | CA452863606 | SOD2 | c.91C>T (p.Leu31=) c.-48C>T (n.-48C>T) c.160C>T (p.Leu54=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692796G>C | CA366296430 | SOD2 | c.91C>G (p.Leu31Val) c.-48C>G (n.-48C>G) c.160C>G (p.Leu54Val) | |
6 | g.159692796G= | CA1676708846 | SOD2 | c.91C= (p.Leu31=) c.-48C= (n.-48C=) c.160C= (p.Leu54=) | |
6 | g.159692796G>T | CA366296429 | SOD2 | c.91C>A (p.Leu31Met) c.-48C>A (n.-48C>A) c.160C>A (p.Leu54Met) | |
6 | g.159692797G>A | CA452863610 | SOD2 | c.90C>T (p.Asp30=) c.-49C>T (n.-49C>T) c.159C>T (p.Asp53=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692797G>C | CA366296433 | SOD2 | c.90C>G (p.Asp30Glu) c.-49C>G (n.-49C>G) c.159C>G (p.Asp53Glu) | COSMIC |
6 | g.159692797G= | CA1676708847 | SOD2 | c.90C= (p.Asp30=) c.-49C= (n.-49C=) c.159C= (p.Asp53=) | |
6 | g.159692797G>T | CA4078402 | SOD2 | c.90C>A (p.Asp30Glu) c.-49C>A (n.-49C>A) c.159C>A (p.Asp53Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692797_159692798insACGTAGGTCA | CA2499963868 | SOD2 | c.89_90insTGACCTACGT (p.Leu31AspfsTer?) c.-50_-49insTGACCTACGT (n.-50_-49insTGACCTACGT) c.158_159insTGACCTACGT (p.Leu54AspfsTer?) | |
6 | g.159692798T>A | CA366296436 | SOD2 | c.89A>T (p.Asp30Val) c.-50A>T (n.-50A>T) c.158A>T (p.Asp53Val) | dbSNP |
6 | g.159692798T>C | CA366296438 | SOD2 | c.89A>G (p.Asp30Gly) c.-50A>G (n.-50A>G) c.158A>G (p.Asp53Gly) | dbSNP |
6 | g.159692798T>G | CA366296439 | SOD2 | c.89A>C (p.Asp30Ala) c.-50A>C (n.-50A>C) c.158A>C (p.Asp53Ala) | dbSNP |
6 | g.159692799C>A | CA366296441 | SOD2 | c.88G>T (p.Asp30Tyr) c.-51G>T (n.-51G>T) c.157G>T (p.Asp53Tyr) | |
6 | g.159692799C>G | CA366296443 | SOD2 | c.88G>C (p.Asp30His) c.-51G>C (n.-51G>C) c.157G>C (p.Asp53His) | |
6 | g.159692799C>T | CA366296444 | SOD2 | c.88G>A (p.Asp30Asn) c.-51G>A (n.-51G>A) c.157G>A (p.Asp53Asn) | dbSNP |
6 | g.159692800G>A | CA452863615 | SOD2 | c.87C>T (p.Pro29=) c.-52C>T (n.-52C>T) c.156C>T (p.Pro52=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692800G>C | CA452863616 | SOD2 | c.87C>G (p.Pro29=) c.-52C>G (n.-52C>G) c.156C>G (p.Pro52=) | |
6 | g.159692800G= | CA1676708848 | SOD2 | c.87C= (p.Pro29=) c.-52C= (n.-52C=) c.156C= (p.Pro52=) | |
6 | g.159692800G>T | CA452863617 | SOD2 | c.87C>A (p.Pro29=) c.-52C>A (n.-52C>A) c.156C>A (p.Pro52=) | dbSNP |
6 | g.159692801G>A | CA366296446 | SOD2 | c.86C>T (p.Pro29Leu) c.-53C>T (n.-53C>T) c.155C>T (p.Pro52Leu) | dbSNP |
6 | g.159692801G>C | CA366296448 | SOD2 | c.86C>G (p.Pro29Arg) c.-53C>G (n.-53C>G) c.155C>G (p.Pro52Arg) | |
6 | g.159692801G>T | CA366296450 | SOD2 | c.86C>A (p.Pro29His) c.-53C>A (n.-53C>A) c.155C>A (p.Pro52His) | |
6 | g.159692802_159692803insACTCCTCGGTTCGG | CA2525138647 | SOD2 | c.86_87insGAACCGAGGAGTCC (p.Asp30AsnfsTer?) c.-53_-52insGAACCGAGGAGTCC (n.-53_-52insGAACCGAGGAGTCC) c.155_156insGAACCGAGGAGTCC (p.Asp53AsnfsTer?) | |
6 | g.159692802G>A | CA366296456 | SOD2 | c.85C>T (p.Pro29Ser) c.-54C>T (n.-54C>T) c.154C>T (p.Pro52Ser) | dbSNP |
6 | g.159692802G>C | CA366296452 | SOD2 | c.85C>G (p.Pro29Ala) c.-54C>G (n.-54C>G) c.154C>G (p.Pro52Ala) | |
6 | g.159692802G>T | CA366296454 | SOD2 | c.85C>A (p.Pro29Thr) c.-54C>A (n.-54C>A) c.154C>A (p.Pro52Thr) | dbSNP |
6 | g.159692802_159692803insAA | CA2514244547 | SOD2 | c.84_85insTT (p.Pro29PhefsTer?) c.-55_-54insTT (n.-55_-54insTT) c.153_154insTT (p.Pro52PhefsTer?) | |
6 | g.159692802_159692803insCAGGGTGTAGACGGTCAT | CA2773769783 | SOD2 | c.84_85insATGACCGTCTACACCCTG (p.Leu28_Pro29insMetThrValTyrThrLeu) c.-55_-54insATGACCGTCTACACCCTG (n.-55_-54insATGACCGTCTACACCCTG) c.153_154insATGACCGTCTACACCCTG (p.Leu51_Pro52insMetThrValTyrThrLeu) | |
