NM_001232.4(CASQ2):c.*632G>C
|
rs1140238
|
0.65651
|
NM_001232.4(CASQ2):c.*482C>T
|
rs7521023
|
0.63558
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
NM_138959.3(VANGL1):c.*1183del
|
rs3841008
|
0.25316
|
NM_001232.4(CASQ2):c.*1123_*1124del
|
rs56839330
|
0.23414
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_006416.5(SLC35A1):c.887-14T>C
|
rs56136150
|
0.10768
|
NM_001232.4(CASQ2):c.*138T>C
|
rs28730710
|
0.10658
|
NM_025265.4(TSEN2):c.-391G>A
|
rs3806662
|
0.09194
|
NM_016955.4(SEPSECS):c.*455C>T
|
rs73252520
|
0.08857
|
NM_016955.4(SEPSECS):c.*2694A>G
|
rs956925
|
0.07936
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)
|
rs28730711
|
0.04871
|
NM_178161.3(PTF1A):c.*190C>T
|
rs74121767
|
0.04559
|
NM_024075.4(TSEN34):c.*1177G>T
|
rs78711269
|
0.03779
|
NM_006416.5(SLC35A1):c.*147C>T
|
rs55960393
|
0.03465
|
NM_153240.5(NPHP3):c.*266G>A
|
rs11708200
|
0.03396
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
NM_207346.2(TSEN54):c.*331T>A
|
rs150621720
|
0.02560
|
NM_153240.5(NPHP3):c.*785G>A
|
rs6774366
|
0.02518
|
NM_024075.4(TSEN34):c.*1176A>T
|
rs78793520
|
0.02245
|
NM_001232.4(CASQ2):c.1014+9C>T
|
rs77775029
|
0.02121
|
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)
|
rs28730712
|
0.02116
|
NM_016955.4(SEPSECS):c.*638G>C
|
rs10004441
|
0.01839
|
NM_016955.4(SEPSECS):c.*2209A>G
|
rs9998044
|
0.01837
|
NM_153240.5(NPHP3):c.864T>A (p.Thr288=)
|
rs147932449
|
0.01825
|
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys)
|
rs35485382
|
0.01709
|
NM_138959.3(VANGL1):c.*3544C>T
|
rs74117023
|
0.01618
|
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_138959.3(VANGL1):c.*3336G>A
|
rs61732170
|
0.01470
|
NM_006416.5(SLC35A1):c.*240G>T
|
rs9450722
|
0.01462
|
NM_001044385.3(TMEM237):c.*3124A>T
|
rs79378497
|
0.01390
|
NM_020320.5(RARS2):c.63A>G (p.Pro21=)
|
rs7748563
|
0.01309
|
NM_153240.5(NPHP3):c.57G>C (p.Thr19=)
|
rs192633696
|
0.01128
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_016955.4(SEPSECS):c.*1041T>C
|
rs114420733
|
0.01027
|
NM_016955.4(SEPSECS):c.*371_*372del
|
rs143987218
|
0.01024
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_025114.4(CEP290):c.-33G>T
|
rs139415563
|
0.00894
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_138959.3(VANGL1):c.-239G>A
|
rs563855412
|
0.00806
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_138959.3(VANGL1):c.*1652C>T
|
rs146512242
|
0.00738
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_018718.3(CEP41):c.*1512C>T
|
rs73721889
|
0.00689
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_021926.4(ALX4):c.*290T>C
|
rs7128671
|
0.00637
|
NM_001173990.3(TMEM216):c.*21A>G
|
rs111371929
|
0.00615
|
NM_018082.6(POLR3B):c.1958A>T (p.Asp653Val)
|
rs144161033
|
0.00581
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_024075.5(TSEN34):c.-5+15G>A
|
rs141003293
|
0.00497
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_018082.6(POLR3B):c.975A>G (p.Glu325=)
|
rs145542203
|
0.00487
|
NM_138959.3(VANGL1):c.*5444C>G
|
rs142497673
|
0.00486
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_003384.2(VRK1):c.-110C>T
|
rs77630815
|
0.00455
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_138959.3(VANGL1):c.435T>C (p.Cys145=)
|
rs34768472
|
0.00443
