NM_025136.4(OPA3):c.-38A>G
|
rs45527139
|
0.02241
|
NM_025136.4(OPA3):c.*6394G>A
|
rs151030695
|
0.02197
|
NM_013247.5(HTRA2):c.480C>G (p.Ala160=)
|
rs2231248
|
0.01771
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_025136.4(OPA3):c.*7085A>G
|
rs67373144
|
0.01608
|
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val)
|
rs111265129
|
0.01345
|
NM_025136.4(OPA3):c.*1340C>T
|
rs12104391
|
0.01224
|
NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp)
|
rs35135520
|
0.01198
|
NM_025136.4(OPA3):c.*2469G>A
|
rs115566341
|
0.01165
|
NM_025136.4(OPA3):c.*1760C>T
|
rs75401979
|
0.01143
|
NM_025136.4(OPA3):c.*4794C>T
|
rs114917731
|
0.01114
|
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)
|
rs34270473
|
0.01029
|
NM_000116.5(TAFAZZIN):c.-88G>C
|
rs113130344
|
0.01021
|
NM_025136.4(OPA3):c.*3222C>T
|
rs73568980
|
0.00971
|
NM_025136.4(OPA3):c.*6294A>C
|
rs114655581
|
0.00810
|
NM_032861.4(SERAC1):c.1684+168T>C
|
rs141960153
|
0.00719
|
NM_032861.4(SERAC1):c.1684+209T>C
|
rs148162521
|
0.00718
|
NM_025136.4(OPA3):c.*1855T>C
|
rs146599259
|
0.00697
|
NM_025136.4(OPA3):c.*5905G>A
|
rs116705343
|
0.00675
|
NM_025136.4(OPA3):c.*2696C>G
|
rs148705681
|
0.00585
|
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu)
|
rs117128556
|
0.00569
|
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp)
|
rs144360241
|
0.00541
|
NM_025136.4(OPA3):c.*362T>C
|
rs73942919
|
0.00539
|
NM_001001563.5(TIMM50):c.598-15C>T
|
rs45611439
|
0.00486
|
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)
|
rs201574732
|
0.00477
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)
|
rs148869805
|
0.00464
|
NM_001081.4(CUBN):c.2791+9_2791+16del
|
rs375796983
|
0.00423
|
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=)
|
rs116763934
|
0.00417
|
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)
|
rs114443105
|
0.00411
|
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)
|
rs116173262
|
0.00410
|
NM_001698.3(AUH):c.927A>G (p.Glu309=)
|
rs78739693
|
0.00399
|
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser)
|
rs142581908
|
0.00371
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=)
|
rs141937843
|
0.00363
|
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=)
|
rs140184467
|
0.00358
|
NM_001081.4(CUBN):c.*769G>A
|
rs149618660
|
0.00335
|
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu)
|
rs147194699
|
0.00309
|
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile)
|
rs145872906
|
0.00305
|
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val)
|
rs76789390
|
0.00304
|
NM_001081.4(CUBN):c.2103A>G (p.Thr701=)
|
rs143693723
|
0.00290
|
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=)
|
rs144472791
|
0.00255
|
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)
|
rs138545198
|
0.00253
|
NM_001081.4(CUBN):c.1470G>A (p.Pro490=)
|
rs143255616
|
0.00243
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu)
|
rs147752521
|
0.00217
|
NM_001081.4(CUBN):c.1530+12A>C
|
rs138936163
|
0.00212
|
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)
|
rs147449194
|
0.00181
|
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)
|
rs115888073
|
0.00169
|
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=)
|
rs150663813
|
0.00159
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His)
|
rs149463053
|
0.00151
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
NM_001081.4(CUBN):c.349-8A>G
|
rs188559699
|
0.00129
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
|
rs116118397
|
0.00110
|
NM_032861.4(SERAC1):c.1137A>G (p.Val379=)
|
rs115846131
|
0.00100
|
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala)
|
rs146099754
|
0.00096
|
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)
|
rs182512508
|
0.00086
|
NM_001081.4(CUBN):c.5733+16C>T
|
rs139579256
|
0.00080
|
NM_025136.4(OPA3):c.249G>C (p.Leu83=)
|
rs199692583
|
0.00080
|
NM_001081.4(CUBN):c.2110+18T>C
|
rs117028815
|
0.00075
|
NM_001698.3(AUH):c.140C>T (p.Pro47Leu)
|
rs200564356
|
0.00068
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
NM_001081.4(CUBN):c.8410+18T>C
|
rs186604664
|
0.00059
|
NM_001081.4(CUBN):c.2016G>A (p.Pro672=)
|
rs148107237
|
0.00052
|
NM_001258392.3(CLPB):c.1560+11T>C
|
rs113954132
|
0.00049
|
NM_001258392.3(CLPB):c.723C>T (p.His241=)
|
rs368930954
|
0.00048
|
NM_001258392.3(CLPB):c.455+8G>C
|
rs200993434
|
0.00044
|
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=)
|
rs373886730
|
0.00044
|
NM_000116.5(TAFAZZIN):c.542-20C>T
|
rs373841640
|
0.00041
|
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln)
|
rs143400113
|
0.00041
|
NM_001081.4(CUBN):c.9826+15G>A
|
rs369467797
|
0.00040
|
NM_001258392.3(CLPB):c.159G>A (p.Gly53=)
|
rs146260335
|
0.00040
|
NM_032861.4(SERAC1):c.1308+7G>A
|
rs201873667
|
0.00040
|
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=)
|
rs143482511
|
0.00039
|
NM_001258392.3(CLPB):c.776-10_776-8del
|
rs572621494
|
0.00037
|
NM_000116.5(TAFAZZIN):c.*396C>T
|
rs144283894
|
0.00036
|
NM_001258392.3(CLPB):c.874-12C>G
|
rs201936481
|
0.00036
|
NM_025136.4(OPA3):c.143-7C>T
|
rs375551151
|
0.00036
|
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=)
|
rs114493681
|
0.00036
|
NM_001081.4(CUBN):c.7533+17G>A
|
rs374394291
|
0.00035
|
NM_025136.4(OPA3):c.143-14C>T
|
rs368939051
|
0.00034
|
NM_001081.4(CUBN):c.5424G>T (p.Val1808=)
|
rs148649437
|
0.00032
|
NM_001698.3(AUH):c.807G>A (p.Arg269=)
|
rs145208407
|
0.00032
|
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)
|
rs370784621
|
0.00031
|
NM_001258392.3(CLPB):c.1164C>T (p.His388=)
|
rs202009794
|
0.00031
|
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)
|
rs141458508
|
0.00031
|
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=)
