ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16506
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His) rs61893682 0.00255
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr) rs150681845 0.00170
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001354587.1(ANKRD36):c.2479-1G>A rs200852589 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_014994.3(MAPKBP1):c.3304C>T (p.Arg1102Cys) rs141086610 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val) rs145160241 0.00038
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_022124.6(CDH23):c.2587+35C>T rs186492861 0.00026
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser) rs148259590 0.00024
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter) rs200462584 0.00022
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu) rs145970949 0.00022
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg) rs192420947 0.00021
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) rs201088712 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213 0.00017
NM_003937.3(KYNU):c.256dup (p.Tyr86fs) rs550079487 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter) rs140611214 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_001080442.3(SLC38A8):c.388+5G>A rs760391436 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_004407.4(DMP1):c.135+1G>T rs141480996 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=) rs561557630 0.00012
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_213599.3(ANO5):c.2273G>A (p.Arg758His) rs369058382 0.00012
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001194998.2(CEP152):c.3249del (p.Val1084fs) rs754267846 0.00010
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) rs148920986 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys) rs540217942 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000360.4(TH):c.1358G>A (p.Arg453His) rs759599321 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp) rs141257714 0.00009
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001382391.1(CSPP1):c.2128+1G>A rs199791452 0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006618.5(KDM5B):c.2474+1G>A rs542983923 0.00009
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00009
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_003937.3(KYNU):c.902+1G>A rs754953201 0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln) rs772697259 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val) rs369901030 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp) rs72653784 0.00007
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006736.6(DNAJB2):c.175+2T>A rs562669797 0.00007
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu) rs201392711 0.00007
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser) rs143192660 0.00007
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) rs143353451 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001267550.2(TTN):c.39895+1G>T rs749931280 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384474.1(LOXHD1):c.4376-2A>G rs886043616 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) rs756541797 0.00006
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp) rs751375244 0.00006
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val) rs201518227 0.00006
NM_015910.7(WDPCP):c.209-1G>A rs767481770 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser) rs371730430 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_018451.5(CENPJ):c.1696C>T (p.Arg566Ter) rs138228629 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) rs757163581 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_183065.4(TMEM107):c.*686A>G rs201558321 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.1A>G (p.Met1Val) rs924627806 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000091.5(COL4A3):c.1992del (p.Gly665fs) rs751677704 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter) rs104894172 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891 0.00005
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp) rs778769841 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001101426.4(CRPPA):c.835+2T>C rs773325665 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys) rs767778853 0.00005
NM_001267550.2(TTN):c.36310G>T (p.Glu12104Ter) rs1455879402 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_004260.4(RECQL4):c.2650del (p.Gln884fs) rs1203766600 0.00005
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) rs374583073 0.00005
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699 0.00005
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_022098.4(XPNPEP3):c.856-2A>G rs149609214 0.00005
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met) rs147267500 0.00005
NR_003051.3(RMRP):n.-19_-13dup rs1554651506 0.00005
NC_000017.11:g.8002596T>C rs774980016 0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000271.5(NPC1):c.1166G>A (p.Arg389His) rs373751051 0.00004
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000277.3(PAH):c.1238G>A (p.Arg413His) rs79931499 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.925G>T (p.Ala309Ser) rs1205657950 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter) rs151235136 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001031679.3(MSRB3):c.77-2A>G rs145704693 0.00004
NM_001034852.3(SMOC1):c.584-2A>G rs772178551 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) rs770749420 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.600+1G>A rs1187315015 0.00004
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser) rs775633137 0.00004
NM_001194998.2(CEP152):c.972+2T>A rs766194658 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) rs561122654 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu) rs751663397 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) rs752441031 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln) rs140376902 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter) rs371560438 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys) rs756363870 0.00004
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) rs200089121 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014956.5(CEP164):c.1669dup (p.Glu557fs) rs749114363 0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter) rs562932233 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter) rs201230582 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_032040.5(CCDC8):c.963del (p.Ala323fs) rs746873023 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile) rs761543680 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu) rs760831781 0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00004
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu) rs371994634 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_203486.3(DLL3):c.945_946del (p.Ala317fs) rs786200900 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.1972-1G>A rs372927796 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met) rs760792371 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NR_003051.3(RMRP):n.-25_-3dup rs1554651413 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln) rs779439298 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000082.4(ERCC8):c.399+1G>A rs774047625 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) rs746125212 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg) rs899227425 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000232.5(SGCB):c.85A>T (p.Arg29Ter) rs747809412 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) rs781916427 0.00003
NM_000260.4(MYO7A):c.2905-1G>A rs1171417339 0.00003
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) rs752255985 0.00003
NM_000277.3(PAH):c.125A>G (p.Lys42Arg) rs62635346 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.428A>T (p.Asp143Val) rs199475572 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.886G>A (p.Asp296Asn) rs765934604 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000288.4(PEX7):c.116A>C (p.His39Pro) rs61753237 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000317.3(PTS):c.243_243+1dup rs866922524 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg) rs757483045 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.551C>G (p.Ser184Ter) rs367543066 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter) rs370866589 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln) rs1060501346 0.00003
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001083961.2(WDR62):c.3335+3A>G rs587784554 0.00003
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr) rs63750146 0.00003
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter) rs779260568 0.00003
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718 0.00003
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) rs979094623 0.00003
NM_001267550.2(TTN):c.40723+1G>T rs371770198 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter) rs542074139 0.00003
NM_001267550.2(TTN):c.8902+1G>A rs770392096 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter) rs778734749 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_001329943.3(KIAA0586):c.411-1486G>A rs982449380 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001384474.1(LOXHD1):c.760-2del rs770408532 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002292.4(LAMB2):c.249+1G>A rs779317615 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter) rs762396810 0.00003
NM_003193.5(TBCE):c.143_144del (p.Lys48fs) rs758937799 0.00003
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln) rs1313593155 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003504.5(CDC45):c.1021C>T (p.Arg341Trp) rs540900837 0.00003
NM_003801.4(GPAA1):c.1165-1C>T rs187027021 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004539.4(NARS1):c.50C>T (p.Thr17Met) rs148893823 0.00003
NM_005529.7(HSPG2):c.4955+3A>T rs769130391 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006642.5(SDCCAG8):c.1985+1G>T rs752046196 0.00003
NM_006642.5(SDCCAG8):c.220+2T>C rs757796329 0.00003
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410 0.00003
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) rs770582052 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter) rs904572688 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014875.3(KIF14):c.3661+1G>T rs151249558 0.00003
NM_015102.5(NPHP4):c.2611+1G>A rs374141736 0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys) rs376296747 0.00003
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718 0.00003
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu) rs774456004 0.00003
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr) rs747175448 0.00003
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter) rs775868003 0.00003
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys) rs755588045 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) rs140583554 0.00003
NM_018075.5(ANO10):c.139+1G>T rs777450156 0.00003
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter) rs370121773 0.00003
NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter) rs201822162 0.00003
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter) rs374645146 0.00003
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020921.4(NIN):c.6115C>T (p.Arg2039Ter) rs373844676 0.00003
NM_021971.4(GMPPB):c.760G>A (p.Val254Met) rs875989850 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp) rs749330118 0.00003
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter) rs757311669 0.00003
NM_025074.7(FRAS1):c.8604+5G>A rs200282443 0.00003
NM_031471.6(FERMT3):c.1312-2A>C rs760261349 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) rs369793306 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_170784.3(MKKS):c.749G>A (p.Gly250Glu) rs972466774 0.00003
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) rs370716101 0.00003
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_182961.4(SYNE1):c.17682+1G>A rs1064796579 0.00003
NM_182961.4(SYNE1):c.24129+2T>C rs544985182 0.00003
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.15297+1G>C rs767630412 0.00003
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His) rs183758503 0.00003
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 0.00003
NR_003051.3(RMRP):n.-20_1dup rs1563907710 0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238 0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His) rs767928766 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.1801-1G>A rs886043752 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.2440-1G>A rs886044052 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.422+1G>A rs1198472093 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000231.3(SGCG):c.386-1G>A rs913248720 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp) rs866352637 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.1136T>C (p.Val379Ala) rs746203167 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207 0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr) rs374549180 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000320.3(QDPR):c.1A>T (p.Met1Leu) rs1034528249 0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000360.4(TH):c.1047+1G>C rs1340482195 0.00002
NM_000360.4(TH):c.1061C>T (p.Ala354Val) rs763039181 0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg) rs1264884607 0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000360.4(TH):c.644+1G>A rs1266265578 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000370.3(TTPA):c.205-2A>G rs758349851 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.121G>A (p.Gly41Arg) rs369291837 0.00002
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) rs72547573 0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000400.4(ERCC2):c.1666-2A>T rs199658345 0.00002
NM_000400.4(ERCC2):c.1758+1G>A rs760834687 0.00002
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val) rs550705310 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634 0.00002
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000553.6(WRN):c.210-1G>A rs758988621 0.00002
NM_000553.6(WRN):c.329dup (p.Tyr110Ter) rs766733097 0.00002
NM_000553.6(WRN):c.3460-7T>A rs1334937558 0.00002
NM_000553.6(WRN):c.3819+1G>A rs748618811 0.00002
NM_000553.6(WRN):c.3820-2A>G rs759685032 0.00002
NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile) rs781367354 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) rs375876694 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs) rs779969348 0.00002
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln) rs752689148 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys) rs542184779 0.00002
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln) rs72653768 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.386G>A (p.Gly129Glu) rs72653753 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile) rs63750494 0.00002
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001194998.2(CEP152):c.2148-17G>A rs751691427 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter) rs199903164 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923 0.00002
NM_001267550.2(TTN):c.16621+1G>T rs761965693 0.00002
NM_001267550.2(TTN):c.34855+1G>A rs377319699 0.00002
NM_001267550.2(TTN):c.35797+1G>T rs917175304 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys) rs772739103 0.00002
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002617.4(PEX10):c.113-1G>A rs867305222 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly) rs754080445 0.00002
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00002
NM_003801.4(GPAA1):c.643C>T (p.Arg215Ter) rs782498857 0.00002
NM_003896.4(ST3GAL5):c.282del (p.Met94fs) rs1383734078 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835 0.00002
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004086.3(COCH):c.271C>T (p.Arg91Ter) rs540895576 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004447.6(EPS8):c.205-8A>G rs180899529 0.00002
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter) rs747737475 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_005529.7(HSPG2):c.5273G>A (p.Arg1758Gln) rs2229483 0.00002
NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter) rs773621375 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006642.5(SDCCAG8):c.1745-2A>G rs1442457872 0.00002
NM_012205.3(HAAO):c.21del (p.Arg8fs) rs1227604776 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.248+5G>C rs587777816 0.00002
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_014363.6(SACS):c.1A>G (p.Met1Val) rs771943685 0.00002
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) rs766457071 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_014425.5(INVS):c.2068+2T>C rs777556837 0.00002
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs) rs751662952 0.00002
NM_015102.5(NPHP4):c.518-2A>G rs761142233 0.00002
NM_015102.5(NPHP4):c.992+2T>C rs746243637 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015378.4(VPS13D):c.941+3A>G rs372431023 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro) rs118204044 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_017433.5(MYO3A):c.2783C>G (p.Ser928Ter) rs778110879 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020458.4(TTC7A):c.2018-1G>C rs948534045 0.00002
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln) rs886923939 0.00002
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln) rs200140363 0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) rs770665588 0.00002
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu) rs746953590 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733 0.00002
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter) rs753535530 0.00002
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_025114.4(CEP290):c.181-1G>A rs281865190 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726 0.00002
NM_031475.3(ESPN):c.1464+1G>A rs752649606 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_032130.3(FAM186B):c.506-2A>G rs549662742 0.00002
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00002
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) rs553547069 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00002
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu) rs377581131 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.2570+1G>T rs1322038132 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153240.5(NPHP3):c.393+1G>C rs754332448 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.248+1G>A rs1482487617 0.00002
NM_153717.3(EVC):c.2562-2A>G rs1293098417 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_173477.5(USH1G):c.46C>G (p.Leu16Val) rs876657419 0.00002
NM_178170.3(NEK8):c.889+1G>T rs780247729 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro) rs750321557 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.14344-1G>T rs919142559 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs) rs1284826852 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys) rs777607869 0.00002
NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr) rs763783201 0.00002
NR_003051.3(RMRP):n.-22_-6dup rs727502777 0.00002
NR_003051.3(RMRP):n.-24_-12dup rs781730798 0.00002
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.120+1G>C rs779908220 0.00001
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter) rs748425041 0.00001
NM_000019.4(ACAT1):c.30del (p.Ser10fs) rs1565281236 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs) rs1565293957 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.826+5_826+9del rs1410743762 0.00001
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) rs1420321267 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter) rs1057516664 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.748-2A>T rs1412537279 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2075-1G>A rs1231598990 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg) rs148394770 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2663-1G>C rs1444037196 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 0.00001
NM_000057.4(BLM):c.3013_3019+4del rs765392662 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557 0.00001
NM_000070.3(CAPN3):c.2115+1G>A rs766917640 0.00001
NM_000070.3(CAPN3):c.2185-16A>G rs1339644598 0.00001
NM_000070.3(CAPN3):c.2185-2A>G rs886041335 0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544 0.00001
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557 0.00001
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg) rs779939785 0.00001
NM_000070.3(CAPN3):c.946-29del rs1595826640 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
NM_000082.4(ERCC8):c.1042-1G>A rs897535441 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.1122+1G>A rs1482664387 0.00001
NM_000082.4(ERCC8):c.173+1G>A rs1476095782 0.00001
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) rs1468231556 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000082.4(ERCC8):c.843+1G>T rs1305258765 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys) rs889073641 0.00001
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) rs375292685 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) rs754350357 0.00001
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp) rs753308829 0.00001
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642 0.00001
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) rs1475869303 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.145-2_145-1del rs1491486533 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu) rs1396602090 0.00001
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter) rs2071839316 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.2488_2488+2del rs1363058249 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000091.5(COL4A3):c.3751+1G>A rs781566652 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269 0.00001
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419 0.00001
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) rs377058706 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.559-2A>G rs766243664 0.00001
NM_000092.5(COL4A4):c.559-2A>T rs766243664 0.00001
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val) rs2061040474 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NM_000123.4(ERCC5):c.673-2A>G rs756420203 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316 0.00001
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577 0.00001
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) rs758737171 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp) rs931906767 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 0.00001
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu) rs138922415 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter) rs2083734400 0.00001
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val) rs147318988 0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs) rs1262459682 0.00001
NM_000231.3(SGCG):c.385+2T>C rs200206447 0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs) rs1484553312 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.33+1G>C rs1553940957 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter) rs773554421 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn) rs782313585 0.00001
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909 0.00001
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter) rs1461201353 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.285+1G>C rs782661097 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148 0.00001
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110 0.00001
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.4569-1G>A rs775792432 0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter) rs1407313220 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718 0.00001
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286 0.00001
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037 0.00001
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250 0.00001
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) rs747095250 0.00001
NM_000260.4(MYO7A):c.849+5G>A rs1060499716 0.00001
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala) rs1444308532 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1948-1G>A rs1555634508 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys) rs548191894 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3309dup (p.Val1104fs) rs1057517194 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val) rs780175800 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000271.5(NPC1):c.631+2T>C rs1555638833 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 0.00001
NM_000271.5(NPC1):c.956-1G>A rs756853895 0.00001
NM_000271.5(NPC1):c.956-2A>G rs1473909084 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu) rs62516098 0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) rs1874694173 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) rs199475658 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.1200G>T (p.Arg400Ser) rs1874549626 0.00001
NM_000277.3(PAH):c.1216A>G (p.Ile406Val) rs749613899 0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met) rs767075719 0.00001
NM_000277.3(PAH):c.1316-2A>G rs760830761 0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594 0.00001
NM_000277.3(PAH):c.140C>T (p.Ala47Val) rs118203925 0.00001
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677 0.00001
NM_000277.3(PAH):c.169-13T>G rs62507341 0.00001
NM_000277.3(PAH):c.183C>G (p.Asn61Lys) rs199475634 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.223G>A (p.Asp75Asn) rs767453024 0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) rs62509017 0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236 0.00001
NM_000277.3(PAH):c.356C>T (p.Pro119Leu) rs374999809 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 0.00001
NM_000277.3(PAH):c.435C>A (p.Asp145Glu) rs1375045653 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000277.3(PAH):c.493G>A (p.Ala165Thr) rs199475626 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671 0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) rs199475617 0.00001
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.632C>A (p.Pro211Gln) rs281865443 0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly) rs62507319 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val) rs62507283 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155 0.00001
NM_000277.3(PAH):c.835C>G (p.Pro279Ala) rs1555204441 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.859C>A (p.Leu287Met) rs781096854 0.00001
NM_000277.3(PAH):c.859C>G (p.Leu287Val) rs781096854 0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu) rs1200240274 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000277.3(PAH):c.922C>T (p.Leu308Phe) rs62642095 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618 0.00001
NM_000277.3(PAH):c.970-1G>A rs202183605 0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) rs199475616 0.00001
NM_000277.3(PAH):c.998T>C (p.Leu333Pro) rs1344368175 0.00001
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) rs104894177 0.00001
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys) rs397518416 0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter) rs1056238409 0.00001
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1234-1G>T rs1554127533 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.2806+1G>A rs751900826 0.00001
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs) rs1561830903 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675 0.00001
NM_000317.3(PTS):c.104A>G (p.Glu35Gly) rs1328320990 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.243+2T>C rs759363496 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000317.3(PTS):c.315-1G>C rs776543880 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser) rs141163668 0.00001
NM_000317.3(PTS):c.379C>G (p.Leu127Val) rs1859971515 0.00001
NM_000317.3(PTS):c.46C>T (p.Arg16Cys) rs104894274 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter) rs1224562361 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu) rs1407920390 0.00001
NM_000320.3(QDPR):c.546-2A>G rs1577184852 0.00001
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp) rs104893863 0.00001
NM_000320.3(QDPR):c.79G>T (p.Val27Leu) rs762772317 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.11+2T>G rs778768116 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) rs1064795255 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) rs1571170561 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) rs1171545533 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000337.6(SGCD):c.4-1G>A rs1554094927 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762 0.00001
NM_000360.4(TH):c.1300T>C (p.Ser434Pro) rs1367289835 0.00001
NM_000360.4(TH):c.1399G>T (p.Asp467Tyr) rs200751977 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1101C>A (p.His367Gln) rs139091458 0.00001
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr) rs61754386 0.00001
NM_000372.5(TYR):c.116G>A (p.Trp39Ter) rs775683960 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His) rs768290318 0.00001
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000400.4(ERCC2):c.1308-2A>G rs766369300 0.00001
NM_000400.4(ERCC2):c.1489C>T (p.Arg497Cys) rs199738290 0.00001
NM_000400.4(ERCC2):c.1759-2A>G rs774936846 0.00001
NM_000400.4(ERCC2):c.1973G>A (p.Arg658His) rs762141272 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) rs760820378 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000414.4(HSD17B4):c.1333+1G>C rs1369305726 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1574-1G>A rs755412738 0.00001
NM_000414.4(HSD17B4):c.280+2T>C rs770772281 0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter) rs752094219 0.00001
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter) rs1383756739 0.00001
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter) rs762342110 0.00001
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) rs776104105 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=) rs1791494228 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1342-2A>C rs1413121429 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter) rs778901860 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484 0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2090-1G>A rs1455597424 0.00001
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs) rs1374832271 0.00001
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.2320-2A>G rs1275029034 0.00001
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter) rs1408895107 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2583+1G>T rs771586413 0.00001
NM_000466.3(PEX1):c.2719-1G>A rs1791673946 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro) rs1484321655 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter) rs1799061745 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg) rs397508214 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro) rs1791967656 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln) rs397508342 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.325T>C (p.Tyr109His) rs397508522 0.00001
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533 0.00001
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr) rs755968404 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter) rs397508643 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4252del (p.Glu1418fs) rs1554397750 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560 0.00001
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr) rs759950370 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) rs779528546 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827 0.00001
NM_000543.5(SMPD1):c.319-1G>A rs1352986086 0.00001
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val) rs1047531932 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000553.6(WRN):c.1351-1G>A rs1170732591 0.00001
NM_000553.6(WRN):c.1431+2T>C rs1455462438 0.00001
NM_000553.6(WRN):c.1652+1G>A rs777096501 0.00001
NM_000553.6(WRN):c.1829+5G>A rs751015040 0.00001
NM_000553.6(WRN):c.1899-2A>T rs1175230246 0.00001
NM_000553.6(WRN):c.209+5G>A rs754208761 0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter) rs371720457 0.00001
NM_000553.6(WRN):c.3309+1G>A rs1281075870 0.00001
NM_000553.6(WRN):c.3384-1G>A rs776963381 0.00001
NM_000553.6(WRN):c.3460-1G>A rs1802899166 0.00001
NM_000553.6(WRN):c.355+1G>T rs775196937 0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter) rs762379051 0.00001
NM_000553.6(WRN):c.3983-1G>T rs752465293 0.00001
NM_000553.6(WRN):c.504+1G>T rs1163988347 0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) rs1198210848 0.00001
NM_000553.6(WRN):c.97-1G>A rs780988648 0.00001
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_000784.4(CYP27A1):c.1017+1G>A rs1943742261 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) rs775061512 0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter) rs758210528 0.00001
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr) rs146312522 0.00001
NM_001023570.4(IQCB1):c.393+1G>C rs1226321871 0.00001
NM_001023570.4(IQCB1):c.588-2A>G rs1250919247 0.00001
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) rs387907088 0.00001
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter) rs375857763 0.00001
NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu) rs762367899 0.00001
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter) rs762067626 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter) rs1163046936 0.00001
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) rs776800006 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_001044385.3(TMEM237):c.136+1G>T rs778823927 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001048174.2(MUTYH):c.-6-2A>G rs1383826978 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.115+1G>A rs1330675110 0.00001
NM_001048174.2(MUTYH):c.1434+1G>C rs876659420 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) rs370124822 0.00001
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro) rs761763725 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) rs768386527 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln) rs533899702 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu) rs768553551 0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter) rs1064796630 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.699+68T>C rs759254028 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) rs121908574 0.00001
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608 0.00001
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) rs777735526 0.00001
NM_001079866.2(BCS1L):c.463C>T (p.Arg155Ter) rs774688562 0.00001
NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter) rs762980642 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys) rs1197613485 0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) rs1280810181 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter) rs769983282 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001083961.2(WDR62):c.1194G>A (p.Trp398Ter) rs769137869 0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser) rs587784548 0.00001
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr) rs587784558 0.00001
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His) rs1282788711 0.00001
NM_001127649.3(PEX26):c.667+2T>C rs267608191 0.00001
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg) rs1744257909 0.00001
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) rs1242667371 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.325_329+7del rs1683656584 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135 0.00001
NM_001128425.2(MUTYH):c.36+1G>A rs1553136984 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.2217-2A>G rs747289205 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter) rs769721856 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln) rs779987458 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs1342179740 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5784+1G>A rs909564120 0.00001
NM_001130987.2(DYSF):c.5884+1G>A rs756689063 0.00001
NM_001130987.2(DYSF):c.5885-1G>C rs771257070 0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter) rs1553420848 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys) rs367588704 0.00001
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter) rs1194329020 0.00001
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser) rs1332109041 0.00001
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp) rs775853778 0.00001
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His) rs72653769 0.00001
NM_001171.6(ABCC6):c.2511C>A (p.Tyr837Ter) rs72650702 0.00001
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter) rs1481200467 0.00001
NM_001171.6(ABCC6):c.333G>A (p.Trp111Ter) rs1002088882 0.00001
NM_001171.6(ABCC6):c.3364del (p.Ser1122fs) rs72664232 0.00001
NM_001171.6(ABCC6):c.3397G>T (p.Gly1133Cys) rs63749807 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3709C>T (p.Gln1237Ter) rs72653746 0.00001
NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter) rs72653748 0.00001
NM_001171.6(ABCC6):c.3790C>T (p.Gln1264Ter) rs1311228469 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly) rs780887287 0.00001
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr) rs63750608 0.00001
NM_001171.6(ABCC6):c.4403+1G>T rs1006994885 0.00001
NM_001171.6(ABCC6):c.595C>T (p.Gln199Ter) rs1474063386 0.00001
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter) rs72650697 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) rs1310011888 0.00001
NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter) rs995036419 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001195263.2(PDZD7):c.928+1G>A rs778565403 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249 0.00001
NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe) rs1333651774 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met) rs768140716 0.00001
NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val) rs1306292205 0.00001
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs) rs397517626 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter) rs769023413 0.00001
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter) rs967542291 0.00001
NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter) rs995029896 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430 0.00001
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter) rs1202115268 0.00001
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) rs991187915 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs) rs1394131775 0.00001
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter) rs1285334952 0.00001
NM_001267550.2(TTN):c.106532-2A>C rs753610150 0.00001
NM_001267550.2(TTN):c.107219dup (p.Pro35741fs) rs1427595954 0.00001
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter) rs1477669354 0.00001
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter) rs770579313 0.00001
NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys) rs2078691261 0.00001
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter) rs764687326 0.00001
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter) rs1340940049 0.00001
NM_001267550.2(TTN):c.2371-1G>A rs755365744 0.00001
NM_001267550.2(TTN):c.28739C>A (p.Ser9580Ter) rs375212459 0.00001
NM_001267550.2(TTN):c.30223+1G>A rs556408709 0.00001
NM_001267550.2(TTN):c.32011+1G>T rs1471534246 0.00001
NM_001267550.2(TTN):c.32392+1G>A rs1424314036 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.32555-1G>A rs932486601 0.00001
NM_001267550.2(TTN):c.33910+1G>T rs893407745 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.34837G>T (p.Glu11613Ter) rs766945794 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.36448+2T>C rs1426178024 0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669 0.00001
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter) rs794729258 0.00001
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319 0.00001
NM_001267550.2(TTN):c.48160+1G>C rs779498825 0.00001
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter) rs869312048 0.00001
NM_001267550.2(TTN):c.49346-2A>T rs794729263 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 0.00001
NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs) rs1195974666 0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242 0.00001
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.55300C>T (p.Gln18434Ter) rs1284529298 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.56051-1G>A rs1385817640 0.00001
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer) rs2052216955 0.00001
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter) rs1192054216 0.00001
NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter) rs1418030810 0.00001
NM_001267550.2(TTN):c.57849del (p.Val19284fs) rs776385412 0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001267550.2(TTN):c.62424del (p.Asp20808fs) rs1250302805 0.00001
NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter) rs1341948399 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.66160+2T>C rs753146898 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.67636+2T>C rs1575872984 0.00001
NM_001267550.2(TTN):c.68224+2T>C rs1321711553 0.00001
NM_001267550.2(TTN):c.68527+1G>C rs766984722 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.69420del (p.Gly23141fs) rs1330960948 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter) rs1373472758 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter) rs772842119 0.00001
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525 0.00001
NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter) rs752378132 0.00001
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300 0.00001
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter) rs1416323929 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile) rs1354476372 0.00001
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001283009.2(RTEL1):c.1037+1G>T rs895722334 0.00001
NM_001283009.2(RTEL1):c.1266+2T>G rs1444392809 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) rs768188490 0.00001
NM_001283009.2(RTEL1):c.2142-2A>G rs2090696292 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp) rs2038701489 0.00001
NM_001287.6(CLCN7):c.739-18G>A rs371893553 0.00001
NM_001292063.2(OTOG):c.3682+1G>A rs554063575 0.00001
NM_001329943.3(KIAA0586):c.1885-2A>G rs1431898844 0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738 0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G rs763815640 0.00001
NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter) rs753579827 0.00001
NM_001353108.3(CEP63):c.182_185dup (p.Lys62delinsAsnTer) rs746387482 0.00001
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg) rs534494159 0.00001
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter) rs760186083 0.00001
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146 0.00001
NM_001374623.1(PNPLA1):c.350C>T (p.Thr117Met) rs371307766 0.00001
NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu) rs766215523 0.00001
NM_001378454.1(ALMS1):c.10078+1G>T rs765075310 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.12299-2A>G rs759788656 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.7675-2A>G rs748477695 0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.3594+5G>A rs863225181 0.00001
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) rs780190318 0.00001
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile) rs759221881 0.00001
NM_001382391.1(CSPP1):c.1497-2A>C rs766633448 0.00001
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3807-2A>G rs1328440878 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 0.00001
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) rs1598914701 0.00001
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter) rs960741408 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5085+1G>T rs1418245706 0.00001
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) rs1442825433 0.00001
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter) rs1554117456 0.00001
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter) rs1171996547 0.00001
NM_001386140.1(MTTP):c.1868-2A>G rs760547155 0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) rs1725952378 0.00001
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter) rs760855321 0.00001
NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter) rs1298804148 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln) rs368143665 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn) rs782484337 0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) rs1572924733 0.00001
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
NM_002226.5(JAG2):c.493C>T (p.Arg165Ter) rs751347948 0.00001
NM_002230.4(JUP):c.208+1G>A rs373761090 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.3109+1G>A rs888830612 0.00001
NM_002292.4(LAMB2):c.3798-1G>C rs1131690793 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4573+1G>A rs1387723456 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) rs765695793 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) rs1398692057 0.00001
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) rs779935967 0.00001
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.2070+2del rs1057517075 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_002617.4(PEX10):c.776+2T>C rs1335685844 0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_002857.4(PEX19):c.346+1G>A rs75072667 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_002906.4(RDX):c.1135C>T (p.Arg379Ter) rs772146113 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter) rs141396971 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) rs778851652 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) rs782262926 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.2059-1G>A rs386833849 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004525.3(LRP2):c.188-2A>G rs760114690 0.00001
NM_004525.3(LRP2):c.2639+1G>A rs746752313 0.00001
NM_004525.3(LRP2):c.3667+1G>A rs752197557 0.00001
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln) rs753667280 0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) rs770931044 0.00001
NM_004560.4(ROR2):c.175+1G>A rs753069829 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181 0.00001
NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys) rs756479236 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) rs527236079 0.00001
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532 0.00001
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp) rs1064794320 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) rs769471341 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005219.5(DIAPH1):c.145-1G>A rs763349669 0.00001
NM_005236.3(ERCC4):c.1102+1G>T rs1314323456 0.00001
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys) rs1455568421 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_005709.4(USH1C):c.1211-3_1232del rs1246699436 0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) rs1406678014 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 0.00001
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1021-1G>T rs1590807544 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter) rs1590817956 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter) rs1003722483 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_006397.3(RNASEH2A):c.323+1G>T rs1388246689 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476 0.00001
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter) rs1287727763 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter) rs367572249 0.00001
NM_006642.5(SDCCAG8):c.307-1G>A rs1460888769 0.00001
NM_006642.5(SDCCAG8):c.546+1G>A rs756907665 0.00001
NM_006642.5(SDCCAG8):c.675+1G>A rs1022080658 0.00001
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter) rs1251881194 0.00001
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile) rs1212676320 0.00001
NM_006846.4(SPINK5):c.2441+1G>A rs1561701382 0.00001
NM_006846.4(SPINK5):c.2666+1G>A rs1754362343 0.00001
NM_006846.4(SPINK5):c.2740-1G>C rs1057518067 0.00001
NM_006846.4(SPINK5):c.81+5G>A rs771730802 0.00001
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943 0.00001
NM_006892.4(DNMT3B):c.1957G>A (p.Asp653Asn) rs1438362757 0.00001
NM_006892.4(DNMT3B):c.2281G>C (p.Glu761Gln) rs767814649 0.00001
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) rs1368779496 0.00001
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946 0.00001
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) rs1180294322 0.00001