6 | g.159692802_159692803insAAGTACGTATTTCTTGGCCATAAAAACTAT | CA2532269477 | SOD2 | c.84_85insATAGTTTTTATGGCCAAGAAATACGTACTT (p.Leu28_Pro29insIleValPheMetAlaLysLysTyrValLeu) c.-55_-54insATAGTTTTTATGGCCAAGAAATACGTACTT (n.-55_-54insATAGTTTTTATGGCCAAGAAATACGTACTT) c.153_154insATAGTTTTTATGGCCAAGAAATACGTACTT (p.Leu51_Pro52insIleValPheMetAlaLysLysTyrValLeu) | |
6 | g.159692802_159692803insCAGAGTGTAGACGGTCATGATGCTCCTCCTGGGCGTCGTCATATAGCTGTTGACTCCAAGGGTAGTACTTTAGTCCCGGCTTGCGAAGAGGTTGTGTGTCACCTTTCGCGGATCGCGATCAACGAC | CA2530948192 | SOD2 | c.84_85insGTCGTTGATCGCGATCCGCGAAAGGTGACACACAACCTCTTCGCAAGCCGGGACTAAAGTACTACCCTTGGAGTCAACAGCTATATGACGACGCCCAGGAGGAGCATCATGACCGTCTACACTCTG c.-55_-54insGTCGTTGATCGCGATCCGCGAAAGGTGACACACAACCTCTTCGCAAGCCGGGACTAAAGTACTACCCTTGGAGTCAACAGCTATATGACGACGCCCAGGAGGAGCATCATGACCGTCTACACTCTG (n.-55_-54insGTCGTTGATCGCGATCCGCGAAAGGTGACACACAACCTCTTCGCAAGCCGGGACTAAAGTACTACCCTTGGAGTCAACAGCTATATGACGACGCCCAGGAGGAGCATCATGACCGTCTACACTCTG) c.153_154insGTCGTTGATCGCGATCCGCGAAAGGTGACACACAACCTCTTCGCAAGCCGGGACTAAAGTACTACCCTTGGAGTCAACAGCTATATGACGACGCCCAGGAGGAGCATCATGACCGTCTACACTCTG | |
6 | g.159692803G>A | CA452863625 | SOD2 | c.84C>T (p.Leu28=) c.-55C>T (n.-55C>T) c.153C>T (p.Leu51=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692803G>C | CA452863629 | SOD2 | c.84C>G (p.Leu28=) c.-55C>G (n.-55C>G) c.153C>G (p.Leu51=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692803G= | CA1676708849 | SOD2 | c.84C= (p.Leu28=) c.-55C= (n.-55C=) c.153C= (p.Leu51=) | |
6 | g.159692803G>T | CA452863630 | SOD2 | c.84C>A (p.Leu28=) c.-55C>A (n.-55C>A) c.153C>A (p.Leu51=) | gnomAD v4 |
6 | g.159692803_159692804insTACGTATTTCTTGGCCATAAAAACTATGATCCTTTCCTAATGGGTGTTTCTAGCCATGAT | CA2545055867 | SOD2 | c.83_84insATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu29SerfsTer12) c.-56_-55insATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (n.-56_-55insATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA) c.152_153insATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu52SerfsTer12) | |
6 | g.159692804A>C | CA366296459 | SOD2 | c.83T>G (p.Leu28Arg) c.-56T>G (n.-56T>G) c.152T>G (p.Leu51Arg) | |
6 | g.159692804A>G | CA366296460 | SOD2 | c.83T>C (p.Leu28Pro) c.-56T>C (n.-56T>C) c.152T>C (p.Leu51Pro) | dbSNP |
6 | g.159692804A>T | CA366296462 | SOD2 | c.83T>A (p.Leu28His) c.-56T>A (n.-56T>A) c.152T>A (p.Leu51His) | dbSNP gnomAD v4 |
6 | g.159692804_159692805insCACGC | CA2518676425 | SOD2 | c.82_83insGCGTG (p.Leu28ArgfsTer?) c.-57_-56insGCGTG (n.-57_-56insGCGTG) c.151_152insGCGTG (p.Leu51ArgfsTer?) | |
6 | g.159692804_159692805insTCCTTTCCTAAT | CA2526683629 | SOD2 | c.82_83insATTAGGAAAGGA (p.Leu28HisfsTer2) c.-57_-56insATTAGGAAAGGA (n.-57_-56insATTAGGAAAGGA) c.151_152insATTAGGAAAGGA (p.Leu51HisfsTer2) | |
6 | g.159692804_159692805insTCCTTTCCTAATGGGTGTTTCTAGCCATGATAG | CA2523914379 | SOD2 | c.82_83insCTATCATGGCTAGAAACACCCATTAGGAAAGGA (p.Leu28ProfsTer9) c.-57_-56insCTATCATGGCTAGAAACACCCATTAGGAAAGGA (n.-57_-56insCTATCATGGCTAGAAACACCCATTAGGAAAGGA) c.151_152insCTATCATGGCTAGAAACACCCATTAGGAAAGGA (p.Leu51ProfsTer9) | |
6 | g.159692805G>A | CA366296465 | SOD2 | c.82C>T (p.Leu28Phe) c.-57C>T (n.-57C>T) c.151C>T (p.Leu51Phe) | gnomAD v4 |
6 | g.159692805G>C | CA366296466 | SOD2 | c.82C>G (p.Leu28Val) c.-57C>G (n.-57C>G) c.151C>G (p.Leu51Val) | |
6 | g.159692805G>T | CA366296468 | SOD2 | c.82C>A (p.Leu28Ile) c.-57C>A (n.-57C>A) c.151C>A (p.Leu51Ile) | |
