NM_000304.4(PMP22):c.396C>T (p.Tyr132=)
|
rs74361095
|
0.00743
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989
|
0.00069
|
NM_000304.4(PMP22):c.-134G>A
|
rs754758124
|
0.00013
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)
|
rs755701957
|
0.00002
|
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)
|
rs1022583382
|
0.00001
|
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
|
|
|
NC_000017.10:g.(?_15133094)_(15164078_?)dup
|
|
|
NC_000017.11:g.(?_14440201)_(15475424_?)dup
|
|
|
NC_000017.11:g.15133096_15164093dup
|
|
|
NM_000304.4(PMP22):c.102C>A (p.His34Gln)
|
rs779654897
|
|
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846
|
|
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
|
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.206T>A (p.Met69Lys)
|
rs104894620
|
|
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)
|
rs104894621
|
|
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
|
rs863225027
|
|
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618
|
|
NM_000304.4(PMP22):c.257_267del (p.Gln86fs)
|
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.341C>T (p.Ala114Val)
|
rs1217342392
|
|
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
|
rs786205111
|
|
NM_000304.4(PMP22):c.35A>G (p.His12Arg)
|
rs1909248652
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985
|
|
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.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)
|
rs879253954
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625
|
|
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626
|
|