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe) rs767581950 0.00001
NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp) rs1207850001 0.00001
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys) rs754069818 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_013322.3(SNX10):c.151C>T (p.Arg51Ter) rs1353879401 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1253+1G>A rs1475161693 0.00001
NM_013382.7(POMT2):c.1485-2_1485-1del rs1185491348 0.00001
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly) rs760916142 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter) rs1027429746 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5122del (p.Ala1708fs) rs1485885260 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.796+5G>A rs1272619479 0.00001
NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp) rs1295466248 0.00001
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) rs759300846 0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106 0.00001
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter) rs774318019 0.00001
NM_014906.5(PPM1E):c.*1892T>A rs1567903706 0.00001
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.1724+1G>A rs1489883516 0.00001
NM_014956.5(CEP164):c.2066+1G>A rs1279037770 0.00001
NM_014956.5(CEP164):c.2493+1G>A rs778819060 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_014956.5(CEP164):c.2760+1G>T rs1269878493 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) rs1169623576 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg) rs183776349 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter) rs1430741326 0.00001
NM_015102.5(NPHP4):c.1504-1G>A rs1204924769 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001 0.00001
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) rs386834004 0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008 0.00001
NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter) rs758368974 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015474.4(SAMHD1):c.509+1G>A rs1192315307 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016098.4(MPC1):c.290G>A (p.Arg97Gln) rs1779135449 0.00001
NM_016122.3(CEP83):c.550-1G>A rs1555237944 0.00001
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter) rs1164484724 0.00001
NM_016239.4(MYO15A):c.10491+2T>C rs1390498839 0.00001
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) rs773648511 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn) rs371717411 0.00001
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His) rs773476384 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016529.6(ATP8A2):c.1058-2A>G rs1304832284 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
NM_016529.6(ATP8A2):c.3272+1G>A rs779337270 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs) rs746055369 0.00001
NM_017721.5(CC2D1A):c.511_513+1del rs777057767 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1110+1G>A rs1657940058 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1605-1G>C rs770219373 0.00001
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567 0.00001
NM_017739.4(POMGNT1):c.236-1G>T rs1057516477 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter) rs760971749 0.00001
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe) rs780944919 0.00001
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) rs140696201 0.00001
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) rs759468416 0.00001
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2T>C (p.Met1Thr) rs761447719 0.00001
NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter) rs1657341426 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.9444+1G>T rs1656796807 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018249.6(CDK5RAP2):c.4114C>T (p.Arg1372Ter) rs746967357 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018249.6(CDK5RAP2):c.4963+1G>A rs760836130 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter) rs2077134911 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018451.5(CENPJ):c.3367-1G>A rs763715733 0.00001
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln) rs1477524771 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_018718.3(CEP41):c.278-1G>A rs1796956272 0.00001
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379 0.00001
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter) rs104894001 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.313del (p.Ala105fs) rs386834141 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_018965.4(TREM2):c.482+2T>C rs386834144 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_020631.6(PLEKHG5):c.1132-2A>C rs1557742277 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A rs145809731 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter) rs1384393001 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020661.4(AICDA):c.544-2A>G rs772388034 0.00001
NM_020751.3(COG6):c.1585-2A>G rs200812708 0.00001
NM_020921.4(NIN):c.6079-1686G>A rs1310109020 0.00001
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 0.00001
NM_020964.3(EPG5):c.1678-1G>A rs755928939 0.00001
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp) rs1311967606 0.00001
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser) rs754081544 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) rs764158202 0.00001
NM_021942.6(TRAPPC11):c.3189+1G>A rs1170374164 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu) rs764625823 0.00001
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys) rs780867515 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.1845+1G>A rs2076970587 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs) rs751910922 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.4206+1G>A rs1204500829 0.00001
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn) rs772953914 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser) rs780917129 0.00001
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp) rs936479651 0.00001
NM_022124.6(CDH23):c.8146del (p.Asp2716fs) rs1564804195 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022336.4(EDAR):c.175-2A>G rs757233170 0.00001
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) rs755654853 0.00001
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387 0.00001
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102 0.00001
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677 0.00001
NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter) rs1557770517 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_024417.5(FDXR):c.472G>A (p.Val158Met) rs1441084539 0.00001
NM_024570.4(RNASEH2B):c.437-1G>A rs777313709 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala) rs1441937959 0.00001
NM_024596.5(MCPH1):c.2214+2T>C rs575037500 0.00001
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_024649.5(BBS1):c.518+1G>A rs771517209 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024649.5(BBS1):c.723+1G>C rs1295318869 0.00001
NM_024649.5(BBS1):c.830+2T>C rs1856209722 0.00001
NM_024649.5(BBS1):c.952-1G>A rs1057516661 0.00001
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_024685.4(BBS10):c.198-1G>C rs1555202740 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803 0.00001
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_024989.4(PGAP1):c.2286+1G>A rs1406991265 0.00001
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter) rs878853009 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) rs777438557 0.00001
NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter) rs377137481 0.00001
NM_025077.4(TOE1):c.-37T>A rs759654665 0.00001
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1712-2A>T rs764551108 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter) rs752144368 0.00001
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter) rs1267970567 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025114.4(CEP290):c.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter) rs746305733 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter) rs1375836634 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.1982+2T>C rs780847651 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.3262-2A>G rs753291151 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.890+1G>T rs1338996032 0.00001
NM_025216.3(WNT10A):c.1028C>T (p.Pro343Leu) rs1944675271 0.00001
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) rs764658964 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_031475.3(ESPN):c.2524C>T (p.Arg842Ter) rs1644131579 0.00001
NM_031885.5(BBS2):c.1080+2T>C rs771554923 0.00001
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.117+1G>A rs1964866367 0.00001
NM_031885.5(BBS2):c.1398-2A>G rs767609303 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.612+1G>T rs1964531402 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu) rs765574676 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_032119.4(ADGRV1):c.14972+1G>T rs780011571 0.00001
NM_032119.4(ADGRV1):c.9749-2del rs1751549898 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala) rs372607453 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_032237.5(POMK):c.907C>T (p.Arg303Ter) rs528307346 0.00001
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs) rs2065896039 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro) rs372355939 0.00001
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter) rs1185183557 0.00001
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter) rs777777359 0.00001
NM_138691.3(TMC1):c.564C>A (p.Tyr188Ter) rs1178631956 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala) rs758858303 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.11398+2T>C rs754038777 0.00001
NM_138694.4(PKHD1):c.11399-1G>A rs1183281205 0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701 0.00001
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter) rs1295732689 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.1694-2A>G rs1807619777 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2821+2T>C rs1394431107 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_138694.4(PKHD1):c.3229-2del rs1057516283 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met) rs1370869109 0.00001
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) rs375437755 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) rs794727680 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly) rs1471306684 0.00001
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) rs398124496 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.8554+1G>A rs1790925351 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg) rs373241537 0.00001
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys) rs957419550 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile) rs1263208576 0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577 0.00001
NM_138694.4(PKHD1):c.977-1G>A rs1808864196 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_138694.4(PKHD1):c.9907del (p.Ser3303fs) rs1785247939 0.00001
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro) rs1565312540 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) rs143481438 0.00001
NM_144508.5(KNL1):c.1521A>G (p.Gln507=) rs979186313 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) rs200656442 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3361-2del rs757914735 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) rs28942096 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_152384.3(BBS5):c.817-1G>T rs1466289570 0.00001
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter) rs148275050 0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter) rs1284876635 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328 0.00001
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe) rs1939561839 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2311-1G>C rs1363032805 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153240.5(NPHP3):c.2694-2A>T rs1395411307 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766 0.00001
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter) rs1278026061 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2281-2A>G rs921755529 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter) rs766327614 0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703 0.00001
NM_153676.4(USH1C):c.877-1G>A rs771279169 0.00001
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_153700.2(STRC):c.4510del (p.Glu1504fs) rs759816064 0.00001
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635 0.00001
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) rs749435317 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153717.3(EVC):c.1564-2A>G rs1553886849 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.702+1G>A rs1553867138 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.1175C>T (p.Thr392Met) rs201183584 0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) rs758356262 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_173551.5(ANKS6):c.1973-1G>A rs1458080834 0.00001
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) rs1380661508 0.00001
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter) rs1470030897 0.00001
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112 0.00001
NM_176824.3(BBS7):c.198T>G (p.Ile66Met) rs367765050 0.00001
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser) rs1207105923 0.00001
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter) rs751922029 0.00001
NM_178170.3(NEK8):c.828-1G>C rs749866369 0.00001
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys) rs587777643 0.00001
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) rs762876554 0.00001
NM_182961.4(SYNE1):c.12528+1G>A rs1012514808 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter) rs1193193335 0.00001
NM_182961.4(SYNE1):c.6723+1G>C rs779302145 0.00001
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter) rs780991031 0.00001
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626 0.00001
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NM_198525.3(KIF7):c.1561-1G>A rs763238645 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 0.00001
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter) rs771875570 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10586-2A>G rs370327669 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464 0.00001
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly) rs1341032857 0.00001
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13811+1G>A rs1177257719 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.14791+5G>T rs1235430504 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs) rs1295968274 0.00001
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val) rs1415484067 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.6050-1G>A rs1035024403 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.7300+1G>C rs1343780391 0.00001
NM_206933.4(USH2A):c.7301-1G>A rs1438496892 0.00001
NM_206933.4(USH2A):c.7594+2del rs762608746 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 0.00001
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) rs748465849 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr) rs983763783 0.00001
NM_206933.4(USH2A):c.9959-1G>A rs970237364 0.00001
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) rs767978562 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NM_213599.3(ANO5):c.1120-1G>A rs561719071 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp) rs529961953 0.00001
NM_213599.3(ANO5):c.2030-2A>T rs1187569251 0.00001
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln) rs926233739 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
NR_003051.3(RMRP):n.-13_-7dup7 rs1554651462 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-19_-12dup8 rs1554651505 0.00001
NR_003051.3(RMRP):n.-20_-2dup rs1554651404 0.00001
NR_003051.3(RMRP):n.-20_-8dup rs1823640657 0.00001
NR_003051.3(RMRP):n.-21_-2dup rs1554651403 0.00001
NR_003051.3(RMRP):n.-22_-14dup rs1563908167 0.00001
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT rs1563908212 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-23_-10dup rs1554651489 0.00001
NR_003051.3(RMRP):n.-23_-5dup19 rs1554651428 0.00001
NR_003051.3(RMRP):n.-23_-6dup rs1554651453 0.00001
NR_003051.3(RMRP):n.-25_-8dup18 rs1554651473 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
GRCh37/hg19 12p12.3(chr12:15800060-15865927)
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
GRCh37/hg19 2q31.1(chr2:170134234-170137049)
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
GRCh38/hg38 16q13(chr16:56496014-56504285)
GRCh38/hg38 17p13.1(chr17:8171228-8185326)x1
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
Multiple alleles
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
NC_000001.10:g.(?_12022996)_(12026348_?)del
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000001.10:g.(?_2337205)_(2338414_?)del
NC_000001.10:g.(?_236631511)_(236631596_?)dup
NC_000001.10:g.(?_243652316)_(243652442_?)dup
NC_000001.10:g.(?_45794978)_(45795123_?)del
NC_000001.10:g.(?_45796178)_(45796257_?)del
NC_000001.10:g.(?_45800053)_(45800193_?)dup
NC_000001.10:g.(?_45800057)_(45800189_?)dup
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NC_000001.10:g.(?_5964816)_(6017448_?)del
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
NC_000001.11:g.(?_154274930)_(154275721_?)del
NC_000001.11:g.(?_216108034)_(216108100_?)del
NC_000001.11:g.(?_216462679)_(216462739_?)del
NC_000001.11:g.(?_45329300)_(45330563_?)del
NC_000001.11:g.113112478GA[1] rs1570764426
NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del
NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
NC_000002.11:g.(73786270_73799388)_(73800552_73826527)del
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
NC_000002.11:g.(?_166767817)_(166806254_?)dup
NC_000002.11:g.(?_179296824)_(179518254_?)del
NC_000002.11:g.(?_179405446)_(179408110_?)del
NC_000002.11:g.(?_179407899)_(179439276_?)del
NC_000002.11:g.(?_179419384)_(179419787_?)dup
NC_000002.11:g.(?_179419793)_(179515001_?)del
NC_000002.11:g.(?_179425803)_(179544953_?)del
NC_000002.11:g.(?_179425856)_(179596206_?)del
NC_000002.11:g.(?_179426336)_(179569921_?)del
NC_000002.11:g.(?_179443318)_(179669369_?)del
NC_000002.11:g.(?_219679083)_(219679753_?)del
NC_000002.11:g.(?_219679093)_(219679763_?)del
NC_000002.11:g.(?_63380029)_(63380729_?)dup
NC_000002.11:g.(?_71680752)_(71681217_71708012)del
NC_000002.11:g.(?_73651548)_(73653691_?)dup
NC_000002.11:g.(?_73682279)_(73682432_?)dup
NC_000002.11:g.(?_73716741)_(73718645_?)dup
NC_000002.11:g.(?_73716751)_(73762086_?)dup
NC_000002.11:g.(?_73777384)_(73800561_?)dup
NC_000002.11:g.(?_73799379)_(73800561_?)dup
NC_000002.12:g.(?_178528254)_(178544135_?)del
NC_000003.11:g.(132438675_132440806)_132441126del
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
NC_000003.11:g.(?_121491404)_(121500721_?)dup
NC_000003.11:g.93714775_(93722753_93754174)del
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000004.11:g.(17506099_17510893)_(17513858_?)del
NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
NC_000004.11:g.(?_52890123)_(52890346_?)del
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NC_000005.10:g.(42700003_42711206)_(42719424_?)del
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NC_000005.10:g.(?_119514971)_(119542004_?)del
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
NC_000005.9:g.(60200701_60214091)_(60240906_?)del
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
NC_000005.9:g.(?_156074454)_(156074566_?)dup
NC_000005.9:g.(?_60169658)_(60183348_60186715)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.11:g.(?_137191125)_(137199715_?)del
NC_000006.11:g.(?_152466612)_(152643033_?)dup
NC_000006.11:g.(?_152652198)_(152658654_?)del
NC_000006.11:g.(?_152716631)_(152765733_?)dup
NC_000006.11:g.(?_42931601)_(42937735_?)del
NC_000006.11:g.(?_51483869)_(51524777_?)del
NC_000006.11:g.(?_51491785)_(51609350_?)del
NC_000006.11:g.(?_51491828)_(51492507_?)del
NC_000006.11:g.(?_51497353)_(51524777_?)del
NC_000006.11:g.(?_51609173)_(51611697_?)del
NC_000006.11:g.(?_51747238)_(51777384_?)dup
NC_000006.11:g.(?_51750655)_(51768850_?)dup
NC_000006.11:g.(?_51768385)_(51799130_?)dup
NC_000006.11:g.(?_51798898)_(51824834_?)dup
NC_000006.11:g.(?_51875087)_(51882447_?)dup
NC_000006.11:g.(?_51917864)_(51924850_?)dup
NC_000006.12:g.(?_51619071)_(51791383_?)del
NC_000006.12:g.(?_51855873)_(51912596_?)dup
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
NC_000007.13:g.(?_117120016)_(117120202_117144306)del
NC_000007.13:g.(?_117144294)_(117254777_?)dup
NC_000007.13:g.(?_117170943)_(117171255_?)del
NC_000007.13:g.(?_117170943)_(117243859_?)dup
NC_000007.13:g.(?_117199476)_(117199720_?)del
NC_000007.13:g.(?_117234961)_(117235122_?)del
NC_000007.13:g.(?_117267556)_(117267869_?)del
NC_000007.13:g.(?_117282468)_(117288374_?)del
NC_000007.13:g.(?_16415707)_(16415876_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)dup
NC_000007.13:g.(?_33192293)_(33192483_?)dup
NC_000007.13:g.(?_33195240)_(33195324_?)dup
NC_000007.13:g.(?_33312604)_(33313588_?)dup
NC_000007.14:g.(?_117509024)_(117509152_?)dup
NC_000007.14:g.(?_117530889)_(117540356_?)del
NC_000007.14:g.(?_117548631)_(117548835_?)del
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NC_000008.10:g.(31007972_31012139)_(31031278_?)del
NC_000008.10:g.(?_145008466)_(145012880_?)dup
NC_000008.10:g.(?_145008783)_(145018851_?)dup
NC_000008.10:g.(?_30941261)_(30947513_?)del
NC_000008.10:g.(?_30941261)_(30947629_?)del
NC_000008.10:g.(?_30966107)_(30974054_?)del
NC_000008.10:g.(?_30977883)_(31003833_?)del
NC_000008.10:g.(?_31007847)_(31024756_?)del
NC_000008.10:g.(?_68018120)_(68071392_?)dup
NC_000008.10:g.(?_68024187)_(68044335_?)dup
NC_000008.10:g.(?_75272366)_(75272551_?)del
NC_000008.10:g.(?_90947810)_(90960130_?)del
NC_000008.10:g.(?_90955471)_(90958533_?)del
NC_000008.10:g.(?_90955471)_(90983528_?)dup
NC_000008.10:g.(?_90965634)_(90971364_?)del
NC_000008.10:g.(?_90970943)_(90971092_?)dup
NC_000008.10:g.(?_90992952)_(90993761_?)del
NC_000008.11:g.(?_31111605)_(31132516_?)del
NC_000008.11:g.(?_31150335)_(31167236_?)del
NC_000008.11:g.(?_89935576)_(89937081_?)del
NC_000008.11:g.(?_89935582)_(89937085_?)del
NC_000008.11:g.(?_89946130)_(89946305_?)del
NC_000008.11:g.(?_89978210)_(89980903_?)del
NC_000008.11:g.31059257_31099267del
NC_000009.11:g.(134388719_134390812)_(134399194_?)del
NC_000009.11:g.(?_134389752)_(134390863_?)del
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
NC_000010.10:g.(73454017_73455174)_73468962del
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
NC_000010.11:g.(?_71645831)_(71646617_?)del
NC_000010.11:g.53995649_54022892del
NC_000011.10:g.(?_2166470)_(2168675_?)del
NC_000011.10:g.(?_22218246)_(22221210_?)del
NC_000011.10:g.(?_22272764)_(22276219_?)del
NC_000011.9:g.(22272558_22276916)_(22284590_22291857)del
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000011.9:g.(?_117253375)_(117257939_?)del
NC_000011.9:g.(?_22257699)_(22261240_?)dup
NC_000011.9:g.(?_22297630)_(22301321_?)del
NC_000011.9:g.(?_66281867)_(66288857_?)dup
NC_000011.9:g.(?_66290917)_(66294288_?)dup
NC_000011.9:g.(?_68682281)_(68682501_?)del
NC_000011.9:g.(?_88040961)_(88042398_?)del
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
NC_000012.11:g.(?_103260354)_(103260461_?)dup
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
NC_000012.11:g.(?_88447419)_(88448200_?)dup
NC_000012.11:g.(?_88465051)_(88508979_?)dup
NC_000013.10:g.(?_23869544)_(23869636_?)dup
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000015.10:g.(?_42409283)_(42410015_?)del
NC_000015.10:g.(?_43906612)_(43906674_)?del
NC_000015.10:g.(?_90794157)_(90798347_?)del
NC_000015.10:g.(?_90803511)_(90804369_?)del
NC_000015.10:g.(?_90809127)_(90815289_?)del
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
NC_000015.9:g.(?_42614560)_(42676697_?)del
NC_000015.9:g.(?_42695919)_(42695985_?)dup
NC_000015.9:g.(?_73004565)_(73009211_?)del
NC_000015.9:g.(?_91326042)_(91328321_?)dup
NC_000015.9:g.(?_91326042)_(91334084_?)dup
NC_000015.9:g.(?_91326042)_(91358509_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)dup
NC_000015.9:g.(?_91341448)_(91344889_?)del
NC_000015.9:g.(?_91346741)_(91358509_?)del
NC_000015.9:g.(?_91346741)_(91358519_?)del
NC_000015.9:g.(?_91352357)_(91358509_?)del
NC_000016.10:g.(?_78278583)_(78432772_?)del
NC_000016.10:g.(?_78432468)_(78432772_?)del
NC_000016.10:g.21730837_21730930del rs2141723087
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NC_000016.9:g.(?_78148926)_(78166880_?)del
NC_000016.9:g.(?_78458747)_(78466669_?)dup
NC_000017.10:g.57075470_57235248del159779
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
NC_000020.10:g.(?_35532550)_(35563602_?)del
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.10:g.(?_35559143)_(35563612_?)dup
NC_000020.10:g.(?_35563422)_(35563602_?)dup
NC_000020.10:g.(?_35569432)_(35569524_?)dup
NC_000020.10:g.(?_62292641)_(62327221_?)del
NC_000020.10:g.(?_62298812)_(62298916_?)dup
NC_000020.10:g.(?_62309488)_(62312082_?)dup
NC_000020.11:g.(?_36927172)_(36927262_?)dup
NC_000020.11:g.(?_36930750)_(36930885_?)dup
NM_000019.4(ACAT1):c.1005+1G>A rs2134780623
NM_000019.4(ACAT1):c.1005+2T>G
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup) rs1591374552
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) rs1338023969
NM_000019.4(ACAT1):c.1043del (p.Ala348fs) rs1565297769
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) rs1367121673
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys) rs1591374629
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys) rs1591374629
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val) rs1591374632
NM_000019.4(ACAT1):c.1097dup (p.Met366fs)
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter) rs2134791667
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile) rs377295639
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro) rs1184088336
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg) rs2134797745
NM_000019.4(ACAT1):c.120+1G>A
NM_000019.4(ACAT1):c.120+1G>T rs779908220
NM_000019.4(ACAT1):c.121-2A>G rs2135334384
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer) rs1591375882
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr) rs2135334430
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) rs1444451434
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.238+2T>C
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.261dup (p.Glu88fs) rs1201662412
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala) rs1565288701
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.334+2T>A
NM_000019.4(ACAT1):c.335-2A>G
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu) rs1591363715
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg) rs1037467160
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly) rs1591363786
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs) rs1591363795
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)
NM_000019.4(ACAT1):c.431A>C (p.His144Pro) rs1025180934
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs) rs2135356039
NM_000019.4(ACAT1):c.537del (p.Ile179fs) rs1415293773
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr) rs1591367592
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.579+2T>A rs112950994
NM_000019.4(ACAT1):c.580-2A>G
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs)
NM_000019.4(ACAT1):c.626dup (p.Asn209fs)
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn) rs1591368794
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.64_72+10del rs1318268067
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) rs1437567292
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu) rs1385465985
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.720dup (p.Thr241fs)
NM_000019.4(ACAT1):c.73-1G>A
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter) rs2134768525
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del) rs765961551
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu) rs983216159
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.814del (p.Gln272fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000019.4(ACAT1):c.826+2T>G rs2077590197
NM_000019.4(ACAT1):c.826+5G>T rs1591370366
NM_000019.4(ACAT1):c.844A>C (p.Asn282His) rs750195919
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs) rs398123097
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.940+2T>C rs963023006
NM_000019.4(ACAT1):c.940+2dup rs2134773243
NM_000023.4(SGCA):c.-1_9del (p.Met1fs) rs1057517107
NM_000023.4(SGCA):c.100C>A (p.Arg34Ser) rs758647756
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs) rs1598277713
NM_000023.4(SGCA):c.1052del (p.Arg351fs)
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.119del (p.Leu40fs)
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs) rs2144493427
NM_000023.4(SGCA):c.157+2T>G
NM_000023.4(SGCA):c.158-2A>G rs1057516300
NM_000023.4(SGCA):c.163_164del (p.Pro55fs)
NM_000023.4(SGCA):c.183dup (p.Tyr62fs) rs886044688
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.194A>C (p.His65Pro)
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)
NM_000023.4(SGCA):c.212A>T (p.Asp71Val)
NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)
NM_000023.4(SGCA):c.220del (p.Arg74fs) rs1555568325
NM_000023.4(SGCA):c.221G>C (p.Arg74Pro) rs779439298
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs) rs1567739339
NM_000023.4(SGCA):c.241C>A (p.Arg81Ser) rs398123098
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly) rs1555568396
NM_000023.4(SGCA):c.296G>A (p.Gly99Glu)
NM_000023.4(SGCA):c.307A>T (p.Ile103Phe)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.312+1G>A rs2144494642
NM_000023.4(SGCA):c.312+1G>C rs2144494642
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.329G>T (p.Arg110Leu)
NM_000023.4(SGCA):c.37+1G>A
NM_000023.4(SGCA):c.37+1G>C rs111386656
NM_000023.4(SGCA):c.37+1G>T
NM_000023.4(SGCA):c.37+2C>G rs112500642
NM_000023.4(SGCA):c.37+3A>T
NM_000023.4(SGCA):c.377dup (p.Asp126fs) rs1905070544
NM_000023.4(SGCA):c.386-1G>A
NM_000023.4(SGCA):c.391dup (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.472C>T (p.Leu158Phe) rs2144496721
NM_000023.4(SGCA):c.480_481del (p.Leu161fs) rs1057517142
NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter) rs1057516242
NM_000023.4(SGCA):c.558_559del (p.Leu187fs)
NM_000023.4(SGCA):c.559del (p.Leu187fs) rs1057516888
NM_000023.4(SGCA):c.582dup (p.Gly195fs)
NM_000023.4(SGCA):c.584+1G>A rs2144497138
NM_000023.4(SGCA):c.584+1del rs1555568876
NM_000023.4(SGCA):c.584+5G>A
NM_000023.4(SGCA):c.585-2A>T rs1555568965
NM_000023.4(SGCA):c.586G>A (p.Val196Ile) rs752695991
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.601G>A (p.Gly201Ser) rs2144498121
NM_000023.4(SGCA):c.602G>A (p.Gly201Asp) rs2144498132
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs) rs2144493097
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)
NM_000023.4(SGCA):c.701del (p.Asp234fs)
NM_000023.4(SGCA):c.71del (p.Gln24fs)
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.747G>T (p.Leu249=) rs2144498569
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.755del (p.Lys252fs) rs1057516548
NM_000023.4(SGCA):c.762del (p.Pro255fs)
NM_000023.4(SGCA):c.794del (p.Gly265fs)
NM_000023.4(SGCA):c.801dup (p.Ile268fs) rs1905256830
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs) rs1057516729
NM_000023.4(SGCA):c.84_90del (p.His29fs)
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.85dup (p.His29fs)
NM_000023.4(SGCA):c.86A>T (p.His29Leu) rs1387802849
NM_000023.4(SGCA):c.88C>T (p.Pro30Ser) rs1327595249
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter) rs1555569339
NM_000023.4(SGCA):c.956+1G>A
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342
NM_000023.4(SGCA):c.957-1G>T rs2144502043
NM_000023.4(SGCA):c.960_961insTC (p.Lys321fs)
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1087+1G>T
NM_000057.4(BLM):c.1087+2T>C
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1114del (p.Ile373fs) rs1555419704
NM_000057.4(BLM):c.1151del (p.Asp384fs) rs1555419724
NM_000057.4(BLM):c.1210del (p.Arg404fs) rs1555419742
NM_000057.4(BLM):c.1220+1G>A rs1555419748
NM_000057.4(BLM):c.1220+1G>T
NM_000057.4(BLM):c.1220+2T>C
NM_000057.4(BLM):c.1220+2T>G
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs) rs1057517266
NM_000057.4(BLM):c.1740del (p.Thr581fs) rs1057517432
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1795del (p.Arg599fs) rs1057517431
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) rs1555419980
NM_000057.4(BLM):c.1882+1G>C rs757841012
NM_000057.4(BLM):c.1882+2T>C
NM_000057.4(BLM):c.1883-1G>A rs772230310
NM_000057.4(BLM):c.1883-2A>G rs1555420142
NM_000057.4(BLM):c.1953_1956del (p.His651fs)
NM_000057.4(BLM):c.1A>C (p.Met1Leu) rs1215497457
NM_000057.4(BLM):c.2023dup (p.Ala675fs)
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2307+1G>A
NM_000057.4(BLM):c.2307+2T>G rs2151164052
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs) rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2407-1G>A rs1555420871
NM_000057.4(BLM):c.2407-2A>G
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
NM_000057.4(BLM):c.2516del (p.Lys839fs)
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr) rs767086502
NM_000057.4(BLM):c.2548_2555+12del
NM_000057.4(BLM):c.2555+1G>A
NM_000057.4(BLM):c.2555+1G>T rs1555420917
NM_000057.4(BLM):c.2556-1G>T rs1896650174
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs) rs1567052178
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2603del (p.Pro868fs)
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2662+2T>G rs1567052324
NM_000057.4(BLM):c.2663-2A>G rs1567053170
NM_000057.4(BLM):c.2677dup (p.Ile893fs)
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs) rs1057516452
NM_000057.4(BLM):c.2756del (p.His919fs)
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2807del (p.Asn936fs) rs1245531016
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter) rs1057516700
NM_000057.4(BLM):c.2823_2823+3del
NM_000057.4(BLM):c.2824-1G>C rs1555423062
NM_000057.4(BLM):c.2824-2A>C rs745538883
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs) rs797045115
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.3022del (p.Glu1008fs) rs1057516719
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3210+1G>A
NM_000057.4(BLM):c.3211-2A>G
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3265del (p.Gln1089fs)
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3358+1G>A
NM_000057.4(BLM):c.3358+1G>T
NM_000057.4(BLM):c.3359-1G>A
NM_000057.4(BLM):c.3359-2A>G
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter) rs1057516774
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs) rs2151194257
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3554_3559-116del
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3751+1G>A rs1897239335
NM_000057.4(BLM):c.3751+2T>C rs1897239414
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3845dup (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter) rs1057516728
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
NM_000057.4(BLM):c.3874+1G>A
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-1G>A rs2151199690
NM_000057.4(BLM):c.3875-2A>T rs150421256
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
NM_000057.4(BLM):c.3901del (p.Leu1301fs) rs1555425063
NM_000057.4(BLM):c.3917del (p.Gly1306fs) rs764086459
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter) rs1555425074
NM_000057.4(BLM):c.3956del (p.Ile1319fs) rs1555425080
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
NM_000057.4(BLM):c.443dup (p.Leu148fs) rs1057516297
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.516del (p.Gln174fs)
NM_000057.4(BLM):c.543del (p.Ser181fs) rs1555418380
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.662_665del (p.Thr221fs) rs1057517229
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.746del (p.Asn249fs)
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.799+1G>A
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
NM_000057.4(BLM):c.8_9dup (p.Val4fs)
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.959_959+16del
NM_000057.4(BLM):c.960-1G>A rs1596223715
NM_000057.4(BLM):c.960-1G>T rs1596223715
NM_000057.4(BLM):c.960-2A>C rs1286600850
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000057.4(BLM):c.98_98+1del
NM_000057.4(BLM):c.99-1G>C rs897262346
NM_000057.4(BLM):c.99-1G>T
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000067.3(CA2):c.275A>C (p.Gln92Pro) rs1304160279
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter) rs1203921376
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.[223dupT];[439C>T]
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly) rs1555421271
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1115+1G>A rs1555421293
NM_000070.3(CAPN3):c.1115+2T>A rs1057524468
NM_000070.3(CAPN3):c.1115+2T>C rs1057524468
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)
NM_000070.3(CAPN3):c.1193+1G>A
NM_000070.3(CAPN3):c.1194-2del rs2141193533
NM_000070.3(CAPN3):c.1198del (p.Ser400fs) rs1555421842
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe) rs371784007
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter) rs1555421847
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs) rs1555421854
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)
NM_000070.3(CAPN3):c.1354+1G>A
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del) rs746075428
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr) rs1555422111
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1525-1G>T rs2053889963
NM_000070.3(CAPN3):c.1525-2A>G
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe) rs1409503203
NM_000070.3(CAPN3):c.1536+3A>G
NM_000070.3(CAPN3):c.1558_1559del (p.Leu520fs)
NM_000070.3(CAPN3):c.1642del (p.Arg548fs) rs1555422293
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs) rs1555422298
NM_000070.3(CAPN3):c.1711del (p.Leu571fs) rs1334369407
NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1782+2T>C rs754930571
NM_000070.3(CAPN3):c.1783-5_1784del
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu) rs200759807
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter) rs1555422839
NM_000070.3(CAPN3):c.1882del (p.Thr628fs) rs1555422847
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter) rs1595844413
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)
NM_000070.3(CAPN3):c.1914+2T>C rs1555422856
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs) rs1555422954
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter) rs777636094
NM_000070.3(CAPN3):c.1963del (p.Arg655fs) rs1566984441
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter) rs1555423015
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs) rs1555423021
NM_000070.3(CAPN3):c.2042_2043del (p.Val681fs)
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2051-1G>C rs886042108
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter) rs2054157050
NM_000070.3(CAPN3):c.2112_2115+2del
NM_000070.3(CAPN3):c.2115+1_2115+2dup rs760919949
NM_000070.3(CAPN3):c.2116-1G>C
NM_000070.3(CAPN3):c.212del (p.Lys71fs) rs1555417321
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter) rs774048414
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter) rs2054179951
NM_000070.3(CAPN3):c.2184+2T>C rs1555423146
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter) rs1595847257
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)
NM_000070.3(CAPN3):c.2256_2257del (p.Asn752fs)
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys) rs2141225644
NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val) rs752397587
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter) rs1447774727
NM_000070.3(CAPN3):c.2380+1G>T rs1555423222
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter) rs2054206966
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2439+1G>T
NM_000070.3(CAPN3):c.2440-1G>C rs886044052
NM_000070.3(CAPN3):c.290dup (p.Val98fs) rs1595794433
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr) rs1555417257
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter) rs2053335168
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly) rs1566973583
NM_000070.3(CAPN3):c.369del (p.Gly124fs) rs1555420083
NM_000070.3(CAPN3):c.379+1G>A
NM_000070.3(CAPN3):c.379+3A>T rs1164215001
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)
NM_000070.3(CAPN3):c.380-8_395del rs1555420302
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter) rs2053442769
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)
NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln) rs2141164715
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000070.3(CAPN3):c.632+1del rs1566975163
NM_000070.3(CAPN3):c.633-1G>A
NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp) rs761430243
NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro) rs2053478068
NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser) rs1432632972
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)
NM_000070.3(CAPN3):c.741_751del (p.Met248fs) rs1555420647
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter) rs757448865
NM_000070.3(CAPN3):c.754A>G (p.Met252Val) rs2053483911
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter) rs2053484604
NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)
NM_000070.3(CAPN3):c.802-1G>A
NM_000070.3(CAPN3):c.802-2A>G rs2141170197
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.3(CAPN3):c.945+1G>A
NM_000070.3(CAPN3):c.945+1G>T rs1375420170
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter) rs2053589887
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000070.3:g.(42408325_42409302)_(42412214_?)del
NM_000082.4(ERCC8):c.1042-1G>C rs897535441
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000082.4(ERCC8):c.274dup (p.Arg92fs)
NM_000082.4(ERCC8):c.276-2A>G rs1554074597
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) rs1131691783
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter) rs143367518
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter) rs1749495521
NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs)
NM_000082.4(ERCC8):c.482-2A>G rs1554073420
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)
NM_000082.4(ERCC8):c.572_574del (p.Ala191del)
NM_000082.4(ERCC8):c.592del (p.Tyr198fs)
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) rs2112491212
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter) rs1748819276
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.4(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.4(ERCC8):c.719-2A>G rs1554073117
NM_000082.4(ERCC8):c.719-2A>T rs1554073117
NM_000082.4(ERCC8):c.77+2T>G rs1554076239
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala) rs281875225
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter) rs1748531932
NM_000082.4(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter) rs1749828987
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter) rs1748527879
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.1064+1G>A
NM_000083.3(CLCN1):c.1099del (p.Tyr367fs)
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1252-1G>T
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser) rs1486868849
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu)
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys)
NM_000083.3(CLCN1):c.1471+2del rs2116864878
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu)
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1582+1G>A
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) rs762754992
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe)
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) rs1586510615
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) rs1269268607
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His)
NM_000083.3(CLCN1):c.1796+1G>A
NM_000083.3(CLCN1):c.181-2A>G rs1802376231
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.1931-1G>C rs2116383424
NM_000083.3(CLCN1):c.1984C>T (p.Gln662Ter)
NM_000083.3(CLCN1):c.1997_1998del (p.Cys666fs)
NM_000083.3(CLCN1):c.2001dup (p.Glu668Ter)
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp) rs1563087092
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala) rs1803225186
NM_000083.3(CLCN1):c.2284+1G>A
NM_000083.3(CLCN1):c.2365-1G>A
NM_000083.3(CLCN1):c.2403+1G>A
NM_000083.3(CLCN1):c.2508+1G>A
NM_000083.3(CLCN1):c.2509-2A>C
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.433+1G>A
NM_000083.3(CLCN1):c.434-1G>A
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) rs771532474
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg)
NM_000083.3(CLCN1):c.562+1G>C rs2116837885
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val) rs746401512
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe) rs2116838394
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala)
NM_000083.3(CLCN1):c.603dup (p.Val202fs)
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg) rs2116838620
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
NM_000083.3(CLCN1):c.697-1G>C rs773025750
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) rs776173406
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.774+3A>C
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val)
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly) rs757109632
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) rs80356688
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile)
NM_000083.3(CLCN1):c.871G>T (p.Glu291Ter)
NM_000083.3(CLCN1):c.891del (p.Phe297fs)
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val)
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg) rs1802702027
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro) rs80356702
NM_000083.3(CLCN1):c.980-2A>G
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr)
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp) rs2144563979
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.1015_1016insTGAAA (p.Gly339fs)
NM_000091.5(COL4A3):c.1042_1043delinsT (p.Asp348fs)
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter)
NM_000091.5(COL4A3):c.1114+1G>A rs1286895614
NM_000091.5(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter) rs1348174898
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter) rs2070736908
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1262del (p.Gly421fs) rs2125972772
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1361del (p.Pro454fs)
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) rs2125981235
NM_000091.5(COL4A3):c.1407del (p.Gly470fs) rs766025194
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter) rs2070901479
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter) rs2068937789
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter) rs921768118
NM_000091.5(COL4A3):c.1572dup (p.Pro525fs)
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter) rs2071189852
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter)
NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs)
NM_000091.5(COL4A3):c.1682_1685del (p.Gln561fs)
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter)
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter) rs920504687
NM_000091.5(COL4A3):c.1758+1G>A rs1553757096
NM_000091.5(COL4A3):c.1767_1773del (p.Ser589fs)
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1]) rs1444785718
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter) rs773515249
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu) rs2125996486
NM_000091.5(COL4A3):c.1879del (p.Gln627fs)
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) rs2106132144
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.5(COL4A3):c.2076_2077del (p.Glu693fs)
NM_000091.5(COL4A3):c.2126-1G>C rs2071831565
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala) rs267599232
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter)
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2]) rs1553759665
NM_000091.5(COL4A3):c.234+1G>A rs1240838887
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2444dup (p.Ala816fs)
NM_000091.5(COL4A3):c.2456_2457insACTGTCTCTTA (p.Pro820fs)
NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter) rs2072046147
NM_000091.5(COL4A3):c.2591_2592insT (p.Gln864fs)
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter)
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter) rs2072047738
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.2673_2676delinsATTTTCGA (p.Gly892fs)
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter) rs2069240492
NM_000091.5(COL4A3):c.2830_2831delinsG (p.Pro944fs)
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter) rs2072184526
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
