NM_001012759.3(CTU2):c.188T>C (p.Leu63Pro)
|
rs147948789
|
0.00061
|
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)
|
rs1553277702
|
0.00028
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_001195305.3(BBIP1):c.38-6T>C
|
rs541703290
|
0.00013
|
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)
|
rs373804633
|
0.00007
|
NM_001673.5(ASNS):c.1211G>A (p.Arg404His)
|
rs774808316
|
0.00004
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_001553.3(IGFBP7):c.829G>A (p.Gly277Ser)
|
rs764942670
|
0.00002
|
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)
|
rs587779351
|
0.00002
|
NM_153209.4(KIF19):c.788G>A (p.Arg263His)
|
rs538632717
|
0.00002
|
NM_174912.4(FAAH2):c.1175G>A (p.Trp392Ter)
|
rs1333565102
|
0.00002
|
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
NM_000618.5(IGF1):c.292C>T (p.Arg98Trp)
|
rs587779350
|
0.00001
|
NM_001077418.3(TMEM231):c.316G>A (p.Glu106Lys)
|
rs2080685279
|
0.00001
|
NM_001198800.3(ASCC1):c.871+1G>A
|
rs763845791
|
0.00001
|
NM_001931.5(DLAT):c.975G>A (p.Pro325=)
|
rs1432866316
|
0.00001
|
NM_012200.4(B3GAT3):c.245C>T (p.Pro82Leu)
|
rs755601885
|
0.00001
|
NM_012434.5(SLC17A5):c.1111+1G>A
|
rs777862172
|
0.00001
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00001
|
NM_024706.5(ZNF668):c.1111C>T (p.Arg371Ter)
|
rs1178162893
|
0.00001
|
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)
|
rs201791586
|
0.00001
|
NC_000002.11:g.(215928788_?)del
|
|
|
NC_000012.11:g.113120652_115362584del
|
|
|
NC_000013.10:g.99162946_101376965del
|
|
|
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
|
|
|
NC_000018.9:g.43547114_43604673del
|
|
|
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)
|
rs587779349
|
|
NM_000126.4(ETFA):c.*27_*30del
|
rs2142101078
|
|
NM_000213.5(ITGB4):c.3793+1G>C
|
rs147222357
|
|
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)
|
rs2147180935
|
|
NM_000286.3(PEX12):c.308dup (p.Leu103fs)
|
rs61752101
|
|
NM_000308.4(CTSA):c.595del (p.Leu199fs)
|
rs786205670
|
|
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln)
|
rs1971845337
|
|
NM_000414.4(HSD17B4):c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT
|
rs2126689896
|
|
NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del)
|
rs2116220949
|
|
NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter)
|
rs1281995042
|
|
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)
|
rs1057517173
|
|
NM_000537.4(REN):c.299_300del (p.Lys100fs)
|
rs2102314045
|
|
NM_001012759.3(CTU2):c.1206dup (p.Ala403fs)
|
rs1597434884
|
|
NM_001012759.3(CTU2):c.1514_1517del (p.Ile505fs)
|
rs779980669
|
|
NM_001012759.3(CTU2):c.282+5G>A
|
rs1351549465
|
|
NM_001042646.3(TRAK1):c.1759dup (p.His587fs)
|
rs1559390743
|
|
NM_001077365.2(POMT1):c.1175+3del
|
rs2131708682
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)
|
rs369797361
|
|
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=)
|
rs2106324466
|
|
NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs)
|
rs2136171586
|
|
NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del)
|
rs2135826994
|
|
NM_001089.3(ABCA3):c.3235C>T (p.Gln1079Ter)
|
rs2141696548
|
|
NM_001098426.2(SMARCD2):c.1429C>T (p.Arg477Ter)
|
rs1567760022
|
|
NM_001101426.4(CRPPA):c.790-1G>C
|
rs2128422954
|
|
NM_001127255.2(NLRP7):c.1857_1858delAC (p.Lys619Asnfs)
|
rs2069070395
|
|
NM_001134831.2(AHI1):c.1326del (p.Val443fs)
|
rs1788834778
|
|
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)
|
rs587776895
|
|
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter)
|
rs1484029774
|
|
NM_001164508.2(NEB):c.16909-1G>A
|
rs2153806528
|
|
NM_001164508.2(NEB):c.20976del (p.Val6993fs)
|
rs1559680233
|
|
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)
|
rs786205645
|
|
NM_001244710.2(GFPT1):c.686-1G>A
|
rs2104647624
|
|
NM_001277115.2(DNAH11):c.9685C>T (p.Arg3229Trp)
|
rs886536075
|
|
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)
|
rs886039809
|
|
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del
|
|
|
NM_001353812.2(ATP11C):c.1666+2T>C
|
rs2148723294
|
|
NM_001371596.2(MFSD8):c.1354_1369del (p.Gly451_Val452insTer)
|
rs2148837382
|
|
NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys)
|
rs1860716899
|
|
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs)
|
rs1674946144
|
|
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter)
|
rs1671885850
|
|
NM_001382422.1(EXOC3L2):c.1301T>A (p.Leu434Gln)
|
rs2122975686
|
|
