Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.24800012C>A | CA2876287 | SOD3 | c.491C>A (p.Ala164Asp) n.681C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800012C= | CA1445032974 | SOD3 | c.491C= (p.Ala164=) n.681C= | |
4 | g.24800012C>G | CA356639792 | SOD3 | c.491C>G (p.Ala164Gly) n.681C>G | |
4 | g.24800012C>T | CA356639793 | SOD3 | c.491C>T (p.Ala164Val) n.681C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800013C>A | CA2876289 | SOD3 | c.492C>A (p.Ala164=) n.682C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800013C= | CA1445032977 | SOD3 | c.492C= (p.Ala164=) n.682C= | |
4 | g.24800013C>G | CA438902051 | SOD3 | c.492C>G (p.Ala164=) n.682C>G | |
4 | g.24800013C>T | CA2876288 | SOD3 | c.492C>T (p.Ala164=) n.682C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800014G>A | CA356639807 | SOD3 | c.493G>A (p.Ala165Thr) n.683G>A | gnomAD v4 |
4 | g.24800014G>C | CA356639809 | SOD3 | c.493G>C (p.Ala165Pro) n.683G>C | gnomAD v4 |
4 | g.24800014G>T | CA356639811 | SOD3 | c.493G>T (p.Ala165Ser) n.683G>T | gnomAD v4 |
4 | g.24800015C>A | CA356639813 | SOD3 | c.494C>A (p.Ala165Asp) n.684C>A | gnomAD v4 |
4 | g.24800015C>G | CA356639815 | SOD3 | c.494C>G (p.Ala165Gly) n.684C>G | |
4 | g.24800015C>T | CA356639818 | SOD3 | c.494C>T (p.Ala165Val) n.684C>T | |
4 | g.24800016C>A | CA438902057 | SOD3 | c.495C>A (p.Ala165=) n.685C>A | gnomAD v4 |
4 | g.24800016C>G | CA438902056 | SOD3 | c.495C>G (p.Ala165=) n.685C>G | |
4 | g.24800016C>T | CA438902055 | SOD3 | c.495C>T (p.Ala165=) n.685C>T | gnomAD v4 |
4 | g.24800016_24800017insAACCAGA | CA2760767561 | SOD3 | c.495_496insAACCAGA (p.Ser166AsnfsTer?) n.685_686insAACCAGA | |
4 | g.24800017T>A | CA356639820 | SOD3 | c.496T>A (p.Ser166Thr) n.686T>A | |
4 | g.24800017T>C | CA356639822 | SOD3 | c.496T>C (p.Ser166Pro) n.686T>C | gnomAD v4 |
4 | g.24800017T>G | CA356639823 | SOD3 | c.496T>G (p.Ser166Ala) n.686T>G | |
4 | g.24800018C>A | CA356639824 | SOD3 | c.497C>A (p.Ser166Ter) n.687C>A | gnomAD v4 |
4 | g.24800018C= | CA1445032980 | SOD3 | c.497C= (p.Ser166=) n.687C= | |
4 | g.24800018C>G | CA356639825 | SOD3 | c.497C>G (p.Ser166Trp) n.687C>G | |
4 | g.24800018C>T | CA94297236 | SOD3 | c.497C>T (p.Ser166Leu) n.687C>T | dbSNP gnomAD v4 |
4 | g.24800019G>A | CA438902060 | SOD3 | c.498G>A (p.Ser166=) n.688G>A | dbSNP gnomAD v4 |
4 | g.24800019G>C | CA438902061 | SOD3 | c.498G>C (p.Ser166=) n.688G>C | |
4 | g.24800019G>T | CA438902062 | SOD3 | c.498G>T (p.Ser166=) n.688G>T | gnomAD v4 |
4 | g.24800020C>A | CA356639833 | SOD3 | c.499C>A (p.Leu167Ile) n.689C>A | gnomAD v4 |
4 | g.24800020C>G | CA356639832 | SOD3 | c.499C>G (p.Leu167Val) n.689C>G | |
4 | g.24800020C>T | CA356639830 | SOD3 | c.499C>T (p.Leu167Phe) n.689C>T | gnomAD v4 |
4 | g.24800020_24800022del | CA2760767562 | SOD3 | c.499_501del (p.Leu167del) n.689_691del | |
4 | g.24800021T>A | CA356639835 | SOD3 | c.500T>A (p.Leu167His) n.690T>A | |
4 | g.24800021T>C | CA356639836 | SOD3 | c.500T>C (p.Leu167Pro) n.690T>C | |
4 | g.24800021T>G | CA356639837 | SOD3 | c.500T>G (p.Leu167Arg) n.690T>G | |
4 | g.24800022C>A | CA438902063 | SOD3 | c.501C>A (p.Leu167=) n.691C>A | gnomAD v4 |
4 | g.24800022C= | CA1445032985 | SOD3 | c.501C= (p.Leu167=) n.691C= | |
4 | g.24800022C>G | CA438902064 | SOD3 | c.501C>G (p.Leu167=) n.691C>G | gnomAD v4 |
4 | g.24800022C>T | CA438902065 | SOD3 | c.501C>T (p.Leu167=) n.691C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800024_24800025del | CA2670208903 | SOD3 | c.503_504del (p.Ala168GlyfsTer?) n.693_694del | gnomAD v4 |
4 | g.24800023G>A | CA2876290 | SOD3 | c.502G>A (p.Ala168Thr) n.692G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800023G>C | CA356639840 | SOD3 | c.502G>C (p.Ala168Pro) n.692G>C | |
4 | g.24800023G= | CA1445032987 | SOD3 | c.502G= (p.Ala168=) n.692G= | |
4 | g.24800023G>T | CA356639841 | SOD3 | c.502G>T (p.Ala168Ser) n.692G>T | gnomAD v4 |
4 | g.24800024C>A | CA356639851 | SOD3 | c.503C>A (p.Ala168Glu) n.693C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800024C= | CA1445032990 | SOD3 | c.503C= (p.Ala168=) n.693C= | |
4 | g.24800024C>G | CA356639852 | SOD3 | c.503C>G (p.Ala168Gly) n.693C>G | gnomAD v4 |
4 | g.24800024C>T | CA356639853 | SOD3 | c.503C>T (p.Ala168Val) n.693C>T | gnomAD v4 COSMIC |
4 | g.24800025G>A | CA438902066 | SOD3 | c.504G>A (p.Ala168=) n.694G>A | gnomAD v4 |
4 | g.24800025G>C | CA438902067 | SOD3 | c.504G>C (p.Ala168=) n.694G>C |