NM_000091.5(COL4A3):c.2870del (p.Pro957fs)
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter) rs2072530756
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.5(COL4A3):c.304dup (p.Ser102fs)
NM_000091.5(COL4A3):c.305del (p.Ser102fs) rs2069242131
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3070+1G>A rs2106206598
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) rs2072649241
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter) rs2072651666
NM_000091.5(COL4A3):c.3206del (p.Pro1069fs)
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
NM_000091.5(COL4A3):c.325-1G>A rs762518741
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter)
NM_000091.5(COL4A3):c.3327_3330del (p.Gly1110fs)
NM_000091.5(COL4A3):c.3337+1del rs1350835100
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter) rs2072936269
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter) rs2072936529
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter) rs2072936636
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) rs774583962
NM_000091.5(COL4A3):c.3561_3562del (p.Gln1188fs)
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter) rs2072983130
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.3647del (p.Gly1216fs)
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.5(COL4A3):c.3749del (p.Pro1250fs)
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg) rs2106250807
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3883-2A>G rs1553765265
NM_000091.5(COL4A3):c.3915del (p.Arg1306fs)
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter) rs2073363435
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs)
NM_000091.5(COL4A3):c.4004del (p.Pro1335fs)
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter) rs2073400756
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter) rs2073401408
NM_000091.5(COL4A3):c.4100del (p.Gly1367fs)
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter)
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter) rs2073446479
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter) rs2073567181
NM_000091.5(COL4A3):c.4298del (p.Gly1433fs)
NM_000091.5(COL4A3):c.4307del (p.Gly1436fs)
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter)
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter) rs2073628823
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter) rs2073630720
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter)
NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs)
NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs)
NM_000091.5(COL4A3):c.4640+1G>A rs1553766404
NM_000091.5(COL4A3):c.468+1G>A rs1553751122
NM_000091.5(COL4A3):c.468+1G>T rs1553751122
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter)
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.4756-1G>A rs1553766735
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys) rs2069716520
NM_000091.5(COL4A3):c.570del (p.Pro191fs)
NM_000091.5(COL4A3):c.610-1G>A
NM_000091.5(COL4A3):c.615del (p.Pro206fs)
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter)
NM_000091.5(COL4A3):c.645+2T>C rs1553752199
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) rs2069900248
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) rs1574698507
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) rs2125932297
NM_000091.5(COL4A3):c.700_701del (p.Leu234fs)
NM_000091.5(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer)
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) rs2125934541
NM_000091.5(COL4A3):c.803dup (p.Glu269fs)
NM_000091.5(COL4A3):c.829-2A>C rs1553753119
NM_000091.5(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.5(COL4A3):c.894del (p.Lys298fs) rs2070145822
NM_000091.5(COL4A3):c.94_95del (p.Val32fs)
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter) rs768527987
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter) rs2060519888
NM_000092.5(COL4A4):c.1029+2T>C rs1553682895
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1030-2del rs2150750057
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1073T>A (p.Leu358Ter)
NM_000092.5(COL4A4):c.1099+1G>T rs1372782305
NM_000092.5(COL4A4):c.114+1G>C rs1553712110
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs) rs2150687684
NM_000092.5(COL4A4):c.1268del (p.Gly423fs)
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.1369+1G>A rs1553676230
NM_000092.5(COL4A4):c.1400del (p.Pro467fs)
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter) rs2059821994
NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs)
NM_000092.5(COL4A4):c.1459+1G>A
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs) rs2150596830
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) rs2150595867
NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter)
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val) rs2150595484
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter) rs2059358378
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+1G>T rs954701825
NM_000092.5(COL4A4):c.1697-1G>A rs1559569975
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter)
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs)
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.5(COL4A4):c.1850dup (p.Leu618fs)
NM_000092.5(COL4A4):c.1865dup (p.Lys623fs)
NM_000092.5(COL4A4):c.186dup (p.Ser63fs)
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val) rs2059121113
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter) rs2059119564
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter) rs1976602205
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter)
NM_000092.5(COL4A4):c.2207del (p.Lys736fs)
NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs)
NM_000092.5(COL4A4):c.2241del (p.Gly748fs)
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.2297_2298del (p.His766fs)
NM_000092.5(COL4A4):c.2346del (p.Gly783fs)
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter)
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter) rs768902127
NM_000092.5(COL4A4):c.2629_2664del (p.Arg877_Gly888del) rs2150234491
NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu) rs2150221180
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter) rs2061755379
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
NM_000092.5(COL4A4):c.2880dup (p.Asp961fs)
NM_000092.5(COL4A4):c.2894dup (p.Met965fs)
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs) rs1974295317
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.2968+1G>T
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter) rs1974009894
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)
NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs)
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter) rs746105339
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter)
NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs)
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter)
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter) rs1973992894
NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs)
NM_000092.5(COL4A4):c.3151-2A>G rs1369097739
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter)
NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs)
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter) rs1973140216
NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs)
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter) rs1973132502
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)
NM_000092.5(COL4A4):c.328-1G>A rs754669149
NM_000092.5(COL4A4):c.3281del (p.Gly1094fs)
NM_000092.5(COL4A4):c.3289+1G>C rs1973128133
NM_000092.5(COL4A4):c.3297del (p.Phe1099fs)
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter) rs1971792460
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter)
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter) rs1971610561
NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs)
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg) rs1968850188
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter) rs1968848668
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.3594del (p.Pro1199fs)
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg) rs1968585119
NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs)
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys) rs781360383
NM_000092.5(COL4A4):c.3719del (p.Pro1240fs)
NM_000092.5(COL4A4):c.372+2T>G rs1553696207
NM_000092.5(COL4A4):c.3755del (p.Lys1252fs)
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.3973+1G>T rs755478262
NM_000092.5(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter) rs2149854376
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter)
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter) rs1963884904
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del) rs2149745228
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg) rs1963420059
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs) rs2149722718
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs) rs2149721718
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs) rs2149720724
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4809+1G>A rs1553612309
NM_000092.5(COL4A4):c.487dup (p.Leu163fs)
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp) rs2061397001
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg)
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter)
NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) rs2060994526
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala) rs2060993539
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
NM_000092.5(COL4A4):c.75_76del (p.Leu26fs)
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)
NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys)
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) rs1005389790
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter) rs34509421
NM_000092.5(COL4A4):c.975+1G>C rs1553683192
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter) rs2060521689
NM_000123.3:c.89-?_528+?del
NM_000123.4(ERCC5):c.1068del (p.Ser357fs) rs1325131028
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) rs755253596
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.323del (p.Lys108fs)
NM_000123.4(ERCC5):c.381-2A>G
NM_000124.4(ERCC6):c.-15+3G>T rs1010201937
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs)
NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)
NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)
NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)
NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)
NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)
NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)
NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter) rs1851434105
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000124.4(ERCC6):c.1684A>T (p.Arg562Trp) rs777252763
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter) rs768188064
NM_000124.4(ERCC6):c.1815del (p.His605fs)
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter) rs961060711
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter) rs1851015811
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2106del (p.Phe703fs)
NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter) rs1850916835
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)
NM_000124.4(ERCC6):c.2336del (p.Phe779fs) rs2132544294
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter) rs1850874595
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter) rs1850832795
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter) rs1850832063
NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)
NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter) rs1850831525
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr) rs1554875536
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter) rs1283213117
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter) rs1850797541
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter) rs1850770605
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter) rs1850769140
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter) rs1850766086
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs) rs1850765501
NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter) rs144445150
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter) rs1850759141
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter) rs1850757159
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter) rs1286402535
NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter) rs1850754584
NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter) rs1850753467
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter) rs786205173
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter) rs2228527
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter) rs1850750513
NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter) rs1850747928
NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
NM_000124.4(ERCC6):c.3778+1G>A rs1554875114
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs) rs2132639937
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer) rs1850531575
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs) rs1272960343
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
NM_000124.4(ERCC6):c.542dup (p.Glu182fs)
NM_000124.4(ERCC6):c.543+1G>T rs1837448977
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter) rs1837393519
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser) rs2141317422
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000144.5(FXN):c.166-5T>G rs2133102338
NM_000144.5(FXN):c.517T>G (p.Trp173Gly) rs56214919
NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr) rs2106933976
NM_000161.3(GCH1):c.644T>C (p.Met215Thr) rs2140038918
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.359dup (p.Met121fs) rs2128822614
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000163.5(GHR):c.344A>C (p.Asn115Thr) rs1579626395
NM_000163.5(GHR):c.618+792A>G rs1011727375
NM_000163.5(GHR):c.70+5G>A rs2112477601
NM_000165.5(GJA1):c.121G>C (p.Val41Leu)
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) rs1773899790
NM_000165.5(GJA1):c.196T>C (p.Tyr66His) rs2114283106
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)
NM_000165.5(GJA1):c.246C>G (p.Ile82Met) rs1773901440
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) rs1554201019
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1012del (p.Leu338fs)
NM_000180.4(GUCY2D):c.1026+2T>C
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs) rs763890649
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro) rs1975743813
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1391del (p.Gly464fs) rs1567958644
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.144del (p.Ala49fs) rs1567956946
NM_000180.4(GUCY2D):c.1567-1G>C rs2151801050
NM_000180.4(GUCY2D):c.1749+1G>A rs2151801563
NM_000180.4(GUCY2D):c.1750-12_1752del
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1924T>G (p.Phe642Val) rs1975868246
NM_000180.4(GUCY2D):c.1937T>C (p.Leu646Pro) rs1975868606
NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro) rs1975868797
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.2006C>G (p.Ser669Ter) rs2151802518
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val) rs781725943
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val) rs2151802780
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu) rs750153057
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000180.4(GUCY2D):c.2263+1G>A
NM_000180.4(GUCY2D):c.2264-1G>A
NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg) rs1975909279
NM_000180.4(GUCY2D):c.2393T>G (p.Met798Arg) rs1975911358
NM_000180.4(GUCY2D):c.2412+2T>C rs2151803131
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala) rs2151803362
NM_000180.4(GUCY2D):c.2576+1G>A
NM_000180.4(GUCY2D):c.2577-2A>G
NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser) rs762981013
NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly) rs573270795
NM_000180.4(GUCY2D):c.2769+1G>A
NM_000180.4(GUCY2D):c.2770-34_2925del
NM_000180.4(GUCY2D):c.2783G>C (p.Gly928Ala) rs1975943992
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr) rs1975945845
NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser) rs1975945845
NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr) rs1306952187
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg) rs2151803661
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu) rs764954235
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3043+4A>T rs61750189
NM_000180.4(GUCY2D):c.3043+5G>A rs751822337
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro) rs1429807175
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs) rs1555635925
NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly) rs1975971228
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup) rs63749076
NM_000180.4(GUCY2D):c.571dup (p.Gln191fs)
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000180.4(GUCY2D):c.826del (p.Leu276fs) rs2151799674
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn) rs1975693830
NM_000180.4(GUCY2D):c.[1978C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[1991A>C];[2649del]
NM_000180.4(GUCY2D):c.[1991A>C];[2984G>A]
NM_000180.4(GUCY2D):c.[2649del];[3038G>A]
NM_000180.4(GUCY2D):c.[2818C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[2984G>A];[3044-1G>C]
NM_000207.3(INS):c.26C>G (p.Pro9Arg) rs1564912403
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) rs121908277
NM_000208.4(INSR):c.1610+1G>A
NM_000208.4(INSR):c.2810C>T (p.Thr937Met)
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) rs2083749716
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_000211.5(ITGB2):c.59-1G>A
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.741+1G>A rs1131691763
NM_000211.5(ITGB2):c.742-163_768del
NM_000211.5(ITGB2):c.898-1G>C rs755834578
NM_000211.5(ITGB2):c.993+1G>T
NM_000211.5(ITGB2):c.994-1G>C rs1293268696
NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)
NM_000231.3(SGCG):c.133del (p.Ile45fs) rs1555234799
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.186G>A (p.Trp62Ter) rs1555234810
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.196-1G>A
NM_000231.3(SGCG):c.247G>T (p.Glu83Ter) rs1566011034
NM_000231.3(SGCG):c.253_254del (p.Glu85fs)
NM_000231.3(SGCG):c.260T>A (p.Leu87Ter)
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
NM_000231.3(SGCG):c.284_287del (p.Ile95fs)
NM_000231.3(SGCG):c.298-2A>C rs1555240119
NM_000231.3(SGCG):c.298-2A>G
NM_000231.3(SGCG):c.302C>A (p.Ser101Ter)
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)
NM_000231.3(SGCG):c.369dup (p.Gly124fs)
NM_000231.3(SGCG):c.385+1G>A
NM_000231.3(SGCG):c.385+2T>A rs200206447
NM_000231.3(SGCG):c.385+2T>G rs200206447
NM_000231.3(SGCG):c.386-2A>C rs886042757
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.450_456del (p.Leu150_Phe151insTer)
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg) rs1555245351
NM_000231.3(SGCG):c.578+1G>C rs1555245353
NM_000231.3(SGCG):c.578+1G>T
NM_000231.3(SGCG):c.579-1G>A
NM_000231.3(SGCG):c.579-1G>C
NM_000231.3(SGCG):c.580_584del
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) rs547818652
NM_000231.3(SGCG):c.591dup (p.Thr198fs) rs1555247973
NM_000231.3(SGCG):c.684del (p.His229fs) rs2137528312
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000231.3(SGCG):c.702+1G>A rs1555248000
NM_000231.3(SGCG):c.702+1G>C rs1555248000
NM_000231.3(SGCG):c.721del (p.Thr241fs) rs1555248289
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.758dup (p.Pro254fs)
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.796del (p.Val266fs)
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs) rs2137534216
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000231.3(SGCG):c.85dup (p.Tyr29fs)
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.-15_8del (p.Met1fs) rs1057517205
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.102del (p.Glu35fs) rs2109376007
NM_000232.5(SGCB):c.113_120delinsATAAAGAGCACA (p.Ser38fs)
NM_000232.5(SGCB):c.151dup (p.Arg51fs)
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.216_219del (p.Phe73fs) rs1057516360
NM_000232.5(SGCB):c.243+1G>T rs1553940663
NM_000232.5(SGCB):c.243+2T>G rs1553940661
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.33+1G>A rs1553940957
NM_000232.5(SGCB):c.33+2T>A rs2109380796
NM_000232.5(SGCB):c.334C>T (p.Gln112Ter) rs1553940262
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000232.5(SGCB):c.374del (p.Ser125fs)
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.404T>A (p.Leu135Ter)
NM_000232.5(SGCB):c.429+2dup
NM_000232.5(SGCB):c.430-2A>G
NM_000232.5(SGCB):c.491_494delinsTTG (p.Ser164fs)
NM_000232.5(SGCB):c.532dup (p.Ile178fs)
NM_000232.5(SGCB):c.539del (p.Phe180fs) rs1737176330
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.5(SGCB):c.55_56insGAGACAGT (p.Lys19fs)
NM_000232.5(SGCB):c.573_574delinsCAA (p.Leu191fs)
NM_000232.5(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.5(SGCB):c.610T>C (p.Ser204Pro) rs886044156
NM_000232.5(SGCB):c.621+2T>C
NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)
NM_000232.5(SGCB):c.630C>G (p.Ser210Arg)
NM_000232.5(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.699_702del (p.Phe233fs) rs1057516515
NM_000232.5(SGCB):c.703dup (p.Met235fs)
NM_000232.5(SGCB):c.734dup (p.Gly245_Asn246insTer)
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000232.5(SGCB):c.75_76insTCGT (p.Ala26fs)
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000232.5(SGCB):c.82_86del (p.Glu28fs) rs1553940687
NM_000232.5(SGCB):c.919_921del (p.Cys307del)
NM_000237.3(LPL):c.991A>G (p.Lys331Glu) rs2069982771
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
NM_000243.2:c.(?_911)_(1356_?)del
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs) rs751375381
NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs) rs1179528365
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) rs1662641467
NM_000254.3(MTR):c.1188+1G>A rs2103130072
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.2021G>A (p.Arg674His) rs774231870
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2305-1G>T rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000254.3(MTR):c.2595-2A>G rs1558334603
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2851+2T>G rs2147922731
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-4A>G rs1224783275
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) rs1400658126
NM_000254.3(MTR):c.34+2T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C rs1572218599
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) rs1555051390
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter) rs1951307710
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr) rs782432573
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs) rs1591286221
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter) rs1951308166
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.133del rs1591224147
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter) rs1953058015
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter) rs1953066164
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs) rs2135345560
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.1798-1G>T rs1555076948
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.1804del (p.Glu602fs) rs2135406368
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter) rs1954237712
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter) rs1954248090
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter) rs1954250327
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter) rs1954477050
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) rs1555078942
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)
NM_000260.4(MYO7A):c.2116del (p.Gln706fs)
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) rs1565402473
NM_000260.4(MYO7A):c.2355del (p.Asn786fs) rs1591369118
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter) rs1555082575
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)
NM_000260.4(MYO7A):c.2441del (p.Arg814fs)
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter) rs1955017383
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter) rs1407246264
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)
NM_000260.4(MYO7A):c.2648del (p.Glu883fs)
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)
NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del) rs1955175992
NM_000260.4(MYO7A):c.2779del (p.Glu927fs)
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter) rs1955177223
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter) rs1955180601
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) rs1296612982
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter) rs1955281533
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs) rs1955319492
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter) rs1955333327
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter) rs1307924861
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter) rs1555051419
NM_000260.4(MYO7A):c.3504-1G>A
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) rs1565430886
NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs)
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) rs750358148
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs) rs1955999847
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs) rs2135563245
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu)
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter) rs1956130442
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter) rs1956149175
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) rs2135577456
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter) rs1956480240
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter) rs1956485578
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter) rs1956496669
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter) rs1956761177
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter) rs1956761416
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter) rs1956843097
NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys)
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.471-2A>C
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter) rs1181067492
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.4852+2T>C rs2135682219
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) rs1591467918
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) rs782347270
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter) rs1591474980
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)
NM_000260.4(MYO7A):c.5326+3A>G rs1565469959
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter) rs768418736
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) rs746667217
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro)
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter) rs1957393464
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter) rs1957431273
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter) rs1406392019
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter) rs1957520697
NM_000260.4(MYO7A):c.5856+5G>C rs1386887007
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter) rs1957642707
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter) rs186644871
NM_000260.4(MYO7A):c.602del (p.Asn201fs)
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro) rs770778096
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter) rs1957842461
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter) rs530700420
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter) rs1957851234
NM_000260.4(MYO7A):c.6237+1G>A rs1338605788
NM_000260.4(MYO7A):c.6238-1G>C rs1957902751
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter) rs1957904821
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter) rs1957904821
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) rs1223784415
NM_000260.4(MYO7A):c.6491del (p.Asn2164fs) rs2135802675
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter) rs1952532000
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys) rs2135244325
NM_000260.4(MYO7A):c.767del (p.Tyr256fs)
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter) rs1555064033
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter) rs2135244869
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)
NM_000260.4(MYO7A):c.83_84del (p.Val28fs)
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter) rs1952585733
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter) rs1952682554
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter) rs782747153
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter) rs1555637232
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter) rs2058953311
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs) rs2145457097
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs) rs1555637164
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del) rs1599011473
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu) rs373751051
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
NM_000271.5(NPC1):c.1293del (p.Phe431fs) rs2145455429
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.1327-1G>A rs1057516813
NM_000271.5(NPC1):c.1327-1G>C rs1057516813
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter) rs2058929021
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr) rs2145447716
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) rs1555642296
NM_000271.5(NPC1):c.1454_1459del (p.Leu485_Asn486del)
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu) rs2145446753
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg) rs2145433298
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser) rs2145433190
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.1711del (p.Tyr571fs) rs1057517455
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
NM_000271.5(NPC1):c.1757+1G>A
NM_000271.5(NPC1):c.1758-3_1761del
NM_000271.5(NPC1):c.1761del (p.Phe587fs) rs1057517197
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
NM_000271.5(NPC1):c.180+1G>C rs2059231880
NM_000271.5(NPC1):c.180+1G>T
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser) rs745777805
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.1844G>A (p.Arg615His) rs773351341
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr) rs2145544950
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.1947+1G>A rs1555634690
NM_000271.5(NPC1):c.1947+2T>A rs764472245
NM_000271.5(NPC1):c.1947+2T>G rs764472245
NM_000271.5(NPC1):c.1948-2A>T rs1555634513
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu) rs376213990
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
NM_000271.5(NPC1):c.1A>G (p.Met1Val) rs1057517005
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2072dup (p.Phe692fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter) rs2058754064
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser) rs2058753693
NM_000271.5(NPC1):c.2131-2_2131del rs1555634236
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly) rs2145394815
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2246-1G>A
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly) rs1555633697
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2383_2384del (p.Leu795fs)
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs) rs1555633637
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
NM_000271.5(NPC1):c.2514+1G>A
NM_000271.5(NPC1):c.2519C>A (p.Ala840Glu) rs2145378239
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)
NM_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter) rs2058698654
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter) rs2058698544
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter) rs1555633361
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
NM_000271.5(NPC1):c.2712del (p.Gln905fs) rs1555633309
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter) rs2058687419
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter) rs786204641
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
NM_000271.5(NPC1):c.2775del (p.Asn925fs) rs1057516603
NM_000271.5(NPC1):c.2795+56C>T rs2058685029
NM_000271.5(NPC1):c.2796-2A>T
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter) rs2058679233
NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs) rs761910746
NM_000271.5(NPC1):c.2911+1del rs1555633118
NM_000271.5(NPC1):c.2911+2del rs2058678962
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser) rs28942108
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs) rs2145366898
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs) rs1555632977
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)
NM_000271.5(NPC1):c.3041+2del rs2058665849
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3042-2_3042-1del
NM_000271.5(NPC1):c.3042-2del rs797044431
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter) rs1446718670
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
NM_000271.5(NPC1):c.3232del (p.Val1078fs)
NM_000271.5(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter) rs1598937493
NM_000271.5(NPC1):c.3276_3277del (p.Thr1093fs)
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter) rs2059164764
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.3325del (p.Ile1109fs) rs1057517149
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter) rs2059164609
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs) rs1057516647
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg) rs2145350224
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)
NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter) rs1555632182
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs)
NM_000271.5(NPC1):c.3478-1G>C
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala) rs1194990534
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu) rs748862167
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg) rs2058596611
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs) rs1555631957
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe) rs1234099104
NM_000271.5(NPC1):c.3591+121C>T
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3591+2dup rs2145342749
NM_000271.5(NPC1):c.3592-1G>C rs1555631653
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs) rs1555631642
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs) rs1555631610
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.3754+1G>A rs1555631571
NM_000271.5(NPC1):c.3754+1G>C rs1555631571
NM_000271.5(NPC1):c.3754+1G>T rs1555631571
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.378del (p.Glu127fs)
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.397del (p.Val133fs) rs1057517186
NM_000271.5(NPC1):c.3G>A (p.Met1Ile) rs1555645630
NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs) rs1555641027
NM_000271.5(NPC1):c.425_428del (p.Lys142fs) rs770580241
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter) rs1057516749
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.463+1G>A
NM_000271.5(NPC1):c.463+2T>G rs2145526252
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter) rs752409181
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000271.5(NPC1):c.58-2A>T rs1555642347
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter) rs754653682
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer) rs1057516260
NM_000271.5(NPC1):c.631+1G>T
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter) rs2059021939
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
NM_000271.5(NPC1):c.747del (p.Lys250fs)
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000271.5(NPC1):c.852dup (p.Gly285fs) rs762124334
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter) rs2059018297
NM_000271.5(NPC1):c.881+1G>A
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter) rs2059233326
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter) rs150154006
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
NM_000271.5(NPC1):c.943del (p.Ala315fs)
NM_000271.5(NPC1):c.955+1G>A
NM_000271.5(NPC1):c.956-1G>T
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076
NM_000271.5(NPC1):c.[2727C>T;2793C>T]
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
NM_000277.1:c.[722delG;c.735G>A]
NM_000277.2(PAH):c.1200-1delG rs63186960
NM_000277.2(PAH):c.169_171delGAG rs199475665
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) rs281865434
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala) rs1169310686
NM_000277.3(PAH):c.1016C>T (p.Ser339Phe)
NM_000277.3(PAH):c.1023G>C (p.Lys341Asn)
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) rs62507282
NM_000277.3(PAH):c.1025C>A (p.Ala342Glu) rs796064501
NM_000277.3(PAH):c.1027T>A (p.Tyr343Asn) rs62508651
NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp) rs62508651
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser) rs62508679
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp) rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1043T>C (p.Leu348Pro) rs1874733519
NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs) rs62516157
NM_000277.3(PAH):c.1046C>A (p.Ser349Ter) rs62507279
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr) rs62517183
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)
NM_000277.3(PAH):c.1054G>C (p.Gly352Arg) rs62508686
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys) rs62508686
NM_000277.3(PAH):c.1057del (p.Glu353fs) rs2136636774
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1065+1G>T rs62516147
NM_000277.3(PAH):c.1065+241C>A rs2136636327
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1066-10_1070del rs1592947582
NM_000277.3(PAH):c.1066-13T>G rs1435691439
NM_000277.3(PAH):c.1066-14C>G rs62507334
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1066-7C>A rs1242756437
NM_000277.3(PAH):c.1069T>G (p.Cys357Gly) rs62508595
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1076C>T (p.Ser359Leu) rs5030854
NM_000277.3(PAH):c.1081A>C (p.Lys361Gln) rs772918939
NM_000277.3(PAH):c.1081A>T (p.Lys361Ter)
NM_000277.3(PAH):c.1084C>T (p.Pro362Ser)
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg) rs1592947563
NM_000277.3(PAH):c.1087A>T (p.Lys363Ter)
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) rs62516097
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser) rs2136635839
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1105C>G (p.Leu369Val) rs2136635779
NM_000277.3(PAH):c.1108del (p.Glu370fs)
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.110T>C (p.Leu37Pro) rs869312996
NM_000277.3(PAH):c.1111A>T (p.Lys371Ter)
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.1115C>G (p.Thr372Arg) rs2136635740
NM_000277.3(PAH):c.1117G>A (p.Ala373Thr) rs62508717
NM_000277.3(PAH):c.1118C>A (p.Ala373Asp) rs1874694965
NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp) rs1874693635
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys) rs62642942
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1146C>G (p.Phe382Leu) rs1874691554
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1154T>C (p.Leu385Pro)
NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His) rs2136635586
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp) rs199475691
NM_000277.3(PAH):c.1159T>C (p.Tyr387His) rs62517194
NM_000277.3(PAH):c.1159T>G (p.Tyr387Asp) rs62517194
NM_000277.3(PAH):c.1163T>C (p.Val388Ala) rs281865435
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly) rs281865453
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs) rs1429055740
NM_000277.3(PAH):c.1172G>C (p.Ser391Thr) rs869312997
NM_000277.3(PAH):c.1177_1178insT (p.Asn393fs)
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr) rs62516142
NM_000277.3(PAH):c.1180del (p.Asp394fs) rs1555203666
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala) rs62516102
NM_000277.3(PAH):c.1184C>A (p.Ala395Asp) rs62508736
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg) rs776178623
NM_000277.3(PAH):c.1194A>G (p.Lys398=) rs199475638
NM_000277.3(PAH):c.1196T>C (p.Val399Ala) rs281865436
NM_000277.3(PAH):c.1196_1199del (p.Val399fs) rs199475603
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1199+2T>G rs62508737
NM_000277.3(PAH):c.1199+4A>G rs1471682834
NM_000277.3(PAH):c.1199+5G>T rs62508674
NM_000277.3(PAH):c.1200-3T>G rs1874550090
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1209del (p.Ala404fs) rs1555203401
NM_000277.3(PAH):c.120_121del (p.Leu41fs)
NM_000277.3(PAH):c.1217T>C (p.Ile406Thr) rs62644469
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) rs62644465
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.3(PAH):c.1228T>A (p.Phe410Ile) rs1874543567
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys) rs62644475
NM_000277.3(PAH):c.1232C>A (p.Ser411Ter) rs62644477
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.1249T>G (p.Tyr417Asp) rs62644471
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys) rs1371700813
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile) rs1874539947
NM_000277.3(PAH):c.1259G>C (p.Arg420Thr) rs767075719
NM_000277.3(PAH):c.125A>T (p.Lys42Ile) rs62635346
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr) rs199475696
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser) rs199475696
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1282del (p.Gln428fs) rs2136631967
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1289T>C (p.Leu430Pro) rs199475607
NM_000277.3(PAH):c.1293_1294del (p.Lys431fs) rs1555203363
NM_000277.3(PAH):c.1298dup (p.Leu433fs) rs1057516377
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1301C>T (p.Ala434Val) rs199475659
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1306del (p.Ser436fs) rs1874535712
NM_000277.3(PAH):c.1314_1315+4del rs1334974448
NM_000277.3(PAH):c.1315+1G>T rs5030861
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1316-1G>C
NM_000277.3(PAH):c.1318G>T (p.Glu440Ter) rs1874485021
NM_000277.3(PAH):c.1334del (p.Cys445fs)
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.136G>C (p.Gly46Arg) rs74603784
NM_000277.3(PAH):c.148A>T (p.Lys50Ter)
NM_000277.3(PAH):c.155T>C (p.Leu52Ser) rs199475630
NM_000277.3(PAH):c.157C>A (p.Arg53Ser) rs199475619
NM_000277.3(PAH):c.163_165del (p.Phe55del) rs199475631
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+1G>T rs62514898
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) rs140945592
NM_000277.3(PAH):c.182A>G (p.Asn61Ser) rs2136702181
NM_000277.3(PAH):c.183C>A (p.Asn61Lys) rs199475634
NM_000277.3(PAH):c.185T>C (p.Leu62Pro) rs1877437661
NM_000277.3(PAH):c.194T>A (p.Ile65Asn) rs75193786
NM_000277.3(PAH):c.196G>A (p.Glu66Lys) rs281865454
NM_000277.3(PAH):c.196G>T (p.Glu66Ter) rs281865454
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) rs5030842
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
NM_000277.3(PAH):c.205C>T (p.Pro69Ser) rs199475678
NM_000277.3(PAH):c.208T>C (p.Ser70Pro) rs63048261
NM_000277.3(PAH):c.209C>T (p.Ser70Phe) rs1877434368
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
NM_000277.3(PAH):c.212G>C (p.Arg71Pro) rs62508695
NM_000277.3(PAH):c.223G>C (p.Asp75His) rs767453024
NM_000277.3(PAH):c.224A>G (p.Asp75Gly) rs1565866547
NM_000277.3(PAH):c.224A>T (p.Asp75Val) rs1565866547
NM_000277.3(PAH):c.226G>T (p.Glu76Ter) rs762949770
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.232G>A (p.Glu78Lys) rs62507326
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.256del (p.Arg86fs)
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) rs281865432
NM_000277.3(PAH):c.292T>G (p.Leu98Val) rs1592978725
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.305T>C (p.Ile102Thr) rs62508591
NM_000277.3(PAH):c.311C>T (p.Ala104Val)
NM_000277.3(PAH):c.320A>C (p.His107Pro) rs542645236
NM_000277.3(PAH):c.329C>T (p.Ser110Leu) rs199475627
NM_000277.3(PAH):c.329del (p.Ser110fs) rs1057516389
NM_000277.3(PAH):c.337A>T (p.Lys113Ter)
NM_000277.3(PAH):c.350_351del (p.Thr117fs)
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.352+1G>A rs199475684
NM_000277.3(PAH):c.352+2dup rs1057516604
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.364C>T (p.Pro122Ser) rs1466564208
NM_000277.3(PAH):c.365_366delinsT (p.Pro122fs)
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.3G>C (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.440del (p.Pro147fs)
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.441+6T>C rs199475698
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.443G>A (p.Gly148Asp) rs1555205655
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.460T>C (p.Tyr154His) rs199475587
NM_000277.3(PAH):c.461A>G (p.Tyr154Cys) rs1565853526
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe) rs1565853526
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter) rs1191473722
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.467C>G (p.Ala156Gly) rs570748767
NM_000277.3(PAH):c.467C>T (p.Ala156Val) rs570748767
NM_000277.3(PAH):c.467del (p.Ala156fs)
NM_000277.3(PAH):c.470G>T (p.Arg157Ile) rs199475611
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.494C>A (p.Ala165Asp) rs1592961381
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) rs281865455
NM_000277.3(PAH):c.506G>C (p.Arg169Pro) rs199475679
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.512G>C (p.Gly171Ala) rs199475596
NM_000277.3(PAH):c.515A>G (p.Gln172Arg)
NM_000277.3(PAH):c.516G>C (p.Gln172His) rs192592111
NM_000277.3(PAH):c.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.535T>C (p.Tyr179His) rs199475671
NM_000277.3(PAH):c.535_536del (p.Tyr179fs)
NM_000277.3(PAH):c.540GGA[1] (p.Glu183del) rs1875372846
NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu) rs281865433
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.562G>A (p.Gly188Ser) rs2136649680
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) rs199475689
NM_000277.3(PAH):c.563G>T (p.Gly188Val) rs199475689
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) rs281865442
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.60+1G>C rs1555209932
NM_000277.3(PAH):c.60+4A>T rs1592991145
NM_000277.3(PAH):c.60+5G>A rs62514895
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.603T>G (p.His201Gln) rs751977644
NM_000277.3(PAH):c.604G>A (p.Ala202Thr)
NM_000277.3(PAH):c.605C>T (p.Ala202Val) rs2136649533
NM_000277.3(PAH):c.608G>A (p.Cys203Tyr) rs62507271
NM_000277.3(PAH):c.609C>G (p.Cys203Trp) rs1801147
NM_000277.3(PAH):c.610dup (p.Tyr204fs) rs1555204711
NM_000277.3(PAH):c.613G>A (p.Glu205Lys) rs63083560
NM_000277.3(PAH):c.614A>G (p.Glu205Gly) rs62508593
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.618_625del (p.Asn207fs)
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.640G>T (p.Glu214Ter)
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.649T>G (p.Cys217Gly) rs62508718
NM_000277.3(PAH):c.650G>T (p.Cys217Phe)
NM_000277.3(PAH):c.659A>C (p.His220Pro) rs1592954413
NM_000277.3(PAH):c.662A>G (p.Glu221Gly) rs62514934
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.665A>T (p.Asp222Val) rs62507319
NM_000277.3(PAH):c.666T>G (p.Asp222Glu) rs1263259211
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.673C>G (p.Pro225Ala) rs199475589
NM_000277.3(PAH):c.674C>T (p.Pro225Leu) rs62517204
NM_000277.3(PAH):c.676C>A (p.Gln226Lys) rs62508696
NM_000277.3(PAH):c.676C>T (p.Gln226Ter) rs62508696
NM_000277.3(PAH):c.676del (p.Gln226fs)
NM_000277.3(PAH):c.679C>G (p.Leu227Val) rs2136649242
NM_000277.3(PAH):c.680T>A (p.Leu227Gln) rs2136649239
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.689T>C (p.Val230Ala) rs199475673
NM_000277.3(PAH):c.693_694del (p.Gln232fs)
NM_000277.3(PAH):c.693del (p.Gln232fs)
NM_000277.3(PAH):c.694C>G (p.Gln232Glu) rs62507348
NM_000277.3(PAH):c.706+368T>C rs2136648640
NM_000277.3(PAH):c.706+531T>C
NM_000277.3(PAH):c.706+608A>C
NM_000277.3(PAH):c.707-12_711del rs1555204492
NM_000277.3(PAH):c.712A>G (p.Thr238Ala) rs199475577
NM_000277.3(PAH):c.716G>C (p.Gly239Ala) rs62507283
NM_000277.3(PAH):c.719T>C (p.Phe240Ser) rs62508594
NM_000277.3(PAH):c.721C>A (p.Arg241Ser) rs76687508
NM_000277.3(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe) rs199475578
NM_000277.3(PAH):c.728G>T (p.Arg243Leu) rs62508588
NM_000277.3(PAH):c.72T>A (p.Tyr24Ter)
NM_000277.3(PAH):c.730C>T (p.Pro244Ser) rs2136646392
NM_000277.3(PAH):c.731C>T (p.Pro244Leu) rs118203923
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.739G>A (p.Gly247Ser) rs62508731
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.740G>A (p.Gly247Asp) rs199475579
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.746T>A (p.Leu249His) rs62507338
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.755G>C (p.Arg252Pro) rs62644503
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.773T>C (p.Leu258Pro) rs1565846899
