NM_001077416.2(TMEM231):c.12G>A (p.Arg4=)
|
rs115739052
|
0.01305
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)
|
rs141817764
|
0.00211
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val)
|
rs182008317
|
0.00181
|
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu)
|
rs186119649
|
0.00179
|
NM_001077418.3(TMEM231):c.-40C>G
|
rs114889548
|
0.00177
|
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)
|
rs201036290
|
0.00177
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly)
|
rs146210288
|
0.00138
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_001077418.3(TMEM231):c.583-20A>T
|
rs375984875
|
0.00128
|
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)
|
rs201181950
|
0.00105
|
NM_001077418.3(TMEM231):c.-15C>T
|
rs138060715
|
0.00092
|
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)
|
rs116313397
|
0.00077
|
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp)
|
rs151163650
|
0.00076
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=)
|
rs370010097
|
0.00041
|
NM_001077418.3(TMEM231):c.309+13C>A
|
rs146945255
|
0.00041
|
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)
|
rs371709760
|
0.00039
|
NM_001044385.3(TMEM237):c.554-10G>A
|
rs371503069
|
0.00033
|
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)
|
rs199624987
|
0.00031
|
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=)
|
rs370418884
|
0.00030
|
NM_018718.3(CEP41):c.423-18C>A
|
rs371925259
|
0.00029
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
NM_001044385.3(TMEM237):c.944-16T>C
|
rs369720243
|
0.00026
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
NM_001077418.3(TMEM231):c.139+42G>A
|
rs375718217
|
0.00024
|
NM_001077418.3(TMEM231):c.140-15C>T
|
rs201518524
|
0.00019
|
NM_001077418.3(TMEM231):c.438+12C>T
|
rs1000442477
|
0.00019
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_001044385.3(TMEM237):c.79+8del
|
rs759786234
|
0.00016
|
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=)
|
rs371752653
|
0.00016
|
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)
|
rs369010440
|
0.00014
|
NM_018718.3(CEP41):c.757+12G>T
|
rs377656524
|
0.00014
|
NM_001077418.3(TMEM231):c.583-9G>A
|
rs371734111
|
0.00011
|
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=)
|
rs751840699
|
0.00009
|
NM_001077418.3(TMEM231):c.798A>G (p.Val266=)
|
rs772364535
|
0.00009
|
NM_001044385.3(TMEM237):c.275-9T>C
|
rs749658028
|
0.00008
|
NM_001077418.3(TMEM231):c.310-17C>T
|
rs752375895
|
0.00007
|
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=)
|
rs368594302
|
0.00007
|
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=)
|
rs541349898
|
0.00007
|
NM_001044385.3(TMEM237):c.738G>A (p.Val246=)
|
rs199947989
|
0.00006
|
NM_001044385.3(TMEM237):c.74+15C>T
|
rs375401635
|
0.00006
|
NM_001044385.3(TMEM237):c.79+15T>C
|
rs182250754
|
0.00006
|
NM_001077418.3(TMEM231):c.210G>T (p.Val70=)
|
rs757361739
|
0.00006
|
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
|
rs776287219
|
0.00006
|
NM_001077418.3(TMEM231):c.665-19G>A
|
rs200581224
|
0.00006
|
NM_018718.3(CEP41):c.1032C>T (p.Ser344=)
|
rs189895981
|
0.00006
|
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
|
rs367931878
|
0.00006
|
NM_001044385.3(TMEM237):c.137-14C>G
|
rs760624801
|
0.00005
|
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=)
|
rs769897831
|
0.00005
|
NM_018718.3(CEP41):c.146-11A>G
|
rs781817949
|
0.00005
|
NM_018718.3(CEP41):c.786G>A (p.Pro262=)
|
rs782460743
|
0.00005
|
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=)
|
rs773344011
|
0.00004
|
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)
|
rs767711440
|
0.00004
|
NM_001044385.3(TMEM237):c.43-8C>T
|
rs759325746
|
0.00004
|
NM_001044385.3(TMEM237):c.553+9A>T
|
rs568158023
|
0.00004
|
NM_001077418.3(TMEM231):c.139+27C>T
|
rs773052053
|
0.00004
|
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=)
|
rs760694007
|
0.00004
|
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=)
|
rs778118263
|
0.00004
|
NM_001077418.3(TMEM231):c.309+12C>A
|
rs561475784
|
0.00004
|
NM_001077418.3(TMEM231):c.665-10T>C
|
rs201237881
|
0.00004
|
NM_001077418.3(TMEM231):c.759G>A (p.Val253=)
|
rs1020757759
|
0.00004
|
NM_018718.3(CEP41):c.213C>T (p.Ile71=)
|
rs370498782
|
0.00004
|
NM_018718.3(CEP41):c.277+16G>C
|
rs782272723
|
0.00004
|
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
|
rs1179996142
|
0.00004
|
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
|
rs879874108
|
0.00003
|
NM_001044385.3(TMEM237):c.75-8C>T
|
rs1274569461
|
0.00003
|
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)
|
rs534627748
|
0.00003
|
NM_001077418.3(TMEM231):c.771-4A>C
|
rs199768195
|
0.00003
|
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=)
