Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42128241_42128242delinsCT | CA2406579037 | CYP2D6 | c.622_623delinsAG (p.Arg208=) c.775_776delinsAG (p.Arg259=) c.442_443delinsAG (p.Arg148=) c.709_710delinsAG (p.Arg237=) n.1499_1500delinsAG c.631_632delinsAG (p.Arg211=) | |
22 | g.42128242del | CA126958 | CYP2D6 | c.622del (p.Arg208GlyfsTer2) c.775del (p.Arg259GlyfsTer2) c.442del (p.Arg148GlyfsTer2) c.709del (p.Arg237GlyfsTer2) n.1499del c.631del (p.Arg211GlyfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.42128242T>A | CA411773285 | CYP2D6 | c.622A>T (p.Arg208Trp) c.775A>T (p.Arg259Trp) c.442A>T (p.Arg148Trp) c.709A>T (p.Arg237Trp) n.1499A>T c.631A>T (p.Arg211Trp) | gnomAD v4 |
22 | g.42128242T>C | CA411773287 | CYP2D6 | c.622A>G (p.Arg208Gly) c.775A>G (p.Arg259Gly) c.442A>G (p.Arg148Gly) c.709A>G (p.Arg237Gly) n.1499A>G c.631A>G (p.Arg211Gly) | |
22 | g.42128242T>G | CA514800295 | CYP2D6 | c.622A>C (p.Arg208=) c.775A>C (p.Arg259=) c.442A>C (p.Arg148=) c.709A>C (p.Arg237=) n.1499A>C c.631A>C (p.Arg211=) | dbSNP |
22 | g.42128242T= | CA2406579038 | CYP2D6 | c.622A= (p.Arg208=) c.775A= (p.Arg259=) c.442A= (p.Arg148=) c.709A= (p.Arg237=) n.1499A= c.631A= (p.Arg211=) | |
22 | g.42128243del | CA411773293 | CYP2D6 | c.621del (p.His207GlnfsTer3) c.774del (p.His258GlnfsTer3) c.441del (p.His147GlnfsTer3) c.708del (p.His236GlnfsTer3) n.1498del c.630del (p.His210GlnfsTer3) | |
22 | g.42128243G>A | CA514800296 | CYP2D6 | c.621C>T (p.His207=) c.774C>T (p.His258=) c.441C>T (p.His147=) c.708C>T (p.His236=) n.1498C>T c.630C>T (p.His210=) | |
22 | g.42128243G>C | CA411773290 | CYP2D6 | c.621C>G (p.His207Gln) c.774C>G (p.His258Gln) c.441C>G (p.His147Gln) c.708C>G (p.His236Gln) n.1498C>G c.630C>G (p.His210Gln) | |
22 | g.42128243G>T | CA411773291 | CYP2D6 | c.621C>A (p.His207Gln) c.774C>A (p.His258Gln) c.441C>A (p.His147Gln) c.708C>A (p.His236Gln) n.1498C>A c.630C>A (p.His210Gln) | |
22 | g.42128244T>A | CA411773294 | CYP2D6 | c.620A>T (p.His207Leu) c.773A>T (p.His258Leu) c.440A>T (p.His147Leu) c.707A>T (p.His236Leu) n.1497A>T c.629A>T (p.His210Leu) | |
22 | g.42128244T>C | CA411773296 | CYP2D6 | c.620A>G (p.His207Arg) c.773A>G (p.His258Arg) c.440A>G (p.His147Arg) c.707A>G (p.His236Arg) n.1497A>G c.629A>G (p.His210Arg) | |
22 | g.42128244T>G | CA411773298 | CYP2D6 | c.620A>C (p.His207Pro) c.773A>C (p.His258Pro) c.440A>C (p.His147Pro) c.707A>C (p.His236Pro) n.1497A>C c.629A>C (p.His210Pro) | |
22 | g.42128244_42128250delinsTGCTCAG | CA2406579039 | CYP2D6 | c.614_620delinsCTGAGCA (p.Thr205=) c.767_773delinsCTGAGCA (p.Thr256=) c.434_440delinsCTGAGCA (p.Thr145=) c.701_707delinsCTGAGCA (p.Thr234=) n.1491_1497delinsCTGAGCA c.623_629delinsCTGAGCA (p.Thr208=) | |
22 | g.42128245G>A | CA411773300 | CYP2D6 | c.619C>T (p.His207Tyr) c.772C>T (p.His258Tyr) c.439C>T (p.His147Tyr) c.706C>T (p.His236Tyr) n.1496C>T c.628C>T (p.His210Tyr) | dbSNP gnomAD v4 |
22 | g.42128245G>C | CA411773304 | CYP2D6 | c.619C>G (p.His207Asp) c.772C>G (p.His258Asp) c.439C>G (p.His147Asp) c.706C>G (p.His236Asp) n.1496C>G c.628C>G (p.His210Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42128245G= | CA2406579040 | CYP2D6 | c.619C= (p.His207=) c.772C= (p.His258=) c.439C= (p.His147=) c.706C= (p.His236=) n.1496C= c.628C= (p.His210=) | |
