Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
4 | g.24799906G>A | CA356639384 | SOD3 | c.385G>A (p.Gly129Arg) n.575G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799906G>C | CA2876269 | SOD3 | c.385G>C (p.Gly129Arg) n.575G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799906G= | CA1445032803 | SOD3 | c.385G= (p.Gly129=) n.575G= | |
4 | g.24799906G>T | CA356639383 | SOD3 | c.385G>T (p.Gly129Trp) n.575G>T | dbSNP gnomAD v4 |
4 | g.24799908del | CA2670208897 | SOD3 | c.387del (p.His131ThrfsTer?) n.577del | gnomAD v4 |
4 | g.24799907G>A | CA356639385 | SOD3 | c.386G>A (p.Gly129Glu) n.576G>A | |
4 | g.24799907G>C | CA356639386 | SOD3 | c.386G>C (p.Gly129Ala) n.576G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24799907G= | CA1445032808 | SOD3 | c.386G= (p.Gly129=) n.576G= | |
4 | g.24799907G>T | CA356639387 | SOD3 | c.386G>T (p.Gly129Val) n.576G>T | gnomAD v4 |
4 | g.24799908G>A | CA438901883 | SOD3 | c.387G>A (p.Gly129=) n.577G>A | gnomAD v4 |
4 | g.24799908G>C | CA438901880 | SOD3 | c.387G>C (p.Gly129=) n.577G>C | |
4 | g.24799908G>T | CA438901882 | SOD3 | c.387G>T (p.Gly129=) n.577G>T | gnomAD v4 |
4 | g.24799909C>A | CA356639388 | SOD3 | c.388C>A (p.Pro130Thr) n.578C>A | gnomAD v4 |
4 | g.24799909C>G | CA356639389 | SOD3 | c.388C>G (p.Pro130Ala) n.578C>G | |
4 | g.24799909C>T | CA356639390 | SOD3 | c.388C>T (p.Pro130Ser) n.578C>T | gnomAD v4 |
4 | g.24799912del | CA2670208898 | SOD3 | c.391del (p.His131ThrfsTer?) n.581del | gnomAD v4 |
4 | g.24799910C>A | CA356639391 | SOD3 | c.389C>A (p.Pro130His) n.579C>A | dbSNP gnomAD v2 |
4 | g.24799910C= | CA1445032810 | SOD3 | c.389C= (p.Pro130=) n.579C= | |
4 | g.24799910C>G | CA356639392 | SOD3 | c.389C>G (p.Pro130Arg) n.579C>G | |
4 | g.24799910C>T | CA356639393 | SOD3 | c.389C>T (p.Pro130Leu) n.579C>T | gnomAD v4 |
4 | g.24799911C>A | CA438901886 | SOD3 | c.390C>A (p.Pro130=) n.580C>A | dbSNP gnomAD v4 |
4 | g.24799911C= | CA1445032814 | SOD3 | c.390C= (p.Pro130=) n.580C= | |
4 | g.24799911C>G | CA438901888 | SOD3 | c.390C>G (p.Pro130=) n.580C>G | gnomAD v4 |
4 | g.24799911C>T | CA438901889 | SOD3 | c.390C>T (p.Pro130=) n.580C>T | gnomAD v4 |
4 | g.24799911_24799935delinsCCACTACAACCCGCTGGCCGTGCCG | CA1445032812 | SOD3 | c.390_414delinsCCACTACAACCCGCTGGCCGTGCCG (p.Pro130=) n.580_604delinsCCACTACAACCCGCTGGCCGTGCCG | |
4 | g.24799912C>A | CA356639396 | SOD3 | c.391C>A (p.His131Asn) n.581C>A | gnomAD v4 |
4 | g.24799912C= | CA1445032817 | SOD3 | c.391C= (p.His131=) n.581C= | |
4 | g.24799912C>G | CA356639395 | SOD3 | c.391C>G (p.His131Asp) n.581C>G | |
4 | g.24799912C>T | CA356639394 | SOD3 | c.391C>T (p.His131Tyr) n.581C>T | |
4 | g.24799915_24799938del | CA2876270 | SOD3 | c.394_417del (p.Tyr132_His139del) n.584_607del | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799913A>C | CA356639397 | SOD3 | c.392A>C (p.His131Pro) n.582A>C | |
4 | g.24799913A>G | CA356639398 | SOD3 | c.392A>G (p.His131Arg) n.582A>G | gnomAD v4 |
4 | g.24799913A>T | CA356639399 | SOD3 | c.392A>T (p.His131Leu) n.582A>T | gnomAD v4 |
4 | g.24799913dup | CA1445032822 | SOD3 | c.392dup (p.His131GlnfsTer?) n.582dup | dbSNP |
4 | g.24799914C>A | CA356639400 | SOD3 | c.393C>A (p.His131Gln) n.583C>A | |
4 | g.24799914C= | CA1445032824 | SOD3 | c.393C= (p.His131=) n.583C= | |
4 | g.24799914C>G | CA2876271 | SOD3 | c.393C>G (p.His131Gln) n.583C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799914C>T | CA438901897 | SOD3 | c.393C>T (p.His131=) n.583C>T | gnomAD v4 |
4 | g.24799915T>A | CA356639401 | SOD3 | c.394T>A (p.Tyr132Asn) n.584T>A | |
4 | g.24799915T>C | CA2876272 | SOD3 | c.394T>C (p.Tyr132His) n.584T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24799915T>G | CA356639402 | SOD3 | c.394T>G (p.Tyr132Asp) n.584T>G | |
