| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.24799838C>A | CA2876258 | SOD3 | c.317C>A (p.Pro106Gln) n.507C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799838C= | CA1445032705 | SOD3 | c.317C= (p.Pro106=) n.507C= | |
| 4 | g.24799838C>G | CA356639104 | SOD3 | c.317C>G (p.Pro106Arg) n.507C>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799838C>T | CA356639105 | SOD3 | c.317C>T (p.Pro106Leu) n.507C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799839G>A | CA438901950 | SOD3 | c.318G>A (p.Pro106=) n.508G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799839G>C | CA438901952 | SOD3 | c.318G>C (p.Pro106=) n.508G>C | |
| 4 | g.24799839G= | CA1445032708 | SOD3 | c.318G= (p.Pro106=) n.508G= | |
| 4 | g.24799839G>T | CA438901951 | SOD3 | c.318G>T (p.Pro106=) n.508G>T | gnomAD v4 |
| 4 | g.24799840A>C | CA356639106 | SOD3 | c.319A>C (p.Asn107His) n.509A>C | |
| 4 | g.24799840A>G | CA356639107 | SOD3 | c.319A>G (p.Asn107Asp) n.509A>G | |
| 4 | g.24799840A>T | CA356639108 | SOD3 | c.319A>T (p.Asn107Tyr) n.509A>T | |
| 4 | g.24799841A>C | CA356639110 | SOD3 | c.320A>C (p.Asn107Thr) n.510A>C | |
| 4 | g.24799841A>G | CA356639111 | SOD3 | c.320A>G (p.Asn107Ser) n.510A>G | |
| 4 | g.24799841A>T | CA356639113 | SOD3 | c.320A>T (p.Asn107Ile) n.510A>T | |
| 4 | g.24799842C>A | CA356639115 | SOD3 | c.321C>A (p.Asn107Lys) n.511C>A | |
| 4 | g.24799842C>G | CA356639114 | SOD3 | c.321C>G (p.Asn107Lys) n.511C>G | |
| 4 | g.24799842C>T | CA438901955 | SOD3 | c.321C>T (p.Asn107=) n.511C>T | |
| 4 | g.24799843A= | CA1445032711 | SOD3 | c.322A= (p.Ser108=) n.512A= | |
| 4 | g.24799843A>C | CA356639116 | SOD3 | c.322A>C (p.Ser108Arg) n.512A>C | |
| 4 | g.24799843A>G | CA2876259 | SOD3 | c.322A>G (p.Ser108Gly) n.512A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799843A>T | CA356639117 | SOD3 | c.322A>T (p.Ser108Cys) n.512A>T | |
| 4 | g.24799844G>A | CA356639118 | SOD3 | c.323G>A (p.Ser108Asn) n.513G>A | gnomAD v4 |
| 4 | g.24799844G>C | CA356639119 | SOD3 | c.323G>C (p.Ser108Thr) n.513G>C | |
| 4 | g.24799844G= | CA1445032713 | SOD3 | c.323G= (p.Ser108=) n.513G= | |
| 4 | g.24799844G>T | CA356639120 | SOD3 | c.323G>T (p.Ser108Ile) n.513G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799845C>A | CA356639124 | SOD3 | c.324C>A (p.Ser108Arg) n.514C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799845C= | CA1445032715 | SOD3 | c.324C= (p.Ser108=) n.514C= | |
| 4 | g.24799845C>G | CA356639123 | SOD3 | c.324C>G (p.Ser108Arg) n.514C>G | |
| 4 | g.24799845C>T | CA438901959 | SOD3 | c.324C>T (p.Ser108=) n.514C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799846T>A | CA356639125 | SOD3 | c.325T>A (p.Ser109Thr) n.515T>A | |
| 4 | g.24799846T>C | CA2876260 | SOD3 | c.325T>C (p.Ser109Pro) n.515T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799846T>G | CA356639126 | SOD3 | c.325T>G (p.Ser109Ala) n.515T>G | |
| 4 | g.24799846T= | CA1445032718 | SOD3 | c.325T= (p.Ser109=) n.515T= | |
| 4 | g.24799847C>A | CA356639127 | SOD3 | c.326C>A (p.Ser109Tyr) n.516C>A | |
| 4 | g.24799847C>G | CA356639129 | SOD3 | c.326C>G (p.Ser109Cys) n.516C>G | |
| 4 | g.24799847C>T | CA356639131 | SOD3 | c.326C>T (p.Ser109Phe) n.516C>T | |
| 4 | g.24799848C>A | CA438901961 | SOD3 | c.327C>A (p.Ser109=) n.517C>A | gnomAD v4 |
| 4 | g.24799848C>G | CA438901962 | SOD3 | c.327C>G (p.Ser109=) n.517C>G | |
| 4 | g.24799848C>T | CA438901963 | SOD3 | c.327C>T (p.Ser109=) n.517C>T | gnomAD v4 |
| 4 | g.24799849A= | CA1445032720 | SOD3 | c.328A= (p.Ser110=) n.518A= | |
| 4 | g.24799849A>C | CA356639133 | SOD3 | c.328A>C (p.Ser110Arg) n.518A>C | |
| 4 | g.24799849A>G | CA356639137 | SOD3 | c.328A>G (p.Ser110Gly) n.518A>G | dbSNP gnomAD v4 |
| 4 | g.24799849A>T | CA2876261 | SOD3 | c.328A>T (p.Ser110Cys) n.518A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799850G>A | CA356639140 | SOD3 | c.329G>A (p.Ser110Asn) n.519G>A | |
