Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |