| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.24799911_24799935delinsCCACTACAACCCGCTGGCCGTGCCG | CA1445032812 | SOD3 | c.390_414delinsCCACTACAACCCGCTGGCCGTGCCG (p.Pro130=) n.580_604delinsCCACTACAACCCGCTGGCCGTGCCG | |
| 4 | g.24799915_24799938del | CA2876270 | SOD3 | c.394_417del (p.Tyr132_His139del) n.584_607del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799928C>A | CA356639430 | SOD3 | c.407C>A (p.Ala136Asp) n.597C>A | gnomAD v4 |
| 4 | g.24799928C>G | CA356639431 | SOD3 | c.407C>G (p.Ala136Gly) n.597C>G | |
| 4 | g.24799928C>T | CA356639432 | SOD3 | c.407C>T (p.Ala136Val) n.597C>T | gnomAD v4 |
| 4 | g.24799929C>A | CA438901922 | SOD3 | c.408C>A (p.Ala136=) n.598C>A | gnomAD v4 |
| 4 | g.24799929C>G | CA438901923 | SOD3 | c.408C>G (p.Ala136=) n.598C>G | |
| 4 | g.24799929C>T | CA438901924 | SOD3 | c.408C>T (p.Ala136=) n.598C>T | gnomAD v4 |
| 4 | g.24799930G>A | CA356639433 | SOD3 | c.409G>A (p.Val137Met) n.599G>A | gnomAD v4 |
| 4 | g.24799930G>C | CA356639434 | SOD3 | c.409G>C (p.Val137Leu) n.599G>C | |
| 4 | g.24799930G>T | CA356639435 | SOD3 | c.409G>T (p.Val137Leu) n.599G>T | gnomAD v4 |
| 4 | g.24799931T>A | CA356639436 | SOD3 | c.410T>A (p.Val137Glu) n.600T>A | |
| 4 | g.24799931T>C | CA356639437 | SOD3 | c.410T>C (p.Val137Ala) n.600T>C | gnomAD v4 |
| 4 | g.24799931T>G | CA356639438 | SOD3 | c.410T>G (p.Val137Gly) n.600T>G | |
| 4 | g.24799932G>A | CA438901928 | SOD3 | c.411G>A (p.Val137=) n.601G>A | gnomAD v4 |
| 4 | g.24799932G>C | CA438901929 | SOD3 | c.411G>C (p.Val137=) n.601G>C | gnomAD v4 |
| 4 | g.24799932G>T | CA438901930 | SOD3 | c.411G>T (p.Val137=) n.601G>T | gnomAD v4 |
| 4 | g.24799934_24799942dup | CA2670208899 | SOD3 | c.413_421dup (p.Pro140_Gln141insProHisPro) n.603_611dup | gnomAD v4 |
| 4 | g.24799933C>A | CA356639439 | SOD3 | c.412C>A (p.Pro138Thr) n.602C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799933C= | CA1445032846 | SOD3 | c.412C= (p.Pro138=) n.602C= | |
| 4 | g.24799933C>G | CA356639440 | SOD3 | c.412C>G (p.Pro138Ala) n.602C>G | |
| 4 | g.24799933C>T | CA356639441 | SOD3 | c.412C>T (p.Pro138Ser) n.602C>T | gnomAD v4 |
| 4 | g.24799934C>A | CA356639442 | SOD3 | c.413C>A (p.Pro138Gln) n.603C>A | gnomAD v4 |
| 4 | g.24799934C= | CA1445032853 | SOD3 | c.413C= (p.Pro138=) n.603C= | |
| 4 | g.24799934C>G | CA356639443 | SOD3 | c.413C>G (p.Pro138Arg) n.603C>G | |
| 4 | g.24799934C>T | CA2876274 | SOD3 | c.413C>T (p.Pro138Leu) n.603C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799935G>A | CA438901935 | SOD3 | c.414G>A (p.Pro138=) n.604G>A | gnomAD v4 |