|
rs1412070252
|
0.00003
|
NM_018718.3(CEP41):c.225C>T (p.Ser75=)
|
rs1402831101
|
0.00003
|
NM_018718.3(CEP41):c.33+9C>G
|
rs376019428
|
0.00003
|
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
|
rs782083906
|
0.00003
|
NM_018718.3(CEP41):c.643-6T>A
|
rs782610948
|
0.00003
|
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn)
|
rs782704307
|
0.00003
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
NM_001044385.3(TMEM237):c.274+18G>A
|
rs762194214
|
0.00002
|
NM_001044385.3(TMEM237):c.75-7G>A
|
rs1443411958
|
0.00002
|
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
|
rs934193386
|
0.00002
|
NM_001077418.3(TMEM231):c.140-35C>T
|
rs750621210
|
0.00002
|
NM_001077418.3(TMEM231):c.309+20G>T
|
rs1186787656
|
0.00002
|
NM_001077418.3(TMEM231):c.456G>A (p.Val152=)
|
rs571562822
|
0.00002
|
NM_001077418.3(TMEM231):c.582+9G>A
|
rs1266194059
|
0.00002
|
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
|
rs374440977
|
0.00002
|
NM_018718.3(CEP41):c.205C>T (p.Leu69=)
|
rs144793783
|
0.00002
|
NM_018718.3(CEP41):c.277+19G>A
|
rs377242873
|
0.00002
|
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
|
rs782303641
|
0.00002
|
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=)
|
rs770907860
|
0.00001
|
NM_001044385.3(TMEM237):c.1159+20G>A
|
rs1162670210
|
0.00001
|
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=)
|
rs1317494328
|
0.00001
|
NM_001044385.3(TMEM237):c.136+17T>C
|
rs1461794959
|
0.00001
|
NM_001044385.3(TMEM237):c.136+7C>T
|
rs768764111
|
0.00001
|
NM_001044385.3(TMEM237):c.42+15G>A
|
rs1461749315
|
0.00001
|
NM_001044385.3(TMEM237):c.43-6C>T
|
rs886974025
|
0.00001
|
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
|
rs1466574515
|
0.00001
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp)
|
rs750674092
|
0.00001
|
NM_001077418.3(TMEM231):c.139+24C>T
|
rs746632596
|
0.00001
|
NM_001077418.3(TMEM231):c.139+39G>T
|
rs1448302846
|
0.00001
|
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=)
|
rs1444231443
|
0.00001
|
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=)
|
rs751631216
|
0.00001
|
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=)
|
rs748111030
|
0.00001
|
NM_001077418.3(TMEM231):c.583-10C>T
|
rs774265542
|
0.00001
|
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=)
|
rs959165450
|
0.00001
|
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
|
rs750043051
|
0.00001
|
NM_001077418.3(TMEM231):c.770+18G>T
|
rs1413880610
|
0.00001
|
NM_001077418.3(TMEM231):c.771-6C>A
|
rs1160382019
|
0.00001
|
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
|
rs759314500
|
0.00001
|
NM_018718.3(CEP41):c.1053C>T (p.Gly351=)
|
rs782191360
|
0.00001
|
NM_018718.3(CEP41):c.146-18T>C
|
rs202065857
|
0.00001
|
NM_018718.3(CEP41):c.165T>C (p.Asp55=)
|
rs782085186
|
0.00001
|
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
|
rs1797202624
|
0.00001
|
NM_018718.3(CEP41):c.208-17A>G
|
rs1374383852
|
0.00001
|
NM_018718.3(CEP41):c.384C>T (p.Asn128=)
|
rs374535389
|
0.00001
|
NM_018718.3(CEP41):c.423-8A>G
|
rs1796893817
|
0.00001
|
NM_018718.3(CEP41):c.643-12T>C
|
rs782521409
|
0.00001
|
NM_018718.3(CEP41):c.678C>T (p.Asp226=)
|
rs545406161
|
0.00001
|
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
|
rs1796819118
|
0.00001
|
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
|
rs149052906
|
0.00001
|
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
|
rs781822221
|
0.00001
|
NM_018718.3(CEP41):c.753C>T (p.Ser251=)
|
rs200612684
|
0.00001
|
NM_018718.3(CEP41):c.973+11T>C
|
rs781847285
|
0.00001
|
NM_018718.3(CEP41):c.973+15C>T
|
rs979158941
|
0.00001
|
NM_018718.3(CEP41):c.974-8C>T
|
rs367692258
|
0.00001
|
NC_000016.9:g.(?_75573872)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75573891)_(75579393_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579403_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)dup
|
|
|
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
|
|
|
NM_001044385.3(TMEM237):c.1038-13T>C
|
|
|
NM_001044385.3(TMEM237):c.1038-16G>A
|
|
|
NM_001044385.3(TMEM237):c.1038-18G>C
|
rs1462537932
|
|
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
|
|
|
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
|
|
|
NM_001044385.3(TMEM237):c.1159+15A>C
|
|
|
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
|
|
|
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
|
|
|
NM_001044385.3(TMEM237):c.136+19T>C
|
rs2105903480
|
|
NM_001044385.3(TMEM237):c.136+20T>C
|
|
|
NM_001044385.3(TMEM237):c.137-14_137-13del
|
|
|
NM_001044385.3(TMEM237):c.137-17A>G
|
|
|
NM_001044385.3(TMEM237):c.137-19C>G
|
rs369430368
|
|
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=)
|
