ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 748
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HGVS dbSNP
CEP41, 3-BP DEL, IVS1DS, 97GAG
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202466462)_(202508123_?)del
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000002.12:g.(?_201618900)_(201647825_?)del
NC_000007.13:g.(?_130038777_130039476del
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_001044385.3(TMEM237):c.*1008A>G
NM_001044385.3(TMEM237):c.*1107C>T rs143516209
NM_001044385.3(TMEM237):c.*1108A>G rs758086204
NM_001044385.3(TMEM237):c.*1148A>G
NM_001044385.3(TMEM237):c.*1151C>T rs188943302
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1330C>T
NM_001044385.3(TMEM237):c.*1378A>G rs886055443
NM_001044385.3(TMEM237):c.*1382C>T
NM_001044385.3(TMEM237):c.*1436G>T
NM_001044385.3(TMEM237):c.*1489G>C
NM_001044385.3(TMEM237):c.*1560C>T
NM_001044385.3(TMEM237):c.*1561G>A
NM_001044385.3(TMEM237):c.*1588G>A
NM_001044385.3(TMEM237):c.*1603T>G rs886055442
NM_001044385.3(TMEM237):c.*1606T>C
NM_001044385.3(TMEM237):c.*1655G>A
NM_001044385.3(TMEM237):c.*1762G>A rs886055441
NM_001044385.3(TMEM237):c.*1835C>T
NM_001044385.3(TMEM237):c.*1879G>A
NM_001044385.3(TMEM237):c.*1890G>A
NM_001044385.3(TMEM237):c.*1965G>A
NM_001044385.3(TMEM237):c.*1975C>G
NM_001044385.3(TMEM237):c.*2044T>C rs886055440
NM_001044385.3(TMEM237):c.*2137A>G
NM_001044385.3(TMEM237):c.*2141C>T rs147652455
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2180G>A
NM_001044385.3(TMEM237):c.*2307A>G
NM_001044385.3(TMEM237):c.*2349C>T
NM_001044385.3(TMEM237):c.*2431T>G rs142355657
NM_001044385.3(TMEM237):c.*2448C>A
NM_001044385.3(TMEM237):c.*2465A>G rs527921749
NM_001044385.3(TMEM237):c.*2480T>G rs75655554
NM_001044385.3(TMEM237):c.*2495C>G
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C
NM_001044385.3(TMEM237):c.*2652A>G
NM_001044385.3(TMEM237):c.*2670C>T
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*2719G>A rs142852956
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*2960C>A rs188637429
NM_001044385.3(TMEM237):c.*2964T>A
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T
NM_001044385.3(TMEM237):c.*308T>G rs185380807
NM_001044385.3(TMEM237):c.*3123T>A
NM_001044385.3(TMEM237):c.*3124A>T
NM_001044385.3(TMEM237):c.*3350A>T
NM_001044385.3(TMEM237):c.*3372C>T rs192214909
NM_001044385.3(TMEM237):c.*3385C>T rs374762322
NM_001044385.3(TMEM237):c.*3453T>G rs77771615
NM_001044385.3(TMEM237):c.*3517A>G
NM_001044385.3(TMEM237):c.*3697G>A rs761856568
NM_001044385.3(TMEM237):c.*3728A>G rs555315551
NM_001044385.3(TMEM237):c.*3855A>G rs187328136
NM_001044385.3(TMEM237):c.*3992A>G
NM_001044385.3(TMEM237):c.*3997A>G
NM_001044385.3(TMEM237):c.*3C>A
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*439G>A
NM_001044385.3(TMEM237):c.*492T>C rs530304720
NM_001044385.3(TMEM237):c.*564T>C
NM_001044385.3(TMEM237):c.*62A>G
NM_001044385.3(TMEM237):c.*634C>T
NM_001044385.3(TMEM237):c.*663G>C
NM_001044385.3(TMEM237):c.*74T>C
NM_001044385.3(TMEM237):c.*781G>A
NM_001044385.3(TMEM237):c.*895C>G
NM_001044385.3(TMEM237):c.*940A>C
NM_001044385.3(TMEM237):c.*962A>C
NM_001044385.3(TMEM237):c.*969A>G
NM_001044385.3(TMEM237):c.*987C>T rs568084746
NM_001044385.3(TMEM237):c.-12G>A rs113186360
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.-59G>A rs886055449
NM_001044385.3(TMEM237):c.-61G>A rs571550977
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
NM_001044385.3(TMEM237):c.1038-18G>C
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=)
NM_001044385.3(TMEM237):c.136+1G>T
NM_001044385.3(TMEM237):c.136+7C>T
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.137-3T>C
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
NM_001044385.3(TMEM237):c.275-2A>G rs1574582671
NM_001044385.3(TMEM237):c.275-9T>C
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.396-13G>A
NM_001044385.3(TMEM237):c.396-14C>T rs74411816
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.42+15G>A
NM_001044385.3(TMEM237):c.42+1G>A
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
NM_001044385.3(TMEM237):c.553+1G>A
NM_001044385.3(TMEM237):c.553+2dup
NM_001044385.3(TMEM237):c.553+3dup
NM_001044385.3(TMEM237):c.553+9A>T
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
NM_001044385.3(TMEM237):c.554-10G>A
NM_001044385.3(TMEM237):c.554-15G>A rs144051344
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
NM_001044385.3(TMEM237):c.677+1G>A rs793888505
