Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
22 | g.42128885G>T | CA411773981 | CYP2D6 | c.412C>A (p.Leu138Ile) c.565C>A (p.Leu189Ile) c.232C>A (p.Leu78Ile) c.499C>A (p.Leu167Ile) n.1289C>A c.421C>A (p.Leu141Ile) | gnomAD v4 |
22 | g.42128886G>A | CA514697118 | CYP2D6 | c.411C>T (p.Ser137=) c.564C>T (p.Ser188=) c.231C>T (p.Ser77=) c.498C>T (p.Ser166=) n.1288C>T c.420C>T (p.Ser140=) | |
22 | g.42128886G>C | CA514697120 | CYP2D6 | c.411C>G (p.Ser137=) c.564C>G (p.Ser188=) c.231C>G (p.Ser77=) c.498C>G (p.Ser166=) n.1288C>G c.420C>G (p.Ser140=) | |
22 | g.42128886G>T | CA514697122 | CYP2D6 | c.411C>A (p.Ser137=) c.564C>A (p.Ser188=) c.231C>A (p.Ser77=) c.498C>A (p.Ser166=) n.1288C>A c.420C>A (p.Ser140=) | dbSNP gnomAD v4 |
22 | g.42128887G>A | CA411773982 | CYP2D6 | c.410C>T (p.Ser137Phe) c.563C>T (p.Ser188Phe) c.230C>T (p.Ser77Phe) c.497C>T (p.Ser166Phe) n.1287C>T c.419C>T (p.Ser140Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42128887G>C | CA411773983 | CYP2D6 | c.410C>G (p.Ser137Cys) c.563C>G (p.Ser188Cys) c.230C>G (p.Ser77Cys) c.497C>G (p.Ser166Cys) n.1287C>G c.419C>G (p.Ser140Cys) | |
22 | g.42128887G= | CA2406579550 | CYP2D6 | c.410C= (p.Ser137=) c.563C= (p.Ser188=) c.230C= (p.Ser77=) c.497C= (p.Ser166=) n.1287C= c.419C= (p.Ser140=) | |
22 | g.42128887G>T | CA411773984 | CYP2D6 | c.410C>A (p.Ser137Tyr) c.563C>A (p.Ser188Tyr) c.230C>A (p.Ser77Tyr) c.497C>A (p.Ser166Tyr) n.1287C>A c.419C>A (p.Ser140Tyr) | dbSNP gnomAD v4 |
22 | g.42128888A= | CA2406579551 | CYP2D6 | c.409T= (p.Ser137=) c.562T= (p.Ser188=) c.229T= (p.Ser77=) c.496T= (p.Ser166=) n.1286T= c.418T= (p.Ser140=) | |
22 | g.42128888A>C | CA411773985 | CYP2D6 | c.409T>G (p.Ser137Ala) c.562T>G (p.Ser188Ala) c.229T>G (p.Ser77Ala) c.496T>G (p.Ser166Ala) n.1286T>G c.418T>G (p.Ser140Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128888A>G | CA10265036 | CYP2D6 | c.409T>C (p.Ser137Pro) c.562T>C (p.Ser188Pro) c.229T>C (p.Ser77Pro) c.496T>C (p.Ser166Pro) n.1286T>C c.418T>C (p.Ser140Pro) | dbSNP ExAC gnomAD v2 |
22 | g.42128888A>T | CA411773986 | CYP2D6 | c.409T>A (p.Ser137Thr) c.562T>A (p.Ser188Thr) c.229T>A (p.Ser77Thr) c.496T>A (p.Ser166Thr) n.1286T>A c.418T>A (p.Ser140Thr) | dbSNP gnomAD v4 |
22 | g.42128889G>A | CA514697138 | CYP2D6 | c.408C>T (p.Ala136=) c.561C>T (p.Ala187=) c.228C>T (p.Ala76=) c.495C>T (p.Ala165=) n.1285C>T c.417C>T (p.Ala139=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42128889G>C | CA514697140 | CYP2D6 | c.408C>G (p.Ala136=) c.561C>G (p.Ala187=) c.228C>G (p.Ala76=) c.495C>G (p.Ala165=) n.1285C>G c.417C>G (p.Ala139=) | gnomAD v4 |
22 | g.42128889G= | CA2406579552 | CYP2D6 | c.408C= (p.Ala136=) c.561C= (p.Ala187=) c.228C= (p.Ala76=) c.495C= (p.Ala165=) n.1285C= c.417C= (p.Ala139=) | |
22 | g.42128889G>T | CA514697136 | CYP2D6 | c.408C>A (p.Ala136=) c.561C>A (p.Ala187=) c.228C>A (p.Ala76=) c.495C>A (p.Ala165=) n.1285C>A c.417C>A (p.Ala139=) | |
22 | g.42128890G>A | CA411773989 | CYP2D6 | c.407C>T (p.Ala136Val) c.560C>T (p.Ala187Val) c.227C>T (p.Ala76Val) c.494C>T (p.Ala165Val) n.1284C>T c.416C>T (p.Ala139Val) | |
22 | g.42128890G>C | CA411773987 | CYP2D6 | c.407C>G (p.Ala136Gly) c.560C>G (p.Ala187Gly) c.227C>G (p.Ala76Gly) c.494C>G (p.Ala165Gly) n.1284C>G c.416C>G (p.Ala139Gly) | |
22 | g.42128890G>T | CA411773988 | CYP2D6 | c.407C>A (p.Ala136Asp) c.560C>A (p.Ala187Asp) c.227C>A (p.Ala76Asp) c.494C>A (p.Ala165Asp) n.1284C>A c.416C>A (p.Ala139Asp) | dbSNP gnomAD v4 |
22 | g.42128891C>A | CA411773990 | CYP2D6 | c.406G>T (p.Ala136Ser) c.559G>T (p.Ala187Ser) c.226G>T (p.Ala76Ser) c.493G>T (p.Ala165Ser) n.1283G>T c.415G>T (p.Ala139Ser) | gnomAD v4 |
22 | g.42128891C= | CA2406579553 | CYP2D6 | c.406G= (p.Ala136=) c.559G= (p.Ala187=) c.226G= (p.Ala76=) c.493G= (p.Ala165=) n.1283G= c.415G= (p.Ala139=) | |
22 | g.42128891C>G | CA411773991 | CYP2D6 | c.406G>C (p.Ala136Pro) c.559G>C (p.Ala187Pro) c.226G>C (p.Ala76Pro) c.493G>C (p.Ala165Pro) n.1283G>C c.415G>C (p.Ala139Pro) | dbSNP gnomAD v4 |
22 | g.42128891C>T | CA411773992 | CYP2D6 | c.406G>A (p.Ala136Thr) c.559G>A (p.Ala187Thr) c.226G>A (p.Ala76Thr) c.493G>A (p.Ala165Thr) n.1283G>A c.415G>A (p.Ala139Thr) | ClinVar dbSNP gnomAD v4 |