| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42128942_42128943insAAAGGGGCGAAAGGGGCG | CA10265051 | CYP2D6 | c.369_370insTTTCGCCCCTTTCGCCCC (p.Pro123_Asn124insPheArgProPheArgPro) c.522_523insTTTCGCCCCTTTCGCCCC (p.Pro174_Asn175insPheArgProPheArgPro) c.189_190insTTTCGCCCCTTTCGCCCC (p.Pro63_Asn64insPheArgProPheArgPro) c.456_457insTTTCGCCCCTTTCGCCCC (p.Pro152_Asn153insPheArgProPheArgPro) n.1246_1247insTTTCGCCCCTTTCGCCCC c.378_379insTTTCGCCCCTTTCGCCCC (p.Pro126_Asn127insPheArgProPheArgPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128942_42128943insAAAGGGGCGAAAGGGGCGAAAGGGGCG | CA639828290 | CYP2D6 | c.369_370insTTTCGCCCCTTTCGCCCCTTTCGCCCC (p.Pro123_Asn124insPheArgProPheArgProPheArgPro) c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC (p.Pro174_Asn175insPheArgProPheArgProPheArgPro) c.189_190insTTTCGCCCCTTTCGCCCCTTTCGCCCC (p.Pro63_Asn64insPheArgProPheArgProPheArgPro) c.456_457insTTTCGCCCCTTTCGCCCCTTTCGCCCC (p.Pro152_Asn153insPheArgProPheArgProPheArgPro) n.1246_1247insTTTCGCCCCTTTCGCCCCTTTCGCCCC c.378_379insTTTCGCCCCTTTCGCCCCTTTCGCCCC (p.Pro126_Asn127insPheArgProPheArgProPheArgPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128934_42128942dup | CA10265052 | CYP2D6 | c.361_369dup (p.Pro123_Asn124insPheArgPro) c.514_522dup (p.Pro174_Asn175insPheArgPro) c.181_189dup (p.Pro63_Asn64insPheArgPro) c.448_456dup (p.Pro152_Asn153insPheArgPro) n.1238_1246dup c.370_378dup (p.Pro126_Asn127insPheArgPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128934_42128964dup | CA2657034058 | CYP2D6 | c.353-19_364dup c.506-19_517dup c.173-19_184dup c.440-19_451dup n.1230-19_1241dup c.363-20_373dup | gnomAD v4 |
| 22 | g.42128936dup | CA2526394572 | CYP2D6 | c.363dup (p.Arg122SerfsTer?) c.516dup (p.Arg173SerfsTer?) c.183dup (p.Arg62SerfsTer?) c.450dup (p.Arg151SerfsTer?) n.1240dup c.372dup (p.Arg125SerfsTer?) | dbSNP |
| 22 | g.42128936del | CA2657034074 | CYP2D6 | c.363del (p.Arg122AlafsTer10) c.516del (p.Arg173AlafsTer10) c.183del (p.Arg62AlafsTer10) c.450del (p.Arg151AlafsTer10) n.1240del c.372del (p.Arg125AlafsTer10) | gnomAD v4 |
| 22 | g.42128936A>C | CA411774135 | CYP2D6 | c.361T>G (p.Phe121Val) c.514T>G (p.Phe172Val) c.181T>G (p.Phe61Val) c.448T>G (p.Phe150Val) n.1238T>G c.370T>G (p.Phe124Val) | dbSNP |
| 22 | g.42128936A>G | CA411774137 | CYP2D6 | c.361T>C (p.Phe121Leu) c.514T>C (p.Phe172Leu) c.181T>C (p.Phe61Leu) c.448T>C (p.Phe150Leu) n.1238T>C c.370T>C (p.Phe124Leu) | |
| 22 | g.42128936A>T | CA411774139 | CYP2D6 | c.361T>A (p.Phe121Ile) c.514T>A (p.Phe172Ile) c.181T>A (p.Phe61Ile) c.448T>A (p.Phe150Ile) n.1238T>A c.370T>A (p.Phe124Ile) | gnomAD v4 |
