| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42128873G>A | CA10265027 | CYP2D6 | c.424C>T (p.Arg142Cys) c.577C>T (p.Arg193Cys) c.244C>T (p.Arg82Cys) c.511C>T (p.Arg171Cys) n.1301C>T c.433C>T (p.Arg145Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128873G>C | CA411773960 | CYP2D6 | c.424C>G (p.Arg142Gly) c.577C>G (p.Arg193Gly) c.244C>G (p.Arg82Gly) c.511C>G (p.Arg171Gly) n.1301C>G c.433C>G (p.Arg145Gly) | gnomAD v4 |
| 22 | g.42128873G= | CA2406579540 | CYP2D6 | c.424C= (p.Arg142=) c.577C= (p.Arg193=) c.244C= (p.Arg82=) c.511C= (p.Arg171=) n.1301C= c.433C= (p.Arg145=) | |
| 22 | g.42128873G>T | CA411773961 | CYP2D6 | c.424C>A (p.Arg142Ser) c.577C>A (p.Arg193Ser) c.244C>A (p.Arg82Ser) c.511C>A (p.Arg171Ser) n.1301C>A c.433C>A (p.Arg145Ser) | gnomAD v4 |
| 22 | g.42128874C>A | CA514697048 | CYP2D6 | c.423G>T (p.Gly141=) c.576G>T (p.Gly192=) c.243G>T (p.Gly81=) c.510G>T (p.Gly170=) n.1300G>T c.432G>T (p.Gly144=) | dbSNP |
| 22 | g.42128874C= | CA2406579541 | CYP2D6 | c.423G= (p.Gly141=) c.576G= (p.Gly192=) c.243G= (p.Gly81=) c.510G= (p.Gly170=) n.1300G= c.432G= (p.Gly144=) | |
| 22 | g.42128874C>G | CA514697050 | CYP2D6 | c.423G>C (p.Gly141=) c.576G>C (p.Gly192=) c.243G>C (p.Gly81=) c.510G>C (p.Gly170=) n.1300G>C c.432G>C (p.Gly144=) | |
| 22 | g.42128874C>T | CA10265028 | CYP2D6 | c.423G>A (p.Gly141=) c.576G>A (p.Gly192=) c.243G>A (p.Gly81=) c.510G>A (p.Gly170=) n.1300G>A c.432G>A (p.Gly144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128875C>A | CA411773964 | CYP2D6 | c.422G>T (p.Gly141Val) c.575G>T (p.Gly192Val) c.242G>T (p.Gly81Val) c.509G>T (p.Gly170Val) n.1299G>T c.431G>T (p.Gly144Val) | dbSNP |
| 22 | g.42128875C>G | CA411773963 | CYP2D6 | c.422G>C (p.Gly141Ala) c.575G>C (p.Gly192Ala) c.242G>C (p.Gly81Ala) c.509G>C (p.Gly170Ala) n.1299G>C c.431G>C (p.Gly144Ala) | dbSNP |
| 22 | g.42128875C>T | CA411773962 | CYP2D6 | c.422G>A (p.Gly141Glu) c.575G>A (p.Gly192Glu) c.242G>A (p.Gly81Glu) c.509G>A (p.Gly170Glu) n.1299G>A c.431G>A (p.Gly144Glu) | dbSNP |
| 22 | g.42128876C>A | CA411773965 | CYP2D6 | c.421G>T (p.Gly141Trp) c.574G>T (p.Gly192Trp) c.241G>T (p.Gly81Trp) c.508G>T (p.Gly170Trp) n.1298G>T c.430G>T (p.Gly144Trp) | dbSNP gnomAD v4 |
| 22 | g.42128876C= | CA2406579542 | CYP2D6 | c.421G= (p.Gly141=) c.574G= (p.Gly192=) c.241G= (p.Gly81=) c.508G= (p.Gly170=) n.1298G= c.430G= (p.Gly144=) | |
| 22 | g.42128876C>G | CA10265030 | CYP2D6 | c.421G>C (p.Gly141Arg) c.574G>C (p.Gly192Arg) c.241G>C (p.Gly81Arg) c.508G>C (p.Gly170Arg) n.1298G>C c.430G>C (p.Gly144Arg) | dbSNP ExAC gnomAD v2 |
| 22 | g.42128876C>T | CA10265029 | CYP2D6 | c.421G>A (p.Gly141Arg) c.574G>A (p.Gly192Arg) c.241G>A (p.Gly81Arg) c.508G>A (p.Gly170Arg) n.1298G>A c.430G>A (p.Gly144Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128877G>A | CA10265031 | CYP2D6 | c.420C>T (p.Cys140=) c.573C>T (p.Cys191=) c.240C>T (p.Cys80=) c.507C>T (p.Cys169=) n.1297C>T c.429C>T (p.Cys143=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128877G>C | CA411773966 | CYP2D6 | c.420C>G (p.Cys140Trp) c.573C>G (p.Cys191Trp) c.240C>G (p.Cys80Trp) c.507C>G (p.Cys169Trp) n.1297C>G c.429C>G (p.Cys143Trp) | dbSNP |
