NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
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rs587778778
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0.00011
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NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter)
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rs1171996547
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0.00001
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NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter)
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rs760855321
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0.00001
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NM_000370.3(TTPA):c.148delinsATG (p.Ser50fs)
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NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)
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NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs)
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NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
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NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
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NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)
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rs1943689487
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NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
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rs1943689766
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NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)
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rs1943689944
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NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
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rs1943690848
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NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
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NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
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NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
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NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)
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rs186812403
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NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)
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rs1414259537
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NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
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NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
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NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
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NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
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rs1943736070
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NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
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rs1943741125
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NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter)
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rs1725580386
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NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
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NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter)
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rs1725671165
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NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
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NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
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NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
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NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter)
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rs1486643983
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NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter)
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rs1725702758
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NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter)
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rs1725826321
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NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
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NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
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NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
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NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter)
|
rs1725885571
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NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter)
|
rs1725886004
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NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
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NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
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NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
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NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
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NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter)
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rs1725953201
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NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
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NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter)
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rs1725996321
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NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
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NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
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NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
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NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter)
|
rs1726001209
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NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
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NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
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NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter)
|
rs1726166189
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NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
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NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
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NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
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NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
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NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter)
|
rs1725178752
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NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
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NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
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NM_001386140.1(MTTP):c.546del (p.Asp183fs)
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NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter)
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rs1725413862
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NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
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NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
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NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
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NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
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NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter)
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rs1283854712
|
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NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
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NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
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NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter)
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rs1725516307
|
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NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
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