NM_000533.5(PLP1):c.609T>C (p.Asp203=)
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rs1126707
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0.24238
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NM_000533.5(PLP1):c.622+28C>G
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rs16984053
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0.01887
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NM_000533.5(PLP1):c.-31C>T
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rs2233695
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0.00152
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NC_000023.11:g.(103477300_103776506)_(104039333_104817980)dup
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NC_000023.11:g.(?_103776506)_(103799000_104817980)del
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NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr)
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rs1569427275
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NM_000533.5(PLP1):c.128C>T (p.Thr43Ile)
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rs132630289
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NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)
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rs1060500909
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NM_000533.5(PLP1):c.166C>T (p.Gln56Ter)
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rs1569427311
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NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr)
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rs132630296
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NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys)
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rs2074490307
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NM_000533.5(PLP1):c.175G>T (p.Glu59Ter)
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rs1060499653
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NM_000533.5(PLP1):c.191+6T>C
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|
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NM_000533.5(PLP1):c.1A>G (p.Met1Val)
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rs797045064
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NM_000533.5(PLP1):c.21T>A (p.Cys7Ter)
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rs1038021317
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NM_000533.5(PLP1):c.220G>A (p.Gly74Arg)
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rs132630285
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NM_000533.5(PLP1):c.226G>C (p.Ala76Pro)
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rs2147764222
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NM_000533.5(PLP1):c.295C>T (p.Gln99Ter)
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rs1602382829
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NM_000533.5(PLP1):c.354_355del (p.Gly120fs)
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rs1556267123
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NM_000533.5(PLP1):c.384_393del (p.Gln129fs)
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rs1556267215
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NM_000533.5(PLP1):c.4+5G>A
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NM_000533.5(PLP1):c.410G>A (p.Arg137Gln)
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|
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NM_000533.5(PLP1):c.442C>T (p.His148Tyr)
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rs2147764634
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NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)
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rs11543022
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NM_000533.5(PLP1):c.453+159G>A
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rs1602383261
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NM_000533.5(PLP1):c.453+164G>A
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rs1602383268
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NM_000533.5(PLP1):c.453+2T>C
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rs1556267388
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NM_000533.5(PLP1):c.453+4A>G
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rs1569427707
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NM_000533.5(PLP1):c.454-1G>A
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NM_000533.5(PLP1):c.454-20C>A
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rs1328774826
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NM_000533.5(PLP1):c.454-312C>G
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rs1602383723
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NM_000533.5(PLP1):c.467C>T (p.Thr156Ile)
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rs132630280
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NM_000533.5(PLP1):c.487T>C (p.Trp163Arg)
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rs132630279
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NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)
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rs797045890
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NM_000533.5(PLP1):c.505T>C (p.Cys169Arg)
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|
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NM_000533.5(PLP1):c.518C>G (p.Pro173Arg)
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rs1556269029
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NM_000533.5(PLP1):c.543G>C (p.Trp181Cys)
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rs2147766040
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NM_000533.5(PLP1):c.544A>C (p.Thr182Pro)
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rs132630282
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NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr)
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rs1602384238
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NM_000533.5(PLP1):c.607G>A (p.Asp203Asn)
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rs132630284
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NM_000533.5(PLP1):c.607G>C (p.Asp203His)
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rs132630284
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NM_000533.5(PLP1):c.617T>G (p.Met206Arg)
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rs1556269487
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NM_000533.5(PLP1):c.634T>C (p.Trp212Arg)
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rs2147766937
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NM_000533.5(PLP1):c.646C>T (p.Pro216Ser)
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rs132630278
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NM_000533.5(PLP1):c.655G>T (p.Val219Phe)
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rs132630281
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NM_000533.5(PLP1):c.658T>G (p.Cys220Gly)
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rs1556270312
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NM_000533.5(PLP1):c.665C>G (p.Ser222Cys)
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rs2147766999
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NM_000533.5(PLP1):c.671T>C (p.Leu224Pro)
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rs132630283
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NM_000533.5(PLP1):c.694G>A (p.Glu232Lys)
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|
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NM_000533.5(PLP1):c.709T>G (p.Phe237Val)
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rs1602385663
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NM_000533.5(PLP1):c.743C>A (p.Ala248Glu)
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rs917348091
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NM_000533.5(PLP1):c.74G>T (p.Cys25Phe)
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rs2147762985
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NM_000533.5(PLP1):c.754del (p.Val252fs)
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|
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NM_000533.5(PLP1):c.762+1G>A
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rs2147768084
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NM_000533.5(PLP1):c.762+3G>T
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rs1569428537
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NM_000533.5(PLP1):c.98G>T (p.Cys33Phe)
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rs1064794255
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NM_020435.4(GJC2):c.-20G>C
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rs1558116949
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NM_020435.4(GJC2):c.591dup (p.His198fs)
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rs1455411788
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Single allele
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