| 4 | g.24799850G>C | CA356639141 | SOD3 | c.329G>C (p.Ser110Thr) n.519G>C | |
| 4 | g.24799850G>T | CA356639144 | SOD3 | c.329G>T (p.Ser110Ile) n.519G>T | gnomAD v4 |
| 4 | g.24799851C>A | CA356639146 | SOD3 | c.330C>A (p.Ser110Arg) n.520C>A | gnomAD v4 |
| 4 | g.24799851C= | CA1445032723 | SOD3 | c.330C= (p.Ser110=) n.520C= | |
| 4 | g.24799851C>G | CA356639148 | SOD3 | c.330C>G (p.Ser110Arg) n.520C>G | |
| 4 | g.24799851C>T | CA94297229 | SOD3 | c.330C>T (p.Ser110=) n.520C>T | dbSNP gnomAD v4 |
| 4 | g.24799852C>A | CA356639151 | SOD3 | c.331C>A (p.Arg111Ser) n.521C>A | gnomAD v4 |
| 4 | g.24799852C= | CA1445032725 | SOD3 | c.331C= (p.Arg111=) n.521C= | |
| 4 | g.24799852C>G | CA356639150 | SOD3 | c.331C>G (p.Arg111Gly) n.521C>G | |
| 4 | g.24799852C>T | CA356639149 | SOD3 | c.331C>T (p.Arg111Cys) n.521C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799853G>A | CA356639152 | SOD3 | c.332G>A (p.Arg111His) n.522G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799853G>C | CA356639153 | SOD3 | c.332G>C (p.Arg111Pro) n.522G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799853G= | CA1445032727 | SOD3 | c.332G= (p.Arg111=) n.522G= | |
| 4 | g.24799853G>T | CA356639155 | SOD3 | c.332G>T (p.Arg111Leu) n.522G>T | gnomAD v4 |
| 4 | g.24799854C>A | CA438901965 | SOD3 | c.333C>A (p.Arg111=) n.523C>A | |
| 4 | g.24799854C= | CA1445032729 | SOD3 | c.333C= (p.Arg111=) n.523C= | |
| 4 | g.24799854C>G | CA438901966 | SOD3 | c.333C>G (p.Arg111=) n.523C>G | |
| 4 | g.24799854C>T | CA438901967 | SOD3 | c.333C>T (p.Arg111=) n.523C>T | dbSNP gnomAD v4 |
| 4 | g.24799855G>A | CA356639157 | SOD3 | c.334G>A (p.Ala112Thr) n.524G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799855G>C | CA356639158 | SOD3 | c.334G>C (p.Ala112Pro) n.524G>C | |
| 4 | g.24799855G= | CA1445032731 | SOD3 | c.334G= (p.Ala112=) n.524G= | |
| 4 | g.24799855G>T | CA2876262 | SOD3 | c.334G>T (p.Ala112Ser) n.524G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799856C>A | CA356639160 | SOD3 | c.335C>A (p.Ala112Asp) n.525C>A | |
| 4 | g.24799856C>G | CA356639163 | SOD3 | c.335C>G (p.Ala112Gly) n.525C>G | |
| 4 | g.24799856C>T | CA356639162 | SOD3 | c.335C>T (p.Ala112Val) n.525C>T | gnomAD v4 |
| 4 | g.24799857C>A | CA438901971 | SOD3 | c.336C>A (p.Ala112=) n.526C>A | gnomAD v4 |
| 4 | g.24799857C>G | CA438901972 | SOD3 | c.336C>G (p.Ala112=) n.526C>G | |
| 4 | g.24799857C>T | CA438901973 | SOD3 | c.336C>T (p.Ala112=) n.526C>T | gnomAD v4 |
| 4 | g.24799858A= | CA1445032736 | SOD3 | c.337A= (p.Ile113=) n.527A= | |
| 4 | g.24799858A>C | CA356639164 | SOD3 | c.337A>C (p.Ile113Leu) n.527A>C | |
| 4 | g.24799858A>G | CA356639165 | SOD3 | c.337A>G (p.Ile113Val) n.527A>G | |
| 4 | g.24799858A>T | CA356639167 | SOD3 | c.337A>T (p.Ile113Phe) n.527A>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799859T>A | CA356639171 | SOD3 | c.338T>A (p.Ile113Asn) n.528T>A | gnomAD v4 |
| 4 | g.24799859T>C | CA356639172 | SOD3 | c.338T>C (p.Ile113Thr) n.528T>C | gnomAD v4 |
| 4 | g.24799859T>G | CA356639174 | SOD3 | c.338T>G (p.Ile113Ser) n.528T>G | |
| 4 | g.24799860C>A | CA438901976 | SOD3 | c.339C>A (p.Ile113=) n.529C>A | gnomAD v4 |
| 4 | g.24799860C= | CA1445032740 | SOD3 | c.339C= (p.Ile113=) n.529C= | |
| 4 | g.24799860C>G | CA356639175 | SOD3 | c.339C>G (p.Ile113Met) n.529C>G | |
| 4 | g.24799860C>T | CA438901975 | SOD3 | c.339C>T (p.Ile113=) n.529C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799861C>A | CA356639177 | SOD3 | c.340C>A (p.His114Asn) n.530C>A | |
| 4 | g.24799861C>G | CA356639179 | SOD3 | c.340C>G (p.His114Asp) n.530C>G | |
| 4 | g.24799861C>T | CA356639180 | SOD3 | c.340C>T (p.His114Tyr) n.530C>T | |
| 4 | g.24799862A>C | CA356639181 | SOD3 | c.341A>C (p.His114Pro) n.531A>C | |
| 4 | g.24799862A>G | CA356639183 | SOD3 | c.341A>G (p.His114Arg) n.531A>G | gnomAD v4 |
| 4 | g.24799862A>T | CA356639182 | SOD3 | c.341A>T (p.His114Leu) n.531A>T | |
