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.1A>G (p.Met1Val)
|
rs1427063795 |
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.572_573AG[1] (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_004715.4(CTDP1):c.863+389C>T
|
rs113994102 |
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383 |
NM_014874.3(MFN2):c.1392+1G>A
|
rs1569861708 |
NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter)
|
rs1569871830 |
NM_014874.3(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.501del (p.Glu168fs)
|
rs886041386 |
NM_018972.4(GDAP1):c.928del (p.Arg310fs)
|
rs1586807541 |
NM_020956.2(PRX):c.*2069C>T
|
rs1210729449 |
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
|
rs1599662837 |
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350 |
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181 |
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664 |
NM_024577.3(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179 |
NM_024577.3(SH3TC2):c.957del (p.Phe320fs)
|
rs1554122541 |
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678 |
NM_024577.4(SH3TC2):c.688del (p.Val230fs)
|
rs775740308 |
NM_181882.3(PRX):c.1173del (p.Arg392fs)
|
rs757771239 |