Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.24799766T>A | CA356638877 | SOD3 | c.245T>A (p.Val82Asp) n.435T>A | |
4 | g.24799766T>C | CA356638879 | SOD3 | c.245T>C (p.Val82Ala) n.435T>C | |
4 | g.24799766T>G | CA356638881 | SOD3 | c.245T>G (p.Val82Gly) n.435T>G | |
4 | g.24799767C>A | CA438901850 | SOD3 | c.246C>A (p.Val82=) n.436C>A | gnomAD v4 |
4 | g.24799767C= | CA1445032590 | SOD3 | c.246C= (p.Val82=) n.436C= | |
4 | g.24799767C>G | CA438901852 | SOD3 | c.246C>G (p.Val82=) n.436C>G | |
4 | g.24799767C>T | CA438901853 | SOD3 | c.246C>T (p.Val82=) n.436C>T | dbSNP gnomAD v2 |
4 | g.24799768C>A | CA356638883 | SOD3 | c.247C>A (p.Leu83Ile) n.437C>A | gnomAD v4 |
4 | g.24799768C>G | CA356638885 | SOD3 | c.247C>G (p.Leu83Val) n.437C>G | |
4 | g.24799768C>T | CA356638887 | SOD3 | c.247C>T (p.Leu83Phe) n.437C>T | |
4 | g.24799769T>A | CA356638888 | SOD3 | c.248T>A (p.Leu83His) n.438T>A | |
4 | g.24799769T>C | CA94297225 | SOD3 | c.248T>C (p.Leu83Pro) n.438T>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799769T>G | CA356638891 | SOD3 | c.248T>G (p.Leu83Arg) n.438T>G | |
4 | g.24799769T= | CA1445032593 | SOD3 | c.248T= (p.Leu83=) n.438T= | |
4 | g.24799770C>A | CA438901857 | SOD3 | c.249C>A (p.Leu83=) n.439C>A | gnomAD v4 |
4 | g.24799770C= | CA1445032597 | SOD3 | c.249C= (p.Leu83=) n.439C= | |
4 | g.24799770C>G | CA438901858 | SOD3 | c.249C>G (p.Leu83=) n.439C>G | gnomAD v4 |
4 | g.24799770C>T | CA438901860 | SOD3 | c.249C>T (p.Leu83=) n.439C>T | dbSNP |
4 | g.24799773_24799782del | CA2670208890 | SOD3 | c.252_261del (p.Phe84LeufsTer?) n.442_451del | gnomAD v4 |
4 | g.24799771T>A | CA356638894 | SOD3 | c.250T>A (p.Phe84Ile) n.440T>A | |
4 | g.24799771T>C | CA356638896 | SOD3 | c.250T>C (p.Phe84Leu) n.440T>C | gnomAD v4 |
4 | g.24799771T>G | CA356638903 | SOD3 | c.250T>G (p.Phe84Val) n.440T>G | |
4 | g.24799771_24799772del | CA2670208891 | SOD3 | c.250_251del (p.Phe84ProfsTer?) n.440_441del | gnomAD v4 |
4 | g.24799772T>A | CA356638904 | SOD3 | c.251T>A (p.Phe84Tyr) n.441T>A | |
4 | g.24799772T>C | CA356638905 | SOD3 | c.251T>C (p.Phe84Ser) n.441T>C | |
4 | g.24799772T>G | CA356638906 | SOD3 | c.251T>G (p.Phe84Cys) n.441T>G | |
4 | g.24799773C>A | CA356638907 | SOD3 | c.252C>A (p.Phe84Leu) n.442C>A | gnomAD v4 |
4 | g.24799773C= | CA1445032599 | SOD3 | c.252C= (p.Phe84=) n.442C= | |
4 | g.24799773C>G | CA356638908 | SOD3 | c.252C>G (p.Phe84Leu) n.442C>G | |
4 | g.24799773C>T | CA438901863 | SOD3 | c.252C>T (p.Phe84=) n.442C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799774C>A | CA438901866 | SOD3 | c.253C>A (p.Arg85=) n.443C>A | gnomAD v4 |
4 | g.24799774C= | CA1445032601 | SOD3 | c.253C= (p.Arg85=) n.443C= | |
4 | g.24799774C>G | CA356638909 | SOD3 | c.253C>G (p.Arg85Gly) n.443C>G | dbSNP |
