NM_000399.5(EGR2):c.627= (p.Pro209=)
|
rs224083
|
0.98414
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
NM_000304.4(PMP22):c.396C>T (p.Tyr132=)
|
rs74361095
|
0.00743
|
NM_181882.3(PRX):c.4044G>C (p.Gly1348=)
|
rs76088917
|
0.00620
|
NM_181882.3(PRX):c.1281C>T (p.Ile427=)
|
rs76960467
|
0.00551
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989
|
0.00069
|
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)
|
rs118003416
|
0.00059
|
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln)
|
rs139586219
|
0.00058
|
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)
|
rs200332462
|
0.00058
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
NM_000304.4(PMP22):c.-134G>A
|
rs754758124
|
0.00013
|
NM_181882.3(PRX):c.718C>T (p.Arg240Trp)
|
rs199863083
|
0.00011
|
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)
|
rs144305922
|
0.00008
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)
|
rs758614032
|
0.00003
|
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)
|
rs138437458
|
0.00003
|
NM_181882.3(PRX):c.80C>A (p.Thr27Asn)
|
rs1291881750
|
0.00003
|
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)
|
rs755701957
|
0.00002
|
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)
|
rs773009397
|
0.00002
|
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)
|
rs1022583382
|
0.00001
|
NM_181882.3(PRX):c.2035C>T (p.Arg679Ter)
|
rs1469912467
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
|
rs1602348995
|
|
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826
|
|
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
|
rs940401899
|
|
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
|
rs1597608086
|
|
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
|
rs104894621
|
|
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
|
rs1597608049
|
|
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
|
rs863225027
|
|
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
|
rs1597607967
|
|
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
|
rs1597607967
|
|
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del)
|
rs1597607920
|
|
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
|
rs1597607651
|
|
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
|
rs1597607638
|
|
NM_000304.4(PMP22):c.34C>T (p.His12Tyr)
|
rs2150710219
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985
|
|
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
|
rs104894622
|
|
NM_000304.4(PMP22):c.418_438del (p.Trp140_Ala146del)
|
rs2150664583
|
|
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)
|
rs775019409
|
|
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)
|
rs879253954
|
|
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)
|
rs879253954
|
|
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
|
rs1597635666
|
|
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161
|
|
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)
|
rs1554853028
|
|
NM_000399.5(EGR2):c.1152C>A (p.His384Gln)
|
rs2132702519
|
|
NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)
|
rs2132702182
|
|
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)
|
rs121434563
|
|
NM_000399.5(EGR2):c.1294T>A (p.Ser432Thr)
|
|
|
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)
|
rs932803146
|
|
NM_000530.8(MPZ):c.123_125del (p.Val42del)
|
rs1571820248
|
|
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)
|
rs121913585
|
|
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
|
rs1571819975
|
|
NM_000530.8(MPZ):c.234G>A (p.Ser78=)
|
rs368149365
|
|
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
|
rs1571819301
|
|
NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del)
|
|
|
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)
|
rs1553259656
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
|
rs1571818880
|
|
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
|
rs797044941
|
|
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)
|
rs1553259648
|
|
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)
|
rs121913587
|
|
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
|
rs1571818744
|
|
NM_000530.8(MPZ):c.411C>T (p.Gly137=)
|
rs1558153994
|
|
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
|
rs754068936
|
|
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)
|
rs1571818114
|
|
NM_000530.8(MPZ):c.558del (p.Arg186fs)
|
rs1553259568
|
|
NM_000530.8(MPZ):c.562del (p.Ala188fs)
|
|
|
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
|
rs1571817201
|
|
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
|
rs1571817197
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121
|
|
NM_181882.3(PRX):c.1012del (p.Ala338fs)
|
rs1555801290
|
|
NM_181882.3(PRX):c.1552_1558del (p.Pro518fs)
|
rs2079443119
|
|
NM_181882.3(PRX):c.247del (p.Leu83fs)
|
rs281865061
|
|
NM_181882.3(PRX):c.4243G>A (p.Val1415Met)
|
rs201222650
|
|
NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln)
|
rs2079403438
|
|