6 | g.159692805_159692806insTACGTATTTCTTG | CA2503576229 | SOD2 | c.82_83insAAGAAATACGTAC (p.Leu28GlnfsTer?) c.-57_-56insAAGAAATACGTAC (n.-57_-56insAAGAAATACGTAC) c.151_152insAAGAAATACGTAC (p.Leu51GlnfsTer?) | |
6 | g.159692805_159692806insTACATATTTCTTGGCCATAAAAACTATGATCCTTTCCTAATGGGTGTTTCTAGCCATGATAGG | CA2524016907 | SOD2 | c.82_83insCTATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATATGTAC (p.Leu28ProfsTer9) c.-57_-56insCTATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATATGTAC (n.-57_-56insCTATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATATGTAC) c.151_152insCTATCATGGCTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATATGTAC (p.Leu51ProfsTer9) | |
6 | g.159692805_159692806insTACGTATTTCTTGGCCATAAAAACTATGATCCTTTCCTAAT | CA2529351382 | SOD2 | c.81_82insATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu28IlefsTer6) c.-58_-57insATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (n.-58_-57insATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA) c.150_151insATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu51IlefsTer6) | |
6 | g.159692805_159692806insTACGTATTTCTTGGCCATAAAAACTATGATCCTTTCCTAATGGGTGTTTCTA | CA2506019738 | SOD2 | c.81_82insTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu28Ter) c.-58_-57insTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (n.-58_-57insTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA) c.150_151insTAGAAACACCCATTAGGAAAGGATCATAGTTTTTATGGCCAAGAAATACGTA (p.Leu51Ter) | |
6 | g.159692806G>A | CA4078404 | SOD2 | c.81C>T (p.Ser27=) c.-58C>T (n.-58C>T) c.150C>T (p.Ser50=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692806G>C | CA366296471 | SOD2 | c.81C>G (p.Ser27Arg) c.-58C>G (n.-58C>G) c.150C>G (p.Ser50Arg) | |
6 | g.159692806G= | CA1676708850 | SOD2 | c.81C= (p.Ser27=) c.-58C= (n.-58C=) c.150C= (p.Ser50=) | |
6 | g.159692806G>T | CA4078403 | SOD2 | c.81C>A (p.Ser27Arg) c.-58C>A (n.-58C>A) c.150C>A (p.Ser50Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692806_159692807insT | CA2773769784 | SOD2 | c.80_81insA (p.Ser27ArgfsTer?) c.-59_-58insA (n.-59_-58insA) c.149_150insA (p.Ser50ArgfsTer?) | |
6 | g.159692807C>A | CA366296475 | SOD2 | c.80G>T (p.Ser27Ile) c.-59G>T (n.-59G>T) c.149G>T (p.Ser50Ile) | dbSNP |
6 | g.159692807C>G | CA366296477 | SOD2 | c.80G>C (p.Ser27Thr) c.-59G>C (n.-59G>C) c.149G>C (p.Ser50Thr) | dbSNP |
6 | g.159692807C>T | CA366296479 | SOD2 | c.80G>A (p.Ser27Asn) c.-59G>A (n.-59G>A) c.149G>A (p.Ser50Asn) | dbSNP gnomAD v4 |
6 | g.159692807_159692808insCATAAAAACTA | CA2563080268 | SOD2 | c.79_80insTAGTTTTTATG (p.Ser27IlefsTer?) c.-60_-59insTAGTTTTTATG (n.-60_-59insTAGTTTTTATG) c.148_149insTAGTTTTTATG (p.Ser50IlefsTer?) | |
6 | g.159692808T>A | CA366296483 | SOD2 | c.79A>T (p.Ser27Cys) c.-60A>T (n.-60A>T) c.148A>T (p.Ser50Cys) | dbSNP |
6 | g.159692808T>C | CA366296485 | SOD2 | c.79A>G (p.Ser27Gly) c.-60A>G (n.-60A>G) c.148A>G (p.Ser50Gly) | dbSNP COSMIC |
6 | g.159692808T>G | CA366296481 | SOD2 | c.79A>C (p.Ser27Arg) c.-60A>C (n.-60A>C) c.148A>C (p.Ser50Arg) | dbSNP |
6 | g.159692810_159692811del | CA2840015499 | SOD2 | c.78_79del (p.His26GlnfsTer?) c.-61_-60del (n.-61_-60del) c.147_148del (p.His49GlnfsTer?) | |
6 | g.159692808_159692809insCCTTTGGGGCGTC | CA2773769785 | SOD2 | c.78_79insGACGCCCCAAAGG (p.Ser27AspfsTer?) c.-61_-60insGACGCCCCAAAGG (n.-61_-60insGACGCCCCAAAGG) c.147_148insGACGCCCCAAAGG (p.Ser50AspfsTer?) | |
6 | g.159692809G>A | CA452863643 | SOD2 | c.78C>T (p.His26=) c.-61C>T (n.-61C>T) c.147C>T (p.His49=) | gnomAD v4 |
6 | g.159692809G>C | CA366296487 | SOD2 | c.78C>G (p.His26Gln) c.-61C>G (n.-61C>G) c.147C>G (p.His49Gln) | |
