NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650
|
0.00004
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_007289.4(MME):c.307C>T (p.Arg103Cys)
|
rs765422392
|
0.00002
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu)
|
rs762042274
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)
|
rs368370291
|
0.00001
|
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys)
|
rs1803053166
|
0.00001
|
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr)
|
rs778223243
|
0.00001
|
GRCh37/hg19 17p12(chr17:14095256-15492591)x3
|
|
|
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
|
|
|
NM_000166.6(GJB1):c.467T>A (p.Leu156His)
|
rs104894818
|
|
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
|
rs104894811
|
|
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro)
|
rs2147946898
|
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099
|
|
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)
|
rs2147947019
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662
|
|
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser)
|
rs1670288209
|
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)
|
rs797044913
|
|
NM_001127173.3(CADM3):c.383del
|
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001303256.3(MORC2):c.996G>T (p.Leu332Phe)
|
rs769996010
|
|
NM_001365088.1(SLC12A6):c.1843G>C (p.Ala615Pro)
|
|
|
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)
|
rs397509412
|
|
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile)
|
rs2048613478
|
|
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu)
|
rs866647743
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly)
|
rs1595623556
|
|
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571
|
|
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
|
rs768987322
|
|
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1])
|
rs2030881306
|
|
NM_006158.5(NEFL):c.259C>T (p.Arg87Cys)
|
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_014874.4(MFN2):c.1160+1G>A
|
rs1553144086
|
|
NM_014874.4(MFN2):c.494A>G (p.His165Arg)
|
rs863224970
|
|
NM_014874.4(MFN2):c.695C>G (p.Thr232Ser)
|
rs1569842764
|
|
NM_014874.4(MFN2):c.781G>C (p.Asp261His)
|
rs2100832682
|
|
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)
|
rs119103264
|
|
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn)
|
rs1808861763
|
|
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln)
|
rs1289139464
|
|
NM_022489.4(INF2):c.2406C>G (p.His802Gln)
|
rs1453244138
|
|
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)
|
rs1580900758
|
|
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter)
|
rs1166873755
|
|
NM_030962.4(SBF2):c.2329del (p.Trp777fs)
|
|
|