Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.159692740C>A | CA452985880 | SOD2 | c.147G>T (p.Leu49=) c.9G>T (p.Leu3=) c.216G>T (p.Leu72=) | |
6 | g.159692740C= | CA1676708810 | SOD2 | c.147G= (p.Leu49=) c.9G= (p.Leu3=) c.216G= (p.Leu72=) | |
6 | g.159692740C>G | CA452985879 | SOD2 | c.147G>C (p.Leu49=) c.9G>C (p.Leu3=) c.216G>C (p.Leu72=) | dbSNP gnomAD v2 |
6 | g.159692740C>T | CA452985878 | SOD2 | c.147G>A (p.Leu49=) c.9G>A (p.Leu3=) c.216G>A (p.Leu72=) | dbSNP gnomAD v4 |
6 | g.159692741A>C | CA366296185 | SOD2 | c.146T>G (p.Leu49Arg) c.8T>G (p.Leu3Arg) c.215T>G (p.Leu72Arg) | COSMIC |
6 | g.159692741A>G | CA366296189 | SOD2 | c.146T>C (p.Leu49Pro) c.8T>C (p.Leu3Pro) c.215T>C (p.Leu72Pro) | dbSNP |
6 | g.159692741A>T | CA366296187 | SOD2 | c.146T>A (p.Leu49Gln) c.8T>A (p.Leu3Gln) c.215T>A (p.Leu72Gln) | dbSNP |
6 | g.159692742G>A | CA4078394 | SOD2 | c.145C>T (p.Leu49=) c.7C>T (p.Leu3=) c.214C>T (p.Leu72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692742G>C | CA366296194 | SOD2 | c.145C>G (p.Leu49Val) c.7C>G (p.Leu3Val) c.214C>G (p.Leu72Val) | |
6 | g.159692742G= | CA1676708811 | SOD2 | c.145C= (p.Leu49=) c.7C= (p.Leu3=) c.214C= (p.Leu72=) | |
6 | g.159692742G>T | CA366296192 | SOD2 | c.145C>A (p.Leu49Met) c.7C>A (p.Leu3Met) c.214C>A (p.Leu72Met) | dbSNP gnomAD v2 |
6 | g.159692743C>A | CA366296196 | SOD2 | c.144G>T (p.Gln48His) c.6G>T (p.Gln2His) c.213G>T (p.Gln71His) | dbSNP gnomAD v2 |
6 | g.159692743C= | CA1676708812 | SOD2 | c.144G= (p.Gln48=) c.6G= (p.Gln2=) c.213G= (p.Gln71=) | |
6 | g.159692743C>G | CA366296197 | SOD2 | c.144G>C (p.Gln48His) c.6G>C (p.Gln2His) c.213G>C (p.Gln71His) | |
6 | g.159692743C>T | CA452985884 | SOD2 | c.144G>A (p.Gln48=) c.6G>A (p.Gln2=) c.213G>A (p.Gln71=) | |
6 | g.159692744T>A | CA366296200 | SOD2 | c.143A>T (p.Gln48Leu) c.5A>T (p.Gln2Leu) c.212A>T (p.Gln71Leu) | |
6 | g.159692744T>C | CA366296201 | SOD2 | c.143A>G (p.Gln48Arg) c.5A>G (p.Gln2Arg) c.212A>G (p.Gln71Arg) | |
6 | g.159692744T>G | CA366296202 | SOD2 | c.143A>C (p.Gln48Pro) c.5A>C (p.Gln2Pro) c.212A>C (p.Gln71Pro) | |
6 | g.159692745G>A | CA366296205 | SOD2 | c.142C>T (p.Gln48Ter) c.4C>T (p.Gln2Ter) c.211C>T (p.Gln71Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692745G>C | CA366296207 | SOD2 | c.142C>G (p.Gln48Glu) c.4C>G (p.Gln2Glu) c.211C>G (p.Gln71Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692745G= | CA1676708813 | SOD2 | c.142C= (p.Gln48=) c.4C= (p.Gln2=) c.211C= (p.Gln71=) | |
6 | g.159692745G>T | CA366296208 | SOD2 | c.142C>A (p.Gln48Lys) c.4C>A (p.Gln2Lys) c.211C>A (p.Gln71Lys) | dbSNP |
6 | g.159692746C>A | CA366296211 | SOD2 | c.141G>T (p.Met47Ile) c.3G>T (p.Met1Ile) c.210G>T (p.Met70Ile) | |
6 | g.159692746C>G | CA366296213 | SOD2 | c.141G>C (p.Met47Ile) c.3G>C (p.Met1Ile) c.210G>C (p.Met70Ile) | |
6 | g.159692746C>T | CA366296215 | SOD2 | c.141G>A (p.Met47Ile) c.3G>A (p.Met1Ile) c.210G>A (p.Met70Ile) | |
