NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
|
rs397515426
|
0.00014
|
NM_018082.6(POLR3B):c.2084-6A>G
|
rs747912710
|
0.00011
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_138959.3(VANGL1):c.715G>A (p.Val239Ile)
|
rs121918218
|
0.00006
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
NM_001519.4(BRF1):c.667C>T (p.Arg223Trp)
|
rs370270828
|
0.00003
|
NM_001519.4(BRF1):c.776C>T (p.Thr259Met)
|
rs373957300
|
0.00003
|
NM_005559.4(LAMA1):c.2986del (p.Thr996fs)
|
rs587777679
|
0.00003
|
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys)
|
rs779945821
|
0.00003
|
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
|
rs878853271
|
0.00003
|
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)
|
rs267608688
|
0.00003
|
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)
|
rs148067486
|
0.00003
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)
|
rs778210210
|
0.00002
|
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)
|
rs1065764
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016059.5(PPIL1):c.280+1G>A
|
rs374639625
|
0.00002
|
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
|
rs749030456
|
0.00001
|
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile)
|
rs745895675
|
0.00001
|
NM_001128159.3(VPS53):c.1556+5G>A
|
rs587777466
|
0.00001
|
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)
|
rs387907003
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
|
rs201391050
|
0.00001
|
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)
|
rs587777395
|
0.00001
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His)
|
rs606231261
|
0.00001
|
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu)
|
rs606231416
|
0.00001
|
NM_001519.4(BRF1):c.875C>A (p.Pro292His)
|
rs606231450
|
0.00001
|
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser)
|
rs587777621
|
0.00001
|
NM_001759.4(CCND2):c.842C>T (p.Pro281Leu)
|
rs587777622
|
0.00001
|
NM_002449.5(MSX2):c.515G>A (p.Arg172His)
|
rs104893896
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_013265.4(VPS51):c.1468C>T (p.Arg490Cys)
|
rs1203009966
|
0.00001
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter)
|
rs1774516234
|
0.00001
|
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)
|
rs553128312
|
0.00001
|
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)
|
rs754162070
|
0.00001
|
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)
|
rs369656775
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
NM_018082.6(POLR3B):c.1857-2A>C
|
rs267608686
|
0.00001
|
NM_018082.6(POLR3B):c.2570+1G>A
|
rs753943393
|
0.00001
|
NM_020320.5(RARS2):c.1024A>G (p.Met342Val)
|
rs387907048
|
0.00001
|
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln)
|
rs104894193
|
0.00001
|
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr)
|
rs371848318
|
0.00001
|
NM_025077.4(TOE1):c.518T>G (p.Val173Gly)
|
rs777030573
|
0.00001
|
NM_025233.7(COASY):c.1486-3C>G
|
rs577714887
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)
|
rs879253780
|
0.00001
|
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile)
|
rs1057519296
|
0.00001
|
NM_138773.4(SLC25A46):c.691C>T (p.Arg231Ter)
|
rs751101419
|
0.00001
|
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)
|
rs119456962
|
0.00001
|
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter)
|
rs786205229
|
0.00001
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
NC_000005.10:g.174694600_174931940delinsTATAATATGTGTGTATATAATATATATATTACAATATA
|
|
|
NC_000023.11:g.(41853228_41922929)(41923555_?)del
|
|
|
NC_000023.11:g.(41853228_41922929)_(41923555_?)del
|
|
|
NG_008960.1:g.224486-?_245539+?del
|
|
|
NG_008960.1:g.337629_355297del
|
|
|
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
|
|
|
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro)
|
rs121909230
|
|
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)
|
rs121909220
|
|
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys)
|
rs1060505021
|
|
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)
|
rs796065045
|
|
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)
|
rs869312909
|
|
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)
|
rs869312911
|
|
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)
|
rs773656789
|
|
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)
|
rs869312910
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.677+1G>T
|
rs793888505
|
|
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)
|
rs387907131
|
|
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)
|
rs113994150
|
|
NM_001082486.2(ACD):c.250_252del (p.Lys84del)
|
rs797045144
|
|
NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg)
|
rs587777465
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)
|
rs121434349
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)
|
rs387906270
|
|
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs)
|
rs387906269
|
|
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)
|
rs864309659
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs)
|
|
|
NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs)
|
rs1553730885
|
|
NM_001199198.3(TBC1D23):c.1687+1G>A
|
rs1553731603
|
|
NM_001199198.3(TBC1D23):c.1687+2T>A
|
rs1553731605
|
|
NM_001199198.3(TBC1D23):c.1687+2T>G
|
|
|
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter)