| 4 | g.24799863C>A | CA356639184 | SOD3 | c.342C>A (p.His114Gln) n.532C>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799863C= | CA1445032744 | SOD3 | c.342C= (p.His114=) n.532C= | |
| 4 | g.24799863C>G | CA356639185 | SOD3 | c.342C>G (p.His114Gln) n.532C>G | |
| 4 | g.24799863C>T | CA438901977 | SOD3 | c.342C>T (p.His114=) n.532C>T | dbSNP gnomAD v4 |
| 4 | g.24799864G>A | CA356639287 | SOD3 | c.343G>A (p.Val115Met) n.533G>A | gnomAD v4 |
| 4 | g.24799864G>C | CA356639289 | SOD3 | c.343G>C (p.Val115Leu) n.533G>C | |
| 4 | g.24799864G>T | CA356639288 | SOD3 | c.343G>T (p.Val115Leu) n.533G>T | gnomAD v4 |
| 4 | g.24799865T>A | CA356639290 | SOD3 | c.344T>A (p.Val115Glu) n.534T>A | |
| 4 | g.24799865T>C | CA356639292 | SOD3 | c.344T>C (p.Val115Ala) n.534T>C | |
| 4 | g.24799865T>G | CA356639291 | SOD3 | c.344T>G (p.Val115Gly) n.534T>G | |
| 4 | g.24799866G>A | CA2876263 | SOD3 | c.345G>A (p.Val115=) n.535G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799866G>C | CA438901760 | SOD3 | c.345G>C (p.Val115=) n.535G>C | |
| 4 | g.24799866G= | CA1445032752 | SOD3 | c.345G= (p.Val115=) n.535G= | |
| 4 | g.24799866G>T | CA438901759 | SOD3 | c.345G>T (p.Val115=) n.535G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799867C>A | CA356639294 | SOD3 | c.346C>A (p.His116Asn) n.536C>A | gnomAD v4 |
| 4 | g.24799867C>G | CA356639293 | SOD3 | c.346C>G (p.His116Asp) n.536C>G | |
| 4 | g.24799867C>T | CA356639295 | SOD3 | c.346C>T (p.His116Tyr) n.536C>T | |
| 4 | g.24799869_24799871dup | CA2670208894 | SOD3 | c.348_350dup (p.His116_Gln117insHis) n.538_540dup | gnomAD v4 |
| 4 | g.24799868A>C | CA356639296 | SOD3 | c.347A>C (p.His116Pro) n.537A>C | |
| 4 | g.24799868A>G | CA356639298 | SOD3 | c.347A>G (p.His116Arg) n.537A>G | |
| 4 | g.24799868A>T | CA356639297 | SOD3 | c.347A>T (p.His116Leu) n.537A>T | |
| 4 | g.24799869C>A | CA356639299 | SOD3 | c.348C>A (p.His116Gln) n.538C>A | |
| 4 | g.24799869C= | CA1445032755 | SOD3 | c.348C= (p.His116=) n.538C= | |
| 4 | g.24799869C>G | CA356639300 | SOD3 | c.348C>G (p.His116Gln) n.538C>G | |
| 4 | g.24799869C>T | CA2876264 | SOD3 | c.348C>T (p.His116=) n.538C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799870C>A | CA356639301 | SOD3 | c.349C>A (p.Gln117Lys) n.539C>A | gnomAD v4 |
| 4 | g.24799870C>G | CA356639302 | SOD3 | c.349C>G (p.Gln117Glu) n.539C>G | |
| 4 | g.24799870C>T | CA356639303 | SOD3 | c.349C>T (p.Gln117Ter) n.539C>T | gnomAD v4 |
| 4 | g.24799871A>C | CA356639304 | SOD3 | c.350A>C (p.Gln117Pro) n.540A>C | |
| 4 | g.24799871A>G | CA356639305 | SOD3 | c.350A>G (p.Gln117Arg) n.540A>G | |
| 4 | g.24799871A>T | CA356639306 | SOD3 | c.350A>T (p.Gln117Leu) n.540A>T | |
| 4 | g.24799872G>A | CA438901776 | SOD3 | c.351G>A (p.Gln117=) n.541G>A | gnomAD v4 |
| 4 | g.24799872G>C | CA356639307 | SOD3 | c.351G>C (p.Gln117His) n.541G>C | dbSNP |
| 4 | g.24799872G= | CA1445032758 | SOD3 | c.351G= (p.Gln117=) n.541G= | |
| 4 | g.24799872G>T | CA356639308 | SOD3 | c.351G>T (p.Gln117His) n.541G>T | gnomAD v4 COSMIC |
| 4 | g.24799873T>A | CA356639311 | SOD3 | c.352T>A (p.Phe118Ile) n.542T>A | |
| 4 | g.24799873T>C | CA356639310 | SOD3 | c.352T>C (p.Phe118Leu) n.542T>C | gnomAD v4 |
| 4 | g.24799873T>G | CA356639309 | SOD3 | c.352T>G (p.Phe118Val) n.542T>G | |
| 4 | g.24799874T>A | CA356639312 | SOD3 | c.353T>A (p.Phe118Tyr) n.543T>A | |
| 4 | g.24799874T>C | CA356639313 | SOD3 | c.353T>C (p.Phe118Ser) n.543T>C | |
| 4 | g.24799874T>G | CA356639314 | SOD3 | c.353T>G (p.Phe118Cys) n.543T>G | |
| 4 | g.24799875C>A | CA356639315 | SOD3 | c.354C>A (p.Phe118Leu) n.544C>A | gnomAD v4 |
| 4 | g.24799875C>G | CA356639316 | SOD3 | c.354C>G (p.Phe118Leu) n.544C>G | |
| 4 | g.24799875C>T | CA438901783 | SOD3 | c.354C>T (p.Phe118=) n.544C>T | gnomAD v4 COSMIC |
| 4 | g.24799876G>A | CA356639317 | SOD3 | c.355G>A (p.Gly119Arg) n.545G>A | |
| 4 | g.24799876G>C | CA356639318 | SOD3 | c.355G>C (p.Gly119Arg) n.545G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799876G= | CA1445032760 | SOD3 | c.355G= (p.Gly119=) n.545G= | |