22 | g.42128245G>T | CA411773302 | CYP2D6 | c.619C>A (p.His207Asn) c.772C>A (p.His258Asn) c.439C>A (p.His147Asn) c.706C>A (p.His236Asn) n.1496C>A c.628C>A (p.His210Asn) | dbSNP |
22 | g.42128245_42128250del | CA639827952 | CYP2D6 | c.614_619del (p.Thr205_His207delinsAsn) c.767_772del (p.Thr256_His258delinsAsn) c.434_439del (p.Thr145_His147delinsAsn) c.701_706del (p.Thr234_His236delinsAsn) n.1491_1496del c.623_628del (p.Thr208_His210delinsAsn) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42128246C>A | CA411773305 | CYP2D6 | c.618G>T (p.Glu206Asp) c.771G>T (p.Glu257Asp) c.438G>T (p.Glu146Asp) c.705G>T (p.Glu235Asp) n.1495G>T c.627G>T (p.Glu209Asp) | |
22 | g.42128246C>G | CA411773306 | CYP2D6 | c.618G>C (p.Glu206Asp) c.771G>C (p.Glu257Asp) c.438G>C (p.Glu146Asp) c.705G>C (p.Glu235Asp) n.1495G>C c.627G>C (p.Glu209Asp) | |
22 | g.42128246C>T | CA514800297 | CYP2D6 | c.618G>A (p.Glu206=) c.771G>A (p.Glu257=) c.438G>A (p.Glu146=) c.705G>A (p.Glu235=) n.1495G>A c.627G>A (p.Glu209=) | gnomAD v4 |
22 | g.42128247T>A | CA411773308 | CYP2D6 | c.617A>T (p.Glu206Val) c.770A>T (p.Glu257Val) c.437A>T (p.Glu146Val) c.704A>T (p.Glu235Val) n.1494A>T c.626A>T (p.Glu209Val) | |
22 | g.42128247T>C | CA411773309 | CYP2D6 | c.617A>G (p.Glu206Gly) c.770A>G (p.Glu257Gly) c.437A>G (p.Glu146Gly) c.704A>G (p.Glu235Gly) n.1494A>G c.626A>G (p.Glu209Gly) | |
22 | g.42128247T>G | CA411773311 | CYP2D6 | c.617A>C (p.Glu206Ala) c.770A>C (p.Glu257Ala) c.437A>C (p.Glu146Ala) c.704A>C (p.Glu235Ala) n.1494A>C c.626A>C (p.Glu209Ala) | |
22 | g.42128248C>A | CA411773316 | CYP2D6 | c.616G>T (p.Glu206Ter) c.769G>T (p.Glu257Ter) c.436G>T (p.Glu146Ter) c.703G>T (p.Glu235Ter) n.1493G>T c.625G>T (p.Glu209Ter) | dbSNP |
22 | g.42128248C= | CA2406579042 | CYP2D6 | c.616G= (p.Glu206=) c.769G= (p.Glu257=) c.436G= (p.Glu146=) c.703G= (p.Glu235=) n.1493G= c.625G= (p.Glu209=) | |
22 | g.42128248C>G | CA10264885 | CYP2D6 | c.616G>C (p.Glu206Gln) c.769G>C (p.Glu257Gln) c.436G>C (p.Glu146Gln) c.703G>C (p.Glu235Gln) n.1493G>C c.625G>C (p.Glu209Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128248C>T | CA411773313 | CYP2D6 | c.616G>A (p.Glu206Lys) c.769G>A (p.Glu257Lys) c.436G>A (p.Glu146Lys) c.703G>A (p.Glu235Lys) n.1493G>A c.625G>A (p.Glu209Lys) | |
22 | g.42128248_42128249del | CA2657032083 | CYP2D6 | c.615_616del (p.Glu206AlafsTer16) c.768_769del (p.Glu257AlafsTer16) c.435_436del (p.Glu146AlafsTer16) c.702_703del (p.Glu235AlafsTer16) n.1492_1493del c.624_625del (p.Glu209AlafsTer16) | gnomAD v4 |
22 | g.42128248_42128252delinsCAGTT | CA2406579041 | CYP2D6 | c.612_616delinsAACTG (p.Leu204=) c.765_769delinsAACTG (p.Leu255=) c.432_436delinsAACTG (p.Leu144=) c.699_703delinsAACTG (p.Leu233=) n.1489_1493delinsAACTG c.621_625delinsAACTG (p.Leu207=) | |
22 | g.42128249A= | CA2406579043 | CYP2D6 | c.615T= (p.Thr205=) c.768T= (p.Thr256=) c.435T= (p.Thr145=) c.702T= (p.Thr234=) n.1492T= c.624T= (p.Thr208=) | |
22 | g.42128249A>C | CA514800298 | CYP2D6 | c.615T>G (p.Thr205=) c.768T>G (p.Thr256=) c.435T>G (p.Thr145=) c.702T>G (p.Thr234=) n.1492T>G c.624T>G (p.Thr208=) | |
