Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.24799807_24799815dup | CA2670208892 | SOD3 | c.286_294dup (p.Ala98_Leu99insPhePheAla) n.476_484dup | 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 |
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 |