NM_000304.4(PMP22):c.206T>C (p.Met69Thr)
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rs104894620
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0.00001
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NC_000001.11:g.(?_161305674)_(161307434_?)del
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NM_000304.4(PMP22):c.160_178+78delinsGGAC
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NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
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rs1555565276
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NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
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rs863225027
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NM_000304.4(PMP22):c.299G>T (p.Gly100Val)
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rs1597607638
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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.418T>A (p.Trp140Arg)
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rs1555564040
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NM_000304.4(PMP22):c.418T>C (p.Trp140Arg)
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rs1555564040
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NM_000304.4(PMP22):c.434T>G (p.Leu145Arg)
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rs1906263385
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NM_000304.4(PMP22):c.43GTGCTG[3] (p.Leu18_Leu19insValLeu)
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NM_000304.4(PMP22):c.440T>C (p.Leu147Pro)
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NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)
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rs104894624
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NM_000304.4(PMP22):c.68C>A (p.Thr23Lys)
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rs906563423
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NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
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rs906563423
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NM_000304.4(PMP22):c.78+2T>C
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NM_000304.4(PMP22):c.78+2del
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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.1066G>A (p.Glu356Lys)
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rs751448371
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NM_000399.5(EGR2):c.791C>T (p.Pro264Leu)
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rs1842187600
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NM_000530.8(MPZ):c.113T>A (p.Val38Asp)
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rs1670288801
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NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
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rs1180998665
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NM_000530.8(MPZ):c.156C>G (p.Phe52Leu)
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rs2102260015
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NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
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rs1571820092
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NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)
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rs1553259760
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NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
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rs201720099
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NM_000530.8(MPZ):c.235-1G>T
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rs1571819375
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NM_000530.8(MPZ):c.235-2A>G
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NM_000530.8(MPZ):c.241C>T (p.His81Tyr)
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rs281865123
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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.277G>A (p.Gly93Arg)
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rs1553259691
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NM_000530.8(MPZ):c.277G>C (p.Gly93Arg)
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rs1553259691
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NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)
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rs1060503423
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NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)
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rs1558154149
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NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)
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rs1060503420
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NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
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rs1468741050
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NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)
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rs1553259663
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NM_000530.8(MPZ):c.335T>C (p.Ile112Thr)
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rs1553259662
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NM_000530.8(MPZ):c.380G>C (p.Cys127Ser)
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rs797044941
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NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)
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rs267607243
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NM_000530.8(MPZ):c.394C>T (p.Pro132Ser)
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rs1553259649
|
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NM_000530.8(MPZ):c.397C>G (p.Pro133Ala)
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rs1553259648
|
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NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
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rs1553259648
|
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NM_000530.8(MPZ):c.398C>G (p.Pro133Arg)
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rs1558154010
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NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)
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rs879253858
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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.419C>G (p.Ser140Cys)
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rs863224449
|
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NM_000530.8(MPZ):c.437T>C (p.Val146Ala)
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rs1571818614
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NM_000530.8(MPZ):c.448+1G>A
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|
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NM_000530.8(MPZ):c.448+1G>T
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rs1407955132
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NM_000530.8(MPZ):c.448+2T>A
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NM_000530.8(MPZ):c.448+2T>C
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rs1670257221
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NM_000530.8(MPZ):c.448+2T>G
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rs1670257221
|
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NM_000530.8(MPZ):c.68-1G>A
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rs1057518021
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NM_000530.8(MPZ):c.68-1G>C
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rs1057518021
|
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NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
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rs1571817146
|
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NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
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rs281865121
|
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NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)
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rs281865121
|
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