4 | g.24799774C>T | CA356638910 | SOD3 | c.253C>T (p.Arg85Trp) n.443C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799775G>A | CA356638911 | SOD3 | c.254G>A (p.Arg85Gln) n.444G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799775G>C | CA356638912 | SOD3 | c.254G>C (p.Arg85Pro) n.444G>C | gnomAD v4 |
4 | g.24799775G= | CA1445032604 | SOD3 | c.254G= (p.Arg85=) n.444G= | |
4 | g.24799775G>T | CA356638913 | SOD3 | c.254G>T (p.Arg85Leu) n.444G>T | |
4 | g.24799776G>A | CA438901869 | SOD3 | c.255G>A (p.Arg85=) n.445G>A | gnomAD v4 |
4 | g.24799776G>C | CA438901871 | SOD3 | c.255G>C (p.Arg85=) n.445G>C | |
4 | g.24799776G>T | CA438901870 | SOD3 | c.255G>T (p.Arg85=) n.445G>T | |
4 | g.24799777C>A | CA356638916 | SOD3 | c.256C>A (p.Gln86Lys) n.446C>A | |
4 | g.24799777C= | CA1445032606 | SOD3 | c.256C= (p.Gln86=) n.446C= | |
4 | g.24799777C>G | CA356638914 | SOD3 | c.256C>G (p.Gln86Glu) n.446C>G | |
4 | g.24799777C>T | CA356638915 | SOD3 | c.256C>T (p.Gln86Ter) n.446C>T | dbSNP |
4 | g.24799778A>C | CA356638917 | SOD3 | c.257A>C (p.Gln86Pro) n.447A>C | |
4 | g.24799778A>G | CA356638918 | SOD3 | c.257A>G (p.Gln86Arg) n.447A>G | |
4 | g.24799778A>T | CA356638919 | SOD3 | c.257A>T (p.Gln86Leu) n.447A>T | |
4 | g.24799779G>A | CA438901875 | SOD3 | c.258G>A (p.Gln86=) n.448G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799779G>C | CA356638920 | SOD3 | c.258G>C (p.Gln86His) n.448G>C | |
4 | g.24799779G= | CA1445032611 | SOD3 | c.258G= (p.Gln86=) n.448G= | |
4 | g.24799779G>T | CA356638921 | SOD3 | c.258G>T (p.Gln86His) n.448G>T | gnomAD v4 |
4 | g.24799780C>A | CA356638922 | SOD3 | c.259C>A (p.Leu87Ile) n.449C>A | gnomAD v4 |
4 | g.24799780C>G | CA356638923 | SOD3 | c.259C>G (p.Leu87Val) n.449C>G | |
4 | g.24799780C>T | CA356638924 | SOD3 | c.259C>T (p.Leu87Phe) n.449C>T | |
4 | g.24799781T>A | CA356638925 | SOD3 | c.260T>A (p.Leu87His) n.450T>A | |
4 | g.24799781T>C | CA356638926 | SOD3 | c.260T>C (p.Leu87Pro) n.450T>C | dbSNP |
4 | g.24799781T>G | CA356638927 | SOD3 | c.260T>G (p.Leu87Arg) n.450T>G | |
4 | g.24799781T= | CA1445032613 | SOD3 | c.260T= (p.Leu87=) n.450T= | |
4 | g.24799782T>A | CA438901877 | SOD3 | c.261T>A (p.Leu87=) n.451T>A | |
4 | g.24799782T>C | CA438901881 | SOD3 | c.261T>C (p.Leu87=) n.451T>C | |
4 | g.24799782T>G | CA438901879 | SOD3 | c.261T>G (p.Leu87=) n.451T>G | |
4 | g.24799783G>A | CA2876243 | SOD3 | c.262G>A (p.Ala88Thr) n.452G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799783G>C | CA356638929 | SOD3 | c.262G>C (p.Ala88Pro) n.452G>C | |
4 | g.24799783G= | CA1445032615 | SOD3 | c.262G= (p.Ala88=) n.452G= | |
4 | g.24799783G>T | CA356638928 | SOD3 | c.262G>T (p.Ala88Ser) n.452G>T | gnomAD v4 |
4 | g.24799784C>A | CA356638930 | SOD3 | c.263C>A (p.Ala88Glu) n.453C>A | gnomAD v4 |