| 4 | g.24799876G>T | CA356639319 | SOD3 | c.355G>T (p.Gly119Trp) n.545G>T | gnomAD v4 |
| 4 | g.24799879del | CA2670208895 | SOD3 | c.358del (p.Asp120ThrfsTer2) n.548del | gnomAD v4 |
| 4 | g.24799877G>A | CA356639320 | SOD3 | c.356G>A (p.Gly119Glu) n.546G>A | |
| 4 | g.24799877G>C | CA356639321 | SOD3 | c.356G>C (p.Gly119Ala) n.546G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799877G= | CA1445032762 | SOD3 | c.356G= (p.Gly119=) n.546G= | |
| 4 | g.24799877G>T | CA356639322 | SOD3 | c.356G>T (p.Gly119Val) n.546G>T | gnomAD v4 |
| 4 | g.24799878G>A | CA438901789 | SOD3 | c.357G>A (p.Gly119=) n.547G>A | gnomAD v4 COSMIC |
| 4 | g.24799878G>C | CA438901791 | SOD3 | c.357G>C (p.Gly119=) n.547G>C | dbSNP |
| 4 | g.24799878G= | CA1445032765 | SOD3 | c.357G= (p.Gly119=) n.547G= | |
| 4 | g.24799878G>T | CA94297230 | SOD3 | c.357G>T (p.Gly119=) n.547G>T | dbSNP gnomAD v4 |
| 4 | g.24799879G>A | CA356639325 | SOD3 | c.358G>A (p.Asp120Asn) n.548G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799879G>C | CA356639324 | SOD3 | c.358G>C (p.Asp120His) n.548G>C | |
| 4 | g.24799879G= | CA1445032768 | SOD3 | c.358G= (p.Asp120=) n.548G= | |
| 4 | g.24799879G>T | CA356639323 | SOD3 | c.358G>T (p.Asp120Tyr) n.548G>T | dbSNP gnomAD v4 |
| 4 | g.24799880A>C | CA356639326 | SOD3 | c.359A>C (p.Asp120Ala) n.549A>C | |
| 4 | g.24799880A>G | CA356639327 | SOD3 | c.359A>G (p.Asp120Gly) n.549A>G | |
| 4 | g.24799880A>T | CA356639328 | SOD3 | c.359A>T (p.Asp120Val) n.549A>T | |
| 4 | g.24799881C>A | CA356639329 | SOD3 | c.360C>A (p.Asp120Glu) n.550C>A | |
| 4 | g.24799881C>G | CA356639330 | SOD3 | c.360C>G (p.Asp120Glu) n.550C>G | |
| 4 | g.24799881C>T | CA438901796 | SOD3 | c.360C>T (p.Asp120=) n.550C>T | gnomAD v4 |
| 4 | g.24799882C>A | CA356639331 | SOD3 | c.361C>A (p.Leu121Met) n.551C>A | gnomAD v4 |
| 4 | g.24799882C= | CA1445032771 | SOD3 | c.361C= (p.Leu121=) n.551C= | |
| 4 | g.24799882C>G | CA2876265 | SOD3 | c.361C>G (p.Leu121Val) n.551C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799882C>T | CA438901802 | SOD3 | c.361C>T (p.Leu121=) n.551C>T | |
| 4 | g.24799883T>A | CA356639332 | SOD3 | c.362T>A (p.Leu121Gln) n.552T>A | |
| 4 | g.24799883T>C | CA356639333 | SOD3 | c.362T>C (p.Leu121Pro) n.552T>C | gnomAD v4 |
| 4 | g.24799883T>G | CA356639334 | SOD3 | c.362T>G (p.Leu121Arg) n.552T>G | gnomAD v4 |
| 4 | g.24799884G>A | CA438901808 | SOD3 | c.363G>A (p.Leu121=) n.553G>A | |
| 4 | g.24799884G>C | CA438901810 | SOD3 | c.363G>C (p.Leu121=) n.553G>C | |
| 4 | g.24799884G>T | CA438901812 | SOD3 | c.363G>T (p.Leu121=) n.553G>T | gnomAD v4 |
| 4 | g.24799885A>C | CA356639335 | SOD3 | c.364A>C (p.Ser122Arg) n.554A>C | gnomAD v4 |
| 4 | g.24799885A>G | CA356639336 | SOD3 | c.364A>G (p.Ser122Gly) n.554A>G | |
| 4 | g.24799885A>T | CA356639337 | SOD3 | c.364A>T (p.Ser122Cys) n.554A>T | |
| 4 | g.24799886G>A | CA356639338 | SOD3 | c.365G>A (p.Ser122Asn) n.555G>A | |
| 4 | g.24799886G>C | CA356639340 | SOD3 | c.365G>C (p.Ser122Thr) n.555G>C | |
| 4 | g.24799886G>T | CA356639339 | SOD3 | c.365G>T (p.Ser122Ile) n.555G>T | gnomAD v4 |
| 4 | g.24799887C>A | CA2876266 | SOD3 | c.366C>A (p.Ser122Arg) n.556C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799887C= | CA1445032773 | SOD3 | c.366C= (p.Ser122=) n.556C= | |
| 4 | g.24799887C>G | CA356639341 | SOD3 | c.366C>G (p.Ser122Arg) n.556C>G | |
| 4 | g.24799887C>T | CA438901821 | SOD3 | c.366C>T (p.Ser122=) n.556C>T | gnomAD v4 |
| 4 | g.24799888C>A | CA356639342 | SOD3 | c.367C>A (p.Gln123Lys) n.557C>A | |
| 4 | g.24799888C= | CA1445032775 | SOD3 | c.367C= (p.Gln123=) n.557C= | |
| 4 | g.24799888C>G | CA356639343 | SOD3 | c.367C>G (p.Gln123Glu) n.557C>G | dbSNP gnomAD v4 |
| 4 | g.24799888C>T | CA356639344 | SOD3 | c.367C>T (p.Gln123Ter) n.557C>T | dbSNP |
| 4 | g.24799889A>C | CA356639345 | SOD3 | c.368A>C (p.Gln123Pro) n.558A>C | |
