NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_145261.4(DNAJC19):c.300del (p.Ala101fs)
|
rs587777224
|
0.00022
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)
|
rs786205138
|
0.00003
|
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)
|
rs200032855
|
0.00003
|
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)
|
rs121434636
|
0.00003
|
NM_001698.3(AUH):c.80del (p.Ser27fs)
|
rs730880310
|
0.00003
|
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
|
rs529232938
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)
|
rs1300848445
|
0.00001
|
NM_001001563.5(TIMM50):c.341G>A (p.Arg114Gln)
|
rs778355943
|
0.00001
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
NM_001698.3(AUH):c.263-2A>G
|
rs730880311
|
0.00001
|
NM_001698.3(AUH):c.943-2A>G
|
rs730880312
|
0.00001
|
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln)
|
rs767006508
|
0.00001
|
NM_145261.4(DNAJC19):c.130-1G>C
|
rs137854888
|
0.00001
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NG_008017.1:g.?_(11043_41520)del
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>C
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)
|
rs104894941
|
|
NM_000116.5(TAFAZZIN):c.239-1G>A
|
rs1603377590
|
|
NM_000116.5(TAFAZZIN):c.239-1G>C
|
rs1603377590
|
|
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.284+110G>A
|
rs1603377747
|
|
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
|
rs104894937
|
|
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)
|
rs2148211636
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)
|
rs1603381671
|
|
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)
|
rs2148212610
|
|
NM_000116.5(TAFAZZIN):c.647-1G>C
|
rs587776741
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala)
|
rs776019250
|
|
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter)
|
rs35135520
|
|
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)
|
rs1244226820
|
|
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser)
|
rs797044891
|
|
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)
|
rs386833777
|
|
NM_001081.4(CUBN):c.3329+1G>T
|
rs1205598688
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)
|
rs2131820786
|
|
NM_001258392.3(CLPB):c.1190C>T (p.Pro397Leu)
|
rs2135500838
|
|
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
|
|
|
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)
|
rs2135485868
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
NM_001258392.3(CLPB):c.1595del (p.Ile532fs)
|
rs876657402
|
|
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val)
|
rs748010262
|
|
NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys)
|
|
|
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter)
|
rs786205139
|
|
NM_001698.3(AUH):c.559G>A (p.Gly187Ser)
|
rs387906755
|
|
NM_001698.3(AUH):c.650G>A (p.Gly217Asp)
|
rs387906756
|
|
NM_001698.3(AUH):c.895-1G>A
|
rs730880309
|
|
NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs)
|
rs1057519080
|
|
NM_013247.5(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer)
|
rs1057519082
|
|
NM_013247.5(HTRA2):c.906+1G>C
|
rs1057519081
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)
|
rs80356526
|
|
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)
|
rs1969907819
|
|
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)
|
rs28937899
|
|
NM_032861.4(SERAC1):c.1167_1170del
|
rs772296795
|
|
NM_032861.4(SERAC1):c.1403+1G>C
|
rs1131690799
|
|
NM_032861.4(SERAC1):c.1432CTT[1] (p.Leu479del)
|
rs1199625391
|
|
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)
|
rs1554261079
|
|
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs)
|
rs767780913
|
|
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)
|
rs761964407
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_032861.4(SERAC1):c.91+6T>C
|
rs1554265452
|
|