| 4 | g.24799935G>C | CA438901937 | SOD3 | c.414G>C (p.Pro138=) n.604G>C | |
| 4 | g.24799935G>T | CA438901936 | SOD3 | c.414G>T (p.Pro138=) n.604G>T | gnomAD v4 |
| 4 | g.24799936C>A | CA356639444 | SOD3 | c.415C>A (p.His139Asn) n.605C>A | gnomAD v4 |
| 4 | g.24799936C>G | CA356639445 | SOD3 | c.415C>G (p.His139Asp) n.605C>G | |
| 4 | g.24799936C>T | CA356639446 | SOD3 | c.415C>T (p.His139Tyr) n.605C>T | |
| 4 | g.24799937A>C | CA356639447 | SOD3 | c.416A>C (p.His139Pro) n.606A>C | |
| 4 | g.24799937A>G | CA356639448 | SOD3 | c.416A>G (p.His139Arg) n.606A>G | |
| 4 | g.24799937A>T | CA356639449 | SOD3 | c.416A>T (p.His139Leu) n.606A>T | |
| 4 | g.24799938C>A | CA356639450 | SOD3 | c.417C>A (p.His139Gln) n.607C>A | gnomAD v4 |
| 4 | g.24799938C= | CA1445032857 | SOD3 | c.417C= (p.His139=) n.607C= | |
| 4 | g.24799938C>G | CA356639451 | SOD3 | c.417C>G (p.His139Gln) n.607C>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799938C>T | CA2876275 | SOD3 | c.417C>T (p.His139=) n.607C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799939C>A | CA356639452 | SOD3 | c.418C>A (p.Pro140Thr) n.608C>A | |
| 4 | g.24799939C= | CA1445032859 | SOD3 | c.418C= (p.Pro140=) n.608C= | |
| 4 | g.24799939C>G | CA356639453 | SOD3 | c.418C>G (p.Pro140Ala) n.608C>G | |
| 4 | g.24799939C>T | CA356639454 | SOD3 | c.418C>T (p.Pro140Ser) n.608C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799940C>A | CA356639456 | SOD3 | c.419C>A (p.Pro140Gln) n.609C>A | gnomAD v4 |
| 4 | g.24799940C= | CA1445032863 | SOD3 | c.419C= (p.Pro140=) n.609C= | |
| 4 | g.24799940C>G | CA2876276 | SOD3 | c.419C>G (p.Pro140Arg) n.609C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799940C>T | CA356639455 | SOD3 | c.419C>T (p.Pro140Leu) n.609C>T | gnomAD v4 |
| 4 | g.24799941G>A | CA2876278 | SOD3 | c.420G>A (p.Pro140=) n.610G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799941G>C | CA438901941 | SOD3 | c.420G>C (p.Pro140=) n.610G>C | gnomAD v4 |
| 4 | g.24799941G= | CA1445032865 | SOD3 | c.420G= (p.Pro140=) n.610G= | |
| 4 | g.24799941G>T | CA2876277 | SOD3 | c.420G>T (p.Pro140=) n.610G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.24799942C>A | CA356639457 | SOD3 | c.421C>A (p.Gln141Lys) n.611C>A | dbSNP gnomAD v4 |
| 4 | g.24799942C= | CA1445032868 | SOD3 | c.421C= (p.Gln141=) n.611C= | |
| 4 | g.24799942C>G | CA356639458 | SOD3 | c.421C>G (p.Gln141Glu) n.611C>G | |