4 | g.24799915T= | CA1445032828 | SOD3 | c.394T= (p.Tyr132=) n.584T= | |
4 | g.24799916A>C | CA356639403 | SOD3 | c.395A>C (p.Tyr132Ser) n.585A>C | |
4 | g.24799916A>G | CA356639404 | SOD3 | c.395A>G (p.Tyr132Cys) n.585A>G | |
4 | g.24799916A>T | CA356639405 | SOD3 | c.395A>T (p.Tyr132Phe) n.585A>T | |
4 | g.24799917C>A | CA356639406 | SOD3 | c.396C>A (p.Tyr132Ter) n.586C>A | gnomAD v4 |
4 | g.24799917C= | CA1445032830 | SOD3 | c.396C= (p.Tyr132=) n.586C= | |
4 | g.24799917C>G | CA356639407 | SOD3 | c.396C>G (p.Tyr132Ter) n.586C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799917C>T | CA438901904 | SOD3 | c.396C>T (p.Tyr132=) n.586C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799918A>C | CA356639409 | SOD3 | c.397A>C (p.Asn133His) n.587A>C | |
4 | g.24799918A>G | CA356639410 | SOD3 | c.397A>G (p.Asn133Asp) n.587A>G | |
4 | g.24799918A>T | CA356639408 | SOD3 | c.397A>T (p.Asn133Tyr) n.587A>T | |
4 | g.24799919A>C | CA356639411 | SOD3 | c.398A>C (p.Asn133Thr) n.588A>C | gnomAD v4 |
4 | g.24799919A>G | CA356639413 | SOD3 | c.398A>G (p.Asn133Ser) n.588A>G | gnomAD v4 |
4 | g.24799919A>T | CA356639412 | SOD3 | c.398A>T (p.Asn133Ile) n.588A>T | |
4 | g.24799920C>A | CA356639414 | SOD3 | c.399C>A (p.Asn133Lys) n.589C>A | gnomAD v4 |
4 | g.24799920C= | CA1445032832 | SOD3 | c.399C= (p.Asn133=) n.589C= | |
4 | g.24799920C>G | CA356639415 | SOD3 | c.399C>G (p.Asn133Lys) n.589C>G | |
4 | g.24799920C>T | CA2876273 | SOD3 | c.399C>T (p.Asn133=) n.589C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24799921C>A | CA356639416 | SOD3 | c.400C>A (p.Pro134Thr) n.590C>A | |
4 | g.24799921C>G | CA356639417 | SOD3 | c.400C>G (p.Pro134Ala) n.590C>G | |
4 | g.24799921C>T | CA356639418 | SOD3 | c.400C>T (p.Pro134Ser) n.590C>T | |
4 | g.24799922C>A | CA356639421 | SOD3 | c.401C>A (p.Pro134Gln) n.591C>A | gnomAD v4 |
4 | g.24799922C= | CA1445032836 | SOD3 | c.401C= (p.Pro134=) n.591C= | |
4 | g.24799922C>G | CA356639419 | SOD3 | c.401C>G (p.Pro134Arg) n.591C>G | |
4 | g.24799922C>T | CA356639420 | SOD3 | c.401C>T (p.Pro134Leu) n.591C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799923G>A | CA438901914 | SOD3 | c.402G>A (p.Pro134=) n.592G>A | gnomAD v4 |
4 | g.24799923G>C | CA438901915 | SOD3 | c.402G>C (p.Pro134=) n.592G>C | gnomAD v4 |
4 | g.24799923G>T | CA438901912 | SOD3 | c.402G>T (p.Pro134=) n.592G>T | gnomAD v4 |
4 | g.24799924C>A | CA356639422 | SOD3 | c.403C>A (p.Leu135Met) n.593C>A | gnomAD v4 |
4 | g.24799924C= | CA1445032839 | SOD3 | c.403C= (p.Leu135=) n.593C= | |
4 | g.24799924C>G | CA356639423 | SOD3 | c.403C>G (p.Leu135Val) n.593C>G | |
4 | g.24799924C>T | CA438901916 | SOD3 | c.403C>T (p.Leu135=) n.593C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24799925T>A | CA356639424 | SOD3 | c.404T>A (p.Leu135Gln) n.594T>A | |
4 | g.24799925T>C | CA356639425 | SOD3 | c.404T>C (p.Leu135Pro) n.594T>C | |
4 | g.24799925T>G | CA356639426 | SOD3 | c.404T>G (p.Leu135Arg) n.594T>G | |
4 | g.24799926G>A | CA94297232 | SOD3 | c.405G>A (p.Leu135=) n.595G>A | dbSNP gnomAD v4 |
4 | g.24799926G>C | CA438901919 | SOD3 | c.405G>C (p.Leu135=) n.595G>C | |
4 | g.24799926G= | CA1445032843 | SOD3 | c.405G= (p.Leu135=) n.595G= | |
4 | g.24799926G>T | CA438901920 | SOD3 | c.405G>T (p.Leu135=) n.595G>T | gnomAD v4 |
4 | g.24799927G>A | CA356639429 | SOD3 | c.406G>A (p.Ala136Thr) n.596G>A | |
4 | g.24799927G>C | CA356639427 | SOD3 | c.406G>C (p.Ala136Pro) n.596G>C | |
4 | g.24799927G>T | CA356639428 | SOD3 | c.406G>T (p.Ala136Ser) n.596G>T | 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 |