NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp)
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rs141304187
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0.00024
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NM_006031.6(PCNT):c.4447-2A>G
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rs760664460
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0.00010
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NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter)
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rs757793925
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0.00004
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NM_006031.6(PCNT):c.3465-1G>A
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rs755084205
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0.00002
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NM_006031.6(PCNT):c.5995-2A>C
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rs1174601545
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0.00002
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NM_006031.6(PCNT):c.3202G>T (p.Glu1068Ter)
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rs1215854055
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0.00001
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NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter)
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rs199566483
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0.00001
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NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)
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rs119479062
|
0.00001
|
NM_006031.6(PCNT):c.6412dup (p.Val2138fs)
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rs746584417
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0.00001
|
NM_006031.6(PCNT):c.8065-1G>C
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rs1450352574
|
0.00001
|
NC_000021.8:g.(?_47850401)_(47865240_?)del
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|
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NM_006031.6(PCNT):c.1032+1G>A
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rs1569178877
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NM_006031.6(PCNT):c.1147G>T (p.Glu383Ter)
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NM_006031.6(PCNT):c.1334_1335del (p.Lys445fs)
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NM_006031.6(PCNT):c.1345-1G>T
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NM_006031.6(PCNT):c.1679+1G>A
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NM_006031.6(PCNT):c.1680-1G>C
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NM_006031.6(PCNT):c.1958_2154+31del
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|
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NM_006031.6(PCNT):c.196G>T (p.Gly66Ter)
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rs587779355
|
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NM_006031.6(PCNT):c.2155-21_2186del
|
rs1555959737
|
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NM_006031.6(PCNT):c.2317G>T (p.Glu773Ter)
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|
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NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter)
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rs151020551
|
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NM_006031.6(PCNT):c.2609+2T>G
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NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
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NM_006031.6(PCNT):c.2813_2814del (p.Gln938fs)
|
rs2146922620
|
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NM_006031.6(PCNT):c.3165+1G>A
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|
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NM_006031.6(PCNT):c.3166-2A>C
|
rs774553297
|
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NM_006031.6(PCNT):c.3264del (p.Glu1089fs)
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|
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NM_006031.6(PCNT):c.3295_3312+14del
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|
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NM_006031.6(PCNT):c.3423del (p.Ser1142fs)
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rs2085816295
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NM_006031.6(PCNT):c.3608-2A>G
|
|
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NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)
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NM_006031.6(PCNT):c.3837_3841-542del
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NM_006031.6(PCNT):c.3928C>T (p.Gln1310Ter)
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|
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NM_006031.6(PCNT):c.398del (p.Phe133fs)
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rs1131691484
|
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NM_006031.6(PCNT):c.4117C>T (p.Gln1373Ter)
|
rs1555974965
|
|
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter)
|
rs1569249386
|
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NM_006031.6(PCNT):c.4448_4791+1del
|
|
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NM_006031.6(PCNT):c.4582G>T (p.Glu1528Ter)
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NM_006031.6(PCNT):c.4585-2A>G
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NM_006031.6(PCNT):c.4585-2A>T
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NM_006031.6(PCNT):c.4791+1G>A
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NM_006031.6(PCNT):c.4962+1G>C
|
|
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NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter)
|
rs587784308
|
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NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)
|
|
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NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter)
|
rs750764149
|
|
NM_006031.6(PCNT):c.546_547del (p.Gly183fs)
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|
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NM_006031.6(PCNT):c.5881del (p.Val1961fs)
|
rs2147678255
|
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NM_006031.6(PCNT):c.607del (p.His203fs)
|
rs767416279
|
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NM_006031.6(PCNT):c.6145_6150+54del
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|
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NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
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NM_006031.6(PCNT):c.640-1G>A
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NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
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NM_006031.6(PCNT):c.658G>T (p.Glu220Ter)
|
rs119479061
|
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NM_006031.6(PCNT):c.6922-1G>A
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NM_006031.6(PCNT):c.7024+1G>A
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NM_006031.6(PCNT):c.7024+1G>C
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NM_006031.6(PCNT):c.7321-1G>A
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NM_006031.6(PCNT):c.7494+1G>A
|
rs760423461
|
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NM_006031.6(PCNT):c.7559_7561delinsGGCC (p.Glu2520fs)
|
rs1601176084
|
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NM_006031.6(PCNT):c.7624_7631del (p.Leu2542fs)
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|
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NM_006031.6(PCNT):c.7690+1G>T
|
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NM_006031.6(PCNT):c.7690+2_7690+3del
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NM_006031.6(PCNT):c.7691-1G>A
|
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NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer)
|
rs2147963975
|
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NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)
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NM_006031.6(PCNT):c.8064+1G>A
|
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NM_006031.6(PCNT):c.8544del (p.Ala2849fs)
|
rs1266152010
|
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NM_006031.6(PCNT):c.8996+2T>C
|
|
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NM_006031.6(PCNT):c.9099+1G>A
|
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NM_006031.6(PCNT):c.9274-2A>G
|
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NM_006031.6(PCNT):c.9393+1G>A
|
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NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter)
|
rs2148093265
|
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NM_006031.6(PCNT):c.9624-2A>G
|
|
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NM_006031.6(PCNT):c.9700+2T>C
|
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NM_006031.6(PCNT):c.9701-1G>A
|
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NM_006031.6(PCNT):c.9701-2A>G
|
|
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NM_006031.6(PCNT):c.9701-2A>T
|
|
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NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter)
|
rs1474939581
|
|
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del
|
|
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