6 | g.159692809G>T | CA366296489 | SOD2 | c.78C>A (p.His26Gln) c.-61C>A (n.-61C>A) c.147C>A (p.His49Gln) | |
6 | g.159692809_159692810insATCCTTTCCTAATGGGTGTTTCTAGCCA | CA2569437405 | SOD2 | c.77_78insTGGCTAGAAACACCCATTAGGAAAGGAT (p.Ser27GlyfsTer2) c.-62_-61insTGGCTAGAAACACCCATTAGGAAAGGAT (n.-62_-61insTGGCTAGAAACACCCATTAGGAAAGGAT) c.146_147insTGGCTAGAAACACCCATTAGGAAAGGAT (p.Ser50GlyfsTer2) | |
6 | g.159692810T>A | CA366296491 | SOD2 | c.77A>T (p.His26Leu) c.-62A>T (n.-62A>T) c.146A>T (p.His49Leu) | dbSNP |
6 | g.159692810T>C | CA366296493 | SOD2 | c.77A>G (p.His26Arg) c.-62A>G (n.-62A>G) c.146A>G (p.His49Arg) | |
6 | g.159692810T>G | CA366296495 | SOD2 | c.77A>C (p.His26Pro) c.-62A>C (n.-62A>C) c.146A>C (p.His49Pro) | dbSNP |
6 | g.159692811G>A | CA4078405 | SOD2 | c.76C>T (p.His26Tyr) c.-63C>T (n.-63C>T) c.145C>T (p.His49Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692811G>C | CA366296498 | SOD2 | c.76C>G (p.His26Asp) c.-63C>G (n.-63C>G) c.145C>G (p.His49Asp) | |
6 | g.159692811G= | CA1676708851 | SOD2 | c.76C= (p.His26=) c.-63C= (n.-63C=) c.145C= (p.His49=) | |
6 | g.159692811G>T | CA366296500 | SOD2 | c.76C>A (p.His26Asn) c.-63C>A (n.-63C>A) c.145C>A (p.His49Asn) | dbSNP |
6 | g.159692812C>A | CA366296501 | SOD2 | c.75G>T (p.Lys25Asn) c.-64G>T (n.-64G>T) c.144G>T (p.Lys48Asn) | COSMIC |
6 | g.159692812C>G | CA366296502 | SOD2 | c.75G>C (p.Lys25Asn) c.-64G>C (n.-64G>C) c.144G>C (p.Lys48Asn) | dbSNP |
6 | g.159692812C>T | CA452863648 | SOD2 | c.75G>A (p.Lys25=) c.-64G>A (n.-64G>A) c.144G>A (p.Lys48=) | dbSNP |
6 | g.159692813T>A | CA366296505 | SOD2 | c.74A>T (p.Lys25Met) c.-65A>T (n.-65A>T) c.143A>T (p.Lys48Met) | |
6 | g.159692813T>C | CA366296507 | SOD2 | c.74A>G (p.Lys25Arg) c.-65A>G (n.-65A>G) c.143A>G (p.Lys48Arg) | |
6 | g.159692813T>G | CA366296508 | SOD2 | c.74A>C (p.Lys25Thr) c.-65A>C (n.-65A>C) c.143A>C (p.Lys48Thr) | |
6 | g.159692814T>A | CA366296514 | SOD2 | c.73A>T (p.Lys25Ter) c.-66A>T (n.-66A>T) c.142A>T (p.Lys48Ter) | |
6 | g.159692814T>C | CA366296513 | SOD2 | c.73A>G (p.Lys25Glu) c.-66A>G (n.-66A>G) c.142A>G (p.Lys48Glu) | dbSNP |
6 | g.159692814T>G | CA366296511 | SOD2 | c.73A>C (p.Lys25Gln) c.-66A>C (n.-66A>C) c.142A>C (p.Lys48Gln) | |
6 | g.159692815C>A | CA366296516 | SOD2 | c.72G>T (p.Gln24His) c.-67G>T (n.-67G>T) c.141G>T (p.Gln47His) | dbSNP |
6 | g.159692815C= | CA1676708852 | SOD2 | c.72G= (p.Gln24=) c.-67G= (n.-67G=) c.141G= (p.Gln47=) | |
6 | g.159692815C>G | CA366296518 | SOD2 | c.72G>C (p.Gln24His) c.-67G>C (n.-67G>C) c.141G>C (p.Gln47His) | dbSNP |
6 | g.159692815C>T | CA452863651 | SOD2 | c.72G>A (p.Gln24=) c.-67G>A (n.-67G>A) c.141G>A (p.Gln47=) | dbSNP |
6 | g.159692816T>A | CA366296522 | SOD2 | c.71A>T (p.Gln24Leu) c.-68A>T (n.-68A>T) c.140A>T (p.Gln47Leu) | gnomAD v4 |
6 | g.159692816T>C | CA366296523 | SOD2 | c.71A>G (p.Gln24Arg) c.-68A>G (n.-68A>G) c.140A>G (p.Gln47Arg) | dbSNP |
6 | g.159692816T>G | CA366296525 | SOD2 | c.71A>C (p.Gln24Pro) c.-68A>C (n.-68A>C) c.140A>C (p.Gln47Pro) | gnomAD v4 |
6 | g.159692816T= | CA1676708853 | SOD2 | c.71A= (p.Gln24=) c.-68A= (n.-68A=) c.140A= (p.Gln47=) | |
6 | g.159692816dup | CA4078406 | SOD2 | c.71dup (p.Lys25GlufsTer?) c.-68dup (n.-68dup) c.140dup (p.Lys48GlufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692817G>A | CA366296528 | SOD2 | c.70C>T (p.Gln24Ter) c.-69C>T (n.-69C>T) c.139C>T (p.Gln47Ter) | dbSNP gnomAD v4 |
6 | g.159692817G>C | CA366296530 | SOD2 | c.70C>G (p.Gln24Glu) c.-69C>G (n.-69C>G) c.139C>G (p.Gln47Glu) | |
