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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.24799979_24800002dup | CA2559771498 | SOD3 | c.458_481dup (p.Arg160_Ala161insAspGlySerLeuTrpArgTyrArg) n.648_671dup | gnomAD v4 |
| 4 | g.24799990T>A | CA356639688 | SOD3 | c.469T>A (p.Trp157Arg) n.659T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799990T>C | CA356639689 | SOD3 | c.469T>C (p.Trp157Arg) n.659T>C | |
| 4 | g.24799990T>G | CA356639691 | SOD3 | c.469T>G (p.Trp157Gly) n.659T>G | |
| 4 | g.24799990T= | CA1445032939 | SOD3 | c.469T= (p.Trp157=) n.659T= | |
| 4 | g.24799991G>A | CA356639693 | SOD3 | c.470G>A (p.Trp157Ter) n.660G>A | |
| 4 | g.24799991G>C | CA356639695 | SOD3 | c.470G>C (p.Trp157Ser) n.660G>C | |
| 4 | g.24799991G= | CA1445032942 | SOD3 | c.470G= (p.Trp157=) n.660G= | |
| 4 | g.24799991G>T | CA356639697 | SOD3 | c.470G>T (p.Trp157Leu) n.660G>T | gnomAD v4 |
| 4 | g.24799992G>A | CA356639703 | SOD3 | c.471G>A (p.Trp157Ter) n.661G>A | gnomAD v4 |
| 4 | g.24799992G>C | CA2876281 | SOD3 | c.471G>C (p.Trp157Cys) n.661G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799992G= | CA1445032944 | SOD3 | c.471G= (p.Trp157=) n.661G= | |
| 4 | g.24799992G>T | CA356639701 | SOD3 | c.471G>T (p.Trp157Cys) n.661G>T | gnomAD v4 |
| 4 | g.24799993_24799994dup | CA2876280 | SOD3 | c.472_473dup (p.Tyr159GlyfsTer?) n.662_663dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799993A>C | CA438902013 | SOD3 | c.472A>C (p.Arg158=) n.662A>C | |
| 4 | g.24799993A>G | CA356639708 | SOD3 | c.472A>G (p.Arg158Gly) n.662A>G | gnomAD v4 |
| 4 | g.24799993A>T | CA356639710 | SOD3 | c.472A>T (p.Arg158Trp) n.662A>T | |
| 4 | g.24799994G>A | CA2876282 | SOD3 | c.473G>A (p.Arg158Lys) n.663G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799994G>C | CA356639711 | SOD3 | c.473G>C (p.Arg158Thr) n.663G>C | gnomAD v4 |
| 4 | g.24799994G= | CA1445032946 | SOD3 | c.473G= (p.Arg158=) n.663G= | |
| 4 | g.24799994G>T | CA356639712 | SOD3 | c.473G>T (p.Arg158Met) n.663G>T | gnomAD v4 |
| 4 | g.24799995G>A | CA438902015 | SOD3 | c.474G>A (p.Arg158=) n.664G>A | gnomAD v4 |
| 4 | g.24799995G>C | CA356639713 | SOD3 | c.474G>C (p.Arg158Ser) n.664G>C | dbSNP gnomAD v2 |
| 4 | g.24799995G= | CA1445032948 | SOD3 | c.474G= (p.Arg158=) n.664G= | |
| 4 | g.24799995G>T | CA356639714 | SOD3 | c.474G>T (p.Arg158Ser) n.664G>T | gnomAD v4 |
| 4 | g.24799996T>A | CA356639715 | SOD3 | c.475T>A (p.Tyr159Asn) n.665T>A | |
| 4 | g.24799996T>C | CA356639716 | SOD3 | c.475T>C (p.Tyr159His) n.665T>C | gnomAD v4 |
| 4 | g.24799996T>G | CA356639717 | SOD3 | c.475T>G (p.Tyr159Asp) n.665T>G | |
| 4 | g.24799997A= | CA1445032950 | SOD3 | c.476A= (p.Tyr159=) n.666A= | |
| 4 | g.24799997A>C | CA356639718 | SOD3 | c.476A>C (p.Tyr159Ser) n.666A>C | |
| 4 | g.24799997A>G | CA356639719 | SOD3 | c.476A>G (p.Tyr159Cys) n.666A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799997A>T | CA356639720 | SOD3 | c.476A>T (p.Tyr159Phe) n.666A>T | gnomAD v4 |
| 4 | g.24799998C>A | CA356639721 | SOD3 | c.477C>A (p.Tyr159Ter) n.667C>A | |
| 4 | g.24799998C>G | CA356639723 | SOD3 | c.477C>G (p.Tyr159Ter) n.667C>G | |
| 4 | g.24799998C>T | CA438902022 | SOD3 | c.477C>T (p.Tyr159=) n.667C>T | gnomAD v4 |
| 4 | g.24799999C>A | CA356639726 | SOD3 | c.478C>A (p.Arg160Ser) n.668C>A | gnomAD v4 COSMIC |
| 4 | g.24799999C= | CA1445032953 | SOD3 | c.478C= (p.Arg160=) n.668C= | |
| 4 | g.24799999C>G | CA356639730 | SOD3 | c.478C>G (p.Arg160Gly) n.668C>G | |
| 4 | g.24799999C>T | CA356639728 | SOD3 | c.478C>T (p.Arg160Cys) n.668C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.24800000G>A | CA356639734 | SOD3 | c.479G>A (p.Arg160His) n.669G>A | gnomAD v4 |
| 4 | g.24800000G>C | CA356639735 | SOD3 | c.479G>C (p.Arg160Pro) n.669G>C | gnomAD v4 |
| 4 | g.24800000G>T | CA356639737 | SOD3 | c.479G>T (p.Arg160Leu) n.669G>T | gnomAD v4 |