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.785T>G (p.Val262Gly) rs281865445
NM_000277.3(PAH):c.789C>A (p.Phe263Leu) rs62642944
NM_000277.3(PAH):c.790del (p.His264fs) rs1057517009
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr) rs62507335
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
NM_000277.3(PAH):c.797C>T (p.Thr266Ile)
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.801G>C (p.Gln267His) rs199475675
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys) rs1565846805
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.805A>G (p.Ile269Val) rs62508692
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000277.3(PAH):c.812A>G (p.His271Arg) rs199475692
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.813T>G (p.His271Gln) rs1565846764
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.824C>T (p.Pro275Leu) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.827T>A (p.Met276Lys) rs62508722
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
NM_000277.3(PAH):c.827T>G (p.Met276Arg) rs62508722
NM_000277.3(PAH):c.830_831insC (p.Thr278fs) rs2136646052
NM_000277.3(PAH):c.832A>G (p.Thr278Ala) rs62516156
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.833C>G (p.Thr278Ser) rs62507262
NM_000277.3(PAH):c.835_836delinsTG (p.Pro279Cys) rs2136646020
NM_000277.3(PAH):c.836C>T (p.Pro279Leu) rs796064503
NM_000277.3(PAH):c.837del (p.Glu280fs) rs281865429
NM_000277.3(PAH):c.838G>C (p.Glu280Gln) rs62508698
NM_000277.3(PAH):c.841C>G (p.Pro281Ala) rs199475654
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000277.3(PAH):c.842C>A (p.Pro281His) rs5030851
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.845A>G (p.Asp282Gly) rs199475660
NM_000277.3(PAH):c.847A>G (p.Ile283Val) rs62517168
NM_000277.3(PAH):c.850T>C (p.Cys284Arg) rs199475682
NM_000277.3(PAH):c.868C>T (p.His290Tyr) rs1486763160
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.878del (p.Leu293fs)
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.890G>T (p.Arg297Leu) rs62642939
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.899C>G (p.Ala300Gly)
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.903G>T (p.Gln301His) rs1592952179
NM_000277.3(PAH):c.907T>C (p.Ser303Pro) rs199475608
NM_000277.3(PAH):c.907T>G (p.Ser303Ala) rs199475608
NM_000277.3(PAH):c.910C>A (p.Gln304Lys) rs1555204295
NM_000277.3(PAH):c.910C>T (p.Gln304Ter) rs1555204295
NM_000277.3(PAH):c.911A>G (p.Gln304Arg) rs199475592
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-2A>C rs1555203951
NM_000277.3(PAH):c.913-3C>G rs281865451
NM_000277.3(PAH):c.913-8A>G rs281865452
NM_000277.3(PAH):c.914_1199+1del
NM_000277.3(PAH):c.916del (p.Ile306fs) rs281865456
NM_000277.3(PAH):c.920G>A (p.Gly307Asp) rs2136639683
NM_000277.3(PAH):c.920G>T (p.Gly307Val)
NM_000277.3(PAH):c.925G>A (p.Ala309Thr) rs1205657950
NM_000277.3(PAH):c.926C>A (p.Ala309Asp) rs62642935
NM_000277.3(PAH):c.929C>G (p.Ser310Cys)
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000277.3(PAH):c.934G>T (p.Gly312Cys) rs763115697
NM_000277.3(PAH):c.935G>A (p.Gly312Asp) rs62642915
NM_000277.3(PAH):c.938C>A (p.Ala313Glu) rs62642914
NM_000277.3(PAH):c.946G>T (p.Glu316Ter)
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000277.3(PAH):c.970-1G>C rs202183605
NM_000277.3(PAH):c.970-1G>T rs202183605
NM_000277.3(PAH):c.970-2A>C rs62517199
NM_000277.3(PAH):c.970-2A>G rs62517199
NM_000277.3(PAH):c.973_976del (p.Tyr325fs)
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.990G>C (p.Glu330Asp) rs62508580
NM_000277.3(PAH):c.992T>C (p.Phe331Ser) rs199475614
NM_000277.3(PAH):c.992T>G (p.Phe331Cys) rs199475614
NM_000277.3(PAH):c.994G>A (p.Gly332Arg)
NM_000281.4(PCBD1):c.117_121del (p.His39fs)
NM_000281.4(PCBD1):c.3+1G>T
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.126+2T>A rs1555549902
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.190_194del (p.Thr64fs) rs1214971073
NM_000286.3(PEX12):c.1_2del (p.Met1fs) rs1555549923
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.329dup (p.Gln111fs)
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.363del (p.Leu122fs)
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.511del (p.Glu171fs) rs945104524
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.687_690del (p.Ser229fs) rs1555549769
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)
NM_000286.3(PEX12):c.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) rs2142228928
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.969_970del (p.Phe324fs) rs2072781707
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1046+1G>T
NM_000287.4(PEX6):c.1094del (p.Val365fs)
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
NM_000287.4(PEX6):c.1234-2A>G rs2114247797
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1367+1G>A rs1769988075
NM_000287.4(PEX6):c.1367+2T>C
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1479+1G>A
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del) rs1770436260
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
NM_000287.4(PEX6):c.1689-1G>A rs267608223
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1884+1G>A
NM_000287.4(PEX6):c.1885-1G>A
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2095-2A>G
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
NM_000287.4(PEX6):c.2227del (p.His743fs)
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
NM_000287.4(PEX6):c.2361del (p.Val788fs)
NM_000287.4(PEX6):c.2363-2A>C rs1769772582
NM_000287.4(PEX6):c.2363-2A>G
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln) rs2114238521
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2462del (p.Val821fs)
NM_000287.4(PEX6):c.2471+1G>A
NM_000287.4(PEX6):c.2472-1G>A
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter) rs267608243
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
NM_000287.4(PEX6):c.2589-1G>A
NM_000287.4(PEX6):c.2589-1G>T rs2114237186
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247
NM_000287.4(PEX6):c.2666+1G>T rs2114236937
NM_000287.4(PEX6):c.2667-2A>G rs267608249
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.600del (p.Thr201fs)
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
NM_000287.4(PEX6):c.883-2A>G
NM_000287.4(PEX6):c.883-6_887del
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu) rs2150236110
NM_000287.4(PEX6):c.954del (p.Arg319fs)
NM_000288.4(PEX7):c.122_123del (p.Gly41fs)
NM_000288.4(PEX7):c.130+1G>C rs267608253
NM_000288.4(PEX7):c.131-1G>A rs2115129048
NM_000288.4(PEX7):c.131-2A>G rs1554328790
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.188+2del
NM_000288.4(PEX7):c.189-2A>G rs1554328952
NM_000288.4(PEX7):c.206del (p.Gly69fs)
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
NM_000288.4(PEX7):c.233del (p.Asn78fs) rs1582732852
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr) rs61753240
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
NM_000288.4(PEX7):c.297del (p.Ala100fs)
NM_000288.4(PEX7):c.31_56del (p.Met11fs) rs1057516961
NM_000288.4(PEX7):c.323_324del (p.Lys108fs)
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.339+2T>C rs1057517059
NM_000288.4(PEX7):c.340-1G>T rs780751870
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) rs769137963
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.418-1G>A rs773406384
NM_000288.4(PEX7):c.418-1G>C rs773406384
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
NM_000288.4(PEX7):c.46_47del (p.Gly16fs)
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.513del (p.Phe171fs)
NM_000288.4(PEX7):c.527-2A>G rs1057517339
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) rs1582757650
NM_000288.4(PEX7):c.545dup (p.Trp183fs) rs1057516574
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter) rs1057516882
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)
NM_000288.4(PEX7):c.633+1G>A rs1057516989
NM_000288.4(PEX7):c.634-2A>G
NM_000288.4(PEX7):c.638dup (p.Leu213fs)
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.735dup (p.Arg246Ter) rs1582760004
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.747+1G>A
NM_000288.4(PEX7):c.747+2T>A
NM_000288.4(PEX7):c.747del (p.Lys249fs)
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.774_784del (p.Ala259fs) rs1057516824
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.806dup (p.Trp270fs) rs1464766327
NM_000288.4(PEX7):c.817del (p.Ser273fs) rs1554335926
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter) rs1057516737
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer) rs1554335937
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000302.4(PLOD1):c.1097+1G>C
NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs)
NM_000302.4(PLOD1):c.1202+1G>A
NM_000302.4(PLOD1):c.1202+2T>C
NM_000302.4(PLOD1):c.1328+1G>A
NM_000302.4(PLOD1):c.1329-1G>T rs112460511
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.1584+1G>A rs746930362
NM_000302.4(PLOD1):c.1584+1G>T
NM_000302.4(PLOD1):c.1585-2A>G
NM_000302.4(PLOD1):c.168+1G>T
NM_000302.4(PLOD1):c.1756-1_1767dup
NM_000302.4(PLOD1):c.1839_1902+64del rs2100764790
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000302.4(PLOD1):c.1903-2A>T
NM_000302.4(PLOD1):c.1999G>A (p.Ala667Thr)
NM_000302.4(PLOD1):c.254T>C (p.Leu85Pro)
NM_000302.4(PLOD1):c.467-2A>G
NM_000302.4(PLOD1):c.580-2A>G
NM_000302.4(PLOD1):c.644-2A>G
NM_000302.4(PLOD1):c.975+2_975+3insTT
NM_000302.4(PLOD1):c.976-2A>G
NM_000302.4(PLOD1):c.976-2A>T rs1375808651
NM_000317.3(PTS):c.-24_9del rs2135407114
NM_000317.3(PTS):c.108C>A (p.Asn36Lys)
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.163+1G>T rs2135408292
NM_000317.3(PTS):c.164-2A>G rs1555198233
NM_000317.3(PTS):c.164-716A>T rs1859903893
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.174_175del (p.Val59fs) rs2135408968
NM_000317.3(PTS):c.187-2A>G rs2135409169
NM_000317.3(PTS):c.208del (p.Val70fs)
NM_000317.3(PTS):c.227_228del (p.Leu76fs) rs1555198263
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.23_27dup (p.Cys10fs)
NM_000317.3(PTS):c.243+1G>T
NM_000317.3(PTS):c.244-1G>T rs1555198451
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
NM_000317.3(PTS):c.271A>G (p.Lys91Glu)
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.2T>G (p.Met1Arg) rs1859865221
NM_000317.3(PTS):c.314+1G>C rs1555198462
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.337del (p.Tyr113fs) rs1555198494
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_000317.3(PTS):c.351C>A (p.Asn117Lys) rs2135410460
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.407A>G (p.Asp136Gly) rs1859972447
NM_000317.3(PTS):c.407A>T (p.Asp136Val) rs1859972447
NM_000317.3(PTS):c.65C>G (p.Ala22Gly) rs2135407190
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000317.3(PTS):c.74G>A (p.Arg25Gln) rs104894273
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000317.3(PTS):c.83+1G>C
NM_000317.3(PTS):c.84-1G>A
NM_000317.3(PTS):c.84-2A>G
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.188dup (p.Trp65fs)
NM_000318.3(PEX2):c.197_198del (p.Arg66fs)
NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.233dup (p.Ser79fs)
NM_000318.3(PEX2):c.253dup (p.Tyr85fs)
NM_000318.3(PEX2):c.260del (p.Asn87fs)
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.3(PEX2):c.310del (p.Ile104fs)
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.325dup (p.Cys109fs) rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs) rs1174648906
NM_000318.3(PEX2):c.352del (p.Glu118fs)
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.395_396del (p.Phe132fs)
NM_000318.3(PEX2):c.472del (p.Leu158fs) rs1554584487
NM_000318.3(PEX2):c.502_503del (p.Glu168fs) rs1554584474
NM_000318.3(PEX2):c.521_524del (p.His174fs)
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)
NM_000318.3(PEX2):c.791_795del (p.Cys264fs)
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)
NM_000318.3(PEX2):c.834_838del (p.Phe278fs) rs267608188
NM_000320.3(QDPR):c.105+1G>A rs776171302
NM_000320.3(QDPR):c.105+2T>A
NM_000320.3(QDPR):c.105G>C (p.Trp35Cys)
NM_000320.3(QDPR):c.106-1G>C rs1428018512
NM_000320.3(QDPR):c.106T>G (p.Trp36Gly)
NM_000320.3(QDPR):c.265G>C (p.Gly89Arg) rs1184906056
NM_000320.3(QDPR):c.419C>A (p.Ala140Asp)
NM_000320.3(QDPR):c.445G>A (p.Gly149Arg) rs1028029163
NM_000320.3(QDPR):c.445G>C (p.Gly149Arg)
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn) rs2108987681
NM_000320.3(QDPR):c.49G>A (p.Gly17Ser)
NM_000320.3(QDPR):c.515C>T (p.Pro172Leu)
NM_000320.3(QDPR):c.516del (p.Ala175fs)
NM_000320.3(QDPR):c.545C>G (p.Pro182Arg)
NM_000320.3(QDPR):c.546-1G>A rs995264302
NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) rs1571164534
NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys) rs62653012
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
NM_000329.3(RPE65):c.12-1G>C rs1348031618
NM_000329.3(RPE65):c.12-2A>T
NM_000329.3(RPE65):c.1243+1G>A rs1421696563
NM_000329.3(RPE65):c.1243+1G>C
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.1339-1G>C
NM_000329.3(RPE65):c.1339-2A>G
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) rs1645823028
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr) rs1395763356
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) rs2100806889
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) rs774211361
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) rs2100831413
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) rs1557595745
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000329.3(RPE65):c.1451-2A>C rs1557595199
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu) rs1645945582
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg) rs1645945643
NM_000329.3(RPE65):c.202C>T (p.His68Tyr) rs61752866
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
NM_000329.3(RPE65):c.311G>T (p.Gly104Val) rs61752875
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_000329.3(RPE65):c.331C>A (p.Pro111Thr) rs886042220
NM_000329.3(RPE65):c.353+1G>A
NM_000329.3(RPE65):c.354-1G>A rs2100827985
NM_000329.3(RPE65):c.354-1G>T rs2100827985
NM_000329.3(RPE65):c.354-2del rs2100827990
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)
NM_000329.3(RPE65):c.407T>G (p.Val136Gly) rs1645928251
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro) rs767528365
NM_000329.3(RPE65):c.434C>A (p.Ala145Asp)
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
NM_000329.3(RPE65):c.496-1G>A rs2100821984
NM_000329.3(RPE65):c.536C>T (p.Ala179Val) rs1645898265
NM_000329.3(RPE65):c.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.549del (p.Ile183fs)
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) rs1189903735
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter) rs777966849
NM_000329.3(RPE65):c.643+2T>A rs1645896934
NM_000329.3(RPE65):c.644-2A>G
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.725+1G>A rs1260969698
NM_000329.3(RPE65):c.770T>G (p.Val257Gly) rs1645883131
NM_000329.3(RPE65):c.842_843del (p.Glu280_Ser281insTer)
NM_000329.3(RPE65):c.858+1dup
NM_000329.3(RPE65):c.859-1G>A
NM_000329.3(RPE65):c.859-2A>C
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.886del (p.Arg296fs) rs746127684
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286
NM_000329.3(RPE65):c.90delinsGAGCTC (p.Thr31fs)
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter) rs2100818575
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile) rs1645880293
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu) rs1645880232
NM_000329.3(RPE65):c.93A>G (p.Thr31=) rs2100834154
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) rs1571165140
NM_000329.3(RPE65):c.[1067dup];[1543C>T]
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000334.4(SCN4A):c.435C>A (p.Cys145Ter)
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000337.6(SGCD):c.192+1G>A rs1267810339
NM_000337.6(SGCD):c.208_210delinsGT (p.Leu70fs)
NM_000337.6(SGCD):c.294+1G>A rs727503422
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000337.6(SGCD):c.4-1G>C
NM_000337.6(SGCD):c.4-1G>T rs1554094927
NM_000337.6(SGCD):c.502+2T>C
NM_000337.6(SGCD):c.576-1G>C rs2113176852
NM_000337.6(SGCD):c.618del (p.Gly207fs) rs1554137109
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter) rs1175344271
NM_000337.6(SGCD):c.699+1G>T rs1554137130
NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter) rs397517923
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000359.3(TGM1):c.953C>G (p.Pro318Arg) rs2139024935
NM_000360.4(TH):c.1002del (p.His335fs) rs2133692304
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) rs1590166832
NM_000360.4(TH):c.1036C>T (p.Gln346Ter)
NM_000360.4(TH):c.1047+1G>T
NM_000360.4(TH):c.1048-2A>G rs2133691221
NM_000360.4(TH):c.1066dup (p.Leu356fs)
NM_000360.4(TH):c.1104+1G>A rs1057516819
NM_000360.4(TH):c.1105-1G>A
NM_000360.4(TH):c.1105-1G>T rs2133690469
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000360.4(TH):c.1125del (p.Glu375fs) rs2133690407
NM_000360.4(TH):c.1141C>T (p.Gln381Ter)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) rs1554922593
NM_000360.4(TH):c.1200+2T>C rs2133690169
NM_000360.4(TH):c.1201-1G>A rs2133689319
NM_000360.4(TH):c.1201-2_1201-1delinsCC rs2133689324
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1229G>C (p.Arg410Pro)
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter) rs1554922441
NM_000360.4(TH):c.1267C>T (p.Gln423Ter)
NM_000360.4(TH):c.1273C>T (p.Gln425Ter)
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.1282del (p.Gln428fs) rs1554922434
NM_000360.4(TH):c.1287_1290del (p.Val430fs)
NM_000360.4(TH):c.12_43del (p.Asp5fs) rs1554924357
NM_000360.4(TH):c.12dup (p.Asp5fs) rs1057516716
NM_000360.4(TH):c.1357C>T (p.Arg453Cys) rs755922032
NM_000360.4(TH):c.1420del (p.Ala474fs)
NM_000360.4(TH):c.192del (p.Asp66fs)
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.278_296dup (p.Val100fs) rs1554923810
NM_000360.4(TH):c.291_292del (p.Arg98fs)
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly) rs1590170978
NM_000360.4(TH):c.312+1G>A rs1554923802
NM_000360.4(TH):c.328del (p.Ile110fs)
NM_000360.4(TH):c.354_370del (p.Gln119fs)
NM_000360.4(TH):c.392_395dup (p.Leu134fs)
NM_000360.4(TH):c.407T>A (p.Val136Glu) rs1590169802
NM_000360.4(TH):c.469delinsCTCACCCTTGG (p.Ser157fs)
NM_000360.4(TH):c.487+1G>A rs1554923513
NM_000360.4(TH):c.487+1G>C rs1554923513
NM_000360.4(TH):c.487+2T>C rs1057517003
NM_000360.4(TH):c.488-1G>A rs1285458218
NM_000360.4(TH):c.488-1G>T rs1285458218
NM_000360.4(TH):c.51del (p.Val18fs)
NM_000360.4(TH):c.523A>T (p.Lys175Ter)
NM_000360.4(TH):c.531_541del (p.His178fs)
NM_000360.4(TH):c.548dup (p.Asp184fs)
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
NM_000360.4(TH):c.576+2T>G rs2133696288
NM_000360.4(TH):c.577-2A>G
NM_000360.4(TH):c.577-2A>T
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.634C>T (p.Gln212Ter)
NM_000360.4(TH):c.644+2T>A rs1554923317
NM_000360.4(TH):c.644_644+15del rs1554923305
NM_000360.4(TH):c.645-2A>G rs1590168368
NM_000360.4(TH):c.695+1G>C
NM_000360.4(TH):c.696-1G>A
NM_000360.4(TH):c.696-2A>G rs1554923121
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_000360.4(TH):c.717del (p.Lys240fs) rs1057516712
NM_000360.4(TH):c.748del (p.Glu250fs)
NM_000360.4(TH):c.779del (p.Arg260fs)
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.792C>G (p.Tyr264Ter)
NM_000360.4(TH):c.811C>T (p.Gln271Ter)
NM_000360.4(TH):c.815T>G (p.Leu272Arg) rs775410637
NM_000360.4(TH):c.820_823del (p.Asp274fs)
NM_000360.4(TH):c.827C>A (p.Ser276Tyr)
NM_000360.4(TH):c.835dup (p.Leu279fs)
NM_000360.4(TH):c.839_840insCC (p.Lys280fs)
NM_000360.4(TH):c.841+1G>A
NM_000360.4(TH):c.841+1G>T rs2133693369
NM_000360.4(TH):c.845dup (p.Thr283fs) rs1554923004
NM_000360.4(TH):c.889C>T (p.Arg297Trp)
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+14T>A
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.91-860G>T
NM_000360.4(TH):c.91-9_107del rs1057516874
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.921del (p.Phe308fs) rs1057516491
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000360.4(TH):c.977+1G>A rs1057516736
NM_000360.4(TH):c.977+1del
NM_000360.4(TH):c.978-1G>A
NM_000360.4(TH):c.978-1_1019del
NM_000360.4(TH):c.978-2A>G
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000360.4(TH):c.997del (p.Leu333fs) rs1057517162
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) rs1008240677
NM_000370.3(TTPA):c.148delinsATG (p.Ser50fs)
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) rs982650476
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp) rs1805742556
NM_000370.3(TTPA):c.182del (p.Phe61fs) rs1805742175
NM_000370.3(TTPA):c.19C>T (p.Gln7Ter) rs1351036862
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000370.3(TTPA):c.1A>T (p.Met1Leu) rs1408863841
NM_000370.3(TTPA):c.204+1G>T
NM_000370.3(TTPA):c.214_215delinsC (p.Asn72fs)
NM_000370.3(TTPA):c.223A>T (p.Lys75Ter)
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) rs1554524061
NM_000370.3(TTPA):c.2T>A (p.Met1Lys) rs786204758
NM_000370.3(TTPA):c.302_309del (p.His101fs)
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) rs1057516423
NM_000370.3(TTPA):c.339del (p.Val114fs) rs1563363293
NM_000370.3(TTPA):c.358+2T>C
NM_000370.3(TTPA):c.358+2T>G
NM_000370.3(TTPA):c.381dup (p.Thr128fs)
NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)
NM_000370.3(TTPA):c.441del (p.Glu148fs) rs1057517448
NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs)
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.489del (p.Trp163fs)
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter) rs1554605498
NM_000370.3(TTPA):c.588del (p.Leu196_Ile197insTer)
NM_000370.3(TTPA):c.74del (p.Gln25fs)
NM_000370.3(TTPA):c.80del (p.Gly27fs)
NM_000370.3(TTPA):c.83_105del (p.Leu28fs) rs1554525128
NM_000370.3(TTPA):c.84_91dup (p.Leu31fs) rs1805745954
NM_000370.3(TTPA):c.88_118del (p.Ala30fs) rs1554525125
NM_000372.4(TYR):c.[1276_1282delATGGTTC];[139G>A]
NM_000372.5(TYR):c.101A>C (p.Glu34Ala) rs1555083355
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1039T>C (p.Phe347Leu) rs2135281765
NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs)
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1109T>A (p.Met370Lys)
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg) rs1590902150
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1493del (p.Leu498fs) rs763648121
NM_000372.5(TYR):c.157G>T (p.Gly53Cys) rs1591133731
NM_000372.5(TYR):c.240G>C (p.Trp80Cys)
NM_000372.5(TYR):c.259A>G (p.Arg87Gly)
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.452T>G (p.Ile151Ser) rs747095957
NM_000372.5(TYR):c.529G>C (p.Val177Leu) rs138487695
NM_000372.5(TYR):c.580del (p.Ile194fs) rs797046132
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000372.5(TYR):c.757G>A (p.Gly253Arg) rs61754369
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_000372.5(TYR):c.97A>G (p.Lys33Glu)
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415
NM_000372.5(TYR):c.[1205G>A;575C>A]
NM_000382.2(ALDH3A2):c.154_155delAG rs1428029642
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)
NM_000382.3(ALDH3A2):c.1023_1026del (p.Val342fs)
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
NM_000382.3(ALDH3A2):c.1096del (p.His366fs)
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
NM_000382.3(ALDH3A2):c.1108-1G>A
NM_000382.3(ALDH3A2):c.1108-1G>T rs1036733598
NM_000382.3(ALDH3A2):c.1108-2A>G
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)
NM_000382.3(ALDH3A2):c.1207+1G>A
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
NM_000382.3(ALDH3A2):c.1444-1G>T
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs) rs1057517403
NM_000382.3(ALDH3A2):c.153+2T>G
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
NM_000382.3(ALDH3A2):c.253_254del (p.Lys85fs)
NM_000382.3(ALDH3A2):c.257_259delinsCACTCAGC (p.Lys86fs)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer) rs2152326510
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
NM_000382.3(ALDH3A2):c.420_426del (p.Ser140fs)
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)
NM_000382.3(ALDH3A2):c.471+1del rs786204741
NM_000382.3(ALDH3A2):c.471+2T>G
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.522_523del (p.Lys175fs)
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) rs772967175
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)
NM_000382.3(ALDH3A2):c.653_654del (p.Lys218fs)
NM_000382.3(ALDH3A2):c.680+1G>A
NM_000382.3(ALDH3A2):c.681-14T>A
NM_000382.3(ALDH3A2):c.681-1G>A
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr) rs72547567
NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter) rs2152325575
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) rs1555533754
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)
NM_000382.3(ALDH3A2):c.798+1G>A
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs) rs1057516788
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer) rs779956047
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) rs2123286013
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)
NM_000400.4(ERCC2):c.1024del (p.Trp342fs)
NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)
NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)
NM_000400.4(ERCC2):c.1299_1303del (p.His434fs)
NM_000400.4(ERCC2):c.1307+1G>A
NM_000400.4(ERCC2):c.1347_1377+7del
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.136dup (p.Thr46fs)
NM_000400.4(ERCC2):c.1377+1dup
NM_000400.4(ERCC2):c.1479+2T>C
NM_000400.4(ERCC2):c.1480-1G>C
NM_000400.4(ERCC2):c.1543+2_1543+33inv
NM_000400.4(ERCC2):c.1544-1G>T
NM_000400.4(ERCC2):c.1607_1613dup (p.Phe539fs)
NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)
NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)
NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter) rs2123229548
NM_000400.4(ERCC2):c.1732_1741del (p.Ser578fs)
NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)
NM_000400.4(ERCC2):c.1759-2A>C
NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)
NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)
NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)
NM_000400.4(ERCC2):c.1832-1G>T
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
NM_000400.4(ERCC2):c.1865del (p.Gly622fs)
NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)
NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)
NM_000400.4(ERCC2):c.2046+1G>T rs774768228
NM_000400.4(ERCC2):c.2047-13_2048del rs1327017125
NM_000400.4(ERCC2):c.2047-2A>C
NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter) rs1555775416
NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)
NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)
NM_000400.4(ERCC2):c.2190+1G>T
NM_000400.4(ERCC2):c.2191-2A>G
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.28_58dup (p.Glu20fs)
NM_000400.4(ERCC2):c.326_344del (p.Leu109fs)
NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)
NM_000400.4(ERCC2):c.478-2A>G
NM_000400.4(ERCC2):c.5+2T>A rs1599753508
NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)
NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)
NM_000400.4(ERCC2):c.815+1G>A
NM_000400.4(ERCC2):c.956dup (p.Pro320fs)
NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe) rs1198548214
NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
NM_000414.4(HSD17B4):c.1261+1G>T
NM_000414.4(HSD17B4):c.1262-1G>A rs2126806430
NM_000414.4(HSD17B4):c.1262-1G>C
NM_000414.4(HSD17B4):c.1262-2A>G rs1751692890
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
NM_000414.4(HSD17B4):c.1333+1G>A
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1438-1G>A rs1554067009
NM_000414.4(HSD17B4):c.1438-1G>C
NM_000414.4(HSD17B4):c.1438-2A>C rs1057516273
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
NM_000414.4(HSD17B4):c.1503+1G>A
NM_000414.4(HSD17B4):c.1504-1G>A
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1573+1G>T
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=) rs142527052
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu) rs1488399880
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)
NM_000414.4(HSD17B4):c.281-2A>G rs1554062343
NM_000414.4(HSD17B4):c.290del (p.Val97fs)
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp) rs1561442127
NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.350-1G>T
NM_000414.4(HSD17B4):c.358del (p.His120fs)
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) rs786205574
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) rs1085307072
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His) rs2126702600
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
NM_000414.4(HSD17B4):c.59-1G>A
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) rs2126740316
NM_000414.4(HSD17B4):c.714+1G>C
NM_000414.4(HSD17B4):c.715-1G>A
NM_000414.4(HSD17B4):c.739+1G>A rs1561456373
NM_000414.4(HSD17B4):c.739+1G>T
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter) rs1778991422
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter) rs1436470033
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter) rs1779703136
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter) rs1780700010
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter) rs1781455687
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter) rs1781592001
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter) rs1781606569
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter) rs1786068382
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter) rs1786068836
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter) rs1231305572
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter) rs1786301728
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter) rs1042843028
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter) rs1786309995
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter) rs1787059737
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter) rs1787862380
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter) rs1789386860
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter) rs897845923
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) rs1789395190
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter) rs1789398455
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter) rs1789399141
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter) rs1789399872
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
NM_000426.4(LAMA2):c.2877_2878dup (p.Ser960fs)
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
NM_000426.4(LAMA2):c.2906G>A (p.Cys969Tyr) rs2114451064
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter) rs1773282962
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter) rs1773283278
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter) rs1187391940
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter) rs1773502803
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter) rs944013929
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) rs1774323015
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) rs1774465781
NM_000426.4(LAMA2):c.3626del (p.Gly1209fs)
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) rs1774541313
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter) rs1774908660
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter) rs1774908820
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter) rs1775300950
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter) rs1776319116
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter) rs1776730034
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter) rs1776953529
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter) rs1776953853
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter) rs917205971
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter) rs1247084547
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter) rs373997222
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter) rs1778794887
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) rs1008335405
NM_000426.4(LAMA2):c.5062del (p.Asp1688fs)
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter) rs1779318396
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter) rs1779323338
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
NM_000426.4(LAMA2):c.5235-1G>A rs1779406142
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter) rs1165626901
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter) rs1462522184
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter) rs1775311864
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter) rs1781398399
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) rs1775313883
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter) rs1782086229
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) rs1782333085
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter) rs1775315900
NM_000426.4(LAMA2):c.639+1del
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter) rs1782761474
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter) rs1583790201
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter) rs1778273068
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter) rs1783482812
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter) rs1377818460
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.7521dup (p.Ile2508fs) rs1583845651
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) rs781316719
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter) rs1778283565
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter) rs1784882494
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) rs1784888496
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
NM_000426.4(LAMA2):c.8312dup (p.Asn2771fs)
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1002-2A>G
NM_000441.2(SLC26A4):c.1002-4C>G rs2129315781
NM_000441.2(SLC26A4):c.1002del
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val) rs111033212
NM_000441.2(SLC26A4):c.1015del (p.Glu339fs)
NM_000441.2(SLC26A4):c.103_104delinsGCTGCT (p.Gln35fs)
NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1150-1G>T rs1791525285
NM_000441.2(SLC26A4):c.1154dup (p.Ile386fs)
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg) rs1057517042
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1191del (p.Phe398fs)
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs) rs886043058
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)
NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys) rs111033220
NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)
NM_000441.2(SLC26A4):c.1238del (p.Gln413fs) rs1057516354
NM_000441.2(SLC26A4):c.1252G>T (p.Gly418Ter)
NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1264-3C>G rs1562835391
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp) rs1791675770
NM_000441.2(SLC26A4):c.1280C>A (p.Ser427Tyr) rs765939287
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs) rs1584292992
NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro) rs2129316904
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1342-1G>T rs1057517298
NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp) rs747076316
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs) rs1791686622
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1375A>T (p.Lys459Ter)
NM_000441.2(SLC26A4):c.1377del (p.Met461fs)
NM_000441.2(SLC26A4):c.1411_1414del (p.Leu471fs)
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1438-2A>G rs1057516717
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)
NM_000441.2(SLC26A4):c.1490del (p.Gly497fs)
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1539_1544+6del rs1057516535
NM_000441.2(SLC26A4):c.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) rs1562817529
NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly) rs2129317522
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr) rs786204739
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.1614+1del
NM_000441.2(SLC26A4):c.1615-1G>T
NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)
NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>A rs397516420
NM_000441.2(SLC26A4):c.165-2A>G rs786204458
NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg) rs2129317902
NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser) rs2129317904
NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1707+4_1707+7del
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1708-27_1708-11del rs1554360816
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His)
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)
NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly)
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter)
NM_000441.2(SLC26A4):c.1790T>A (p.Leu597Ter)
NM_000441.2(SLC26A4):c.1802del (p.Lys601fs)
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)
NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter) rs786204502
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs) rs1584337134
NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp) rs1057517161
NM_000441.2(SLC26A4):c.1966del (p.His656fs) rs1057516636
NM_000441.2(SLC26A4):c.196A>T (p.Lys66Ter)
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs) rs2129318299
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2034+1G>A rs759683649
NM_000441.2(SLC26A4):c.2035-2A>C
NM_000441.2(SLC26A4):c.2035-2A>G
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
NM_000441.2(SLC26A4):c.2062_2071del (p.Val688fs)
NM_000441.2(SLC26A4):c.2067del (p.Asn689fs) rs1057516796
NM_000441.2(SLC26A4):c.2069T>A (p.Val690Glu) rs2129318790
NM_000441.2(SLC26A4):c.2089+1G>T
NM_000441.2(SLC26A4):c.2089+2T>A rs1554361624
NM_000441.2(SLC26A4):c.208C>T (p.Pro70Ser)
NM_000441.2(SLC26A4):c.2109_2110del (p.Glu704fs)
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys) rs121908363
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs) rs1298217152
NM_000441.2(SLC26A4):c.2184_2187del (p.Leu729fs)
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
NM_000441.2(SLC26A4):c.2235+2T>C rs1554362815
NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu) rs1345175795
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.255del (p.Ser86fs)
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.338del (p.Val113fs)
NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr) rs1790889845
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp) rs1790890770
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.42del (p.Glu15fs) rs1562817224
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) rs1554354787
NM_000441.2(SLC26A4):c.454del (p.Val152fs) rs1554354801
NM_000441.2(SLC26A4):c.460_461del (p.Ser154fs)
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
NM_000441.2(SLC26A4):c.555_556del (p.Arg185fs)
NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro)
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter) rs2129311933
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter) rs1057516678
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu) rs1349370504
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs) rs750365180
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000441.2(SLC26A4):c.765+3A>C rs483353048
NM_000441.2(SLC26A4):c.765+3A>T rs483353048
NM_000441.2(SLC26A4):c.765_765+3del rs756076960
NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs)
NM_000441.2(SLC26A4):c.839del (p.Val280fs)
NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer) rs1057517246
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp) rs1554352240
NM_000441.2(SLC26A4):c.882_883del (p.His294fs) rs2129314494
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.915del (p.Ile305fs)
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.919-19_932del rs1554357206
NM_000441.2(SLC26A4):c.[2168A>G;2326C>G]
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs) rs1057517488
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer) rs1057517520
NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)
NM_000466.3(PEX1):c.1239+1G>A rs756876301
NM_000466.3(PEX1):c.129+1G>A rs2116298327
NM_000466.3(PEX1):c.130-1G>C rs1028247729
NM_000466.3(PEX1):c.130-2A>T rs1585260993
NM_000466.3(PEX1):c.1321del (p.Ile441fs)
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter) rs1585248089
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1359+1G>C
NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)
NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter) rs1554373801
NM_000466.3(PEX1):c.1439del (p.Leu480fs) rs1554373787
NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)
NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1527del (p.Glu510fs) rs1057517497
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1533del (p.Asp512fs) rs2116205361
NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+1G>T
NM_000466.3(PEX1):c.1587+2T>C rs1554373578
NM_000466.3(PEX1):c.1611del (p.Glu538fs)
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.175_176del (p.Ser59fs)
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)
NM_000466.3(PEX1):c.1793_1803+1del rs2116180739
NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)
NM_000466.3(PEX1):c.1815dup (p.Ser606fs)
NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)
NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1890del (p.Ala631fs) rs2116175944
NM_000466.3(PEX1):c.1895del (p.Leu632fs)
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1900+1G>A rs770447891
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1901-1G>T
NM_000466.3(PEX1):c.1901-2A>G
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs) rs1057517529
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs) rs1057517486
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2072-1G>A
NM_000466.3(PEX1):c.2072-42_2085del rs1792018845
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs) rs1057517499
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)
NM_000466.3(PEX1):c.2227-1G>C
NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)
NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2417-1G>T
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) rs1306607552
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs) rs1793076195
NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2718+1G>A
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.2723del (p.Pro908fs) rs1057517503
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.273+2T>G
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2770dup (p.Asp924fs)
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2784-1G>C
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs) rs2116095487
NM_000466.3(PEX1):c.2849dup (p.His951fs)
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
NM_000466.3(PEX1):c.3031-1G>A
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3207+1G>C rs267608181
NM_000466.3(PEX1):c.3207+2C>A rs1554368097
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs) rs1057517509
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer) rs1554367358
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
NM_000466.3(PEX1):c.3438+1G>A rs1554367284
NM_000466.3(PEX1):c.3438+1G>T rs1554367284
NM_000466.3(PEX1):c.3439-2A>G
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs) rs759183382
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.3(PEX1):c.357+1G>A rs866144313
NM_000466.3(PEX1):c.357+1G>C rs866144313
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.357+202_1170del
NM_000466.3(PEX1):c.3573del (p.Glu1191fs) rs1585211048
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.358-2A>G rs1057517500
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs) rs1160117945
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3626del (p.Ser1209fs) rs1554366766
NM_000466.3(PEX1):c.3637-1G>A
NM_000466.3(PEX1):c.3637-3_3637-1del rs2116039871
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.431dup (p.Val145fs) rs1057517506
NM_000466.3(PEX1):c.472+1G>A rs762852144
NM_000466.3(PEX1):c.473-1G>A rs1554375661
NM_000466.3(PEX1):c.473-1G>C rs1554375661
NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)
NM_000466.3(PEX1):c.496del (p.Tyr166fs)
NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)
NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)
NM_000466.3(PEX1):c.532_533del (p.Gln178fs)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.573del (p.Ala192fs) rs1585255490
NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)
NM_000466.3(PEX1):c.66dup (p.Asn23fs)
NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)
NM_000466.3(PEX1):c.734del (p.Leu245fs) rs1057517522
NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)
NM_000466.3(PEX1):c.760dup (p.Ser254fs) rs1554375511
NM_000466.3(PEX1):c.805_806del (p.Glu269fs)
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer) rs1057517505
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs) rs1554391033
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys) rs75053309
NM_000492.4(CFTR):c.1116G>T (p.Gln372His) rs1584789514
NM_000492.4(CFTR):c.1117-2A>G rs1554381596
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)
NM_000492.4(CFTR):c.1171_1209+6del
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1209+2T>A
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)
NM_000492.4(CFTR):c.1210-1G>C rs397508178
NM_000492.4(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1244del (p.Asn415fs)
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs) rs749854099
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe) rs397508195
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1368del (p.Ala457fs)
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu) rs1799216615
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr) rs1584793633
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.4(CFTR):c.1415dup (p.Met472fs) rs1554384343
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter) rs1799418948
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1472_1482del (p.Cys491fs)
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter) rs200626971
NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile) rs1799421850
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser) rs397508222
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg) rs1562898465
NM_000492.4(CFTR):c.1526G>T (p.Gly509Val)
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly) rs397508226
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs) rs1562898489
NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys) rs1562898496
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp) rs1562898510
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1579G>T (p.Glu527Ter)
NM_000492.4(CFTR):c.1584+1G>T rs397508230
NM_000492.4(CFTR):c.1584+2T>C rs397508231
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
NM_000492.4(CFTR):c.1622T>C (p.Leu541Pro)
NM_000492.4(CFTR):c.164+1G>C rs397508243
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2T>A rs121908800
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1652G>T (p.Gly551Val) rs75527207
NM_000492.4(CFTR):c.1652del (p.Gly551fs) rs397508252
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys) rs76554633
NM_000492.4(CFTR):c.1663A>T (p.Arg555Ter)
NM_000492.4(CFTR):c.1672_1673del (p.Leu558fs)
NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680-883A>G rs1554388867
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys)
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter) rs55928397
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
NM_000492.4(CFTR):c.1735G>C (p.Asp579His)
NM_000492.4(CFTR):c.1735_1736del (p.Asp579fs)
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser) rs1562907260
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1766+1G>T rs121908748
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.1766+3A>C rs397508298
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile) rs397508300
NM_000492.4(CFTR):c.1767-1G>A rs1554389241
NM_000492.4(CFTR):c.1767-2A>G
NM_000492.4(CFTR):c.1778_1779del (p.Lys593fs)
NM_000492.4(CFTR):c.179_180del (p.Glu60fs) rs1584776308
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.4(CFTR):c.1801del (p.Ile601fs) rs1792031758
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1822del (p.Glu608fs)
NM_000492.4(CFTR):c.1825C>T (p.His609Tyr) rs2116030305
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter) rs1792033327
NM_000492.4(CFTR):c.1867_1869delinsG (p.Ser623fs)
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1893_1897del (p.Glu632fs)
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs) rs1584812217
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) rs1792036190
NM_000492.4(CFTR):c.1970del (p.Arg657fs) rs2116030992
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter) rs1792036942
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)
NM_000492.4(CFTR):c.2241del (p.Ile748fs)
NM_000492.4(CFTR):c.2283dup (p.Gln762fs)
NM_000492.4(CFTR):c.2379del (p.Val794fs)
NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter) rs984281283
NM_000492.4(CFTR):c.2410G>T (p.Glu804Ter) rs1792049376
NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter) rs1457971953
NM_000492.4(CFTR):c.2429del (p.Arg810fs) rs1057516236
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter) rs1792051187
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys) rs397508378
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2483dup (p.Asp828fs) rs1057517276
NM_000492.4(CFTR):c.2490+827_2620-3551del
NM_000492.4(CFTR):c.2491-2A>C rs397508386
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter) rs1584776437
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2617G>T (p.Glu873Ter) rs1792100143
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter) rs1792246412
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.269T>A (p.Leu90Ter) rs397508421
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2824del (p.Ile942fs)
NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)
NM_000492.4(CFTR):c.2854del (p.Met952fs) rs1057517032
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2891_2892delinsA (p.Leu964fs)
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-2A>T
NM_000492.4(CFTR):c.2916_2952del (p.Ile972fs) rs1554391454
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
NM_000492.4(CFTR):c.2982_2988+2del rs1554391489
NM_000492.4(CFTR):c.2986dup (p.Gln996fs) rs1554391491
NM_000492.4(CFTR):c.2988+1G>C rs75096551
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-2A>T rs193922515
NM_000492.4(CFTR):c.2993del (p.Leu998fs) rs1057516415
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) rs1792366769
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro) rs397508490
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg) rs756219310
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr) rs1584821736
NM_000492.4(CFTR):c.3139+1del rs780546355
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3140-1G>A rs397508506
NM_000492.4(CFTR):c.3168del (p.Thr1057fs)
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro) rs78769542
NM_000492.4(CFTR):c.320C>G (p.Ala107Gly)
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro) rs771259493
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter) rs150020260
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu)
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu) rs1584822486
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.4(CFTR):c.332del (p.Pro111fs) rs2116670123
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3357_3359delinsA (p.Leu1120fs)
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3367+1G>T
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3389_3402del (p.Gly1130fs)
NM_000492.4(CFTR):c.3398_3399del (p.Leu1133fs)
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)
NM_000492.4(CFTR):c.3434G>C (p.Trp1145Ser)
NM_000492.4(CFTR):c.3468+1G>A rs1554392798
NM_000492.4(CFTR):c.3468+1G>T rs1554392798
NM_000492.4(CFTR):c.3469-1G>C
NM_000492.4(CFTR):c.3469-2A>C
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.3469-52_3717+5032dup
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.3493_3494delinsT (p.Lys1165fs)
NM_000492.4(CFTR):c.3495del (p.Lys1165fs) rs1057516970
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter) rs397508578
NM_000492.4(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter) rs1057516609
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.4(CFTR):c.3547A>T (p.Lys1183Ter)
NM_000492.4(CFTR):c.3567dup (p.Val1190fs)
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter) rs121908763
NM_000492.4(CFTR):c.3602del (p.Asp1201fs)
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3661_3662del (p.Glu1221fs)
NM_000492.4(CFTR):c.3682G>T (p.Glu1228Ter) rs759116351
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg) rs193922519
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-24_3873+601del rs1554395323
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3718-5_3725del rs2116166586
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val) rs267606723
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3782_3783del (p.Leu1261fs)
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)
NM_000492.4(CFTR):c.3793G>T (p.Gly1265Ter)
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) rs1584837090
NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val)
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.4(CFTR):c.3836T>A (p.Leu1279Ter)
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter) rs1792935619
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs) rs1057517404
NM_000492.4(CFTR):c.3873+1G>T rs143570767
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3874-2A>C rs1554396384
NM_000492.4(CFTR):c.3874-2A>G rs1554396384
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter) rs1793110279
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
NM_000492.4(CFTR):c.3963+1G>C rs672601314
NM_000492.4(CFTR):c.3963+1G>T
NM_000492.4(CFTR):c.3963+2T>G rs397508650
NM_000492.4(CFTR):c.3964-1_3964delinsTT
NM_000492.4(CFTR):c.396del (p.Ile132fs) rs1798854379
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4007_4010del (p.Asp1336fs)
NM_000492.4(CFTR):c.4023del (p.Asp1341fs)
NM_000492.4(CFTR):c.4032T>A (p.Cys1344Ter)
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4046del (p.Gly1349fs) rs1793342111
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter) rs751098333
NM_000492.4(CFTR):c.405_406dup (p.Leu136fs) rs1554379846
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter) rs397508683
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.4199del (p.Cys1400fs) rs1554397593
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4242+5G>A rs1562929196
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter) rs397508707
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr) rs193922528
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter) rs750559671
NM_000492.4(CFTR):c.42del (p.Lys14fs) rs397508710
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.4312del (p.Arg1438fs)
NM_000492.4(CFTR):c.4329del (p.Ser1444fs) rs1554397769
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer) rs1554397772
NM_000492.4(CFTR):c.4345_*486delinsTTG (p.Phe1450_Ter1481del)
NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter) rs121909043
NM_000492.4(CFTR):c.4389del (p.Ile1464fs) rs1584850283
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa) rs1562929636
NM_000492.4(CFTR):c.4400del (p.Leu1467fs) rs1562929633
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
NM_000492.4(CFTR):c.441_442del (p.Ile148fs)
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.4443G>C (p.Ter1481Tyr)
NM_000492.4(CFTR):c.445G>T (p.Gly149Ter) rs397508718
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.480_483del (p.Tyr161fs)
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.489+43_580-354del
NM_000492.4(CFTR):c.490-1G>C
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.502_503del (p.Ser168fs)
NM_000492.4(CFTR):c.506dup (p.Ser169fs) rs1554380311
NM_000492.4(CFTR):c.520_530del (p.Lys174fs)
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.53+1005T>G
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.534_538del (p.Gln179fs)
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.56G>A (p.Trp19Ter) rs1057516232
NM_000492.4(CFTR):c.574G>T (p.Asp192Tyr)
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.578_579+5del rs397508760
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile) rs397508766
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.4(CFTR):c.657dup (p.Gln220fs) rs1554380465
NM_000492.4(CFTR):c.662del (p.Ala221fs) rs2116676645
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.4(CFTR):c.719T>G (p.Leu240Arg)
NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter) rs1800082
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.742A>T (p.Arg248Ter) rs1554380515
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.743+2T>C rs1584787119
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)
NM_000492.4(CFTR):c.751A>T (p.Arg251Ter) rs1798959540
NM_000492.4(CFTR):c.772del (p.Arg258fs)
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.817A>T (p.Lys273Ter) rs1296578005
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.835G>T (p.Glu279Ter) rs1199914684
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter) rs1057516619
NM_000492.4(CFTR):c.869+1G>C rs1330431481
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.870-1G>C rs1351058559
NM_000492.4(CFTR):c.888_889dup (p.Arg297fs) rs1057516387
NM_000492.4(CFTR):c.915_916del (p.Phe305fs)
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000492.4(CFTR):c.931T>C (p.Phe311Leu) rs2116683801
NM_000492.4(CFTR):c.941G>T (p.Gly314Val) rs75763344
NM_000492.4(CFTR):c.950T>A (p.Val317Glu) rs1204521684
NM_000492.4(CFTR):c.962del (p.Ser321fs)
NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)
NM_000492.4(CFTR):c.[1209+1988_1392+2067inv;1392+2072_1392+2074del]
NM_000492.4:c.(1209+1_1210-1)_(1392+1_1393-1)del
NM_000492.4:c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)del
NM_000492.4:c.(3428+1_3469-1)_(3717+1_3718-1)dup
NM_000492.4:c.(3468+1_3469-1)_(3873+1_3874-1)del
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)delins186
NM_000506.5(F2):c.1070A>G (p.Glu357Gly) rs2134533215
NM_000506.5(F2):c.1094T>A (p.Val365Glu) rs747234596
NM_000506.5(F2):c.1270G>A (p.Val424Met) rs1310397756
NM_000506.5(F2):c.1496G>A (p.Gly499Glu) rs2134537035
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
NM_000506.5(F2):c.422+1G>A
NM_000506.5(F2):c.995G>C (p.Gly332Ala) rs2134532862
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) rs1953591118
NM_000525.4(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) rs1554901829
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.4(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter) rs1564865232
NM_000543.4:c.777_778ins8
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val) rs797044800
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly) rs1242180535
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His) rs1848014133
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro) rs2134017039
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys) rs369088417
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.114del (p.Leu39fs) rs886043098
NM_000543.5(SMPD1):c.1152del (p.Met384fs)
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=) rs1162794351
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp) rs34555120
NM_000543.5(SMPD1):c.1263+1G>A rs2134018090
NM_000543.5(SMPD1):c.1264-1G>A rs1057516454
NM_000543.5(SMPD1):c.1264-1G>C rs1057516454
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn) rs760930408
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu) rs794727629
NM_000543.5(SMPD1):c.1280_1286del (p.His427fs)
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser) rs140688153
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer) rs1057517390
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340+2T>G rs1301641750
NM_000543.5(SMPD1):c.1340+2_1340+9del
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys) rs2134019797
NM_000543.5(SMPD1):c.1341-10_1429dup rs1554935254
NM_000543.5(SMPD1):c.1341-1G>T rs1057516854
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
NM_000543.5(SMPD1):c.1373del (p.Gly458fs) rs1554935273
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr) rs1848060631
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg) rs1848060729
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1379del (p.Thr460fs) rs1554935285
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu) rs1258231226
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu) rs1848061944
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly) rs182812968
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr) rs2134021440
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln) rs753508874
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn) rs2134021618
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
NM_000543.5(SMPD1):c.1486+5G>C
NM_000543.5(SMPD1):c.1487-1G>A rs2134022652
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His) rs1848079553
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter) rs1554935439
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro) rs120074117
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs) rs1057517200
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr) rs764772735
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile) rs752679988
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg) rs1554935555
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter) rs756031857
NM_000543.5(SMPD1):c.1638del (p.Leu547fs) rs2134023610
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs) rs1554935600
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter) rs1554935610
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter) rs1057516722
NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter) rs373940701
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val) rs2134024349
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg) rs1848099174
NM_000543.5(SMPD1):c.1804del (p.Arg602fs) rs1848099900
NM_000543.5(SMPD1):c.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter) rs1057516931
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro) rs1847878243
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.318+2T>A rs1225462507
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.319-2A>G
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer) rs1057517086
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)
NM_000543.5(SMPD1):c.448_449insTAGGAAGCCGTAAA (p.Arg150fs)
NM_000543.5(SMPD1):c.450_453delinsTCTCCTTT (p.Ser151fs)
NM_000543.5(SMPD1):c.451_452del (p.Val152fs)
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg) rs1369175943
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys) rs2134009384
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer) rs1554934210
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
NM_000543.5(SMPD1):c.611T>A (p.Leu204His) rs2134010621
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs) rs1554934309
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn) rs1847921260
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
NM_000543.5(SMPD1):c.634G>C (p.Asp212His) rs772889728
NM_000543.5(SMPD1):c.647del (p.Leu216fs)
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly) rs1847923379
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.722del (p.Pro241fs)
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp) rs1057435197
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) rs120074122
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala) rs2134011288
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp) rs1590739350
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg) rs1423504237
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg) rs1847929817
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter) rs1554934406
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro) rs1847932355
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys) rs1847934777
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu) rs2134011919
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg) rs1847939431
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro) rs1847940504
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val) rs2134012389
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe) rs2134012389
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly) rs2134012580
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser) rs757934797
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr) rs2134012749
NM_000543.5(SMPD1):c.963del (p.His321fs)
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs) rs1057517345
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000553.6(WRN):c.1012_1018del (p.Val338fs) rs2130118911
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) rs1563338855
NM_000553.6(WRN):c.111G>C (p.Lys37Asn)
NM_000553.6(WRN):c.1161_1163delinsAG (p.Met387fs)
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
NM_000553.6(WRN):c.1350+1G>A rs752202315
NM_000553.6(WRN):c.1350+1G>C
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.1351-1_1351delinsTT rs1813480415
NM_000553.6(WRN):c.1351-2A>G rs1563341296
NM_000553.6(WRN):c.1372G>T (p.Glu458Ter)
NM_000553.6(WRN):c.1432-2A>G
NM_000553.6(WRN):c.1432-2A>T rs1389423879
NM_000553.6(WRN):c.1432-2_1433del
NM_000553.6(WRN):c.1519G>T (p.Glu507Ter)
NM_000553.6(WRN):c.1576+1G>A
NM_000553.6(WRN):c.1576+1G>T
NM_000553.6(WRN):c.1576+1dup rs2130157703
NM_000553.6(WRN):c.1577-2A>G
NM_000553.6(WRN):c.15del (p.Lys5fs) rs878854133
NM_000553.6(WRN):c.1653-2A>G rs1434118877
NM_000553.6(WRN):c.1653-2A>T rs1434118877
NM_000553.6(WRN):c.1657C>T (p.Gln553Ter)
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) rs1585440064
NM_000553.6(WRN):c.1689_1695del (p.Arg564fs)
NM_000553.6(WRN):c.1720+1G>T
NM_000553.6(WRN):c.1720+5G>A rs1813707238
NM_000553.6(WRN):c.1721-1G>A
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs)
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter) rs1813725009
NM_000553.6(WRN):c.1829+2T>C
NM_000553.6(WRN):c.1871C>A (p.Ser624Ter)
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.1908C>G (p.Tyr636Ter)
NM_000553.6(WRN):c.1981+1G>A
NM_000553.6(WRN):c.1981+1G>C rs1814007969
NM_000553.6(WRN):c.2017dup (p.Ile673fs)
NM_000553.6(WRN):c.2031_2032del (p.Gly677_His678insTer) rs2130229490
NM_000553.6(WRN):c.2040del (p.Phe680fs)
NM_000553.6(WRN):c.2088+1G>T
NM_000553.6(WRN):c.2089-1G>C rs2130282582
NM_000553.6(WRN):c.2245_2448+1213del
NM_000553.6(WRN):c.2273+1G>A rs2130284894
NM_000553.6(WRN):c.2273+2T>C
NM_000553.6(WRN):c.2290G>T (p.Glu764Ter)
NM_000553.6(WRN):c.229dup (p.Asp77fs) rs747587698
NM_000553.6(WRN):c.230dup (p.Asp77fs)
NM_000553.6(WRN):c.2448+1G>A rs2130306367
NM_000553.6(WRN):c.2448+1_2448+2insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGATGAAATTCAGG rs2130306240
NM_000553.6(WRN):c.2449-2A>C rs1585483030
NM_000553.6(WRN):c.2503del (p.Gln835fs) rs748484883
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter) rs2130322576
NM_000553.6(WRN):c.254_258dup (p.Pro87fs)
NM_000553.6(WRN):c.2624T>G (p.Leu875Ter)
NM_000553.6(WRN):c.2630+1G>A rs1279240593
NM_000553.6(WRN):c.2731C>T (p.Gln911Ter)
NM_000553.6(WRN):c.2732+1G>A rs1047229701
NM_000553.6(WRN):c.2732+1G>C rs1047229701
NM_000553.6(WRN):c.2733-1G>A rs754056304
NM_000553.6(WRN):c.2733-1_2733del rs1801859348
NM_000553.6(WRN):c.2826-1G>C rs756880457
NM_000553.6(WRN):c.2856dup (p.Glu953fs)
NM_000553.6(WRN):c.2922_2968-316del
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs) rs1802222407
NM_000553.6(WRN):c.2967+1G>A rs1474054365
NM_000553.6(WRN):c.2968-1G>A rs1300106191
NM_000553.6(WRN):c.2968-1G>C
NM_000553.6(WRN):c.3233+1G>C rs1563376793
NM_000553.6(WRN):c.3234-1G>A rs866300270
NM_000553.6(WRN):c.3234-2A>C rs1554533006
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.3309+1G>T rs1281075870
NM_000553.6(WRN):c.3309+2T>G
NM_000553.6(WRN):c.3381_3383+76del rs1585517902
NM_000553.6(WRN):c.3382dup (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3383+1G>A
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) rs1284409960
NM_000553.6(WRN):c.3459+1G>A
NM_000553.6(WRN):c.3459+2T>G rs2130439413
NM_000553.6(WRN):c.3460-1G>C
NM_000553.6(WRN):c.3460-2A>G rs281865159
NM_000553.6(WRN):c.3511del (p.Met1171fs)
NM_000553.6(WRN):c.356-2A>G
NM_000553.6(WRN):c.3572+1G>T rs2130441377
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.3637del (p.Ala1213fs)
NM_000553.6(WRN):c.3670C>T (p.Gln1224Ter)
NM_000553.6(WRN):c.3687+2T>C
NM_000553.6(WRN):c.3688-2A>G rs2130469632
NM_000553.6(WRN):c.3726del (p.Lys1243fs) rs2130469991
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000553.6(WRN):c.3820-1G>A rs1803425342
NM_000553.6(WRN):c.3820-2A>C rs759685032
NM_000553.6(WRN):c.3972del (p.Val1325fs)
NM_000553.6(WRN):c.3982+1G>A rs1381370500
NM_000553.6(WRN):c.3982+1G>C rs1381370500
NM_000553.6(WRN):c.3982+1G>T rs1381370500
NM_000553.6(WRN):c.39_40dup (p.Lys14fs)
NM_000553.6(WRN):c.4109del (p.Asn1370fs)
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
NM_000553.6(WRN):c.4117A>T (p.Arg1373Ter)
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
NM_000553.6(WRN):c.487_488del (p.Asp163fs) rs797045118
NM_000553.6(WRN):c.504+1G>A rs1163988347
NM_000553.6(WRN):c.505-1G>A
NM_000553.6(WRN):c.505-2A>G rs2130048793
NM_000553.6(WRN):c.539_543del (p.Leu180fs)
NM_000553.6(WRN):c.554T>A (p.Leu185Ter)
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.599G>A (p.Trp200Ter)
NM_000553.6(WRN):c.654+2T>C
NM_000553.6(WRN):c.724+513A>G
NM_000553.6(WRN):c.724+515A>G
NM_000553.6(WRN):c.724_724+3del rs1554519449
NM_000553.6(WRN):c.725-1G>A
NM_000553.6(WRN):c.725-1G>C
NM_000553.6(WRN):c.725-2A>G
NM_000553.6(WRN):c.838del (p.Arg280fs)
NM_000553.6(WRN):c.839+1G>A rs2130095451
NM_000553.6(WRN):c.840-1G>C rs1395775047
NM_000553.6(WRN):c.840-2A>T
NM_000553.6(WRN):c.944T>G (p.Leu315Ter) rs1813280584
NM_000553.6(WRN):c.96+1G>A
NM_000553.6(WRN):c.96+1G>T
NM_000553.6(WRN):c.96+1del
NM_000553.6(WRN):c.968C>G (p.Ser323Ter)
NM_000554.6(CRX):c.480_481del (p.Ser161fs) rs1599991538
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_000760.4(CSF3R):c.1577-1G>A
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_000760.4(CSF3R):c.65-1G>A
NM_000760.4(CSF3R):c.65-2A>C
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.998-1G>A rs1248511242
NM_000760.4(CSF3R):c.998-2A>T rs879253750
NM_000782.5(CYP24A1):c.233_234delinsC (p.Gly78fs)
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000782.5(CYP24A1):c.685A>T (p.Lys229Ter) rs2146489987
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1185-2A>C rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1264-2A>G rs1553616478
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) rs1553616508
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu) rs199638075
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter) rs1943770060
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
NM_000784.4(CYP27A1):c.1477-1G>A
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter) rs1553614310
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter) rs1943689487
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter) rs1943689766
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter) rs1943689944
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) rs1943690848
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
NM_000784.4(CYP27A1):c.440_446+2del rs2105978950
NM_000784.4(CYP27A1):c.447-1G>A rs2105979879
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) rs1553616235
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.58del (p.Leu20fs) rs2106479076
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter) rs186812403
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
NM_000784.4(CYP27A1):c.646+1G>A
NM_000784.4(CYP27A1):c.646+1G>C rs79535262
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter) rs1414259537
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter) rs1943736070
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys) rs1943736101
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.845-46_881del
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter) rs1943741125
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
NM_000899.5(KITLG):c.16-2A>G
NM_000899.5(KITLG):c.715-2A>G
NM_001005920.4(JMJD8):c.*65A>G rs1555475794
NM_001006657.2(WDR35):c.1195-2A>T
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.1334+1G>T rs780608299
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001013838.3(CARMIL2):c.1528C>T (p.Gln510Ter)
NM_001013838.3(CARMIL2):c.1753_1754del (p.Gln585fs)
NM_001013838.3(CARMIL2):c.2313+1G>A rs765817045
NM_001013838.3(CARMIL2):c.958+1G>C rs1567628294
NM_001017420.3(ESCO2):c.1013+1G>A rs1225195349
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001017420.3(ESCO2):c.1166G>A (p.Cys389Tyr) rs2128955152
NM_001017420.3(ESCO2):c.116dup (p.Asn39fs) rs1585389705
NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs)
NM_001017420.3(ESCO2):c.862-2A>G rs1804892169
NM_001017420.3(ESCO2):c.956-2A>G rs1207909659
NM_001023570.4(IQCB1):c.100+1G>A
NM_001023570.4(IQCB1):c.101-1G>A rs1372024420
NM_001023570.4(IQCB1):c.101-1G>T
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)
NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs)
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)
NM_001023570.4(IQCB1):c.1056del (p.Leu352fs)
NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs)
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs)
NM_001023570.4(IQCB1):c.1602del (p.Glu534fs)
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_001023570.4(IQCB1):c.263+1G>T
NM_001023570.4(IQCB1):c.394-1G>A
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter) rs2108595322
NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)
NM_001023570.4(IQCB1):c.488-2A>G
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)
NM_001023570.4(IQCB1):c.628dup (p.Ile210fs)
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.767-2A>G rs2108566215
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys) rs778777181
NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) rs1949225959
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs) rs1949141890
NM_001031679.3(MSRB3):c.-147T>G rs949229098
NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg) rs2136722469
NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr) rs1326644602
NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr) rs1566709825
NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter) rs2150915422
NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter) rs1766596437
NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs) rs772030670
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs) rs1561299289
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) rs1569034190
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter) rs773152243
NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs) rs2145833313
NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer) rs1555896285
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter) rs1329127252
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) rs1569040134
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter) rs1206731716
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) rs1555439013
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter) rs538996447
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) rs118204034
NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs) rs1555439049
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) rs1452984345
NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs) rs1555439061
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter) rs1555439063
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter) rs912110093
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter) rs1555439118
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter) rs1555439152
NM_001040616.3(LINS1):c.1222+2T>C
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs) rs2141262985
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs) rs2141261531
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter) rs1383641417
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs) rs1198074890
NM_001040616.3(LINS1):c.631+1G>A
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) rs1596891223
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) rs1057519019
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del) rs1555810299
NM_001042472.3(ABHD12):c.620-2A>G rs1555811525
NM_001042472.3(ABHD12):c.788-1G>T
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) rs886039872
NM_001042544.1:c.3885_3893del
NM_001042545.2(LTBP4):c.1307-2A>G rs970983655
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs) rs1599879104
NM_001042545.2(LTBP4):c.565del (p.Glu189fs) rs2146020978
NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)
NM_001042663.3(PLEKHG5):c.22_23insGGCC (p.Lys8fs) rs2148627334
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter) rs538027448
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs) rs1559366084
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.137-2A>G
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter) rs2105899200
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001048166.1(STIL):c.1078C>T (p.Gln360Ter) rs2149046665
NM_001048166.1(STIL):c.2344_2347del (p.Leu782fs) rs1644859651
NM_001048166.1(STIL):c.2488_2489del (p.Asp830fs)
NM_001048166.1(STIL):c.3538_3541del (p.Asn1180fs)
NM_001048166.1(STIL):c.384dup (p.His129fs) rs2149199098
NM_001048166.1(STIL):c.895T>A (p.Phe299Ile) rs587784452
NM_001048174.2(MUTYH):c.-6-2A>T
NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs) rs768130289
NM_001048174.2(MUTYH):c.1033dup (p.Ala345fs)
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1087dup (p.Gln363fs)
NM_001048174.2(MUTYH):c.1103-32_1115del rs886039606
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs) rs863224501
NM_001048174.2(MUTYH):c.1130del (p.Pro377fs)
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1145_1146dup (p.Pro383fs) rs1553125914
NM_001048174.2(MUTYH):c.116-8_124delinsTCAGCCG
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) rs1060501321
NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs) rs1553125766
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs) rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) rs1060501325
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs) rs1064795480
NM_001048174.2(MUTYH):c.1239+1G>T rs1644818073
NM_001048174.2(MUTYH):c.1240-1G>A rs876660837
NM_001048174.2(MUTYH):c.1240-1G>C
NM_001048174.2(MUTYH):c.1240-2A>G
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs) rs876659414
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp) rs786202133
NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)
NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)
NM_001048174.2(MUTYH):c.1311dup (p.Val438fs) rs1553125100
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) rs1553125075
NM_001048174.2(MUTYH):c.1322_1323del (p.Val441fs) rs2149112658
NM_001048174.2(MUTYH):c.1323_1332dup (p.Ala445fs) rs2149112377
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs) rs1553124893
NM_001048174.2(MUTYH):c.1392_1392+6del rs864621967
NM_001048174.2(MUTYH):c.1393-1G>A rs1057517459
NM_001048174.2(MUTYH):c.1393-2_1393-1del rs1570346782
NM_001048174.2(MUTYH):c.1405dup (p.Tyr469fs)
NM_001048174.2(MUTYH):c.1414C>T (p.Gln472Ter) rs1644624908
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter) rs932830392
NM_001048174.2(MUTYH):c.1418del (p.Gln473fs)
NM_001048174.2(MUTYH):c.1434+2T>C rs2149102678
NM_001048174.2(MUTYH):c.1434+2del rs2149102703
NM_001048174.2(MUTYH):c.1435-2A>G rs1553123105
NM_001048174.2(MUTYH):c.1446_1479del (p.Arg482fs)
NM_001048174.2(MUTYH):c.1446del (p.Arg482fs) rs2149090006
NM_001048174.2(MUTYH):c.1457_1487del (p.Ser486fs) rs2149088820
NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs) rs1553123017
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) rs587782716
NM_001048174.2(MUTYH):c.1468del (p.Ser490fs) rs878854186
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.169C>G (p.His57Asp)
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.241C>G (p.Arg81Gly) rs765123255
NM_001048174.2(MUTYH):c.247C>G (p.Leu83Val) rs2149172338
NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro) rs1557485553
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs) rs878854189
NM_001048174.2(MUTYH):c.264+1G>A rs1553130042
NM_001048174.2(MUTYH):c.264+1G>T rs1553130042
NM_001048174.2(MUTYH):c.304+1G>A
NM_001048174.2(MUTYH):c.304+2T>C
NM_001048174.2(MUTYH):c.304+2T>G
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs) rs1553129652
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.376C>T (p.Gln126Ter)
NM_001048174.2(MUTYH):c.378+1G>A
NM_001048174.2(MUTYH):c.378+1G>T rs1645259682
NM_001048174.2(MUTYH):c.378+1del
NM_001048174.2(MUTYH):c.378+2T>G rs1553129521
NM_001048174.2(MUTYH):c.379-1G>A rs1057520660
NM_001048174.2(MUTYH):c.379-4_382del
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter) rs876660787
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.420+1_493-25del rs1645164432
NM_001048174.2(MUTYH):c.420+2T>C rs587782730
NM_001048174.2(MUTYH):c.420+2T>G rs587782730
NM_001048174.2(MUTYH):c.421-1G>A
NM_001048174.2(MUTYH):c.421-2A>G rs786203161
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) rs1553129062
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.453C>G (p.Tyr151Ter) rs1645192561
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) rs1553128813
NM_001048174.2(MUTYH):c.493-1G>A rs1423002555
NM_001048174.2(MUTYH):c.493-2A>G rs1553128663
NM_001048174.2(MUTYH):c.606+1G>T rs878854193
NM_001048174.2(MUTYH):c.607-1G>A rs1557474906
NM_001048174.2(MUTYH):c.607-2A>C
NM_001048174.2(MUTYH):c.607-2A>T rs1361763237
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly) rs587782885
NM_001048174.2(MUTYH):c.695_705-10del rs1557472384
NM_001048174.2(MUTYH):c.704+1G>C
NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser) rs1570406302
NM_001048174.2(MUTYH):c.705-2A>C rs1645057147
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val) rs876659676
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.849+1G>A
NM_001048174.2(MUTYH):c.849+1G>T rs2149136521
NM_001048174.2(MUTYH):c.849+2T>A
NM_001048174.2(MUTYH):c.849+2T>G rs1060501333
NM_001048174.2(MUTYH):c.867_868del (p.Leu290fs) rs2149134563
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs) rs1645561773
NM_001048174.2(MUTYH):c.913+1G>A rs2149133294
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
NM_001048174.2(MUTYH):c.942_1042del (p.Leu315fs)
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001048174.2(MUTYH):c.980dup (p.Val328fs)
NM_001048174.2(MUTYH):c.994del (p.Arg332fs) rs1057517456
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys) rs1948104184
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1273-2A>G
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
NM_001077365.2(POMT1):c.1585-2A>G rs2131880195
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1699-1G>A rs1949874222
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1825+2T>C
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.229+2T>C rs1945782278
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.539+2T>C
NM_001077365.2(POMT1):c.699+67G>T rs776061161
NM_001077365.2(POMT1):c.856-2A>G
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001077365.2(POMT1):c.987-2A>G
NM_001077418.3(TMEM231):c.140-30A>C rs2080806593
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.439-33_538del
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro) rs397514754
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
NM_001079866.2(BCS1L):c.-50+326A>G
NM_001079866.2(BCS1L):c.1026dup (p.Arg343fs)
NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter)
NM_001079866.2(BCS1L):c.1076G>A (p.Trp359Ter)
NM_001079866.2(BCS1L):c.1156C>T (p.Arg386Ter)
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) rs121908575
NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)
NM_001079866.2(BCS1L):c.280_281del (p.Lys94fs) rs1939382793
NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)
NM_001079866.2(BCS1L):c.321-2A>G
NM_001079866.2(BCS1L):c.397G>T (p.Glu133Ter)
NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter) rs373105002
NM_001079866.2(BCS1L):c.492del (p.Lys165fs)
NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter) rs1559317208
NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)
NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)
NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)
NM_001079866.2(BCS1L):c.671_675del (p.Arg224fs)
NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)
NM_001079866.2(BCS1L):c.734_735delinsC (p.Gly245fs)
NM_001079866.2(BCS1L):c.793C>T (p.Arg265Ter)
NM_001079866.2(BCS1L):c.793_796del (p.Arg265fs)
NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)
NM_001079866.2(BCS1L):c.876del (p.Leu293fs)
NM_001079866.2(BCS1L):c.897_898insCC (p.Lys300fs)
NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter) rs1939635954
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)
NM_001079866.2(BCS1L):c.993_999del (p.Asn332fs)
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter) rs267606855
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys) rs1560690591
NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln)
NM_001080510.5(METTL23):c.126del (p.Lys42fs) rs2143866789
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs) rs1566003392
NM_001082538.3(TCTN1):c.1494+2T>C
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys) rs587784542
NM_001083961.2(WDR62):c.1526C>T (p.Ser509Leu) rs1026664479
NM_001083961.2(WDR62):c.1589dup (p.Glu531fs)
NM_001083961.2(WDR62):c.1684C>G (p.His562Asp) rs1379578836
NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)
NM_001083961.2(WDR62):c.2035-2A>G
NM_001083961.2(WDR62):c.2260C>T (p.Gln754Ter) rs2145795692
NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)
NM_001083961.2(WDR62):c.269+1G>T
NM_001083961.2(WDR62):c.270-15_287del rs2145528028
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)
NM_001083961.2(WDR62):c.332G>C (p.Arg111Thr) rs1970564827
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs) rs797046109
NM_001083961.2(WDR62):c.3412G>T (p.Gly1138Ter)
NM_001083961.2(WDR62):c.3711_3714del (p.Ser1237fs)
NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs) rs1599851667
NM_001083961.2(WDR62):c.4345C>T (p.Gln1449Ter) rs1301404126
NM_001083961.2(WDR62):c.659A>G (p.His220Arg) rs2145586826
NM_001083961.2(WDR62):c.836G>A (p.Cys279Tyr) rs1971033478
NM_001083961.2(WDR62):c.883-4_890del rs1568334868
NM_001083961.2(WDR62):c.897del (p.Cys300fs)
NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser)
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)
NM_001101426.4(CRPPA):c.836-5T>G rs1583487698
NM_001101426.4(CRPPA):c.933+1G>A rs1784247205
NM_001111.5(ADAR):c.1602-2A>G
NM_001111.5(ADAR):c.1786-1G>C
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2763-1G>A
NM_001111.5(ADAR):c.2763-2A>G rs2101579172
NM_001111.5(ADAR):c.2886-1del rs1696896431
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs) rs2101563488
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) rs1571110158
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) rs2101642015
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.550del (p.Ala184fs) rs2127680021
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)
NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr) rs2123647622
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001127649.3(PEX26):c.354del (p.Val120fs) rs1926487809
NM_001127649.3(PEX26):c.361_362del (p.Leu121fs)
NM_001127649.3(PEX26):c.372-2A>G
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)
NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)
NM_001127649.3(PEX26):c.668-2A>G rs2123657331
NM_001127649.3(PEX26):c.71del (p.Pro24fs)
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs) rs1926794975
NM_001127649.3(PEX26):c.814+1G>A
NM_001127671.2(LIFR):c.1105dup (p.Tyr369fs)
NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs)
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001127671.2(LIFR):c.210del (p.Ser71fs) rs2112564371
NM_001127671.2(LIFR):c.2168-1G>A rs2112393633
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer) rs773896661
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) rs1561159768
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.1084-2A>C
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
NM_001128178.3(NPHP1):c.1158+1G>A
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
NM_001128178.3(NPHP1):c.1352+2T>C
NM_001128178.3(NPHP1):c.1352+2T>G
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
NM_001128178.3(NPHP1):c.1643-1G>C
NM_001128178.3(NPHP1):c.1643-2A>G
NM_001128178.3(NPHP1):c.1717-1G>T
NM_001128178.3(NPHP1):c.1717-1dup
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.522+1G>A
NM_001128178.3(NPHP1):c.522+1G>C
NM_001128178.3(NPHP1):c.523-2A>C
NM_001128178.3(NPHP1):c.69+1G>T
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.70-1G>T
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
NM_001128178.3(NPHP1):c.729-1G>C
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.77_143+140del
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
NM_001128178.3(NPHP1):c.860-2A>G
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter) rs2104548702
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter) rs1187168418
NM_001128425.2(MUTYH):c.158-2A>G rs587782066
NM_001128425.2(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) rs1064795596
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter) rs767402084
NM_001128431.4(SLC39A14):c.628-2A>G
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001129.5(AEBP1):c.821del (p.Pro274fs)
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1033+2T>C rs886042617
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) rs2152742282
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) rs2082829594
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) rs2087900330
NM_001130987.2(DYSF):c.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) rs2089169741
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) rs139258703
NM_001130987.2(DYSF):c.1576+1del rs1553537332
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) rs2090909751
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) rs886042633
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) rs2082945195
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) rs2091142154
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) rs2091144091
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
NM_001130987.2(DYSF):c.240-1G>A rs1553518087
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) rs2091951931
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) rs2092205152
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) rs2092208616
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) rs2092209337
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) rs2092210085
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) rs2092211777
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) rs2092231526
NM_001130987.2(DYSF):c.2864+1dup
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) rs763925689
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3085+1G>T rs1553555585
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) rs753711667
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) rs2092369130
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) rs1666836481
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) rs2093222376
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) rs2093464314
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs143393575
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter) rs773773555
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer) rs1574264671
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs) rs1553376558
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs) rs1574277160
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) rs1462064763
NM_001130987.2(DYSF):c.3897+1G>A rs1553376691
NM_001130987.2(DYSF):c.3957+2T>A rs1553377764
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs) rs1553381945
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4221+5del rs1574341049
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
NM_001130987.2(DYSF):c.4626+1G>A rs1558708492
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) rs1572994572
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs) rs2152940961
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) rs1573009747
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) rs2094828804
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) rs2094861411
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) rs868779799
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
NM_001130987.2(DYSF):c.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) rs2094975129
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) rs2094975881
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) rs2094976185
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) rs2094976441
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
NM_001130987.2(DYSF):c.5457+1G>A rs1553414413
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs) rs1553415211
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys) rs1573094789
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) rs2095073059
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) rs1320752132
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) rs1233961202
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5885-1G>A
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) rs2095289978
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
NM_001130987.2(DYSF):c.6174-2A>G rs1451269647
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) rs759065714
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg) rs1559053603
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.952-2A>G rs1553522730
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val) rs1553522751
NM_001130987.2(DYSF):c.982del (p.Ala328fs)
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
NM_001134793.2(HYLS1):c.268C>T (p.Arg90Ter)
NM_001134793.2(HYLS1):c.523G>T (p.Glu175Ter) rs1482689330
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1671del (p.Gly558fs) rs2128056526
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.917del (p.Lys306fs) rs1181159671
NM_001135697.3(SGCA):c.584+521del rs1220674950
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter) rs2145578013
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter) rs751298016
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter) rs2019344087
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs) rs750785552
NM_001136035.4(TRMT1):c.311-1G>A rs2019322057
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu) rs1028050037
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys) rs1567980596
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln) rs1333287390
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro) rs1567985231
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe) rs532842455
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_001142763.1:c.-189197_c.610-5166del
NM_001143992.2(WRAP53):c.438G>A (p.Trp146Ter)
NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter) rs948217913
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs)
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.6194_6453+1del rs2121280782
NM_001145026.2(PTPRQ):c.6739-1G>A rs1565855932
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser) rs1577876794
NM_001145809.2(MYH14):c.571G>A (p.Asp191Asn)
NM_001145809.2(MYH14):c.571G>C (p.Asp191His)
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.1623-1G>A
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001161403.3(LIMS2):c.238+1G>T
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu) rs730882206
NM_001171.5(ABCC6):c.1868-?_1943+?del
NM_001171.5(ABCC6):c.1944_1965del22
NM_001171.6(ABCC6):c.105del (p.Val37fs) rs72664223
NM_001171.6(ABCC6):c.1064T>G (p.Leu355Arg) rs72653758
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1092_1339-1949del
NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter)
NM_001171.6(ABCC6):c.1179_1338+2del rs1555517253
NM_001171.6(ABCC6):c.1194C>G (p.Ser398Arg) rs376518465
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
NM_001171.6(ABCC6):c.1519G>T (p.Glu507Ter) rs368017088
NM_001171.6(ABCC6):c.1519del (p.Glu507fs) rs1555514927
NM_001171.6(ABCC6):c.1575dup (p.Arg526fs) rs72664217
NM_001171.6(ABCC6):c.1635+1G>T rs1264741133
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1712_1713del (p.Leu571fs) rs1555514467
NM_001171.6(ABCC6):c.1734_1742delinsG (p.Asn578fs) rs1555514439
NM_001171.6(ABCC6):c.177_181del (p.Arg60fs) rs1555523438
NM_001171.6(ABCC6):c.1781C>T (p.Ala594Val) rs72653776
NM_001171.6(ABCC6):c.179_195del (p.Arg60fs) rs1555523429
NM_001171.6(ABCC6):c.1857dup (p.Ser620fs) rs72664218
NM_001171.6(ABCC6):c.1892_1943+26del rs1555513581
NM_001171.6(ABCC6):c.1944-1G>C rs1438851867
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.6(ABCC6):c.1978del (p.Ala660fs) rs1555513222
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2030T>C (p.Leu677Pro) rs72653782
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter) rs114303883
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.2170_2173del (p.Arg724fs) rs1555513085