6 | g.159692817G= | CA1676708854 | SOD2 | c.70C= (p.Gln24=) c.-69C= (n.-69C=) c.139C= (p.Gln47=) | |
6 | g.159692817G>T | CA366296532 | SOD2 | c.70C>A (p.Gln24Lys) c.-69C>A (n.-69C>A) c.139C>A (p.Gln47Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692818C>A | CA366296534 | SOD2 | c.69G>T (p.Arg23Ser) c.-70G>T (n.-70G>T) c.138G>T (p.Arg46Ser) | |
6 | g.159692818C= | CA1676708855 | SOD2 | c.69G= (p.Arg23=) c.-70G= (n.-70G=) c.138G= (p.Arg46=) | |
6 | g.159692818C>G | CA366296536 | SOD2 | c.69G>C (p.Arg23Ser) c.-70G>C (n.-70G>C) c.138G>C (p.Arg46Ser) | dbSNP |
6 | g.159692818C>T | CA452863656 | SOD2 | c.69G>A (p.Arg23=) c.-70G>A (n.-70G>A) c.138G>A (p.Arg46=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692819C>A | CA366296539 | SOD2 | c.68G>T (p.Arg23Met) c.-71G>T (n.-71G>T) c.137G>T (p.Arg46Met) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692819C= | CA1676708856 | SOD2 | c.68G= (p.Arg23=) c.-71G= (n.-71G=) c.137G= (p.Arg46=) | |
6 | g.159692819C>G | CA366296540 | SOD2 | c.68G>C (p.Arg23Thr) c.-71G>C (n.-71G>C) c.137G>C (p.Arg46Thr) | |
6 | g.159692819C>T | CA4078407 | SOD2 | c.68G>A (p.Arg23Lys) c.-71G>A (n.-71G>A) c.137G>A (p.Arg46Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692820T>A | CA366296543 | SOD2 | c.67A>T (p.Arg23Trp) c.-72A>T (n.-72A>T) c.136A>T (p.Arg46Trp) | |
6 | g.159692820T>C | CA4078408 | SOD2 | c.67A>G (p.Arg23Gly) c.-72A>G (n.-72A>G) c.136A>G (p.Arg46Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692820T>G | CA452863658 | SOD2 | c.67A>C (p.Arg23=) c.-72A>C (n.-72A>C) c.136A>C (p.Arg46=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692820T= | CA1676708857 | SOD2 | c.67A= (p.Arg23=) c.-72A= (n.-72A=) c.136A= (p.Arg46=) | |
6 | g.159692821G>A | CA452863660 | SOD2 | c.66C>T (p.Ser22=) c.-73C>T (n.-73C>T) c.135C>T (p.Ser45=) | dbSNP gnomAD v2 |
6 | g.159692821G>C | CA452863663 | SOD2 | c.66C>G (p.Ser22=) c.-73C>G (n.-73C>G) c.135C>G (p.Ser45=) | |
6 | g.159692821G= | CA1676708858 | SOD2 | c.66C= (p.Ser22=) c.-73C= (n.-73C=) c.135C= (p.Ser45=) | |
6 | g.159692821G>T | CA452863662 | SOD2 | c.66C>A (p.Ser22=) c.-73C>A (n.-73C>A) c.135C>A (p.Ser45=) | |
6 | g.159692822G>A | CA366296546 | SOD2 | c.65C>T (p.Ser22Phe) c.-74C>T (n.-74C>T) c.134C>T (p.Ser45Phe) | |
6 | g.159692822G>C | CA366296550 | SOD2 | c.65C>G (p.Ser22Cys) c.-74C>G (n.-74C>G) c.134C>G (p.Ser45Cys) | |
6 | g.159692822G>T | CA366296547 | SOD2 | c.65C>A (p.Ser22Tyr) c.-74C>A (n.-74C>A) c.134C>A (p.Ser45Tyr) | gnomAD v4 |
6 | g.159692823A= | CA1676708859 | SOD2 | c.64T= (p.Ser22=) c.-75T= (n.-75T=) c.133T= (p.Ser45=) | |
6 | g.159692823A>C | CA366296552 | SOD2 | c.64T>G (p.Ser22Ala) c.-75T>G (n.-75T>G) c.133T>G (p.Ser45Ala) | |
6 | g.159692823A>G | CA366296556 | SOD2 | c.64T>C (p.Ser22Pro) c.-75T>C (n.-75T>C) c.133T>C (p.Ser45Pro) | dbSNP gnomAD v4 |
6 | g.159692823A>T | CA366296553 | SOD2 | c.64T>A (p.Ser22Thr) c.-75T>A (n.-75T>A) c.133T>A (p.Ser45Thr) | dbSNP |
6 | g.159692824G>A | CA4078409 | SOD2 | c.63C>T (p.Gly21=) c.-76C>T (n.-76C>T) c.132C>T (p.Gly44=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692824G>C | CA452863667 | SOD2 | c.63C>G (p.Gly21=) c.-76C>G (n.-76C>G) c.132C>G (p.Gly44=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692824G= | CA1676708860 | SOD2 | c.63C= (p.Gly21=) c.-76C= (n.-76C=) c.132C= (p.Gly44=) | |
6 | g.159692824G>T | CA452863668 | SOD2 | c.63C>A (p.Gly21=) c.-76C>A (n.-76C>A) c.132C>A (p.Gly44=) | |
6 | g.159692825C>A | CA366296559 | SOD2 | c.62G>T (p.Gly21Val) c.-77G>T (n.-77G>T) c.131G>T (p.Gly44Val) | gnomAD v4 |