| 4 | g.24800001C>A | CA438902025 | SOD3 | c.480C>A (p.Arg160=) n.670C>A | gnomAD v4 |
| 4 | g.24800001C= | CA1445032956 | SOD3 | c.480C= (p.Arg160=) n.670C= | |
| 4 | g.24800001C>G | CA438902027 | SOD3 | c.480C>G (p.Arg160=) n.670C>G | |
| 4 | g.24800001C>T | CA94297234 | SOD3 | c.480C>T (p.Arg160=) n.670C>T | dbSNP gnomAD v4 |
| 4 | g.24800002G>A | CA356639740 | SOD3 | c.481G>A (p.Ala161Thr) n.671G>A | gnomAD v4 |
| 4 | g.24800002G>C | CA356639741 | SOD3 | c.481G>C (p.Ala161Pro) n.671G>C | |
| 4 | g.24800002G>T | CA356639748 | SOD3 | c.481G>T (p.Ala161Ser) n.671G>T | gnomAD v4 |
| 4 | g.24800003C>A | CA356639750 | SOD3 | c.482C>A (p.Ala161Asp) n.672C>A | gnomAD v4 |
| 4 | g.24800003C= | CA1445032958 | SOD3 | c.482C= (p.Ala161=) n.672C= | |
| 4 | g.24800003C>G | CA356639751 | SOD3 | c.482C>G (p.Ala161Gly) n.672C>G | |
| 4 | g.24800003C>T | CA2876283 | SOD3 | c.482C>T (p.Ala161Val) n.672C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800004C>A | CA2876284 | SOD3 | c.483C>A (p.Ala161=) n.673C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24800004C= | CA1445032961 | SOD3 | c.483C= (p.Ala161=) n.673C= | |
| 4 | g.24800004C>G | CA438902032 | SOD3 | c.483C>G (p.Ala161=) n.673C>G | |
| 4 | g.24800004C>T | CA438902033 | SOD3 | c.483C>T (p.Ala161=) n.673C>T | gnomAD v4 |
| 4 | g.24800005G>A | CA2876285 | SOD3 | c.484G>A (p.Gly162Ser) n.674G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24800005G>C | CA356639758 | SOD3 | c.484G>C (p.Gly162Arg) n.674G>C | |
| 4 | g.24800005G= | CA1445032963 | SOD3 | c.484G= (p.Gly162=) n.674G= | |
| 4 | g.24800005G>T | CA356639760 | SOD3 | c.484G>T (p.Gly162Cys) n.674G>T | gnomAD v4 |
| 4 | g.24800006G>A | CA2876286 | SOD3 | c.485G>A (p.Gly162Asp) n.675G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.24800006G>C | CA356639765 | SOD3 | c.485G>C (p.Gly162Ala) n.675G>C | gnomAD v4 |
| 4 | g.24800006G= | CA1445032966 | SOD3 | c.485G= (p.Gly162=) n.675G= | |
| 4 | g.24800006G>T | CA356639763 | SOD3 | c.485G>T (p.Gly162Val) n.675G>T | gnomAD v4 |
| 4 | g.24800007C>A | CA438902040 | SOD3 | c.486C>A (p.Gly162=) n.676C>A | gnomAD v4 |
| 4 | g.24800007C>G | CA438902039 | SOD3 | c.486C>G (p.Gly162=) n.676C>G | |
| 4 | g.24800007C>T | CA438902037 | SOD3 | c.486C>T (p.Gly162=) n.676C>T | gnomAD v4 |
| 4 | g.24800008C>A | CA356639768 | SOD3 | c.487C>A (p.Leu163Met) n.677C>A | gnomAD v4 |
| 4 | g.24800008C>G | CA356639770 | SOD3 | c.487C>G (p.Leu163Val) n.677C>G | |
| 4 | g.24800008C>T | CA438902041 | SOD3 | c.487C>T (p.Leu163=) n.677C>T | |
| 4 | g.24800009T>A | CA356639773 | SOD3 | c.488T>A (p.Leu163Gln) n.678T>A | |
| 4 | g.24800009T>C | CA356639775 | SOD3 | c.488T>C (p.Leu163Pro) n.678T>C | dbSNP gnomAD v4 |
| 4 | g.24800009T>G | CA356639783 | SOD3 | c.488T>G (p.Leu163Arg) n.678T>G | |
| 4 | g.24800009T= | CA1445032969 | SOD3 | c.488T= (p.Leu163=) n.678T= | |
| 4 | g.24800010G>A | CA438902043 | SOD3 | c.489G>A (p.Leu163=) n.679G>A | |
| 4 | g.24800010G>C | CA438902045 | SOD3 | c.489G>C (p.Leu163=) n.679G>C | |
| 4 | g.24800010G>T | CA438902044 | SOD3 | c.489G>T (p.Leu163=) n.679G>T | gnomAD v4 |
| 4 | g.24800011del | CA2670208902 | SOD3 | c.490del (p.Ala164ProfsTer?) n.680del | dbSNP gnomAD v4 |
| 4 | g.24800011G>A | CA94297235 | SOD3 | c.490G>A (p.Ala164Thr) n.680G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800011G>C | CA356639786 | SOD3 | c.490G>C (p.Ala164Pro) n.680G>C | |
| 4 | g.24800011G= | CA1445032971 | SOD3 | c.490G= (p.Ala164=) n.680G= | |
| 4 | g.24800011G>T | CA356639788 | SOD3 | c.490G>T (p.Ala164Ser) n.680G>T | gnomAD v4 |
| 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 | |
| 4 | g.24800025G>T | CA438902068 | SOD3 | c.504G>T (p.Ala168=) n.694G>T | gnomAD v4 |
| 4 | g.24800030_24800047dup | CA2760767563 | SOD3 | c.509_526dup (p.Gly175_Arg176insProHisSerIleValGly) n.699_716dup | |