| 4 | g.24799889A>G | CA356639346 | SOD3 | c.368A>G (p.Gln123Arg) n.558A>G | gnomAD v4 |
| 4 | g.24799889A>T | CA356639347 | SOD3 | c.368A>T (p.Gln123Leu) n.558A>T | |
| 4 | g.24799890G>A | CA2876267 | SOD3 | c.369G>A (p.Gln123=) n.559G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799890G>C | CA356639348 | SOD3 | c.369G>C (p.Gln123His) n.559G>C | |
| 4 | g.24799890G= | CA1445032778 | SOD3 | c.369G= (p.Gln123=) n.559G= | |
| 4 | g.24799890G>T | CA356639349 | SOD3 | c.369G>T (p.Gln123His) n.559G>T | gnomAD v4 |
| 4 | g.24799891G>A | CA356639352 | SOD3 | c.370G>A (p.Gly124Ser) n.560G>A | dbSNP gnomAD v4 |
| 4 | g.24799891G>C | CA356639351 | SOD3 | c.370G>C (p.Gly124Arg) n.560G>C | |
| 4 | g.24799891G= | CA1445032781 | SOD3 | c.370G= (p.Gly124=) n.560G= | |
| 4 | g.24799891G>T | CA356639350 | SOD3 | c.370G>T (p.Gly124Cys) n.560G>T | gnomAD v4 |
| 4 | g.24799892G>A | CA356639354 | SOD3 | c.371G>A (p.Gly124Asp) n.561G>A | gnomAD v4 |
| 4 | g.24799892G>C | CA356639353 | SOD3 | c.371G>C (p.Gly124Ala) n.561G>C | |
| 4 | g.24799892G>T | CA356639355 | SOD3 | c.371G>T (p.Gly124Val) n.561G>T | gnomAD v4 |
| 4 | g.24799893C>A | CA438901834 | SOD3 | c.372C>A (p.Gly124=) n.562C>A | gnomAD v4 |
| 4 | g.24799893C= | CA1445032783 | SOD3 | c.372C= (p.Gly124=) n.562C= | |
| 4 | g.24799893C>G | CA438901836 | SOD3 | c.372C>G (p.Gly124=) n.562C>G | dbSNP gnomAD v4 |
| 4 | g.24799893C>T | CA438901838 | SOD3 | c.372C>T (p.Gly124=) n.562C>T | gnomAD v4 |
| 4 | g.24799894T>A | CA356639356 | SOD3 | c.373T>A (p.Cys125Ser) n.563T>A | |
| 4 | g.24799894T>C | CA356639357 | SOD3 | c.373T>C (p.Cys125Arg) n.563T>C | gnomAD v4 |
| 4 | g.24799894T>G | CA356639358 | SOD3 | c.373T>G (p.Cys125Gly) n.563T>G | |
| 4 | g.24799895G>A | CA356639359 | SOD3 | c.374G>A (p.Cys125Tyr) n.564G>A | gnomAD v4 |
| 4 | g.24799895G>C | CA356639360 | SOD3 | c.374G>C (p.Cys125Ser) n.564G>C | |
| 4 | g.24799895G>T | CA356639361 | SOD3 | c.374G>T (p.Cys125Phe) n.564G>T | gnomAD v4 |
| 4 | g.24799896C>A | CA356639362 | SOD3 | c.375C>A (p.Cys125Ter) n.565C>A | gnomAD v4 |
| 4 | g.24799896C= | CA1445032785 | SOD3 | c.375C= (p.Cys125=) n.565C= | |
| 4 | g.24799896C>G | CA356639363 | SOD3 | c.375C>G (p.Cys125Trp) n.565C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799896C>T | CA438901849 | SOD3 | c.375C>T (p.Cys125=) n.565C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799897G>A | CA356639364 | SOD3 | c.376G>A (p.Glu126Lys) n.566G>A | gnomAD v4 |
| 4 | g.24799897G>C | CA356639365 | SOD3 | c.376G>C (p.Glu126Gln) n.566G>C | |
| 4 | g.24799897G>T | CA356639366 | SOD3 | c.376G>T (p.Glu126Ter) n.566G>T | gnomAD v4 |
| 4 | g.24799898A= | CA1445032789 | SOD3 | c.377A= (p.Glu126=) n.567A= | |
| 4 | g.24799898A>C | CA356639367 | SOD3 | c.377A>C (p.Glu126Ala) n.567A>C | dbSNP |
| 4 | g.24799898A>G | CA356639368 | SOD3 | c.377A>G (p.Glu126Gly) n.567A>G | gnomAD v4 |
| 4 | g.24799898A>T | CA356639369 | SOD3 | c.377A>T (p.Glu126Val) n.567A>T | |
| 4 | g.24799899G>A | CA438901855 | SOD3 | c.378G>A (p.Glu126=) n.568G>A | |
| 4 | g.24799899G>C | CA356639370 | SOD3 | c.378G>C (p.Glu126Asp) n.568G>C | |
| 4 | g.24799899G>T | CA356639371 | SOD3 | c.378G>T (p.Glu126Asp) n.568G>T | gnomAD v4 |
| 4 | g.24799900T>A | CA356639372 | SOD3 | c.379T>A (p.Ser127Thr) n.569T>A | |
| 4 | g.24799900T>C | CA356639373 | SOD3 | c.379T>C (p.Ser127Pro) n.569T>C | |
| 4 | g.24799900T>G | CA356639374 | SOD3 | c.379T>G (p.Ser127Ala) n.569T>G | |
| 4 | g.24799901C>A | CA356639375 | SOD3 | c.380C>A (p.Ser127Tyr) n.570C>A | gnomAD v4 |
| 4 | g.24799901C>G | CA356639376 | SOD3 | c.380C>G (p.Ser127Cys) n.570C>G | |
| 4 | g.24799901C>T | CA356639377 | SOD3 | c.380C>T (p.Ser127Phe) n.570C>T | |
| 4 | g.24799902C>A | CA438901868 | SOD3 | c.381C>A (p.Ser127=) n.571C>A | gnomAD v4 |
| 4 | g.24799902C>G | CA438901867 | SOD3 | c.381C>G (p.Ser127=) n.571C>G | |
| 4 | g.24799902C>T | CA438901861 | SOD3 | c.381C>T (p.Ser127=) n.571C>T | gnomAD v4 |