22 | g.42128249A>G | CA514800299 | CYP2D6 | c.615T>C (p.Thr205=) c.768T>C (p.Thr256=) c.435T>C (p.Thr145=) c.702T>C (p.Thr234=) n.1492T>C c.624T>C (p.Thr208=) | ClinVar dbSNP gnomAD v4 |
22 | g.42128249A>T | CA514800300 | CYP2D6 | c.615T>A (p.Thr205=) c.768T>A (p.Thr256=) c.435T>A (p.Thr145=) c.702T>A (p.Thr234=) n.1492T>A c.624T>A (p.Thr208=) | |
22 | g.42128251_42128254del | CA10264884 | CYP2D6 | c.612_615del (p.Thr205SerfsTer4) c.765_768del (p.Thr256SerfsTer4) c.432_435del (p.Thr145SerfsTer4) c.699_702del (p.Thr234SerfsTer4) n.1489_1492del c.621_624del (p.Thr208SerfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128250G>A | CA411773319 | CYP2D6 | c.614C>T (p.Thr205Ile) c.767C>T (p.Thr256Ile) c.434C>T (p.Thr145Ile) c.701C>T (p.Thr234Ile) n.1491C>T c.623C>T (p.Thr208Ile) | dbSNP |
22 | g.42128250G>C | CA411773321 | CYP2D6 | c.614C>G (p.Thr205Ser) c.767C>G (p.Thr256Ser) c.434C>G (p.Thr145Ser) c.701C>G (p.Thr234Ser) n.1491C>G c.623C>G (p.Thr208Ser) | |
22 | g.42128250G= | CA2406579044 | CYP2D6 | c.614C= (p.Thr205=) c.767C= (p.Thr256=) c.434C= (p.Thr145=) c.701C= (p.Thr234=) n.1491C= c.623C= (p.Thr208=) | |
22 | g.42128250G>T | CA411773323 | CYP2D6 | c.614C>A (p.Thr205Asn) c.767C>A (p.Thr256Asn) c.434C>A (p.Thr145Asn) c.701C>A (p.Thr234Asn) n.1491C>A c.623C>A (p.Thr208Asn) | gnomAD v4 |
22 | g.42128251T>A | CA411773325 | CYP2D6 | c.613A>T (p.Thr205Ser) c.766A>T (p.Thr256Ser) c.433A>T (p.Thr145Ser) c.700A>T (p.Thr234Ser) n.1490A>T c.622A>T (p.Thr208Ser) | dbSNP |
22 | g.42128251T>C | CA411773327 | CYP2D6 | c.613A>G (p.Thr205Ala) c.766A>G (p.Thr256Ala) c.433A>G (p.Thr145Ala) c.700A>G (p.Thr234Ala) n.1490A>G c.622A>G (p.Thr208Ala) | |
22 | g.42128251T>G | CA411773329 | CYP2D6 | c.613A>C (p.Thr205Pro) c.766A>C (p.Thr256Pro) c.433A>C (p.Thr145Pro) c.700A>C (p.Thr234Pro) n.1490A>C c.622A>C (p.Thr208Pro) | |
22 | g.42128252T>A | CA514800301 | CYP2D6 | c.612A>T (p.Leu204=) c.765A>T (p.Leu255=) c.432A>T (p.Leu144=) c.699A>T (p.Leu233=) n.1489A>T c.621A>T (p.Leu207=) | |
22 | g.42128252T>C | CA10264886 | CYP2D6 | c.612A>G (p.Leu204=) c.765A>G (p.Leu255=) c.432A>G (p.Leu144=) c.699A>G (p.Leu233=) n.1489A>G c.621A>G (p.Leu207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42128252T>G | CA514800302 | CYP2D6 | c.612A>C (p.Leu204=) c.765A>C (p.Leu255=) c.432A>C (p.Leu144=) c.699A>C (p.Leu233=) n.1489A>C c.621A>C (p.Leu207=) | gnomAD v2 gnomAD v4 |
22 | g.42128252T= | CA2406579045 | CYP2D6 | c.612A= (p.Leu204=) c.765A= (p.Leu255=) c.432A= (p.Leu144=) c.699A= (p.Leu233=) n.1489A= c.621A= (p.Leu207=) | |
22 | g.42128252_42128255delinsTAGC | CA2406579046 | CYP2D6 | c.609_612delinsGCTA (p.Leu203=) c.762_765delinsGCTA (p.Leu254=) c.429_432delinsGCTA (p.Leu143=) c.696_699delinsGCTA (p.Leu232=) n.1486_1489delinsGCTA c.618_621delinsGCTA (p.Leu206=) | |
22 | g.42128253A= | CA2406579047 | CYP2D6 | c.611T= (p.Leu204=) c.764T= (p.Leu255=) c.431T= (p.Leu144=) c.698T= (p.Leu233=) n.1488T= c.620T= (p.Leu207=) | |
22 | g.42128253A>C | CA411773332 | CYP2D6 | c.611T>G (p.Leu204Arg) c.764T>G (p.Leu255Arg) c.431T>G (p.Leu144Arg) c.698T>G (p.Leu233Arg) n.1488T>G c.620T>G (p.Leu207Arg) |