| 4 | g.24800025_24800026insT | CA2760767564 | SOD3 | c.504_505insT (p.Gly169TrpfsTer?) n.694_695insT | |
| 4 | g.24800026G>A | CA2876291 | SOD3 | c.505G>A (p.Gly169Ser) n.695G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24800026G>C | CA356639855 | SOD3 | c.505G>C (p.Gly169Arg) n.695G>C | |
| 4 | g.24800026G= | CA1445032993 | SOD3 | c.505G= (p.Gly169=) n.695G= | |
| 4 | g.24800026G>T | CA356639857 | SOD3 | c.505G>T (p.Gly169Cys) n.695G>T | gnomAD v4 |
| 4 | g.24800026_24800027insA | CA2760767565 | SOD3 | c.505_506insA (p.Gly169GlufsTer?) n.695_696insA | |
| 4 | g.24800027G>A | CA356639863 | SOD3 | c.506G>A (p.Gly169Asp) n.696G>A | gnomAD v4 |
| 4 | g.24800027G>C | CA356639862 | SOD3 | c.506G>C (p.Gly169Ala) n.696G>C | |
| 4 | g.24800027G>T | CA356639860 | SOD3 | c.506G>T (p.Gly169Val) n.696G>T | gnomAD v4 |
| 4 | g.24800028C>A | CA438902069 | SOD3 | c.507C>A (p.Gly169=) n.697C>A | gnomAD v4 |
| 4 | g.24800028C= | CA1445032996 | SOD3 | c.507C= (p.Gly169=) n.697C= | |
| 4 | g.24800028C>G | CA438902070 | SOD3 | c.507C>G (p.Gly169=) n.697C>G | |
| 4 | g.24800028C>T | CA438902071 | SOD3 | c.507C>T (p.Gly169=) n.697C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800029C>A | CA356639864 | SOD3 | c.508C>A (p.Pro170Thr) n.698C>A | gnomAD v4 |
| 4 | g.24800029C>G | CA356639866 | SOD3 | c.508C>G (p.Pro170Ala) n.698C>G | |
| 4 | g.24800029C>T | CA356639865 | SOD3 | c.508C>T (p.Pro170Ser) n.698C>T | gnomAD v4 |
| 4 | g.24800029_24800030insTG | CA2760767566 | SOD3 | c.508_509insTG (p.Pro170LeufsTer?) n.698_699insTG | |
| 4 | g.24800030C>A | CA356639867 | SOD3 | c.509C>A (p.Pro170Gln) n.699C>A | ClinVar gnomAD v4 |
| 4 | g.24800030C>G | CA356639871 | SOD3 | c.509C>G (p.Pro170Arg) n.699C>G | |
| 4 | g.24800030C>T | CA356639869 | SOD3 | c.509C>T (p.Pro170Leu) n.699C>T | gnomAD v4 |
| 4 | g.24800030_24800031insACGATGGAGTGCGGGCCCGCGA | CA2838904178 | SOD3 | c.509_510insACGATGGAGTGCGGGCCCGCGA (p.His171ArgfsTer?) n.699_700insACGATGGAGTGCGGGCCCGCGA | |
| 4 | g.24800031G>A | CA94297237 | SOD3 | c.510G>A (p.Pro170=) n.700G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800031G>C | CA438902072 | SOD3 | c.510G>C (p.Pro170=) n.700G>C | |
| 4 | g.24800031G= | CA1445032998 | SOD3 | c.510G= (p.Pro170=) n.700G= | |
| 4 | g.24800031G>T | CA438902073 | SOD3 | c.510G>T (p.Pro170=) n.700G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800032C>A | CA356639877 | SOD3 | c.511C>A (p.His171Asn) n.701C>A | gnomAD v4 |
| 4 | g.24800032C= | CA1445033002 | SOD3 | c.511C= (p.His171=) n.701C= | |
| 4 | g.24800032C>G | CA356639880 | SOD3 | c.511C>G (p.His171Asp) n.701C>G | |
| 4 | g.24800032C>T | CA356639883 | SOD3 | c.511C>T (p.His171Tyr) n.701C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800033A>C | CA356639884 | SOD3 | c.512A>C (p.His171Pro) n.702A>C | |
| 4 | g.24800033A>G | CA356639885 | SOD3 | c.512A>G (p.His171Arg) n.702A>G | gnomAD v4 |
| 4 | g.24800033A>T | CA356639886 | SOD3 | c.512A>T (p.His171Leu) n.702A>T | gnomAD v4 |
| 4 | g.24800034C>A | CA356639887 | SOD3 | c.513C>A (p.His171Gln) n.703C>A | gnomAD v4 |
| 4 | g.24800034C= | CA1445033006 | SOD3 | c.513C= (p.His171=) n.703C= | |
| 4 | g.24800034C>G | CA356639889 | SOD3 | c.513C>G (p.His171Gln) n.703C>G | |
| 4 | g.24800034C>T | CA2876292 | SOD3 | c.513C>T (p.His171=) n.703C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800034_24800035insCT | CA2760767567 | SOD3 | c.513_514insCT (p.Ser172LeufsTer?) n.703_704insCT | |
| 4 | g.24800035T>A | CA356639892 | SOD3 | c.514T>A (p.Ser172Thr) n.704T>A | |
| 4 | g.24800035T>C | CA356639891 | SOD3 | c.514T>C (p.Ser172Pro) n.704T>C | gnomAD v4 |
| 4 | g.24800035T>G | CA356639890 | SOD3 | c.514T>G (p.Ser172Ala) n.704T>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800035T= | CA1445033010 | SOD3 | c.514T= (p.Ser172=) n.704T= | |
| 4 | g.24800036C>A | CA356639893 | SOD3 | c.515C>A (p.Ser172Tyr) n.705C>A | gnomAD v4 |