4 | g.24799784C= | CA1445032617 | SOD3 | c.263C= (p.Ala88=) n.453C= | |
4 | g.24799784C>G | CA2876244 | SOD3 | c.263C>G (p.Ala88Gly) n.453C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799784C>T | CA356638931 | SOD3 | c.263C>T (p.Ala88Val) n.453C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799785G>A | CA2876245 | SOD3 | c.264G>A (p.Ala88=) n.454G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799785G>C | CA438901884 | SOD3 | c.264G>C (p.Ala88=) n.454G>C | |
4 | g.24799785G= | CA1445032619 | SOD3 | c.264G= (p.Ala88=) n.454G= | |
4 | g.24799785G>T | CA438901885 | SOD3 | c.264G>T (p.Ala88=) n.454G>T | |
4 | g.24799786C>A | CA356638932 | SOD3 | c.265C>A (p.Pro89Thr) n.455C>A | ClinVar gnomAD v4 |
4 | g.24799786C= | CA1445032621 | SOD3 | c.265C= (p.Pro89=) n.455C= | |
4 | g.24799786C>G | CA356638933 | SOD3 | c.265C>G (p.Pro89Ala) n.455C>G | |
4 | g.24799786C>T | CA2876246 | SOD3 | c.265C>T (p.Pro89Ser) n.455C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.24799787C>A | CA356638934 | SOD3 | c.266C>A (p.Pro89His) n.456C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799787C= | CA1445032623 | SOD3 | c.266C= (p.Pro89=) n.456C= | |
4 | g.24799787C>G | CA356638935 | SOD3 | c.266C>G (p.Pro89Arg) n.456C>G | |
4 | g.24799787C>T | CA356638936 | SOD3 | c.266C>T (p.Pro89Leu) n.456C>T | gnomAD v4 |
4 | g.24799788C>A | CA438901890 | SOD3 | c.267C>A (p.Pro89=) n.457C>A | |
4 | g.24799788C>G | CA438901891 | SOD3 | c.267C>G (p.Pro89=) n.457C>G | |
4 | g.24799788C>T | CA438901892 | SOD3 | c.267C>T (p.Pro89=) n.457C>T | gnomAD v4 |
4 | g.24799789C>A | CA356638937 | SOD3 | c.268C>A (p.Arg90Ser) n.458C>A | gnomAD v4 |
4 | g.24799789C= | CA1445032626 | SOD3 | c.268C= (p.Arg90=) n.458C= | |
4 | g.24799789C>G | CA356638938 | SOD3 | c.268C>G (p.Arg90Gly) n.458C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799789C>T | CA2876247 | SOD3 | c.268C>T (p.Arg90Cys) n.458C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799790G>A | CA356638941 | SOD3 | c.269G>A (p.Arg90His) n.459G>A | gnomAD v4 |
4 | g.24799790G>C | CA356638940 | SOD3 | c.269G>C (p.Arg90Pro) n.459G>C | |
4 | g.24799790G>T | CA356638939 | SOD3 | c.269G>T (p.Arg90Leu) n.459G>T | |
4 | g.24799791C>A | CA438901896 | SOD3 | c.270C>A (p.Arg90=) n.460C>A | gnomAD v4 |
4 | g.24799791C= | CA1445032629 | SOD3 | c.270C= (p.Arg90=) n.460C= | |
4 | g.24799791C>G | CA438901894 | SOD3 | c.270C>G (p.Arg90=) n.460C>G | |
4 | g.24799791C>T | CA438901895 | SOD3 | c.270C>T (p.Arg90=) n.460C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799792G>A | CA2876248 | SOD3 | c.271G>A (p.Ala91Thr) n.461G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799792G>C | CA356638942 | SOD3 | c.271G>C (p.Ala91Pro) n.461G>C | |
4 | g.24799792G= | CA1445032632 | SOD3 | c.271G= (p.Ala91=) n.461G= | |