NM_001171.6(ABCC6):c.2177T>C (p.Leu726Pro) rs72653785
NM_001171.6(ABCC6):c.220-1G>C rs72664203
NM_001171.6(ABCC6):c.2245C>T (p.Gln749Ter) rs66616070
NM_001171.6(ABCC6):c.2323del (p.Leu775fs) rs72664229
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2383del (p.Val795fs) rs1555512419
NM_001171.6(ABCC6):c.2416-1_2416del rs111113625
NM_001171.6(ABCC6):c.2524C>T (p.Gln842Ter) rs72653703
NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer) rs765405352
NM_001171.6(ABCC6):c.280del (p.Ile94fs) rs1555522997
NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter) rs72653704
NM_001171.6(ABCC6):c.2820_2821insC (p.Ala941fs) rs72664219
NM_001171.6(ABCC6):c.2836_2851del (p.Leu946fs) rs74315152
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys) rs2152235595
NM_001171.6(ABCC6):c.3168C>A (p.Asp1056Glu) rs72657694
NM_001171.6(ABCC6):c.3207C>A (p.Tyr1069Ter) rs60975032
NM_001171.6(ABCC6):c.333dup (p.Leu112fs) rs1555522983
NM_001171.6(ABCC6):c.3343_3345del (p.Leu1115del) rs72664231
NM_001171.6(ABCC6):c.3362C>G (p.Ser1121Trp) rs63750987
NM_001171.6(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.6(ABCC6):c.3427C>T (p.Gln1143Ter) rs72653743
NM_001171.6(ABCC6):c.3506+2_3506+5del rs72664211
NM_001171.6(ABCC6):c.3544dup (p.Leu1182fs) rs1555508630
NM_001171.6(ABCC6):c.36+1G>T rs1555523841
NM_001171.6(ABCC6):c.3633+1G>A rs1555508604
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter) rs72653745
NM_001171.6(ABCC6):c.3692_3693insTT (p.Ser1232fs) rs779018991
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.6(ABCC6):c.3717T>G (p.Tyr1239Ter) rs72653747
NM_001171.6(ABCC6):c.373G>T (p.Glu125Ter) rs879956688
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3777G>A (p.Trp1259Ter) rs1555507925
NM_001171.6(ABCC6):c.3798del (p.Glu1266fs) rs72664234
NM_001171.6(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer) rs1555507903
NM_001171.6(ABCC6):c.3866_3869dup (p.Ala1291fs) rs1555507893
NM_001171.6(ABCC6):c.3876_3882+1del rs1297171898
NM_001171.6(ABCC6):c.3912del (p.Lys1305fs) rs72664236
NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro) rs63751318
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001171.6(ABCC6):c.4220_4221insGAAA (p.Gln1408fs) rs72664222
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) rs1448934731
NM_001171.6(ABCC6):c.4306_4312del (p.Thr1436fs) rs74315109
NM_001171.6(ABCC6):c.4318del (p.Met1440fs) rs72664238
NM_001171.6(ABCC6):c.4335del (p.Ser1446fs) rs72664239
NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter) rs1333662666
NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter) rs72653751
NM_001171.6(ABCC6):c.4424G>A (p.Gly1475Glu) rs1596578599
NM_001171.6(ABCC6):c.4434del (p.Glu1479fs) rs72664280
NM_001171.6(ABCC6):c.4501G>A (p.Gly1501Ser) rs63750874
NM_001171.6(ABCC6):c.46C>T (p.Gln16Ter) rs1555523535
NM_001171.6(ABCC6):c.601-2A>G rs1555520991
NM_001171.6(ABCC6):c.676G>A (p.Gly226Arg) rs72653755
NM_001171.6(ABCC6):c.681C>G (p.Tyr227Ter) rs1315925055
NM_001171.6(ABCC6):c.708_709dup (p.Trp237fs) rs1343632105
NM_001171.6(ABCC6):c.713C>A (p.Ser238Ter) rs763591743
NM_001171.6(ABCC6):c.938dup (p.Thr315fs) rs72664216
NM_001171.6(ABCC6):c.960del (p.Ser321fs) rs72664226
NM_001171.6(ABCC6):c.962del (p.Ser321fs) rs1555518824
NM_001171.6(ABCC6):c.998+2_998+3del rs72664204
NM_001171.6(ABCC6):c.998+2del rs72664205
NM_001173976.2(TCTN1):c.1011-2_1012del
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
NM_001174150.2(ARL13B):c.59+1G>A
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp) rs765920708
NM_001184.4(ATR):c.151+4A>G rs1481733213
NM_001184.4(ATR):c.2320dup (p.Ile774fs) rs757500301
NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn) rs1553761113
NM_001184.4(ATR):c.5196+1G>A rs1553760567
NM_001184.4(ATR):c.7597C>T (p.Arg2533Ter)
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001194998.2(CEP152):c.419del (p.Gln140fs)
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter) rs1897359016
NM_001194998.2(CEP152):c.780del (p.Asn260fs) rs1567024512
NM_001194998.2(CEP152):c.833-1G>C
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.1750-2A>G
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199107.2(TBC1D24):c.1303-2A>G rs2141876985
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) rs1489466696
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) rs1555501320
NM_001199107.2(TBC1D24):c.965+1G>T
NM_001199107.2(TBC1D24):c.983+1G>C rs2141873582
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001199563.2(BVES):c.518dup (p.Ser174fs)
NM_001199563.2(BVES):c.602C>T (p.Ser201Phe) rs869025337
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs) rs2071390190
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) rs1559870857
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001205254.2(OCLN):c.1254-1G>A
NM_001205254.2(OCLN):c.1542del (p.Gly515fs)
NM_001205254.2(OCLN):c.252del (p.Ser85fs) rs863225128
NM_001205254.2(OCLN):c.50+2T>C rs1580547828
NM_001205254.2(OCLN):c.546G>C (p.Leu182=) rs1580554633
NM_001205254.2(OCLN):c.630_645del (p.Gln211fs)
NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp) rs2138306726
NM_001218.5(CA12):c.956_957del (p.Val319fs) rs757974800
NM_001242882.2(NAXD):c.441+3A>G rs2139640370
NM_001242882.2(NAXD):c.442-1G>A
NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter) rs1331075407
NM_001242882.2(NAXD):c.794_798dup (p.Val267fs)
NM_001242908.2(RSPO1):c.254del (p.Asp85fs)
NM_001244189.1(KIAA0586):c.2602_2612del11
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)
NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.297del (p.Asp100fs)
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln) rs2052560214
NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)
NM_001256317.3(TMPRSS3):c.783-1G>T rs1237955948
NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)
NM_001256850.1(TTN):c.86916dup (p.Val28973fs) rs730880365
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter) rs1553503201
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) rs1553503113
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter) rs1691881913
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_001267550.2(TTN):c.100172-1G>C rs2154137558
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
NM_001267550.2(TTN):c.100325del (p.Val33442fs) rs1691525574
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs) rs2154137420
NM_001267550.2(TTN):c.100367del (p.Asn33456fs) rs2154137422
NM_001267550.2(TTN):c.100369del (p.Ile33458fs) rs2154137417
NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter) rs374920916
NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)
NM_001267550.2(TTN):c.100641dup (p.Phe33548fs) rs2154137207
NM_001267550.2(TTN):c.100701_100702dup (p.Tyr33568fs) rs2154137167
NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter) rs2154137150
NM_001267550.2(TTN):c.100766-1G>T
NM_001267550.2(TTN):c.100766-2A>T rs1364779690
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs) rs1691180795
NM_001267550.2(TTN):c.100883_100886dup (p.Trp33629fs)
NM_001267550.2(TTN):c.100906dup (p.Ile33636fs)
NM_001267550.2(TTN):c.100924_100940del (p.Tyr33642fs)
NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs) rs1559050685
NM_001267550.2(TTN):c.100947del (p.Phe33650fs) rs1691117338
NM_001267550.2(TTN):c.101027del (p.Gly33676fs) rs2154136770
NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter) rs561471402
NM_001267550.2(TTN):c.101094_101097del (p.Ser33699fs) rs1691030502
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) rs869312122
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)
NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)
NM_001267550.2(TTN):c.101207G>A (p.Trp33736Ter) rs2154136654
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter) rs1559047711
NM_001267550.2(TTN):c.101230del (p.Glu33744fs) rs1575293252
NM_001267550.2(TTN):c.101440del (p.Glu33814fs) rs1690880184
NM_001267550.2(TTN):c.101458_101459del (p.Met33820fs)
NM_001267550.2(TTN):c.101494dup (p.Ile33832fs) rs1559044465
NM_001267550.2(TTN):c.101567del (p.Asp33856fs) rs1690814987
NM_001267550.2(TTN):c.101627dup (p.Leu33876fs) rs1690787769
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter) rs2154136345
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer) rs2154136319
NM_001267550.2(TTN):c.101676dup (p.Glu33893Ter)
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter) rs376813674
NM_001267550.2(TTN):c.101694dup (p.Asp33899Ter)
NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter) rs943777958
NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.101793_101794del (p.His33931fs)
NM_001267550.2(TTN):c.101920del (p.Leu33974fs) rs1690665406
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter) rs1575283255
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter) rs534613934
NM_001267550.2(TTN):c.101985dup (p.Thr33996fs)
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) rs869312068
NM_001267550.2(TTN):c.102057del (p.Asn34020fs) rs1690605753
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter) rs1060500471
NM_001267550.2(TTN):c.102176_102177del (p.Lys34059fs)
NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs) rs754731686
NM_001267550.2(TTN):c.102269_102270dup (p.Arg34091fs) rs751329439
NM_001267550.2(TTN):c.102289del (p.Thr34096_Leu34097insTer) rs2154135814
NM_001267550.2(TTN):c.102300del (p.Asp34101fs) rs2154135804
NM_001267550.2(TTN):c.102309_102310insCCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGACCTCAAC (p.Met34104delinsProAsnAlaArgTer) rs2154135797
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter) rs1212204584
NM_001267550.2(TTN):c.102375del (p.Ala34126fs) rs2154135741
NM_001267550.2(TTN):c.102388_102397del (p.Val34130fs)
NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)
NM_001267550.2(TTN):c.102537_102538del (p.Asn34179fs)
NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)
NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter) rs1690344942
NM_001267550.2(TTN):c.102630_102645dup (p.Gly34216delinsSerSerGlnTer) rs2154135556
NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs) rs1559031280
NM_001267550.2(TTN):c.102744del (p.Asp34249fs) rs2154135500
NM_001267550.2(TTN):c.102749del (p.Thr34250fs) rs2154135490
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del) rs886044414
NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs) rs1060500589
NM_001267550.2(TTN):c.102872_102878del (p.Trp34291fs) rs2154135366
NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter) rs1575269011
NM_001267550.2(TTN):c.102937_102940dup (p.Gly34314fs) rs2154135311
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del) rs878854378
NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)
NM_001267550.2(TTN):c.103043_103044insA (p.Thr34349fs) rs1690115787
NM_001267550.2(TTN):c.103061del (p.Pro34354fs) rs1690111134
NM_001267550.2(TTN):c.103073_103076dup (p.Ser34359delinsArgTer) rs2154135223
NM_001267550.2(TTN):c.103155_103156del (p.Arg34385fs) rs1575265345
NM_001267550.2(TTN):c.103172dup (p.Pro34392fs)
NM_001267550.2(TTN):c.103189del (p.Glu34397fs) rs2154135131
NM_001267550.2(TTN):c.103317_103320del (p.Asn34440fs)
NM_001267550.2(TTN):c.103336del (p.Ser34446fs) rs1553491793
NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter) rs1060500505
NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter) rs1575259969
NM_001267550.2(TTN):c.103459_103460del (p.Leu34487fs) rs1689940049
NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)
NM_001267550.2(TTN):c.103518del (p.Ala34507fs) rs1553491220
NM_001267550.2(TTN):c.103580_103583dup (p.Glu34528fs)
NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)
NM_001267550.2(TTN):c.103638dup (p.Lys34547fs)
NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)
NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.103726_103727insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGATACGTG (p.Asp34576delinsGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysAspThrTer)
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs) rs1689777278
NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter) rs749082693
NM_001267550.2(TTN):c.103814dup (p.Met34606fs)
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter) rs2154134580
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs) rs2154134575
NM_001267550.2(TTN):c.103938_103939del (p.Phe34646fs) rs1689704657
NM_001267550.2(TTN):c.103943del (p.Tyr34648fs) rs1689700102
NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)
NM_001267550.2(TTN):c.104069del (p.Gly34690fs) rs2154134397
NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter) rs886043279
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs) rs2154134297
NM_001267550.2(TTN):c.104171_104172del (p.Lys34724fs) rs2154134302
NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)
NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)
NM_001267550.2(TTN):c.104302_104303del (p.Arg34768fs)
NM_001267550.2(TTN):c.104421_104425del (p.Arg34807fs) rs1689427568
NM_001267550.2(TTN):c.104484_104487dup (p.Ser34830fs)
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.104609del (p.Asp34870fs)
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003
NM_001267550.2(TTN):c.104666_104667del (p.Pro34889fs) rs1689304332
NM_001267550.2(TTN):c.104668dup (p.Val34890fs) rs2154133906
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal) rs1689265228
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter) rs1559003939
NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs) rs1402952523
NM_001267550.2(TTN):c.104953del (p.Ser34985fs) rs2154133695
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105241del (p.Glu35081fs)
NM_001267550.2(TTN):c.105288del (p.Ser35095_Tyr35096insTer)
NM_001267550.2(TTN):c.105296_105297del (p.Ser35099fs)
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter) rs1558995457
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)
NM_001267550.2(TTN):c.105614del (p.Asn35205fs) rs2154133153
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs) rs1688794902
NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs) rs1553484602
NM_001267550.2(TTN):c.105832C>T (p.Gln35278Ter)
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter) rs1575219172
NM_001267550.2(TTN):c.105997_105998del (p.Gln35333fs)
NM_001267550.2(TTN):c.106015del (p.Asp35339fs) rs1558988204
NM_001267550.2(TTN):c.106019del (p.Gly35340fs) rs727504482
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter) rs778126842
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
NM_001267550.2(TTN):c.106374+1del rs763404256
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=) rs2154132585
NM_001267550.2(TTN):c.106487dup (p.Asn35496fs) rs2154132395
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106531G>C (p.Ala35511Pro)
NM_001267550.2(TTN):c.106698del (p.Ala35567fs)
NM_001267550.2(TTN):c.106740del (p.Ala35581fs) rs2154131505
NM_001267550.2(TTN):c.106768dup (p.His35590fs) rs1687796533
NM_001267550.2(TTN):c.106773_106780del (p.Glu35591fs)
NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter) rs753984036
NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)
NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter) rs750660824
NM_001267550.2(TTN):c.107006del (p.His35669fs)
NM_001267550.2(TTN):c.107033dup (p.Ser35679fs) rs2154131263
NM_001267550.2(TTN):c.107065_107068del (p.Gln35689fs) rs2154131227
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)
NM_001267550.2(TTN):c.107202_107203del (p.Trp35735fs) rs1575189496
NM_001267550.2(TTN):c.107204G>A (p.Trp35735Ter)
NM_001267550.2(TTN):c.107223+1G>A rs876658102
NM_001267550.2(TTN):c.107223+2T>C
NM_001267550.2(TTN):c.107224-1G>C rs112720067
NM_001267550.2(TTN):c.107224-2A>G rs111401822
NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs)
NM_001267550.2(TTN):c.107312dup (p.Tyr35772fs) rs2154130897
NM_001267550.2(TTN):c.107322del (p.Lys35775fs) rs2154130886
NM_001267550.2(TTN):c.107343_107346del (p.Gln35782fs)
NM_001267550.2(TTN):c.107344C>T (p.Gln35782Ter)
NM_001267550.2(TTN):c.107351C>A (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107460_107463dup (p.Gln35822fs) rs886042246
NM_001267550.2(TTN):c.107617G>T (p.Gly35873Ter)
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter) rs1278698690
NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter) rs368277535
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr) rs1060500541
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter) rs2082478614
NM_001267550.2(TTN):c.11880dup (p.Val3961fs)
NM_001267550.2(TTN):c.12218_12222dup (p.Val4075fs)
NM_001267550.2(TTN):c.12319del (p.Leu4107fs) rs2154318463
NM_001267550.2(TTN):c.12850C>T (p.Gln4284Ter) rs2082282118
NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13085_13086del (p.Glu4362fs) rs2154317985
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter) rs1064793411
NM_001267550.2(TTN):c.13450del (p.Glu4484fs) rs2082158844
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
NM_001267550.2(TTN):c.13817_13818dup (p.Met4607fs)
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter) rs1313233245
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs) rs767038068
NM_001267550.2(TTN):c.1398+1G>A
NM_001267550.2(TTN):c.14198G>A (p.Trp4733Ter) rs1574050861
NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter) rs1553934752
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)
NM_001267550.2(TTN):c.14372-2A>C rs747942388
NM_001267550.2(TTN):c.14372-2A>G
NM_001267550.2(TTN):c.15177_15181delinsAGTACT (p.Asp5059fs)
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.17506dup (p.Gln5836fs)
NM_001267550.2(TTN):c.17967C>G (p.Tyr5989Ter) rs2154308240
NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.19709_19710del (p.Val6570fs)
NM_001267550.2(TTN):c.20449del (p.Ser6817fs) rs2079254006
NM_001267550.2(TTN):c.20836+1G>T
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)
NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)
NM_001267550.2(TTN):c.23099-2A>G rs2154300788
NM_001267550.2(TTN):c.23998del (p.Ala8000fs) rs2154300048
NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)
NM_001267550.2(TTN):c.25063+1G>A rs754247415
NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)
NM_001267550.2(TTN):c.26067C>G (p.Tyr8689Ter) rs377125716
NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter) rs778206438
NM_001267550.2(TTN):c.26926del (p.Thr8975_Leu8976insTer) rs2154296486
NM_001267550.2(TTN):c.27329-1del
NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)
NM_001267550.2(TTN):c.28174+1G>T rs1577824925
NM_001267550.2(TTN):c.28462+1G>T rs2076520917
NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)
NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)
NM_001267550.2(TTN):c.31519_31523dup (p.Gln10509fs) rs2154281189
NM_001267550.2(TTN):c.31762+1G>T
NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter) rs1396898734
NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs)
NM_001267550.2(TTN):c.32470+2T>C
NM_001267550.2(TTN):c.32700dup (p.Glu10901fs)
NM_001267550.2(TTN):c.32887+1G>T rs546105899
NM_001267550.2(TTN):c.33418+2T>A rs779749654
NM_001267550.2(TTN):c.3425dup (p.Ile1143fs)
NM_001267550.2(TTN):c.34379-1G>C
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) rs1554015228
NM_001267550.2(TTN):c.35123del (p.His11708fs)
NM_001267550.2(TTN):c.35321_35322del (p.Pro11774fs)
NM_001267550.2(TTN):c.35630-1G>C rs2154262004
NM_001267550.2(TTN):c.36003del (p.Phe12001fs)
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.36364+1G>C
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter) rs1227198694
NM_001267550.2(TTN):c.3729+1G>A rs781562337
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter) rs750990843
NM_001267550.2(TTN):c.39212-1G>A
NM_001267550.2(TTN):c.39251del (p.Val13084fs)
NM_001267550.2(TTN):c.39709+1G>A
NM_001267550.2(TTN):c.39895+1G>A rs749931280
NM_001267550.2(TTN):c.40297+1G>A
NM_001267550.2(TTN):c.40437del (p.Lys13479fs)
NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)
NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41885-3_41885del rs2154229192
NM_001267550.2(TTN):c.41937del (p.Glu13980fs)
NM_001267550.2(TTN):c.41941dup (p.Ser13981fs)
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter) rs2154227697
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.42919_42923del (p.Lys14307fs) rs1060500566
NM_001267550.2(TTN):c.4293del (p.Met1432fs)
NM_001267550.2(TTN):c.43269del (p.Asp14423fs)
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter) rs1060500487
NM_001267550.2(TTN):c.45383del (p.Asn15128fs)
NM_001267550.2(TTN):c.45459del (p.Arg15154fs)
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.46609C>T (p.Gln15537Ter) rs1131691528
NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)
NM_001267550.2(TTN):c.46843dup (p.Thr15615fs) rs1553712292
NM_001267550.2(TTN):c.46865del (p.Phe15622fs)
NM_001267550.2(TTN):c.46986dup (p.Asn15663Ter) rs2154209578
NM_001267550.2(TTN):c.47040del (p.Glu15680fs) rs2057734561
NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer) rs869312107
NM_001267550.2(TTN):c.47143_47146dup (p.Phe15716Ter) rs1422071853
NM_001267550.2(TTN):c.47195dup (p.Ser15733fs)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47269+2T>C rs1060500419
NM_001267550.2(TTN):c.47285del (p.Pro15762fs)
NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)
NM_001267550.2(TTN):c.47379C>G (p.Tyr15793Ter)
NM_001267550.2(TTN):c.47384_47385insCT (p.Glu15796fs)
NM_001267550.2(TTN):c.47398_47402dup (p.Ser15802fs)
NM_001267550.2(TTN):c.47407del (p.Ile15803fs) rs2154209120
NM_001267550.2(TTN):c.47414G>A (p.Trp15805Ter)
NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter) rs2057643696
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer) rs1447249014
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) rs397517589
NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter) rs762271078
NM_001267550.2(TTN):c.47573-1G>A
NM_001267550.2(TTN):c.47573-1G>C
NM_001267550.2(TTN):c.47576_47577delGA rs1060500489
NM_001267550.2(TTN):c.47579del (p.Pro15860fs) rs2154208767
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter) rs886044009
NM_001267550.2(TTN):c.47639G>A (p.Trp15880Ter)
NM_001267550.2(TTN):c.47660_47663del (p.Gly15887fs)
NM_001267550.2(TTN):c.47674_47680dup (p.Tyr15894fs)
NM_001267550.2(TTN):c.47688del (p.Ile15896fs)
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter) rs530338718
NM_001267550.2(TTN):c.47708_47709del (p.Lys15903fs)
NM_001267550.2(TTN):c.47760+1G>A rs2154208642
NM_001267550.2(TTN):c.47761-2A>T
NM_001267550.2(TTN):c.47786_47789del (p.Lys15929fs) rs2154208514
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter) rs2057499255
NM_001267550.2(TTN):c.47808del (p.Glu15937fs)
NM_001267550.2(TTN):c.47885dup (p.Met15963fs) rs2057454001
NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter) rs878982457
NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)
NM_001267550.2(TTN):c.48002_48006dup (p.Leu16003fs) rs2154208302
NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)
NM_001267550.2(TTN):c.48142del (p.Ile16048fs)
NM_001267550.2(TTN):c.48157_48158del (p.Ile16053fs) rs2154208239
NM_001267550.2(TTN):c.48167del (p.Pro16056fs) rs1443466576
NM_001267550.2(TTN):c.48177del (p.Glu16061fs)
NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)
NM_001267550.2(TTN):c.48223_48227dup (p.Trp16076Ter)
NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer) rs1553706971
NM_001267550.2(TTN):c.48229del (p.Glu16077fs)
NM_001267550.2(TTN):c.48233del (p.Pro16078fs)
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
NM_001267550.2(TTN):c.48264del (p.Gly16089fs) rs2154208052
NM_001267550.2(TTN):c.48312+2T>C rs2057367803
NM_001267550.2(TTN):c.48313-1G>A rs2154207046
NM_001267550.2(TTN):c.48320_48323dup (p.Phe16108fs)
NM_001267550.2(TTN):c.48369dup (p.Glu16124fs) rs1553705557
NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs) rs1064796347
NM_001267550.2(TTN):c.48433G>T (p.Glu16145Ter)
NM_001267550.2(TTN):c.48461-1G>A rs2154206288
NM_001267550.2(TTN):c.48461-2A>C rs1553705079
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter) rs1312425985
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
NM_001267550.2(TTN):c.48521T>G (p.Leu16174Ter)
NM_001267550.2(TTN):c.48542dup (p.Asn16181fs) rs1576472316
NM_001267550.2(TTN):c.48550_48553dup (p.Ser16185fs) rs2154205990
NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)
NM_001267550.2(TTN):c.48606G>A (p.Trp16202Ter)
NM_001267550.2(TTN):c.48629del (p.Ala16210fs) rs2057135958
NM_001267550.2(TTN):c.48634del (p.Thr16212fs) rs2154205763
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs) rs2057026455
NM_001267550.2(TTN):c.48759del (p.Glu16254fs) rs2057015875
NM_001267550.2(TTN):c.48760+1G>A
NM_001267550.2(TTN):c.48760+1G>C
NM_001267550.2(TTN):c.48760+1G>T
NM_001267550.2(TTN):c.48760+2T>C
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)
NM_001267550.2(TTN):c.48808_48809del (p.Val16270fs)
NM_001267550.2(TTN):c.48832del (p.Leu16278fs)
NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs) rs1576461647
NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)
NM_001267550.2(TTN):c.49048+1G>A
NM_001267550.2(TTN):c.49049-1G>C rs868064056
NM_001267550.2(TTN):c.49049-2A>C
NM_001267550.2(TTN):c.49101_49102del (p.Cys16368fs) rs1576457869
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043
NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)
NM_001267550.2(TTN):c.49345+1G>T
NM_001267550.2(TTN):c.49345+2T>C rs1559805633
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter) rs202094100
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
NM_001267550.2(TTN):c.49525dup (p.Thr16509fs) rs2154201255
NM_001267550.2(TTN):c.49533-1G>C
NM_001267550.2(TTN):c.49533-2A>G
NM_001267550.2(TTN):c.49648+1G>A
NM_001267550.2(TTN):c.49648+1G>T
NM_001267550.2(TTN):c.49649-2A>T rs2154200803
NM_001267550.2(TTN):c.49666G>T (p.Gly16556Ter)
NM_001267550.2(TTN):c.49685del (p.Asp16562fs)
NM_001267550.2(TTN):c.49700C>A (p.Ser16567Ter)
NM_001267550.2(TTN):c.49749dup (p.Glu16584Ter) rs2056619632
NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter) rs72677247
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) rs1553699454
NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter) rs1553699440
NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter) rs794729264
NM_001267550.2(TTN):c.49874_49877dup (p.Arg16626delinsSerTer) rs2056596896
NM_001267550.2(TTN):c.49948+2T>G
NM_001267550.2(TTN):c.49948+2_49948+10del rs2056581815
NM_001267550.2(TTN):c.49949-1G>T
NM_001267550.2(TTN):c.49964del (p.Pro16655fs)
NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter) rs2154200456
NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter) rs2154200433
NM_001267550.2(TTN):c.50074_50075del (p.Asp16692fs) rs1060500513
NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter) rs2056504499
NM_001267550.2(TTN):c.50098dup (p.Thr16700fs)
NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)
NM_001267550.2(TTN):c.50281_50284del (p.Val16761fs)
NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter) rs1433307898
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter) rs72677249
NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer) rs1553696967
NM_001267550.2(TTN):c.50552-1G>A
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.50692A>T (p.Lys16898Ter)
NM_001267550.2(TTN):c.50746del (p.Glu16916fs)
NM_001267550.2(TTN):c.50787_50788del (p.Arg16929fs)
NM_001267550.2(TTN):c.50857+1G>A rs2154199718
NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter) rs2154199623
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter) rs794729268
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs) rs2056249919
NM_001267550.2(TTN):c.50994_50997dup (p.Arg17000Ter) rs1413836585
NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter) rs1060500500
NM_001267550.2(TTN):c.51060dup (p.Asp17021fs) rs2154199483
NM_001267550.2(TTN):c.51136+1del rs2154199433
NM_001267550.2(TTN):c.51193A>T (p.Lys17065Ter)
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr) rs2154198963
NM_001267550.2(TTN):c.51229_51230del (p.Thr17077fs) rs2056008282
NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs) rs1553693444
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.51444del (p.Asp17149fs) rs1362409861
NM_001267550.2(TTN):c.51449del (p.Pro17150fs) rs2055912067
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.51524dup (p.Gly17176fs)
NM_001267550.2(TTN):c.51525del (p.Ser17177fs) rs1553692435
NM_001267550.2(TTN):c.51544_51545del (p.Tyr17182fs)
NM_001267550.2(TTN):c.51574G>T (p.Glu17192Ter)
NM_001267550.2(TTN):c.51576_51577del (p.Arg17193fs) rs2154198710
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.51648del (p.Glu17217fs) rs1553692140
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter) rs1060500503
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51782del (p.Arg17261fs) rs2154198520
NM_001267550.2(TTN):c.51833_51848del (p.Thr17278fs) rs794729391
NM_001267550.2(TTN):c.51834_51838dup (p.Thr17280fs) rs2154198494
NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter) rs1559759828
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.51871G>T (p.Glu17291Ter)
NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs) rs747513278
NM_001267550.2(TTN):c.51919G>T (p.Glu17307Ter) rs2154198436
NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter) rs2154198430
NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter) rs2055753321
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
NM_001267550.2(TTN):c.52063_52064insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATNNNNNNNNNNNNGAAAATGACC (p.Asp17354_His17355insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspXaaXaaXaaXaaGluAsnAsp) rs2154198326
NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn) rs1167384081
NM_001267550.2(TTN):c.52103-1G>A rs2154197995
NM_001267550.2(TTN):c.52150dup (p.Thr17384fs) rs2154197954
NM_001267550.2(TTN):c.52226_52227del (p.Lys17409fs) rs2055549415
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs) rs727503615
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs) rs2055544893
NM_001267550.2(TTN):c.52316_52317dup (p.Glu17440fs)
NM_001267550.2(TTN):c.52317dup (p.Glu17440fs)
NM_001267550.2(TTN):c.52358del (p.Pro17453fs) rs2154197774
NM_001267550.2(TTN):c.52405+1G>T
NM_001267550.2(TTN):c.52405+2T>C
NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter) rs794729271
NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer) rs1559748217
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter) rs1559748120
NM_001267550.2(TTN):c.52546del (p.Trp17516fs)
NM_001267550.2(TTN):c.52551del (p.Arg17518fs)
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer) rs1064792915
NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)
NM_001267550.2(TTN):c.52619_52620del (p.Tyr17540fs)
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
NM_001267550.2(TTN):c.52706-1G>C rs2055351447
NM_001267550.2(TTN):c.52706-1G>T
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs) rs878854315
NM_001267550.2(TTN):c.52736del (p.Thr17579fs) rs2154197312
NM_001267550.2(TTN):c.52767dup (p.Trp17590fs) rs2154197298
NM_001267550.2(TTN):c.52778del (p.Pro17593fs)
NM_001267550.2(TTN):c.52801del (p.Ile17601fs) rs2154197283
NM_001267550.2(TTN):c.52825del (p.Gln17609fs) rs2055323171
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter) rs2055319182
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs) rs2055292474
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter) rs2154197188
NM_001267550.2(TTN):c.53003-1G>C rs2154197076
NM_001267550.2(TTN):c.53012_53030del (p.Ala17671fs)
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter) rs2154197059
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer) rs2154197040
NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter) rs571702144
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.53315_53316del (p.Lys17772fs) rs2154196835
NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)
NM_001267550.2(TTN):c.53359del (p.Asp17787fs) rs2055103568
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter) rs2055101555
NM_001267550.2(TTN):c.53456_53457del (p.Arg17819fs)
NM_001267550.2(TTN):c.53526del (p.Lys17842fs) rs2154196732
NM_001267550.2(TTN):c.53564_53581+6del
NM_001267550.2(TTN):c.53581+1del
NM_001267550.2(TTN):c.53582-1G>A rs2054612323
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53602_53603del (p.Arg17868fs)
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
NM_001267550.2(TTN):c.53703dup (p.Arg17902fs) rs1576340321
NM_001267550.2(TTN):c.53770del (p.Val17924fs) rs1559723763
NM_001267550.2(TTN):c.53789_53790del (p.His17930fs)
NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter) rs2054564830
NM_001267550.2(TTN):c.53831del (p.Gly17944fs)
NM_001267550.2(TTN):c.53848dup (p.Leu17950fs) rs1553682760
NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)
NM_001267550.2(TTN):c.53997dup (p.Trp18000fs)
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter) rs72646813
NM_001267550.2(TTN):c.54037del (p.Ala18013fs)
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54228del (p.Asp18076fs)
NM_001267550.2(TTN):c.54257G>A (p.Trp18086Ter) rs2154195201
NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG rs1576327348
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs) rs2054384043
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter) rs769624146
NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter) rs1576323463
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter) rs2054207747
NM_001267550.2(TTN):c.54500_54509del (p.Pro18167fs)
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
NM_001267550.2(TTN):c.54529del (p.Ala18177fs)
NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter) rs794729274
NM_001267550.2(TTN):c.54588_54589del (p.Pro18197fs)
NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter) rs2154194712
NM_001267550.2(TTN):c.54620_54624del (p.Glu18207fs) rs2054170313
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) rs397517620
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
NM_001267550.2(TTN):c.5477del (p.Gly1826fs) rs2154346135
NM_001267550.2(TTN):c.54793del (p.Val18265fs) rs2154194616
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs) rs1553679072
NM_001267550.2(TTN):c.54811+1G>A rs1205836993
NM_001267550.2(TTN):c.54812-1G>C
NM_001267550.2(TTN):c.54812-1G>T rs1416873295
NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)
NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter) rs2053697356
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs)
NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter) rs2053680009
NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter) rs2053658622
NM_001267550.2(TTN):c.55119del (p.Glu18374fs) rs2154193527
NM_001267550.2(TTN):c.55120_55120+3del
NM_001267550.2(TTN):c.55121-1G>A rs1576297857
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs) rs2154193431
NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter) rs1559696193
NM_001267550.2(TTN):c.55156_55165del (p.Asp18386fs) rs1553674975
NM_001267550.2(TTN):c.55168del (p.Cys18390fs)
NM_001267550.2(TTN):c.55173dup (p.Ala18392fs) rs2154193411
NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter) rs2053599652
NM_001267550.2(TTN):c.55269+1del rs2154193352
NM_001267550.2(TTN):c.55366_55372dup (p.Ser18458fs)
NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter) rs2154193077
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
NM_001267550.2(TTN):c.55425dup (p.Val18476fs)
NM_001267550.2(TTN):c.55432+1G>A rs2053485503
NM_001267550.2(TTN):c.55432+1G>T
NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs) rs1064796230
NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter) rs2053403381
NM_001267550.2(TTN):c.55719del (p.Arg18574fs) rs2154192801
NM_001267550.2(TTN):c.55728del (p.Ile18577fs)
NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter) rs2154192691
NM_001267550.2(TTN):c.55755dup (p.Leu18586fs) rs2154192678
NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter) rs2053315643
NM_001267550.2(TTN):c.55802_55803del (p.Lys18601fs)
NM_001267550.2(TTN):c.55808dup (p.Lys18604fs)
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs) rs2154192604
NM_001267550.2(TTN):c.55885G>T (p.Glu18629Ter)
NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter) rs764985774
NM_001267550.2(TTN):c.56050+1G>A
NM_001267550.2(TTN):c.56052C>A (p.Cys18684Ter)
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter) rs1391010387
NM_001267550.2(TTN):c.56122del (p.Ile18708fs) rs2154191490
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.56200_56215dup (p.Asn18739delinsIleTer)
NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter) rs1559669986
NM_001267550.2(TTN):c.56275_56276dup (p.Gly18760fs)
NM_001267550.2(TTN):c.56286dup (p.Thr18763fs) rs2154191397
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.56347+31_56395del
NM_001267550.2(TTN):c.56348-1G>A rs2052685102
NM_001267550.2(TTN):c.56387_56388del (p.Ser18796fs)
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)
NM_001267550.2(TTN):c.56417G>A (p.Trp18806Ter) rs2154191239
NM_001267550.2(TTN):c.56487del (p.Lys18830fs)
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter) rs1576247054
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs) rs1294679653
NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)
NM_001267550.2(TTN):c.56598del (p.Ile18867fs) rs1553664644
NM_001267550.2(TTN):c.56645del (p.Phe18882fs) rs2052619475
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)
NM_001267550.2(TTN):c.56741del (p.Ser18914fs) rs1553663867
NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter) rs2154190939
NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter) rs1576240126
NM_001267550.2(TTN):c.56790_56792dup (p.Trp18931Ter)
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter) rs1060500526
NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter) rs2154190918
NM_001267550.2(TTN):c.56795del (p.Lys18932fs)
NM_001267550.2(TTN):c.56853del (p.Gly18952fs) rs794729392
NM_001267550.2(TTN):c.56900_56901del (p.Asn18967fs)
NM_001267550.2(TTN):c.56933C>G (p.Ser18978Ter)
NM_001267550.2(TTN):c.56941_56957del (p.Ala18981fs) rs2154190805
NM_001267550.2(TTN):c.56949del (p.Arg18984fs)
NM_001267550.2(TTN):c.56962+1G>A
NM_001267550.2(TTN):c.56999G>A (p.Trp19000Ter)
NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter) rs878854318
NM_001267550.2(TTN):c.57030del (p.Pro19012fs) rs2154190616
NM_001267550.2(TTN):c.57035dup (p.Leu19013fs) rs1553662457
NM_001267550.2(TTN):c.57041_57044del (p.Lys19014fs)
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer) rs1553662326
NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)
NM_001267550.2(TTN):c.57111_57111+9del rs1553661994
NM_001267550.2(TTN):c.57112-1G>A rs2154190178
NM_001267550.2(TTN):c.57112-1G>C rs2154190178
NM_001267550.2(TTN):c.57115A>T (p.Lys19039Ter)
NM_001267550.2(TTN):c.57230_57231del (p.Val19077fs)
NM_001267550.2(TTN):c.57233_57234del (p.Thr19078fs)
NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter) rs2052181050
NM_001267550.2(TTN):c.57277C>T (p.Gln19093Ter)
NM_001267550.2(TTN):c.57295_57296insC (p.Arg19099fs) rs2154189974
NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)
NM_001267550.2(TTN):c.57354_57364del (p.Lys19119fs)
NM_001267550.2(TTN):c.57363del (p.Pro19122fs) rs2154189911
NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter) rs1553659628
NM_001267550.2(TTN):c.57494_57495insTC (p.Lys19166fs)
NM_001267550.2(TTN):c.57544+1G>A rs2052045274
NM_001267550.2(TTN):c.57545-2A>G
NM_001267550.2(TTN):c.57558del (p.Val19187fs) rs1576186406
NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter) rs267599044
NM_001267550.2(TTN):c.57710_57711del (p.Thr19237fs)
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.57746_57749del (p.Ile19249fs)
NM_001267550.2(TTN):c.57748C>T (p.Gln19250Ter)
NM_001267550.2(TTN):c.57854del (p.Pro19285fs)
NM_001267550.2(TTN):c.57897del (p.Asn19299fs) rs2051003587
NM_001267550.2(TTN):c.58033del (p.Thr19345fs) rs2154187247
NM_001267550.2(TTN):c.58095dup (p.Gly19366fs)
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
NM_001267550.2(TTN):c.58151-2A>G rs2154187087
NM_001267550.2(TTN):c.58176del (p.Phe19392fs)
NM_001267550.2(TTN):c.58208del (p.Ala19403fs) rs2154187038
NM_001267550.2(TTN):c.58228del (p.Tyr19410fs)
NM_001267550.2(TTN):c.58244del (p.Lys19415fs)
NM_001267550.2(TTN):c.58252del (p.Val19418fs)
NM_001267550.2(TTN):c.58258del (p.Trp19420fs) rs2050888713
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter) rs869025544
NM_001267550.2(TTN):c.58260G>A (p.Trp19420Ter)
NM_001267550.2(TTN):c.58304_58317del (p.Ile19435fs) rs2154186968
NM_001267550.2(TTN):c.58327del (p.Ala19443fs)
NM_001267550.2(TTN):c.58388del (p.Asn19463fs) rs2050854171
NM_001267550.2(TTN):c.58390del (p.Ser19464fs) rs2154186900
NM_001267550.2(TTN):c.58413_58414del (p.Phe19471fs) rs2154186876
NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)
NM_001267550.2(TTN):c.58432+2T>C rs796197320
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter) rs1195475569
NM_001267550.2(TTN):c.58568del (p.Gly19523fs) rs1553650442
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter) rs2154186640
NM_001267550.2(TTN):c.58620del (p.Val19541fs) rs1576147786
NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)
NM_001267550.2(TTN):c.58850del (p.Lys19617fs) rs2050657361
NM_001267550.2(TTN):c.58858_58859del (p.Thr19620fs) rs2154186303
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter) rs1553649122
NM_001267550.2(TTN):c.59109_59112dup (p.Arg19705fs) rs1553648246
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_001267550.2(TTN):c.59132del (p.Lys19711fs)
NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)
NM_001267550.2(TTN):c.59174_59175del (p.Glu19725fs)
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.59201dup (p.Pro19734_Glu19735insTer) rs2154185983
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59397dup (p.Val19800fs)
NM_001267550.2(TTN):c.59402del (p.Gly19801fs) rs1064793367
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs) rs755261062
NM_001267550.2(TTN):c.59451dup (p.Val19818fs)
NM_001267550.2(TTN):c.59458del (p.Trp19820fs)
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs) rs2154185712
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer) rs1064792914
NM_001267550.2(TTN):c.59535del (p.Asn19846fs) rs1559602980
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs) rs2154185645
NM_001267550.2(TTN):c.59583_59599dup (p.Thr19867fs) rs2154185625
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs) rs2154185622
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs) rs878854322
NM_001267550.2(TTN):c.59730del (p.Asn19911fs)
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
NM_001267550.2(TTN):c.59802del (p.Ser19935fs)
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter) rs1413760246
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59903del (p.Pro19968fs) rs2154185335
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs) rs2050313754
NM_001267550.2(TTN):c.59917del (p.Asp19973fs) rs2050315855
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter) rs2154185221
NM_001267550.2(TTN):c.59997del (p.Asn19999fs) rs2154185219
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter) rs794729277
NM_001267550.2(TTN):c.60258del (p.Gly20087fs) rs2154184977
NM_001267550.2(TTN):c.60263_60264del (p.Leu20088fs) rs1559592415
NM_001267550.2(TTN):c.60284_60285del (p.Thr20095fs) rs1553644362
NM_001267550.2(TTN):c.60348del (p.Ser20117fs)
NM_001267550.2(TTN):c.60433_60434dup (p.Asp20145fs)
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter) rs1553644047
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.60493dup (p.His20165fs)
NM_001267550.2(TTN):c.60565_60566del (p.Met20189fs)
NM_001267550.2(TTN):c.60581del (p.Gln20194fs) rs1559589139
NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer) rs1060500442
NM_001267550.2(TTN):c.60760del (p.Val20254fs) rs2050086519
NM_001267550.2(TTN):c.60801_60802insTAAA (p.Lys20268Ter)
NM_001267550.2(TTN):c.60831del (p.Lys20277fs) rs2050068938
NM_001267550.2(TTN):c.60853dup (p.Glu20285fs) rs2154184643
NM_001267550.2(TTN):c.60865dup (p.Thr20289fs) rs1553643260
NM_001267550.2(TTN):c.60918C>G (p.Tyr20306Ter)
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.60961_60962dup (p.Asn20321fs)
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs) rs2154184570
NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)
NM_001267550.2(TTN):c.61024_61028del (p.Tyr20341_Glu20342insTer)
NM_001267550.2(TTN):c.61079del (p.Ser20360fs)
NM_001267550.2(TTN):c.61269del (p.Asp20424fs) rs1060500420
NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)
NM_001267550.2(TTN):c.61297del (p.Arg20433fs) rs2154184377
NM_001267550.2(TTN):c.61323dup (p.Glu20442Ter)
NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter) rs751412533
NM_001267550.2(TTN):c.61367del (p.Gly20456fs) rs2154184341
NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter) rs2049944547
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs) rs2154184320
NM_001267550.2(TTN):c.61515del (p.Glu20505fs) rs2154184240
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
NM_001267550.2(TTN):c.61655del (p.Lys20552fs)
NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter) rs1114167324
NM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs) rs1264036094
NM_001267550.2(TTN):c.61765dup (p.Ser20589fs)
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs) rs2154184083
NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter) rs1576077909
NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter) rs2154184066
NM_001267550.2(TTN):c.61977del (p.Ile20660fs) rs2154183984
NM_001267550.2(TTN):c.62075del (p.Pro20692fs) rs2154183927
NM_001267550.2(TTN):c.62109T>A (p.Tyr20703Ter) rs2154183898
NM_001267550.2(TTN):c.62128_63102delinsGA (p.Lys20710fs) rs2049572412
NM_001267550.2(TTN):c.62129dup (p.Ser20712fs) rs886039913
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62251dup (p.Glu20751fs)
NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)
NM_001267550.2(TTN):c.62337_62340del (p.Thr20780fs) rs2154183737
NM_001267550.2(TTN):c.62374_62378del (p.Ala20791_Gly20792insTer)
NM_001267550.2(TTN):c.62408G>A (p.Trp20803Ter)
NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)
NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)
NM_001267550.2(TTN):c.62493dup (p.Thr20832fs)
NM_001267550.2(TTN):c.62519dup (p.Gly20840_Lys20841insTer)
NM_001267550.2(TTN):c.62525_62526del (p.Tyr20842fs)
NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter) rs2049710031
NM_001267550.2(TTN):c.62530_62531del (p.Val20844fs)
NM_001267550.2(TTN):c.62533_62534insGTTGGAAGTTA (p.Thr20845fs)
NM_001267550.2(TTN):c.62597del (p.Gly20866fs) rs1576066084
NM_001267550.2(TTN):c.62642_62648del (p.Cys20881fs)
NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter) rs2049677875
NM_001267550.2(TTN):c.62708_62709insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAA (p.Lys20903_Cys20904insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.62742T>G (p.Tyr20914Ter)
NM_001267550.2(TTN):c.62854del (p.Ser20952fs) rs2154183406
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.62911G>T (p.Glu20971Ter)
NM_001267550.2(TTN):c.62922del (p.Lys20974_Val20975insTer) rs2154183349
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter) rs1306891128
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs)
NM_001267550.2(TTN):c.62978dup (p.Ser20994fs) rs2154183322
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63081dup (p.Leu21028fs)
NM_001267550.2(TTN):c.63094del (p.His21032fs)
NM_001267550.2(TTN):c.63096del (p.His21032fs)
NM_001267550.2(TTN):c.63234del (p.Lys21078fs)
NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter) rs1553638539
NM_001267550.2(TTN):c.63270T>G (p.Tyr21090Ter) rs878991431
NM_001267550.2(TTN):c.63303_63304delinsTT (p.Glu21102Ter)
NM_001267550.2(TTN):c.63367dup (p.Ala21123fs) rs2154182688
NM_001267550.2(TTN):c.63413_63420dup (p.Tyr21141fs)
NM_001267550.2(TTN):c.63422_63423dup (p.Glu21142fs)
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer) rs2154182600
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs) rs2154182483
NM_001267550.2(TTN):c.63546dup (p.Leu21183fs)
NM_001267550.2(TTN):c.63577dup (p.Arg21193fs) rs2154182439
NM_001267550.2(TTN):c.63578del (p.Arg21193fs) rs2154182432
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001267550.2(TTN):c.63675del (p.Asp21226fs) rs2154182357
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter) rs2049307995
NM_001267550.2(TTN):c.63747del (p.Asn21250fs)
NM_001267550.2(TTN):c.63754del (p.Ala21252fs) rs2154182312
NM_001267550.2(TTN):c.63793+1G>A rs2154182296
NM_001267550.2(TTN):c.63794-1G>A rs2049262622
NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)