|
rs113941731
|
0.00030
|
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)
|
rs140160866
|
0.00030
|
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu)
|
rs146588273
|
0.00029
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
|
rs191787640
|
0.00027
|
NM_001258392.3(CLPB):c.693C>T (p.Arg231=)
|
rs149932193
|
0.00027
|
NM_032861.4(SERAC1):c.1828+10C>G
|
rs374374755
|
0.00027
|
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu)
|
rs200537125
|
0.00026
|
NM_001258392.3(CLPB):c.465A>G (p.Ser155=)
|
rs138171096
|
0.00026
|
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser)
|
rs767062135
|
0.00023
|
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=)
|
rs189314395
|
0.00022
|
NM_001081.4(CUBN):c.813C>T (p.Pro271=)
|
rs139348777
|
0.00021
|
NM_001081.4(CUBN):c.9455-13T>C
|
rs374390875
|
0.00021
|
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
|
rs141970893
|
0.00020
|
NM_000116.5(TAFAZZIN):c.584-7del
|
rs782192927
|
0.00019
|
NM_001081.4(CUBN):c.10038C>T (p.His3346=)
|
rs113079734
|
0.00019
|
NM_001081.4(CUBN):c.5926+5G>A
|
rs143301088
|
0.00019
|
NM_001258392.3(CLPB):c.1425C>T (p.His475=)
|
rs756497518
|
0.00019
|
NM_001698.3(AUH):c.262+14G>A
|
rs200386272
|
0.00019
|
NM_001698.3(AUH):c.330+13A>T
|
rs374741033
|
0.00019
|
NM_001258392.3(CLPB):c.966C>T (p.Ser322=)
|
rs371562971
|
0.00018
|
NM_001081.4(CUBN):c.7000+15A>T
|
rs556690868
|
0.00017
|
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu)
|
rs201888844
|
0.00016
|
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=)
|
rs149569558
|
0.00016
|
NM_025136.4(OPA3):c.33G>T (p.Leu11=)
|
rs148805518
|
0.00016
|
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln)
|
rs376891597
|
0.00016
|
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=)
|
rs750798030
|
0.00015
|
NM_001081.4(CUBN):c.*266C>T
|
rs374059721
|
0.00014
|
NM_001081.4(CUBN):c.1112-12A>G
|
rs762175932
|
0.00014
|
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met)
|
rs141420691
|
0.00014
|
NM_001081.4(CUBN):c.2922C>T (p.Phe974=)
|
rs201802902
|
0.00014
|
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=)
|
rs370685424
|
0.00014
|
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln)
|
rs770932848
|
0.00014
|
NM_145261.4(DNAJC19):c.3+16C>T
|
rs367841424
|
0.00014
|
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
|
rs370581324
|
0.00011
|
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=)
|
rs139236388
|
0.00011
|
NM_032861.4(SERAC1):c.128+8G>A
|
rs766928057
|
0.00011
|
NM_032861.4(SERAC1):c.1404-11G>A
|
rs371357530
|
0.00011
|
NM_032861.4(SERAC1):c.1413T>C (p.Ile471=)
|
rs144641679
|
0.00011
|
NM_032861.4(SERAC1):c.552C>T (p.Ser184=)
|
rs140671987
|
0.00011
|
NM_032861.4(SERAC1):c.711A>G (p.Glu237=)
|
rs144125721
|
0.00011
|
NM_145261.4(DNAJC19):c.129+15A>C
|
rs201697391
|
0.00011
|
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg)
|
rs201484266
|
0.00010
|
NM_001081.4(CUBN):c.516C>T (p.Asn172=)
|
rs576450214
|
0.00010
|
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys)
|
rs114624250
|
0.00010
|
NM_001081.4(CUBN):c.2961C>T (p.Asn987=)
|
rs148712017
|
0.00009
|
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=)
|
rs140958543
|
0.00009
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
NM_030813.6(CLPB):c.736+2T>C
|
rs201350869
|
0.00009
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
0.00008
|
NM_001017989.3(OPA3):c.406T>C (p.Leu136=)
|
rs535476484
|
0.00008
|
NM_032861.4(SERAC1):c.1403+11C>T
|
rs369586400
|
0.00008
|
NM_001258392.3(CLPB):c.921C>T (p.Phe307=)
|
rs561993207
|
0.00007
|
NM_145261.4(DNAJC19):c.280+2dup
|
rs756616792
|
0.00007
|
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)
|
rs141773967
|
0.00006
|
NM_001081.4(CUBN):c.5210-7C>G
|
rs760324864
|
0.00006
|
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=)
|
rs200950385
|
0.00006
|
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
|
rs377372785
|
0.00006
|
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=)
|
rs147296630
|
0.00006
|
NM_001698.3(AUH):c.656-8C>T
|
rs199879150
|
0.00006
|
NM_001698.3(AUH):c.720G>A (p.Ala240=)
|
rs780040124
|
0.00006
|
NM_001698.3(AUH):c.843+13A>G
|
rs747375365
|
0.00006
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=)
|
rs768720429
|
0.00005
|
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=)
|
rs547364848
|
0.00005
|
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=)
|
rs199965220
|
0.00005
|
NM_001258392.3(CLPB):c.582C>T (p.Asn194=)
|
rs200063494
|
0.00005
|
NM_001258392.3(CLPB):c.651G>C (p.Leu217=)
|
rs375214732
|
0.00005
|
NM_001698.3(AUH):c.795C>T (p.Asp265=)
|
rs761573002
|
0.00005
|
NM_030813.6(CLPB):c.660C>T (p.Asp220=)
|
rs759358526
|
0.00005
|
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=)
|
rs782471244
|
0.00004
|
NM_000116.5(TAFAZZIN):c.583+10G>A
|
rs370536414
|
0.00004
|
NM_000116.5(TAFAZZIN):c.584-7T>C
|
rs397515745
|
0.00004
|
NM_001081.4(CUBN):c.3672+20C>T
|
rs762191994
|
0.00004
|
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=)
|
rs539618523
|
0.00004
|
NM_001081.4(CUBN):c.6462+19C>G
|
rs372356491
|
0.00004
|
NM_001081.4(CUBN):c.6822-6C>T
|
rs762758607
|
0.00004
|
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=)
|
rs538912422
|
0.00004
|
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
|
rs758906536
|
0.00004
|
NM_001258392.3(CLPB):c.543-20_543-18del
|
rs759265435
|
0.00004
|
NM_001258392.3(CLPB):c.646+7371C>T
|
rs369768699
|
0.00004
|
NM_001698.3(AUH):c.117G>C (p.Ser39=)
|
rs759828827
|
0.00004
|
NM_001698.3(AUH):c.330+9A>G
|
rs145402420
|
0.00004
|
NM_001698.3(AUH):c.844-20T>C
|
rs769924401
|
0.00004
|
NM_025136.4(OPA3):c.303C>T (p.Tyr101=)
|
rs752010426
|
0.00004
|
