NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
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rs121913603
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0.00004
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NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
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rs121913590
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0.00001
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NM_000530.8(MPZ):c.293G>A (p.Arg98His)
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rs121913589
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0.00001
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GRCh37/hg19 17p12(chr17:14063251-15449627)
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GRCh37/hg19 17p12(chr17:14095256-15492591)x3
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GRCh37/hg19 17p12(chr17:14096089-15492591)x3
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GRCh37/hg19 17p12(chr17:14104012-15422557)
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GRCh37/hg19 17p12(chr17:14105874-15611546)
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GRCh38/hg20 17p12(chr17:14170534-15591587)x4
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NC_000017.10:g.(?_15133094)_(15164078_?)dup
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NC_000017.11:g.(?_14440201)_(15475424_?)dup
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NC_000017.11:g.15133096_15164093dup
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NC_012920.1:m.9185T>C
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rs199476138
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NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
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rs104894623
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NM_000304.4(PMP22):c.206T>A (p.Met69Lys)
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rs104894620
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NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)
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rs104894621
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NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
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rs104894618
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NM_000304.4(PMP22):c.281del (p.Gly94fs)
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rs80338763
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NM_000304.4(PMP22):c.281dup (p.Arg95fs)
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rs80338763
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NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
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rs786205111
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NM_000304.4(PMP22):c.35A>G (p.His12Arg)
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rs1909248652
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NM_000304.4(PMP22):c.434del (p.Leu145fs)
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rs863225029
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NM_000304.4(PMP22):c.449G>T (p.Gly150Val)
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rs879253954
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NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
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rs104894617
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NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
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rs104894625
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NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
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rs104894626
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NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
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rs104894161
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NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
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rs281865137
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NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
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rs104894159
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NM_000530.6(MPZ):c.[241C>T;337G>T]
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NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)
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rs121913585
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NM_000530.8(MPZ):c.188_190del (p.Ser63del)
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rs879254109
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NM_000530.8(MPZ):c.234+1G>A
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NM_000530.8(MPZ):c.242A>G (p.His81Arg)
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rs121913594
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NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)
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rs121913584
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NM_000530.8(MPZ):c.276G>A (p.Val92=)
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rs1558154193
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NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)
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rs121913583
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NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
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rs121913589
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NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)
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rs121913600
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NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
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rs281865126
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NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)
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rs121913608
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NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
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rs121913595
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NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
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rs281865127
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NM_000530.8(MPZ):c.401A>T (p.Asp134Val)
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rs1571818775
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NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)
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rs879253858
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NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)
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rs121913587
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NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)
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rs121913588
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NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)
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rs863225025
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NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
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rs121913586
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NM_000530.8(MPZ):c.584+2T>G
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rs879254054
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NM_000530.8(MPZ):c.646-10_650del
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rs863225026
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NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG
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rs2102257349
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NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
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rs267607247
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NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)
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rs1324125372
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NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)
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rs281865134
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NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
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rs104894519
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NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)
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rs104894520
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NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)
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rs104894521
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NM_001136472.2(LITAF):c.364C>G (p.Leu122Val)
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rs104894522
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NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)
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rs281865135
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NM_001136472.2(LITAF):c.430G>A (p.Val144Met)
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rs121908615
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NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter)
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rs1429859627
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NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)
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rs3832558
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NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)
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rs2117256073
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NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)
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rs60261494
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NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)
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rs2117255599
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NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
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rs58982919
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NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)
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rs121913663
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NM_006158.5(NEFL):c.628G>T (p.Glu210Ter)
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rs199422214
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NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
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rs28928910
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NP_000521.1(MPZ):p.Asn116Ser
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Single allele
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