| 22 | g.42128937G>A | CA10265055 | CYP2D6 | c.360C>T (p.Pro120=) c.513C>T (p.Pro171=) c.180C>T (p.Pro60=) c.447C>T (p.Pro149=) n.1237C>T c.369C>T (p.Pro123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42128937G>C | CA514697384 | CYP2D6 | c.360C>G (p.Pro120=) c.513C>G (p.Pro171=) c.180C>G (p.Pro60=) c.447C>G (p.Pro149=) n.1237C>G c.369C>G (p.Pro123=) | |
| 22 | g.42128937G= | CA2406579585 | CYP2D6 | c.360C= (p.Pro120=) c.513C= (p.Pro171=) c.180C= (p.Pro60=) c.447C= (p.Pro149=) n.1237C= c.369C= (p.Pro123=) | |
| 22 | g.42128937G>T | CA514697386 | CYP2D6 | c.360C>A (p.Pro120=) c.513C>A (p.Pro171=) c.180C>A (p.Pro60=) c.447C>A (p.Pro149=) n.1237C>A c.369C>A (p.Pro123=) | gnomAD v4 |
| 22 | g.42128940del | CA2657034090 | CYP2D6 | c.360del (p.Arg122AlafsTer10) c.513del (p.Arg173AlafsTer10) c.180del (p.Arg62AlafsTer10) c.447del (p.Arg151AlafsTer10) n.1237del c.369del (p.Arg125AlafsTer10) | gnomAD v4 |
| 22 | g.42128942_42128943insAAAGGGGCGAAGGGGGCG | CA1025922551 | CYP2D6 | c.360_361insCTTCGCCCCTTTCGCCCC (p.Pro120_Phe121insLeuArgProPheArgPro) c.513_514insCTTCGCCCCTTTCGCCCC (p.Pro171_Phe172insLeuArgProPheArgPro) c.180_181insCTTCGCCCCTTTCGCCCC (p.Pro60_Phe61insLeuArgProPheArgPro) c.447_448insCTTCGCCCCTTTCGCCCC (p.Pro149_Phe150insLeuArgProPheArgPro) n.1237_1238insCTTCGCCCCTTTCGCCCC c.369_370insCTTCGCCCCTTTCGCCCC (p.Pro123_Phe124insLeuArgProPheArgPro) | gnomAD v3 gnomAD v4 |
| 22 | g.42128938G>A | CA411774142 | CYP2D6 | c.359C>T (p.Pro120Leu) c.512C>T (p.Pro171Leu) c.179C>T (p.Pro60Leu) c.446C>T (p.Pro149Leu) n.1236C>T c.368C>T (p.Pro123Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128938G>C | CA411774144 | CYP2D6 | c.359C>G (p.Pro120Arg) c.512C>G (p.Pro171Arg) c.179C>G (p.Pro60Arg) c.446C>G (p.Pro149Arg) n.1236C>G c.368C>G (p.Pro123Arg) | dbSNP |
| 22 | g.42128938G= | CA2406579586 | CYP2D6 | c.359C= (p.Pro120=) c.512C= (p.Pro171=) c.179C= (p.Pro60=) c.446C= (p.Pro149=) n.1236C= c.368C= (p.Pro123=) | |
| 22 | g.42128938G>T | CA411774146 | CYP2D6 | c.359C>A (p.Pro120His) c.512C>A (p.Pro171His) c.179C>A (p.Pro60His) c.446C>A (p.Pro149His) n.1236C>A c.368C>A (p.Pro123His) | dbSNP gnomAD v4 |
| 22 | g.42128939G>A | CA324672391 | CYP2D6 | c.358C>T (p.Pro120Ser) c.511C>T (p.Pro171Ser) c.178C>T (p.Pro60Ser) c.445C>T (p.Pro149Ser) n.1235C>T c.367C>T (p.Pro123Ser) | dbSNP gnomAD v4 |
| 22 | g.42128939G>C | CA411774150 | CYP2D6 | c.358C>G (p.Pro120Ala) c.511C>G (p.Pro171Ala) c.178C>G (p.Pro60Ala) c.445C>G (p.Pro149Ala) n.1235C>G c.367C>G (p.Pro123Ala) | dbSNP |
| 22 | g.42128939G= | CA2406579587 | CYP2D6 | c.358C= (p.Pro120=) c.511C= (p.Pro171=) c.178C= (p.Pro60=) c.445C= (p.Pro149=) n.1235C= c.367C= (p.Pro123=) | |