| 4 | g.24799903A= | CA1445032792 | SOD3 | c.382A= (p.Thr128=) n.572A= | |
| 4 | g.24799903A>C | CA356639378 | SOD3 | c.382A>C (p.Thr128Pro) n.572A>C | |
| 4 | g.24799903A>G | CA356639379 | SOD3 | c.382A>G (p.Thr128Ala) n.572A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799903A>T | CA356639380 | SOD3 | c.382A>T (p.Thr128Ser) n.572A>T | |
| 4 | g.24799904C>A | CA356639381 | SOD3 | c.383C>A (p.Thr128Asn) n.573C>A | |
| 4 | g.24799904C= | CA1445032794 | SOD3 | c.383C= (p.Thr128=) n.573C= | |
| 4 | g.24799904C>G | CA356639382 | SOD3 | c.383C>G (p.Thr128Ser) n.573C>G | |
| 4 | g.24799904C>T | CA2876268 | SOD3 | c.383C>T (p.Thr128Ile) n.573C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799905del | CA2670208896 | SOD3 | c.384del (p.His131ThrfsTer?) n.574del | gnomAD v4 |
| 4 | g.24799905C>A | CA438901874 | SOD3 | c.384C>A (p.Thr128=) n.574C>A | |
| 4 | g.24799905C= | CA1445032798 | SOD3 | c.384C= (p.Thr128=) n.574C= | |
| 4 | g.24799905C>G | CA438901873 | SOD3 | c.384C>G (p.Thr128=) n.574C>G | gnomAD v4 |
| 4 | g.24799905C>T | CA94297231 | SOD3 | c.384C>T (p.Thr128=) n.574C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799906G>A | CA356639384 | SOD3 | c.385G>A (p.Gly129Arg) n.575G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799906G>C | CA2876269 | SOD3 | c.385G>C (p.Gly129Arg) n.575G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799906G= | CA1445032803 | SOD3 | c.385G= (p.Gly129=) n.575G= | |
| 4 | g.24799906G>T | CA356639383 | SOD3 | c.385G>T (p.Gly129Trp) n.575G>T | dbSNP gnomAD v4 |
| 4 | g.24799908del | CA2670208897 | SOD3 | c.387del (p.His131ThrfsTer?) n.577del | gnomAD v4 |
| 4 | g.24799907G>A | CA356639385 | SOD3 | c.386G>A (p.Gly129Glu) n.576G>A | |
| 4 | g.24799907G>C | CA356639386 | SOD3 | c.386G>C (p.Gly129Ala) n.576G>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799907G= | CA1445032808 | SOD3 | c.386G= (p.Gly129=) n.576G= | |
| 4 | g.24799907G>T | CA356639387 | SOD3 | c.386G>T (p.Gly129Val) n.576G>T | gnomAD v4 |
| 4 | g.24799908G>A | CA438901883 | SOD3 | c.387G>A (p.Gly129=) n.577G>A | gnomAD v4 |
| 4 | g.24799908G>C | CA438901880 | SOD3 | c.387G>C (p.Gly129=) n.577G>C | |
| 4 | g.24799908G>T | CA438901882 | SOD3 | c.387G>T (p.Gly129=) n.577G>T | gnomAD v4 |
| 4 | g.24799909C>A | CA356639388 | SOD3 | c.388C>A (p.Pro130Thr) n.578C>A | gnomAD v4 |
| 4 | g.24799909C>G | CA356639389 | SOD3 | c.388C>G (p.Pro130Ala) n.578C>G | |
| 4 | g.24799909C>T | CA356639390 | SOD3 | c.388C>T (p.Pro130Ser) n.578C>T | gnomAD v4 |
| 4 | g.24799912del | CA2670208898 | SOD3 | c.391del (p.His131ThrfsTer?) n.581del | gnomAD v4 |
| 4 | g.24799910C>A | CA356639391 | SOD3 | c.389C>A (p.Pro130His) n.579C>A | dbSNP gnomAD v2 |
| 4 | g.24799910C= | CA1445032810 | SOD3 | c.389C= (p.Pro130=) n.579C= | |
| 4 | g.24799910C>G | CA356639392 | SOD3 | c.389C>G (p.Pro130Arg) n.579C>G | |
| 4 | g.24799910C>T | CA356639393 | SOD3 | c.389C>T (p.Pro130Leu) n.579C>T | gnomAD v4 |
| 4 | g.24799911C>A | CA438901886 | SOD3 | c.390C>A (p.Pro130=) n.580C>A | dbSNP gnomAD v4 |
| 4 | g.24799911C= | CA1445032814 | SOD3 | c.390C= (p.Pro130=) n.580C= | |
| 4 | g.24799911C>G | CA438901888 | SOD3 | c.390C>G (p.Pro130=) n.580C>G | gnomAD v4 |
| 4 | g.24799911C>T | CA438901889 | SOD3 | c.390C>T (p.Pro130=) n.580C>T | gnomAD v4 |
| 4 | g.24799911_24799935delinsCCACTACAACCCGCTGGCCGTGCCG | CA1445032812 | SOD3 | c.390_414delinsCCACTACAACCCGCTGGCCGTGCCG (p.Pro130=) n.580_604delinsCCACTACAACCCGCTGGCCGTGCCG | |
| 4 | g.24799912C>A | CA356639396 | SOD3 | c.391C>A (p.His131Asn) n.581C>A | gnomAD v4 |
| 4 | g.24799912C= | CA1445032817 | SOD3 | c.391C= (p.His131=) n.581C= | |
| 4 | g.24799912C>G | CA356639395 | SOD3 | c.391C>G (p.His131Asp) n.581C>G | |
| 4 | g.24799912C>T | CA356639394 | SOD3 | c.391C>T (p.His131Tyr) n.581C>T | |
| 4 | g.24799915_24799938del | CA2876270 | SOD3 | c.394_417del (p.Tyr132_His139del) n.584_607del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799913A>C | CA356639397 | SOD3 | c.392A>C (p.His131Pro) n.582A>C | |