| 4 | g.24799942C>T | CA356639459 | SOD3 | c.421C>T (p.Gln141Ter) n.611C>T | |
| 4 | g.24799943A>C | CA356639460 | SOD3 | c.422A>C (p.Gln141Pro) n.612A>C | |
| 4 | g.24799943A>G | CA356639461 | SOD3 | c.422A>G (p.Gln141Arg) n.612A>G | |
| 4 | g.24799943A>T | CA356639462 | SOD3 | c.422A>T (p.Gln141Leu) n.612A>T | |
| 4 | g.24799944G>A | CA438901944 | SOD3 | c.423G>A (p.Gln141=) n.613G>A | gnomAD v4 |
| 4 | g.24799944G>C | CA356639463 | SOD3 | c.423G>C (p.Gln141His) n.613G>C | |
| 4 | g.24799944G>T | CA356639464 | SOD3 | c.423G>T (p.Gln141His) n.613G>T | gnomAD v4 |
| 4 | g.24799945C>A | CA356639467 | SOD3 | c.424C>A (p.His142Asn) n.614C>A | |
| 4 | g.24799945C>G | CA356639466 | SOD3 | c.424C>G (p.His142Asp) n.614C>G | |
| 4 | g.24799945C>T | CA356639465 | SOD3 | c.424C>T (p.His142Tyr) n.614C>T | dbSNP |
| 4 | g.24799946A>C | CA356639468 | SOD3 | c.425A>C (p.His142Pro) n.615A>C | |
| 4 | g.24799946A>G | CA356639469 | SOD3 | c.425A>G (p.His142Arg) n.615A>G | gnomAD v4 |
| 4 | g.24799946A>T | CA356639470 | SOD3 | c.425A>T (p.His142Leu) n.615A>T | |
| 4 | g.24799947C>A | CA356639471 | SOD3 | c.426C>A (p.His142Gln) n.616C>A | |
| 4 | g.24799947C>G | CA356639472 | SOD3 | c.426C>G (p.His142Gln) n.616C>G | gnomAD v4 |
| 4 | g.24799947C>T | CA438901948 | SOD3 | c.426C>T (p.His142=) n.616C>T | gnomAD v4 |
| 4 | g.24799948C>A | CA356639473 | SOD3 | c.427C>A (p.Pro143Thr) n.617C>A | |
| 4 | g.24799948C>G | CA356639474 | SOD3 | c.427C>G (p.Pro143Ala) n.617C>G | |
| 4 | g.24799948C>T | CA356639475 | SOD3 | c.427C>T (p.Pro143Ser) n.617C>T | |
| 4 | g.24799949C>A | CA356639476 | SOD3 | c.428C>A (p.Pro143Gln) n.618C>A | dbSNP gnomAD v4 |
| 4 | g.24799949C= | CA1445032870 | SOD3 | c.428C= (p.Pro143=) n.618C= | |
| 4 | g.24799949C>G | CA356639478 | SOD3 | c.428C>G (p.Pro143Arg) n.618C>G | |
| 4 | g.24799949C>T | CA356639477 | SOD3 | c.428C>T (p.Pro143Leu) n.618C>T | gnomAD v4 |
| 4 | g.24799950G>A | CA2876279 | SOD3 | c.429G>A (p.Pro143=) n.619G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.24799950G>C | CA438901953 | SOD3 | c.429G>C (p.Pro143=) n.619G>C | |
| 4 | g.24799950G= | CA1445032873 | SOD3 | c.429G= (p.Pro143=) n.619G= | |
| 4 | g.24799950G>T | CA438901954 | SOD3 | c.429G>T (p.Pro143=) n.619G>T | gnomAD v4 |
| 4 | g.24799951G>A | CA356639483 | SOD3 | c.430G>A (p.Gly144Ser) n.620G>A | gnomAD v4 |
| 4 | g.24799951G>C | CA356639485 | SOD3 | c.430G>C (p.Gly144Arg) n.620G>C | dbSNP gnomAD v2 |
| 4 | g.24799951G= | CA1445032876 | SOD3 | c.430G= (p.Gly144=) n.620G= | |
