Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.24800112G>A | CA438902145 | SOD3 | c.591G>A (p.Glu197=) n.781G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800112G>C | CA356640210 | SOD3 | c.591G>C (p.Glu197Asp) n.781G>C | dbSNP |
4 | g.24800112G= | CA1445033135 | SOD3 | c.591G= (p.Glu197=) n.781G= | |
4 | g.24800112G>T | CA356640212 | SOD3 | c.591G>T (p.Glu197Asp) n.781G>T | gnomAD v4 |
4 | g.24800113A>C | CA356640219 | SOD3 | c.592A>C (p.Asn198His) n.782A>C | |
4 | g.24800113A>G | CA356640217 | SOD3 | c.592A>G (p.Asn198Asp) n.782A>G | gnomAD v4 |
4 | g.24800113A>T | CA356640214 | SOD3 | c.592A>T (p.Asn198Tyr) n.782A>T | |
4 | g.24800114A>C | CA356640223 | SOD3 | c.593A>C (p.Asn198Thr) n.783A>C | dbSNP |
4 | g.24800114A>G | CA356640221 | SOD3 | c.593A>G (p.Asn198Ser) n.783A>G | gnomAD v4 |
4 | g.24800114A>T | CA356640225 | SOD3 | c.593A>T (p.Asn198Ile) n.783A>T | |
4 | g.24800115C>A | CA356640228 | SOD3 | c.594C>A (p.Asn198Lys) n.784C>A | gnomAD v4 |
4 | g.24800115C= | CA1445033137 | SOD3 | c.594C= (p.Asn198=) n.784C= | |
4 | g.24800115C>G | CA356640229 | SOD3 | c.594C>G (p.Asn198Lys) n.784C>G | gnomAD v4 |
4 | g.24800115C>T | CA438902152 | SOD3 | c.594C>T (p.Asn198=) n.784C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800116G>A | CA356640232 | SOD3 | c.595G>A (p.Gly199Arg) n.785G>A | dbSNP gnomAD v4 |
4 | g.24800116G>C | CA356640234 | SOD3 | c.595G>C (p.Gly199Arg) n.785G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800116G= | CA1445033139 | SOD3 | c.595G= (p.Gly199=) n.785G= | |
4 | g.24800116G>T | CA356640235 | SOD3 | c.595G>T (p.Gly199Trp) n.785G>T | gnomAD v4 |
4 | g.24800117G>A | CA356640239 | SOD3 | c.596G>A (p.Gly199Glu) n.786G>A | gnomAD v4 |
4 | g.24800117G>C | CA356640240 | SOD3 | c.596G>C (p.Gly199Ala) n.786G>C | gnomAD v4 |
4 | g.24800117G>T | CA356640242 | SOD3 | c.596G>T (p.Gly199Val) n.786G>T | gnomAD v4 |
4 | g.24800118G>A | CA438902158 | SOD3 | c.597G>A (p.Gly199=) n.787G>A | gnomAD v4 |
4 | g.24800118G>C | CA438902157 | SOD3 | c.597G>C (p.Gly199=) n.787G>C | |
4 | g.24800118G>T | CA438902156 | SOD3 | c.597G>T (p.Gly199=) n.787G>T | gnomAD v4 |
4 | g.24800119A>C | CA356640244 | SOD3 | c.598A>C (p.Asn200His) n.788A>C | gnomAD v4 |
4 | g.24800119A>G | CA356640245 | SOD3 | c.598A>G (p.Asn200Asp) n.788A>G | gnomAD v4 |
4 | g.24800119A>T | CA356640246 | SOD3 | c.598A>T (p.Asn200Tyr) n.788A>T | |
4 | g.24800120A>C | CA356640251 | SOD3 | c.599A>C (p.Asn200Thr) n.789A>C | |
4 | g.24800120A>G | CA356640249 | SOD3 | c.599A>G (p.Asn200Ser) n.789A>G | gnomAD v4 |
4 | g.24800120A>T | CA356640247 | SOD3 | c.599A>T (p.Asn200Ile) n.789A>T | |
4 | g.24800121C>A | CA94297245 | SOD3 | c.600C>A (p.Asn200Lys) n.790C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800121C= | CA1445033142 | SOD3 | c.600C= (p.Asn200=) n.790C= | |
4 | g.24800121C>G | CA356640254 | SOD3 | c.600C>G (p.Asn200Lys) n.790C>G | |
4 | g.24800121C>T | CA438901609 | SOD3 | c.600C>T (p.Asn200=) n.790C>T | dbSNP gnomAD v4 |
4 | g.24800122G>A | CA356640256 | SOD3 | c.601G>A (p.Ala201Thr) n.791G>A | gnomAD v4 |
4 | g.24800122G>C | CA356640258 | SOD3 | c.601G>C (p.Ala201Pro) n.791G>C | gnomAD v4 |
4 | g.24800122G>T | CA356640260 | SOD3 | c.601G>T (p.Ala201Ser) n.791G>T | gnomAD v4 |
4 | g.24800123C>A | CA356640262 | SOD3 | c.602C>A (p.Ala201Glu) n.792C>A | gnomAD v4 |
4 | g.24800123C= | CA1445033145 | SOD3 | c.602C= (p.Ala201=) n.792C= | |
4 | g.24800123C>G | CA356640264 | SOD3 | c.602C>G (p.Ala201Gly) n.792C>G | |
4 | g.24800123C>T | CA356640265 | SOD3 | c.602C>T (p.Ala201Val) n.792C>T | dbSNP gnomAD v4 |
4 | g.24800124G>A | CA2876301 | SOD3 | c.603G>A (p.Ala201=) n.793G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800124G>C | CA438901610 | SOD3 | c.603G>C (p.Ala201=) n.793G>C | |
4 | g.24800124G= | CA1445033147 | SOD3 | c.603G= (p.Ala201=) n.793G= | |
4 | g.24800124G>T | CA438901611 | SOD3 | c.603G>T (p.Ala201=) n.793G>T | gnomAD v4 |
4 | g.24800125G>A | CA356640267 | SOD3 | c.604G>A (p.Gly202Ser) n.794G>A | gnomAD v4 |
4 | g.24800125G>C | CA356640269 | SOD3 | c.604G>C (p.Gly202Arg) n.794G>C | |
4 | g.24800125G>T | CA356640271 | SOD3 | c.604G>T (p.Gly202Cys) n.794G>T | gnomAD v4 |
4 | g.24800126G>A | CA356640275 | SOD3 | c.605G>A (p.Gly202Asp) n.795G>A | gnomAD v4 |
4 | g.24800126G>C | CA356640277 | SOD3 | c.605G>C (p.Gly202Ala) n.795G>C |