4 | g.24799792G>T | CA356638943 | SOD3 | c.271G>T (p.Ala91Ser) n.461G>T | dbSNP gnomAD v4 |
4 | g.24799793C>A | CA356638944 | SOD3 | c.272C>A (p.Ala91Asp) n.462C>A | |
4 | g.24799793C>G | CA356638945 | SOD3 | c.272C>G (p.Ala91Gly) n.462C>G | |
4 | g.24799793C>T | CA356638946 | SOD3 | c.272C>T (p.Ala91Val) n.462C>T | |
4 | g.24799794C>A | CA438901898 | SOD3 | c.273C>A (p.Ala91=) n.463C>A | |
4 | g.24799794C>G | CA438901899 | SOD3 | c.273C>G (p.Ala91=) n.463C>G | |
4 | g.24799794C>T | CA438901900 | SOD3 | c.273C>T (p.Ala91=) n.463C>T | |
4 | g.24799795A= | CA1445032638 | SOD3 | c.274A= (p.Lys92=) n.464A= | |
4 | g.24799795A>C | CA356638947 | SOD3 | c.274A>C (p.Lys92Gln) n.464A>C | |
4 | g.24799795A>G | CA356638948 | SOD3 | c.274A>G (p.Lys92Glu) n.464A>G | dbSNP |
4 | g.24799795A>T | CA356638949 | SOD3 | c.274A>T (p.Lys92Ter) n.464A>T | |
4 | g.24799796A>C | CA356638950 | SOD3 | c.275A>C (p.Lys92Thr) n.465A>C | gnomAD v4 |
4 | g.24799796A>G | CA356638952 | SOD3 | c.275A>G (p.Lys92Arg) n.465A>G | gnomAD v4 |
4 | g.24799796A>T | CA356638953 | SOD3 | c.275A>T (p.Lys92Met) n.465A>T | |
4 | g.24799797G>A | CA438901905 | SOD3 | c.276G>A (p.Lys92=) n.466G>A | gnomAD v4 |
4 | g.24799797G>C | CA356638955 | SOD3 | c.276G>C (p.Lys92Asn) n.466G>C | |
4 | g.24799797G= | CA1445032639 | SOD3 | c.276G= (p.Lys92=) n.466G= | |
4 | g.24799797G>T | CA2876249 | SOD3 | c.276G>T (p.Lys92Asn) n.466G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799798del | CA2760767560 | SOD3 | c.277del (p.Leu93SerfsTer29) n.467del | |
4 | g.24799798C>A | CA356638957 | SOD3 | c.277C>A (p.Leu93Ile) n.467C>A | gnomAD v4 |
4 | g.24799798C= | CA1445032643 | SOD3 | c.277C= (p.Leu93=) n.467C= | |
4 | g.24799798C>G | CA356638959 | SOD3 | c.277C>G (p.Leu93Val) n.467C>G | |
4 | g.24799798C>T | CA356638960 | SOD3 | c.277C>T (p.Leu93Phe) n.467C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799799T>A | CA356638961 | SOD3 | c.278T>A (p.Leu93His) n.468T>A | |
4 | g.24799799T>C | CA356638962 | SOD3 | c.278T>C (p.Leu93Pro) n.468T>C | |
4 | g.24799799T>G | CA356638963 | SOD3 | c.278T>G (p.Leu93Arg) n.468T>G | |
4 | g.24799800C>A | CA438901909 | SOD3 | c.279C>A (p.Leu93=) n.469C>A | gnomAD v4 |
4 | g.24799800C= | CA1445032645 | SOD3 | c.279C= (p.Leu93=) n.469C= | |
4 | g.24799800C>G | CA2876250 | SOD3 | c.279C>G (p.Leu93=) n.469C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799800C>T | CA438901910 | SOD3 | c.279C>T (p.Leu93=) n.469C>T | gnomAD v4 |
4 | g.24799801G>A | CA356638964 | SOD3 | c.280G>A (p.Asp94Asn) n.470G>A | gnomAD v4 |
4 | g.24799801G>C | CA356638965 | SOD3 | c.280G>C (p.Asp94His) n.470G>C | gnomAD v4 |
4 | g.24799801G>T | CA356638966 | SOD3 | c.280G>T (p.Asp94Tyr) n.470G>T | gnomAD v4 |
4 | g.24799802A>C | CA356638967 | SOD3 | c.281A>C (p.Asp94Ala) n.471A>C | |