NM_032861.4(SERAC1):c.355+10C>T
|
rs760497677
|
0.00004
|
NM_032861.4(SERAC1):c.660A>G (p.Gln220=)
|
rs776026202
|
0.00004
|
NM_032861.4(SERAC1):c.92-16T>C
|
rs201656768
|
0.00004
|
NM_032861.4(SERAC1):c.999T>C (p.Ser333=)
|
rs746668292
|
0.00004
|
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)
|
rs141007488
|
0.00004
|
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=)
|
rs143525004
|
0.00003
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)
|
rs397515743
|
0.00003
|
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
|
rs150583937
|
0.00003
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
NM_001081.4(CUBN):c.*380T>C
|
rs188873973
|
0.00003
|
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=)
|
rs199509575
|
0.00003
|
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
|
rs1336037926
|
0.00003
|
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
|
rs1004490311
|
0.00003
|
NM_001258392.3(CLPB):c.249C>T (p.Leu83=)
|
rs200845330
|
0.00003
|
NM_001258392.3(CLPB):c.543-12G>C
|
rs750871760
|
0.00003
|
NM_001258392.3(CLPB):c.990G>A (p.Ala330=)
|
rs765172842
|
0.00003
|
NM_001698.3(AUH):c.506-9C>T
|
rs537751591
|
0.00003
|
NM_001698.3(AUH):c.657G>A (p.Gly219=)
|
rs141110052
|
0.00003
|
NM_013247.5(HTRA2):c.618C>G (p.Val206=)
|
rs186272815
|
0.00003
|
NM_025136.4(OPA3):c.39C>T (p.Tyr13=)
|
rs374843726
|
0.00003
|
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=)
|
rs774371194
|
0.00003
|
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)
|
rs368329470
|
0.00002
|
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
|
rs781986219
|
0.00002
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)
|
rs782716787
|
0.00002
|
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=)
|
rs781792950
|
0.00002
|
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=)
|
rs199868206
|
0.00002
|
NM_001258392.3(CLPB):c.1786-6C>T
|
rs191389918
|
0.00002
|
NM_001698.3(AUH):c.198C>T (p.Gly66=)
|
rs1268067238
|
0.00002
|
NM_001698.3(AUH):c.263-11C>T
|
rs759369259
|
0.00002
|
NM_001698.3(AUH):c.655+15C>T
|
rs781269099
|
0.00002
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
NM_025136.4(OPA3):c.142+16A>G
|
rs1969904812
|
0.00002
|
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
|
rs763315476
|
0.00002
|
NM_025136.4(OPA3):c.333G>A (p.Lys111=)
|
rs761583193
|
0.00002
|
NM_025136.4(OPA3):c.336G>A (p.Glu112=)
|
rs146349367
|
0.00002
|
NM_025136.4(OPA3):c.351T>C (p.Ala117=)
|
rs760489108
|
0.00002
|
NM_025136.4(OPA3):c.519A>G (p.Ala173=)
|
rs1200579847
|
0.00002
|
NM_025136.4(OPA3):c.528G>A (p.Ala176=)
|
rs752240099
|
0.00002
|
NM_025136.4(OPA3):c.540G>A (p.Ter180=)
|
rs774281852
|
0.00002
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
NM_032861.4(SERAC1):c.1684+7C>A
|
rs765831183
|
0.00002
|
NM_032861.4(SERAC1):c.266-11A>G
|
rs574469098
|
0.00002
|
NM_145261.4(DNAJC19):c.210-17T>C
|
rs750700018
|
0.00002
|
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=)
|
rs367996239
|
0.00002
|
NM_000116.5(TAFAZZIN):c.110-6C>G
|
rs782099193
|
0.00001
|
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
|
rs782470471
|
0.00001
|
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=)
|
rs782223969
|
0.00001
|
NM_000116.5(TAFAZZIN):c.238+11C>G
|
rs1163786089
|
0.00001
|
NM_000116.5(TAFAZZIN):c.461-16G>C
|
rs782759146
|
0.00001
|
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=)
|
rs1603381303
|
0.00001
|
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
|
rs782498534
|
0.00001
|
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
|
rs781846964
|
0.00001
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=)
|
rs372610945
|
0.00001
|
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)
|
rs201046790
|
0.00001
|
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)
|
rs782123597
|
0.00001
|
NM_000116.5(TAFAZZIN):c.700-5C>T
|
rs782731479
|
0.00001
|
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=)
|
rs1042313041
|
0.00001
|
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
|
rs368990588
|
0.00001
|
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=)
|
rs782273950
|
0.00001
|
NM_001017989.3(OPA3):c.534C>T (p.Ser178=)
|
rs1162879805
|
0.00001
|
NM_001081.4(CUBN):c.1644T>C (p.Phe548=)
|
rs559998744
|
0.00001
|
NM_001081.4(CUBN):c.1704C>G (p.Leu568=)
|
rs752698463
|
0.00001
|
NM_001081.4(CUBN):c.2997A>G (p.Thr999=)
|
rs762336429
|
0.00001
|
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=)
|
rs577984421
|
0.00001
|
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=)
|
rs754694753
|
0.00001
|
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=)
|
rs754292924
|
0.00001
|
NM_001258392.3(CLPB):c.1067-4C>A
|
rs1311832888
|
0.00001
|
NM_001258392.3(CLPB):c.1123-14T>C
|
rs761493633
|
0.00001
|
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=)
|
rs536717344
|
0.00001
|
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=)
|
rs539751194
|
0.00001
|
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
|
rs776452795
|
0.00001
|
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
|
rs1315933008
|
0.00001
|
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=)
|
rs747632383
|
0.00001
|
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)
|
rs750997439
|
0.00001
|
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=)
|
rs752870447
|
0.00001
|
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
|
rs571871217
|
0.00001
|
NM_001258392.3(CLPB):c.1542G>A (p.Val514=)
|
rs935570035
|
0.00001
|
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=)
|
rs752634197
|
0.00001
|
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=)
|
rs200970392
|
0.00001
|
NM_001258392.3(CLPB):c.1681-14C>T
|
rs746122828
|
0.00001