rs2105902384
|
|
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=)
|
rs2105902371
|
|
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=)
|
rs2105902357
|
|
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=)
|
rs377090903
|
|
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
|
|
|
NM_001044385.3(TMEM237):c.274+14C>G
|
|
|
NM_001044385.3(TMEM237):c.274+18G>C
|
|
|
NM_001044385.3(TMEM237):c.274+9A>G
|
|
|
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
|
|
|
NM_001044385.3(TMEM237):c.395+16T>C
|
|
|
NM_001044385.3(TMEM237):c.396-15A>G
|
|
|
NM_001044385.3(TMEM237):c.396-4A>G
|
|
|
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=)
|
rs1253365223
|
|
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=)
|
rs2105900286
|
|
NM_001044385.3(TMEM237):c.42+16C>G
|
rs2105906044
|
|
NM_001044385.3(TMEM237):c.42+18C>T
|
|
|
NM_001044385.3(TMEM237):c.42+7G>T
|
|
|
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
|
|
|
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
|
|
|
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=)
|
rs2105900225
|
|
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
|
rs1433478535
|
|
NM_001044385.3(TMEM237):c.554-3dup
|
rs778807445
|
|
NM_001044385.3(TMEM237):c.554-5C>T
|
|
|
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
|
rs2105899171
|
|
NM_001044385.3(TMEM237):c.677+18A>G
|
|
|
NM_001044385.3(TMEM237):c.678-13C>T
|
rs1957789089
|
|
NM_001044385.3(TMEM237):c.678-15C>A
|
|
|
NM_001044385.3(TMEM237):c.678-6A>G
|
|
|
NM_001044385.3(TMEM237):c.69G>T (p.Val23=)
|
rs2105904439
|
|
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
|
rs1957787811
|
|
NM_001044385.3(TMEM237):c.75-19G>A
|
|
|
NM_001044385.3(TMEM237):c.75-5G>A
|
|
|
NM_001044385.3(TMEM237):c.79+20A>T
|
rs745908076
|
|
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
|
|
|
NM_001044385.3(TMEM237):c.80-20C>T
|
rs753443048
|
|
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
|
|
|
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=)
|
rs2105898943
|
|
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
|
|
|
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)
|
rs2105898925
|
|
NM_001044385.3(TMEM237):c.869+11T>C
|
|
|
NM_001044385.3(TMEM237):c.869+15T>C
|
|
|
NM_001044385.3(TMEM237):c.869+16C>T
|
rs980158363
|
|
NM_001044385.3(TMEM237):c.869+8C>G
|
|
|
NM_001044385.3(TMEM237):c.870-4C>G
|
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NM_001044385.3(TMEM237):c.879T>C (p.Phe293=)
|
rs2105898446
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NM_001044385.3(TMEM237):c.943+15dup
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NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
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NM_001077418.3(TMEM231):c.-30C>A
|
rs2080810566
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NM_001077418.3(TMEM231):c.139+12C>T
|
rs937269706
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NM_001077418.3(TMEM231):c.139+39G>C
|
rs1448302846
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NM_001077418.3(TMEM231):c.139+48G>T
|
rs1234390023
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NM_001077418.3(TMEM231):c.139+9G>A
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NM_001077418.3(TMEM231):c.140-29C>T
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NM_001077418.3(TMEM231):c.140-2A>G
|
rs1216670609
|
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NM_001077418.3(TMEM231):c.140-47C>G
|
rs369232571
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NM_001077418.3(TMEM231):c.140-5C>T
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NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
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NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
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NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
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NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
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NM_001077418.3(TMEM231):c.202C>T (p.Leu68=)
|
rs781250253
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NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
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NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
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NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
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NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
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NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
