| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.18400568dup | CA2579103947 | NAT2 | c.565dup (p.Ile189AsnfsTer7) c.175dup (p.Ile59AsnfsTer7) | |
| 8 | g.18400568del | CA580502445 | NAT2 | c.565del (p.Ile189TyrfsTer17) c.175del (p.Ile59TyrfsTer17) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400566A>C | CA370636160 | NAT2 | c.563A>C (p.Lys188Thr) c.173A>C (p.Lys58Thr) | |
| 8 | g.18400566A>G | CA370636161 | NAT2 | c.563A>G (p.Lys188Arg) c.173A>G (p.Lys58Arg) | |
| 8 | g.18400566A>T | CA370636162 | NAT2 | c.563A>T (p.Lys188Ile) c.173A>T (p.Lys58Ile) | |
| 8 | g.18400567A>C | CA370636163 | NAT2 | c.564A>C (p.Lys188Asn) c.174A>C (p.Lys58Asn) | |
| 8 | g.18400567A>G | CA459881205 | NAT2 | c.564A>G (p.Lys188=) c.174A>G (p.Lys58=) | gnomAD v4 |
| 8 | g.18400567A>T | CA370636164 | NAT2 | c.564A>T (p.Lys188Asn) c.174A>T (p.Lys58Asn) | |
| 8 | g.18400568A= | CA1768219041 | NAT2 | c.565A= (p.Ile189=) c.175A= (p.Ile59=) | |
| 8 | g.18400568A>C | CA370636165 | NAT2 | c.565A>C (p.Ile189Leu) c.175A>C (p.Ile59Leu) | dbSNP |
| 8 | g.18400568A>G | CA370636166 | NAT2 | c.565A>G (p.Ile189Val) c.175A>G (p.Ile59Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400568A>T | CA370636167 | NAT2 | c.565A>T (p.Ile189Leu) c.175A>T (p.Ile59Leu) | gnomAD v4 |
| 8 | g.18400568_18400574delinsATATACT | CA1768219040 | NAT2 | c.565_571delinsATATACT (p.Ile189=) c.175_181delinsATATACT (p.Ile59=) | |
| 8 | g.18400569T>A | CA370636169 | NAT2 | c.566T>A (p.Ile189Lys) c.176T>A (p.Ile59Lys) | |
| 8 | g.18400569T>C | CA4651641 | NAT2 | c.566T>C (p.Ile189Thr) c.176T>C (p.Ile59Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400569T>G | CA370636168 | NAT2 | c.566T>G (p.Ile189Arg) c.176T>G (p.Ile59Arg) | |
| 8 | g.18400569T= | CA1768219042 | NAT2 | c.566T= (p.Ile189=) c.176T= (p.Ile59=) | |
| 8 | g.18400572_18400577del | CA4651640 | NAT2 | c.569_574del (p.Tyr190_Leu191del) c.179_184del (p.Tyr60_Leu61del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400570A= | CA1768219043 | NAT2 | c.567A= (p.Ile189=) c.177A= (p.Ile59=) | |
| 8 | g.18400570A>C | CA459881210 | NAT2 | c.567A>C (p.Ile189=) c.177A>C (p.Ile59=) | |
| 8 | g.18400570A>G | CA4651642 | NAT2 | c.567A>G (p.Ile189Met) c.177A>G (p.Ile59Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400570A>T | CA459881209 | NAT2 | c.567A>T (p.Ile189=) c.177A>T (p.Ile59=) | |
| 8 | g.18400571T>A | CA370636170 | NAT2 | c.568T>A (p.Tyr190Asn) c.178T>A (p.Tyr60Asn) | |