| 4 | g.24800036C>G | CA356639894 | SOD3 | c.515C>G (p.Ser172Cys) n.705C>G | |
| 4 | g.24800036C>T | CA356639895 | SOD3 | c.515C>T (p.Ser172Phe) n.705C>T | |
| 4 | g.24800036_24800037insTCCTGGAA | CA2760767568 | SOD3 | c.515_516insTCCTGGAA (p.Ile173ProfsTer?) n.705_706insTCCTGGAA | |
| 4 | g.24800037C>A | CA438902075 | SOD3 | c.516C>A (p.Ser172=) n.706C>A | gnomAD v4 |
| 4 | g.24800037C= | CA1445033013 | SOD3 | c.516C= (p.Ser172=) n.706C= | |
| 4 | g.24800037C>G | CA438902076 | SOD3 | c.516C>G (p.Ser172=) n.706C>G | gnomAD v4 |
| 4 | g.24800037C>T | CA2876293 | SOD3 | c.516C>T (p.Ser172=) n.706C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.24800038A= | CA1445033015 | SOD3 | c.517A= (p.Ile173=) n.707A= | |
| 4 | g.24800038A>C | CA356639896 | SOD3 | c.517A>C (p.Ile173Leu) n.707A>C | |
| 4 | g.24800038A>G | CA356639898 | SOD3 | c.517A>G (p.Ile173Val) n.707A>G | dbSNP gnomAD v4 |
| 4 | g.24800038A>T | CA356639906 | SOD3 | c.517A>T (p.Ile173Phe) n.707A>T | |
| 4 | g.24800039T>A | CA356639909 | SOD3 | c.518T>A (p.Ile173Asn) n.708T>A | |
| 4 | g.24800039T>C | CA356639911 | SOD3 | c.518T>C (p.Ile173Thr) n.708T>C | |
| 4 | g.24800039T>G | CA356639914 | SOD3 | c.518T>G (p.Ile173Ser) n.708T>G | |
| 4 | g.24800040C>A | CA438902078 | SOD3 | c.519C>A (p.Ile173=) n.709C>A | gnomAD v4 |
| 4 | g.24800040C= | CA1445033017 | SOD3 | c.519C= (p.Ile173=) n.709C= | |
| 4 | g.24800040C>G | CA356639917 | SOD3 | c.519C>G (p.Ile173Met) n.709C>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800040C>T | CA438902077 | SOD3 | c.519C>T (p.Ile173=) n.709C>T | gnomAD v4 |
| 4 | g.24800041G>A | CA356639921 | SOD3 | c.520G>A (p.Val174Met) n.710G>A | gnomAD v4 |
| 4 | g.24800041G>C | CA356639923 | SOD3 | c.520G>C (p.Val174Leu) n.710G>C | |
| 4 | g.24800041G>T | CA356639919 | SOD3 | c.520G>T (p.Val174Leu) n.710G>T | gnomAD v4 |
| 4 | g.24800041_24800080delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC | CA1445033019 | SOD3 | c.520_559delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC (p.Val174=) n.710_749delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC | |
| 4 | g.24800042T>A | CA356639927 | SOD3 | c.521T>A (p.Val174Glu) n.711T>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800042T>C | CA356639928 | SOD3 | c.521T>C (p.Val174Ala) n.711T>C | gnomAD v4 |
| 4 | g.24800042T>G | CA356639930 | SOD3 | c.521T>G (p.Val174Gly) n.711T>G | |
| 4 | g.24800042T= | CA1445033023 | SOD3 | c.521T= (p.Val174=) n.711T= | |
| 4 | g.24800049_24800087del | CA2876294 | SOD3 | c.528_566del (p.Ala177_Arg189del) n.718_756del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800043G>A | CA438902079 | SOD3 | c.522G>A (p.Val174=) n.712G>A | gnomAD v4 |
| 4 | g.24800043G>C | CA438902080 | SOD3 | c.522G>C (p.Val174=) n.712G>C | |
| 4 | g.24800043G>T | CA438902081 | SOD3 | c.522G>T (p.Val174=) n.712G>T | gnomAD v4 |
| 4 | g.24800044G>A | CA356639940 | SOD3 | c.523G>A (p.Gly175Ser) n.713G>A | |
| 4 | g.24800044G>C | CA356639937 | SOD3 | c.523G>C (p.Gly175Arg) n.713G>C | |
| 4 | g.24800044G>T | CA356639935 | SOD3 | c.523G>T (p.Gly175Cys) n.713G>T | gnomAD v4 |
| 4 | g.24800045G>A | CA2876295 | SOD3 | c.524G>A (p.Gly175Asp) n.714G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800045G>C | CA356639944 | SOD3 | c.524G>C (p.Gly175Ala) n.714G>C | |
| 4 | g.24800045G= | CA1445033028 | SOD3 | c.524G= (p.Gly175=) n.714G= | |
| 4 | g.24800045G>T | CA356639946 | SOD3 | c.524G>T (p.Gly175Val) n.714G>T | gnomAD v4 |
| 4 | g.24800046C>A | CA438902082 | SOD3 | c.525C>A (p.Gly175=) n.715C>A | gnomAD v4 |
| 4 | g.24800046C= | CA1445033031 | SOD3 | c.525C= (p.Gly175=) n.715C= | |
| 4 | g.24800046C>G | CA438902083 | SOD3 | c.525C>G (p.Gly175=) n.715C>G | |
| 4 | g.24800046C>T | CA438902084 | SOD3 | c.525C>T (p.Gly175=) n.715C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800046_24800047insGAGAT | CA2760767569 | SOD3 | c.525_526insGAGAT (p.Arg176GlufsTer?) n.715_716insGAGAT | |