6 | g.159692825C= | CA1676708861 | SOD2 | c.62G= (p.Gly21=) c.-77G= (n.-77G=) c.131G= (p.Gly44=) | |
6 | g.159692825C>G | CA366296561 | SOD2 | c.62G>C (p.Gly21Ala) c.-77G>C (n.-77G>C) c.131G>C (p.Gly44Ala) | dbSNP |
6 | g.159692825C>T | CA366296563 | SOD2 | c.62G>A (p.Gly21Asp) c.-77G>A (n.-77G>A) c.131G>A (p.Gly44Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692827del | CA2680994544 | SOD2 | c.62del (p.Gly21AlafsTer?) c.-77del (n.-77del) c.131del (p.Gly44AlafsTer?) | gnomAD v4 |
6 | g.159692826C>A | CA366296565 | SOD2 | c.61G>T (p.Gly21Cys) c.-78G>T (n.-78G>T) c.130G>T (p.Gly44Cys) | dbSNP |
6 | g.159692826C>G | CA366296566 | SOD2 | c.61G>C (p.Gly21Arg) c.-78G>C (n.-78G>C) c.130G>C (p.Gly44Arg) | |
6 | g.159692826C>T | CA366296568 | SOD2 | c.61G>A (p.Gly21Ser) c.-78G>A (n.-78G>A) c.130G>A (p.Gly44Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692827C>A | CA452863672 | SOD2 | c.60G>T (p.Leu20=) c.-79G>T (n.-79G>T) c.129G>T (p.Leu43=) | |
6 | g.159692827C= | CA1676708862 | SOD2 | c.60G= (p.Leu20=) c.-79G= (n.-79G=) c.129G= (p.Leu43=) | |
6 | g.159692827C>G | CA452863674 | SOD2 | c.60G>C (p.Leu20=) c.-79G>C (n.-79G>C) c.129G>C (p.Leu43=) | |
6 | g.159692827C>T | CA4078410 | SOD2 | c.60G>A (p.Leu20=) c.-79G>A (n.-79G>A) c.129G>A (p.Leu43=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692828A= | CA1676708863 | SOD2 | c.59T= (p.Leu20=) c.-80T= (n.-80T=) c.128T= (p.Leu43=) | |
6 | g.159692828A>C | CA366296570 | SOD2 | c.59T>G (p.Leu20Arg) c.-80T>G (n.-80T>G) c.128T>G (p.Leu43Arg) | dbSNP |
6 | g.159692828A>G | CA4078411 | SOD2 | c.59T>C (p.Leu20Pro) c.-80T>C (n.-80T>C) c.128T>C (p.Leu43Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692828A>T | CA366296573 | SOD2 | c.59T>A (p.Leu20Gln) c.-80T>A (n.-80T>A) c.128T>A (p.Leu43Gln) | dbSNP |
6 | g.159692829G>A | CA452863680 | SOD2 | c.58C>T (p.Leu20=) c.-81C>T (n.-81C>T) c.127C>T (p.Leu43=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692829G>C | CA366296578 | SOD2 | c.58C>G (p.Leu20Val) c.-81C>G (n.-81C>G) c.127C>G (p.Leu43Val) | dbSNP |
6 | g.159692829G= | CA1676708864 | SOD2 | c.58C= (p.Leu20=) c.-81C= (n.-81C=) c.127C= (p.Leu43=) | |
6 | g.159692829G>T | CA366296576 | SOD2 | c.58C>A (p.Leu20Met) c.-81C>A (n.-81C>A) c.127C>A (p.Leu43Met) | |
6 | g.159692830A>C | CA366296580 | SOD2 | c.57T>G (p.Tyr19Ter) c.-82T>G (n.-82T>G) c.126T>G (p.Tyr42Ter) | dbSNP |
6 | g.159692830A>G | CA452863681 | SOD2 | c.57T>C (p.Tyr19=) c.-82T>C (n.-82T>C) c.126T>C (p.Tyr42=) | |
6 | g.159692830A>T | CA366296581 | SOD2 | c.57T>A (p.Tyr19Ter) c.-82T>A (n.-82T>A) c.126T>A (p.Tyr42Ter) | dbSNP |
6 | g.159692831T>A | CA366296583 | SOD2 | c.56A>T (p.Tyr19Phe) c.-83A>T (n.-83A>T) c.125A>T (p.Tyr42Phe) | |
6 | g.159692831T>C | CA366296584 | SOD2 | c.56A>G (p.Tyr19Cys) c.-83A>G (n.-83A>G) c.125A>G (p.Tyr42Cys) | dbSNP |
6 | g.159692831T>G | CA366296586 | SOD2 | c.56A>C (p.Tyr19Ser) c.-83A>C (n.-83A>C) c.125A>C (p.Tyr42Ser) | dbSNP |
6 | g.159692831T= | CA1676708865 | SOD2 | c.56A= (p.Tyr19=) c.-83A= (n.-83A=) c.125A= (p.Tyr42=) | |
6 | g.159692832A= | CA1676708866 | SOD2 | c.55T= (p.Tyr19=) c.-84T= (n.-84T=) c.124T= (p.Tyr42=) | |
6 | g.159692832A>C | CA366296588 | SOD2 | c.55T>G (p.Tyr19Asp) c.-84T>G (n.-84T>G) c.124T>G (p.Tyr42Asp) | dbSNP gnomAD v4 |
6 | g.159692832A>G | CA366296590 | SOD2 | c.55T>C (p.Tyr19His) c.-84T>C (n.-84T>C) c.124T>C (p.Tyr42His) | |
6 | g.159692832A>T | CA366296591 | SOD2 | c.55T>A (p.Tyr19Asn) c.-84T>A (n.-84T>A) c.124T>A (p.Tyr42Asn) | |
