NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)
|
rs773009397
|
0.00002
|
NM_181882.3(PRX):c.2035C>T (p.Arg679Ter)
|
rs1469912467
|
0.00001
|
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
|
rs1602348995
|
|
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.36C>A (p.His12Gln)
|
rs104894622
|
|
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.56T>C (p.Leu19Pro)
|
rs1597635666
|
|
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161
|
|
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.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
|
rs1571819301
|
|
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)
|
rs1553259656
|
|
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.407T>A (p.Val136Glu)
|
rs1571818744
|
|
NM_000530.8(MPZ):c.411C>T (p.Gly137=)
|
rs1558153994
|
|
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.661G>A (p.Ala221Thr)
|
rs1571817201
|
|
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
|
rs1571817197
|
|
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121
|
|
NM_181882.3(PRX):c.247del (p.Leu83fs)
|
rs281865061
|
|