|
NM_001258392.3(CLPB):c.1740C>T (p.Val580=)
|
rs759628306
|
0.00001
|
NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn)
|
rs776835116
|
0.00001
|
NM_001258392.3(CLPB):c.1785+7A>G
|
rs745442561
|
0.00001
|
NM_001258392.3(CLPB):c.1785+8C>T
|
rs1446394124
|
0.00001
|
NM_001258392.3(CLPB):c.1786-5G>A
|
rs756715990
|
0.00001
|
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
|
rs757217501
|
0.00001
|
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=)
|
rs894319387
|
0.00001
|
NM_001258392.3(CLPB):c.261T>C (p.Thr87=)
|
rs1427118335
|
0.00001
|
NM_001258392.3(CLPB):c.39G>A (p.Ala13=)
|
rs572605602
|
0.00001
|
NM_001258392.3(CLPB):c.531C>T (p.Asn177=)
|
rs771786059
|
0.00001
|
NM_001258392.3(CLPB):c.57G>C (p.Arg19=)
|
rs112362953
|
0.00001
|
NM_001258392.3(CLPB):c.58C>T (p.Leu20=)
|
rs150558227
|
0.00001
|
NM_001258392.3(CLPB):c.646+13T>C
|
rs370275901
|
0.00001
|
NM_001258392.3(CLPB):c.647-6C>T
|
rs1377454533
|
0.00001
|
NM_001258392.3(CLPB):c.771T>C (p.Asp257=)
|
rs143460015
|
0.00001
|
NM_001258392.3(CLPB):c.775+13G>A
|
rs746972083
|
0.00001
|
NM_001258392.3(CLPB):c.817T>C (p.Leu273=)
|
rs1950189871
|
0.00001
|
NM_001258392.3(CLPB):c.849G>A (p.Lys283=)
|
rs759743960
|
0.00001
|
NM_001258392.3(CLPB):c.873+12G>A
|
rs199805574
|
0.00001
|
NM_001698.3(AUH):c.222G>A (p.Glu74=)
|
rs1587943178
|
0.00001
|
NM_001698.3(AUH):c.331-8C>T
|
rs758271092
|
0.00001
|
NM_001698.3(AUH):c.798G>A (p.Ala266=)
|
rs760509061
|
0.00001
|
NM_001698.3(AUH):c.864G>A (p.Val288=)
|
rs199569104
|
0.00001
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
NM_025136.4(OPA3):c.120T>C (p.Tyr40=)
|
rs752657560
|
0.00001
|
NM_025136.4(OPA3):c.142+10A>T
|
rs539476253
|
0.00001
|
NM_025136.4(OPA3):c.143-6C>T
|
rs760030315
|
0.00001
|
NM_025136.4(OPA3):c.143-9C>G
|
rs1342185871
|
0.00001
|
NM_025136.4(OPA3):c.222G>A (p.Glu74=)
|
rs1241138154
|
0.00001
|
NM_025136.4(OPA3):c.237G>C (p.Leu79=)
|
rs943536843
|
0.00001
|
NM_025136.4(OPA3):c.252G>A (p.Leu84=)
|
rs757297634
|
0.00001
|
NM_025136.4(OPA3):c.255C>T (p.Gly85=)
|
rs951025429
|
0.00001
|
NM_025136.4(OPA3):c.354C>T (p.Ala118=)
|
rs745763712
|
0.00001
|
NM_025136.4(OPA3):c.381C>T (p.Gly127=)
|
rs1405668670
|
0.00001
|
NM_025136.4(OPA3):c.426G>A (p.Ala142=)
|
rs1289276507
|
0.00001
|
NM_025136.4(OPA3):c.441C>G (p.Gly147=)
|
rs1049255184
|
0.00001
|
NM_025136.4(OPA3):c.444C>T (p.Ala148=)
|
rs759536853
|
0.00001
|
NM_025136.4(OPA3):c.453A>G (p.Glu151=)
|
rs1338422249
|
0.00001
|
NM_025136.4(OPA3):c.78T>C (p.Arg26=)
|
rs1372988634
|
0.00001
|
NM_025136.4(OPA3):c.87G>A (p.Glu29=)
|
rs1194417590
|
0.00001
|
NM_032861.4(SERAC1):c.1016-5A>G
|
rs1321114507
|
0.00001
|
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=)
|
rs1219406942
|
0.00001
|
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=)
|
rs1398045297
|
0.00001
|
NM_032861.4(SERAC1):c.1685-12A>G
|
rs1327940001
|
0.00001
|
NM_032861.4(SERAC1):c.285A>G (p.Arg95=)
|
rs752918334
|
0.00001
|
NM_032861.4(SERAC1):c.387T>C (p.His129=)
|
rs781658698
|
0.00001
|
NM_032861.4(SERAC1):c.487+12A>G
|
rs531094036
|
0.00001
|
NM_032861.4(SERAC1):c.525G>A (p.Pro175=)
|
rs774652383
|
0.00001
|
NM_032861.4(SERAC1):c.738+7T>C
|
rs1784954711
|
0.00001
|
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=)
|
rs1400868784
|
0.00001
|
NM_145261.4(DNAJC19):c.129+11G>T
|
rs546533068
|
0.00001
|
NM_145261.4(DNAJC19):c.210-19C>T
|
rs780397593
|
0.00001
|
NM_145261.4(DNAJC19):c.280+16A>T
|
rs773185733
|
0.00001
|
NM_145261.4(DNAJC19):c.348A>G (p.Lys116=)
|
rs771098271
|
0.00001
|
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
|
|
|
NM_000116.5(TAFAZZIN):c.109+15G>A
|
|
|
NM_000116.5(TAFAZZIN):c.109+15del
|
|
|
NM_000116.5(TAFAZZIN):c.109+20G>A
|
|
|
NM_000116.5(TAFAZZIN):c.109+8G>A
|
rs2068315794
|
|
NM_000116.5(TAFAZZIN):c.110-15C>G
|
|
|
NM_000116.5(TAFAZZIN):c.110-19A>C
|
|
|
NM_000116.5(TAFAZZIN):c.110-20G>T
|
|
|
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
|
|
|
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
|
|
|
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
|
|
|
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
|
|
|
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
|
|
|
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
|
|
|
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=)
|
rs1557191148
|
|
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
|
|
|
NM_000116.5(TAFAZZIN):c.238+10C>A
|
|
|
NM_000116.5(TAFAZZIN):c.238+7G>A
|
|
|
NM_000116.5(TAFAZZIN):c.238+9G>C
|
|
|
NM_000116.5(TAFAZZIN):c.239-11C>T
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>G
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>T
|
|
|
NM_000116.5(TAFAZZIN):c.239-18G>A
|
|
|
NM_000116.5(TAFAZZIN):c.239-19A>G
|
|
|
NM_000116.5(TAFAZZIN):c.239-6C>T
|
|
|
NM_000116.5(TAFAZZIN):c.239-6del
|
rs1064794479
|
|
NM_000116.5(TAFAZZIN):c.239-7C>T
|
rs2148190472
|
|
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
|
|
|
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
|
|
|
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
|
|
|
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
|
|
|
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
|
|
|
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
|
|
|
NM_000116.5(TAFAZZIN):c.284+17C>T
|
|
|
NM_000116.5(TAFAZZIN):c.284+8_284+10del
|
|
|
NM_000116.5(TAFAZZIN):c.285-14C>T
|
|
|
NM_000116.5(TAFAZZIN):c.285-5C>T
|
|
|
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
|
rs2148191873
|
|
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
|
|
|
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
|
|
|
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=)
|
rs1569552726
|
|
