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.*1107C>T

rs143516209

NM_001044385.3(TMEM237):c.*1588G>A


NM_001044385.3(TMEM237):c.*1975C>G


NM_001044385.3(TMEM237):c.*2137A>G


NM_001044385.3(TMEM237):c.*2142G>C

rs76042698

NM_001044385.3(TMEM237):c.*2180G>A


NM_001044385.3(TMEM237):c.*2349C>T


NM_001044385.3(TMEM237):c.*2431T>G

rs142355657

NM_001044385.3(TMEM237):c.*2480T>G

rs75655554

NM_001044385.3(TMEM237):c.*2719G>A

rs142852956

NM_001044385.3(TMEM237):c.*3124A>T


NM_001044385.3(TMEM237):c.*3372C>T

rs192214909

NM_001044385.3(TMEM237):c.*3453T>G

rs77771615

NM_001044385.3(TMEM237):c.*439G>A


NM_001044385.3(TMEM237):c.*634C>T


NM_001044385.3(TMEM237):c.25G>A

rs568671275

NM_001044385.3(TMEM237):c.103818G>C


NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)

rs149240122

NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)

rs138509553

NM_001044385.3(TMEM237):c.114G>A (p.Lys38=)

rs770907860

NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=)

rs773344011

NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=)

rs1317494328

NM_001044385.3(TMEM237):c.136+7C>T


NM_001044385.3(TMEM237):c.136+8G>A

rs200618675

NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)


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.24G>A (p.Arg8=)

rs377090903

NM_001044385.3(TMEM237):c.2759T>C


NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)

rs191125006

NM_001044385.3(TMEM237):c.405G>A (p.Gln135=)

rs370418884

NM_001044385.3(TMEM237):c.42+15G>A


NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)


NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)


NM_001044385.3(TMEM237):c.553+9A>T


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


NM_001044385.3(TMEM237):c.66T>A (p.Pro22=)

rs370010097

NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)


NM_001044385.3(TMEM237):c.67813C>T


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.758C>T

rs1274569461

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.858A>G (p.Ser286=)


NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)


NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)

rs200714434

NM_001077416.2(TMEM231):c.12G>A (p.Arg4=)

rs115739052

NM_001077418.3(TMEM231):c.15C>T

rs138060715

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.14015C>T

rs201518524

NM_001077418.3(TMEM231):c.14047C>G

rs369232571

NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)

rs201036290

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

rs774265542

NM_001077418.3(TMEM231):c.58320A>T

rs375984875

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.7714A>C

rs199768195

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.870C>T (p.Phe290=)

rs541349898

NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)


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.1791C>T (p.Ile597=)

rs150425546

NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)

rs41288017

NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)


NM_001134831.2(AHI1):c.2589G>A (p.Glu863=)

rs147279669

NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)

rs41288013

NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)

rs370400336

NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)

rs35851478

NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)

rs142381345

NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)

rs73559947

NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)

rs148000791

NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)

rs199708272

NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)

rs201148693

NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)

rs183936286

NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)

rs143522987

NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)


NM_001165927.1(MKS1):c.1558+12C>G

rs762501967

NM_001165927.1(MKS1):c.1570C>A (p.Arg524=)

rs772719574

NM_001165927.1(MKS1):c.50+325C>G

rs761061379

NM_001165927.1(MKS1):c.741G>A (p.Lys247=)

rs886038632

NM_018718.3(CEP41):c.*1336A>G


NM_018718.3(CEP41):c.*136T>G


NM_018718.3(CEP41):c.*1512C>T


NM_018718.3(CEP41):c.*1534T>C


NM_018718.3(CEP41):c.*1567A>C


NM_018718.3(CEP41):c.*2481T>A


NM_018718.3(CEP41):c.*2896G>A

rs147207980

NM_018718.3(CEP41):c.*392G>A


NM_018718.3(CEP41):c.*4314T>C

rs114939029

NM_018718.3(CEP41):c.*4594C>T


NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)

rs147444165

NM_018718.3(CEP41):c.102C>T (p.Asn34=)


NM_018718.3(CEP41):c.1050T>G (p.Gly350=)


NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)

rs116313397

NM_018718.3(CEP41):c.1080C>T (p.Arg360=)


NM_018718.3(CEP41):c.114A>G (p.Lys38=)

rs1554421037

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.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.277+10del


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

rs142452124

NM_018718.3(CEP41):c.357G>A (p.Ser119=)


NM_018718.3(CEP41):c.422+7G>A

rs190680511

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

rs371925259

NM_018718.3(CEP41):c.4238A>G


NM_018718.3(CEP41):c.510C>T (p.Asp170=)


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.705G>A (p.Ala235=)


NM_018718.3(CEP41):c.705G>T (p.Ala235=)


NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)

rs113941736

NM_018718.3(CEP41):c.723G>A (p.Glu241=)


NM_018718.3(CEP41):c.741C>T (p.Leu247=)


NM_018718.3(CEP41):c.786G>A (p.Pro262=)

rs782460743

NM_018718.3(CEP41):c.831C>T (p.Ala277=)


NM_018718.3(CEP41):c.867C>T (p.Pro289=)

rs782385841

NM_018718.3(CEP41):c.957G>A (p.Gly319=)


NM_018718.3(CEP41):c.973+15C>T


NM_018718.3(CEP41):c.973+8del


NM_018718.3(CEP41):c.9748C>T

rs367692258