| 4 | g.24799951G>T | CA356639487 | SOD3 | c.430G>T (p.Gly144Cys) n.620G>T | gnomAD v4 |
| 4 | g.24799952G>A | CA356639489 | SOD3 | c.431G>A (p.Gly144Asp) n.621G>A | dbSNP |
| 4 | g.24799952G>C | CA356639493 | SOD3 | c.431G>C (p.Gly144Ala) n.621G>C | |
| 4 | g.24799952G= | CA1445032881 | SOD3 | c.431G= (p.Gly144=) n.621G= | |
| 4 | g.24799952G>T | CA356639491 | SOD3 | c.431G>T (p.Gly144Val) n.621G>T | gnomAD v4 |
| 4 | g.24799953C>A | CA438901956 | SOD3 | c.432C>A (p.Gly144=) n.622C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799953C= | CA1445032885 | SOD3 | c.432C= (p.Gly144=) n.622C= | |
| 4 | g.24799953C>G | CA438901957 | SOD3 | c.432C>G (p.Gly144=) n.622C>G | |
| 4 | g.24799953C>T | CA438901958 | SOD3 | c.432C>T (p.Gly144=) n.622C>T | gnomAD v4 |
| 4 | g.24799954G>A | CA356639496 | SOD3 | c.433G>A (p.Asp145Asn) n.623G>A | gnomAD v4 |
| 4 | g.24799954G>C | CA356639498 | SOD3 | c.433G>C (p.Asp145His) n.623G>C | |
| 4 | g.24799954G= | CA1445032887 | SOD3 | c.433G= (p.Asp145=) n.623G= | |
| 4 | g.24799954G>T | CA356639500 | SOD3 | c.433G>T (p.Asp145Tyr) n.623G>T | gnomAD v4 |
| 4 | g.24799955A>C | CA356639502 | SOD3 | c.434A>C (p.Asp145Ala) n.624A>C | |
| 4 | g.24799955A>G | CA356639503 | SOD3 | c.434A>G (p.Asp145Gly) n.624A>G | |
| 4 | g.24799955A>T | CA356639505 | SOD3 | c.434A>T (p.Asp145Val) n.624A>T | |
| 4 | g.24799961_24799969dup | CA1060283340 | SOD3 | c.440_448dup (p.Phe149_Ala150insGlyAsnPhe) n.630_638dup | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799961_24799969del | CA2670208900 | SOD3 | c.440_448del (p.Gly147_Phe149del) n.630_638del | gnomAD v4 |
| 4 | g.24799956C>A | CA356639507 | SOD3 | c.435C>A (p.Asp145Glu) n.625C>A | |
| 4 | g.24799956C= | CA1445032891 | SOD3 | c.435C= (p.Asp145=) n.625C= | |
| 4 | g.24799956C>G | CA356639509 | SOD3 | c.435C>G (p.Asp145Glu) n.625C>G | dbSNP gnomAD v4 |
| 4 | g.24799956C>T | CA438901960 | SOD3 | c.435C>T (p.Asp145=) n.625C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799957T>A | CA356639511 | SOD3 | c.436T>A (p.Phe146Ile) n.626T>A | dbSNP |
| 4 | g.24799957T>C | CA356639513 | SOD3 | c.436T>C (p.Phe146Leu) n.626T>C | gnomAD v4 |
| 4 | g.24799957T>G | CA356639515 | SOD3 | c.436T>G (p.Phe146Val) n.626T>G | |
| 4 | g.24799957T= | CA1445032895 | SOD3 | c.436T= (p.Phe146=) n.626T= | |
| 4 | g.24799958T>A | CA356639519 | SOD3 | c.437T>A (p.Phe146Tyr) n.627T>A | |
| 4 | g.24799958T>C | CA356639521 | SOD3 | c.437T>C (p.Phe146Ser) n.627T>C | |
| 4 | g.24799958T>G | CA356639520 | SOD3 | c.437T>G (p.Phe146Cys) n.627T>G | |