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
|
|
|
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
|
|
|
NM_000116.5(TAFAZZIN):c.370+11C>T
|
|
|
NM_000116.5(TAFAZZIN):c.370+12del
|
|
|
NM_000116.5(TAFAZZIN):c.370+16A>G
|
|
|
NM_000116.5(TAFAZZIN):c.370+18C>T
|
|
|
NM_000116.5(TAFAZZIN):c.370+19G>A
|
|
|
NM_000116.5(TAFAZZIN):c.371-13C>G
|
rs397515742
|
|
NM_000116.5(TAFAZZIN):c.371-17T>C
|
|
|
NM_000116.5(TAFAZZIN):c.371-19A>T
|
|
|
NM_000116.5(TAFAZZIN):c.371-4G>A
|
|
|
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
|
|
|
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
|
|
|
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>A
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>T
|
|
|
NM_000116.5(TAFAZZIN):c.460+17G>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-13C>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-14C>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-15G>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-18G>A
|
|
|
NM_000116.5(TAFAZZIN):c.461-19A>G
|
|
|
NM_000116.5(TAFAZZIN):c.461-22_461-14del
|
|
|
NM_000116.5(TAFAZZIN):c.461-7C>T
|
|
|
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
|
rs2148210856
|
|
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
|
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
|
|
|
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
|
|
|
NM_000116.5(TAFAZZIN):c.541+10G>A
|
rs1396794207
|
|
NM_000116.5(TAFAZZIN):c.541+13G>A
|
|
|
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
|
|
|
NM_000116.5(TAFAZZIN):c.541+8G>A
|
|
|
NM_000116.5(TAFAZZIN):c.542-6C>T
|
|
|
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
|
|
|
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=)
|
rs36005334
|
|
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
|
|
|
NM_000116.5(TAFAZZIN):c.584-11C>A
|
|
|
NM_000116.5(TAFAZZIN):c.584-15C>G
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>A
|
rs2068583124
|
|
NM_000116.5(TAFAZZIN):c.584-9C>G
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>T
|
|
|
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
|
|
|
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=)
|
rs797040235
|
|
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
|
rs797040235
|
|
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)
|
rs797040235
|
|
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=)
|
rs782162647
|
|
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
|
|
|
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
|
|
|
NM_000116.5(TAFAZZIN):c.646+12G>A
|
|
|
NM_000116.5(TAFAZZIN):c.646+13A>T
|
|
|
NM_000116.5(TAFAZZIN):c.646+15G>A
|
|
|
NM_000116.5(TAFAZZIN):c.646+18G>A
|
|
|
NM_000116.5(TAFAZZIN):c.646+20C>G
|
|
|
NM_000116.5(TAFAZZIN):c.646+7C>T
|
|
|
NM_000116.5(TAFAZZIN):c.646+8T>C
|
|
|
NM_000116.5(TAFAZZIN):c.647-14C>G
|
|
|
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=)
|
rs1603381820
|
|
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
|
|
|
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
|
|
|
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
|
|
|
NM_000116.5(TAFAZZIN):c.699+15C>T
|
|
|
NM_000116.5(TAFAZZIN):c.699+17G>A
|
|
|
NM_000116.5(TAFAZZIN):c.699+19C>T
|
|
|
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
|
|
|
NM_000116.5(TAFAZZIN):c.700-14C>T
|
|
|
NM_000116.5(TAFAZZIN):c.700-19C>G
|
|
|
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
|
|
|
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
|
|
|
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
|
rs2148214484
|
|
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
|
|
|
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=)
|
rs376379156
|
|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
|
|
|
NM_000116.5(TAFAZZIN):c.777+19C>T
|
|
|
NM_000116.5(TAFAZZIN):c.777+20C>T
|
|
|
NM_000116.5(TAFAZZIN):c.778-6C>A
|
|
|
NM_000116.5(TAFAZZIN):c.778-8del
|
|
|
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
|
|
|
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
|
|
|
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
|
|
|
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
|
|
|
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=)
|
rs1603382441
|
|
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
|
|
|
NM_001017989.3(OPA3):c.414G>A (p.Ala138=)
|
rs566450630
|
|
NM_001081.4(CUBN):c.*330G>A
|
rs181630914
|
|
NM_001081.4(CUBN):c.*330G>C
|
rs181630914
|
|
NM_001081.4(CUBN):c.*420C>T
|
rs182278265
|
|
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=)
|
rs544694254
|
|
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr)
|
rs2356590
|
|
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=)
|
rs146319349
|
|
NM_001258392.3(CLPB):c.1033C>T (p.Leu345=)
|
rs1949786030
|
|
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
|
|
|
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=)
|
|
|
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
|
rs1949785389
|
|
NM_001258392.3(CLPB):c.1066+9del
|
rs1204558796
|
|
NM_001258392.3(CLPB):c.1067-11T>C
|
|
|
NM_001258392.3(CLPB):c.1067-20T>A
|
|
|
NM_001258392.3(CLPB):c.1067-20T>C
|
|
|
NM_001258392.3(CLPB):c.1067-9T>C
|
rs372848873
|
|
NM_001258392.3(CLPB):c.1122+11G>A
|
|
|
NM_001258392.3(CLPB):c.1122+16T>G
|
|
|
NM_001258392.3(CLPB):c.1123-13T>C
|
|
|
NM_001258392.3(CLPB):c.1123-18T>C
|
|
|
NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp)
|
|
|
NM_001258392.3(CLPB):c.1134G>A (p.Arg378=)
|
rs890501416
|
|
NM_001258392.3(CLPB):c.1137G>A (p.Leu379=)
|
rs267603176
|
|
NM_001258392.3(CLPB):c.114T>C (p.Thr38=)
|
rs1590948323
|
|
NM_001258392.3(CLPB):c.1167+10G>A
|
|
|
NM_001258392.3(CLPB):c.1167+9T>C
|
|
|
NM_001258392.3(CLPB):c.1168-9T>C
|