| 4 | g.24800047C>A | CA2876296 | SOD3 | c.526C>A (p.Arg176=) n.716C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800047C= | CA1445033032 | SOD3 | c.526C= (p.Arg176=) n.716C= | |
| 4 | g.24800047C>G | CA356639950 | SOD3 | c.526C>G (p.Arg176Gly) n.716C>G | |
| 4 | g.24800047C>T | CA356639951 | SOD3 | c.526C>T (p.Arg176Trp) n.716C>T | gnomAD v4 |
| 4 | g.24800048G>A | CA356639953 | SOD3 | c.527G>A (p.Arg176Gln) n.717G>A | gnomAD v4 |
| 4 | g.24800048G>C | CA356639960 | SOD3 | c.527G>C (p.Arg176Pro) n.717G>C | |
| 4 | g.24800048G>T | CA356639958 | SOD3 | c.527G>T (p.Arg176Leu) n.717G>T | gnomAD v4 |
| 4 | g.24800048_24800049insC | CA2578057459 | SOD3 | c.527_528insC (p.Ala177GlyfsTer?) n.717_718insC | |
| 4 | g.24800049G>A | CA438902085 | SOD3 | c.528G>A (p.Arg176=) n.718G>A | dbSNP gnomAD v4 |
| 4 | g.24800049G>C | CA438902086 | SOD3 | c.528G>C (p.Arg176=) n.718G>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800049G= | CA1445033034 | SOD3 | c.528G= (p.Arg176=) n.718G= | |
| 4 | g.24800049G>T | CA438902087 | SOD3 | c.528G>T (p.Arg176=) n.718G>T | gnomAD v4 |
| 4 | g.24800049_24800050insTTACGT | CA2760767570 | SOD3 | c.528_529insTTACGT (p.Arg176_Ala177insLeuArg) n.718_719insTTACGT | |
| 4 | g.24800050G>A | CA356639962 | SOD3 | c.529G>A (p.Ala177Thr) n.719G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800050G>C | CA356639964 | SOD3 | c.529G>C (p.Ala177Pro) n.719G>C | gnomAD v4 |
| 4 | g.24800050G= | CA1445033036 | SOD3 | c.529G= (p.Ala177=) n.719G= | |
| 4 | g.24800050G>T | CA356639966 | SOD3 | c.529G>T (p.Ala177Ser) n.719G>T | gnomAD v4 |
| 4 | g.24800051C>A | CA356639967 | SOD3 | c.530C>A (p.Ala177Asp) n.720C>A | gnomAD v4 |
| 4 | g.24800051C= | CA1445033038 | SOD3 | c.530C= (p.Ala177=) n.720C= | |
| 4 | g.24800051C>G | CA356639968 | SOD3 | c.530C>G (p.Ala177Gly) n.720C>G | |
| 4 | g.24800051C>T | CA2876297 | SOD3 | c.530C>T (p.Ala177Val) n.720C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800052dup | CA2578057460 | SOD3 | c.531dup (p.Val178ArgfsTer?) n.721dup | |
| 4 | g.24800051_24800052insTCAACCCCCGCAT | CA2760767571 | SOD3 | c.530_531insTCAACCCCCGCAT (p.Val178GlnfsTer?) n.720_721insTCAACCCCCGCAT | |
| 4 | g.24800052C>A | CA438902088 | SOD3 | c.531C>A (p.Ala177=) n.721C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800052C= | CA1445033040 | SOD3 | c.531C= (p.Ala177=) n.721C= | |
| 4 | g.24800052C>G | CA438902089 | SOD3 | c.531C>G (p.Ala177=) n.721C>G | |
| 4 | g.24800052C>T | CA438902090 | SOD3 | c.531C>T (p.Ala177=) n.721C>T | gnomAD v4 |
| 4 | g.24800053G>A | CA356639969 | SOD3 | c.532G>A (p.Val178Met) n.722G>A | gnomAD v4 |
| 4 | g.24800053G>C | CA356639970 | SOD3 | c.532G>C (p.Val178Leu) n.722G>C | dbSNP gnomAD v4 |
| 4 | g.24800053G= | CA1445033046 | SOD3 | c.532G= (p.Val178=) n.722G= | |
| 4 | g.24800053G>T | CA356639971 | SOD3 | c.532G>T (p.Val178Leu) n.722G>T | dbSNP gnomAD v4 |
| 4 | g.24800054T>A | CA356639973 | SOD3 | c.533T>A (p.Val178Glu) n.723T>A | |
| 4 | g.24800054T>C | CA356639975 | SOD3 | c.533T>C (p.Val178Ala) n.723T>C | gnomAD v4 |
| 4 | g.24800054T>G | CA356639978 | SOD3 | c.533T>G (p.Val178Gly) n.723T>G | |
| 4 | g.24800055G>A | CA438902091 | SOD3 | c.534G>A (p.Val178=) n.724G>A | gnomAD v4 |
| 4 | g.24800055G>C | CA438902092 | SOD3 | c.534G>C (p.Val178=) n.724G>C | gnomAD v4 |
| 4 | g.24800055G>T | CA438902093 | SOD3 | c.534G>T (p.Val178=) n.724G>T | gnomAD v4 |
| 4 | g.24800056G>A | CA356639981 | SOD3 | c.535G>A (p.Val179Ile) n.725G>A | gnomAD v4 |
| 4 | g.24800056G>C | CA356639982 | SOD3 | c.535G>C (p.Val179Leu) n.725G>C | |
| 4 | g.24800056G>T | CA356639980 | SOD3 | c.535G>T (p.Val179Phe) n.725G>T | |
| 4 | g.24800057T>A | CA356639985 | SOD3 | c.536T>A (p.Val179Asp) n.726T>A | |
| 4 | g.24800057T>C | CA356639983 | SOD3 | c.536T>C (p.Val179Ala) n.726T>C | gnomAD v4 |