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.678-13C>T
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989
NM_001044385.3(TMEM237):c.74+15C>T rs375401635
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
NM_001044385.3(TMEM237):c.75-13T>C rs116829037
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650
NM_001044385.3(TMEM237):c.79+8del
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001044385.3(TMEM237):c.80-18dup
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)
NM_001044385.3(TMEM237):c.869+10A>G rs376868416
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001044385.3(TMEM237):c.869+1del
NM_001044385.3(TMEM237):c.869+4A>G
NM_001044385.3(TMEM237):c.869+5T>C
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val)
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) rs1176007249
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys)
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609
NM_001077418.3(TMEM231):c.-15C>T rs138060715
NM_001077418.3(TMEM231):c.-40C>G rs114889548
NM_001077418.3(TMEM231):c.-6G>C rs3743602
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092
NM_001077418.3(TMEM231):c.139+39G>C
NM_001077418.3(TMEM231):c.139+42G>A
NM_001077418.3(TMEM231):c.139+47C>A rs200063331
NM_001077418.3(TMEM231):c.140-15C>T rs201518524
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.140-30A>C
NM_001077418.3(TMEM231):c.140-33C>G
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
NM_001077418.3(TMEM231):c.438+5G>C
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741
NM_001077418.3(TMEM231):c.582+17T>A rs2738801
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+6A>G rs376300743
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.583-20A>T rs375984875
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
NM_001077418.3(TMEM231):c.664+4A>G rs760426025
NM_001077418.3(TMEM231):c.665-10T>C
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+3A>G
NM_001077418.3(TMEM231):c.771-4A>C rs199768195
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1146T>A
NM_001134831.2(AHI1):c.*1288T>C rs886061103
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1327C>T
NM_001134831.2(AHI1):c.*1404A>G
NM_001134831.2(AHI1):c.*1426A>T rs886061101
NM_001134831.2(AHI1):c.*1568A>T
NM_001134831.2(AHI1):c.*1646T>C rs886061100
NM_001134831.2(AHI1):c.*1684T>C
NM_001134831.2(AHI1):c.*216G>A
NM_001134831.2(AHI1):c.*218C>T rs1052502
NM_001134831.2(AHI1):c.*246T>C
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*387T>G rs886061107
NM_001134831.2(AHI1):c.*484G>A
NM_001134831.2(AHI1):c.*588A>G rs555215397
NM_001134831.2(AHI1):c.*68C>T rs886061108
NM_001134831.2(AHI1):c.*793A>G rs191324834
NM_001134831.2(AHI1):c.*80C>T rs536580823
NM_001134831.2(AHI1):c.*981C>T
NM_001134831.2(AHI1):c.-214C>T rs183265971
NM_001134831.2(AHI1):c.-299G>A rs113052089
NM_001134831.2(AHI1):c.-332C>G
NM_001134831.2(AHI1):c.-347C>T
NM_001134831.2(AHI1):c.-53A>G
NM_001134831.2(AHI1):c.-54G>T
NM_001134831.2(AHI1):c.10+13T>C
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.1152-2A>G rs753085250
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842
NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1326del (p.Val443fs)
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs)
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
NM_001134831.2(AHI1):c.1614del (p.Val539fs) rs863225141
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr)
NM_001134831.2(AHI1):c.1622A>G (p.Asp541Gly)
NM_001134831.2(AHI1):c.1626+1G>A rs863225137
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer)
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641
NM_001134831.2(AHI1):c.1780-14C>T rs2757645
NM_001134831.2(AHI1):c.1780-3T>C
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.189+12T>C
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs) rs863225132
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496
NM_001134831.2(AHI1):c.1912+15T>G
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter) rs764412921
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=)
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) rs541041911
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn) rs863225145
NM_001134831.2(AHI1):c.2036+1G>T rs776093293
NM_001134831.2(AHI1):c.2037-1G>C
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2172del (p.Trp725fs) rs755407014
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