rs979851122
|
|
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)
|
|
|
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)
|
|
|
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)
|
|
|
NM_001258392.3(CLPB):c.1299G>C (p.Val433=)
|
|
|
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=)
|
rs146721061
|
|
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
|
|
|
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
|
rs1949536469
|
|
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
|
|
|
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys)
|
rs1555085159
|
|
NM_001258392.3(CLPB):c.1486+7C>T
|
|
|
NM_001258392.3(CLPB):c.1486+8G>A
|
|
|
NM_001258392.3(CLPB):c.1487-17_1487-16del
|
|
|
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=)
|
|
|
NM_001258392.3(CLPB):c.1560+19C>T
|
|
|
NM_001258392.3(CLPB):c.1561-12C>G
|
|
|
NM_001258392.3(CLPB):c.1561-18_1561-12del
|
rs1166987571
|
|
NM_001258392.3(CLPB):c.1561-20C>T
|
|
|
NM_001258392.3(CLPB):c.1561-7C>T
|
|
|
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)
|
|
|
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
|
rs1949510719
|
|
NM_001258392.3(CLPB):c.1680+9G>A
|
|
|
NM_001258392.3(CLPB):c.1681-17T>C
|
|
|
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
|
|
|
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)
|
|
|
NM_001258392.3(CLPB):c.1785+13G>A
|
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
|
|
|
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
|
|
|
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
|
|
|
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=)
|
rs776395544
|
|
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)
|
|
|
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
|
rs2135483654
|
|
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)
|
|
|
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)
|
|
|
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=)
|
rs2135483266
|
|
NM_001258392.3(CLPB):c.213G>A (p.Gly71=)
|
rs1856645490
|
|
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
|
|
|
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
|
|
|
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
|
|
|
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
|
|
|
NM_001258392.3(CLPB):c.34C>T (p.Leu12=)
|
|
|
NM_001258392.3(CLPB):c.352C>T (p.Leu118=)
|
|
|
NM_001258392.3(CLPB):c.369G>T (p.Val123=)
|
|
|
NM_001258392.3(CLPB):c.378C>T (p.Cys126=)
|
|
|
NM_001258392.3(CLPB):c.393G>A (p.Pro131=)
|
rs1856631048
|
|
NM_001258392.3(CLPB):c.403+13T>G
|
|
|
NM_001258392.3(CLPB):c.403+14C>T
|
|
|
NM_001258392.3(CLPB):c.403+15T>G
|
|
|
NM_001258392.3(CLPB):c.403+7_403+8del
|
rs754849241
|
|
NM_001258392.3(CLPB):c.404-14C>T
|
|
|
NM_001258392.3(CLPB):c.404-15C>G
|
|
|
NM_001258392.3(CLPB):c.404-17G>A
|
|
|
NM_001258392.3(CLPB):c.404-17G>C
|
|
|
NM_001258392.3(CLPB):c.447A>G (p.Glu149=)
|
rs1856508277
|
|
NM_001258392.3(CLPB):c.450C>A (p.Val150=)
|
rs2135168122
|
|
NM_001258392.3(CLPB):c.513C>G (p.Leu171=)
|
rs1017640223
|
|
NM_001258392.3(CLPB):c.513C>T (p.Leu171=)
|
|
|
NM_001258392.3(CLPB):c.528C>A (p.Ile176=)
|
rs766521266
|
|
NM_001258392.3(CLPB):c.542+13C>A
|
|
|
NM_001258392.3(CLPB):c.542+15T>C
|
|
|
NM_001258392.3(CLPB):c.542+18A>G
|
|
|
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
|
rs770534948
|
|
NM_001258392.3(CLPB):c.646+14G>C
|
|
|
NM_001258392.3(CLPB):c.646+7247C>T
|
|
|
NM_001258392.3(CLPB):c.646+7257G>A
|
|
|
NM_001258392.3(CLPB):c.646+7367del
|
|
|
NM_001258392.3(CLPB):c.646+7369C>T
|
|
|
NM_001258392.3(CLPB):c.646+7372T>C
|
|
|
NM_001258392.3(CLPB):c.646+7375A>G
|
|
|
NM_001258392.3(CLPB):c.646+7G>A
|
rs1854866433
|
|
NM_001258392.3(CLPB):c.647-10G>A
|
rs2135614152
|
|
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
|
|
|
NM_001258392.3(CLPB):c.663G>A (p.Glu221=)
|
rs571326442
|
|
NM_001258392.3(CLPB):c.669C>T (p.Asp223=)
|
|
|
NM_001258392.3(CLPB):c.759G>A (p.Lys253=)
|
|
|
NM_001258392.3(CLPB):c.775+14T>C
|
|
|
NM_001258392.3(CLPB):c.776-10C>A
|
rs141271919
|
|
NM_001258392.3(CLPB):c.776-13C>A
|
|
|
NM_001258392.3(CLPB):c.776-17C>T
|
rs2135549983
|
|
NM_001258392.3(CLPB):c.776-5G>T
|
rs1253919639
|
|
NM_001258392.3(CLPB):c.780C>T (p.Ala260=)
|
|
|
NM_001258392.3(CLPB):c.795G>A (p.Arg265=)
|
|
|
NM_001258392.3(CLPB):c.816C>T (p.Pro272=)
|
|
|
NM_001258392.3(CLPB):c.837G>A (p.Gly279=)
|
rs2135549683
|
|
NM_001258392.3(CLPB):c.843G>A (p.Val281=)
|
rs2135549653
|
|
NM_001258392.3(CLPB):c.874-10C>G
|
|
|
NM_001258392.3(CLPB):c.874-7C>G
|
|
|
NM_001258392.3(CLPB):c.897T>G (p.Arg299=)
|
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.909G>A (p.Glu303=)
|
|
|
NM_001258392.3(CLPB):c.942G>A (p.Lys314=)
|
|
|
NM_001258392.3(CLPB):c.972C>T (p.Ile324=)
|
|
|
NM_001258392.3(CLPB):c.988+14A>T
|
rs2135527417
|
|
NM_001258392.3(CLPB):c.988+16A>G
|
|
|
NM_001258392.3(CLPB):c.989-4G>A
|
|
|
NM_001258392.3(CLPB):c.99C>A (p.Ser33=)
|
rs1277330273
|
|
NM_001258392.3(CLPB):c.99C>G (p.Ser33=)
|
|
|
NM_001258392.3(CLPB):c.9G>A (p.Gly3=)
|
|
|
NM_001698.3(AUH):c.12G>A (p.Ala4=)
|
|
|
NM_001698.3(AUH):c.12G>C (p.Ala4=)
|
|
|
NM_001698.3(AUH):c.153C>T (p.Ala51=)
|
|
|
NM_001698.3(AUH):c.174C>T (p.Ala58=)
|
|
|
NM_001698.3(AUH):c.231G>C (p.Leu77=)
|
|
|
NM_001698.3(AUH):c.262+10G>A
|
|
|
NM_001698.3(AUH):c.263-10C>T
|
|
|
NM_001698.3(AUH):c.263-15T>C
|
rs1341392485
|
|
NM_001698.3(AUH):c.331-12A>G
|
|
|
NM_001698.3(AUH):c.331-14C>T
|
|
|
NM_001698.3(AUH):c.342T>C (p.Ala114=)
|
|
|
NM_001698.3(AUH):c.498C>T (p.Asn166=)
|
|
|
NM_001698.3(AUH):c.505+18C>G
|
|
|
NM_001698.3(AUH):c.505+7A>G
|
|
|
NM_001698.3(AUH):c.506-6T>C
|
|
|
NM_001698.3(AUH):c.506-8C>T
|
|
|
NM_001698.3(AUH):c.546C>T (p.Leu182=)
|
|
|