| 4 | g.24799958T= | CA1445032898 | SOD3 | c.437T= (p.Phe146=) n.627T= | |
| 4 | g.24799959C>A | CA356639522 | SOD3 | c.438C>A (p.Phe146Leu) n.628C>A | gnomAD v4 |
| 4 | g.24799959C>G | CA356639523 | SOD3 | c.438C>G (p.Phe146Leu) n.628C>G | |
| 4 | g.24799959C>T | CA438901964 | SOD3 | c.438C>T (p.Phe146=) n.628C>T | gnomAD v4 |
| 4 | g.24799959_24799963dup | CA550665265 | SOD3 | c.438_442dup (p.Asn148ThrfsTer?) n.628_632dup | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799960G>A | CA356639524 | SOD3 | c.439G>A (p.Gly147Ser) n.629G>A | gnomAD v4 |
| 4 | g.24799960G>C | CA356639525 | SOD3 | c.439G>C (p.Gly147Arg) n.629G>C | dbSNP gnomAD v4 |
| 4 | g.24799960G= | CA1445032902 | SOD3 | c.439G= (p.Gly147=) n.629G= | |
| 4 | g.24799960G>T | CA356639526 | SOD3 | c.439G>T (p.Gly147Cys) n.629G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799961G>A | CA356639527 | SOD3 | c.440G>A (p.Gly147Asp) n.630G>A | gnomAD v4 |
| 4 | g.24799961G>C | CA356639529 | SOD3 | c.440G>C (p.Gly147Ala) n.630G>C | |
| 4 | g.24799961G>T | CA356639531 | SOD3 | c.440G>T (p.Gly147Val) n.630G>T | gnomAD v4 |
| 4 | g.24799962del | CA2670208901 | SOD3 | c.441del (p.Asn148ThrfsTer?) n.631del | gnomAD v4 |
| 4 | g.24799962C>A | CA438901968 | SOD3 | c.441C>A (p.Gly147=) n.631C>A | gnomAD v4 |
| 4 | g.24799962C= | CA1445032904 | SOD3 | c.441C= (p.Gly147=) n.631C= | |
| 4 | g.24799962C>G | CA438901969 | SOD3 | c.441C>G (p.Gly147=) n.631C>G | |
| 4 | g.24799962C>T | CA438901970 | SOD3 | c.441C>T (p.Gly147=) n.631C>T | dbSNP gnomAD v4 |
| 4 | g.24799963A>C | CA356639533 | SOD3 | c.442A>C (p.Asn148His) n.632A>C | |
| 4 | g.24799963A>G | CA356639535 | SOD3 | c.442A>G (p.Asn148Asp) n.632A>G | |
| 4 | g.24799963A>T | CA356639536 | SOD3 | c.442A>T (p.Asn148Tyr) n.632A>T | |
| 4 | g.24799964A>C | CA356639541 | SOD3 | c.443A>C (p.Asn148Thr) n.633A>C | |
| 4 | g.24799964A>G | CA356639540 | SOD3 | c.443A>G (p.Asn148Ser) n.633A>G | |
| 4 | g.24799964A>T | CA356639538 | SOD3 | c.443A>T (p.Asn148Ile) n.633A>T | |
| 4 | g.24799965C>A | CA356639543 | SOD3 | c.444C>A (p.Asn148Lys) n.634C>A | |
| 4 | g.24799965C>G | CA356639545 | SOD3 | c.444C>G (p.Asn148Lys) n.634C>G | |
| 4 | g.24799965C>T | CA438901974 | SOD3 | c.444C>T (p.Asn148=) n.634C>T | gnomAD v4 |
| 4 | g.24799966T>A | CA356639548 | SOD3 | c.445T>A (p.Phe149Ile) n.635T>A | |
| 4 | g.24799966T>C | CA356639550 | SOD3 | c.445T>C (p.Phe149Leu) n.635T>C | |