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.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys) rs863225146
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys)
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=)
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2492+15G>A rs535243555
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs) rs587783014
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) rs368788993
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del) rs1583179812
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2765-9T>C rs374852342
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336
NM_001134831.2(AHI1):c.2962-13G>A
NM_001134831.2(AHI1):c.2962-3T>C rs369713977
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys)
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3109+14T>A
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala)
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln)
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.3426+13G>A rs6914831
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)
NM_001134831.2(AHI1):c.459A>C (p.Thr153=)
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741
NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala) rs745809472
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1136-2A>G rs1488635637
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile) rs760184188
NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del) rs1555597302
NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal) rs1555597266
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1364del (p.Pro455fs) rs865870355
NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT rs1555597194
NM_001165927.1(MKS1):c.1378-2A>G rs1555596943
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs) rs1555596845
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1461-2A>G rs886038203
NM_001165927.1(MKS1):c.1467del (p.Phe489fs) rs780161503
NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs) rs1555596710
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.154_160del (p.Thr52fs) rs386834046
NM_001165927.1(MKS1):c.1558+12C>G rs762501967
NM_001165927.1(MKS1):c.1558+1G>T rs886038204
NM_001165927.1(MKS1):c.1570C>A (p.Arg524=) rs772719574
NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter) rs772719574
NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys) rs35464956
NM_001165927.1(MKS1):c.1584del (p.Met529fs) rs1555596555
NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter) rs1555596538
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.161-44G>A rs73329636
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.231+67A>G rs7225148
NM_001165927.1(MKS1):c.337dup (p.Arg113fs) rs775043799
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter) rs756853299
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001165927.1(MKS1):c.485+2T>G rs1376664664
NM_001165927.1(MKS1):c.50+198_50+220del rs1244307754
NM_001165927.1(MKS1):c.50+232A>G rs1555601787
NM_001165927.1(MKS1):c.50+282_50+286dup rs386834051
NM_001165927.1(MKS1):c.50+313T>C rs386834052
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.720-105T>C rs3744105
NM_001165927.1(MKS1):c.741G>A (p.Lys247=) rs886038632
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser) rs587779734
NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter) rs797045706
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165927.1(MKS1):c.828+1G>A rs756102768
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) rs199832333
NM_001165927.1(MKS1):c.994+128C>T rs72839966
NM_001165927.1(MKS1):c.994+1G>A rs199874059
NM_001165927.1(MKS1):c.995-2A>C rs794727070
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017651.4(AHI1):c.-293G>T rs13197384
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
NM_018718.3(CEP41):c.*1056A>C rs574982700
NM_018718.3(CEP41):c.*1191G>A
NM_018718.3(CEP41):c.*1205G>T
NM_018718.3(CEP41):c.*1284A>G
NM_018718.3(CEP41):c.*1328T>A
NM_018718.3(CEP41):c.*1336A>G
NM_018718.3(CEP41):c.*1341A>C
NM_018718.3(CEP41):c.*1352G>A
NM_018718.3(CEP41):c.*136T>G
NM_018718.3(CEP41):c.*1385T>G rs781845516
NM_018718.3(CEP41):c.*1411G>T rs886061996
NM_018718.3(CEP41):c.*1512C>T
NM_018718.3(CEP41):c.*1534T>C
NM_018718.3(CEP41):c.*1538A>C
NM_018718.3(CEP41):c.*1567A>C
NM_018718.3(CEP41):c.*1579T>C rs554826749
NM_018718.3(CEP41):c.*1644A>G
NM_018718.3(CEP41):c.*1646G>A
NM_018718.3(CEP41):c.*1766T>C
NM_018718.3(CEP41):c.*1768G>T
NM_018718.3(CEP41):c.*1773A>G
NM_018718.3(CEP41):c.*1859G>T rs73152869
NM_018718.3(CEP41):c.*1931C>T rs17133175
NM_018718.3(CEP41):c.*1974A>G
NM_018718.3(CEP41):c.*1981G>A
NM_018718.3(CEP41):c.*2041G>A rs73152868
NM_018718.3(CEP41):c.*2111A>G
NM_018718.3(CEP41):c.*2116T>C
NM_018718.3(CEP41):c.*2159C>T rs886061995
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C
NM_018718.3(CEP41):c.*2226G>A
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2389G>A rs73152867
NM_018718.3(CEP41):c.*2481T>A
NM_018718.3(CEP41):c.*2482A>T rs189091601
NM_018718.3(CEP41):c.*2605C>T rs886061992
NM_018718.3(CEP41):c.*2669A>G
NM_018718.3(CEP41):c.*2709G>A
NM_018718.3(CEP41):c.*2725C>T
NM_018718.3(CEP41):c.*277A>G rs886062001
NM_018718.3(CEP41):c.*2781A>G
NM_018718.3(CEP41):c.*2786A>C
NM_018718.3(CEP41):c.*2849A>G
NM_018718.3(CEP41):c.*287C>T
NM_018718.3(CEP41):c.*2896G>A rs147207980
NM_018718.3(CEP41):c.*3040G>A
NM_018718.3(CEP41):c.*3044A>G rs886061991
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3097T>C
NM_018718.3(CEP41):c.*3193C>T rs886061989
NM_018718.3(CEP41):c.*3274G>A rs112007936
NM_018718.3(CEP41):c.*333C>T rs886062000
NM_018718.3(CEP41):c.*3451G>A rs144534675
NM_018718.3(CEP41):c.*3507C>T rs149385617
NM_018718.3(CEP41):c.*3541G>A
NM_018718.3(CEP41):c.*3708A>T
NM_018718.3(CEP41):c.*3765G>T rs138768326
NM_018718.3(CEP41):c.*3783T>C
NM_018718.3(CEP41):c.*3856C>T
NM_018718.3(CEP41):c.*3887C>G rs62471754
NM_018718.3(CEP41):c.*392G>A
NM_018718.3(CEP41):c.*3965A>G rs781992723
NM_018718.3(CEP41):c.*4007C>T rs782719854
NM_018718.3(CEP41):c.*4037A>G rs7793239
NM_018718.3(CEP41):c.*409A>C rs782042681
NM_018718.3(CEP41):c.*4216C>T rs187549864
NM_018718.3(CEP41):c.*4244C>G rs544508687
NM_018718.3(CEP41):c.*4295G>C rs4728195
NM_018718.3(CEP41):c.*4314T>C rs114939029
NM_018718.3(CEP41):c.*4322G>A
NM_018718.3(CEP41):c.*4343C>G
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4385C>T
NM_018718.3(CEP41):c.*4391G>A rs782450438
NM_018718.3(CEP41):c.*4417G>A rs886061988
NM_018718.3(CEP41):c.*4464T>C rs886061987
NM_018718.3(CEP41):c.*4505G>T
NM_018718.3(CEP41):c.*4539C>T
NM_018718.3(CEP41):c.*4594C>T
NM_018718.3(CEP41):c.*4595G>A
NM_018718.3(CEP41):c.*4599A>G rs753024852
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4714T>C
NM_018718.3(CEP41):c.*4769C>T
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.*4908G>A rs552988501
NM_018718.3(CEP41):c.*4973C>T rs760160179
NM_018718.3(CEP41):c.*4994T>C rs527933839
NM_018718.3(CEP41):c.*5068G>A rs148856430
NM_018718.3(CEP41):c.*5102G>A rs1990790
NM_018718.3(CEP41):c.*55G>A
NM_018718.3(CEP41):c.*578T>C
NM_018718.3(CEP41):c.*593G>A rs186685101
NM_018718.3(CEP41):c.*614A>G
NM_018718.3(CEP41):c.*655C>T
NM_018718.3(CEP41):c.*680G>A rs146622910
NM_018718.3(CEP41):c.*682A>G
NM_018718.3(CEP41):c.*705G>A rs782543502
NM_018718.3(CEP41):c.*740C>T
NM_018718.3(CEP41):c.*747G>A rs782582354
NM_018718.3(CEP41):c.*776G>A
NM_018718.3(CEP41):c.*805A>G rs145808545
NM_018718.3(CEP41):c.*832A>C
NM_018718.3(CEP41):c.*859G>A rs781930185
NM_018718.3(CEP41):c.*881G>A
NM_018718.3(CEP41):c.*927T>C
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.-5A>C rs2287371
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
NM_018718.3(CEP41):c.145+3A>G
NM_018718.3(CEP41):c.145+5G>A
NM_018718.3(CEP41):c.145+6del
NM_018718.3(CEP41):c.146-13C>T
NM_018718.3(CEP41):c.146-9A>G
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.208-7C>G
NM_018718.3(CEP41):c.208-7C>T
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.277+10del
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.34-2A>G
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+6C>T rs199678365
NM_018718.3(CEP41):c.422+7G>A rs190680511
NM_018718.3(CEP41):c.423-18C>A rs371925259
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G
NM_018718.3(CEP41):c.423-8A>G
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
NM_018718.3(CEP41):c.575-12T>C rs186638258
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
NM_018718.3(CEP41):c.643-6T>A
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429
NM_018718.3(CEP41):c.757+11T>C
NM_018718.3(CEP41):c.758-14dup
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
NM_018718.3(CEP41):c.973+15C>T
NM_018718.3(CEP41):c.973+404_1077del
NM_018718.3(CEP41):c.973+8del
NM_018718.3(CEP41):c.974-8C>T rs367692258
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
Single allele

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