| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 8 | g.18400584T>G | CA370636201 | NAT2 | c.581T>G (p.Leu194Arg) c.191T>G (p.Leu64Arg) | |
| 8 | g.18400584T= | CA1768219051 | NAT2 | c.581T= (p.Leu194=) c.191T= (p.Leu64=) | |
| 8 | g.18400585T>A | CA459881270 | NAT2 | c.582T>A (p.Leu194=) c.192T>A (p.Leu64=) | |
| 8 | g.18400585T>C | CA459881271 | NAT2 | c.582T>C (p.Leu194=) c.192T>C (p.Leu64=) | |
| 8 | g.18400585T>G | CA459881269 | NAT2 | c.582T>G (p.Leu194=) c.192T>G (p.Leu64=) | |
| 8 | g.18400586G>A | CA370636203 | NAT2 | c.583G>A (p.Glu195Lys) c.193G>A (p.Glu65Lys) | |
| 8 | g.18400586G>C | CA4651649 | NAT2 | c.583G>C (p.Glu195Gln) c.193G>C (p.Glu65Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400586G= | CA1768219052 | NAT2 | c.583G= (p.Glu195=) c.193G= (p.Glu65=) | |
| 8 | g.18400586G>T | CA370636202 | NAT2 | c.583G>T (p.Glu195Ter) c.193G>T (p.Glu65Ter) | gnomAD v3 gnomAD v4 |
| 8 | g.18400587A>C | CA370636204 | NAT2 | c.584A>C (p.Glu195Ala) c.194A>C (p.Glu65Ala) | gnomAD v4 |
| 8 | g.18400587A>G | CA370636205 | NAT2 | c.584A>G (p.Glu195Gly) c.194A>G (p.Glu65Gly) | |
| 8 | g.18400587A>T | CA370636206 | NAT2 | c.584A>T (p.Glu195Val) c.194A>T (p.Glu65Val) | |
| 8 | g.18400588A>C | CA370636207 | NAT2 | c.585A>C (p.Glu195Asp) c.195A>C (p.Glu65Asp) | |
| 8 | g.18400588A>G | CA459881272 | NAT2 | c.585A>G (p.Glu195=) c.195A>G (p.Glu65=) | |
| 8 | g.18400588A>T | CA370636208 | NAT2 | c.585A>T (p.Glu195Asp) c.195A>T (p.Glu65Asp) | |
| 8 | g.18400589C>A | CA4651650 | NAT2 | c.586C>A (p.Pro196Thr) c.196C>A (p.Pro66Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |