NC_000017.11:g.15133096_15164093dup
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NM_000304.3(PMP22):c.-223C>T
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rs549380262 |
NM_000304.4(PMP22):c.*1049C>G
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rs750733887 |
NM_000304.4(PMP22):c.*105_*109CAAAC[2]
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rs112829799 |
NM_000304.4(PMP22):c.*1111G>T
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rs7415 |
NM_000304.4(PMP22):c.*1120T>C
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rs11654383 |
NM_000304.4(PMP22):c.*173C>T
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rs117277951 |
NM_000304.4(PMP22):c.*174G>A
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NM_000304.4(PMP22):c.*200T>G
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NM_000304.4(PMP22):c.*205C>A
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rs189734097 |
NM_000304.4(PMP22):c.*228G>A
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rs1804193 |
NM_000304.4(PMP22):c.*243C>T
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rs533987307 |
NM_000304.4(PMP22):c.*26T>C
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rs200563670 |
NM_000304.4(PMP22):c.*376C>T
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NM_000304.4(PMP22):c.*3C>T
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rs373690370 |
NM_000304.4(PMP22):c.*525_*526CT[1]
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rs71699667 |
NM_000304.4(PMP22):c.*542C>T
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rs184928176 |
NM_000304.4(PMP22):c.*544C>T
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NM_000304.4(PMP22):c.*577T>C
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rs7538 |
NM_000304.4(PMP22):c.*596G>T
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NM_000304.4(PMP22):c.*59A>C
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rs13422 |
NM_000304.4(PMP22):c.*63A>C
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NM_000304.4(PMP22):c.*818T>C
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NM_000304.4(PMP22):c.*828G>A
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rs13027 |
NM_000304.4(PMP22):c.*83del
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rs1222938795 |
NM_000304.4(PMP22):c.*890C>T
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NM_000304.4(PMP22):c.*894C>T
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NM_000304.4(PMP22):c.*907C>A
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NM_000304.4(PMP22):c.*911C>T
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NM_000304.4(PMP22):c.*912G>A
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rs149070440 |
NM_000304.4(PMP22):c.*961C>G
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NM_000304.4(PMP22):c.*985C>T
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rs886052610 |
NM_000304.4(PMP22):c.-141C>G
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rs560442424 |
NM_000304.4(PMP22):c.-34-5C>T
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rs375105159 |
NM_000304.4(PMP22):c.-74A>G
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rs114365663 |
NM_000304.4(PMP22):c.-86A>C
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NM_000304.4(PMP22):c.116G>A (p.Trp39Ter)
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rs1597632998 |
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
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rs797044846 |
NM_000304.4(PMP22):c.11del (p.Leu4fs)
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rs1597635843 |
NM_000304.4(PMP22):c.130_131del (p.Thr44fs)
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rs1597632943 |
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)
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rs1597632913 |
NM_000304.4(PMP22):c.138del (p.Ser47fs)
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rs864622180 |
NM_000304.4(PMP22):c.152A>G (p.His51Arg)
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rs368908933 |
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
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NM_000304.4(PMP22):c.174_178+7del
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rs1597632803 |
NM_000304.4(PMP22):c.178+1G>C
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rs1597632815 |
NM_000304.4(PMP22):c.178+7C>A
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rs147885521 |
NM_000304.4(PMP22):c.179-13C>G
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NM_000304.4(PMP22):c.179-17G>A
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NM_000304.4(PMP22):c.179-1G>A
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rs1597608220 |
NM_000304.4(PMP22):c.179-1G>C
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rs1597608220 |
NM_000304.4(PMP22):c.179-2A>G
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rs1597608225 |
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
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rs1597608203 |
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
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rs756046682 |
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
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rs1597608152 |
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
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NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
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rs104894623 |
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
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rs104894623 |
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)
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rs587776691 |
NM_000304.4(PMP22):c.206T>G (p.Met69Arg)
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rs104894620 |
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
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rs940401899 |
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
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rs1597608086 |
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
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rs104894621 |
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
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rs1597608049 |
NM_000304.4(PMP22):c.227del (p.Ser76fs)
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rs1597608057 |
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
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rs1555565276 |
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
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rs863225027 |
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
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rs863225027 |
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
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rs104894618 |
NM_000304.4(PMP22):c.238_243CTGTTC[1] (p.80_81LF[1])
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NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
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rs1597607967 |
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
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rs1597607967 |
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
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rs1597607920 |
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
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NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
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rs11545341 |
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
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NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
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rs778693173 |
NM_000304.4(PMP22):c.281del (p.Gly94fs)
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rs80338763 |
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
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rs80338763 |
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys)
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rs1555565234 |
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