| 4 | g.24799966T>G | CA356639552 | SOD3 | c.445T>G (p.Phe149Val) n.635T>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799966T= | CA1445032909 | SOD3 | c.445T= (p.Phe149=) n.635T= | |
| 4 | g.24799967T>A | CA356639554 | SOD3 | c.446T>A (p.Phe149Tyr) n.636T>A | |
| 4 | g.24799967T>C | CA356639558 | SOD3 | c.446T>C (p.Phe149Ser) n.636T>C | |
| 4 | g.24799967T>G | CA356639561 | SOD3 | c.446T>G (p.Phe149Cys) n.636T>G | |
| 4 | g.24799968C>A | CA356639563 | SOD3 | c.447C>A (p.Phe149Leu) n.637C>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799968C= | CA1445032912 | SOD3 | c.447C= (p.Phe149=) n.637C= | |
| 4 | g.24799968C>G | CA356639565 | SOD3 | c.447C>G (p.Phe149Leu) n.637C>G | gnomAD v4 |
| 4 | g.24799968C>T | CA438901978 | SOD3 | c.447C>T (p.Phe149=) n.637C>T | gnomAD v4 |
| 4 | g.24799969G>A | CA356639568 | SOD3 | c.448G>A (p.Ala150Thr) n.638G>A | gnomAD v4 |
| 4 | g.24799969G>C | CA356639569 | SOD3 | c.448G>C (p.Ala150Pro) n.638G>C | gnomAD v4 |
| 4 | g.24799969G>T | CA356639571 | SOD3 | c.448G>T (p.Ala150Ser) n.638G>T | gnomAD v4 |
| 4 | g.24799970C>A | CA356639575 | SOD3 | c.449C>A (p.Ala150Glu) n.639C>A | gnomAD v4 |
| 4 | g.24799970C= | CA1445032914 | SOD3 | c.449C= (p.Ala150=) n.639C= | |
| 4 | g.24799970C>G | CA356639577 | SOD3 | c.449C>G (p.Ala150Gly) n.639C>G | |
| 4 | g.24799970C>T | CA356639574 | SOD3 | c.449C>T (p.Ala150Val) n.639C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799971G>A | CA438901981 | SOD3 | c.450G>A (p.Ala150=) n.640G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799971G>C | CA438901979 | SOD3 | c.450G>C (p.Ala150=) n.640G>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799971G= | CA1445032917 | SOD3 | c.450G= (p.Ala150=) n.640G= | |
| 4 | g.24799971G>T | CA438901980 | SOD3 | c.450G>T (p.Ala150=) n.640G>T | gnomAD v4 |
| 4 | g.24799972G>A | CA356639582 | SOD3 | c.451G>A (p.Val151Ile) n.641G>A | gnomAD v4 |
| 4 | g.24799972G>C | CA356639580 | SOD3 | c.451G>C (p.Val151Leu) n.641G>C | |
| 4 | g.24799972G= | CA1445032920 | SOD3 | c.451G= (p.Val151=) n.641G= | |
| 4 | g.24799972G>T | CA356639585 | SOD3 | c.451G>T (p.Val151Phe) n.641G>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.24799973T>A | CA356639589 | SOD3 | c.452T>A (p.Val151Asp) n.642T>A | |
| 4 | g.24799973T>C | CA356639592 | SOD3 | c.452T>C (p.Val151Ala) n.642T>C | dbSNP gnomAD v2 |
| 4 | g.24799973T>G | CA356639590 | SOD3 | c.452T>G (p.Val151Gly) n.642T>G | |
| 4 | g.24799973T= | CA1445032922 | SOD3 | c.452T= (p.Val151=) n.642T= | |
| 4 | g.24799974C>A | CA438901983 | SOD3 | c.453C>A (p.Val151=) n.643C>A | gnomAD v4 |
