CEP41, 3BP 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.103818G>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.1373T>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.2752A>G

rs1574582671

NM_001044385.3(TMEM237):c.2759T>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.39613G>A


NM_001044385.3(TMEM237):c.39614C>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.55410G>A


NM_001044385.3(TMEM237):c.55415G>A

rs144051344

NM_001044385.3(TMEM237):c.5542_5541insT

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.67813C>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.7513T>C

rs116829037

NM_001044385.3(TMEM237):c.758C>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.8011T>C

rs76296365

NM_001044385.3(TMEM237):c.8018dup


NM_001044385.3(TMEM237):c.802A>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.87013_87012del

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.14015C>T

rs201518524

NM_001077418.3(TMEM231):c.14028C>G

rs375353411

NM_001077418.3(TMEM231):c.14030A>C


NM_001077418.3(TMEM231):c.14033C>G


NM_001077418.3(TMEM231):c.14047C>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.58310C>T

rs774265542

NM_001077418.3(TMEM231):c.58320A>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.66510T>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.7714A>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.115211T>G

rs113317693

NM_001134831.2(AHI1):c.11522A>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.16276A>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.178014C>T

rs2757645

NM_001134831.2(AHI1):c.17803T>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.20371G>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.26246A>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.27659T>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.296213G>A


NM_001134831.2(AHI1):c.29623T>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.34864A>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.11362A>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.13782A>G

rs1555596943

NM_001165927.1(MKS1):c.137834_13786del

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.14612A>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.16144G>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.720105T>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.9952A>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.14613C>T


NM_018718.3(CEP41):c.1469A>G


NM_018718.3(CEP41):c.186A>G (p.Lys62=)


NM_018718.3(CEP41):c.200C>T (p.Ala67Val)


NM_018718.3(CEP41):c.2085A>G

rs11765434

NM_018718.3(CEP41):c.2087C>G


NM_018718.3(CEP41):c.2087C>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.27815A>C

rs142452124

NM_018718.3(CEP41):c.27815A>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.342A>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.42318C>A

rs371925259

NM_018718.3(CEP41):c.4232A>C

rs781815473

NM_018718.3(CEP41):c.4232A>G


NM_018718.3(CEP41):c.4238A>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.57512T>C

rs186638258

NM_018718.3(CEP41):c.57514del

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.6436T>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.75814dup


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.9748C>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

