| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.18400568_18400574delinsATATACT | CA1768219040 | NAT2 | c.565_571delinsATATACT (p.Ile189=) c.175_181delinsATATACT (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.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) | |
| 8 | g.18400579T>C | CA459881267 | NAT2 | c.576T>C (p.Phe192=) c.186T>C (p.Phe62=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400579T>G | CA370636191 | NAT2 | c.576T>G (p.Phe192Leu) c.186T>G (p.Phe62Leu) | |
| 8 | g.18400579T= | CA1768219047 | NAT2 | c.576T= (p.Phe192=) c.186T= (p.Phe62=) | |
| 8 | g.18400580A>C | CA370636192 | NAT2 | c.577A>C (p.Thr193Pro) c.187A>C (p.Thr63Pro) | |
| 8 | g.18400580A>G | CA370636193 | NAT2 | c.577A>G (p.Thr193Ala) c.187A>G (p.Thr63Ala) | |
| 8 | g.18400580A>T | CA370636194 | NAT2 | c.577A>T (p.Thr193Ser) c.187A>T (p.Thr63Ser) | |
| 8 | g.18400581C>A | CA370636195 | NAT2 | c.578C>A (p.Thr193Lys) c.188C>A (p.Thr63Lys) | |
| 8 | g.18400581C= | CA1768219048 | NAT2 | c.578C= (p.Thr193=) c.188C= (p.Thr63=) | |
| 8 | g.18400581C>G | CA370636196 | NAT2 | c.578C>G (p.Thr193Arg) c.188C>G (p.Thr63Arg) | gnomAD v4 |
| 8 | g.18400581C>T | CA4651645 | NAT2 | c.578C>T (p.Thr193Met) c.188C>T (p.Thr63Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.18400582G>A | CA4651647 | NAT2 | c.579G>A (p.Thr193=) c.189G>A (p.Thr63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400582G>C | CA459881268 | NAT2 | c.579G>C (p.Thr193=) c.189G>C (p.Thr63=) | |
| 8 | g.18400582G= | CA1768219049 | NAT2 | c.579G= (p.Thr193=) c.189G= (p.Thr63=) | |
| 8 | g.18400582G>T | CA4651646 | NAT2 | c.579G>T (p.Thr193=) c.189G>T (p.Thr63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400583C>A | CA370636197 | NAT2 | c.580C>A (p.Leu194Ile) c.190C>A (p.Leu64Ile) | |
| 8 | g.18400583C= | CA1768219050 | NAT2 | c.580C= (p.Leu194=) c.190C= (p.Leu64=) | |
| 8 | g.18400583C>G | CA4651648 | NAT2 | c.580C>G (p.Leu194Val) c.190C>G (p.Leu64Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400583C>T | CA370636198 | NAT2 | c.580C>T (p.Leu194Phe) c.190C>T (p.Leu64Phe) | gnomAD v4 |
| 8 | g.18400584T>A | CA370636199 | NAT2 | c.581T>A (p.Leu194His) c.191T>A (p.Leu64His) | |
| 8 | g.18400584T>C | CA370636200 | NAT2 | c.581T>C (p.Leu194Pro) c.191T>C (p.Leu64Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |