Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18222414G>A | CA370445153 | NAT1 | c.367G>A (p.Ala123Thr) c.553G>A (p.Ala185Thr) n.719G>A | gnomAD v4 |
8 | g.18222414G>C | CA370445154 | NAT1 | c.367G>C (p.Ala123Pro) c.553G>C (p.Ala185Pro) n.719G>C | gnomAD v4 |
8 | g.18222414G>T | CA370445155 | NAT1 | c.367G>T (p.Ala123Ser) c.553G>T (p.Ala185Ser) n.719G>T | |
8 | g.18222415C>A | CA370445157 | NAT1 | c.368C>A (p.Ala123Asp) c.554C>A (p.Ala185Asp) n.720C>A | |
8 | g.18222415C= | CA1768101137 | NAT1 | c.368C= (p.Ala123=) c.554C= (p.Ala185=) n.720C= | |
8 | g.18222415C>G | CA370445156 | NAT1 | c.368C>G (p.Ala123Gly) c.554C>G (p.Ala185Gly) n.720C>G | |
8 | g.18222415C>T | CA4651390 | NAT1 | c.368C>T (p.Ala123Val) c.554C>T (p.Ala185Val) n.720C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222416T>A | CA459877733 | NAT1 | c.369T>A (p.Ala123=) c.555T>A (p.Ala185=) n.721T>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222416T>C | CA459877731 | NAT1 | c.369T>C (p.Ala123=) c.555T>C (p.Ala185=) n.721T>C | |
8 | g.18222416T>G | CA459877732 | NAT1 | c.369T>G (p.Ala123=) c.555T>G (p.Ala185=) n.721T>G | |
8 | g.18222416T= | CA1768101138 | NAT1 | c.369T= (p.Ala123=) c.555T= (p.Ala185=) n.721T= | |
8 | g.18222417G>A | CA370445158 | NAT1 | c.370G>A (p.Gly124Arg) c.556G>A (p.Gly186Arg) n.722G>A | |
8 | g.18222417G>C | CA370445159 | NAT1 | c.370G>C (p.Gly124Arg) c.556G>C (p.Gly186Arg) n.722G>C | |
8 | g.18222417G>T | CA370445160 | NAT1 | c.370G>T (p.Gly124Trp) c.556G>T (p.Gly186Trp) n.722G>T | |
8 | g.18222418G>A | CA370445161 | NAT1 | c.371G>A (p.Gly124Glu) c.557G>A (p.Gly186Glu) n.723G>A | |
8 | g.18222418G>C | CA370445162 | NAT1 | c.371G>C (p.Gly124Ala) c.557G>C (p.Gly186Ala) n.723G>C | gnomAD v4 |
8 | g.18222418G>T | CA370445163 | NAT1 | c.371G>T (p.Gly124Val) c.557G>T (p.Gly186Val) n.723G>T | |
8 | g.18222419G>A | CA459877735 | NAT1 | c.372G>A (p.Gly124=) c.558G>A (p.Gly186=) n.724G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222419G>C | CA4651391 | NAT1 | c.372G>C (p.Gly124=) c.558G>C (p.Gly186=) n.724G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222419G= | CA1768101139 | NAT1 | c.372G= (p.Gly124=) c.558G= (p.Gly186=) n.724G= | |
8 | g.18222419G>T | CA459877734 | NAT1 | c.372G>T (p.Gly124=) c.558G>T (p.Gly186=) n.724G>T | |
8 | g.18222420T>A | CA370445164 | NAT1 | c.373T>A (p.Phe125Ile) c.559T>A (p.Phe187Ile) n.725T>A | |
8 | g.18222420T>C | CA370445165 | NAT1 | c.373T>C (p.Phe125Leu) c.559T>C (p.Phe187Leu) n.725T>C | |
8 | g.18222420T>G | CA370445166 | NAT1 | c.373T>G (p.Phe125Val) c.559T>G (p.Phe187Val) n.725T>G | |
8 | g.18222421T>A | CA370445167 | NAT1 | c.374T>A (p.Phe125Tyr) c.560T>A (p.Phe187Tyr) n.726T>A | |