6 | g.159692833C>A | CA452863687 | SOD2 | c.54G>T (p.Gly18=) c.-85G>T (n.-85G>T) c.123G>T (p.Gly41=) | dbSNP |
6 | g.159692833C= | CA1676708867 | SOD2 | c.54G= (p.Gly18=) c.-85G= (n.-85G=) c.123G= (p.Gly41=) | |
6 | g.159692833C>G | CA452863688 | SOD2 | c.54G>C (p.Gly18=) c.-85G>C (n.-85G>C) c.123G>C (p.Gly41=) | dbSNP |
6 | g.159692833C>T | CA452863689 | SOD2 | c.54G>A (p.Gly18=) c.-85G>A (n.-85G>A) c.123G>A (p.Gly41=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692836del | CA2840595704 | SOD2 | c.54del (p.Tyr19IlefsTer?) c.-85del (n.-85del) c.123del (p.Tyr42IlefsTer?) | |
6 | g.159692834C>A | CA366296593 | SOD2 | c.53G>T (p.Gly18Val) c.-86G>T (n.-86G>T) c.122G>T (p.Gly41Val) | dbSNP |
6 | g.159692834C>G | CA366296595 | SOD2 | c.53G>C (p.Gly18Ala) c.-86G>C (n.-86G>C) c.122G>C (p.Gly41Ala) | |
6 | g.159692834C>T | CA366296597 | SOD2 | c.53G>A (p.Gly18Glu) c.-86G>A (n.-86G>A) c.122G>A (p.Gly41Glu) | gnomAD v4 |
6 | g.159692835C>A | CA4078412 | SOD2 | c.52G>T (p.Gly18Trp) c.-87G>T (n.-87G>T) c.121G>T (p.Gly41Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692835C= | CA1676708868 | SOD2 | c.52G= (p.Gly18=) c.-87G= (n.-87G=) c.121G= (p.Gly41=) | |
6 | g.159692835C>G | CA366296602 | SOD2 | c.52G>C (p.Gly18Arg) c.-87G>C (n.-87G>C) c.121G>C (p.Gly41Arg) | dbSNP |
6 | g.159692835C>T | CA366296599 | SOD2 | c.52G>A (p.Gly18Arg) c.-87G>A (n.-87G>A) c.121G>A (p.Gly41Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692836C>A | CA366296605 | SOD2 | c.51G>T (p.Leu17Phe) c.-88G>T (n.-88G>T) c.120G>T (p.Leu40Phe) | gnomAD v4 |
6 | g.159692836C= | CA1676708869 | SOD2 | c.51G= (p.Leu17=) c.-88G= (n.-88G=) c.120G= (p.Leu40=) | |
6 | g.159692836C>G | CA366296607 | SOD2 | c.51G>C (p.Leu17Phe) c.-88G>C (n.-88G>C) c.120G>C (p.Leu40Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692836C>T | CA4078413 | SOD2 | c.51G>A (p.Leu17=) c.-88G>A (n.-88G>A) c.120G>A (p.Leu40=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692837A>C | CA366296610 | SOD2 | c.50T>G (p.Leu17Trp) c.-89T>G (n.-89T>G) c.119T>G (p.Leu40Trp) | dbSNP |
6 | g.159692837A>G | CA366296612 | SOD2 | c.50T>C (p.Leu17Ser) c.-89T>C (n.-89T>C) c.119T>C (p.Leu40Ser) | |
6 | g.159692837A>T | CA366296614 | SOD2 | c.50T>A (p.Leu17Ter) c.-89T>A (n.-89T>A) c.119T>A (p.Leu40Ter) | |
6 | g.159692840del | CA2680994545 | SOD2 | c.50del (p.Leu17TrpfsTer?) c.-89del (n.-89del) c.119del (p.Leu40TrpfsTer?) | gnomAD v4 |
6 | g.159692838A>C | CA366296618 | SOD2 | c.49T>G (p.Leu17Val) c.-90T>G (n.-90T>G) c.118T>G (p.Leu40Val) | |
6 | g.159692838A>G | CA452863699 | SOD2 | c.49T>C (p.Leu17=) c.-90T>C (n.-90T>C) c.118T>C (p.Leu40=) | |
6 | g.159692838A>T | CA366296616 | SOD2 | c.49T>A (p.Leu17Met) c.-90T>A (n.-90T>A) c.118T>A (p.Leu40Met) | |
6 | g.159692839A>C | CA452863700 | SOD2 | c.48T>G (p.Val16=) c.-91T>G (n.-91T>G) c.117T>G (p.Val39=) | dbSNP gnomAD v4 |
6 | g.159692839A>G | CA452863701 | SOD2 | c.48T>C (p.Val16=) c.-91T>C (n.-91T>C) c.117T>C (p.Val39=) | |
6 | g.159692839A>T | CA452863703 | SOD2 | c.48T>A (p.Val16=) c.-91T>A (n.-91T>A) c.117T>A (p.Val39=) | |
6 | g.159692839_159692840insCACACCCAAC | CA2773769786 | SOD2 | c.47_48insGTTGGGTGTG (p.Tyr19ValfsTer?) c.-92_-91insGTTGGGTGTG (n.-92_-91insGTTGGGTGTG) c.116_117insGTTGGGTGTG (p.Tyr42ValfsTer?) | |
6 | g.159692840A= | CA1630834632 | SOD2 | c.47T= (p.Val16=) c.-92T= (n.-92T=) c.116T= (p.Val39=) | |
6 | g.159692840A>C | CA366296620 | SOD2 | c.47T>G (p.Val16Gly) c.-92T>G (n.-92T>G) c.116T>G (p.Val39Gly) | gnomAD v3 gnomAD v4 |