6 | g.159692747A= | CA1676708814 | SOD2 | c.140T= (p.Met47=) c.2T= (p.Met1=) c.209T= (p.Met70=) | |
6 | g.159692747A>C | CA4078395 | SOD2 | c.140T>G (p.Met47Arg) c.2T>G (p.Met1Arg) c.209T>G (p.Met70Arg) | dbSNP ExAC gnomAD v2 |
6 | g.159692747A>G | CA366296219 | SOD2 | c.140T>C (p.Met47Thr) c.2T>C (p.Met1Thr) c.209T>C (p.Met70Thr) | dbSNP |
6 | g.159692747A>T | CA366296217 | SOD2 | c.140T>A (p.Met47Lys) c.2T>A (p.Met1Lys) c.209T>A (p.Met70Lys) | |
6 | g.159692748T>A | CA366296222 | SOD2 | c.139A>T (p.Met47Leu) c.1A>T (p.Met1Leu) c.208A>T (p.Met70Leu) | |
6 | g.159692748T>C | CA366296224 | SOD2 | c.139A>G (p.Met47Val) c.1A>G (p.Met1Val) c.208A>G (p.Met70Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692748T>G | CA366296226 | SOD2 | c.139A>C (p.Met47Leu) c.1A>C (p.Met1Leu) c.208A>C (p.Met70Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692748T= | CA1676708815 | SOD2 | c.139A= (p.Met47=) c.1A= (p.Met1=) c.208A= (p.Met70=) | |
6 | g.159692749G>A | CA452863550 | SOD2 | c.138C>T (p.Ile46=) c.-1C>T (n.-1C>T) c.207C>T (p.Ile69=) | COSMIC |
6 | g.159692749G>C | CA366296227 | SOD2 | c.138C>G (p.Ile46Met) c.-1C>G (n.-1C>G) c.207C>G (p.Ile69Met) | |
6 | g.159692749G>T | CA452863551 | SOD2 | c.138C>A (p.Ile46=) c.-1C>A (n.-1C>A) c.207C>A (p.Ile69=) | |
6 | g.159692750A= | CA1676708816 | SOD2 | c.137T= (p.Ile46=) c.-2T= (n.-2T=) c.206T= (p.Ile69=) | |
6 | g.159692750A>C | CA366296229 | SOD2 | c.137T>G (p.Ile46Ser) c.-2T>G (n.-2T>G) c.206T>G (p.Ile69Ser) | |
6 | g.159692750A>G | CA151086764 | SOD2 | c.137T>C (p.Ile46Thr) c.-2T>C (n.-2T>C) c.206T>C (p.Ile69Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692750A>T | CA366296231 | SOD2 | c.137T>A (p.Ile46Asn) c.-2T>A (n.-2T>A) c.206T>A (p.Ile69Asn) | dbSNP gnomAD v4 |
6 | g.159692751T>A | CA366296234 | SOD2 | c.136A>T (p.Ile46Phe) c.-3A>T (n.-3A>T) c.205A>T (p.Ile69Phe) | |
6 | g.159692751T>C | CA366296236 | SOD2 | c.136A>G (p.Ile46Val) c.-3A>G (n.-3A>G) c.205A>G (p.Ile69Val) | |
6 | g.159692751T>G | CA366296237 | SOD2 | c.136A>C (p.Ile46Leu) c.-3A>C (n.-3A>C) c.205A>C (p.Ile69Leu) | |
6 | g.159692751_159692752insTT | CA2553661738 | SOD2 | c.136_137insAA (p.Ile46LysfsTer15) c.-3_-2insAA (n.-3_-2insAA) c.205_206insAA (p.Ile69LysfsTer15) | |
6 | g.159692752_159692753dup | CA2549270916 | SOD2 | c.135_136dup (p.Ile46ArgfsTer15) c.-4_-3dup (n.-4_-3dup) c.204_205dup (p.Ile69ArgfsTer15) | |
6 | g.159692752_159692753del | CA1096477350 | SOD2 | c.135_136del (p.Gln45HisfsTer?) c.-4_-3del (n.-4_-3del) c.204_205del (p.Gln68HisfsTer?) | gnomAD v3 gnomAD v4 |
6 | g.159692752C>A | CA366296239 | SOD2 | c.135G>T (p.Gln45His) c.-4G>T (n.-4G>T) c.204G>T (p.Gln68His) | |
6 | g.159692752C= | CA1676708817 | SOD2 | c.135G= (p.Gln45=) c.-4G= (n.-4G=) c.204G= (p.Gln68=) | |
6 | g.159692752C>G | CA366296241 | SOD2 | c.135G>C (p.Gln45His) c.-4G>C (n.-4G>C) c.204G>C (p.Gln68His) | dbSNP |
6 | g.159692752C>T | CA452863552 | SOD2 | c.135G>A (p.Gln45=) c.-4G>A (n.-4G>A) c.204G>A (p.Gln68=) | dbSNP |