8 | g.18222421T>C | CA370445168 | NAT1 | c.374T>C (p.Phe125Ser) c.560T>C (p.Phe187Ser) n.726T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222421T>G | CA370445169 | NAT1 | c.374T>G (p.Phe125Cys) c.560T>G (p.Phe187Cys) n.726T>G | |
8 | g.18222421T= | CA1768101140 | NAT1 | c.374T= (p.Phe125=) c.560T= (p.Phe187=) n.726T= | |
8 | g.18222422T>A | CA370445171 | NAT1 | c.375T>A (p.Phe125Leu) c.561T>A (p.Phe187Leu) n.727T>A | |
8 | g.18222422T>C | CA459877740 | NAT1 | c.375T>C (p.Phe125=) c.561T>C (p.Phe187=) n.727T>C | gnomAD v4 |
8 | g.18222422T>G | CA370445170 | NAT1 | c.375T>G (p.Phe125Leu) c.561T>G (p.Phe187Leu) n.727T>G | dbSNP |
8 | g.18222422T= | CA1768101141 | NAT1 | c.375T= (p.Phe125=) c.561T= (p.Phe187=) n.727T= | |
8 | g.18222423G>A | CA370445172 | NAT1 | c.376G>A (p.Gly126Arg) c.562G>A (p.Gly188Arg) n.728G>A | |
8 | g.18222423G>C | CA370445173 | NAT1 | c.376G>C (p.Gly126Arg) c.562G>C (p.Gly188Arg) n.728G>C | |
8 | g.18222423G>T | CA370445174 | NAT1 | c.376G>T (p.Gly126Ter) c.562G>T (p.Gly188Ter) n.728G>T | |
8 | g.18222424G>A | CA370445175 | NAT1 | c.377G>A (p.Gly126Glu) c.563G>A (p.Gly188Glu) n.729G>A | |
8 | g.18222424G>C | CA370445176 | NAT1 | c.377G>C (p.Gly126Ala) c.563G>C (p.Gly188Ala) n.729G>C | |
8 | g.18222424G>T | CA370445177 | NAT1 | c.377G>T (p.Gly126Val) c.563G>T (p.Gly188Val) n.729G>T | |
8 | g.18222425A>C | CA459877747 | NAT1 | c.378A>C (p.Gly126=) c.564A>C (p.Gly188=) n.730A>C | |
8 | g.18222425A>G | CA459877745 | NAT1 | c.378A>G (p.Gly126=) c.564A>G (p.Gly188=) n.730A>G | |
8 | g.18222425A>T | CA459877746 | NAT1 | c.378A>T (p.Gly126=) c.564A>T (p.Gly188=) n.730A>T | |
8 | g.18222426C>A | CA370445179 | NAT1 | c.379C>A (p.Arg127Ser) c.565C>A (p.Arg189Ser) n.731C>A | |
8 | g.18222426C= | CA1768101142 | NAT1 | c.379C= (p.Arg127=) c.565C= (p.Arg189=) n.731C= | |
8 | g.18222426C>G | CA370445178 | NAT1 | c.379C>G (p.Arg127Gly) c.565C>G (p.Arg189Gly) n.731C>G | |
8 | g.18222426C>T | CA4651392 | NAT1 | c.379C>T (p.Arg127Cys) c.565C>T (p.Arg189Cys) n.731C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.18222427G>A | CA4651394 | NAT1 | c.380G>A (p.Arg127His) c.566G>A (p.Arg189His) n.732G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222427G>C | CA370445180 | NAT1 | c.380G>C (p.Arg127Pro) c.566G>C (p.Arg189Pro) n.732G>C | |
8 | g.18222427G= | CA1768101143 | NAT1 | c.380G= (p.Arg127=) c.566G= (p.Arg189=) n.732G= | |
8 | g.18222427G>T | CA4651393 | NAT1 | c.380G>T (p.Arg127Leu) c.566G>T (p.Arg189Leu) n.732G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222428C>A | CA459877751 | NAT1 | c.381C>A (p.Arg127=) c.567C>A (p.Arg189=) n.733C>A |