NM_001358921.2(COQ2):c.744T>C (p.Asp248=)
|
rs6535454
|
0.74903
|
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)
|
rs6818847
|
0.62431
|
NM_001358921.2(COQ2):c.840C>T (p.Ser280=)
|
rs1129617
|
0.22636
|
NM_020381.4(PDSS2):c.876+48C>T
|
rs3734677
|
0.16221
|
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=)
|
rs141431344
|
0.00725
|
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=)
|
rs183012002
|
0.00375
|
NM_020381.4(PDSS2):c.431+17C>T
|
rs192411971
|
0.00141
|
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)
|
rs35555197
|
0.00130
|
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)
|
rs550949678
|
0.00102
|
NM_020381.4(PDSS2):c.1009-14C>G
|
rs188095740
|
0.00084
|
NM_001358921.2(COQ2):c.651G>A (p.Ala217=)
|
rs199581249
|
0.00076
|
NM_001358921.2(COQ2):c.1044C>T (p.Val348=)
|
rs6834269
|
0.00057
|
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser)
|
rs146983090
|
0.00054
|
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp)
|
rs886059669
|
0.00048
|
NM_001358921.2(COQ2):c.625T>C (p.Leu209=)
|
rs367968754
|
0.00043
|
NM_020381.4(PDSS2):c.877-20C>T
|
rs138097933
|
0.00043
|
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)
|
rs767013819
|
0.00029
|
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)
|
rs201388841
|
0.00027
|
NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp)
|
rs376396608
|
0.00016
|
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln)
|
rs200217650
|
0.00015
|
NM_001358921.2(COQ2):c.-23C>G
|
rs368891722
|
0.00013
|
NM_020381.4(PDSS2):c.702+16G>A
|
rs200017192
|
0.00012
|
NM_020381.4(PDSS2):c.81G>A (p.Pro27=)
|
rs754281828
|
0.00010
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr)
|
rs372949213
|
0.00007
|
NM_001358921.2(COQ2):c.232A>G (p.Met78Val)
|
rs778094136
|
0.00006
|
NM_020381.4(PDSS2):c.1002C>T (p.Ile334=)
|
rs375546963
|
0.00006
|
NM_020381.4(PDSS2):c.1008+17C>T
|
rs760414222
|
0.00006
|
NM_020381.4(PDSS2):c.1096C>T (p.Arg366Cys)
|
rs370257390
|
0.00006
|
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu)
|
rs374567167
|
0.00005
|
NM_020381.4(PDSS2):c.50C>T (p.Ser17Leu)
|
rs373021095
|
0.00005
|
NM_015697.9(COQ2):c.34G>C (p.Gly12Arg)
|
rs981288139
|
0.00004
|
NM_015697.9(COQ2):c.57G>T (p.Gln19His)
|
rs764905680
|
0.00004
|
NM_015697.9(COQ2):c.94G>A (p.Ala32Thr)
|
rs770651250
|
0.00004
|
NM_001358921.2(COQ2):c.368G>A (p.Arg123His)
|
rs752363398
|
0.00003
|
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)
|
rs121918231
|
0.00003
|
NM_001358921.2(COQ2):c.912C>T (p.Tyr304=)
|
rs764986740
|
0.00003
|
NM_020381.4(PDSS2):c.382G>A (p.Val128Met)
|
rs201645466
|
0.00003
|
NM_001358921.2(COQ2):c.182C>T (p.Ala61Val)
|
rs1233395596
|
0.00002
|
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)
|
rs121918233
|
0.00002
|
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys)
|
rs553681443
|
0.00002
|
NM_001358921.2(COQ2):c.831G>A (p.Pro277=)
|
rs757390151
|
0.00002
|
NM_001358921.2(COQ2):c.885G>A (p.Val295=)
|
rs533968602
|
0.00002
|
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys)
|
rs566845170
|
0.00002
|
NM_015697.9(COQ2):c.115A>T (p.Thr39Ser)
|
rs369705200
|
0.00002
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
NM_020381.4(PDSS2):c.348G>T (p.Val116=)
|
rs779485875
|
0.00002
|
NM_001358921.2(COQ2):c.165G>C (p.Gln55His)
|
rs747231025
|
0.00001
|
NM_001358921.2(COQ2):c.253+4A>T
|
rs907149421
|
0.00001
|
NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu)
|
rs1208562247
|
0.00001
|
NM_001358921.2(COQ2):c.762+14C>A
|
rs587780909
|
0.00001
|
NM_001358921.2(COQ2):c.89C>T (p.Ala30Val)
|
rs942463668
|
0.00001
|
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser)
|
rs771166601
|
0.00001
|
NM_015697.9(COQ2):c.83C>A (p.Ala28Glu)
|
rs371993270
|
0.00001
|
NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter)
|
rs750925071
|
0.00001
|
NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu)
|
rs766591347
|
0.00001
|
NM_020381.4(PDSS2):c.488G>A (p.Arg163His)
|
rs142617068
|
0.00001
|
NM_020381.4(PDSS2):c.500A>G (p.Asn167Ser)
|
rs201218141
|
0.00001
|
NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu)
|
rs372737420
|
0.00001
|
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter)
|
rs118203955
|
0.00001
|
NM_001195248.2(APTX):c.-5+2T>G
|
rs1563993041
|
|
NM_001358921.2(COQ2):c.-27C>T
|
|
|
NM_001358921.2(COQ2):c.-2C>G
|
rs573669024
|
|
NM_001358921.2(COQ2):c.1047del (p.Asn351fs)
|
rs750710187
|
|
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del)
|
rs765403087
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn)
|
rs1577993720
|
|
NM_001358921.2(COQ2):c.227G>A (p.Arg76His)
|
rs863223935
|
|
NM_001358921.2(COQ2):c.254-2A>T
|
|
|
NM_001358921.2(COQ2):c.298G>A (p.Ala100Thr)
|
|
|
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr)
|
rs1577986966
|
|
NM_001358921.2(COQ2):c.542+12G>A
|
rs369421547
|
|
NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg)
|
rs1161445886
|
|
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter)
|
rs2126177139
|
|
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)
|
rs121918230
|
|
NM_001358921.2(COQ2):c.762+1G>A
|
|
|
NM_001358921.2(COQ2):c.762+1G>T
|
rs767624218
|
|
NM_001358921.2(COQ2):c.797C>G (p.Ser266Ter)
|
|
|
NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)
|
|
|
NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln)
|
rs1397649685
|
|
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys)
|
rs752575160
|
|
NM_015697.9(COQ2):c.48dup (p.Ala17fs)
|
rs767298430
|
|
NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)
|
|
|
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)
|
rs112033303
|
|
NM_015697.9(COQ2):c.97C>T (p.His33Tyr)
|
rs1735431555
|
|
NM_020247.5(COQ8A):c.*72dup
|
rs1558212305
|
|
NM_020247.5(COQ8A):c.280_284del (p.Ser95fs)
|
rs1658479678
|
|
NM_020381.4(PDSS2):c.1042-1G>A
|
|
|
NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)
|
|
|
NM_020381.4(PDSS2):c.1134C>T (p.Ser378=)
|
rs543231659
|
|
NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp)
|
rs1236270228
|
|
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs)
|
rs782439454
|
|
NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)
|
|
|
NM_020381.4(PDSS2):c.837G>A (p.Met279Ile)
|
rs753476156
|
|