| 22 | g.42128877G= | CA2406579543 | CYP2D6 | c.420C= (p.Cys140=) c.573C= (p.Cys191=) c.240C= (p.Cys80=) c.507C= (p.Cys169=) n.1297C= c.429C= (p.Cys143=) | |
| 22 | g.42128877G>T | CA411773967 | CYP2D6 | c.420C>A (p.Cys140Ter) c.573C>A (p.Cys191Ter) c.240C>A (p.Cys80Ter) c.507C>A (p.Cys169Ter) n.1297C>A c.429C>A (p.Cys143Ter) | gnomAD v4 |
| 22 | g.42128878C>A | CA411773969 | CYP2D6 | c.419G>T (p.Cys140Phe) c.572G>T (p.Cys191Phe) c.239G>T (p.Cys80Phe) c.506G>T (p.Cys169Phe) n.1296G>T c.428G>T (p.Cys143Phe) | dbSNP gnomAD v4 |
| 22 | g.42128878C= | CA2406579544 | CYP2D6 | c.419G= (p.Cys140=) c.572G= (p.Cys191=) c.239G= (p.Cys80=) c.506G= (p.Cys169=) n.1296G= c.428G= (p.Cys143=) | |
| 22 | g.42128878C>G | CA411773968 | CYP2D6 | c.419G>C (p.Cys140Ser) c.572G>C (p.Cys191Ser) c.239G>C (p.Cys80Ser) c.506G>C (p.Cys169Ser) n.1296G>C c.428G>C (p.Cys143Ser) | |
| 22 | g.42128878C>T | CA10265032 | CYP2D6 | c.419G>A (p.Cys140Tyr) c.572G>A (p.Cys191Tyr) c.239G>A (p.Cys80Tyr) c.506G>A (p.Cys169Tyr) n.1296G>A c.428G>A (p.Cys143Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128879A>C | CA411773970 | CYP2D6 | c.418T>G (p.Cys140Gly) c.571T>G (p.Cys191Gly) c.238T>G (p.Cys80Gly) c.505T>G (p.Cys169Gly) n.1295T>G c.427T>G (p.Cys143Gly) | dbSNP |
| 22 | g.42128879A>G | CA411773972 | CYP2D6 | c.418T>C (p.Cys140Arg) c.571T>C (p.Cys191Arg) c.238T>C (p.Cys80Arg) c.505T>C (p.Cys169Arg) n.1295T>C c.427T>C (p.Cys143Arg) | dbSNP gnomAD v4 |
| 22 | g.42128879A>T | CA411773971 | CYP2D6 | c.418T>A (p.Cys140Ser) c.571T>A (p.Cys191Ser) c.238T>A (p.Cys80Ser) c.505T>A (p.Cys169Ser) n.1295T>A c.427T>A (p.Cys143Ser) | dbSNP |
| 22 | g.42128880G>A | CA514697079 | CYP2D6 | c.417C>T (p.Thr139=) c.570C>T (p.Thr190=) c.237C>T (p.Thr79=) c.504C>T (p.Thr168=) n.1294C>T c.426C>T (p.Thr142=) | dbSNP gnomAD v4 |
| 22 | g.42128880G>C | CA514697081 | CYP2D6 | c.417C>G (p.Thr139=) c.570C>G (p.Thr190=) c.237C>G (p.Thr79=) c.504C>G (p.Thr168=) n.1294C>G c.426C>G (p.Thr142=) | |
| 22 | g.42128880G>T | CA514697083 | CYP2D6 | c.417C>A (p.Thr139=) c.570C>A (p.Thr190=) c.237C>A (p.Thr79=) c.504C>A (p.Thr168=) n.1294C>A c.426C>A (p.Thr142=) | |
| 22 | g.42128881_42128883del | CA2657033678 | CYP2D6 | c.415_417del (p.Thr139del) c.568_570del (p.Thr190del) c.235_237del (p.Thr79del) c.502_504del (p.Thr168del) n.1292_1294del c.424_426del (p.Thr142del) | gnomAD v4 |
| 22 | g.42128881G>A | CA411773973 | CYP2D6 | c.416C>T (p.Thr139Ile) c.569C>T (p.Thr190Ile) c.236C>T (p.Thr79Ile) c.503C>T (p.Thr168Ile) n.1293C>T c.425C>T (p.Thr142Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128881G>C | CA411773974 | CYP2D6 | c.416C>G (p.Thr139Ser) c.569C>G (p.Thr190Ser) c.236C>G (p.Thr79Ser) c.503C>G (p.Thr168Ser) n.1293C>G c.425C>G (p.Thr142Ser) | gnomAD v4 |
| 22 | g.42128881G= | CA2406579545 | CYP2D6 | c.416C= (p.Thr139=) c.569C= (p.Thr190=) c.236C= (p.Thr79=) c.503C= (p.Thr168=) n.1293C= c.425C= (p.Thr142=) | |
| 22 | g.42128881G>T | CA10265033 | CYP2D6 | c.416C>A (p.Thr139Asn) c.569C>A (p.Thr190Asn) c.236C>A (p.Thr79Asn) c.503C>A (p.Thr168Asn) n.1293C>A c.425C>A (p.Thr142Asn) | dbSNP ExAC gnomAD v4 |