|
rs104894739
|
|
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter)
|
rs104894735
|
|
NM_001272071.2(AP1S2):c.180-5_180-2del
|
rs587776738
|
|
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter)
|
rs137852213
|
|
NM_001272071.2(AP1S2):c.288+5G>A
|
rs587776739
|
|
NM_001272071.2(AP1S2):c.426+1G>T
|
rs587777542
|
|
NM_001366285.2(TBXT):c.512A>G (p.His171Arg)
|
rs587777303
|
|
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)
|
rs387906705
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
|
|
|
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)
|
rs387906704
|
|
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro)
|
rs1556014749
|
|
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
|
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001367721.1(CASK):c.915G>A (p.Lys305=)
|
rs387906499
|
|
NM_001368809.2(AMPD2):c.1492del (p.Asp498fs)
|
rs587777391
|
|
NM_001368809.2(AMPD2):c.2094C>G (p.Tyr698Ter)
|
rs875989844
|
|
NM_001368809.2(AMPD2):c.2172G>C (p.Glu724Asp)
|
rs587777392
|
|
NM_001368809.2(AMPD2):c.2215G>T (p.Asp739Tyr)
|
rs587777394
|
|
NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter)
|
rs587777393
|
|
NM_001378615.1(CC2D2A):c.2338+1G>C
|
rs2109050324
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001384732.1(CPLANE1):c.3150-1G>T
|
rs606231258
|
|
NM_001384732.1(CPLANE1):c.3290-2A>G
|
rs606231260
|
|
NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)
|
rs1564035076
|
|
NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter)
|
rs1840249855
|
|
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter)
|
rs587777619
|
|
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala)
|
rs587777618
|
|
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
|
rs587777620
|
|
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg)
|
rs587777622
|
|
NM_002449.5(MSX2):c.265_266delinsTA (p.Ala89Ter)
|
rs121912971
|
|
NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer)
|
rs121912972
|
|
NM_002449.5(MSX2):c.475_480del (p.Arg159_Lys160del)
|
rs2113498725
|
|
NM_002449.5(MSX2):c.548_555del (p.Glu183fs)
|
rs1561643060
|
|
NM_002547.3(OPHN1):c.1579del (p.Ile527fs)
|
rs1569211016
|
|
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter)
|
rs137854493
|
|
NM_002547.3(OPHN1):c.644_645del (p.Val215fs)
|
rs1569244467
|
|
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs)
|
rs1569243931
|
|
NM_002601.4(PDE6D):c.140-1G>A
|
rs587777156
|
|
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)
|
rs1559307932
|
|
NM_002768.5(CHMP1A):c.28-13G>A
|
rs398122918
|
|
NM_003611.3(OFD1):c.2767del (p.Glu923fs)
|
rs312262894
|
|
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs)
|
rs312262895
|
|
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del)
|
rs398122866
|
|
NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter)
|
rs1311614264
|
|
NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys)
|
rs2131848604
|
|
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp)
|
rs2131792567
|
|
NM_004897.5(MINPP1):c.223_224insGGGGG (p.Glu75fs)
|
rs1851221121
|
|
NM_004897.5(MINPP1):c.300del (p.Lys101fs)
|
rs2131793302
|
|
NM_004897.5(MINPP1):c.75_94del (p.Leu27fs)
|
rs1323094107
|
|
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)
|
rs749643952
|
|
NM_004958.4(MTOR):c.4366T>G (p.Trp1456Gly)
|
rs1085307114
|
|
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)
|
rs1057519779
|
|
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)
|
rs786205165
|
|
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
|
rs863225264
|
|
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)
|
rs869312666
|
|
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)
|
rs587777894
|
|
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)
|
rs587777894
|
|
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile)
|
rs878855328
|
|
NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln)
|
rs1085307113
|
|
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)
|
rs1085307113
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005027.4(PIK3R2):c.1202T>C (p.Leu401Pro)
|
rs587777624
|
|
NM_005033.3(EXOSC9):c.151G>C (p.Gly51Arg)
|
rs2149033494
|
|
NM_005033.3(EXOSC9):c.239T>G (p.Leu80Arg)
|
rs781301648
|
|
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)
|
rs372318863
|
|
NM_005033.3(EXOSC9):c.484dup (p.Arg162fs)
|
rs1726969482
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys)
|
rs397514606
|
|
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser)
|
rs397514605
|
|
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs)
|
rs587777680
|
|
NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter)
|
rs587777681
|
|
NM_005559.4(LAMA1):c.588+2T>G
|
rs587777677
|
|
NM_005559.4(LAMA1):c.7965-15_7965-3del
|
rs587777678
|
|
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)
|
rs397514565
|
|
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del)
|
rs587776933
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)
|
rs587776932
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006831.3(CLP1):c.419G>A (p.Arg140His)
|
rs587777616
|
|
NM_013265.4(VPS51):c.1421_1423del (p.Phe474del)
|
rs752863502
|
|
NM_013265.4(VPS51):c.2232del (p.Asp745fs)
|
rs1590815040
|
|
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)
|
rs863225429
|
|