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)
|
rs730882250
|
|
NM_001384125.1(BLTP1):c.11514-1G>A
|
rs2150047294
|
|
NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter)
|
rs1787740370
|
|
NM_002085.5(GPX4):c.502-1del
|
rs1555716575
|
|
NM_002444.3(MSN):c.1056del (p.Lys352fs)
|
rs2147518591
|
|
NM_002474.3(MYH11):c.1033+1G>A
|
rs112534511
|
|
NM_002772.3(TMPRSS15):c.2808_2809insATCA (p.Ser937fs)
|
rs2146856395
|
|
NM_003560.4(PLA2G6):c.1125del (p.Val376fs)
|
rs2145753620
|
|
NM_003611.3(OFD1):c.1246del (p.Gln416fs)
|
rs886039813
|
|
NM_003632.3(CNTNAP1):c.2515C>T (p.Arg839Trp)
|
rs757375034
|
|
NM_004035.7(ACOX1):c.431-1G>A
|
rs773710550
|
|
NM_004239.4(TRIP11):c.4459_4460del (p.Met1487fs)
|
rs2140115541
|
|
NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val)
|
rs2056449254
|
|
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter)
|
rs2140131376
|
|
NM_005996.4(TBX3):c.1920_1921dup (p.Pro641fs)
|
rs1565858163
|
|
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter)
|
rs587779355
|
|
NM_006642.5(SDCCAG8):c.741-152G>A
|
rs2072310236
|
|
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter)
|
rs921785357
|
|
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs)
|
rs753141230
|
|
NM_012464.5(TLL1):c.1379-2A>G
|
rs1579663872
|
|
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)
|
rs587779356
|
|
NM_014171.6(CRIPT):c.141del (p.Phe47fs)
|
rs587779348
|
|
NM_014236.4(GNPAT):c.569-3T>G
|
rs745869264
|
|
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)
|
rs2118494165
|
|
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter)
|
rs201406974
|
|
NM_015231.3(NUP160):c.1077+5G>A
|
rs2135385033
|
|
NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter)
|
rs2149323575
|
|
NM_015910.7(WDPCP):c.2078+1G>T
|
rs1673664656
|
|
NM_016417.3(GLRX5):c.197A>C (p.Gln66Pro)
|
rs2139646713
|
|
NM_016464.5(TMEM138):c.377-3C>G
|
rs774110963
|
|
NM_017714.3(TASP1):c.701C>T (p.Thr234Met)
|
rs904200599
|
|
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter)
|
rs786205508
|
|
NM_017777.4(MKS1):c.1126dup (p.Thr376fs)
|
rs2143753386
|
|
NM_017777.4(MKS1):c.261+2T>A
|
rs886039803
|
|
NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter)
|
rs1297300713
|
|
NM_024312.5(GNPTAB):c.3653del (p.Thr1218fs)
|
rs2137097782
|
|
NM_024649.5(BBS1):c.1424dup (p.Ser476fs)
|
rs886039798
|
|
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
|
rs1856010874
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_024706.5(ZNF668):c.955C>T (p.Gln319Ter)
|
rs2143756208
|
|
NM_024753.5(TTC21B):c.1176_1185+1del
|
rs1686809735
|
|
NM_024926.4(IFT56):c.4-1G>C
|
rs2130770516
|
|
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)
|
rs886039808
|
|
NM_025114.4(CEP290):c.673_674del (p.Leu225fs)
|
rs886039805
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser)
|
rs2125700641
|
|
NM_033028.4:r.[118_261del;118_373del]
|
|
|
NM_033028.5(BBS4):c.1226del (p.Ser409fs)
|
rs886039800
|
|
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)
|
rs886039802
|
|
NM_052989.3(IFT122):c.2375+2T>C
|
rs786205567
|
|
NM_080680.3(COL11A2):c.1871dup (p.Gly625fs)
|
rs1455983505
|
|
NM_144772.3(NAXE):c.262G>T (p.Gly88Trp)
|
rs2102489248
|
|
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs)
|
rs2108843144
|
|
NM_152296.5(ATP1A3):c.1165G>A (p.Glu389Lys)
|
rs1555863623
|
|
NM_152296.5(ATP1A3):c.2407G>A (p.Gly803Ser)
|
rs2075090666
|
|
NM_152773.5(DYNLT2B):c.317+4A>T
|
rs886039815
|
|
NM_153033.5(KCTD7):c.696del (p.Phe232fs)
|
rs2116775509
|
|
NM_153209.4(KIF19):c.1906T>G (p.Tyr636Asp)
|
rs777983592
|
|
NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter)
|
rs1265664823
|
|
NM_153704.6(TMEM67):c.2306del (p.Leu769fs)
|
rs2130757733
|
|
NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr)
|
rs748937483
|
|
NM_153717.3(EVC):c.922_923del (p.Glu308fs)
|
rs1729200967
|
|
NM_174916.3(UBR1):c.4054-2A>G
|
rs780491123
|
|
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs)
|
rs1725961307
|
|
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs)
|
rs1725388372
|
|
NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys)
|
rs1350475816
|
|
NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter)
|
rs998162536
|
|
NM_198428.3(BBS9):c.2115+1G>A
|
rs886039801
|
|
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)
|
rs749974697
|
|
NM_198428.3(BBS9):c.956del (p.Thr319fs)
|
rs886039799
|
|
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter)
|
rs2138066721
|
|