| 4 | g.24800057T>G | CA356639984 | SOD3 | c.536T>G (p.Val179Gly) n.726T>G | ClinVar |
| 4 | g.24800057_24800060del | CA2760767572 | SOD3 | c.536_539del (p.Val179AlafsTer?) n.726_729del | |
| 4 | g.24800058C>A | CA438902094 | SOD3 | c.537C>A (p.Val179=) n.727C>A | gnomAD v4 |
| 4 | g.24800058C>G | CA438902095 | SOD3 | c.537C>G (p.Val179=) n.727C>G | |
| 4 | g.24800058C>T | CA438902096 | SOD3 | c.537C>T (p.Val179=) n.727C>T | gnomAD v4 |
| 4 | g.24800059G>A | CA356639986 | SOD3 | c.538G>A (p.Val180Ile) n.728G>A | gnomAD v4 |
| 4 | g.24800059G>C | CA356639987 | SOD3 | c.538G>C (p.Val180Leu) n.728G>C | |
| 4 | g.24800059G>T | CA356639989 | SOD3 | c.538G>T (p.Val180Phe) n.728G>T | |
| 4 | g.24800060T>A | CA356639991 | SOD3 | c.539T>A (p.Val180Asp) n.729T>A | gnomAD v4 |
| 4 | g.24800060T>C | CA356639993 | SOD3 | c.539T>C (p.Val180Ala) n.729T>C | gnomAD v4 |
| 4 | g.24800060T>G | CA356639996 | SOD3 | c.539T>G (p.Val180Gly) n.729T>G | |
| 4 | g.24800061C>A | CA438902099 | SOD3 | c.540C>A (p.Val180=) n.730C>A | |
| 4 | g.24800061C>G | CA438902098 | SOD3 | c.540C>G (p.Val180=) n.730C>G | dbSNP |
| 4 | g.24800061C>T | CA438902097 | SOD3 | c.540C>T (p.Val180=) n.730C>T | |
| 4 | g.24800062C>A | CA356639998 | SOD3 | c.541C>A (p.His181Asn) n.731C>A | gnomAD v4 |
| 4 | g.24800062C>G | CA356640001 | SOD3 | c.541C>G (p.His181Asp) n.731C>G | |
| 4 | g.24800062C>T | CA356640002 | SOD3 | c.541C>T (p.His181Tyr) n.731C>T | gnomAD v4 |
| 4 | g.24800063A>C | CA356640003 | SOD3 | c.542A>C (p.His181Pro) n.732A>C | |
| 4 | g.24800063A>G | CA356640004 | SOD3 | c.542A>G (p.His181Arg) n.732A>G | gnomAD v4 |
| 4 | g.24800063A>T | CA356640005 | SOD3 | c.542A>T (p.His181Leu) n.732A>T | |
| 4 | g.24800063_24800065del | CA2760767573 | SOD3 | c.542_544del (p.His181_Ala182delinsPro) n.732_734del | |
| 4 | g.24800064C>A | CA356640007 | SOD3 | c.543C>A (p.His181Gln) n.733C>A | gnomAD v4 |
| 4 | g.24800064C= | CA1445033047 | SOD3 | c.543C= (p.His181=) n.733C= | |
| 4 | g.24800064C>G | CA356640008 | SOD3 | c.543C>G (p.His181Gln) n.733C>G | dbSNP |
| 4 | g.24800064C>T | CA438902100 | SOD3 | c.543C>T (p.His181=) n.733C>T | gnomAD v4 |
| 4 | g.24800065G>A | CA356640011 | SOD3 | c.544G>A (p.Ala182Thr) n.734G>A | gnomAD v4 |
| 4 | g.24800065G>C | CA356640012 | SOD3 | c.544G>C (p.Ala182Pro) n.734G>C | gnomAD v4 |
| 4 | g.24800065G>T | CA356640023 | SOD3 | c.544G>T (p.Ala182Ser) n.734G>T | gnomAD v4 |
| 4 | g.24800066C>A | CA356640025 | SOD3 | c.545C>A (p.Ala182Asp) n.735C>A | gnomAD v4 |
| 4 | g.24800066C= | CA1445033052 | SOD3 | c.545C= (p.Ala182=) n.735C= | |
| 4 | g.24800066C>G | CA356640026 | SOD3 | c.545C>G (p.Ala182Gly) n.735C>G | |
| 4 | g.24800066C>T | CA94297238 | SOD3 | c.545C>T (p.Ala182Val) n.735C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800067T>A | CA438902101 | SOD3 | c.546T>A (p.Ala182=) n.736T>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800067T>C | CA438902102 | SOD3 | c.546T>C (p.Ala182=) n.736T>C | gnomAD v4 |
| 4 | g.24800067T>G | CA438902103 | SOD3 | c.546T>G (p.Ala182=) n.736T>G | |
| 4 | g.24800067T= | CA1445033053 | SOD3 | c.546T= (p.Ala182=) n.736T= | |
| 4 | g.24800068G>A | CA2876298 | SOD3 | c.547G>A (p.Gly183Ser) n.737G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24800068G>C | CA356640031 | SOD3 | c.547G>C (p.Gly183Arg) n.737G>C | |
| 4 | g.24800068G= | CA1445033055 | SOD3 | c.547G= (p.Gly183=) n.737G= | |
| 4 | g.24800068G>T | CA356640032 | SOD3 | c.547G>T (p.Gly183Cys) n.737G>T | |
| 4 | g.24800069del | CA2670208904 | SOD3 | c.548del (p.Gly183AlafsTer?) n.738del | gnomAD v4 |
| 4 | g.24800068_24800069insA | CA2760767574 | SOD3 | c.547_548insA (p.Gly183GlufsTer?) n.737_738insA | |
| 4 | g.24800069G>A | CA356640035 | SOD3 | c.548G>A (p.Gly183Asp) n.738G>A | gnomAD v4 |
| 4 | g.24800069G>C | CA356640037 | SOD3 | c.548G>C (p.Gly183Ala) n.738G>C | |