|
NM_138959.3(VANGL1):c.*3653C>T
|
rs146435279
|
0.00442
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_001077446.4(TSEN34):c.*1053G>A
|
rs182704571
|
0.00428
|
NM_138959.3(VANGL1):c.*2865A>G
|
rs114921471
|
0.00424
|
NM_001044385.3(TMEM237):c.*3453T>G
|
rs77771615
|
0.00420
|
NM_001044385.3(TMEM237):c.*2137A>G
|
rs115353606
|
0.00418
|
NM_001044385.3(TMEM237):c.*2349C>T
|
rs74884418
|
0.00418
|
NM_001044385.3(TMEM237):c.*3372C>T
|
rs192214909
|
0.00418
|
NM_001044385.3(TMEM237):c.*1107C>T
|
rs143516209
|
0.00417
|
NM_001044385.3(TMEM237):c.*1975C>G
|
rs142233268
|
0.00417
|
NM_001044385.3(TMEM237):c.*2719G>A
|
rs142852956
|
0.00417
|
NM_001044385.3(TMEM237):c.*2180G>A
|
rs77649251
|
0.00416
|
NM_138959.3(VANGL1):c.345C>T (p.Val115=)
|
rs79828493
|
0.00413
|
NM_001044385.3(TMEM237):c.*1588G>A
|
rs150141936
|
0.00396
|
NM_024075.5(TSEN34):c.-95A>G
|
rs115290127
|
0.00390
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_001044385.3(TMEM237):c.*2431T>G
|
rs142355657
|
0.00379
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_025265.4(TSEN2):c.272-4C>G
|
rs41293385
|
0.00369
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_138959.3(VANGL1):c.330C>T (p.Tyr110=)
|
rs41275546
|
0.00358
|
NM_025265.4(TSEN2):c.-20G>A
|
rs9871742
|
0.00345
|
NM_001044385.3(TMEM237):c.*2480T>G
|
rs75655554
|
0.00337
|
NM_016042.4(EXOSC3):c.*881A>G
|
rs143319153
|
0.00332
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_018082.6(POLR3B):c.2136A>G (p.Leu712=)
|
rs139146614
|
0.00324
|
NM_207346.3(TSEN54):c.*169T>C
|
rs111972085
|
0.00317
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
|
rs143522987
|
0.00307
|
NM_001378615.1(CC2D2A):c.-87G>A
|
rs145443888
|
0.00305
|
NM_016955.4(SEPSECS):c.*3402A>G
|
rs149506792
|
0.00300
|
NM_018718.3(CEP41):c.*136T>G
|
rs148305542
|
0.00287
|
NM_018718.3(CEP41):c.*4314T>C
|
rs114939029
|
0.00286
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_025265.4(TSEN2):c.-173C>T
|
rs76012118
|
0.00250
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_020320.5(RARS2):c.-8A>C
|
rs28381459
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_020320.5(RARS2):c.1410C>A (p.Leu470=)
|
rs139564081
|
0.00223
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_001232.4(CASQ2):c.*143G>A
|
rs28730709
|
0.00217
|
NM_021926.4(ALX4):c.*2349C>A
|
rs139570599
|
0.00210
|
NM_016042.4(EXOSC3):c.*64C>T
|
rs142727320
|
0.00209
|
NM_001044385.3(TMEM237):c.*439G>A
|
rs139374574
|
0.00208
|
NM_001044385.3(TMEM237):c.*634C>T
|
rs139016907
|
0.00207
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_138959.3(VANGL1):c.*1772A>G
|
rs114033235
|
0.00199
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_018082.6(POLR3B):c.1401T>A (p.Gly467=)
|
rs74390456
|
0.00195
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His)
|
rs369805010
|
0.00193
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_018718.3(CEP41):c.*4594C>T
|
rs151309255
|
0.00159
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg)
|
rs141673853
|
0.00154
|
NM_138959.3(VANGL1):c.*383C>G
|
rs75277108
|
0.00153
|
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val)
|
rs142663818
|
0.00142
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)
|
rs114878910
|
0.00125
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_021926.4(ALX4):c.*899C>T
|
rs543627488
|
0.00113
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_178161.3(PTF1A):c.162C>T (p.Ser54=)
|
rs117678424
|
0.00110
|
NM_021926.4(ALX4):c.*3805G>A
|
rs373307279
|
0.00108
|
NM_025265.4(TSEN2):c.405G>A (p.Pro135=)
|
rs140728375
|
0.00090
|
NM_018082.6(POLR3B):c.1464+14G>A
|
rs200061150
|
0.00076
|
NM_000368.5(TSC1):c.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu)
|
rs141249409
|
0.00070
|
NM_021926.4(ALX4):c.1035C>T (p.Ser345=)
|
rs140652481
|
0.00064
|
NM_138959.3(VANGL1):c.*2187T>C
|
rs146730302
|
0.00061
|
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp)
|
rs200683263
|
0.00061
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_021926.4(ALX4):c.917C>T (p.Pro306Leu)
|
rs149897209
|
0.00052
|
NM_018718.3(CEP41):c.*2481T>A
|
rs528289176
|
0.00051
|
NM_018718.3(CEP41):c.*2896G>A
|
rs147207980
|
0.00048
|
NM_018718.3(CEP41):c.*1534T>C
|
rs149912245
|
0.00047
|
NM_018718.3(CEP41):c.*1567A>C
|
rs139085191
|
0.00047
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
0.00041
|
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)
|
rs146578402
|
0.00040
|
NM_138959.3(VANGL1):c.*47G>T
|
rs190792695
|
0.00039
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_015272.5(RPGRIP1L):c.*1033G>A
|
rs145688122
|
0.00032
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_021926.4(ALX4):c.1182G>A (p.Ala394=)
|
rs149365713
|
0.00031
|
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=)
|
rs147279669
|
0.00029
|
NM_018718.3(CEP41):c.*392G>A
|
rs528501184
|
0.00026
|
NM_001077446.4(TSEN34):c.314G>A (p.Arg105Gln)
|
rs138586360
|
0.00024
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
0.00021
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_018082.6(POLR3B):c.1113T>C (p.Leu371=)
|
rs141885523
|
0.00019
|
NM_021926.4(ALX4):c.1149C>T (p.Asn383=)
|
rs376675326
|
0.00016
|
NM_021926.4(ALX4):c.188G>A (p.Arg63Gln)
|
rs372830230
|
0.00016
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
NM_001173990.2(TMEM216):c.-86G>A
|
rs188478638
|
0.00014
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=)
|
rs77226826
|
0.00014
|
NM_178161.3(PTF1A):c.102C>T (p.Asp34=)
|
rs199831799
|
0.00014
|
NM_001173990.2(TMEM216):c.-135T>C
|
rs183785901
|
0.00013
|
NM_018082.6(POLR3B):c.1707T>C (p.Asn569=)
|
rs17038450
|
0.00013
|
NM_021926.4(ALX4):c.728C>T (p.Ala243Val)
|
rs145166164
|
0.00013
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
|
rs199755731
|
0.00011
|
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
|
rs199612496
|
0.00011
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
NM_021926.4(ALX4):c.*563C>T
|
rs574340639
|
0.00011
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr)
|
rs549685905
|
0.00010
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)
|
rs370400336
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001173990.2(TMEM216):c.-91G>A
|
rs557559653
|
0.00009
|
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
NM_021926.4(ALX4):c.*407G>A
|
rs539799951
|
0.00009
|
NM_021926.4(ALX4):c.217C>T (p.Leu73=)
|
rs766525768
|
0.00009
|
NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg)
|
rs200389969
|
0.00009
|
NM_207346.3(TSEN54):c.862G>A (p.Val288Ile)
|
rs199682817
|
0.00009
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_018718.3(CEP41):c.*1336A>G
|
rs781954428
|
0.00007
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00006
|
NM_002449.5(MSX2):c.*1206T>C
|
rs77229212
|
0.00006
|
NM_025265.4(TSEN2):c.870A>G (p.Pro290=)
|
rs542708828
|
0.00006
|
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00005
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00005
|
NM_021926.4(ALX4):c.*196C>T
|
rs189945537
|
0.00005
|
NM_138959.3(VANGL1):c.*707C>T
|
rs562969850
|
0.00005
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_000368.4(TSC1):c.-242G>T
|
rs571288003
|
0.00003
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)
|
rs202121327
|
0.00003
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
NM_002449.5(MSX2):c.-42C>T
|
rs758437365
|
0.00003
|
NM_021926.4(ALX4):c.1218C>T (p.Ala406=)
|
rs745849255
|
0.00002
|
NM_000368.5(TSC1):c.168G>A (p.Pro56=)
|
rs781483110
|
0.00001
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
0.00001
|
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)
|
rs118203450
|
0.00001
|
NM_001128178.3(NPHP1):c.-17G>A
|
rs566875282
|
0.00001
|
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)
|
rs548684868
|
0.00001
|
NM_002449.5(MSX2):c.315G>C (p.Lys105Asn)
|
rs760574628
|
0.00001
|
NM_020320.5(RARS2):c.660A>C (p.Ala220=)
|
rs553502877
|
0.00001
|
NM_021926.4(ALX4):c.*25C>T
|
rs780898515
|
0.00001
|
NM_138959.3(VANGL1):c.*2344A>C
|
rs531884184
|
0.00001
|
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr)
|
rs565666569
|
0.00001
|
NM_000368.5(TSC1):c.*2228G>A
|
rs528833042
|
|
NM_000368.5(TSC1):c.*2893del
|
rs143549363
|
|
NM_000368.5(TSC1):c.*295C>A
|
rs113549339
|
|
NM_000368.5(TSC1):c.*4631del
|
rs60000611
|
|
NM_000368.5(TSC1):c.915G>C (p.Gly305=)
|
rs397515293
|
|
NM_001044385.3(TMEM237):c.*2142G>C
|
rs76042698
|
|
NM_001044385.3(TMEM237):c.-25G>A
|
rs568671275
|
|
NM_001077446.4(TSEN34):c.*385A>T
|
rs36622
|
|
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
|
rs199736888
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001232.4(CASQ2):c.*1017del
|
rs11347859
|
|
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)
|
rs16892134
|
|
NM_002449.5(MSX2):c.*1086dup
|
rs145784193
|
|
NM_006416.5(SLC35A1):c.*294dup
|
rs11432150
|
|
NM_016042.4(EXOSC3):c.*571TAT[1]
|
rs34753153
|
|
NM_016955.3(SEPSECS):c.-147dup
|
rs536637971
|
|
NM_016955.4(SEPSECS):c.*236_*237insTTT
|
rs140928773
|
|
NM_018082.6(POLR3B):c.1776A>T (p.Leu592=)
|
rs201223367
|
|
NM_020320.5(RARS2):c.726A>G (p.Gln242=)
|
rs145499324
|
|
NM_021926.4(ALX4):c.*2861C>A
|
rs192487688
|
|
NM_021926.4(ALX4):c.*424dup
|
rs113592690
|
|
NM_021926.4(ALX4):c.*804AAG[1]
|
rs149719812
|
|
NM_025265.4(TSEN2):c.-200C>T
|
rs540294443
|
|
NM_025265.4(TSEN2):c.-297C>T
|
rs190941859
|
|
NM_025265.4(TSEN2):c.-373C>T
|
rs550947754
|
|
NM_025265.4(TSEN2):c.-374G>A
|
rs28657473
|
|
NM_138959.3(VANGL1):c.*3762CAAA[2]
|
rs144395099
|
|
NM_138959.3(VANGL1):c.*4089del
|
rs138659832
|
|
NM_138959.3(VANGL1):c.*4788C>G
|
rs148437823
|
|
NM_138959.3(VANGL1):c.*5008T>A
|
rs117347999
|
|
NM_138959.3(VANGL1):c.*6763dup
|
rs5777244
|
|
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly)
|
rs201351319
|
|