|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
|
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)
|
rs139373929
|
0.00024
|
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
|
NM_016011.5(MECR):c.830+2dup
|
rs756421370
|
0.00006
|
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
|
NM_000182.5(HADHA):c.68-414A>G
|
rs1045384430
|
0.00001
|
|
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)
|
rs760851100
|
0.00001
|
|
NC_000016.10:g.78152047_78188346del
|
|
|
|
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln)
|
rs1555358380
|
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
|
NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)
|
rs1057521634
|
|
|
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)
|
rs1057524820
|
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
|
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)
|
rs864321670
|
|
|
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)
|
rs1553798675
|
|
|
NM_004408.4(DNM1):c.1493+5G>A
|
rs752004261
|
|
|
NM_004937.3(CTNS):c.479del (p.Phe160fs)
|
rs2076150607
|
|
|
NM_004937.3(CTNS):c.62-2864_225+2278del
|
|
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
|
NM_016011.4(MECR):c.-39G>C
|
rs749435497
|
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
|
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)
|
rs374052333
|
|
|
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)
|
rs1553770577
|
|
|
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter)
|
rs201395198
|
|
|
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)
|
|
|
|
NM_177972.3(TUB):c.1194_1195del (p.Arg398fs)
|
rs727502810
|
|
|
NM_177972.3(TUB):c.1215+1G>A
|
rs1589996458
|
|
|
Single allele
|
|
|