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NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
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NM_001077418.3(TMEM231):c.255G>T (p.Thr85=)
|
rs2151710642
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NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
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NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
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NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
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NM_001077418.3(TMEM231):c.309+12C>T
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NM_001077418.3(TMEM231):c.310-15G>C
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rs2151703201
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NM_001077418.3(TMEM231):c.310-4C>G
|
rs2080685365
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NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
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NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
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NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
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NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)
|
rs775329522
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NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
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NM_001077418.3(TMEM231):c.396T>C (p.Val132=)
|
rs1187444555
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NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
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NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
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NM_001077418.3(TMEM231):c.417G>C (p.Leu139=)
|
rs2080683492
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NM_001077418.3(TMEM231):c.438+13G>A
|
rs780849828
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NM_001077418.3(TMEM231):c.438+13G>T
|
rs780849828
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NM_001077418.3(TMEM231):c.439-11A>G
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NM_001077418.3(TMEM231):c.439-20G>T
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NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
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NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
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NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
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NM_001077418.3(TMEM231):c.510A>G (p.Leu170=)
|
rs1335128278
|
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NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
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NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
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NM_001077418.3(TMEM231):c.582+17T>G
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NM_001077418.3(TMEM231):c.582+8C>T
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NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
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NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
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NM_001077418.3(TMEM231):c.665-13G>C
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NM_001077418.3(TMEM231):c.665-19G>T
|
rs200581224
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NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
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NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
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NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
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NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr)
|
rs1344067825
|
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NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
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NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
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NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val)
|
rs951457866
|
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NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
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NM_001077418.3(TMEM231):c.770+20G>A
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NM_001077418.3(TMEM231):c.771-17T>G
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NM_001077418.3(TMEM231):c.771-4A>G
|