| 22 | g.42128939G>T | CA411774149 | CYP2D6 | c.358C>A (p.Pro120Thr) c.511C>A (p.Pro171Thr) c.178C>A (p.Pro60Thr) c.445C>A (p.Pro149Thr) n.1235C>A c.367C>A (p.Pro123Thr) | dbSNP |
| 22 | g.42128940G>A | CA514697400 | CYP2D6 | c.357C>T (p.Arg119=) c.510C>T (p.Arg170=) c.177C>T (p.Arg59=) c.444C>T (p.Arg148=) n.1234C>T c.366C>T (p.Arg122=) | dbSNP gnomAD v4 |
| 22 | g.42128940G>C | CA514697402 | CYP2D6 | c.357C>G (p.Arg119=) c.510C>G (p.Arg170=) c.177C>G (p.Arg59=) c.444C>G (p.Arg148=) n.1234C>G c.366C>G (p.Arg122=) | dbSNP |
| 22 | g.42128940G= | CA2406579588 | CYP2D6 | c.357C= (p.Arg119=) c.510C= (p.Arg170=) c.177C= (p.Arg59=) c.444C= (p.Arg148=) n.1234C= c.366C= (p.Arg122=) | |
| 22 | g.42128940G>T | CA514697398 | CYP2D6 | c.357C>A (p.Arg119=) c.510C>A (p.Arg170=) c.177C>A (p.Arg59=) c.444C>A (p.Arg148=) n.1234C>A c.366C>A (p.Arg122=) | dbSNP gnomAD v4 |
| 22 | g.42128941C>A | CA411774154 | CYP2D6 | c.356G>T (p.Arg119Leu) c.509G>T (p.Arg170Leu) c.176G>T (p.Arg59Leu) c.443G>T (p.Arg148Leu) n.1233G>T c.365G>T (p.Arg122Leu) | gnomAD v4 |
| 22 | g.42128941C>G | CA411774155 | CYP2D6 | c.356G>C (p.Arg119Pro) c.509G>C (p.Arg170Pro) c.176G>C (p.Arg59Pro) c.443G>C (p.Arg148Pro) n.1233G>C c.365G>C (p.Arg122Pro) | dbSNP |
| 22 | g.42128941C>T | CA411774158 | CYP2D6 | c.356G>A (p.Arg119His) c.509G>A (p.Arg170His) c.176G>A (p.Arg59His) c.443G>A (p.Arg148His) n.1233G>A c.365G>A (p.Arg122His) | gnomAD v4 COSMIC COSMIC |
| 22 | g.42128942G>A | CA10265056 | CYP2D6 | c.355C>T (p.Arg119Cys) c.508C>T (p.Arg170Cys) c.175C>T (p.Arg59Cys) c.442C>T (p.Arg148Cys) n.1232C>T c.364C>T (p.Arg122Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128942G>C | CA411774161 | CYP2D6 | c.355C>G (p.Arg119Gly) c.508C>G (p.Arg170Gly) c.175C>G (p.Arg59Gly) c.442C>G (p.Arg148Gly) n.1232C>G c.364C>G (p.Arg122Gly) | |
| 22 | g.42128942G= | CA2406579589 | CYP2D6 | c.355C= (p.Arg119=) c.508C= (p.Arg170=) c.175C= (p.Arg59=) c.442C= (p.Arg148=) n.1232C= c.364C= (p.Arg122=) | |
| 22 | g.42128942G>T | CA411774163 | CYP2D6 | c.355C>A (p.Arg119Ser) c.508C>A (p.Arg170Ser) c.175C>A (p.Arg59Ser) c.442C>A (p.Arg148Ser) n.1232C>A c.364C>A (p.Arg122Ser) | dbSNP |
| 22 | g.42128943T>A | CA514697415 | CYP2D6 | c.354A>T (p.Gly118=) c.507A>T (p.Gly169=) c.174A>T (p.Gly58=) c.441A>T (p.Gly147=) n.1231A>T c.363A>T (p.Arg121=) | dbSNP |
| 22 | g.42128943T>C | CA514697416 | CYP2D6 | c.354A>G (p.Gly118=) c.507A>G (p.Gly169=) c.174A>G (p.Gly58=) c.441A>G (p.Gly147=) n.1231A>G c.363A>G (p.Arg121=) | dbSNP gnomAD v4 |
| 22 | g.42128943T>G | CA514697418 | CYP2D6 | c.354A>C (p.Gly118=) c.507A>C (p.Gly169=) c.174A>C (p.Gly58=) c.441A>C (p.Gly147=) n.1231A>C c.363A>C (p.Arg121=) | dbSNP gnomAD v4 |