| 22 | g.42128882T>A | CA411773975 | CYP2D6 | c.415A>T (p.Thr139Ser) c.568A>T (p.Thr190Ser) c.235A>T (p.Thr79Ser) c.502A>T (p.Thr168Ser) n.1292A>T c.424A>T (p.Thr142Ser) | dbSNP |
| 22 | g.42128882T>C | CA10265035 | CYP2D6 | c.415A>G (p.Thr139Ala) c.568A>G (p.Thr190Ala) c.235A>G (p.Thr79Ala) c.502A>G (p.Thr168Ala) n.1292A>G c.424A>G (p.Thr142Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128882T>G | CA411773976 | CYP2D6 | c.415A>C (p.Thr139Pro) c.568A>C (p.Thr190Pro) c.235A>C (p.Thr79Pro) c.502A>C (p.Thr168Pro) n.1292A>C c.424A>C (p.Thr142Pro) | dbSNP |
| 22 | g.42128882T= | CA2406579547 | CYP2D6 | c.415A= (p.Thr139=) c.568A= (p.Thr190=) c.235A= (p.Thr79=) c.502A= (p.Thr168=) n.1292A= c.424A= (p.Thr142=) | |
| 22 | g.42128882_42128886delinsTGAGG | CA2406579546 | CYP2D6 | c.411_415delinsCCTCA (p.Ser137=) c.564_568delinsCCTCA (p.Ser188=) c.231_235delinsCCTCA (p.Ser77=) c.498_502delinsCCTCA (p.Ser166=) n.1288_1292delinsCCTCA c.420_424delinsCCTCA (p.Ser140=) | |
| 22 | g.42128883G>A | CA514697099 | CYP2D6 | c.414C>T (p.Leu138=) c.567C>T (p.Leu189=) c.234C>T (p.Leu78=) c.501C>T (p.Leu167=) n.1291C>T c.423C>T (p.Leu141=) | dbSNP COSMIC COSMIC |
| 22 | g.42128883G>C | CA514697101 | CYP2D6 | c.414C>G (p.Leu138=) c.567C>G (p.Leu189=) c.234C>G (p.Leu78=) c.501C>G (p.Leu167=) n.1291C>G c.423C>G (p.Leu141=) | |
| 22 | g.42128883G>T | CA514697104 | CYP2D6 | c.414C>A (p.Leu138=) c.567C>A (p.Leu189=) c.234C>A (p.Leu78=) c.501C>A (p.Leu167=) n.1291C>A c.423C>A (p.Leu141=) | dbSNP gnomAD v4 |
| 22 | g.42128887_42128890del | CA10265034 | CYP2D6 | c.411_414del (p.Leu138ProfsTer19) c.564_567del (p.Leu189ProfsTer19) c.231_234del (p.Leu78ProfsTer19) c.498_501del (p.Leu167ProfsTer19) n.1288_1291del c.420_423del (p.Leu141ProfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42128884A= | CA2406579548 | CYP2D6 | c.413T= (p.Leu138=) c.566T= (p.Leu189=) c.233T= (p.Leu78=) c.500T= (p.Leu167=) n.1290T= c.422T= (p.Leu141=) | |
| 22 | g.42128884A>C | CA411773979 | CYP2D6 | c.413T>G (p.Leu138Arg) c.566T>G (p.Leu189Arg) c.233T>G (p.Leu78Arg) c.500T>G (p.Leu167Arg) n.1290T>G c.422T>G (p.Leu141Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128884A>G | CA411773977 | CYP2D6 | c.413T>C (p.Leu138Pro) c.566T>C (p.Leu189Pro) c.233T>C (p.Leu78Pro) c.500T>C (p.Leu167Pro) n.1290T>C c.422T>C (p.Leu141Pro) | dbSNP |
| 22 | g.42128884A>T | CA411773978 | CYP2D6 | c.413T>A (p.Leu138His) c.566T>A (p.Leu189His) c.233T>A (p.Leu78His) c.500T>A (p.Leu167His) n.1290T>A c.422T>A (p.Leu141His) | dbSNP |
| 22 | g.42128885G>A | CA324672249 | CYP2D6 | c.412C>T (p.Leu138Phe) c.565C>T (p.Leu189Phe) c.232C>T (p.Leu78Phe) c.499C>T (p.Leu167Phe) n.1289C>T c.421C>T (p.Leu141Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128885G>C | CA411773980 | CYP2D6 | c.412C>G (p.Leu138Val) c.565C>G (p.Leu189Val) c.232C>G (p.Leu78Val) c.499C>G (p.Leu167Val) n.1289C>G c.421C>G (p.Leu141Val) | |
| 22 | g.42128885G= | CA2406579549 | CYP2D6 | c.412C= (p.Leu138=) c.565C= (p.Leu189=) c.232C= (p.Leu78=) c.499C= (p.Leu167=) n.1289C= c.421C= (p.Leu141=) |