4 | g.24799802A>G | CA356638968 | SOD3 | c.281A>G (p.Asp94Gly) n.471A>G | |
4 | g.24799802A>T | CA356638970 | SOD3 | c.281A>T (p.Asp94Val) n.471A>T | |
4 | g.24799803C>A | CA356638974 | SOD3 | c.282C>A (p.Asp94Glu) n.472C>A | |
4 | g.24799803C>G | CA356638973 | SOD3 | c.282C>G (p.Asp94Glu) n.472C>G | |
4 | g.24799803C>T | CA438901913 | SOD3 | c.282C>T (p.Asp94=) n.472C>T | gnomAD v4 COSMIC |
4 | g.24799807_24799815dup | CA2670208892 | SOD3 | c.286_294dup (p.Ala98_Leu99insPhePheAla) n.476_484dup | gnomAD v4 |
4 | g.24799804G>A | CA356638975 | SOD3 | c.283G>A (p.Ala95Thr) n.473G>A | gnomAD v4 COSMIC |
4 | g.24799804G>C | CA356638977 | SOD3 | c.283G>C (p.Ala95Pro) n.473G>C | |
4 | g.24799804G>T | CA356638978 | SOD3 | c.283G>T (p.Ala95Ser) n.473G>T | gnomAD v4 |
4 | g.24799805C>A | CA356638980 | SOD3 | c.284C>A (p.Ala95Asp) n.474C>A | |
4 | g.24799805C= | CA1445032649 | SOD3 | c.284C= (p.Ala95=) n.474C= | |
4 | g.24799805C>G | CA356638981 | SOD3 | c.284C>G (p.Ala95Gly) n.474C>G | |
4 | g.24799805C>T | CA356638983 | SOD3 | c.284C>T (p.Ala95Val) n.474C>T | dbSNP gnomAD v2 |
4 | g.24799806C>A | CA438901917 | SOD3 | c.285C>A (p.Ala95=) n.475C>A | |
4 | g.24799806C= | CA1445032652 | SOD3 | c.285C= (p.Ala95=) n.475C= | |
4 | g.24799806C>G | CA438901918 | SOD3 | c.285C>G (p.Ala95=) n.475C>G | |
4 | g.24799806C>T | CA2876251 | SOD3 | c.285C>T (p.Ala95=) n.475C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799807T>A | CA356638985 | SOD3 | c.286T>A (p.Phe96Ile) n.476T>A | |
4 | g.24799807T>C | CA356638986 | SOD3 | c.286T>C (p.Phe96Leu) n.476T>C | |
4 | g.24799807T>G | CA356638988 | SOD3 | c.286T>G (p.Phe96Val) n.476T>G | gnomAD v4 |
4 | g.24799808T>A | CA356638992 | SOD3 | c.287T>A (p.Phe96Tyr) n.477T>A | |
4 | g.24799808T>C | CA356638994 | SOD3 | c.287T>C (p.Phe96Ser) n.477T>C | gnomAD v4 |
4 | g.24799808T>G | CA356638996 | SOD3 | c.287T>G (p.Phe96Cys) n.477T>G | |
4 | g.24799809C>A | CA356638997 | SOD3 | c.288C>A (p.Phe96Leu) n.478C>A | gnomAD v4 |
4 | g.24799809C>G | CA356638999 | SOD3 | c.288C>G (p.Phe96Leu) n.478C>G | |
4 | g.24799809C>T | CA438901921 | SOD3 | c.288C>T (p.Phe96=) n.478C>T | |
4 | g.24799810T>A | CA356639001 | SOD3 | c.289T>A (p.Phe97Ile) n.479T>A | gnomAD v4 |
4 | g.24799810T>C | CA356639004 | SOD3 | c.289T>C (p.Phe97Leu) n.479T>C | |
4 | g.24799810T>G | CA356639003 | SOD3 | c.289T>G (p.Phe97Val) n.479T>G | gnomAD v4 |
4 | g.24799811T>A | CA356639006 | SOD3 | c.290T>A (p.Phe97Tyr) n.480T>A | |
4 | g.24799811T>C | CA356639011 | SOD3 | c.290T>C (p.Phe97Ser) n.480T>C | gnomAD v4 |
4 | g.24799811T>G | CA356639012 | SOD3 | c.290T>G (p.Phe97Cys) n.480T>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799811T= | CA1445032656 | SOD3 | c.290T= (p.Phe97=) n.480T= | |
4 | g.24799812C>A | CA356639014 | SOD3 | c.291C>A (p.Phe97Leu) n.481C>A | |