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rs1597607713 |
NM_000304.4(PMP22):c.297del (p.Gly100fs)
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rs1597607665 |
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
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rs1597607651 |
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
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rs1597607638 |
NM_000304.4(PMP22):c.299G>T (p.Gly100Val)
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rs1597607638 |
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)
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rs1567704621 |
NM_000304.4(PMP22):c.312del (p.Ala106fs)
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rs1597607585 |
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)
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rs1597607558 |
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp)
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rs1597607537 |
NM_000304.4(PMP22):c.318del (p.Gly107fs)
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rs1597607532 |
NM_000304.4(PMP22):c.319+16T>G
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rs751416357 |
NM_000304.4(PMP22):c.319+1G>A
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rs1597607514 |
NM_000304.4(PMP22):c.320-1G>C
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rs1597597908 |
NM_000304.4(PMP22):c.320-4C>T
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rs377467465 |
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
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rs1597597900 |
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)
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rs1597597876 |
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)
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rs863225028 |
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
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rs759808649 |
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
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rs1597597821 |
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
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NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
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rs786205111 |
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)
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rs1597597781 |
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
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rs104894619 |
NM_000304.4(PMP22):c.354G>T (p.Thr118=)
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NM_000304.4(PMP22):c.362A>G (p.His121Arg)
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rs1567698985 |
NM_000304.4(PMP22):c.364_365del (p.Pro122fs)
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rs1597597725 |
NM_000304.4(PMP22):c.366G>A (p.Pro122=)
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rs372723732 |
NM_000304.4(PMP22):c.367del (p.Glu123fs)
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rs1597597710 |
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
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rs104894622 |
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
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rs1597597683 |
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
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rs1597597678 |
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
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rs1597597627 |
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
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NM_000304.4(PMP22):c.402C>T (p.Phe134=)
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NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
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rs141094419 |
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
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NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
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rs1555564040 |
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
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rs1597597534 |
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)
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rs1597597527 |
NM_000304.4(PMP22):c.433del (p.Leu145fs)
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rs1567698872 |
NM_000304.4(PMP22):c.434del (p.Leu145fs)
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rs863225029 |
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
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rs1597597445 |
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
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rs1597597443 |
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)
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rs775019409 |
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)
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rs879253954 |
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)
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rs879253954 |
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
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NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)
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rs28936682 |
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
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rs28936682 |
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
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rs749165928 |
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro)
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rs773478255 |
NM_000304.4(PMP22):c.477C>T (p.Arg159=)
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NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)
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rs1022583382 |
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
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rs104894617 |
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)
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rs1597635677 |
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
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rs1597635666 |
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
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rs104894625 |
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
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rs906563423 |
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
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NM_000304.4(PMP22):c.75_78+2del
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rs1597635535 |
NM_000304.4(PMP22):c.76del (p.Ser26fs)
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rs1597635540 |
NM_000304.4(PMP22):c.78+1G>T
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rs1426969421 |
NM_000304.4(PMP22):c.78+3G>T
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rs1597635528 |
NM_000304.4(PMP22):c.78+5G>A
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rs1174594975 |
NM_000304.4(PMP22):c.79-2A>G
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rs1597633171 |
NM_000304.4(PMP22):c.79-6C>T
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rs201682989 |
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
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rs104894626 |
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys)
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rs1442525908 |
NM_000304.4(PMP22):c.87C>T (p.Ile29=)
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rs201192820 |
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
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rs377335295 |
NM_153321.3(PMP22):c.433dup (p.Leu145fs)
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rs1567698872 |
PMP22, 1.1- to 1.5-MB DEL
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PMP22, 1.4-MB DUP
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PMP22, 1.4-MB TRIPLICATION
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