NM_001698.3(AUH):c.573T>A (p.Ala191=)
|
|
|
NM_001698.3(AUH):c.598+11A>T
|
rs1406913489
|
|
NM_001698.3(AUH):c.598+9_598+12del
|
rs749186187
|
|
NM_001698.3(AUH):c.599-7G>A
|
|
|
NM_001698.3(AUH):c.655+11T>A
|
|
|
NM_001698.3(AUH):c.656-17T>G
|
|
|
NM_001698.3(AUH):c.66G>C (p.Leu22=)
|
|
|
NM_001698.3(AUH):c.714C>T (p.Phe238=)
|
rs1173204062
|
|
NM_001698.3(AUH):c.738A>G (p.Lys246=)
|
|
|
NM_001698.3(AUH):c.768C>T (p.His256=)
|
|
|
NM_001698.3(AUH):c.804C>T (p.Tyr268=)
|
rs775342115
|
|
NM_001698.3(AUH):c.825G>A (p.Ala275=)
|
|
|
NM_001698.3(AUH):c.894+14dup
|
rs2131194109
|
|
NM_001698.3(AUH):c.894+19G>C
|
rs377735590
|
|
NM_001698.3(AUH):c.897C>T (p.Val299=)
|
|
|
NM_001698.3(AUH):c.909A>C (p.Thr303=)
|
rs779607746
|
|
NM_001698.3(AUH):c.943-16A>G
|
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
NM_001698.3(AUH):c.96G>A (p.Pro32=)
|
|
|
NM_001698.3(AUH):c.996G>A (p.Arg332=)
|
|
|
NM_025136.4(OPA3):c.*2143_*2144del
|
rs532263532
|
|
NM_025136.4(OPA3):c.*3343TCTTT[2]
|
rs373580645
|
|
NM_025136.4(OPA3):c.*6104_*6105del
|
rs142661638
|
|
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
|
|
|
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
|
|
|
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
|
|
|
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
|
|
|
NM_025136.4(OPA3):c.132G>C (p.Pro44=)
|
|
|
NM_025136.4(OPA3):c.135G>A (p.Pro45=)
|
rs553414785
|
|
NM_025136.4(OPA3):c.135G>C (p.Pro45=)
|
|
|
NM_025136.4(OPA3):c.142+10A>C
|
rs539476253
|
|
NM_025136.4(OPA3):c.142+11C>T
|
|
|
NM_025136.4(OPA3):c.142+12C>A
|
|
|
NM_025136.4(OPA3):c.142+13C>A
|
|
|
NM_025136.4(OPA3):c.142+13C>G
|
|
|
NM_025136.4(OPA3):c.142+13C>T
|
|
|
NM_025136.4(OPA3):c.142+17T>A
|
|
|
NM_025136.4(OPA3):c.142+18T>C
|
rs1969904773
|
|
NM_025136.4(OPA3):c.142+20C>T
|
|
|
NM_025136.4(OPA3):c.142+9G>A
|
|
|
NM_025136.4(OPA3):c.142+9G>C
|
|
|
NM_025136.4(OPA3):c.143-12C>G
|
|
|
NM_025136.4(OPA3):c.143-12C>T
|
|
|
NM_025136.4(OPA3):c.143-13T>G
|
rs1278896715
|
|
NM_025136.4(OPA3):c.143-16C>A
|
|
|
NM_025136.4(OPA3):c.143-16C>G
|
|
|
NM_025136.4(OPA3):c.143-16CT[2]
|
|
|
NM_025136.4(OPA3):c.143-17C>T
|
|
|
NM_025136.4(OPA3):c.143-4G>T
|
|
|
NM_025136.4(OPA3):c.143-5C>T
|
rs770452409
|
|
NM_025136.4(OPA3):c.143-8C>T
|
rs1315898626
|
|
NM_025136.4(OPA3):c.143-9C>A
|
|
|
NM_025136.4(OPA3):c.144G>A (p.Leu48=)
|
rs2122440942
|
|
NM_025136.4(OPA3):c.15G>A (p.Ala5=)
|
|
|
NM_025136.4(OPA3):c.165G>T (p.Arg55=)
|
|
|
NM_025136.4(OPA3):c.168C>T (p.Thr56=)
|
|
|
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
|
|
|
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
|
|
|
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
|
|
|
NM_025136.4(OPA3):c.201C>T (p.Val67=)
|
rs539986269
|
|
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
|
|
|
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
|
|
|
NM_025136.4(OPA3):c.213G>A (p.Leu71=)
|
rs1258779986
|
|
NM_025136.4(OPA3):c.216C>T (p.Asn72=)
|
rs772750356
|
|
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
|
|
|
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
|
|
|
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
|
|
|
NM_025136.4(OPA3):c.235C>T (p.Leu79=)
|
rs886037828
|
|
NM_025136.4(OPA3):c.237G>A (p.Leu79=)
|
rs943536843
|
|
NM_025136.4(OPA3):c.237G>T (p.Leu79=)
|
|
|
NM_025136.4(OPA3):c.240C>T (p.Gly80=)
|
|
|
NM_025136.4(OPA3):c.246G>A (p.Glu82=)
|
rs1599964759
|
|
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
|
|
|
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
|
|
|
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
|
|
|
NM_025136.4(OPA3):c.255C>G (p.Gly85=)
|
rs951025429
|
|
NM_025136.4(OPA3):c.273C>T (p.Ile91=)
|
rs369545089
|
|
NM_025136.4(OPA3):c.279C>T (p.Gly93=)
|
rs1165747962
|
|
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
|
|
|
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
|
|
|
NM_025136.4(OPA3):c.282C>T (p.Gly94=)
|
rs1478895044
|
|
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
|
|
|
NM_025136.4(OPA3):c.289C>T (p.Leu97=)
|
rs755295420
|
|
NM_025136.4(OPA3):c.291A>G (p.Leu97=)
|
rs755689286
|
|
NM_025136.4(OPA3):c.30G>A (p.Lys10=)
|
rs1131692018
|
|
NM_025136.4(OPA3):c.318G>T (p.Ala106=)
|
rs867188673
|
|
NM_025136.4(OPA3):c.327C>G (p.Arg109=)
|
rs2122439641
|
|
NM_025136.4(OPA3):c.33G>A (p.Leu11=)
|
rs148805518
|
|
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
|
|
|
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
|
|
|
NM_025136.4(OPA3):c.363G>A (p.Ala121=)
|
rs1371810069
|
|
NM_025136.4(OPA3):c.363G>C (p.Ala121=)
|
rs1371810069
|
|
NM_025136.4(OPA3):c.363G>T (p.Ala121=)
|
rs1371810069
|
|
NM_025136.4(OPA3):c.364C>T (p.Leu122=)
|
|
|
NM_025136.4(OPA3):c.367C>A (p.Arg123=)
|
rs1022155897
|
|
NM_025136.4(OPA3):c.390G>A (p.Ala130=)
|
rs2122439205
|
|
NM_025136.4(OPA3):c.393G>A (p.Leu131=)
|
|
|
NM_025136.4(OPA3):c.397C>T (p.Leu133=)
|
rs2122439146
|
|
NM_025136.4(OPA3):c.405G>A (p.Ala135=)
|
rs750848548
|
|
NM_025136.4(OPA3):c.40T>C (p.Leu14=)
|
rs2122529532
|
|
NM_025136.4(OPA3):c.414G>A (p.Ala138=)
|
rs1969373306
|
|
NM_025136.4(OPA3):c.414G>T (p.Ala138=)
|
|
|
NM_025136.4(OPA3):c.417G>A (p.Gln139=)
|
rs2122438987
|
|
NM_025136.4(OPA3):c.429G>A (p.Ala143=)
|
rs745373208
|
|
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
|
|
|
NM_025136.4(OPA3):c.444C>G (p.Ala148=)
|
rs759536853
|
|
NM_025136.4(OPA3):c.445C>T (p.Leu149=)
|
rs1057523113
|
|
NM_025136.4(OPA3):c.456G>A (p.Leu152=)
|
|
|
NM_025136.4(OPA3):c.456G>T (p.Leu152=)
|
|
|
NM_025136.4(OPA3):c.45C>T (p.Gly15=)
|
|
|
NM_025136.4(OPA3):c.462A>C (p.Thr154=)
|
rs2122438569
|
|
NM_025136.4(OPA3):c.462A>G (p.Thr154=)
|
|
|
NM_025136.4(OPA3):c.468G>C (p.Leu156=)
|
rs2122438534
|
|