4 | g.24799812C= | CA1445032659 | SOD3 | c.291C= (p.Phe97=) n.481C= | |
4 | g.24799812C>G | CA356639016 | SOD3 | c.291C>G (p.Phe97Leu) n.481C>G | |
4 | g.24799812C>T | CA94297226 | SOD3 | c.291C>T (p.Phe97=) n.481C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.24799813_24799815dup | CA2876252 | SOD3 | c.292_294dup (p.Ala98_Leu99insAla) n.482_484dup | dbSNP ExAC gnomAD v2 |
4 | g.24799813G>A | CA356639022 | SOD3 | c.292G>A (p.Ala98Thr) n.482G>A | |
4 | g.24799813G>C | CA356639018 | SOD3 | c.292G>C (p.Ala98Pro) n.482G>C | |
4 | g.24799813G= | CA1445032662 | SOD3 | c.292G= (p.Ala98=) n.482G= | |
4 | g.24799813G>T | CA2876253 | SOD3 | c.292G>T (p.Ala98Ser) n.482G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799814C>A | CA356639024 | SOD3 | c.293C>A (p.Ala98Asp) n.483C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799814C= | CA1445032665 | SOD3 | c.293C= (p.Ala98=) n.483C= | |
4 | g.24799814C>G | CA356639026 | SOD3 | c.293C>G (p.Ala98Gly) n.483C>G | |
4 | g.24799814C>T | CA356639028 | SOD3 | c.293C>T (p.Ala98Val) n.483C>T | |
4 | g.24799816del | CA2670208893 | SOD3 | c.295del (p.Leu99TrpfsTer23) n.485del | gnomAD v4 |
4 | g.24799815C>A | CA438901925 | SOD3 | c.294C>A (p.Ala98=) n.484C>A | |
4 | g.24799815C= | CA1445032666 | SOD3 | c.294C= (p.Ala98=) n.484C= | |
4 | g.24799815C>G | CA438901926 | SOD3 | c.294C>G (p.Ala98=) n.484C>G | |
4 | g.24799815C>T | CA438901927 | SOD3 | c.294C>T (p.Ala98=) n.484C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799816C>A | CA356639029 | SOD3 | c.295C>A (p.Leu99Met) n.485C>A | gnomAD v4 |
4 | g.24799816C>G | CA356639030 | SOD3 | c.295C>G (p.Leu99Val) n.485C>G | |
4 | g.24799816C>T | CA438901931 | SOD3 | c.295C>T (p.Leu99=) n.485C>T | |
4 | g.24799817T>A | CA356639032 | SOD3 | c.296T>A (p.Leu99Gln) n.486T>A | |
4 | g.24799817T>C | CA356639035 | SOD3 | c.296T>C (p.Leu99Pro) n.486T>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799817T>G | CA356639033 | SOD3 | c.296T>G (p.Leu99Arg) n.486T>G | |
4 | g.24799817T= | CA1445032668 | SOD3 | c.296T= (p.Leu99=) n.486T= | |
4 | g.24799818G>A | CA438901932 | SOD3 | c.297G>A (p.Leu99=) n.487G>A | |
4 | g.24799818G>C | CA438901933 | SOD3 | c.297G>C (p.Leu99=) n.487G>C | |
4 | g.24799818G>T | CA438901934 | SOD3 | c.297G>T (p.Leu99=) n.487G>T | gnomAD v4 |
4 | g.24799819G>A | CA356639037 | SOD3 | c.298G>A (p.Glu100Lys) n.488G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799819G>C | CA356639038 | SOD3 | c.298G>C (p.Glu100Gln) n.488G>C | |
4 | g.24799819G= | CA1445032670 | SOD3 | c.298G= (p.Glu100=) n.488G= | |
4 | g.24799819G>T | CA356639039 | SOD3 | c.298G>T (p.Glu100Ter) n.488G>T | gnomAD v4 |
4 | g.24799820A>C | CA356639041 | SOD3 | c.299A>C (p.Glu100Ala) n.489A>C | |
4 | g.24799820A>G | CA356639043 | SOD3 | c.299A>G (p.Glu100Gly) n.489A>G | gnomAD v4 |
