NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
|
rs1427063795
|
0.00001
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)
|
rs1210729449
|
0.00001
|
NM_000166.6(GJB1):c.576del (p.Phe193fs)
|
rs1602349692
|
|
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
|
rs1602349779
|
|
NM_000166.6(GJB1):c.772del (p.Ser258fs)
|
rs1602349940
|
|
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
|
rs1602349962
|
|
NM_000166.6(GJB1):c.800del (p.Pro267fs)
|
rs1602350003
|
|
NM_000166.6(GJB1):c.822del (p.Glu275fs)
|
rs1602350029
|
|
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
|
rs1602350062
|
|
NM_000304.4(PMP22):c.138del (p.Ser47fs)
|
rs864622180
|
|
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
|
rs11545341
|
|
NM_000304.4(PMP22):c.76del (p.Ser26fs)
|
rs1597635540
|
|
NM_000530.8(MPZ):c.129_136del (p.Ser44fs)
|
rs760730366
|
|
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
|
rs1571819946
|
|
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
|
rs1571819906
|
|
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)
|
rs1553259703
|
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248
|
|
NM_000530.8(MPZ):c.560del (p.Gln187fs)
|
rs1571817966
|
|
NM_000530.8(MPZ):c.574_575del (p.Arg192fs)
|
rs1571817911
|
|
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026
|
|
NM_000530.8(MPZ):c.68-5_71del
|
rs1571820401
|
|
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)
|
rs1583964560
|
|
NM_001540.5(HSPB1):c.505del (p.Met169fs)
|
rs1583966508
|
|
NM_002047.4(GARS1):c.1031+1G>A
|
rs1554338272
|
|
NM_002047.4(GARS1):c.1809+1G>A
|
rs1554340340
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014874.4(MFN2):c.1392+1G>A
|
rs1569861708
|
|
NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)
|
rs1569871830
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs)
|
rs756461496
|
|
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
|
rs778547659
|
|
NM_018972.4(GDAP1):c.1A>T (p.Met1Leu)
|
rs1474390668
|
|
NM_018972.4(GDAP1):c.928del (p.Arg310fs)
|
rs1586807541
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179
|
|
NM_024577.4(SH3TC2):c.688del (p.Val230fs)
|
rs775740308
|
|
NM_024577.4(SH3TC2):c.957del (p.Phe320fs)
|
rs1554122541
|
|
NM_181882.3(PRX):c.1173del (p.Arg392fs)
|
rs757771239
|
|
NM_181882.3(PRX):c.124_125dup (p.Phe43fs)
|
rs1599662837
|
|