NM_001267550.2(TTN):c.63851_63864del (p.His21284fs)
NM_001267550.2(TTN):c.63879del (p.Asp21293fs) rs2154182119
NM_001267550.2(TTN):c.63982del (p.Thr21328fs)
NM_001267550.2(TTN):c.64033G>T (p.Glu21345Ter)
NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)
NM_001267550.2(TTN):c.64093+1G>A
NM_001267550.2(TTN):c.64094-1G>C rs2154181635
NM_001267550.2(TTN):c.64094-2A>G rs876657667
NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter) rs2049052530
NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter) rs1576015923
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter) rs794729329
NM_001267550.2(TTN):c.64287del (p.Gly21430fs) rs2049038862
NM_001267550.2(TTN):c.64297del (p.Glu21433fs) rs1576014780
NM_001267550.2(TTN):c.64314del (p.Lys21438fs) rs2154181503
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) rs1576014673
NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter) rs777425925
NM_001267550.2(TTN):c.64396+2T>C rs2154181458
NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)
NM_001267550.2(TTN):c.64427_64428dup (p.Thr21477Ter) rs1559536156
NM_001267550.2(TTN):c.64443dup (p.Lys21482fs)
NM_001267550.2(TTN):c.64506dup (p.Gly21503fs)
NM_001267550.2(TTN):c.64516G>T (p.Glu21506Ter)
NM_001267550.2(TTN):c.64518del (p.Val21507fs) rs2154180376
NM_001267550.2(TTN):c.64577dup (p.Asp21528fs) rs2048654277
NM_001267550.2(TTN):c.64583_64592dup (p.Arg21531_Lys21532insCysAspTer) rs2154180338
NM_001267550.2(TTN):c.64594_64601del (p.Lys21532fs)
NM_001267550.2(TTN):c.64655_64659dup (p.Val21554fs)
NM_001267550.2(TTN):c.64672+1G>A rs2048635392
NM_001267550.2(TTN):c.64672+2T>A
NM_001267550.2(TTN):c.64672+2T>C rs2154180290
NM_001267550.2(TTN):c.64672+2dup
NM_001267550.2(TTN):c.64673-1G>A rs2154180190
NM_001267550.2(TTN):c.64673-2A>G rs2154180194
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.64688_64689insA (p.Gln21564fs) rs2154180169
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs) rs774395395
NM_001267550.2(TTN):c.64708del (p.Ser21570fs) rs2048590205
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter) rs1057523344
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
NM_001267550.2(TTN):c.64843dup (p.Thr21615fs) rs2048567077
NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter) rs1432889079
NM_001267550.2(TTN):c.64973-1G>C rs2154179915
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.65087_65100del (p.Ile21696fs)
NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)
NM_001267550.2(TTN):c.65212_65213del (p.Asn21738fs)
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter) rs1575960580
NM_001267550.2(TTN):c.65505del (p.Ile21835fs) rs1559521007
NM_001267550.2(TTN):c.65531del (p.Pro21844fs) rs794729331
NM_001267550.2(TTN):c.65573dup (p.Asn21858fs)
NM_001267550.2(TTN):c.65575+1del rs2154179114
NM_001267550.2(TTN):c.65595del (p.Ser21866fs)
NM_001267550.2(TTN):c.65657_65658del (p.Thr21886fs) rs2048154655
NM_001267550.2(TTN):c.65661_65677del (p.Phe21888fs) rs2048149402
NM_001267550.2(TTN):c.65755_65756del (p.Cys21919fs) rs1553629143
NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs) rs1553629105
NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)
NM_001267550.2(TTN):c.65863+2T>A
NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter) rs1229556495
NM_001267550.2(TTN):c.66039del (p.Ser22014fs) rs1553628052
NM_001267550.2(TTN):c.66059_66060insAT (p.Ile22021fs) rs2047981524
NM_001267550.2(TTN):c.66062_66063del (p.Ile22021fs)
NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter) rs2047976018
NM_001267550.2(TTN):c.66160+1G>T rs2047961752
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.66239_66242dup (p.Asp22082fs) rs2047913995
NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)
NM_001267550.2(TTN):c.66306G>A (p.Trp22102Ter)
NM_001267550.2(TTN):c.66319del (p.Arg22107fs) rs2047900528
NM_001267550.2(TTN):c.66361C>T (p.Gln22121Ter)
NM_001267550.2(TTN):c.66378dup (p.Glu22127Ter)
NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)
NM_001267550.2(TTN):c.66464-2A>G rs1575921187
NM_001267550.2(TTN):c.66492del (p.Val22165fs)
NM_001267550.2(TTN):c.66524dup (p.Ser22176fs)
NM_001267550.2(TTN):c.66576dup (p.Val22193fs) rs2154177519
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) rs397517664
NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter) rs757047748
NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)
NM_001267550.2(TTN):c.66682dup (p.Tyr22228fs) rs2154177424
NM_001267550.2(TTN):c.66710del (p.Lys22237fs) rs1060500479
NM_001267550.2(TTN):c.66770-2A>C rs1553624468
NM_001267550.2(TTN):c.66776del (p.Pro22259fs)
NM_001267550.2(TTN):c.66793dup (p.Ala22265fs) rs2047469522
NM_001267550.2(TTN):c.66800T>A (p.Leu22267Ter)
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs) rs2154176484
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
NM_001267550.2(TTN):c.66858dup (p.Gly22287fs)
NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)
NM_001267550.2(TTN):c.66910_66911del (p.Asp22304fs)
NM_001267550.2(TTN):c.66931_66932del (p.Lys22311fs) rs2154176398
NM_001267550.2(TTN):c.66937del (p.Thr22313fs)
NM_001267550.2(TTN):c.66941_66944dup (p.Phe22315fs) rs2047435382
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter) rs2047426908
NM_001267550.2(TTN):c.66985dup (p.Ala22329fs)
NM_001267550.2(TTN):c.67057+1G>A
NM_001267550.2(TTN):c.67058-1G>A
NM_001267550.2(TTN):c.67070_67071insTGTGACTGTATCCAGATAC (p.Pro22358fs) rs2047381754
NM_001267550.2(TTN):c.67070del (p.Pro22357fs)
NM_001267550.2(TTN):c.67081dup (p.Val22361fs) rs2047380262
NM_001267550.2(TTN):c.67109_67110del (p.Ser22370fs)
NM_001267550.2(TTN):c.67115_67116del (p.Tyr22372fs) rs2154176111
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter) rs2154176072
NM_001267550.2(TTN):c.67191del (p.Arg22398fs)
NM_001267550.2(TTN):c.67266dup (p.Ser22423fs) rs2154175989
NM_001267550.2(TTN):c.67279del (p.Arg22427fs) rs2154175979
NM_001267550.2(TTN):c.67297G>T (p.Glu22433Ter)
NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter) rs2047280731
NM_001267550.2(TTN):c.67421del (p.Lys22474fs) rs794729332
NM_001267550.2(TTN):c.67446del (p.Ile22483fs) rs2154175760
NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.67555del (p.Tyr22519fs) rs2154175699
NM_001267550.2(TTN):c.67556_67559dup (p.Phe22521fs) rs2154175692
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter) rs2047236705
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs) rs2154175675
NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)
NM_001267550.2(TTN):c.67705_67706insLINE1
NM_001267550.2(TTN):c.67750del (p.Trp22584fs)
NM_001267550.2(TTN):c.67762del (p.Glu22588fs) rs2154175340
NM_001267550.2(TTN):c.67794del (p.Ser22598fs)
NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)
NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter) rs2154175288
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter) rs1553621179
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
NM_001267550.2(TTN):c.67901_67904dup (p.Ile22636fs)
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)
NM_001267550.2(TTN):c.68022dup (p.Glu22675Ter)
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer) rs2154175051
NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)
NM_001267550.2(TTN):c.68224+1G>A rs754250350
NM_001267550.2(TTN):c.68225-1G>A
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)
NM_001267550.2(TTN):c.68269del (p.His22757fs) rs2154174822
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs) rs1575853060
NM_001267550.2(TTN):c.68336_68340dup (p.Glu22781fs)
NM_001267550.2(TTN):c.68349_68356del (p.Glu22784fs) rs2154174313
NM_001267550.2(TTN):c.68410_68411insTCGGTTA (p.Lys22804delinsIleGlyTer) rs2154174273
NM_001267550.2(TTN):c.68427del (p.Glu22810fs)
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) rs200797552
NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)
NM_001267550.2(TTN):c.68508dup (p.Val22837fs) rs1064793845
NM_001267550.2(TTN):c.68575_68576dup (p.Ile22861fs)
NM_001267550.2(TTN):c.68606del (p.Gly22869fs)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.68654dup (p.Lys22886fs) rs2154174012
NM_001267550.2(TTN):c.68663G>A (p.Trp22888Ter) rs2154174003
NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter) rs2046761831
NM_001267550.2(TTN):c.68759del (p.Asn22920fs)
NM_001267550.2(TTN):c.68768del (p.Gly22923fs)
NM_001267550.2(TTN):c.68800del (p.Thr22934fs)
NM_001267550.2(TTN):c.68807_68810dup (p.Lys22938fs) rs2046739414
NM_001267550.2(TTN):c.68824+1del
NM_001267550.2(TTN):c.68854del (p.Thr22951_Ile22952insTer)
NM_001267550.2(TTN):c.68859_68862dup (p.Gly22955fs) rs2154173774
NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter) rs2154173767
NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs) rs1575832346
NM_001267550.2(TTN):c.68934dup (p.Ser22979fs)
NM_001267550.2(TTN):c.68936C>A (p.Ser22979Ter) rs2154173745
NM_001267550.2(TTN):c.68941del (p.Trp22981fs) rs1575831755
NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter) rs1553617378
NM_001267550.2(TTN):c.68992del (p.Ser22998fs)
NM_001267550.2(TTN):c.68995del (p.Thr22999fs) rs1064796389
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs) rs1559469421
NM_001267550.2(TTN):c.69105_69108dup (p.Val23037fs)
NM_001267550.2(TTN):c.69131del (p.Pro23044fs) rs2154173603
NM_001267550.2(TTN):c.69186_69187del (p.Pro23063fs)
NM_001267550.2(TTN):c.69214del (p.Ile23072fs)
NM_001267550.2(TTN):c.69234_69238del (p.Lys23079fs) rs2046600751
NM_001267550.2(TTN):c.69241_69242del (p.Glu23081fs) rs1575826940
NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter) rs794729281
NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs) rs1553616622
NM_001267550.2(TTN):c.69257del (p.Leu23086fs)
NM_001267550.2(TTN):c.69325G>T (p.Glu23109Ter)
NM_001267550.2(TTN):c.69340del (p.Val23114fs) rs2046581341
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
NM_001267550.2(TTN):c.69387del (p.Glu23129fs) rs2154173437
NM_001267550.2(TTN):c.69412+1G>A rs869312074
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs) rs1247353236
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs) rs2046539116
NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter) rs2154173285
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs) rs869312113
NM_001267550.2(TTN):c.69497dup (p.Asp23166fs)
NM_001267550.2(TTN):c.69513del (p.Thr23172fs)
NM_001267550.2(TTN):c.69521_69525dup (p.Val23176fs) rs2154173232
NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter) rs1575821175
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs) rs2046499843
NM_001267550.2(TTN):c.69584_69585insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACACCAGTTTC (p.Ser23195_Asp23196insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)
NM_001267550.2(TTN):c.69613_69616dup (p.Glu23206fs) rs2154173163
NM_001267550.2(TTN):c.69759del (p.Lys23254fs)
NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter) rs1213132001
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter) rs869067204
NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)
NM_001267550.2(TTN):c.69866_69869dup (p.Asp23290fs) rs2154172862
NM_001267550.2(TTN):c.69871del (p.Thr23291fs)
NM_001267550.2(TTN):c.6989_6998del (p.Lys2330fs)
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer) rs2154172827
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.69937_69938insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAATACA (p.Tyr23312_Asn23313insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysTyr)
NM_001267550.2(TTN):c.69968del (p.Gly23323fs)
NM_001267550.2(TTN):c.69972del (p.Glu23326fs)
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
NM_001267550.2(TTN):c.70025del (p.Pro23342fs)
NM_001267550.2(TTN):c.70032dup (p.Glu23345Ter)
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.70115del (p.Pro23372fs)
NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter) rs1553614378
NM_001267550.2(TTN):c.70222del (p.Tyr23408fs) rs2154172616
NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter) rs908321623
NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)
NM_001267550.2(TTN):c.70346del (p.Lys23449fs) rs2154172536
NM_001267550.2(TTN):c.70379_70382dup (p.Gly23463fs) rs2154172514
NM_001267550.2(TTN):c.70388del (p.Gly23463fs) rs2154172507
NM_001267550.2(TTN):c.70401_70402dup (p.Thr23468fs)
NM_001267550.2(TTN):c.70437del (p.Lys23480fs) rs2154172462
NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter) rs2154172442
NM_001267550.2(TTN):c.70482_70483del (p.Tyr23494_Lys23495delinsTer)
NM_001267550.2(TTN):c.70491del (p.Gly23498fs) rs2154172422
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter) rs1709809170
NM_001267550.2(TTN):c.70524_70525del (p.Arg23508fs)
NM_001267550.2(TTN):c.7057+2T>C rs2154345049
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs) rs1709775754
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs) rs2154172318
NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)
NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter) rs1559449398
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs) rs1559448864
NM_001267550.2(TTN):c.70785_70788dup (p.Glu23597delinsAsnTer) rs2154172210
NM_001267550.2(TTN):c.70814_70815insTT (p.Val23605_Met23606insTer) rs1709673176
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter) rs1575799625
NM_001267550.2(TTN):c.70897dup (p.Leu23633fs) rs1709631095
NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)
NM_001267550.2(TTN):c.70918C>T (p.Gln23640Ter)
NM_001267550.2(TTN):c.70920_70923dup (p.Leu23642fs)
NM_001267550.2(TTN):c.70922_70923delinsG (p.Lys23641fs) rs1709617800
NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter) rs2154172066
NM_001267550.2(TTN):c.70957del (p.Val23653fs) rs2154172050
NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter) rs1553612321
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs) rs1709577304
NM_001267550.2(TTN):c.71035_71038del (p.Arg23679fs) rs1575797171
NM_001267550.2(TTN):c.71045_71046del (p.Asn23681_Phe23682insTer) rs2154171990
NM_001267550.2(TTN):c.71126_71127delinsA (p.Arg23709fs) rs1709548356
NM_001267550.2(TTN):c.71146_71156del (p.Gly23716fs) rs2154171911
NM_001267550.2(TTN):c.71201_71204del (p.Ile23734fs) rs2154171881
NM_001267550.2(TTN):c.71237del (p.Phe23746fs)
NM_001267550.2(TTN):c.71242del (p.Trp23748fs) rs1060500514
NM_001267550.2(TTN):c.71244G>A (p.Trp23748Ter)
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71351_71352insGGTA (p.Thr23785fs) rs2154171770
NM_001267550.2(TTN):c.71356dup (p.Tyr23786fs) rs2154171765
NM_001267550.2(TTN):c.71365dup (p.Thr23789fs)
NM_001267550.2(TTN):c.71378_71385del (p.Thr23793fs) rs1709461632
NM_001267550.2(TTN):c.71407del (p.Ala23803fs)
NM_001267550.2(TTN):c.71476del (p.Val23826fs)
NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)
NM_001267550.2(TTN):c.71542_71564dup (p.Ser23856fs) rs2154171645
NM_001267550.2(TTN):c.71550del (p.Leu23851fs)
NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter) rs794729381
NM_001267550.2(TTN):c.71619G>A (p.Trp23873Ter)
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer) rs1709360511
NM_001267550.2(TTN):c.71690_71691dup (p.Glu23898fs) rs2154171550
NM_001267550.2(TTN):c.71835G>A (p.Trp23945Ter) rs1217858818
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs) rs1254650118
NM_001267550.2(TTN):c.71869del (p.Thr23957fs)
NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)
NM_001267550.2(TTN):c.71990del (p.Phe23997fs)
NM_001267550.2(TTN):c.72025_72035del (p.Ile24008_Ser24009insTer)
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter) rs1709195189
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs) rs2154171220
NM_001267550.2(TTN):c.72226_72229dup (p.Glu24077fs)
NM_001267550.2(TTN):c.72339_72340del (p.Ile24114fs) rs1559429489
NM_001267550.2(TTN):c.72356_72371dup (p.Gly24124_Pro24125insSerTer)
NM_001267550.2(TTN):c.72397del (p.Thr24133fs) rs2154171047
NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)
NM_001267550.2(TTN):c.72433_72434insGA (p.Phe24145Ter) rs1709055431
NM_001267550.2(TTN):c.72441_72442del (p.Leu24148fs)
NM_001267550.2(TTN):c.72509G>A (p.Trp24170Ter) rs2154170981
NM_001267550.2(TTN):c.72542dup (p.Leu24182fs) rs1709014153
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter) rs2154170941
NM_001267550.2(TTN):c.72612_72616del (p.Val24205fs) rs2154170904
NM_001267550.2(TTN):c.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs)
NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)
NM_001267550.2(TTN):c.72668dup (p.Pro24223_Asp24224insTer)
NM_001267550.2(TTN):c.72688G>T (p.Glu24230Ter) rs2154170836
NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter) rs1708937897
NM_001267550.2(TTN):c.72756del (p.Ser24252fs)
NM_001267550.2(TTN):c.72767dup (p.Asn24256fs)
NM_001267550.2(TTN):c.72771dup (p.Ile24258fs)
NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)
NM_001267550.2(TTN):c.72826del (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.72839T>G (p.Leu24280Ter)
NM_001267550.2(TTN):c.72867del (p.Gly24290fs) rs2154170719
NM_001267550.2(TTN):c.72873del (p.His24291fs) rs1575772360
NM_001267550.2(TTN):c.72935_72939del (p.Ser24312fs) rs2154170669
NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter) rs879087983
NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs) rs1064793876
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer) rs1708864326
NM_001267550.2(TTN):c.73044_73047dup (p.Asp24350delinsLeuTer)
NM_001267550.2(TTN):c.73046_73047del (p.Ile24348_Tyr24349insTer) rs1708834541
NM_001267550.2(TTN):c.73047T>G (p.Tyr24349Ter) rs2154170589
NM_001267550.2(TTN):c.73075_73076dup (p.Met24359fs) rs1575769723
NM_001267550.2(TTN):c.73105_73115del (p.Glu24369fs) rs2154170535
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) rs869312115
NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)
NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)
NM_001267550.2(TTN):c.73156_73159dup (p.Thr24387fs) rs2154170500
NM_001267550.2(TTN):c.73175_73178dup (p.Glu24394fs) rs2154170480
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
NM_001267550.2(TTN):c.73218_73222dup (p.Gly24408fs)
NM_001267550.2(TTN):c.73244del (p.Gly24415fs) rs1708759700
NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter) rs373773552
NM_001267550.2(TTN):c.73324_73328delinsC (p.Ala24442fs) rs1553607562
NM_001267550.2(TTN):c.7332dup (p.Val2445fs)
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs) rs2154170352
NM_001267550.2(TTN):c.73347del (p.Phe24449fs) rs2154170352
NM_001267550.2(TTN):c.73348del (p.Val24450fs)
NM_001267550.2(TTN):c.73387del (p.Ala24463fs) rs1553607425
NM_001267550.2(TTN):c.73411_73414del (p.Asp24471fs) rs1708673550
NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter) rs760487688
NM_001267550.2(TTN):c.73508del (p.Asn24503fs) rs886038839
NM_001267550.2(TTN):c.73522A>T (p.Lys24508Ter)
NM_001267550.2(TTN):c.73543dup (p.Arg24515fs) rs2154170227
NM_001267550.2(TTN):c.73557_73558dup (p.Pro24520fs) rs1559415816
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.73568dup (p.Gln24524fs)
NM_001267550.2(TTN):c.73581_73585del (p.Val24528fs) rs1708609129
NM_001267550.2(TTN):c.73619G>A (p.Trp24540Ter)
NM_001267550.2(TTN):c.73620G>A (p.Trp24540Ter) rs2154170160
NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)
NM_001267550.2(TTN):c.73687A>T (p.Arg24563Ter)
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter) rs753105114
NM_001267550.2(TTN):c.73735_73738del (p.Trp24578_Lys24579insTer)
NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)
NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter) rs1708526179
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs) rs1708504899
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter) rs1708468046
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter) rs2154169928
NM_001267550.2(TTN):c.73974_73978del (p.Lys24658_Gly24659insTer) rs2154169901
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs)
NM_001267550.2(TTN):c.73998T>A (p.Cys24666Ter)
NM_001267550.2(TTN):c.74015del (p.Thr24672fs)
NM_001267550.2(TTN):c.74033_74036del (p.Gly24678fs) rs2154169838
NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter) rs1575756767
NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)
NM_001267550.2(TTN):c.74099_74124del (p.Pro24700fs) rs1708368133
NM_001267550.2(TTN):c.74202dup (p.Val24735fs) rs2154169694
NM_001267550.2(TTN):c.74258del (p.Asn24753fs) rs2154169665
NM_001267550.2(TTN):c.74358del (p.His24785_Tyr24786insTer) rs1708277443
NM_001267550.2(TTN):c.74367del (p.Lys24789fs) rs2154169575
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74374_74377dup (p.Ser24793Ter)
NM_001267550.2(TTN):c.74452dup (p.Met24818fs) rs2154169509
NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter) rs1708235406
NM_001267550.2(TTN):c.74532del (p.Asn24843_Tyr24844insTer) rs2154169439
NM_001267550.2(TTN):c.74536del (p.Val24846fs) rs1553605154
NM_001267550.2(TTN):c.74569C>T (p.Gln24857Ter)
NM_001267550.2(TTN):c.74585del (p.Thr24862fs)
NM_001267550.2(TTN):c.74608del (p.Ala24870fs) rs878854332
NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter) rs1553604869
NM_001267550.2(TTN):c.74677_74678dup (p.Tyr24894fs) rs2154169318
NM_001267550.2(TTN):c.74716_74719del (p.Phe24906fs) rs2154169290
NM_001267550.2(TTN):c.74848del (p.Arg24950fs) rs2154169198
NM_001267550.2(TTN):c.74852del (p.Asn24951fs)
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs) rs1553604316
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718
NM_001267550.2(TTN):c.74995_74996del (p.Glu24999fs) rs1708041287
NM_001267550.2(TTN):c.75080G>A (p.Trp25027Ter)
NM_001267550.2(TTN):c.75106_75110del (p.Ser25036fs) rs2154169014
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75139G>T (p.Glu25047Ter)
NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter) rs770754919
NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter) rs750699540
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.75268_75274del (p.Phe25090fs) rs2154168865
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75333_75334dup (p.Ser25112fs) rs2154168819
NM_001267550.2(TTN):c.75354del (p.Asp25119fs) rs1559394355
NM_001267550.2(TTN):c.75386dup (p.Lys25130fs) rs1707893646
NM_001267550.2(TTN):c.75448C>T (p.Gln25150Ter)
NM_001267550.2(TTN):c.75458_75459dup (p.Asn25154fs)
NM_001267550.2(TTN):c.75482dup (p.Ser25162fs)
NM_001267550.2(TTN):c.75589del (p.Thr25196_Val25197insTer)
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.75663dup (p.Cys25222fs)
NM_001267550.2(TTN):c.75741del (p.Ser25248fs)
NM_001267550.2(TTN):c.75865G>T (p.Glu25289Ter)
NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)
NM_001267550.2(TTN):c.75898_75901dup (p.Pro25301fs)
NM_001267550.2(TTN):c.75900del (p.Pro25301fs)
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_001267550.2(TTN):c.75984_75985insTACCA (p.Ala25329fs) rs1707618662
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76134_76135del (p.Arg25378fs) rs2154168209
NM_001267550.2(TTN):c.76155_76158dup (p.Leu25387fs)
NM_001267550.2(TTN):c.76210del (p.Tyr25404fs)
NM_001267550.2(TTN):c.76226del (p.Pro25409fs) rs2154168142
NM_001267550.2(TTN):c.76240dup (p.Val25414fs) rs1707514832
NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter) rs1707503235
NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter) rs1064794060
NM_001267550.2(TTN):c.76332dup (p.Cys25445fs) rs1707471794
NM_001267550.2(TTN):c.76342_76345del (p.Ser25448fs)
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs) rs2154168044
NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)
NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter) rs2154168035
NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer) rs727504483
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs) rs1707425522
NM_001267550.2(TTN):c.76507del (p.Glu25503fs) rs2154167928
NM_001267550.2(TTN):c.76513_76514dup (p.Leu25505fs)
NM_001267550.2(TTN):c.76540del (p.Asp25513_Leu25514insTer) rs1559382080
NM_001267550.2(TTN):c.76721dup (p.Tyr25574Ter)
NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter) rs55696153
NM_001267550.2(TTN):c.76724_76727dup (p.Ser25576delinsArgTer) rs2154167762
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter) rs1707280155
NM_001267550.2(TTN):c.76743dup (p.Thr25582fs) rs2154167743
NM_001267550.2(TTN):c.76748del (p.Thr25582_Leu25583insTer)
NM_001267550.2(TTN):c.76807dup (p.Ser25603fs) rs2154167705
NM_001267550.2(TTN):c.76846_76847del (p.Asp25616fs) rs1559378965
NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter) rs756552975
NM_001267550.2(TTN):c.76945del (p.Ala25649fs) rs1707205123
NM_001267550.2(TTN):c.76970del (p.Lys25657fs)
NM_001267550.2(TTN):c.76970dup (p.Asn25658fs)
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
NM_001267550.2(TTN):c.77014dup (p.Tyr25672fs) rs2154167532
NM_001267550.2(TTN):c.77026del (p.Thr25676fs) rs2154167529
NM_001267550.2(TTN):c.77046dup (p.Ile25683fs)
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer) rs1466647934
NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter) rs1707088255
NM_001267550.2(TTN):c.77177del (p.Gly25726fs) rs794729344
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) rs765997807
NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter) rs1575714442
NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter) rs2154167332
NM_001267550.2(TTN):c.77299dup (p.Tyr25767fs)
NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter) rs1553600058
NM_001267550.2(TTN):c.77404_77405insA (p.Pro25802fs)
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter) rs794729287
NM_001267550.2(TTN):c.77452del (p.Glu25818fs)
NM_001267550.2(TTN):c.77510del (p.Pro25837fs)
NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)
NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)
NM_001267550.2(TTN):c.77610del (p.Thr25871fs) rs1706840484
NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)
NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)
NM_001267550.2(TTN):c.77843del (p.Thr25948fs)
NM_001267550.2(TTN):c.77853del (p.Lys25951_Val25952insTer)
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
NM_001267550.2(TTN):c.77902G>T (p.Glu25968Ter)
NM_001267550.2(TTN):c.77906dup (p.Asn25969fs) rs1559368995
NM_001267550.2(TTN):c.77907_77908del (p.Asn25969fs) rs2154166826
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs) rs1553597801
NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter) rs1553597198
NM_001267550.2(TTN):c.78097_78098del (p.Asn26033fs)
NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)
NM_001267550.2(TTN):c.78153del (p.Ala26052fs) rs2154166670
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter) rs869312057
NM_001267550.2(TTN):c.78192_78193del (p.Arg26064fs)
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78231_78234del (p.Ser26077fs)
NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter) rs747203787
NM_001267550.2(TTN):c.78278_78279del (p.Gly26093fs)
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter) rs1559364892
NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter) rs2154166540
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter) rs1064793668
NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter) rs1559362000
NM_001267550.2(TTN):c.78656del (p.Gly26219fs) rs1706331057
NM_001267550.2(TTN):c.78689del (p.Gly26230fs) rs2154166282
NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter) rs267599036
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.78861_78864del (p.Gly26288fs)
NM_001267550.2(TTN):c.78924G>A (p.Trp26308Ter)
NM_001267550.2(TTN):c.79006dup (p.Val26336fs)
NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)
NM_001267550.2(TTN):c.79041del (p.Val26348fs) rs1706189208
NM_001267550.2(TTN):c.79137_79138dup (p.Met26380fs) rs2154165980
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter) rs1131691944
NM_001267550.2(TTN):c.79175del (p.Ser26392fs) rs1706104379
NM_001267550.2(TTN):c.79185_79186insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTGGAAGTC (p.Val26395_Thr26396insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysSerLeuGluVal)
NM_001267550.2(TTN):c.79199_79200del (p.Lys26400fs) rs2154165935
NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter) rs1706063163
NM_001267550.2(TTN):c.79278del (p.Asp26427fs) rs1064796574
NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter) rs1559355268
NM_001267550.2(TTN):c.79305del (p.Lys26435fs) rs2154165874
NM_001267550.2(TTN):c.79368_79369del (p.Glu26456_Tyr26457insTer)
NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter) rs1706021639
NM_001267550.2(TTN):c.79427_79428dup (p.Val26477fs)
NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)
NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter) rs1575685597
NM_001267550.2(TTN):c.79602G>A (p.Trp26534Ter)
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter) rs1064793911
NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)
NM_001267550.2(TTN):c.79687dup (p.Val26563fs)
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter) rs1705879851
NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter) rs1064794023
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer) rs2154165475
NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter) rs773632027
NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs) rs794729347
NM_001267550.2(TTN):c.79844_79848del (p.Pro26615fs)
NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter) rs1705798888
NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter) rs1705781269
NM_001267550.2(TTN):c.79917del (p.Ile26639fs) rs1705777731
NM_001267550.2(TTN):c.79924G>T (p.Gly26642Ter)
NM_001267550.2(TTN):c.80000del (p.Asn26667fs)
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs) rs1553586069
NM_001267550.2(TTN):c.80082_80086del (p.Val26695fs) rs2154165293
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs) rs1705700724
NM_001267550.2(TTN):c.80169dup (p.Glu26724Ter) rs1705682545
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer) rs2154165199
NM_001267550.2(TTN):c.80218del (p.Thr26740fs)
NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter) rs895018646
NM_001267550.2(TTN):c.80268_80269del (p.Arg26756fs) rs2154165154
NM_001267550.2(TTN):c.80361del (p.Thr26788fs)
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80386del (p.Ser26796fs) rs1651641615
NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter) rs759414143
NM_001267550.2(TTN):c.80458C>T (p.Gln26820Ter) rs2154164995
NM_001267550.2(TTN):c.80466dup (p.Gly26823fs)
NM_001267550.2(TTN):c.80478dup (p.Trp26827fs)
NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)
NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter) rs1575673206
NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter) rs1575673206
NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter) rs769878576
NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter) rs79926414
NM_001267550.2(TTN):c.80666del (p.Tyr26889fs) rs2154164836
NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs) rs1575670635
NM_001267550.2(TTN):c.80740dup (p.Val26914fs) rs2154164758
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs) rs2154164725
NM_001267550.2(TTN):c.80772_80773del (p.Arg26925fs)
NM_001267550.2(TTN):c.80792dup (p.Ala26932fs) rs2154164664
NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)
NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80927_80928del (p.Pro26976fs) rs2154164271
NM_001267550.2(TTN):c.80927del (p.Pro26976fs) rs2154164277
NM_001267550.2(TTN):c.80943dup (p.Phe26982fs)
NM_001267550.2(TTN):c.80950_80951del (p.Glu26984fs)
NM_001267550.2(TTN):c.80975dup (p.Ser26993fs)
NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)
NM_001267550.2(TTN):c.81096del (p.Lys27033_Ile27034insTer) rs2154163856
NM_001267550.2(TTN):c.81100_81103dup (p.Thr27035fs) rs1060500593
NM_001267550.2(TTN):c.81126del (p.Glu27042fs) rs1553579429
NM_001267550.2(TTN):c.81199C>T (p.Gln27067Ter)
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs) rs794729394
NM_001267550.2(TTN):c.81227_81233del (p.Pro27076fs)
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs) rs749610641
NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter) rs1705109191
NM_001267550.2(TTN):c.81259del (p.Asp27087fs) rs2154163570
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs) rs869312059
NM_001267550.2(TTN):c.81281dup (p.His27094fs)
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81323del (p.His27108fs) rs1575663530
NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter) rs794729292
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.81341del (p.Lys27114fs)
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)
NM_001267550.2(TTN):c.81372_81373del (p.Lys27124fs) rs2154163297
NM_001267550.2(TTN):c.81379del (p.Ile27127fs) rs2154163264
NM_001267550.2(TTN):c.81411del (p.Asp27138fs) rs2154163173
NM_001267550.2(TTN):c.81455_81456del (p.Ile27152fs)
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81557_81564del (p.Asn27186fs) rs2154162877
NM_001267550.2(TTN):c.81561_81562insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAACAATGTC (p.Val27187_Thr27188insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysArgAsnAsnVal) rs2154162886
NM_001267550.2(TTN):c.81573del (p.Lys27190_Trp27191insTer) rs2154162859
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
NM_001267550.2(TTN):c.81629_81632del (p.Lys27210fs)
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter) rs1559330805
NM_001267550.2(TTN):c.81718del (p.Arg27240fs) rs1575658959
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.81758del (p.Asn27253fs) rs2154162603
NM_001267550.2(TTN):c.81802del (p.Asp27268fs) rs2154162514
NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)
NM_001267550.2(TTN):c.81847_81850del (p.Asp27283fs)
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.81912_81919dup (p.Val27307fs)
NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter) rs373533040
NM_001267550.2(TTN):c.82001_82002del (p.Leu27334fs) rs1704746759
NM_001267550.2(TTN):c.82044del (p.Ile27348_Leu27349insTer)
NM_001267550.2(TTN):c.82113_82132dup (p.Lys27378delinsSerLeuLeuLysGlyLeuTer) rs2154161823
NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter) rs2154161781
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
NM_001267550.2(TTN):c.82193del (p.Gly27398fs) rs1064795346
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter) rs1704654934
NM_001267550.2(TTN):c.82226del (p.Lys27409fs) rs1575653015
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter) rs2154161716
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter) rs371332011
NM_001267550.2(TTN):c.82299del (p.Lys27433fs) rs2154161694
NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter) rs1060503941
NM_001267550.2(TTN):c.82409del (p.Pro27470fs)
NM_001267550.2(TTN):c.82415_82419dup (p.Ser27474fs)
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter) rs1181684993
NM_001267550.2(TTN):c.82529del (p.Asp27510fs)
NM_001267550.2(TTN):c.82535_82538del (p.Glu27512fs)
NM_001267550.2(TTN):c.82536del (p.Gly27513fs) rs2154161517
NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter) rs2154161494
NM_001267550.2(TTN):c.82576del (p.Asp27526fs)
NM_001267550.2(TTN):c.82592_82593del (p.Val27531fs) rs1704477893
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs) rs1064795407
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.82673dup (p.Ser27559fs) rs1704426915
NM_001267550.2(TTN):c.82684_82685insSVAelement
NM_001267550.2(TTN):c.82727del (p.Asn27576fs)
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter) rs368850871
NM_001267550.2(TTN):c.82786del (p.Tyr27596fs) rs1704380780
NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter) rs1704361187
NM_001267550.2(TTN):c.82843del (p.Asp27615fs)
NM_001267550.2(TTN):c.82847_82850del (p.Glu27616fs) rs2154161251
NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter) rs747365357
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs) rs796267411
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)
NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter) rs2154161170
NM_001267550.2(TTN):c.83048del (p.Lys27683fs) rs1060500572
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter) rs1559314812
NM_001267550.2(TTN):c.83125_83131del (p.Trp27709fs)
NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter) rs2154161090
NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)
NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs) rs2154160971
NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter) rs2154160959
NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter) rs769862471
NM_001267550.2(TTN):c.83384del (p.Gly27795fs) rs1704151765
NM_001267550.2(TTN):c.83504_83505del (p.Ser27835fs)
NM_001267550.2(TTN):c.83609dup (p.Thr27871fs)
NM_001267550.2(TTN):c.83635del (p.Thr27879fs)
NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter) rs794729295
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
NM_001267550.2(TTN):c.83739C>A (p.Cys27913Ter)
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
NM_001267550.2(TTN):c.83788_83789del (p.Glu27930fs) rs1553567622
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs) rs1575633082
NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter) rs1703920233
NM_001267550.2(TTN):c.84024_84025del (p.Arg28008fs) rs1575630957
NM_001267550.2(TTN):c.84062_84065del (p.Ser28021fs) rs1703876192
NM_001267550.2(TTN):c.84063_84066del (p.Ile28022fs) rs796692860
NM_001267550.2(TTN):c.84070_84073del (p.Glu28024fs) rs2154160472
NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter) rs762450131
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs) rs2154160413
NM_001267550.2(TTN):c.84202_84205del (p.Ser28068fs)
NM_001267550.2(TTN):c.84228del (p.Ser28075_Trp28076insTer) rs1703813514
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.84353del (p.Arg28118fs)
NM_001267550.2(TTN):c.84365del (p.Gly28122fs) rs750146750
NM_001267550.2(TTN):c.84370_84373del (p.Glu28124fs) rs1559301344
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter) rs756176112
NM_001267550.2(TTN):c.84464del (p.Pro28155fs)
NM_001267550.2(TTN):c.84482del (p.Pro28161fs) rs1060500556
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter) rs2154159874
NM_001267550.2(TTN):c.84537_84540dup (p.Asp28181Ter)
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs) rs1703664543
NM_001267550.2(TTN):c.84602G>A (p.Trp28201Ter) rs2154159779
NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)
NM_001267550.2(TTN):c.84619del (p.Ile28207fs) rs2154159753
NM_001267550.2(TTN):c.84631del (p.Asp28211fs) rs1703651493
NM_001267550.2(TTN):c.84641_84645del (p.Met28214fs)
NM_001267550.2(TTN):c.84642del (p.Met28214fs)
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter) rs2154159715
NM_001267550.2(TTN):c.84819del (p.Trp28273fs) rs2154159514
NM_001267550.2(TTN):c.84820dup (p.Ser28274fs) rs2154159502
NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter) rs794729296
NM_001267550.2(TTN):c.84922del (p.Gln28308fs) rs2154159416
NM_001267550.2(TTN):c.84958_84959delinsT (p.Asp28320fs) rs1703522059
NM_001267550.2(TTN):c.84984del (p.Phe28328fs)
NM_001267550.2(TTN):c.84984dup (p.Ala28329fs) rs2154159353
NM_001267550.2(TTN):c.85005dup (p.Val28336fs)
NM_001267550.2(TTN):c.85013_85014del (p.Glu28338fs) rs2154159323
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter) rs1703437679
NM_001267550.2(TTN):c.85180dup (p.Asp28394fs)
NM_001267550.2(TTN):c.85254del (p.Asp28419fs)
NM_001267550.2(TTN):c.85262dup (p.Arg28422fs)
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter) rs769664554
NM_001267550.2(TTN):c.85359del (p.Pro28454fs)
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs) rs2154159007
NM_001267550.2(TTN):c.85431del (p.Asp28478fs) rs1703325248
NM_001267550.2(TTN):c.85458del (p.Tyr28485_Tyr28486insTer) rs2154158972
NM_001267550.2(TTN):c.85486del (p.Ala28497fs) rs2154158948
NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)
NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter) rs1057520803
NM_001267550.2(TTN):c.85519dup (p.Met28507fs) rs1575614351
NM_001267550.2(TTN):c.85525dup (p.Ser28509fs) rs2154158897
NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter) rs886041441
NM_001267550.2(TTN):c.85546del (p.Leu28516fs) rs2154158876
NM_001267550.2(TTN):c.85589_85592del (p.Lys28530fs) rs1553562793
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs) rs794729353
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs) rs762286447
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs) rs1219440385
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter) rs1575612435
NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter) rs1553562490
NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)
NM_001267550.2(TTN):c.85811del (p.Pro28604fs)
NM_001267550.2(TTN):c.85860del (p.Glu28620fs) rs1575611108
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86003dup (p.Thr28669fs) rs1559284676
NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter) rs1559284497
NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter) rs1553562022
NM_001267550.2(TTN):c.86036dup (p.Gly28680fs) rs2154158408
NM_001267550.2(TTN):c.86076del (p.Lys28692fs) rs1285329277
NM_001267550.2(TTN):c.86162_86163del (p.Tyr28721fs) rs2154158304
NM_001267550.2(TTN):c.86219_86220del (p.Ser28739_Ser28740insTer)
NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter) rs772058084
NM_001267550.2(TTN):c.86290_86299del (p.Leu28764fs) rs2154158204
NM_001267550.2(TTN):c.86290_86302del (p.Ile28765fs) rs2154158200
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs) rs1064792916
NM_001267550.2(TTN):c.86333del (p.Phe28778fs)
NM_001267550.2(TTN):c.86354_86821+291del rs1559272130
NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)
NM_001267550.2(TTN):c.86399_86403del (p.Ala28799_Tyr28800insTer)
NM_001267550.2(TTN):c.86407_86408dup (p.Thr28804fs) rs2154158109
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.86441del (p.Asn28814fs)
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter) rs794729297
NM_001267550.2(TTN):c.86570dup (p.Thr28858fs) rs2154157942
NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.86670del (p.Ala28891fs) rs1702795017
NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter) rs745896785
NM_001267550.2(TTN):c.86676G>A (p.Trp28892Ter)
NM_001267550.2(TTN):c.86699del (p.Asn28900fs) rs2154157834
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs) rs1415420768
NM_001267550.2(TTN):c.86754_86755del (p.Arg28918fs)
NM_001267550.2(TTN):c.86822-1del
NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter) rs1702376984
NM_001267550.2(TTN):c.86889del (p.Trp28963fs) rs1559268818
NM_001267550.2(TTN):c.86905del (p.Asp28969fs)
NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)
NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter) rs1702355636
NM_001267550.2(TTN):c.86975del (p.Cys28992fs)
NM_001267550.2(TTN):c.87004_87005del (p.Val29002fs)
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007fs) rs1559267059
NM_001267550.2(TTN):c.87028del (p.Glu29010fs) rs1702337235
NM_001267550.2(TTN):c.87046_87049del (p.Phe29016fs) rs1575592653
NM_001267550.2(TTN):c.87077dup (p.Arg29027fs)
NM_001267550.2(TTN):c.87106A>T (p.Lys29036Ter)
NM_001267550.2(TTN):c.87116_87117dup (p.Glu29040Ter) rs2154156468
NM_001267550.2(TTN):c.87118+1G>A
NM_001267550.2(TTN):c.87137_87138del (p.Met29046fs) rs1702243883
NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)
NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter) rs2154156172
NM_001267550.2(TTN):c.87238del (p.Arg29080fs)
NM_001267550.2(TTN):c.87253del (p.Lys29086fs) rs2154156150
NM_001267550.2(TTN):c.87253delinsTTA (p.Lys29086fs) rs1702209747
NM_001267550.2(TTN):c.87273dup (p.Asn29092Ter)
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
NM_001267550.2(TTN):c.87340A>T (p.Arg29114Ter)
NM_001267550.2(TTN):c.87346_87368dup (p.Ser29123fs)
NM_001267550.2(TTN):c.87366del (p.Ser29123fs) rs2154156075
NM_001267550.2(TTN):c.87376_87383dup (p.Phe29129fs) rs1702151195
NM_001267550.2(TTN):c.87451del (p.Thr29151fs) rs2154156000
NM_001267550.2(TTN):c.87470_87471del (p.Leu29157fs) rs2154155985
NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
NM_001267550.2(TTN):c.87532_87538del (p.Arg29178fs) rs2154155943
NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter) rs1057518275
NM_001267550.2(TTN):c.87566_87567del (p.Ser29189fs) rs2154155928
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) rs772121356
NM_001267550.2(TTN):c.87664dup (p.Asp29222fs) rs2154155844
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter) rs1575584918
NM_001267550.2(TTN):c.87707dup (p.Thr29237fs) rs1575583160
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs) rs1553553671
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter) rs1701973330
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter) rs794729299
NM_001267550.2(TTN):c.87764del (p.Thr29255fs) rs2154155659
NM_001267550.2(TTN):c.87816T>A (p.Tyr29272Ter)
NM_001267550.2(TTN):c.87834_87835del (p.Asp29278fs) rs2154155619
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs)
NM_001267550.2(TTN):c.87835del (p.Arg29279fs) rs2154155616
NM_001267550.2(TTN):c.87836_87837del (p.Arg29279fs) rs2154155607
NM_001267550.2(TTN):c.87848T>G (p.Leu29283Ter)
NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter) rs1701925645
NM_001267550.2(TTN):c.87888del (p.Phe29297fs) rs1060500399
NM_001267550.2(TTN):c.87931_87935dup (p.Tyr29313fs) rs2154155550
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter) rs200314496
NM_001267550.2(TTN):c.87947del (p.Asn29316fs)
NM_001267550.2(TTN):c.87954del (p.Gly29319fs) rs2154155537
NM_001267550.2(TTN):c.87977del (p.Pro29326fs)
NM_001267550.2(TTN):c.88009+2T>G rs1701869111
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs) rs2154155280
NM_001267550.2(TTN):c.88092dup (p.Ser29365Ter)
NM_001267550.2(TTN):c.88177del (p.Thr29393fs) rs1575576927
NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter) rs1701741963
NM_001267550.2(TTN):c.88306+1G>C rs727503550
NM_001267550.2(TTN):c.88307-1G>A
NM_001267550.2(TTN):c.88313dup (p.Val29439fs) rs2154153508
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.88437dup (p.Glu29480fs) rs2154153430
NM_001267550.2(TTN):c.88521_88522del (p.Asn29507fs)
NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter) rs1436663696
NM_001267550.2(TTN):c.88594+2T>G rs1057520744
NM_001267550.2(TTN):c.88594_88595insGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAGACAAACCAGGCCCACCTGGTGGACCAATTGAATTTAAGACTGTAACTGCTGAGAAGATCACCCTTCTCTGGCGGCCTCCAGCTGATGATGGTGGTGAAACCTGCGCCTACTATTGAGTGGTATAAAGATGATAAAGAATTACAAACCAATGCACTGGTGTGTGTTGAAAATACCACGGACCTCGCATCTATACTCATCAAAGATGCCGATCGCCTTAATAGTGGATGCTATGAATTAAAACTAAGGAATGCCATGGGCTCAGCCTCAGCCACCATCAGAGTACAGATCCTTGGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAG (p.Asp29532delinsGlyArgCysTer)
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs) rs794729360
NM_001267550.2(TTN):c.88721del (p.Arg29574fs) rs1575547155
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs) rs2154152955
NM_001267550.2(TTN):c.88895-1G>A rs1575540533
NM_001267550.2(TTN):c.88954_88955del (p.Val29652fs)
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs) rs794727468
NM_001267550.2(TTN):c.89006del (p.Phe29669fs) rs794729361
NM_001267550.2(TTN):c.89006dup (p.Leu29670fs) rs794729361
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
NM_001267550.2(TTN):c.89075_89078del (p.Arg29692fs)
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)
NM_001267550.2(TTN):c.89083del (p.Lys29694_Val29695insTer) rs2154152514
NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter) rs1700331549
NM_001267550.2(TTN):c.89121_89122del (p.Arg29707fs) rs2154152480
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
NM_001267550.2(TTN):c.89150del (p.Gly29717fs) rs2154152449
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs) rs1575534947
NM_001267550.2(TTN):c.89270del (p.Lys29757fs) rs794729362
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs)
NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter) rs794729385
NM_001267550.2(TTN):c.89306_89307del (p.Tyr29769fs)
NM_001267550.2(TTN):c.89307T>A (p.Tyr29769Ter)
NM_001267550.2(TTN):c.89307T>G (p.Tyr29769Ter)
NM_001267550.2(TTN):c.89322_89326del (p.Gln29775fs)
NM_001267550.2(TTN):c.89332del (p.Glu29778fs)
NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter) rs2154152175
NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)
NM_001267550.2(TTN):c.8938_8939insTTGG (p.Ala2980fs)
NM_001267550.2(TTN):c.8938del (p.Ala2980fs)
NM_001267550.2(TTN):c.89425del (p.Arg29809fs)
NM_001267550.2(TTN):c.89445_89446del (p.Ala29816fs)
NM_001267550.2(TTN):c.89475_89478del (p.Glu29826fs)
NM_001267550.2(TTN):c.89503+1G>C rs1559218619
NM_001267550.2(TTN):c.89504-2_89509del
NM_001267550.2(TTN):c.89553del (p.Ala29853fs) rs1575529262
NM_001267550.2(TTN):c.89619dup (p.Arg29874fs)