| 22 | g.42128943_42128945delinsTCC | CA2406579590 | CYP2D6 | c.353-1_354delinsGGA c.506-1_507delinsGGA c.173-1_174delinsGGA c.440-1_441delinsGGA n.1230-1_1231delinsGGA c.363-2_363delinsGGA | |
| 22 | g.42128943_42128946del | CA514697420 | CYP2D6 | c.353-2_354del c.506-2_507del c.173-2_174del c.440-2_441del n.1230-2_1231del c.363-3_363del | |
| 22 | g.42128944C>A | CA411774165 | CYP2D6 | c.353G>T (p.Gly118Val) c.506G>T (p.Gly169Val) c.173G>T (p.Gly58Val) c.440G>T (p.Gly147Val) n.1230G>T c.363-1G>T (n.363-1G>T) | dbSNP gnomAD v4 |
| 22 | g.42128944C= | CA2406579591 | CYP2D6 | c.353G= (p.Gly118=) c.506G= (p.Gly169=) c.173G= (p.Gly58=) c.440G= (p.Gly147=) n.1230G= c.363-1G= (n.363-1G=) | |
| 22 | g.42128944C>G | CA411774167 | CYP2D6 | c.353G>C (p.Gly118Ala) c.506G>C (p.Gly169Ala) c.173G>C (p.Gly58Ala) c.440G>C (p.Gly147Ala) n.1230G>C c.363-1G>C (n.363-1G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128944C>T | CA411774168 | CYP2D6 | c.353G>A (p.Gly118Glu) c.506G>A (p.Gly169Glu) c.173G>A (p.Gly58Glu) c.440G>A (p.Gly147Glu) n.1230G>A c.363-1G>A (n.363-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42128944_42128945delinsT | CA324672412 | CYP2D6 | c.353-1_353delinsA c.506-1_506delinsA c.173-1_173delinsA c.440-1_440delinsA n.1230-1_1230delinsA c.363-2_363-1delinsA (n.363-2_363-1delinsA) | dbSNP |
| 22 | g.42128945del | CA324672399 | CYP2D6 | c.353del c.506del c.173del c.440del n.1230del c.363-1del (n.363-1del) | dbSNP |
| 22 | g.42128944_42128945insTTGGGGGTGGGAGATG | CA2657034171 | CYP2D6 | c.353-1_353insCATCTCCCACCCCCAA (n.353-1_353insCATCTCCCACCCCCAA) c.506-1_506insCATCTCCCACCCCCAA (n.506-1_506insCATCTCCCACCCCCAA) c.173-1_173insCATCTCCCACCCCCAA (n.173-1_173insCATCTCCCACCCCCAA) c.440-1_440insCATCTCCCACCCCCAA (n.440-1_440insCATCTCCCACCCCCAA) n.1230-1_1230insCATCTCCCACCCCCAA c.363-2_363-1insCATCTCCCACCCCCAA (n.363-2_363-1insCATCTCCCACCCCCAA) | gnomAD v4 |
| 22 | g.42128945C>A | CA411774170 | CYP2D6 | c.353-1G>T (n.353-1G>T) c.506-1G>T (n.506-1G>T) c.173-1G>T (n.173-1G>T) c.440-1G>T (n.440-1G>T) n.1230-1G>T c.363-2G>T (n.363-2G>T) | dbSNP gnomAD v4 |
| 22 | g.42128945C= | CA2406579592 | CYP2D6 | c.353-1G= (n.353-1G=) c.506-1G= (n.506-1G=) c.173-1G= (n.173-1G=) c.440-1G= (n.440-1G=) n.1230-1G= c.363-2G= (n.363-2G=) | |
| 22 | g.42128945C>G | CA411774173 | CYP2D6 | c.353-1G>C (n.353-1G>C) c.506-1G>C (n.506-1G>C) c.173-1G>C (n.173-1G>C) c.440-1G>C (n.440-1G>C) n.1230-1G>C c.363-2G>C (n.363-2G>C) | dbSNP gnomAD v4 |
| 22 | g.42128945C>T | CA126952 | CYP2D6 | c.353-1G>A (n.353-1G>A) c.506-1G>A (n.506-1G>A) c.173-1G>A (n.173-1G>A) c.440-1G>A (n.440-1G>A) n.1230-1G>A c.363-2G>A (n.363-2G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |