NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_020989.4(CRYGC):c.143G>A (p.Arg48His)
|
rs61751949
|
0.01047
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)
|
rs35703638
|
0.00326
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_016953.4(PDE11A):c.171del (p.Thr58fs)
|
rs529789124
|
0.00056
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
NM_001813.3(CENPE):c.80C>T (p.Ala27Val)
|
rs533108216
|
0.00021
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys)
|
rs199899258
|
0.00017
|
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)
|
rs202036744
|
0.00017
|
NM_000070.3(CAPN3):c.*534T>C
|
rs772498665
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter)
|
rs765113367
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys)
|
rs781734224
|
0.00006
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
|
rs750302536
|
0.00005
|
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile)
|
rs535526499
|
0.00005
|
NM_001098537.3(PNPLA7):c.1889+1G>A
|
rs767961762
|
0.00004
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)
|
rs369442293
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu)
|
rs752860146
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_001205254.2(OCLN):c.1037+1G>A
|
rs748442113
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
|
rs779165268
|
0.00002
|
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)
|
rs755487351
|
0.00002
|
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala)
|
rs773843633
|
0.00002
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)
|
rs760752847
|
0.00002
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000070.3(CAPN3):c.946-29del
|
rs1595826640
|
0.00001
|
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)
|
rs767000881
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)
|
rs777785781
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser)
|
rs750832804
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs)
|
rs765879488
|
0.00001
|
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)
|
rs768073446
|
0.00001
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)
|
rs760264695
|
0.00001
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser)
|
rs190878515
|
0.00001
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn)
|
rs751941551
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+1G>T
|
rs982893820
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)
|
rs1200451014
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)
|
rs756490783
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)
|
rs765215862
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001384140.1(PCDH15):c.92-528C>T
|
rs190773725
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)
|
rs778851652
|
0.00001
|
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln)
|
rs754024503
|
0.00001
|
NM_005529.7(HSPG2):c.8316+1G>A
|
rs927473035
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_014875.3(KIF14):c.1375G>A (p.Gly459Arg)
|
rs1660302910
|
0.00001
|
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)
|
rs755133567
|
0.00001
|
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)
|
rs772050241
|
0.00001
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
|
rs1485445500
|
0.00001
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser)
|
rs1459697236
|
0.00001
|
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
|
|
|
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
|
|
|
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
|
|
|
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
|
|
|
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
|
|
|
GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0
|
|
|
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
|
|
|
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
|
|
|
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
|
|
|
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
|
|
|
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)
|
rs1598265282
|
|
NM_000023.4(SGCA):c.37+5G>T
|
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)
|
rs781013226
|
|
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)
|
rs1595828703
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1354+129T>A
|
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)
|
rs1595844413
|
|
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)
|
rs1595847257
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
NM_000070.3(CAPN3):c.483del (p.Ile162fs)
|
rs863224963
|
|
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe)
|
rs1595819812
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)
|
rs794727615
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr)
|
rs1595822648
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000163.5(GHR):c.266+1G>A
|
rs1009412984
|
|
NM_000231.3(SGCG):c.505+2T>C
|
rs1593216248
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)
|
rs1018529334
|
|
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser)
|
rs747310316
|
|
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile)
|
rs746285672
|
|
NM_000302.4(PLOD1):c.1651-2A>C
|
rs565513365
|
|
NM_000302.4(PLOD1):c.975+2_975+3insTT
|
|
|
NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)
|
|
|
NM_000466.3(PEX1):c.1099del (p.Gln367fs)
|
rs1403870448
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu)
|
rs1567219166
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
|
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)
|
rs972221242
|
|
NM_001044385.3(TMEM237):c.80-2A>G
|
rs1445957469
|
|
NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)
|
|
|
NM_001083961.2(WDR62):c.1589dup (p.Glu531fs)
|
|
|
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)
|
rs1472549168
|
|
NM_001128431.4(SLC39A14):c.751-9C>G
|
rs1039778197
|
|
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val)
|
rs1573811118
|
|
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg)
|
rs1573929182
|
|
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)
|
rs753711667
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)
|
rs746315830
|
|
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)
|
rs1574264671
|
|
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)
|
rs758107024
|
|
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)
|
rs1558613592
|
|
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)
|
rs1574340607
|
|
NM_001130987.2(DYSF):c.4221+5del
|
rs1574341049
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)
|
rs767788624
|
|
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr)
|
rs1572921644
|
|
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs)
|
rs1572994572
|
|
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)
|
rs1573009747
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)
|
rs1336670524
|
|
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)
|
rs1573176526
|
|
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)
|
rs1573658295
|
|
NM_001130987.2(DYSF):c.951+3_951+4del
|
rs1573663867
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)
|
rs372012542
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)
|
rs1583187059
|
|
NM_001160372.4(TRAPPC9):c.1623-1G>A
|
|
|
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
|
|
|
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
|
|
|
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)
|
rs797045841
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
|
rs534484592
|
|
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