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NM_001077418.3(TMEM231):c.792G>A (p.Glu264=)
|
rs754352443
|
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NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
|
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NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
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NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
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NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
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NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
|
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NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
|
rs1362332031
|
|
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
|
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|
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
|
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NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
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NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
|
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|
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
|
rs781793746
|
|
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
|
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|
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
|
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NM_018718.3(CEP41):c.1062C>T (p.Ala354=)
|
rs782552317
|
|
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
|
rs782746850
|
|
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
|
|
|
NM_018718.3(CEP41):c.114A>G (p.Lys38=)
|
rs1554421037
|
|
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
|
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|
NM_018718.3(CEP41):c.145+16G>C
|
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|
NM_018718.3(CEP41):c.145+16G>T
|
rs2117627031
|
|
NM_018718.3(CEP41):c.145+7A>G
|
|
|
NM_018718.3(CEP41):c.146-13C>T
|
rs782677555
|
|
NM_018718.3(CEP41):c.146-9A>G
|
rs372039618
|
|
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
|
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|
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
|
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|
NM_018718.3(CEP41):c.208-5A>T
|
|
|
NM_018718.3(CEP41):c.208-6T>C
|
|
|
NM_018718.3(CEP41):c.208-7C>G
|
rs782769113
|
|
NM_018718.3(CEP41):c.208-7C>T
|
rs782769113
|
|
NM_018718.3(CEP41):c.258G>A (p.Glu86=)
|
rs1309424611
|
|
NM_018718.3(CEP41):c.277+10del
|
rs782128369
|
|
NM_018718.3(CEP41):c.277+17G>A
|
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-9A>C
|
|
|
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
|
|
|
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
|
|
|
NM_018718.3(CEP41):c.33+10A>G
|
|
|
NM_018718.3(CEP41):c.33+16C>T
|
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|
NM_018718.3(CEP41):c.33+20C>A
|
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|
NM_018718.3(CEP41):c.34-14del
|
|
|
NM_018718.3(CEP41):c.34-17A>G
|
|
|
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
|
|
|
NM_018718.3(CEP41):c.411A>G (p.Ser137=)
|
rs1796949890
|
|
NM_018718.3(CEP41):c.423-4G>T
|
rs1554417330
|
|
NM_018718.3(CEP41):c.423-9C>G
|
|
|
NM_018718.3(CEP41):c.438T>G (p.Val146=)
|
|
|
NM_018718.3(CEP41):c.468G>A (p.Val156=)
|
rs1796891578
|
|
NM_018718.3(CEP41):c.513C>T (p.Cys171=)
|
rs922629262
|
|
NM_018718.3(CEP41):c.574+7G>C
|
|
|
NM_018718.3(CEP41):c.575-19C>T
|
|
|
NM_018718.3(CEP41):c.643-16del
|
rs2117556026
|
|
NM_018718.3(CEP41):c.643-7C>G
|
|
|
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
|
|
|
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
|
rs149052906
|
|
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
|
|
|
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
|
|
|
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
|
|
|
NM_018718.3(CEP41):c.757+16C>T
|
|
|
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
|
|
|
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
|
rs782120276
|
|
NM_018718.3(CEP41):c.867C>T (p.Pro289=)
|
rs782385841
|
|
NM_018718.3(CEP41):c.954A>G (p.Gln318=)
|
rs2117551629
|
|
NM_018718.3(CEP41):c.97+12T>G
|
|
|
NM_018718.3(CEP41):c.973+16C>A
|
rs2117551370
|
|
NM_018718.3(CEP41):c.973+8del
|
rs2117551461
|
|
NM_018718.3(CEP41):c.974-11G>T
|
|
|
NM_018718.3(CEP41):c.974-14C>T
|
|
|
NM_018718.3(CEP41):c.974-19TCTT[3]
|
|
|
NM_018718.3(CEP41):c.98-20A>G
|
|
|
NM_018718.3(CEP41):c.98-8C>A
|
rs782606521
|
|
NM_018718.3(CEP41):c.98-8C>T
|
|
|
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
|
|
|