NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)
|
rs142117467
|
0.00044
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00024
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile)
|
rs200834352
|
0.00009
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala)
|
rs927119938
|
0.00002
|
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)
|
rs1064793139
|
0.00001
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
|
rs1383117534
|
0.00001
|
NM_001723.7(DST):c.6289A>G (p.Thr2097Ala)
|
rs373440035
|
0.00001
|
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)
|
rs761789207
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu)
|
rs370613184
|
0.00001
|
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn)
|
rs1558154208
|
|
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe)
|
rs863224449
|
|
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)
|
rs772536764
|
|
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)
|
rs1324125372
|
|
NM_004082.5(DCTN1):c.279+1G>T
|
rs1393363759
|
|
NM_006070.6(TFG):c.826T>C (p.Tyr276His)
|
rs1559726842
|
|
NM_014874.4(MFN2):c.272T>G (p.Val91Gly)
|
rs1569816262
|
|
NM_014874.4(MFN2):c.475-2A>G
|
rs1557522794
|
|
NM_014874.4(MFN2):c.572T>C (p.Leu191Pro)
|
rs879254288
|
|
NM_020631.6(PLEKHG5):c.773C>T (p.Pro258Leu)
|
rs910474236
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln)
|
rs1184021143
|
|
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)
|
rs1390567933
|
|