|
|
|
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)
|
rs794727544
|
|
NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs)
|
|
|
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)
|
rs1575185742
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.16055-3C>G
|
|
|
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)
|
rs777924443
|
|
NM_001267550.2(TTN):c.30440A>C (p.Tyr10147Ser)
|
rs1577672002
|
|
NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs)
|
|
|
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter)
|
rs557526069
|
|
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs)
|
rs2064831878
|
|
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
|
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
NM_001267550.2(TTN):c.47398_47402dup (p.Ser15802fs)
|
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
|
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer)
|
|
|
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
|
|
|
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
|
|
|
NM_001351132.2(PEX5):c.140_147+36del
|
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs)
|
rs1671340542
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)
|
rs767260373
|
|
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1440+2T>C
|
rs1363688830
|
|
NM_001384140.1(PCDH15):c.1441-2A>C
|
rs758482449
|
|
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser)
|
rs1196401374
|
|
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs)
|
rs767847479
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1784+1G>T
|
|
|
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
|
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
|
|
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn)
|
rs1455035148
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
|
|
|
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
|
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2868+5G>A
|
rs757993503
|
|
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)
|
rs776416750
|
|
NM_001384140.1(PCDH15):c.3232+1G>A
|
|
|
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3501+2T>C
|
rs757418440
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3718-2A>G
|
rs1307471318
|
|
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
|
|
|
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
|
|
|
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
|
|
|
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
|
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)
|
rs138744579
|
|
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
|
|
|
NM_002161.6(IARS1):c.2229+5G>A
|
|
|
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
|
|
|
NM_002180.3(IGHMBP2):c.256+138A>G
|
|
|
NM_003383.5(VLDLR):c.1374del (p.Glu460fs)
|
rs1586653366
|
|
NM_003383.5(VLDLR):c.1962+2T>C
|
rs1563764078
|
|
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)
|
rs387906830
|
|
NM_005876.5(SPEG):c.2183del (p.Leu728fs)
|
rs1575065895
|
|
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
|
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
|
|
|
NM_006314.3(CNKSR1):c.851del (p.Pro284fs)
|
rs781114848
|
|
NM_006618.5(KDM5B):c.712-4del
|
rs558975598
|
|
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)
|
rs770084716
|
|
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
|
|
|
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
|
|
|
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup)
|
rs1588218148
|
|
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser)
|
rs762907412
|
|
NM_012233.3(RAB3GAP1):c.1555-1G>A
|
rs1573584395
|
|
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
|
|
|
NM_012233.3(RAB3GAP1):c.748+1G>A
|
rs587776651
|
|
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp)
|
rs1842359062
|
|
NM_012414.4(RAB3GAP2):c.1201del (p.Ala400_Val401insTer)
|
|
|
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)
|
|
|
NM_012463.4(ATP6V0A2):c.2176-10TC[2]
|
rs1593920665
|
|
NM_013382.7(POMT2):c.1726-1dup
|
rs1229291913
|
|
NM_013382.7(POMT2):c.333+1G>T
|
|
|
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter)
|
rs1883571494
|
|
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr)
|
rs2037467316
|
|
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile)
|
rs2041587108
|
|
NM_015378.4(VPS13D):c.10142-2A>G
|
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016038.4(SBDS):c.128+3G>C
|
|
|
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter)
|
rs1593576872
|
|
NM_017414.4(USP18):c.652C>T (p.Gln218Ter)
|
rs1085307118
|
|
NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)
|
|
|
NM_017755.6(NSUN2):c.2062del (p.Thr688fs)
|
|
|
NM_017755.6(NSUN2):c.839dup (p.Asn280fs)
|
rs1579370234
|
|
NM_017777.4(MKS1):c.959-5C>A
|
rs765242131
|
|
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)
|
rs531916765
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val)
|
rs2125105601
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018136.5(ASPM):c.688del (p.Glu230fs)
|
rs1557966012
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs)
|
rs1571596976
|
|
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter)
|
rs2125088498
|
|
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)
|
rs1589611043
|
|
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp)
|
rs1265362913
|
|
NM_018451.5(CENPJ):c.265_266del (p.Gln89fs)
|
rs2138660627
|
|
NM_018669.6(WDR4):c.454-2A>C
|
rs779449710
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
|
|
|
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr)
|
rs1208074975
|
|
NM_020964.3(EPG5):c.1252+1G>A
|
|
|
NM_020964.3(EPG5):c.2413-2A>G
|
|
|
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
|
|
|
NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr)
|
rs768220615
|
|
NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs)
|
rs1443792358
|
|
NM_021942.6(TRAPPC11):c.3379_3380insT (p.Asp1127fs)
|
|
|
NM_022095.4(ZNF335):c.201+85G>A
|
|
|
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
|
rs587777446
|
|
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)
|
rs886041058
|
|
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu)
|
rs1294549037
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_032237.5(POMK):c.965C>T (p.Pro322Leu)
|
rs747083630
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter)
|
rs758204385
|
|
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
|
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_152384.3(BBS5):c.386+1G>T
|
rs1559122277
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)
|
rs1064793681
|
|
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter)
|
rs1562374476
|
|
NM_181503.3(EXOSC8):c.17+1G>T
|
rs1412754843
|
|
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)
|
rs1593709247
|
|
NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)
|
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
|
|
|
NM_213599.3(ANO5):c.1627dup (p.Met543fs)
|
rs281865480
|
|
NM_213599.3(ANO5):c.1630+2T>G
|
rs1590300702
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
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rs137854521
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NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser)
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rs1233836740
|
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NM_213599.3(ANO5):c.649-2A>G
|
rs773736505
|
|
Single allele
|
|
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