NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_003172.4(SURF1):c.240+1G>T
|
rs781948238
|
0.00004
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_022489.4(INF2):c.641G>A (p.Arg214His)
|
rs267606879
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020
|
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)
|
rs1568796236
|
|
NM_000214.3(JAG1):c.551G>A (p.Arg184His)
|
rs121918351
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)
|
rs863224229
|
|
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)
|
rs863224228
|
|
NM_003172.4(SURF1):c.367_368del (p.Arg123fs)
|
rs2119083553
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_022489.4(INF2):c.217G>A (p.Gly73Ser)
|
rs1566777560
|
|
NM_022489.4(INF2):c.550G>A (p.Glu184Lys)
|
rs1566778676
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|