6 | g.159692840A>G | CA124294 | SOD2 | c.47T>C (p.Val16Ala) c.-92T>C (n.-92T>C) c.116T>C (p.Val39Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692840A>T | CA366296623 | SOD2 | c.47T>A (p.Val16Asp) c.-92T>A (n.-92T>A) c.116T>A (p.Val39Asp) | gnomAD v4 |
6 | g.159692841C>A | CA366296625 | SOD2 | c.46G>T (p.Val16Phe) c.-93G>T (n.-93G>T) c.115G>T (p.Val39Phe) | dbSNP |
6 | g.159692841C= | CA1676708870 | SOD2 | c.46G= (p.Val16=) c.-93G= (n.-93G=) c.115G= (p.Val39=) | |
6 | g.159692841C>G | CA4078414 | SOD2 | c.46G>C (p.Val16Leu) c.-93G>C (n.-93G>C) c.115G>C (p.Val39Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692841C>T | CA366296627 | SOD2 | c.46G>A (p.Val16Ile) c.-93G>A (n.-93G>A) c.115G>A (p.Val39Ile) | dbSNP gnomAD v4 |
6 | g.159692841_159692842insAACCCAAACACACCCAACA | CA2773769787 | SOD2 | c.45_46insTGTTGGGTGTGTTTGGGTT (p.Val16CysfsTer?) c.-94_-93insTGTTGGGTGTGTTTGGGTT (n.-94_-93insTGTTGGGTGTGTTTGGGTT) c.114_115insTGTTGGGTGTGTTTGGGTT (p.Val39CysfsTer?) | |
6 | g.159692842C>A | CA452863713 | SOD2 | c.45G>T (p.Pro15=) c.-94G>T (n.-94G>T) c.114G>T (p.Pro38=) | dbSNP |
6 | g.159692842C= | CA1676708871 | SOD2 | c.45G= (p.Pro15=) c.-94G= (n.-94G=) c.114G= (p.Pro38=) | |
6 | g.159692842C>G | CA452863712 | SOD2 | c.45G>C (p.Pro15=) c.-94G>C (n.-94G>C) c.114G>C (p.Pro38=) | dbSNP |
6 | g.159692842C>T | CA452863710 | SOD2 | c.45G>A (p.Pro15=) c.-94G>A (n.-94G>A) c.114G>A (p.Pro38=) | dbSNP COSMIC |
6 | g.159692843G>A | CA366296628 | SOD2 | c.44C>T (p.Pro15Leu) c.-95C>T (n.-95C>T) c.113C>T (p.Pro38Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692843G>C | CA366296629 | SOD2 | c.44C>G (p.Pro15Arg) c.-95C>G (n.-95C>G) c.113C>G (p.Pro38Arg) | dbSNP |
6 | g.159692843G= | CA1676708872 | SOD2 | c.44C= (p.Pro15=) c.-95C= (n.-95C=) c.113C= (p.Pro38=) | |
6 | g.159692843G>T | CA151086861 | SOD2 | c.44C>A (p.Pro15Gln) c.-95C>A (n.-95C>A) c.113C>A (p.Pro38Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692844G>A | CA366296631 | SOD2 | c.43C>T (p.Pro15Ser) c.-96C>T (n.-96C>T) c.112C>T (p.Pro38Ser) | dbSNP |
6 | g.159692844G>C | CA366296632 | SOD2 | c.43C>G (p.Pro15Ala) c.-96C>G (n.-96C>G) c.112C>G (p.Pro38Ala) | dbSNP gnomAD v4 |
6 | g.159692844G>T | CA366296633 | SOD2 | c.43C>A (p.Pro15Thr) c.-96C>A (n.-96C>A) c.112C>A (p.Pro38Thr) | gnomAD v4 |
6 | g.159692845A= | CA1676708873 | SOD2 | c.42T= (p.Ala14=) c.-97T= (n.-97T=) c.111T= (p.Ala37=) | |
6 | g.159692845A>C | CA452863717 | SOD2 | c.42T>G (p.Ala14=) c.-97T>G (n.-97T>G) c.111T>G (p.Ala37=) | |
6 | g.159692845A>G | CA452863719 | SOD2 | c.42T>C (p.Ala14=) c.-97T>C (n.-97T>C) c.111T>C (p.Ala37=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692845A>T | CA452863721 | SOD2 | c.42T>A (p.Ala14=) c.-97T>A (n.-97T>A) c.111T>A (p.Ala37=) | dbSNP |
6 | g.159692846G>A | CA366296635 | SOD2 | c.41C>T (p.Ala14Val) c.-98C>T (n.-98C>T) c.110C>T (p.Ala37Val) | gnomAD v4 |
6 | g.159692846G>C | CA366296636 | SOD2 | c.41C>G (p.Ala14Gly) c.-98C>G (n.-98C>G) c.110C>G (p.Ala37Gly) | gnomAD v4 |
6 | g.159692846G>T | CA366296637 | SOD2 | c.41C>A (p.Ala14Asp) c.-98C>A (n.-98C>A) c.110C>A (p.Ala37Asp) | gnomAD v4 |
6 | g.159692847C>A | CA151086874 | SOD2 | c.40G>T (p.Ala14Ser) c.-99G>T (n.-99G>T) c.109G>T (p.Ala37Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692847C= | CA1676708874 | SOD2 | c.40G= (p.Ala14=) c.-99G= (n.-99G=) c.109G= (p.Ala37=) | |
6 | g.159692847C>G | CA366296639 | SOD2 | c.40G>C (p.Ala14Pro) c.-99G>C (n.-99G>C) c.109G>C (p.Ala37Pro) | dbSNP |
6 | g.159692847C>T | CA366296641 | SOD2 | c.40G>A (p.Ala14Thr) c.-99G>A (n.-99G>A) c.109G>A (p.Ala37Thr) | dbSNP |