PGx: CYP2D6 structures from sub-region CN — *68+*4, *36+*10, *13 (PGX-013/018)
Sub-region CNs (p5, intron 2, exon 9) resolve full copies and *36/*68/*13 units; candidates carry the tandem names, background alleles, and CPIC activity sums. GeT-RM: CYP2D6 13/15 top (NA12878 *3/*68+*4 and NA11832 *1/*68+*4 exact), 15/15 within feasible; all genes 132/144.
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@@ -19,8 +19,8 @@
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},
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"CYP2D6": {
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"n": 15,
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"top": 12,
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"equivalent": 14
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"top": 13,
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"equivalent": 15
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},
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"CYP3A5": {
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"n": 15,
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@@ -84,8 +84,8 @@
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],
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"total": {
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"n": 144,
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"top": 131,
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"equivalent": 134
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"top": 132,
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"equivalent": 135
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},
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"discordant": [
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{
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@@ -137,13 +137,6 @@
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"call": "rs9923231 T/T",
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"within_equivalents": false
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},
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{
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"individual": "NA12878",
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"gene": "CYP2D6",
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"truth": "*3/(*68)+*4",
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"call": "*4x2/*1;*4x2/*82",
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"within_equivalents": false
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},
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{
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"individual": "NA12878",
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"gene": "UGT1A1",
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