4 | g.24799820A>T | CA356639045 | SOD3 | c.299A>T (p.Glu100Val) n.489A>T | gnomAD v4 |
4 | g.24799820dup | CA550665277 | SOD3 | c.299dup (p.Phe102LeufsTer?) n.489dup | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799821G>A | CA438901938 | SOD3 | c.300G>A (p.Glu100=) n.490G>A | |
4 | g.24799821G>C | CA356639047 | SOD3 | c.300G>C (p.Glu100Asp) n.490G>C | |
4 | g.24799821G>T | CA356639048 | SOD3 | c.300G>T (p.Glu100Asp) n.490G>T | gnomAD v4 |
4 | g.24799822G>A | CA356639049 | SOD3 | c.301G>A (p.Gly101Ser) n.491G>A | |
4 | g.24799822G>C | CA356639050 | SOD3 | c.301G>C (p.Gly101Arg) n.491G>C | |
4 | g.24799822G>T | CA356639052 | SOD3 | c.301G>T (p.Gly101Cys) n.491G>T | gnomAD v4 |
4 | g.24799823G>A | CA356639054 | SOD3 | c.302G>A (p.Gly101Asp) n.492G>A | gnomAD v4 |
4 | g.24799823G>C | CA356639057 | SOD3 | c.302G>C (p.Gly101Ala) n.492G>C | |
4 | g.24799823G>T | CA356639055 | SOD3 | c.302G>T (p.Gly101Val) n.492G>T | gnomAD v4 |
4 | g.24799824C>A | CA438901939 | SOD3 | c.303C>A (p.Gly101=) n.493C>A | |
4 | g.24799824C= | CA1445032674 | SOD3 | c.303C= (p.Gly101=) n.493C= | |
4 | g.24799824C>G | CA438901940 | SOD3 | c.303C>G (p.Gly101=) n.493C>G | |
4 | g.24799824C>T | CA2876254 | SOD3 | c.303C>T (p.Gly101=) n.493C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799825T>A | CA356639060 | SOD3 | c.304T>A (p.Phe102Ile) n.494T>A | |
4 | g.24799825T>C | CA94297227 | SOD3 | c.304T>C (p.Phe102Leu) n.494T>C | dbSNP gnomAD v4 |
4 | g.24799825T>G | CA356639061 | SOD3 | c.304T>G (p.Phe102Val) n.494T>G | |
4 | g.24799825T= | CA1445032676 | SOD3 | c.304T= (p.Phe102=) n.494T= | |
4 | g.24799826T>A | CA356639063 | SOD3 | c.305T>A (p.Phe102Tyr) n.495T>A | |
4 | g.24799826T>C | CA356639064 | SOD3 | c.305T>C (p.Phe102Ser) n.495T>C | |
4 | g.24799826T>G | CA356639065 | SOD3 | c.305T>G (p.Phe102Cys) n.495T>G | |
4 | g.24799826_24799827delinsTC | CA1445032678 | SOD3 | c.305_306delinsTC (p.Phe102=) n.495_496delinsTC | |
4 | g.24799827C>A | CA356639067 | SOD3 | c.306C>A (p.Phe102Leu) n.496C>A | |
4 | g.24799827C>G | CA356639069 | SOD3 | c.306C>G (p.Phe102Leu) n.496C>G | |
4 | g.24799827C>T | CA438901942 | SOD3 | c.306C>T (p.Phe102=) n.496C>T | gnomAD v4 |
4 | g.24799829del | CA1445032680 | SOD3 | c.308del (p.Pro103ArgfsTer19) n.498del | dbSNP |
4 | g.24799828C>A | CA356639070 | SOD3 | c.307C>A (p.Pro103Thr) n.497C>A | |
4 | g.24799828C= | CA1445032682 | SOD3 | c.307C= (p.Pro103=) n.497C= | |
4 | g.24799828C>G | CA356639072 | SOD3 | c.307C>G (p.Pro103Ala) n.497C>G | dbSNP gnomAD v4 |
4 | g.24799828C>T | CA356639073 | SOD3 | c.307C>T (p.Pro103Ser) n.497C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799829C>A | CA356639077 | SOD3 | c.308C>A (p.Pro103Gln) n.498C>A | gnomAD v4 |
4 | g.24799829C= | CA1445032684 | SOD3 | c.308C= (p.Pro103=) n.498C= | |