| 4 | g.24799913A>G | CA356639398 | SOD3 | c.392A>G (p.His131Arg) n.582A>G | gnomAD v4 |
| 4 | g.24799913A>T | CA356639399 | SOD3 | c.392A>T (p.His131Leu) n.582A>T | gnomAD v4 |
| 4 | g.24799913dup | CA1445032822 | SOD3 | c.392dup (p.His131GlnfsTer?) n.582dup | dbSNP |
| 4 | g.24799914C>A | CA356639400 | SOD3 | c.393C>A (p.His131Gln) n.583C>A | |
| 4 | g.24799914C= | CA1445032824 | SOD3 | c.393C= (p.His131=) n.583C= | |
| 4 | g.24799914C>G | CA2876271 | SOD3 | c.393C>G (p.His131Gln) n.583C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799914C>T | CA438901897 | SOD3 | c.393C>T (p.His131=) n.583C>T | gnomAD v4 |
| 4 | g.24799915T>A | CA356639401 | SOD3 | c.394T>A (p.Tyr132Asn) n.584T>A | |
| 4 | g.24799915T>C | CA2876272 | SOD3 | c.394T>C (p.Tyr132His) n.584T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799915T>G | CA356639402 | SOD3 | c.394T>G (p.Tyr132Asp) n.584T>G | |
| 4 | g.24799915T= | CA1445032828 | SOD3 | c.394T= (p.Tyr132=) n.584T= | |
| 4 | g.24799916A>C | CA356639403 | SOD3 | c.395A>C (p.Tyr132Ser) n.585A>C | |
| 4 | g.24799916A>G | CA356639404 | SOD3 | c.395A>G (p.Tyr132Cys) n.585A>G | |
| 4 | g.24799916A>T | CA356639405 | SOD3 | c.395A>T (p.Tyr132Phe) n.585A>T | |
| 4 | g.24799917C>A | CA356639406 | SOD3 | c.396C>A (p.Tyr132Ter) n.586C>A | gnomAD v4 |
| 4 | g.24799917C= | CA1445032830 | SOD3 | c.396C= (p.Tyr132=) n.586C= | |
| 4 | g.24799917C>G | CA356639407 | SOD3 | c.396C>G (p.Tyr132Ter) n.586C>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799917C>T | CA438901904 | SOD3 | c.396C>T (p.Tyr132=) n.586C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799918A>C | CA356639409 | SOD3 | c.397A>C (p.Asn133His) n.587A>C | |
| 4 | g.24799918A>G | CA356639410 | SOD3 | c.397A>G (p.Asn133Asp) n.587A>G | |
| 4 | g.24799918A>T | CA356639408 | SOD3 | c.397A>T (p.Asn133Tyr) n.587A>T | |
| 4 | g.24799919A>C | CA356639411 | SOD3 | c.398A>C (p.Asn133Thr) n.588A>C | gnomAD v4 |
| 4 | g.24799919A>G | CA356639413 | SOD3 | c.398A>G (p.Asn133Ser) n.588A>G | gnomAD v4 |
| 4 | g.24799919A>T | CA356639412 | SOD3 | c.398A>T (p.Asn133Ile) n.588A>T | |
| 4 | g.24799920C>A | CA356639414 | SOD3 | c.399C>A (p.Asn133Lys) n.589C>A | gnomAD v4 |
| 4 | g.24799920C= | CA1445032832 | SOD3 | c.399C= (p.Asn133=) n.589C= | |
| 4 | g.24799920C>G | CA356639415 | SOD3 | c.399C>G (p.Asn133Lys) n.589C>G | |
| 4 | g.24799920C>T | CA2876273 | SOD3 | c.399C>T (p.Asn133=) n.589C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799921C>A | CA356639416 | SOD3 | c.400C>A (p.Pro134Thr) n.590C>A | |
| 4 | g.24799921C>G | CA356639417 | SOD3 | c.400C>G (p.Pro134Ala) n.590C>G | |
| 4 | g.24799921C>T | CA356639418 | SOD3 | c.400C>T (p.Pro134Ser) n.590C>T | |
| 4 | g.24799922C>A | CA356639421 | SOD3 | c.401C>A (p.Pro134Gln) n.591C>A | gnomAD v4 |
| 4 | g.24799922C= | CA1445032836 | SOD3 | c.401C= (p.Pro134=) n.591C= | |
| 4 | g.24799922C>G | CA356639419 | SOD3 | c.401C>G (p.Pro134Arg) n.591C>G | |
| 4 | g.24799922C>T | CA356639420 | SOD3 | c.401C>T (p.Pro134Leu) n.591C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799923G>A | CA438901914 | SOD3 | c.402G>A (p.Pro134=) n.592G>A | gnomAD v4 |
| 4 | g.24799923G>C | CA438901915 | SOD3 | c.402G>C (p.Pro134=) n.592G>C | gnomAD v4 |
| 4 | g.24799923G>T | CA438901912 | SOD3 | c.402G>T (p.Pro134=) n.592G>T | gnomAD v4 |
| 4 | g.24799924C>A | CA356639422 | SOD3 | c.403C>A (p.Leu135Met) n.593C>A | gnomAD v4 |
| 4 | g.24799924C= | CA1445032839 | SOD3 | c.403C= (p.Leu135=) n.593C= | |
| 4 | g.24799924C>G | CA356639423 | SOD3 | c.403C>G (p.Leu135Val) n.593C>G | |
| 4 | g.24799924C>T | CA438901916 | SOD3 | c.403C>T (p.Leu135=) n.593C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799925T>A | CA356639424 | SOD3 | c.404T>A (p.Leu135Gln) n.594T>A | |
| 4 | g.24799925T>C | CA356639425 | SOD3 | c.404T>C (p.Leu135Pro) n.594T>C | |