| 4 | g.24799974C>G | CA438901984 | SOD3 | c.453C>G (p.Val151=) n.643C>G | |
| 4 | g.24799974C>T | CA438901985 | SOD3 | c.453C>T (p.Val151=) n.643C>T | gnomAD v4 |
| 4 | g.24799979_24800002dup | CA2559771498 | SOD3 | c.458_481dup (p.Arg160_Ala161insAspGlySerLeuTrpArgTyrArg) n.648_671dup | gnomAD v4 |
| 4 | g.24799975C>A | CA356639595 | SOD3 | c.454C>A (p.Arg152Ser) n.644C>A | gnomAD v4 |
| 4 | g.24799975C>G | CA356639597 | SOD3 | c.454C>G (p.Arg152Gly) n.644C>G | gnomAD v4 |
| 4 | g.24799975C>T | CA356639598 | SOD3 | c.454C>T (p.Arg152Cys) n.644C>T | gnomAD v4 |
| 4 | g.24799976G>A | CA356639600 | SOD3 | c.455G>A (p.Arg152His) n.645G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799976G>C | CA356639607 | SOD3 | c.455G>C (p.Arg152Pro) n.645G>C | gnomAD v4 |
| 4 | g.24799976G= | CA1445032924 | SOD3 | c.455G= (p.Arg152=) n.645G= | |
| 4 | g.24799976G>T | CA356639610 | SOD3 | c.455G>T (p.Arg152Leu) n.645G>T | gnomAD v4 |
| 4 | g.24799977C>A | CA438901987 | SOD3 | c.456C>A (p.Arg152=) n.646C>A | gnomAD v4 |
| 4 | g.24799977C>G | CA438901988 | SOD3 | c.456C>G (p.Arg152=) n.646C>G | |
| 4 | g.24799977C>T | CA438901989 | SOD3 | c.456C>T (p.Arg152=) n.646C>T | gnomAD v4 COSMIC |
| 4 | g.24799978G>A | CA356639612 | SOD3 | c.457G>A (p.Asp153Asn) n.647G>A | |
| 4 | g.24799978G>C | CA356639622 | SOD3 | c.457G>C (p.Asp153His) n.647G>C | |
| 4 | g.24799978G= | CA1445032928 | SOD3 | c.457G= (p.Asp153=) n.647G= | |
| 4 | g.24799978G>T | CA356639624 | SOD3 | c.457G>T (p.Asp153Tyr) n.647G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799979A>C | CA356639638 | SOD3 | c.458A>C (p.Asp153Ala) n.648A>C | |
| 4 | g.24799979A>G | CA356639640 | SOD3 | c.458A>G (p.Asp153Gly) n.648A>G | |
| 4 | g.24799979A>T | CA356639643 | SOD3 | c.458A>T (p.Asp153Val) n.648A>T | |
| 4 | g.24799980C>A | CA356639647 | SOD3 | c.459C>A (p.Asp153Glu) n.649C>A | gnomAD v4 |
| 4 | g.24799980C>G | CA356639645 | SOD3 | c.459C>G (p.Asp153Glu) n.649C>G | |
| 4 | g.24799980C>T | CA438901993 | SOD3 | c.459C>T (p.Asp153=) n.649C>T | |
| 4 | g.24799981G>A | CA356639649 | SOD3 | c.460G>A (p.Gly154Ser) n.650G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.24799981G>C | CA356639651 | SOD3 | c.460G>C (p.Gly154Arg) n.650G>C | gnomAD v4 |
| 4 | g.24799981G= | CA1445032930 | SOD3 | c.460G= (p.Gly154=) n.650G= | |
| 4 | g.24799981G>T | CA356639654 | SOD3 | c.460G>T (p.Gly154Cys) n.650G>T | dbSNP gnomAD v4 |
| 4 | g.24799982G>A | CA356639657 | SOD3 | c.461G>A (p.Gly154Asp) n.651G>A | gnomAD v4 COSMIC |