| 4 | g.24800069G= | CA1445033057 | SOD3 | c.548G= (p.Gly183=) n.738G= | |
| 4 | g.24800069G>T | CA94297239 | SOD3 | c.548G>T (p.Gly183Val) n.738G>T | dbSNP gnomAD v4 |
| 4 | g.24800070C>A | CA438902104 | SOD3 | c.549C>A (p.Gly183=) n.739C>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800070C= | CA1445033061 | SOD3 | c.549C= (p.Gly183=) n.739C= | |
| 4 | g.24800070C>G | CA438902105 | SOD3 | c.549C>G (p.Gly183=) n.739C>G | gnomAD v4 |
| 4 | g.24800070C>T | CA438902106 | SOD3 | c.549C>T (p.Gly183=) n.739C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800071G>A | CA356640041 | SOD3 | c.550G>A (p.Glu184Lys) n.740G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800071G>C | CA356640039 | SOD3 | c.550G>C (p.Glu184Gln) n.740G>C | |
| 4 | g.24800071G= | CA1445033063 | SOD3 | c.550G= (p.Glu184=) n.740G= | |
| 4 | g.24800071G>T | CA356640038 | SOD3 | c.550G>T (p.Glu184Ter) n.740G>T | |
| 4 | g.24800072A= | CA1445033067 | SOD3 | c.551A= (p.Glu184=) n.741A= | |
| 4 | g.24800072A>C | CA356640043 | SOD3 | c.551A>C (p.Glu184Ala) n.741A>C | |
| 4 | g.24800072A>G | CA356640045 | SOD3 | c.551A>G (p.Glu184Gly) n.741A>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800072A>T | CA356640046 | SOD3 | c.551A>T (p.Glu184Val) n.741A>T | gnomAD v4 |
| 4 | g.24800073G>A | CA438902108 | SOD3 | c.552G>A (p.Glu184=) n.742G>A | gnomAD v4 |
| 4 | g.24800073G>C | CA356640049 | SOD3 | c.552G>C (p.Glu184Asp) n.742G>C | gnomAD v4 |
| 4 | g.24800073G>T | CA356640050 | SOD3 | c.552G>T (p.Glu184Asp) n.742G>T | gnomAD v4 |
| 4 | g.24800074G>A | CA94297240 | SOD3 | c.553G>A (p.Asp185Asn) n.743G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800074G>C | CA356640054 | SOD3 | c.553G>C (p.Asp185His) n.743G>C | gnomAD v4 |
| 4 | g.24800074G= | CA1445033068 | SOD3 | c.553G= (p.Asp185=) n.743G= | |
| 4 | g.24800074G>T | CA356640056 | SOD3 | c.553G>T (p.Asp185Tyr) n.743G>T | |
| 4 | g.24800075A= | CA1445033070 | SOD3 | c.554A= (p.Asp185=) n.744A= | |
| 4 | g.24800075A>C | CA356640058 | SOD3 | c.554A>C (p.Asp185Ala) n.744A>C | |
| 4 | g.24800075A>G | CA356640060 | SOD3 | c.554A>G (p.Asp185Gly) n.744A>G | dbSNP gnomAD v4 |
| 4 | g.24800075A>T | CA356640062 | SOD3 | c.554A>T (p.Asp185Val) n.744A>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800076C>A | CA356640064 | SOD3 | c.555C>A (p.Asp185Glu) n.745C>A | gnomAD v4 |
| 4 | g.24800076C= | CA1445033072 | SOD3 | c.555C= (p.Asp185=) n.745C= | |
| 4 | g.24800076C>G | CA356640066 | SOD3 | c.555C>G (p.Asp185Glu) n.745C>G | |
| 4 | g.24800076C>T | CA438902109 | SOD3 | c.555C>T (p.Asp185=) n.745C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800076_24800077insCT | CA2670208905 | SOD3 | c.555_556insCT (p.Asp186LeufsTer?) n.745_746insCT | gnomAD v4 |
| 4 | g.24800077G>A | CA94297241 | SOD3 | c.556G>A (p.Asp186Asn) n.746G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800077G>C | CA356640070 | SOD3 | c.556G>C (p.Asp186His) n.746G>C | gnomAD v4 |
| 4 | g.24800077G= | CA1445033074 | SOD3 | c.556G= (p.Asp186=) n.746G= | |
| 4 | g.24800077G>T | CA356640068 | SOD3 | c.556G>T (p.Asp186Tyr) n.746G>T | gnomAD v4 |
| 4 | g.24800078A= | CA1445033079 | SOD3 | c.557A= (p.Asp186=) n.747A= | |
| 4 | g.24800078A>C | CA356640072 | SOD3 | c.557A>C (p.Asp186Ala) n.747A>C | |
| 4 | g.24800078A>G | CA356640074 | SOD3 | c.557A>G (p.Asp186Gly) n.747A>G | gnomAD v4 |
| 4 | g.24800078A>T | CA356640076 | SOD3 | c.557A>T (p.Asp186Val) n.747A>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800078_24800079delinsAC | CA1445033078 | SOD3 | c.557_558delinsAC (p.Asp186=) n.747_748delinsAC | |
| 4 | g.24800079C>A | CA356640078 | SOD3 | c.558C>A (p.Asp186Glu) n.748C>A | |
| 4 | g.24800079C= | CA1445033080 | SOD3 | c.558C= (p.Asp186=) n.748C= | |
| 4 | g.24800079C>G | CA356640080 | SOD3 | c.558C>G (p.Asp186Glu) n.748C>G | |