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)
|
rs863225428
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014846.4(WASHC5):c.3335+2T>A
|
rs398123007
|
|
NM_014875.3(KIF14):c.1750_1751del (p.Glu584fs)
|
rs786201012
|
|
NM_014875.3(KIF14):c.1780A>T (p.Arg594Ter)
|
rs786201013
|
|
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)
|
rs863225216
|
|
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)
|
rs121918200
|
|
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)
|
rs387906243
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg)
|
rs793888508
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)
|
rs730882145
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016046.5(EXOSC1):c.104C>T (p.Ser35Leu)
|
rs2133168246
|
|
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr)
|
rs199818754
|
|
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala)
|
rs1583103432
|
|
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
|
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)
|
rs387907134
|
|
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)
|
rs387907133
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)
|
rs773876739
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1491-2A>G
|
rs886038203
|
|
NM_017777.4(MKS1):c.1588+1G>T
|
rs886038204
|
|
NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs)
|
rs869025338
|
|
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys)
|
rs267608683
|
|
NM_018082.6(POLR3B):c.1533del (p.Ile511fs)
|
rs267608684
|
|
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter)
|
rs267608685
|
|
NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln)
|
rs775141057
|
|
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu)
|
rs267608689
|
|
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe)
|
rs2136887072
|
|
NM_018718.3(CEP41):c.33+2T>G
|
rs1584916464
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
|
rs1584901211
|
|
NM_018718.3(CEP41):c.97+3_97+5del
|
rs2117674119
|
|
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys)
|
rs866373727
|
|
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)
|
rs1558337060
|
|
NM_020314.7(VPS35L):c.2488G>A (p.Ala830Thr)
|
rs747119819
|
|
NM_020314.7(VPS35L):c.830dup (p.Cys277fs)
|
rs1972596669
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020320.5(RARS2):c.110+5A>G
|
rs63749985
|
|
NM_021620.4(PRDM13):c.800del (p.Gly267fs)
|
rs2114499988
|
|
NM_021620.4(PRDM13):c.839del (p.Ala280fs)
|
rs2114500026
|
|
NM_021620.4(PRDM13):c.844del (p.Val282fs)
|
rs2114500035
|
|
NM_021926.4(ALX4):c.385_394del (p.Cys129fs)
|
rs387906325
|
|
NM_021926.4(ALX4):c.418C>T (p.Gln140Ter)
|
rs104894191
|
|
NM_021926.4(ALX4):c.504del (p.Asp169fs)
|
rs587776614
|
|
NM_021926.4(ALX4):c.620C>A (p.Ser207Ter)
|
rs104894197
|
|
NM_021926.4(ALX4):c.646C>G (p.Arg216Gly)
|
rs587777700
|
|
NM_021926.4(ALX4):c.736C>T (p.Gln246Ter)
|
rs104894192
|
|
NM_021926.4(ALX4):c.815G>C (p.Arg272Pro)
|
rs104894196
|
|
NM_021926.4(ALX4):c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326fs)
|
rs587777702
|
|
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
|
|
|
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys)
|
rs1570621473
|
|
NM_025077.4(TOE1):c.940_941del (p.Gln314fs)
|
rs780563835
|
|
NM_025077.4(TOE1):c.957C>A (p.His319Gln)
|
rs758153898
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
NM_025233.7(COASY):c.1549_1550del (p.Ser517fs)
|
rs766482965
|
|
NM_025233.7(COASY):c.1664G>A (p.Arg555His)
|
|
|
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter)
|
rs730880294
|
|
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg)
|
rs886037739
|
|
NM_025265.4(TSEN2):c.960+1_960+5del
|
rs886037738
|
|
NM_033026.6(PCLO):c.10624C>T (p.Arg3542Ter)
|
rs746260871
|
|
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly)
|
rs730882223
|
|
NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys)
|
rs879253779
|
|
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro)
|
rs1057519294
|
|
NM_138773.4(SLC25A46):c.326+549_385-1240del
|
|
|
NM_138773.4(SLC25A46):c.42C>G (p.Tyr14Ter)
|
rs771761288
|
|
NM_138773.4(SLC25A46):c.462+1G>A
|
rs1799819389
|
|
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)
|
rs1554093168
|
|
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs)
|
rs1057518749
|
|
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu)
|
rs1057518750
|
|
NM_153816.2(SNX14):c.1108+1181_2108-2342del
|
|
|
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys)
|
rs201128942
|
|
NM_153816.6(SNX14):c.1894+1G>T
|
rs876657386
|
|
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter)
|
rs876657385
|
|
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter)
|
rs876657387
|
|
NM_153816.6(SNX14):c.645dup (p.Glu216fs)
|
rs869320748
|
|
NM_178161.3(PTF1A):c.437_460del (p.Ala146_Arg154delinsGly)
|
|
|
NM_178161.3(PTF1A):c.705dup (p.Pro236fs)
|
rs886039746
|
|
NM_178161.3(PTF1A):c.886C>T (p.Arg296Ter)
|
rs104894186
|
|
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)
|
rs606231285
|
|
NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter)
|
rs113994154
|
|
NM_207346.3(TSEN54):c.1172_1185del (p.Gln391fs)
|
rs886037629
|
|
NM_207346.3(TSEN54):c.468+2T>C
|
rs886037740
|
|
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter)
|
rs113994153
|
|
TSEN54:c.[277T>C;919G>T]
|
|
|