| 4 | g.24799982G>C | CA94297233 | SOD3 | c.461G>C (p.Gly154Ala) n.651G>C | dbSNP gnomAD v4 |
| 4 | g.24799982G= | CA1445032932 | SOD3 | c.461G= (p.Gly154=) n.651G= | |
| 4 | g.24799982G>T | CA356639661 | SOD3 | c.461G>T (p.Gly154Val) n.651G>T | gnomAD v4 |
| 4 | g.24799983C>A | CA438901997 | SOD3 | c.462C>A (p.Gly154=) n.652C>A | gnomAD v4 |
| 4 | g.24799983C>G | CA438901998 | SOD3 | c.462C>G (p.Gly154=) n.652C>G | |
| 4 | g.24799983C>T | CA438901999 | SOD3 | c.462C>T (p.Gly154=) n.652C>T | gnomAD v4 |
| 4 | g.24799983dup | CA2547031925 | SOD3 | c.462dup (p.Ser155GlnfsTer?) n.652dup | |
| 4 | g.24799984A>C | CA356639664 | SOD3 | c.463A>C (p.Ser155Arg) n.653A>C | |
| 4 | g.24799984A>G | CA356639666 | SOD3 | c.463A>G (p.Ser155Gly) n.653A>G | gnomAD v4 |
| 4 | g.24799984A>T | CA356639667 | SOD3 | c.463A>T (p.Ser155Cys) n.653A>T | |
| 4 | g.24799985G>A | CA356639672 | SOD3 | c.464G>A (p.Ser155Asn) n.654G>A | dbSNP gnomAD v4 |
| 4 | g.24799985G>C | CA356639673 | SOD3 | c.464G>C (p.Ser155Thr) n.654G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.24799985G= | CA1445032935 | SOD3 | c.464G= (p.Ser155=) n.654G= | |
| 4 | g.24799985G>T | CA356639675 | SOD3 | c.464G>T (p.Ser155Ile) n.654G>T | gnomAD v4 |
| 4 | g.24799986C>A | CA356639678 | SOD3 | c.465C>A (p.Ser155Arg) n.655C>A | gnomAD v4 |
| 4 | g.24799986C>G | CA356639676 | SOD3 | c.465C>G (p.Ser155Arg) n.655C>G | |
| 4 | g.24799986C>T | CA438902001 | SOD3 | c.465C>T (p.Ser155=) n.655C>T | gnomAD v4 |
| 4 | g.24799987del | CA2545942101 | SOD3 | c.466del (p.Leu156SerfsTer?) n.656del | |
| 4 | g.24799987C>A | CA356639679 | SOD3 | c.466C>A (p.Leu156Ile) n.656C>A | gnomAD v4 |
| 4 | g.24799987C>G | CA356639680 | SOD3 | c.466C>G (p.Leu156Val) n.656C>G | |
| 4 | g.24799987C>T | CA356639682 | SOD3 | c.466C>T (p.Leu156Phe) n.656C>T | |
| 4 | g.24799988T>A | CA356639684 | SOD3 | c.467T>A (p.Leu156His) n.657T>A | |
| 4 | g.24799988T>C | CA356639685 | SOD3 | c.467T>C (p.Leu156Pro) n.657T>C | gnomAD v4 |
| 4 | g.24799988T>G | CA356639686 | SOD3 | c.467T>G (p.Leu156Arg) n.657T>G | |
| 4 | g.24799989C>A | CA438902006 | SOD3 | c.468C>A (p.Leu156=) n.658C>A | gnomAD v4 |
| 4 | g.24799989C= | CA1445032937 | SOD3 | c.468C= (p.Leu156=) n.658C= | |
| 4 | g.24799989C>G | CA438902007 | SOD3 | c.468C>G (p.Leu156=) n.658C>G | dbSNP gnomAD v4 |
| 4 | g.24799989C>T | CA438902008 | SOD3 | c.468C>T (p.Leu156=) n.658C>T | |
| 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 |