| 8 | g.18400571T>C | CA370636171 | NAT2 | c.568T>C (p.Tyr190His) c.178T>C (p.Tyr60His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400571T>G | CA370636172 | NAT2 | c.568T>G (p.Tyr190Asp) c.178T>G (p.Tyr60Asp) | |
| 8 | g.18400571T= | CA1768219044 | NAT2 | c.568T= (p.Tyr190=) c.178T= (p.Tyr60=) | |
| 8 | g.18400572A= | CA1768219045 | NAT2 | c.569A= (p.Tyr190=) c.179A= (p.Tyr60=) | |
| 8 | g.18400572A>C | CA370636173 | NAT2 | c.569A>C (p.Tyr190Ser) c.179A>C (p.Tyr60Ser) | |
| 8 | g.18400572A>G | CA4651643 | NAT2 | c.569A>G (p.Tyr190Cys) c.179A>G (p.Tyr60Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400572A>T | CA370636174 | NAT2 | c.569A>T (p.Tyr190Phe) c.179A>T (p.Tyr60Phe) | |
| 8 | g.18400573C>A | CA370636175 | NAT2 | c.570C>A (p.Tyr190Ter) c.180C>A (p.Tyr60Ter) | |
| 8 | g.18400573C= | CA1768219046 | NAT2 | c.570C= (p.Tyr190=) c.180C= (p.Tyr60=) | |
| 8 | g.18400573C>G | CA370636176 | NAT2 | c.570C>G (p.Tyr190Ter) c.180C>G (p.Tyr60Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400573C>T | CA4651644 | NAT2 | c.570C>T (p.Tyr190=) c.180C>T (p.Tyr60=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400574T>A | CA370636177 | NAT2 | c.571T>A (p.Leu191Ile) c.181T>A (p.Leu61Ile) | |
| 8 | g.18400574T>C | CA459881265 | NAT2 | c.571T>C (p.Leu191=) c.181T>C (p.Leu61=) | gnomAD v4 |
| 8 | g.18400574T>G | CA370636178 | NAT2 | c.571T>G (p.Leu191Val) c.181T>G (p.Leu61Val) | |
| 8 | g.18400575T>A | CA370636179 | NAT2 | c.572T>A (p.Leu191Ter) c.182T>A (p.Leu61Ter) | |
| 8 | g.18400575T>C | CA370636181 | NAT2 | c.572T>C (p.Leu191Ser) c.182T>C (p.Leu61Ser) | |
| 8 | g.18400575T>G | CA370636180 | NAT2 | c.572T>G (p.Leu191Ter) c.182T>G (p.Leu61Ter) | |
| 8 | g.18400576A>C | CA370636182 | NAT2 | c.573A>C (p.Leu191Phe) c.183A>C (p.Leu61Phe) | dbSNP gnomAD v4 |
| 8 | g.18400576A>G | CA459881266 | NAT2 | c.573A>G (p.Leu191=) c.183A>G (p.Leu61=) | |
| 8 | g.18400576A>T | CA370636183 | NAT2 | c.573A>T (p.Leu191Phe) c.183A>T (p.Leu61Phe) | |
| 8 | g.18400577T>A | CA370636184 | NAT2 | c.574T>A (p.Phe192Ile) c.184T>A (p.Phe62Ile) | |
| 8 | g.18400577T>C | CA370636185 | NAT2 | c.574T>C (p.Phe192Leu) c.184T>C (p.Phe62Leu) | |
| 8 | g.18400577T>G | CA370636186 | NAT2 | c.574T>G (p.Phe192Val) c.184T>G (p.Phe62Val) | |
| 8 | g.18400578T>A | CA370636187 | NAT2 | c.575T>A (p.Phe192Tyr) c.185T>A (p.Phe62Tyr) | |
| 8 | g.18400578T>C | CA370636188 | NAT2 | c.575T>C (p.Phe192Ser) c.185T>C (p.Phe62Ser) | |
| 8 | g.18400578T>G | CA370636189 | NAT2 | c.575T>G (p.Phe192Cys) c.185T>G (p.Phe62Cys) | gnomAD v4 |
| 8 | g.18400579T>A | CA370636190 | NAT2 | c.576T>A (p.Phe192Leu) c.186T>A (p.Phe62Leu) |