NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
|
rs377335295
|
0.00007
|
NM_000304.4(PMP22):c.*83del
|
rs1222938795
|
0.00004
|
NM_000304.4(PMP22):c.179-13C>G
|
rs756820859
|
0.00002
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
rs375449671
|
0.00002
|
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
|
rs759808649
|
0.00001
|
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
|
rs140763467
|
0.00001
|
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
|
rs749165928
|
0.00001
|
NM_000304.4(PMP22):c.78+5G>A
|
rs1174594975
|
0.00001
|
NM_000304.4(PMP22):c.116G>A (p.Trp39Ter)
|
rs1597632998
|
|
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846
|
|
NM_000304.4(PMP22):c.11del (p.Leu4fs)
|
rs1597635843
|
|
NM_000304.4(PMP22):c.130_131del (p.Thr44fs)
|
rs1597632943
|
|
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)
|
rs1597632913
|
|
NM_000304.4(PMP22):c.174_178+7del
|
rs1597632803
|
|
NM_000304.4(PMP22):c.178+1G>C
|
rs1597632815
|
|
NM_000304.4(PMP22):c.179-1G>A
|
rs1597608220
|
|
NM_000304.4(PMP22):c.179-1G>C
|
rs1597608220
|
|
NM_000304.4(PMP22):c.179-2A>G
|
rs1597608225
|
|
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
|
rs1597608203
|
|
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
|
rs1597608152
|
|
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)
|
rs587776691
|
|
NM_000304.4(PMP22):c.206T>G (p.Met69Arg)
|
rs104894620
|
|
NM_000304.4(PMP22):c.227del (p.Ser76fs)
|
rs1597608057
|
|
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
|
rs1555565276
|
|
NM_000304.4(PMP22):c.238CTGTTC[1] (p.80LF[1])
|
rs1907117054
|
|
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del)
|
rs1597607920
|
|
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
|
rs778693173
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys)
|
rs1555565234
|
|
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
rs1597607713
|
|
NM_000304.4(PMP22):c.297del (p.Gly100fs)
|
rs1597607665
|
|
NM_000304.4(PMP22):c.299G>T (p.Gly100Val)
|
rs1597607638
|
|
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)
|
rs1567704621
|
|
NM_000304.4(PMP22):c.312del (p.Ala106fs)
|
rs1597607585
|
|
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)
|
rs1597607558
|
|
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp)
|
rs1597607537
|
|
NM_000304.4(PMP22):c.318del (p.Gly107fs)
|
rs1597607532
|
|
NM_000304.4(PMP22):c.319+16T>G
|
rs751416357
|
|
NM_000304.4(PMP22):c.319+1G>A
|
rs1597607514
|
|
NM_000304.4(PMP22):c.320-1G>C
|
rs1597597908
|
|
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
|
rs1597597900
|
|
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)
|
rs1597597876
|
|
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
|
rs1597597821
|
|
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
|
rs786205111
|
|
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)
|
rs1597597781
|
|
NM_000304.4(PMP22):c.364_365del (p.Pro122fs)
|
rs1597597725
|
|
NM_000304.4(PMP22):c.367del (p.Glu123fs)
|
rs1597597710
|
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
rs1555564040
|
|
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
|
rs1597597534
|
|
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
|
rs1597597445
|
|
NM_000304.4(PMP22):c.443_444del (p.Leu148fs)
|
rs1597597443
|
|
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
|
rs1906257962
|
|
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)
|
rs28936682
|
|
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro)
|
rs773478255
|
|
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)
|
rs1597635677
|
|
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
|
rs906563423
|
|
NM_000304.4(PMP22):c.75_78+2del
|
rs1597635535
|
|
NM_000304.4(PMP22):c.78+1G>T
|
rs1426969421
|
|
NM_000304.4(PMP22):c.79-2A>G
|
rs1597633171
|
|
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys)
|
rs1442525908
|
|