NM_025136.4(OPA3):c.471A>G (p.Gln157=)
|
|
|
NM_025136.4(OPA3):c.474G>A (p.Glu158=)
|
rs1969371102
|
|
NM_025136.4(OPA3):c.477G>C (p.Val159=)
|
|
|
NM_025136.4(OPA3):c.477G>T (p.Val159=)
|
|
|
NM_025136.4(OPA3):c.483C>G (p.Ala161=)
|
rs2122438328
|
|
NM_025136.4(OPA3):c.489C>T (p.Leu163=)
|
|
|
NM_025136.4(OPA3):c.501C>T (p.Gly167=)
|
|
|
NM_025136.4(OPA3):c.504G>A (p.Arg168=)
|
|
|
NM_025136.4(OPA3):c.504G>T (p.Arg168=)
|
|
|
NM_025136.4(OPA3):c.507C>G (p.Ser169=)
|
rs757829968
|
|
NM_025136.4(OPA3):c.513C>T (p.Ser171=)
|
|
|
NM_025136.4(OPA3):c.516C>T (p.His172=)
|
rs1427115632
|
|
NM_025136.4(OPA3):c.522G>A (p.Val174=)
|
rs1969369481
|
|
NM_025136.4(OPA3):c.531C>T (p.Ser177=)
|
rs2122437966
|
|
NM_025136.4(OPA3):c.57C>T (p.Val19=)
|
rs1600010212
|
|
NM_025136.4(OPA3):c.66G>T (p.Pro22=)
|
rs1969906893
|
|
NM_025136.4(OPA3):c.6G>A (p.Val2=)
|
rs2122529689
|
|
NM_025136.4(OPA3):c.6G>C (p.Val2=)
|
rs2122529689
|
|
NM_025136.4(OPA3):c.72C>T (p.Ala24=)
|
rs1305459152
|
|
NM_025136.4(OPA3):c.75C>T (p.Asn25=)
|
rs2122529407
|
|
NM_025136.4(OPA3):c.84G>A (p.Lys28=)
|
|
|
NM_025136.4(OPA3):c.90C>A (p.Ala30=)
|
rs1600010139
|
|
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
|
|
|
NM_030813.6(CLPB):c.651G>C (p.Gly217=)
|
|
|
NM_030813.6(CLPB):c.666A>C (p.Ala222=)
|
|
|
NM_030813.6(CLPB):c.675C>T (p.His225=)
|
|
|
NM_030813.6(CLPB):c.693A>C (p.Thr231=)
|
|
|
NM_030813.6(CLPB):c.705G>A (p.Glu235=)
|
rs2135657829
|
|
NM_030813.6(CLPB):c.729C>T (p.Pro243=)
|
|
|
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
|
|
|
NM_032861.4(SERAC1):c.1166+15G>A
|
|
|
NM_032861.4(SERAC1):c.1166+8del
|
rs766776726
|
|
NM_032861.4(SERAC1):c.1167-15T>C
|
|
|
NM_032861.4(SERAC1):c.1182A>G (p.Ala394=)
|
rs2128412053
|
|
NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)
|
|
|
NM_032861.4(SERAC1):c.128+7C>T
|
|
|
NM_032861.4(SERAC1):c.1309-18A>G
|
|
|
NM_032861.4(SERAC1):c.1309-18_1309-17del
|
rs780332152
|
|
NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)
|
|
|
NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)
|
|
|
NM_032861.4(SERAC1):c.138A>G (p.Leu46=)
|
rs777425675
|
|
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)
|
rs115459512
|
|
NM_032861.4(SERAC1):c.1404-13TTGTT[3]
|
|
|
NM_032861.4(SERAC1):c.1501+16A>C
|
rs369225459
|
|
NM_032861.4(SERAC1):c.1501+16A>G
|
rs369225459
|
|
NM_032861.4(SERAC1):c.1502-16C>T
|
|
|
NM_032861.4(SERAC1):c.1502-20T>A
|
rs867006888
|
|
NM_032861.4(SERAC1):c.1502-24dup
|
rs780420200
|
|
NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)
|
|
|
NM_032861.4(SERAC1):c.162C>T (p.Ala54=)
|
|
|
NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)
|
|
|
NM_032861.4(SERAC1):c.1684+10T>C
|
|
|
NM_032861.4(SERAC1):c.1684+20A>G
|
|
|
NM_032861.4(SERAC1):c.1684+7C>T
|
rs765831183
|
|
NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)
|
|
|
NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)
|
|
|
NM_032861.4(SERAC1):c.183A>G (p.Leu61=)
|
|
|
NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)
|
|
|
NM_032861.4(SERAC1):c.195G>A (p.Val65=)
|
rs2128422348
|
|
NM_032861.4(SERAC1):c.21C>T (p.Cys7=)
|
rs139301835
|
|
NM_032861.4(SERAC1):c.265+11T>C
|
|
|
NM_032861.4(SERAC1):c.265+11del
|
|
|
NM_032861.4(SERAC1):c.356-16T>C
|
rs1785075456
|
|
NM_032861.4(SERAC1):c.356-20G>C
|
|
|
NM_032861.4(SERAC1):c.412C>A (p.Arg138=)
|
|
|
NM_032861.4(SERAC1):c.468G>A (p.Ser156=)
|
|
|
NM_032861.4(SERAC1):c.555A>G (p.Glu185=)
|
|
|
NM_032861.4(SERAC1):c.582A>G (p.Leu194=)
|
|
|
NM_032861.4(SERAC1):c.610-17C>G
|
|
|
NM_032861.4(SERAC1):c.72C>A (p.Gly24=)
|
|
|
NM_032861.4(SERAC1):c.739-13A>G
|
|
|
NM_032861.4(SERAC1):c.739-15T>A
|
rs1055428813
|
|
NM_032861.4(SERAC1):c.771T>C (p.Leu257=)
|
|
|
NM_032861.4(SERAC1):c.780T>C (p.Ala260=)
|
rs2128415873
|
|
NM_032861.4(SERAC1):c.840A>T (p.Val280=)
|
rs2128415848
|
|
NM_032861.4(SERAC1):c.852+16A>T
|
|
|
NM_032861.4(SERAC1):c.852+7T>C
|
rs1452026354
|
|
NM_032861.4(SERAC1):c.876C>A (p.Ile292=)
|
|
|
NM_032861.4(SERAC1):c.885T>C (p.Asn295=)
|
|
|
NM_032861.4(SERAC1):c.897G>A (p.Gln299=)
|
|
|
NM_032861.4(SERAC1):c.91+13T>A
|
|
|
NM_032861.4(SERAC1):c.91+9A>G
|
|
|
NM_032861.4(SERAC1):c.92-17C>T
|
rs1785305261
|
|
NM_032861.4(SERAC1):c.92-20del
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)
|
|
|
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)
|
|
|
NM_145261.4(DNAJC19):c.129+7C>T
|
rs2108509597
|
|
NM_145261.4(DNAJC19):c.130-4T>C
|
|
|
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)
|
|
|
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)
|
|
|
NM_145261.4(DNAJC19):c.209+11C>T
|
rs374496383
|
|
NM_145261.4(DNAJC19):c.209+19T>C
|
|
|
NM_145261.4(DNAJC19):c.210-12T>A
|
|
|
NM_145261.4(DNAJC19):c.210-14_210-13del
|
rs757422860
|
|
NM_145261.4(DNAJC19):c.210-18A>G
|
|
|
NM_145261.4(DNAJC19):c.210-4T>C
|
|
|
NM_145261.4(DNAJC19):c.280+15A>C
|
|
|
NM_145261.4(DNAJC19):c.280+19C>A
|
rs1203314065
|
|
NM_145261.4(DNAJC19):c.281-15T>G
|
|
|
NM_145261.4(DNAJC19):c.281-21_281-19del
|
|
|
NM_145261.4(DNAJC19):c.281-21_281-20del
|
|
|
NM_145261.4(DNAJC19):c.281-4A>G
|
|
|
NM_145261.4(DNAJC19):c.281-5T>A
|
rs766954639
|
|
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=)
|
rs2108506993
|
|
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)
|
|
|
NM_145261.4(DNAJC19):c.3+13T>C
|
rs2108511019
|
|
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)
|
|
|
NM_145261.4(DNAJC19):c.55+10T>C
|
|
|
NM_145261.4(DNAJC19):c.55+20A>T
|
rs1577025780
|
|
NM_145261.4(DNAJC19):c.56-17G>C
|
|
|
NM_145261.4(DNAJC19):c.56-7G>T
|
|
|
NM_145261.4(DNAJC19):c.57C>T (p.Gly19=)
|
|
|
NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=)
|
rs145786060
|
|
NM_145261.4(DNAJC19):c.84T>C (p.His28=)
|
|
|