4 | g.24799829C>G | CA356639074 | SOD3 | c.308C>G (p.Pro103Arg) n.498C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799829C>T | CA356639075 | SOD3 | c.308C>T (p.Pro103Leu) n.498C>T | gnomAD v4 |
4 | g.24799830G>A | CA2876255 | SOD3 | c.309G>A (p.Pro103=) n.499G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799830G>C | CA438901943 | SOD3 | c.309G>C (p.Pro103=) n.499G>C | gnomAD v4 |
4 | g.24799830G= | CA1445032686 | SOD3 | c.309G= (p.Pro103=) n.499G= | |
4 | g.24799830G>T | CA438901945 | SOD3 | c.309G>T (p.Pro103=) n.499G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799831A= | CA1445032688 | SOD3 | c.310A= (p.Thr104=) n.500A= | |
4 | g.24799831A>C | CA356639080 | SOD3 | c.310A>C (p.Thr104Pro) n.500A>C | dbSNP gnomAD v2 |
4 | g.24799831A>G | CA356639081 | SOD3 | c.310A>G (p.Thr104Ala) n.500A>G | |
4 | g.24799831A>T | CA356639083 | SOD3 | c.310A>T (p.Thr104Ser) n.500A>T | |
4 | g.24799832C>A | CA356639085 | SOD3 | c.311C>A (p.Thr104Asn) n.501C>A | |
4 | g.24799832C>G | CA356639087 | SOD3 | c.311C>G (p.Thr104Ser) n.501C>G | |
4 | g.24799832C>T | CA356639088 | SOD3 | c.311C>T (p.Thr104Ile) n.501C>T | |
4 | g.24799833C>A | CA2876256 | SOD3 | c.312C>A (p.Thr104=) n.502C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799833C= | CA1445032693 | SOD3 | c.312C= (p.Thr104=) n.502C= | |
4 | g.24799833C>G | CA438901947 | SOD3 | c.312C>G (p.Thr104=) n.502C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799833C>T | CA438901946 | SOD3 | c.312C>T (p.Thr104=) n.502C>T | gnomAD v4 |
4 | g.24799834G>A | CA94297228 | SOD3 | c.313G>A (p.Glu105Lys) n.503G>A | dbSNP gnomAD v4 |
4 | g.24799834G>C | CA2876257 | SOD3 | c.313G>C (p.Glu105Gln) n.503G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799834G= | CA1445032696 | SOD3 | c.313G= (p.Glu105=) n.503G= | |
4 | g.24799834G>T | CA356639091 | SOD3 | c.313G>T (p.Glu105Ter) n.503G>T | gnomAD v4 |
4 | g.24799835A>C | CA356639094 | SOD3 | c.314A>C (p.Glu105Ala) n.504A>C | |
4 | g.24799835A>G | CA356639095 | SOD3 | c.314A>G (p.Glu105Gly) n.504A>G | |
4 | g.24799835A>T | CA356639092 | SOD3 | c.314A>T (p.Glu105Val) n.504A>T | |
4 | g.24799836G>A | CA438901949 | SOD3 | c.315G>A (p.Glu105=) n.505G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799836G>C | CA356639096 | SOD3 | c.315G>C (p.Glu105Asp) n.505G>C | |
4 | g.24799836G= | CA1445032700 | SOD3 | c.315G= (p.Glu105=) n.505G= | |
4 | g.24799836G>T | CA356639097 | SOD3 | c.315G>T (p.Glu105Asp) n.505G>T | dbSNP gnomAD v4 |
4 | g.24799837C>A | CA356639099 | SOD3 | c.316C>A (p.Pro106Thr) n.506C>A | gnomAD v4 |
4 | g.24799837C>G | CA356639100 | SOD3 | c.316C>G (p.Pro106Ala) n.506C>G | |
4 | g.24799837C>T | CA356639102 | SOD3 | c.316C>T (p.Pro106Ser) n.506C>T | gnomAD v4 |
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 |