| 4 | g.24800079C>T | CA438902110 | SOD3 | c.558C>T (p.Asp186=) n.748C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800080del | CA793265300 | SOD3 | c.559del (p.Leu187TrpfsTer?) n.749del | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800080C>A | CA2876299 | SOD3 | c.559C>A (p.Leu187Met) n.749C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24800080C= | CA1445033082 | SOD3 | c.559C= (p.Leu187=) n.749C= | |
| 4 | g.24800080C>G | CA356640081 | SOD3 | c.559C>G (p.Leu187Val) n.749C>G | |
| 4 | g.24800080C>T | CA438902111 | SOD3 | c.559C>T (p.Leu187=) n.749C>T | |
| 4 | g.24800081T>A | CA356640085 | SOD3 | c.560T>A (p.Leu187Gln) n.750T>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800081T>C | CA356640087 | SOD3 | c.560T>C (p.Leu187Pro) n.750T>C | gnomAD v4 |
| 4 | g.24800081T>G | CA356640088 | SOD3 | c.560T>G (p.Leu187Arg) n.750T>G | |
| 4 | g.24800081T= | CA1445033086 | SOD3 | c.560T= (p.Leu187=) n.750T= | |
| 4 | g.24800082G>A | CA438902112 | SOD3 | c.561G>A (p.Leu187=) n.751G>A | gnomAD v4 |
| 4 | g.24800082G>C | CA438902114 | SOD3 | c.561G>C (p.Leu187=) n.751G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24800082G= | CA1445033087 | SOD3 | c.561G= (p.Leu187=) n.751G= | |
| 4 | g.24800082G>T | CA438902113 | SOD3 | c.561G>T (p.Leu187=) n.751G>T | gnomAD v4 |
| 4 | g.24800084del | CA2670208906 | SOD3 | c.563del (p.Gly188AlafsTer?) n.753del | gnomAD v4 |
| 4 | g.24800083G>A | CA356640090 | SOD3 | c.562G>A (p.Gly188Ser) n.752G>A | gnomAD v4 |
| 4 | g.24800083G>C | CA356640092 | SOD3 | c.562G>C (p.Gly188Arg) n.752G>C | |
| 4 | g.24800083G>T | CA356640094 | SOD3 | c.562G>T (p.Gly188Cys) n.752G>T | |
| 4 | g.24800084G>A | CA356640101 | SOD3 | c.563G>A (p.Gly188Asp) n.753G>A | |
| 4 | g.24800084G>C | CA356640099 | SOD3 | c.563G>C (p.Gly188Ala) n.753G>C | |
| 4 | g.24800084G>T | CA356640098 | SOD3 | c.563G>T (p.Gly188Val) n.753G>T | gnomAD v4 |
| 4 | g.24800085C>A | CA438902116 | SOD3 | c.564C>A (p.Gly188=) n.754C>A | gnomAD v4 |
| 4 | g.24800085C>G | CA438902117 | SOD3 | c.564C>G (p.Gly188=) n.754C>G | |
| 4 | g.24800085C>T | CA438902118 | SOD3 | c.564C>T (p.Gly188=) n.754C>T | gnomAD v4 |
| 4 | g.24800086C>A | CA356640103 | SOD3 | c.565C>A (p.Arg189Ser) n.755C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800086C= | CA1445033090 | SOD3 | c.565C= (p.Arg189=) n.755C= | |
| 4 | g.24800086C>G | CA356640105 | SOD3 | c.565C>G (p.Arg189Gly) n.755C>G | gnomAD v4 |
| 4 | g.24800086C>T | CA356640104 | SOD3 | c.565C>T (p.Arg189Cys) n.755C>T | gnomAD v4 |
| 4 | g.24800087G>A | CA356640108 | SOD3 | c.566G>A (p.Arg189His) n.756G>A | dbSNP gnomAD v4 |
| 4 | g.24800087G>C | CA356640111 | SOD3 | c.566G>C (p.Arg189Pro) n.756G>C | |
| 4 | g.24800087G= | CA1445033092 | SOD3 | c.566G= (p.Arg189=) n.756G= | |
| 4 | g.24800087G>T | CA2876300 | SOD3 | c.566G>T (p.Arg189Leu) n.756G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800088C>A | CA438902119 | SOD3 | c.567C>A (p.Arg189=) n.757C>A | gnomAD v4 |
| 4 | g.24800088C= | CA1445033095 | SOD3 | c.567C= (p.Arg189=) n.757C= | |
| 4 | g.24800088C>G | CA438902120 | SOD3 | c.567C>G (p.Arg189=) n.757C>G | |
| 4 | g.24800088C>T | CA438902121 | SOD3 | c.567C>T (p.Arg189=) n.757C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24800089G>A | CA356640114 | SOD3 | c.568G>A (p.Gly190Ser) n.758G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24800089G>C | CA356640116 | SOD3 | c.568G>C (p.Gly190Arg) n.758G>C | |
| 4 | g.24800089G= | CA1445033098 | SOD3 | c.568G= (p.Gly190=) n.758G= | |
| 4 | g.24800089G>T | CA356640121 | SOD3 | c.568G>T (p.Gly190Cys) n.758G>T | gnomAD v4 |
| 4 | g.24800090del | CA2760767575 | SOD3 | c.569del (p.Gly190AlafsTer?) n.759del | |
| 4 | g.24800090G>A | CA356640123 | SOD3 | c.569G>A (p.Gly190Asp) n.759G>A | gnomAD v4 |
| 4 | g.24800090G>C | CA356640125 | SOD3 | c.569G>C (p.Gly190Ala) n.759G>C | |
| 4 | g.24800090G>T | CA356640126 | SOD3 | c.569G>T (p.Gly190Val) n.759G>T | gnomAD v4 |