| 4 | g.24799925T>G | CA356639426 | SOD3 | c.404T>G (p.Leu135Arg) n.594T>G | |
| 4 | g.24799926G>A | CA94297232 | SOD3 | c.405G>A (p.Leu135=) n.595G>A | dbSNP gnomAD v4 |
| 4 | g.24799926G>C | CA438901919 | SOD3 | c.405G>C (p.Leu135=) n.595G>C | |
| 4 | g.24799926G= | CA1445032843 | SOD3 | c.405G= (p.Leu135=) n.595G= | |
| 4 | g.24799926G>T | CA438901920 | SOD3 | c.405G>T (p.Leu135=) n.595G>T | gnomAD v4 |
| 4 | g.24799927G>A | CA356639429 | SOD3 | c.406G>A (p.Ala136Thr) n.596G>A | |
| 4 | g.24799927G>C | CA356639427 | SOD3 | c.406G>C (p.Ala136Pro) n.596G>C | |
| 4 | g.24799927G>T | CA356639428 | SOD3 | c.406G>T (p.Ala136Ser) n.596G>T | gnomAD v4 |
| 4 | g.24799928C>A | CA356639430 | SOD3 | c.407C>A (p.Ala136Asp) n.597C>A | gnomAD v4 |
| 4 | g.24799928C>G | CA356639431 | SOD3 | c.407C>G (p.Ala136Gly) n.597C>G | |
| 4 | g.24799928C>T | CA356639432 | SOD3 | c.407C>T (p.Ala136Val) n.597C>T | gnomAD v4 |
| 4 | g.24799929C>A | CA438901922 | SOD3 | c.408C>A (p.Ala136=) n.598C>A | gnomAD v4 |
| 4 | g.24799929C>G | CA438901923 | SOD3 | c.408C>G (p.Ala136=) n.598C>G | |
| 4 | g.24799929C>T | CA438901924 | SOD3 | c.408C>T (p.Ala136=) n.598C>T | gnomAD v4 |
| 4 | g.24799930G>A | CA356639433 | SOD3 | c.409G>A (p.Val137Met) n.599G>A | gnomAD v4 |
| 4 | g.24799930G>C | CA356639434 | SOD3 | c.409G>C (p.Val137Leu) n.599G>C | |
| 4 | g.24799930G>T | CA356639435 | SOD3 | c.409G>T (p.Val137Leu) n.599G>T | gnomAD v4 |
| 4 | g.24799931T>A | CA356639436 | SOD3 | c.410T>A (p.Val137Glu) n.600T>A | |
| 4 | g.24799931T>C | CA356639437 | SOD3 | c.410T>C (p.Val137Ala) n.600T>C | gnomAD v4 |
| 4 | g.24799931T>G | CA356639438 | SOD3 | c.410T>G (p.Val137Gly) n.600T>G | |
| 4 | g.24799932G>A | CA438901928 | SOD3 | c.411G>A (p.Val137=) n.601G>A | gnomAD v4 |
| 4 | g.24799932G>C | CA438901929 | SOD3 | c.411G>C (p.Val137=) n.601G>C | gnomAD v4 |
| 4 | g.24799932G>T | CA438901930 | SOD3 | c.411G>T (p.Val137=) n.601G>T | gnomAD v4 |
| 4 | g.24799934_24799942dup | CA2670208899 | SOD3 | c.413_421dup (p.Pro140_Gln141insProHisPro) n.603_611dup | gnomAD v4 |
| 4 | g.24799933C>A | CA356639439 | SOD3 | c.412C>A (p.Pro138Thr) n.602C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799933C= | CA1445032846 | SOD3 | c.412C= (p.Pro138=) n.602C= | |
| 4 | g.24799933C>G | CA356639440 | SOD3 | c.412C>G (p.Pro138Ala) n.602C>G | |
| 4 | g.24799933C>T | CA356639441 | SOD3 | c.412C>T (p.Pro138Ser) n.602C>T | gnomAD v4 |
| 4 | g.24799934C>A | CA356639442 | SOD3 | c.413C>A (p.Pro138Gln) n.603C>A | gnomAD v4 |
| 4 | g.24799934C= | CA1445032853 | SOD3 | c.413C= (p.Pro138=) n.603C= | |
| 4 | g.24799934C>G | CA356639443 | SOD3 | c.413C>G (p.Pro138Arg) n.603C>G | |
| 4 | g.24799934C>T | CA2876274 | SOD3 | c.413C>T (p.Pro138Leu) n.603C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799935G>A | CA438901935 | SOD3 | c.414G>A (p.Pro138=) n.604G>A | gnomAD v4 |
| 4 | g.24799935G>C | CA438901937 | SOD3 | c.414G>C (p.Pro138=) n.604G>C | |
| 4 | g.24799935G>T | CA438901936 | SOD3 | c.414G>T (p.Pro138=) n.604G>T | gnomAD v4 |
| 4 | g.24799936C>A | CA356639444 | SOD3 | c.415C>A (p.His139Asn) n.605C>A | gnomAD v4 |
| 4 | g.24799936C>G | CA356639445 | SOD3 | c.415C>G (p.His139Asp) n.605C>G | |
| 4 | g.24799936C>T | CA356639446 | SOD3 | c.415C>T (p.His139Tyr) n.605C>T | |
| 4 | g.24799937A>C | CA356639447 | SOD3 | c.416A>C (p.His139Pro) n.606A>C | |
| 4 | g.24799937A>G | CA356639448 | SOD3 | c.416A>G (p.His139Arg) n.606A>G | |
| 4 | g.24799937A>T | CA356639449 | SOD3 | c.416A>T (p.His139Leu) n.606A>T | |
| 4 | g.24799938C>A | CA356639450 | SOD3 | c.417C>A (p.His139Gln) n.607C>A | gnomAD v4 |
| 4 | g.24799938C= | CA1445032857 | SOD3 | c.417C= (p.His139=) n.607C= | |
| 4 | g.24799938C>G | CA356639451 | SOD3 | c.417C>G (p.His139Gln) n.607C>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799938C>T | CA2876275 | SOD3 | c.417C>T (p.His139=) n.607C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |