Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
8 | g.18400589C= | CA1768219053 | NAT2 | c.586C= (p.Pro196=) c.196C= (p.Pro66=) | |
8 | g.18400589C>G | CA370636210 | NAT2 | c.586C>G (p.Pro196Ala) c.196C>G (p.Pro66Ala) | dbSNP gnomAD v4 |
8 | g.18400589C>T | CA370636209 | NAT2 | c.586C>T (p.Pro196Ser) c.196C>T (p.Pro66Ser) | gnomAD v4 |
8 | g.18400590C>A | CA370636211 | NAT2 | c.587C>A (p.Pro196His) c.197C>A (p.Pro66His) | |
8 | g.18400590C= | CA1768219054 | NAT2 | c.587C= (p.Pro196=) c.197C= (p.Pro66=) | |
8 | g.18400590C>G | CA4651651 | NAT2 | c.587C>G (p.Pro196Arg) c.197C>G (p.Pro66Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18400590C>T | CA370636212 | NAT2 | c.587C>T (p.Pro196Leu) c.197C>T (p.Pro66Leu) | |
8 | g.18400591T>A | CA459881273 | NAT2 | c.588T>A (p.Pro196=) c.198T>A (p.Pro66=) | |
8 | g.18400591T>C | CA459881274 | NAT2 | c.588T>C (p.Pro196=) c.198T>C (p.Pro66=) | |
8 | g.18400591T>G | CA459881275 | NAT2 | c.588T>G (p.Pro196=) c.198T>G (p.Pro66=) | gnomAD v4 |
8 | g.18400592C>A | CA173519931 | NAT2 | c.589C>A (p.Arg197=) c.199C>A (p.Arg67=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400592C= | CA1768219055 | NAT2 | c.589C= (p.Arg197=) c.199C= (p.Arg67=) | |
8 | g.18400592C>G | CA370636213 | NAT2 | c.589C>G (p.Arg197Gly) c.199C>G (p.Arg67Gly) | |
8 | g.18400592C>T | CA4651652 | NAT2 | c.589C>T (p.Arg197Ter) c.199C>T (p.Arg67Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400593G>A | CA114447 | NAT2 | c.590G>A (p.Arg197Gln) c.200G>A (p.Arg67Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400593G>C | CA370636214 | NAT2 | c.590G>C (p.Arg197Pro) c.200G>C (p.Arg67Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18400593G= | CA1768219056 | NAT2 | c.590G= (p.Arg197=) c.200G= (p.Arg67=) |