NM_001267550.2(TTN):c.89625del (p.Asp29876fs) rs1559216544
NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter) rs1700085960
NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)
NM_001267550.2(TTN):c.89786_89787dup (p.Val29930fs)
NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter) rs2154151737
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter) rs1060500457
NM_001267550.2(TTN):c.89882_89885del (p.Gly29961fs) rs2154151697
NM_001267550.2(TTN):c.89884G>T (p.Gly29962Ter) rs2154151700
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.89940del (p.Trp29980fs)
NM_001267550.2(TTN):c.89979del (p.Lys29993fs)
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter) rs1699956677
NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter) rs1699948037
NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)
NM_001267550.2(TTN):c.90135dup (p.Ser30046fs)
NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)
NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter) rs920201335
NM_001267550.2(TTN):c.90208_90209insSVAelement
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter) rs786205538
NM_001267550.2(TTN):c.90231G>A (p.Trp30077Ter) rs2154151450
NM_001267550.2(TTN):c.90249del (p.Ser30083fs) rs2154151435
NM_001267550.2(TTN):c.90306_90307del (p.Arg30102fs) rs2154151379
NM_001267550.2(TTN):c.90358del (p.Ile30120fs) rs1699849996
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter) rs1553539995
NM_001267550.2(TTN):c.90388G>T (p.Glu30130Ter) rs2154151318
NM_001267550.2(TTN):c.90415_90421dup (p.Val30141fs) rs1699828609
NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter) rs2154151302
NM_001267550.2(TTN):c.90486_90489del (p.Ile30163fs) rs2154151260
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.90587dup (p.Glu30197fs)
NM_001267550.2(TTN):c.90594dup (p.Gly30199fs) rs1553539686
NM_001267550.2(TTN):c.90605dup (p.Tyr30202Ter) rs2154151177
NM_001267550.2(TTN):c.90623dup (p.Asn30208fs) rs1553539620
NM_001267550.2(TTN):c.90628del (p.Val30210fs) rs2154151163
NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs) rs794729363
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
NM_001267550.2(TTN):c.90696del (p.Arg30233fs) rs1699711208
NM_001267550.2(TTN):c.90699del (p.Phe30234fs) rs2154151080
NM_001267550.2(TTN):c.90702del (p.Phe30234fs)
NM_001267550.2(TTN):c.90737G>A (p.Trp30246Ter) rs2154151058
NM_001267550.2(TTN):c.90739del (p.Asp30247fs)
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.90841A>T (p.Arg30281Ter)
NM_001267550.2(TTN):c.90844del (p.Thr30282fs) rs2154150991
NM_001267550.2(TTN):c.90883dup (p.Tyr30295fs) rs1699641688
NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter) rs773538148
NM_001267550.2(TTN):c.90914dup (p.Tyr30305Ter)
NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)
NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs) rs1559200975
NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter) rs2154150847
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs) rs769422187
NM_001267550.2(TTN):c.91101_91102dup (p.Ser30368fs)
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
NM_001267550.2(TTN):c.91270+1G>A rs2154150675
NM_001267550.2(TTN):c.91312del (p.Thr30438fs)
NM_001267550.2(TTN):c.91343_91344insA (p.Arg30448_Asp30449insTer) rs2154150232
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs) rs1699247877
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91551_91552del (p.Arg30518_Asp30519insTer)
NM_001267550.2(TTN):c.91564+2T>C rs1699208458
NM_001267550.2(TTN):c.91589del (p.Pro30530fs)
NM_001267550.2(TTN):c.91655del (p.Gly30552fs) rs1698781465
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter) rs1553536305
NM_001267550.2(TTN):c.91678_91685dup (p.Lys30562fs) rs2154148938
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs) rs886042502
NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer)
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter) rs1060500402
NM_001267550.2(TTN):c.91977del (p.Lys30659fs)
NM_001267550.2(TTN):c.91993del (p.Ala30666fs)
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter) rs2154148429
NM_001267550.2(TTN):c.92049del (p.Lys30683fs)
NM_001267550.2(TTN):c.92063del (p.Asn30688fs)
NM_001267550.2(TTN):c.92079dup (p.Val30694fs) rs2154148371
NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)
NM_001267550.2(TTN):c.92152+1G>C
NM_001267550.2(TTN):c.92169del (p.Gly30724fs)
NM_001267550.2(TTN):c.92236_92237del (p.Asp30746fs) rs2154148134
NM_001267550.2(TTN):c.92284_92288del (p.Lys30762fs) rs756367933
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.92294del (p.Arg30765fs)
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)
NM_001267550.2(TTN):c.92498del (p.Thr30833fs) rs2154147918
NM_001267550.2(TTN):c.92504del (p.Lys30835fs) rs2154147910
NM_001267550.2(TTN):c.92519T>G (p.Leu30840Ter)
NM_001267550.2(TTN):c.92526G>A (p.Trp30842Ter) rs2154147893
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs) rs2154147864
NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter) rs2154147843
NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs) rs1559175090
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter) rs1305222903
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.92688_92691dup (p.Ala30898Ter)
NM_001267550.2(TTN):c.92795_92798del (p.Lys30932fs)
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter) rs1553532356
NM_001267550.2(TTN):c.92884_92887del (p.Pro30962fs) rs1698201730
NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter) rs1698169393
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter) rs2154147529
NM_001267550.2(TTN):c.93050del (p.Pro31017fs)
NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter) rs907669905
NM_001267550.2(TTN):c.93106dup (p.Met31036fs) rs2154147449
NM_001267550.2(TTN):c.93119dup (p.Leu31041fs)
NM_001267550.2(TTN):c.93145_93146del (p.His31049fs)
NM_001267550.2(TTN):c.93153T>G (p.Tyr31051Ter)
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93181del (p.Arg31061fs) rs2154147379
NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter) rs1454572839
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter) rs1243301263
NM_001267550.2(TTN):c.93592del (p.Arg31198fs)
NM_001267550.2(TTN):c.93641del (p.Thr31214fs)
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer)
NM_001267550.2(TTN):c.93735dup (p.Lys31246fs)
NM_001267550.2(TTN):c.93754del (p.Glu31252fs)
NM_001267550.2(TTN):c.93764_93765del (p.Arg31255fs)
NM_001267550.2(TTN):c.93766del (p.Glu31258fs)
NM_001267550.2(TTN):c.93772G>T (p.Glu31258Ter)
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter) rs1553528016
NM_001267550.2(TTN):c.93784_93785insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGACAGATCGAG (p.Arg31261_Val31262insAlaProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProSerProValSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluThrAspArg) rs2154146971
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter) rs2154146843
NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)
NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)
NM_001267550.2(TTN):c.94128del (p.Lys31375_Tyr31376insTer) rs2154146720
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94220-1G>A rs1553525592
NM_001267550.2(TTN):c.94220-2A>G
NM_001267550.2(TTN):c.94263del (p.Ala31422fs)
NM_001267550.2(TTN):c.94266dup (p.Asn31423fs)
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.94331G>A (p.Trp31444Ter) rs1429264347
NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter) rs1697578690
NM_001267550.2(TTN):c.94365G>A (p.Trp31455Ter)
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter) rs1553524697
NM_001267550.2(TTN):c.94407del (p.Lys31469_Val31470insTer)
NM_001267550.2(TTN):c.94418T>A (p.Leu31473Ter)
NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)
NM_001267550.2(TTN):c.94448del (p.Thr31483fs) rs2154146389
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)
NM_001267550.2(TTN):c.94747_94748del (p.Arg31583fs) rs1697311515
NM_001267550.2(TTN):c.94752_94753dup (p.Leu31585fs)
NM_001267550.2(TTN):c.94788del (p.Ser31597fs)
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)
NM_001267550.2(TTN):c.94903_94904del (p.Leu31635fs)
NM_001267550.2(TTN):c.94939del (p.Ile31647fs) rs1553521978
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter) rs2154145831
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs) rs1697105934
NM_001267550.2(TTN):c.95051_95070del (p.Gly31684fs) rs2154145769
NM_001267550.2(TTN):c.95055del (p.Lys31685fs) rs1174834630
NM_001267550.2(TTN):c.95062_95063del (p.Leu31688fs) rs2154145784
NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter) rs794729538
NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter) rs794729538
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs) rs1697077852
NM_001267550.2(TTN):c.95119+1G>C
NM_001267550.2(TTN):c.95120-2A>G rs2154145628
NM_001267550.2(TTN):c.95163_95176del (p.Gln31722fs)
NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter) rs2154145603
NM_001267550.2(TTN):c.95200del (p.Glu31734fs)
NM_001267550.2(TTN):c.95246del (p.Glu31749fs) rs1696922090
NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter) rs1696912764
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer) rs2154145523
NM_001267550.2(TTN):c.95289_95298del (p.Thr31764fs) rs1575442120
NM_001267550.2(TTN):c.95370dup (p.Gly31791fs) rs2154145442
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)
NM_001267550.2(TTN):c.95469dup (p.Ile31824fs) rs1553520581
NM_001267550.2(TTN):c.95490dup (p.Pro31831fs) rs2154145209
NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)
NM_001267550.2(TTN):c.95576_95577del (p.Lys31859fs)
NM_001267550.2(TTN):c.95669del (p.Gly31890fs) rs2154145062
NM_001267550.2(TTN):c.95722+1G>C
NM_001267550.2(TTN):c.95723-2A>C rs2154144335
NM_001267550.2(TTN):c.95735del (p.Pro31912fs) rs1553519454
NM_001267550.2(TTN):c.95770del (p.His31924fs) rs794729364
NM_001267550.2(TTN):c.95772_95773del (p.His31924fs) rs1060500544
NM_001267550.2(TTN):c.95802del (p.Met31934fs)
NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter) rs375076970
NM_001267550.2(TTN):c.95806del (p.Asp31936fs)
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
NM_001267550.2(TTN):c.95845C>T (p.Gln31949Ter) rs2154144237
NM_001267550.2(TTN):c.95848G>T (p.Glu31950Ter)
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter) rs2154144218
NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter) rs775585263
NM_001267550.2(TTN):c.95992del (p.Glu31998fs) rs2154144138
NM_001267550.2(TTN):c.96069dup (p.Val32024fs) rs878854432
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs) rs1695870572
NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)
NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs) rs1553518529
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs) rs2154143867
NM_001267550.2(TTN):c.96303dup (p.Val32102fs) rs1695788718
NM_001267550.2(TTN):c.9630del (p.Arg3211fs)
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter) rs1695634838
NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter) rs1009407656
NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96679del (p.Leu32227fs) rs2154143419
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs) rs2154143418
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206
NM_001267550.2(TTN):c.96731del (p.Ala32244fs) rs2154143380
NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)
NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter) rs2154143363
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer) rs2154143307
NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)
NM_001267550.2(TTN):c.96849del (p.Gly32284fs) rs2154143293
NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs) rs1695435412
NM_001267550.2(TTN):c.96904+1G>A rs1553517092
NM_001267550.2(TTN):c.96905-1G>A
NM_001267550.2(TTN):c.96909dup (p.Pro32304fs) rs1553516759
NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter) rs1695289576
NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)
NM_001267550.2(TTN):c.96997del (p.Arg32333fs) rs1695259740
NM_001267550.2(TTN):c.97006_97021del (p.Pro32336fs) rs2154142958
NM_001267550.2(TTN):c.97011del (p.Ala32338fs)
NM_001267550.2(TTN):c.97025_97035del (p.Phe32341_Phe32342insTer)
NM_001267550.2(TTN):c.9703+1G>A
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97134del (p.Glu32380fs)
NM_001267550.2(TTN):c.97179_97183del (p.Lys32393fs)
NM_001267550.2(TTN):c.97192+1G>C
NM_001267550.2(TTN):c.97193-2A>C
NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter) rs2154142586
NM_001267550.2(TTN):c.97294_97295del (p.Leu32432fs) rs2154142563
NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705
NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)
NM_001267550.2(TTN):c.97395del (p.Glu32466fs) rs1553515473
NM_001267550.2(TTN):c.97405_97408dup (p.Tyr32470Ter)
NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs) rs878854433
NM_001267550.2(TTN):c.97470_97492+248del rs1559108136
NM_001267550.2(TTN):c.97475_97476del (p.Glu32492fs) rs2154142418
NM_001267550.2(TTN):c.97506_97507insTT (p.Pro32503fs) rs1694530382
NM_001267550.2(TTN):c.97520del (p.Gln32507fs) rs1694523513
NM_001267550.2(TTN):c.97523_97527del (p.Ile32508fs) rs794729395
NM_001267550.2(TTN):c.97555dup (p.Thr32519fs)
NM_001267550.2(TTN):c.97588dup (p.Gln32530fs) rs2154141656
NM_001267550.2(TTN):c.97629del (p.Asp32544fs)
NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter) rs780653613
NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer) rs2154141588
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter) rs1301441435
NM_001267550.2(TTN):c.97855_97871dup (p.Glu32625fs)
NM_001267550.2(TTN):c.97927del (p.Asp32643fs)
NM_001267550.2(TTN):c.97950dup (p.Asn32651Ter) rs2154140546
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98019_98031dup (p.Cys32678fs)
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
NM_001267550.2(TTN):c.98077_98080del (p.Val32693fs)
NM_001267550.2(TTN):c.98098+1G>T
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98136del (p.Gly32713fs) rs2154140292
NM_001267550.2(TTN):c.98164del (p.Ile32722fs)
NM_001267550.2(TTN):c.98168_98169del (p.Arg32723fs) rs2154140269
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001267550.2(TTN):c.98299del (p.Arg32767fs) rs772061676
NM_001267550.2(TTN):c.98324del (p.Leu32775fs) rs2154140145
NM_001267550.2(TTN):c.98421_98422insGG (p.Ile32808fs) rs2154140080
NM_001267550.2(TTN):c.98432_98433dup (p.Ser32812fs)
NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter) rs2154140054
NM_001267550.2(TTN):c.98500del (p.Glu32834fs) rs2154140017
NM_001267550.2(TTN):c.98515_98568del (p.Pro32839_Val32856del) rs1693333622
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter) rs1693309648
NM_001267550.2(TTN):c.98625_98634del (p.Phe32876fs) rs2154139897
NM_001267550.2(TTN):c.98627_98628del (p.Phe32876fs)
NM_001267550.2(TTN):c.98637del (p.Ser32879fs)
NM_001267550.2(TTN):c.98660del (p.Pro32887fs) rs1553509300
NM_001267550.2(TTN):c.98774del (p.Gly32925fs) rs2154139656
NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter) rs1407053984
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98990-2A>C rs2154139399
NM_001267550.2(TTN):c.98992A>T (p.Lys32998Ter)
NM_001267550.2(TTN):c.99033del (p.Asp33013fs)
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99038_99041dup (p.Ser33014delinsArgTer)
NM_001267550.2(TTN):c.99041del (p.Ser33014fs) rs2154139357
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001267550.2(TTN):c.99113_99114del (p.Arg33038fs) rs2154139316
NM_001267550.2(TTN):c.99156dup (p.Ile33053fs) rs2154139263
NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)
NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs) rs794729396
NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)
NM_001267550.2(TTN):c.99289+1G>C rs2154139165
NM_001267550.2(TTN):c.99315del (p.Glu33106fs)
NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)
NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)
NM_001267550.2(TTN):c.99405_99406del (p.Tyr33135_Arg33136delinsTer)
NM_001267550.2(TTN):c.99463dup (p.Thr33155fs)
NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)
NM_001267550.2(TTN):c.99493C>T (p.Gln33165Ter)
NM_001267550.2(TTN):c.99498del (p.Asp33167fs)
NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)
NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs) rs1553504889
NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter) rs1490008675
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter) rs1575324979
NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs) rs2154138232
NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
NM_001267550.2(TTN):c.99865+1G>T
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
NM_001267550.2(TTN):c.9988+2T>C rs1298389127
NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter) rs2154138051
NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
NM_001267550.2(TTN):c.[62674G>A];[68984A>C]
NM_001267727.2(ARSG):c.982+1G>C
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala)
NM_001278293.3(ARL6):c.123+1G>A
NM_001278293.3(ARL6):c.254+1G>A
NM_001278293.3(ARL6):c.255-1_256del
NM_001278293.3(ARL6):c.350-13_350-2del rs1576465252
NM_001278293.3(ARL6):c.350-2A>C
NM_001278293.3(ARL6):c.479+1G>A rs1324418374
NM_001283009.2(RTEL1):c.1038-2A>G
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1191+1G>A rs2090461817
NM_001283009.2(RTEL1):c.1191+1G>C rs2090461817
NM_001283009.2(RTEL1):c.1192-2A>G rs2145411185
NM_001283009.2(RTEL1):c.1228_1266+39del rs2090573767
NM_001283009.2(RTEL1):c.1236_1266+47del rs1568703403
NM_001283009.2(RTEL1):c.1249dup (p.Ala417fs)
NM_001283009.2(RTEL1):c.1255del (p.Gln419fs)
NM_001283009.2(RTEL1):c.1264A>T (p.Lys422Ter)
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1348+1G>T rs2145412626
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.1595+1G>A rs2145421181
NM_001283009.2(RTEL1):c.1595_1595+8del
NM_001283009.2(RTEL1):c.1596-1G>A rs1555811386
NM_001283009.2(RTEL1):c.1596-1_1596delinsAA rs1601163764
NM_001283009.2(RTEL1):c.1637-24_1637del
NM_001283009.2(RTEL1):c.1921G>A (p.Val641Met)
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs) rs1263776141
NM_001283009.2(RTEL1):c.2026-2A>G
NM_001283009.2(RTEL1):c.2057dup (p.Ala687fs)
NM_001283009.2(RTEL1):c.2141+1G>T
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2142-1G>C
NM_001283009.2(RTEL1):c.2142-1G>T
NM_001283009.2(RTEL1):c.2180G>A (p.Trp727Ter)
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2239_2251del (p.Gln747fs)
NM_001283009.2(RTEL1):c.2248del (p.Arg750fs)
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2265+2T>A rs1555811966
NM_001283009.2(RTEL1):c.2266-2A>G
NM_001283009.2(RTEL1):c.2364dup (p.Ala789fs)
NM_001283009.2(RTEL1):c.2413+1G>A
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2413+1G>T
NM_001283009.2(RTEL1):c.2414-2A>G rs1555812178
NM_001283009.2(RTEL1):c.2527C>T (p.Gln843Ter)
NM_001283009.2(RTEL1):c.2533del (p.Ala845fs) rs1555812228
NM_001283009.2(RTEL1):c.2557-1G>A
NM_001283009.2(RTEL1):c.2557-2A>G
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2608G>T (p.Glu870Ter)
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2653-1G>A
NM_001283009.2(RTEL1):c.2653-2A>C rs1555812834
NM_001283009.2(RTEL1):c.2653-3_2653-1del
NM_001283009.2(RTEL1):c.2674C>T (p.Gln892Ter)
NM_001283009.2(RTEL1):c.2680del (p.Asp894fs)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2733del (p.Phe912fs)
NM_001283009.2(RTEL1):c.276del (p.Ala93fs)
NM_001283009.2(RTEL1):c.2782_2992+170del rs2090789401
NM_001283009.2(RTEL1):c.2807_2808delinsA (p.Gly936fs)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2817_2821dup (p.Glu941fs)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2851+1G>A rs1421904176
NM_001283009.2(RTEL1):c.2851+1G>T rs1421904176
NM_001283009.2(RTEL1):c.2852-1G>C rs2145448526
NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs) rs1555813123
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2992+1G>A rs1370553261
NM_001283009.2(RTEL1):c.2992+1G>C
NM_001283009.2(RTEL1):c.2992+2T>A
NM_001283009.2(RTEL1):c.2992+492_3068del
NM_001283009.2(RTEL1):c.301+1G>A rs2146149228
NM_001283009.2(RTEL1):c.302-2A>G
NM_001283009.2(RTEL1):c.302-8_303del rs2090026700
NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs) rs1555814044
NM_001283009.2(RTEL1):c.3109+1G>T
NM_001283009.2(RTEL1):c.3109+2T>C
NM_001283009.2(RTEL1):c.3109+2T>G
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter) rs1415449695
NM_001283009.2(RTEL1):c.3130del (p.Gln1044fs)
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del) rs1568724567
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3343+1G>C rs2145476311
NM_001283009.2(RTEL1):c.3343+1G>T rs2145476311
NM_001283009.2(RTEL1):c.3344-2A>G rs980695424
NM_001283009.2(RTEL1):c.3499+1G>A
NM_001283009.2(RTEL1):c.3499+2T>C
NM_001283009.2(RTEL1):c.3500-1G>A rs1205986855
NM_001283009.2(RTEL1):c.3578del (p.Val1193fs) rs2145479688
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3787del (p.Gln1263fs) rs2145480981
NM_001283009.2(RTEL1):c.395+1G>T
NM_001283009.2(RTEL1):c.396-2A>G
NM_001283009.2(RTEL1):c.396-59del
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.477+1G>A
NM_001283009.2(RTEL1):c.478-2A>G
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter) rs1161373315
NM_001283009.2(RTEL1):c.614+1G>C
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter) rs1555901000
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.820_827del (p.Ser274fs)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.919+1G>T
NM_001283009.2(RTEL1):c.919+2T>C
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_001286445.3(RIPOR2):c.1498C>T (p.Arg500Ter)
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys) rs2142378398
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met) rs1410701535
NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)
NM_001287.6(CLCN7):c.1448-2A>G
NM_001287.6(CLCN7):c.1638del (p.Lys546fs) rs2142368980
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln) rs757788894
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe) rs1172932679
NM_001287.6(CLCN7):c.839G>A (p.Arg280His) rs1163577336
NM_001292063.2(OTOG):c.2561+1del rs1852533572
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter) rs2134090994
NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly) rs1853512469
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs) rs1565127413
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter) rs1565129771
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
NM_001292063.2(OTOG):c.880del (p.Asp294fs)
NM_001329943.3(KIAA0586):c.-29A>C rs752709426
NM_001329943.3(KIAA0586):c.1129+1G>A rs2140707466
NM_001329943.3(KIAA0586):c.1130-2A>G
NM_001329943.3(KIAA0586):c.1253+1G>A
NM_001329943.3(KIAA0586):c.1362+2T>C rs901508284
NM_001329943.3(KIAA0586):c.1884+1G>T
NM_001329943.3(KIAA0586):c.200-2A>G
NM_001329943.3(KIAA0586):c.2254+1G>T
NM_001329943.3(KIAA0586):c.2634+1G>T
NM_001329943.3(KIAA0586):c.271-1G>A
NM_001329943.3(KIAA0586):c.2825+1G>A rs2141025675
NM_001329943.3(KIAA0586):c.2945-1G>C
NM_001329943.3(KIAA0586):c.3142_3144+5del rs771240219
NM_001329943.3(KIAA0586):c.3144+1G>A
NM_001329943.3(KIAA0586):c.3144+2T>C
NM_001329943.3(KIAA0586):c.341-2A>G
NM_001329943.3(KIAA0586):c.3859-3_3865del
NM_001329943.3(KIAA0586):c.3991-1G>A
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
NM_001329943.3(KIAA0586):c.807+1G>T
NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr) rs747574524
NM_001351132.2(PEX5):c.135_147+32del
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
NM_001351132.2(PEX5):c.147+2T>G
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.1561-2A>G rs2136254229
NM_001351132.2(PEX5):c.317-2A>G rs2135903939
NM_001351132.2(PEX5):c.552-1G>A rs1064793563
NM_001351132.2(PEX5):c.753+1G>A
NM_001351132.2(PEX5):c.753+2T>C
NM_001351132.2(PEX5):c.754-2A>C
NM_001351132.2(PEX5):c.846+1G>A
NM_001351132.2(PEX5):c.847-2A>G
NM_001351132.2(PEX5):c.847-7_861del
NM_001351132.2(PEX5):c.966+1G>C rs2136176386
NM_001351132.2(PEX5):c.967-1G>A
NM_001351132.2(PEX5):c.967-1_971del
NM_001353108.3(CEP63):c.1835del (p.Ser611_Leu612insTer)
NM_001353108.3(CEP63):c.595del (p.Glu199fs) rs2109591981
NM_001353108.3(CEP63):c.790-2A>G
NM_001354304.2(PAH):c.-95-4071_-95-313del
NM_001366722.1(GRIP1):c.10_13del (p.Val4fs)
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs) rs764470052
NM_001367624.2(ZNF469):c.1081del (p.Ala361fs) rs1905872842
NM_001367624.2(ZNF469):c.1586del (p.Gly529fs) rs1905923050
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs) rs886044697
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter) rs1172315984
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs) rs2142312393
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter) rs764139968
NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs) rs1906662179
NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro) rs1182312612
NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu) rs533584507
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) rs1207879599
NM_001374623.1(PNPLA1):c.178G>A (p.Ala60Thr)
NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu) rs922934422
NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp) rs1373230987
NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro) rs746575171
NM_001374623.1(PNPLA1):c.820del (p.Arg274fs) rs1170446813
NM_001378183.1(PIEZO2):c.64+1G>A rs2040867555
NM_001378454.1(ALMS1):c.1000A>T (p.Lys334Ter)
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs) rs1553416233
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10079-2A>G
NM_001378454.1(ALMS1):c.10121C>A (p.Ser3374Ter)
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10213+1G>T
NM_001378454.1(ALMS1):c.10213_10213+2del
NM_001378454.1(ALMS1):c.10214-2A>G rs2104063527
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs) rs1553417044
NM_001378454.1(ALMS1):c.10288A>T (p.Lys3430Ter)
NM_001378454.1(ALMS1):c.10321A>T (p.Lys3441Ter)
NM_001378454.1(ALMS1):c.10346G>A (p.Trp3449Ter)
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)
NM_001378454.1(ALMS1):c.10436_10439del (p.Arg3478_Ser3479insTer)
NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter)
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs) rs1220975714
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs) rs1553418449
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer) rs1553418457
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10798G>T (p.Glu3600Ter)
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs) rs1553418505
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs) rs1553418512
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs) rs1553418513
NM_001378454.1(ALMS1):c.10874T>A (p.Leu3625Ter)
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.10984G>T (p.Glu3662Ter)
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.1150del (p.Arg384fs)
NM_001378454.1(ALMS1):c.11547+1G>A rs1553418638
NM_001378454.1(ALMS1):c.11547+2T>C
NM_001378454.1(ALMS1):c.11547+3A>T rs1271250182
NM_001378454.1(ALMS1):c.11548-2A>G
NM_001378454.1(ALMS1):c.11548-4_11549del
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs) rs1553421488
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter) rs1675625092
NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs) rs2104189157
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.11669-22_11686del
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11718del (p.Gly3906_Ile3907insTer) rs1573053394
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.1178C>A (p.Ser393Ter)
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11872+2T>A rs1553421657
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs) rs1553400778
NM_001378454.1(ALMS1):c.11943T>A (p.Cys3981Ter)
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs) rs1553421739
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs) rs1553421741
NM_001378454.1(ALMS1):c.12104_12105del (p.Ala4035fs) rs1553421752
NM_001378454.1(ALMS1):c.12114+1G>A
NM_001378454.1(ALMS1):c.12114+1G>T rs376719320
NM_001378454.1(ALMS1):c.12115-1G>T rs769160407
NM_001378454.1(ALMS1):c.12115-2A>T rs1394193524
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs) rs1553421886
NM_001378454.1(ALMS1):c.12193G>T (p.Glu4065Ter)
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.12299-1G>C
NM_001378454.1(ALMS1):c.12299-1del
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs) rs764503373
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs) rs1553422035
NM_001378454.1(ALMS1):c.12362+1G>A rs2104203068
NM_001378454.1(ALMS1):c.12363-2A>C rs2104216032
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.1237+2T>G rs916056435
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs) rs1553400956
NM_001378454.1(ALMS1):c.1324G>T (p.Glu442Ter)
NM_001378454.1(ALMS1):c.1336A>T (p.Lys446Ter)
NM_001378454.1(ALMS1):c.1432+1G>T rs1553401634
NM_001378454.1(ALMS1):c.1432+2T>A rs2103734661
NM_001378454.1(ALMS1):c.1432+2T>C
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1433-2A>G rs2103770992
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs) rs1572931120
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs) rs1553403262
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1645G>T (p.Glu549Ter)
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs) rs2103771766
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs) rs1553396238
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter) rs773971557
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs) rs1553403401
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs) rs1457500348
NM_001378454.1(ALMS1):c.2333T>A (p.Leu778Ter)
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.2590G>T (p.Gly864Ter)
NM_001378454.1(ALMS1):c.2686C>T (p.Gln896Ter)
NM_001378454.1(ALMS1):c.2689A>T (p.Lys897Ter)
NM_001378454.1(ALMS1):c.2728_2731del (p.His910fs) rs1558648189
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs) rs1553403560
NM_001378454.1(ALMS1):c.281del (p.Pro94fs) rs2104060044
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.284dup (p.His96fs) rs1553396293
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter) rs1553396296
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs) rs1553403598
NM_001378454.1(ALMS1):c.3176T>A (p.Leu1059Ter)
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs) rs2103778571
NM_001378454.1(ALMS1):c.3463C>T (p.His1155Tyr) rs2103779035
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs) rs1553403685
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.3712_3715del (p.Ser1238fs)
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3778G>T (p.Glu1260Ter)
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_001378454.1(ALMS1):c.3868A>T (p.Arg1290Ter)
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs) rs1553403762
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.3952G>T (p.Gly1318Ter)
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter) rs2103780942
NM_001378454.1(ALMS1):c.4149dup (p.His1384fs) rs1671915447
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs) rs2103781993
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4300A>T (p.Lys1434Ter)
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs) rs1553403864
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4351G>T (p.Glu1451Ter)
NM_001378454.1(ALMS1):c.4375C>T (p.Pro1459Ser)
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs) rs1553403882
NM_001378454.1(ALMS1):c.450+1G>A rs1302255267
NM_001378454.1(ALMS1):c.450+2T>C rs1671019928
NM_001378454.1(ALMS1):c.451-2A>G
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
NM_001378454.1(ALMS1):c.4838del (p.Gly1613fs)
NM_001378454.1(ALMS1):c.4960A>T (p.Lys1654Ter)
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs) rs1553403989
NM_001378454.1(ALMS1):c.5143A>T (p.Arg1715Ter) rs773513360
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs) rs1553404028
NM_001378454.1(ALMS1):c.5239C>T (p.Gln1747Ter)
NM_001378454.1(ALMS1):c.5240A>T (p.Gln1747Leu) rs1572936360
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs) rs1553404066
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5553C>A (p.Tyr1851Ter)
NM_001378454.1(ALMS1):c.5560A>T (p.Arg1854Ter)
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs) rs1057517445
NM_001378454.1(ALMS1):c.5653A>T (p.Lys1885Ter)
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys) rs2103787360
NM_001378454.1(ALMS1):c.5726del (p.Glu1909fs) rs1572936972
NM_001378454.1(ALMS1):c.5830A>T (p.Arg1944Ter)
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs) rs1553404150
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs) rs1553404156
NM_001378454.1(ALMS1):c.5903C>A (p.Ser1968Ter)
NM_001378454.1(ALMS1):c.5929A>T (p.Lys1977Ter)
NM_001378454.1(ALMS1):c.5964C>A (p.Tyr1988Ter)
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter) rs777080769
NM_001378454.1(ALMS1):c.5977A>T (p.Lys1993Ter)
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.6070A>T (p.Lys2024Ter)
NM_001378454.1(ALMS1):c.6175C>T (p.Gln2059Ter)
NM_001378454.1(ALMS1):c.6205A>T (p.Lys2069Ter)
NM_001378454.1(ALMS1):c.6269del (p.Ser2090fs) rs1572937636
NM_001378454.1(ALMS1):c.646+2T>A rs1572911143
NM_001378454.1(ALMS1):c.646+2T>C rs1572911143
NM_001378454.1(ALMS1):c.647-2A>T rs1671310097
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.6487G>T (p.Glu2163Ter)
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs) rs1553404277
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs) rs1553404305
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6910A>T (p.Lys2304Ter)
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs) rs1553404368
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs) rs1553400437
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs) rs1553404457
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs) rs1553404473
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs) rs1217507627
NM_001378454.1(ALMS1):c.7540+1G>A
NM_001378454.1(ALMS1):c.7540+1G>T
NM_001378454.1(ALMS1):c.7540+2T>C rs1672009270
NM_001378454.1(ALMS1):c.7544G>A (p.Trp2515Ter)
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter) rs1672034468
NM_001378454.1(ALMS1):c.765-1G>C
NM_001378454.1(ALMS1):c.769del (p.Ile257fs) rs1553400675
NM_001378454.1(ALMS1):c.7777G>T (p.Glu2593Ter)
NM_001378454.1(ALMS1):c.7806T>A (p.Cys2602Ter)
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs) rs2103889898
NM_001378454.1(ALMS1):c.7898T>A (p.Leu2633Ter)
NM_001378454.1(ALMS1):c.7969_7975del (p.Phe2657fs)
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs) rs1553409656
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8077G>T (p.Glu2693Ter)
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs) rs1182262187
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.8435T>A (p.Leu2812Ter)
NM_001378454.1(ALMS1):c.8490T>A (p.Cys2830Ter)
NM_001378454.1(ALMS1):c.8529_8530insA (p.Leu2844fs) rs2103892164
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.9064C>T (p.Gln3022Ter)
NM_001378454.1(ALMS1):c.9121A>T (p.Arg3041Ter)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9226A>T (p.Lys3076Ter)
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs) rs1553400709
NM_001378454.1(ALMS1):c.9427A>T (p.Lys3143Ter)
NM_001378454.1(ALMS1):c.9539+1G>T rs1553409901
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs) rs1553412797
NM_001378454.1(ALMS1):c.9781+1G>C
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-1271_9845del
NM_001378454.1(ALMS1):c.9782-1G>A rs1673992163
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter) rs368412850
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs) rs1553414071
NM_001378454.1(ALMS1):c.9823A>T (p.Lys3275Ter)
NM_001378454.1(ALMS1):c.9850C>T (p.Gln3284Ter)
NM_001378454.1(ALMS1):c.985G>T (p.Glu329Ter)
NM_001378454.1(ALMS1):c.985_986del (p.Glu329fs)
NM_001378454.1(ALMS1):c.9907+1G>A
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676
NM_001378609.3(OTOGL):c.4279+1G>A rs2137876491
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_001378609.3(OTOGL):c.4600+1G>T
NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter) rs1477766714
NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter) rs2137943672
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs) rs2109070129
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs) rs1392635342
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001378789.1(CERS3):c.46del (p.Leu16fs) rs1596772428
NM_001379180.1(ESRRB):c.*1451C>G rs1485778712
NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys) rs138510486
NM_001379286.1(ZNF423):c.2555G>A (p.Gly852Glu) rs1596759273
NM_001382391.1(CSPP1):c.-10-1G>T
NM_001382391.1(CSPP1):c.-54_-51del
NM_001382391.1(CSPP1):c.100-2A>C
NM_001382391.1(CSPP1):c.1022+1G>C
NM_001382391.1(CSPP1):c.1022+1G>T rs2129547115
NM_001382391.1(CSPP1):c.1187+1G>A
NM_001382391.1(CSPP1):c.1188-2A>G
NM_001382391.1(CSPP1):c.1828-1G>C
NM_001382391.1(CSPP1):c.2129-2A>G rs2129559034
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) rs1827118960
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs) rs2129561783
NM_001382391.1(CSPP1):c.3110-1G>A rs1064795687
NM_001382391.1(CSPP1):c.3221-1G>A
NM_001382391.1(CSPP1):c.3330+1G>C rs1045070965
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3331-2A>G rs1836992042
NM_001382391.1(CSPP1):c.483+2T>A
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter) rs2051720336
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
NM_001384140.1(PCDH15):c.1305+1G>A rs758947077
NM_001384140.1(PCDH15):c.1305+1G>C rs758947077
NM_001384140.1(PCDH15):c.1305+1del rs1554833699
NM_001384140.1(PCDH15):c.1306-1G>T rs1299990309
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1440+2T>C rs1363688830
NM_001384140.1(PCDH15):c.1441-2A>C rs758482449
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter) rs2133801342
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
NM_001384140.1(PCDH15):c.157+1G>C rs1057516770
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1591-2A>C
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer) rs1554816541
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.1785-2A>C rs1057516474
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
NM_001384140.1(PCDH15):c.1917+1G>A
NM_001384140.1(PCDH15):c.1917+2T>C rs1554806149
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.1997+1G>T rs763797356
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer) rs765906921
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_001384140.1(PCDH15):c.2091+2T>C rs1554956023
NM_001384140.1(PCDH15):c.2092-2A>G
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter) rs2094144044
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs) rs2135322143
NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter) rs2091805733
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs) rs2134302083
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
NM_001384140.1(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_001384140.1(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_001384140.1(PCDH15):c.3009+1G>C
NM_001384140.1(PCDH15):c.3009+1G>T
NM_001384140.1(PCDH15):c.3010-1G>C rs2134277047
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_001384140.1(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3122+2T>A rs1554882546
NM_001384140.1(PCDH15):c.3123-1G>A rs1554873550
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3233-2A>G rs1554872194
NM_001384140.1(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
NM_001384140.1(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_001384140.1(PCDH15):c.3373+2T>C
NM_001384140.1(PCDH15):c.3374-1G>T rs1554852472
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs) rs2133664431
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
NM_001384140.1(PCDH15):c.3501+1G>T rs1402893508
NM_001384140.1(PCDH15):c.3502-2A>G rs1554836566
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_001384140.1(PCDH15):c.366del (p.Asn122fs) rs1589072933
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>C rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_001384140.1(PCDH15):c.3806+1G>C rs1554833227
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
NM_001384140.1(PCDH15):c.3984-1G>C rs1057520709
NM_001384140.1(PCDH15):c.3984-2A>C
NM_001384140.1(PCDH15):c.3984-2A>G rs1554824185
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu) rs2134714388
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_001384140.1(PCDH15):c.4211+1G>A rs1554823229
NM_001384140.1(PCDH15):c.4211+1del rs1554823231
NM_001384140.1(PCDH15):c.4211+2dup rs1057517419
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4367+2251G>A
NM_001384140.1(PCDH15):c.4367+2T>C rs1554822703
NM_001384140.1(PCDH15):c.4367+2dup
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
NM_001384140.1(PCDH15):c.475-2204_594+1766del
NM_001384140.1(PCDH15):c.475-2A>G
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter) rs1943288780
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter) rs1943286459
NM_001384140.1(PCDH15):c.594+1G>T rs1057516470
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_001384140.1(PCDH15):c.705+1G>A rs1554903842
NM_001384140.1(PCDH15):c.705+5G>A
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs) rs2133652254
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_001384140.1(PCDH15):c.876+1G>C rs2133646979
NM_001384140.1(PCDH15):c.876+2T>C
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_001384140.1(PCDH15):c.91+1G>A rs1565887701
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs) rs2144243196
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
NM_001384474.1(LOXHD1):c.2598+1G>A
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs) rs2144013371
NM_001384474.1(LOXHD1):c.3061+1G>T rs537227442
NM_001384474.1(LOXHD1):c.3350+1G>A rs1301706601
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) rs2143824066
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs) rs2144371589
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)
NM_001384474.1(LOXHD1):c.4095+1G>A rs1280052681
NM_001384474.1(LOXHD1):c.4096-1G>C rs749861944
NM_001384474.1(LOXHD1):c.4375+1G>T rs2036150181
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
NM_001384474.1(LOXHD1):c.4740+1G>A rs2144167172
NM_001384474.1(LOXHD1):c.4877-1G>A rs1598909650
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs) rs2032939837
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
NM_001384474.1(LOXHD1):c.6182+1G>T rs200375658
NM_001384474.1(LOXHD1):c.6342-1G>A
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) rs1434725624
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)
NM_001384732.1(CPLANE1):c.1122-2A>G
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs) rs926409425
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
NM_001384732.1(CPLANE1):c.7234-2_7234del
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter) rs1725580386
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter) rs1725671165
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter) rs1486643983
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter) rs1725702758
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter) rs1725826321
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
NM_001386140.1(MTTP):c.1558-2A>G rs1553927840
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter) rs1725886004
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter) rs1725953201
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter) rs1725996321
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter) rs1726001209
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter) rs1726166189
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) rs777548973
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter) rs1725178752
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
NM_001386140.1(MTTP):c.502-2A>G rs1725410386
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter) rs1725413862
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter) rs1283854712
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter) rs1725516307
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
NM_001393500.2(TOMT):c.285_286insCTCG (p.Glu96fs) rs1565331646
NM_001393500.2(TOMT):c.467del (p.Ile156fs)
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg) rs2116630442
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter) rs1579319300
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.20C>T (p.Ala7Val)
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe) rs2143779274
NM_001614.5(ACTG1):c.440G>A (p.Arg147His) rs2143779222
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val) rs2031770749
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) rs281875327
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys) rs2143775790
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) rs2143775617
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)
NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs)
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs) rs1680634325
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs) rs1553416787
NM_001692.4(ATP6V1B1):c.1449G>T (p.Lys483Asn) rs2104834809
NM_001692.4(ATP6V1B1):c.273+2T>A rs1680488861
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs)
NM_001692.4(ATP6V1B1):c.403A>T (p.Lys135Ter)
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter)
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter)
NM_001813.3(CENPE):c.2132-1G>C rs1754377539
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.360_362dup (p.Thr121dup)
NM_001814.6(CTSC):c.485+1G>A
NM_001814.6(CTSC):c.486-25_492del
NM_001814.6(CTSC):c.641+1G>A
NM_001814.6(CTSC):c.642-2A>G
NM_001814.6(CTSC):c.757+1G>T
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) rs150584960
NM_001983.4(ERCC1):c.231del (p.Thr78fs) rs2123520960
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del) rs756193571
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]
NM_002180.3(IGHMBP2):c.1060+1G>T rs1366461184
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) rs1178427226
NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu) rs35193202
NM_002180.3(IGHMBP2):c.1235+1G>T
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1236-1G>T rs1124336
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro) rs571142182
NM_002180.3(IGHMBP2):c.1418+1G>C rs1160978570
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro) rs2154008646
NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro) rs2154008654
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.3(IGHMBP2):c.1632+1G>T
NM_002180.3(IGHMBP2):c.1632+3del rs2154008712
NM_002180.3(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His) rs1240319744
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.256+5G>C
NM_002180.3(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002180.3(IGHMBP2):c.449+2T>A
NM_002180.3(IGHMBP2):c.449+2del
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.688C>G (p.Gln230Glu) rs1555243325
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs) rs1594427410
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.3(IGHMBP2):c.86+1G>T
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.905_912+85del
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714
NM_002226.5(JAG2):c.841G>T (p.Gly281Cys) rs1377648342
NM_002230.4(JUP):c.1158+1G>T rs2143591648
NM_002230.4(JUP):c.1654-2A>G
NM_002230.4(JUP):c.1924+1G>A rs1597781765
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002292.4(LAMB2):c.130del (p.Arg44fs) rs2107645768
NM_002292.4(LAMB2):c.1488del (p.Leu496_Val497insTer) rs2107643014
NM_002292.4(LAMB2):c.1599-1G>T rs1330915067
NM_002292.4(LAMB2):c.2700_2701del (p.Gly901_Gly902insTer)
NM_002292.4(LAMB2):c.3109+1G>T rs888830612
NM_002292.4(LAMB2):c.386-11_393del
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs) rs2045366127
NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs)
NM_002292.4(LAMB2):c.4923+2T>G
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg) rs2045472442
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln) rs2153153067
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu) rs1158745675
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.2371A>G (p.Met791Val)
NM_002335.4(LRP5):c.3028-1G>A
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) rs1326459816
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.781-2A>T
NM_002454.3(MTRR):c.903+1G>A
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.916del (p.Ser306fs) rs1212701617
NM_002454.3(MTRR):c.973_1146+462del
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002485.4(NBN):c.2185-?_*(1_?)del
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1124+1G>A rs1057517209
NM_002485.5(NBN):c.1124+1G>C rs1057517209
NM_002485.5(NBN):c.1124+2T>G rs1554560352
NM_002485.5(NBN):c.1125-1G>A rs1057517102
NM_002485.5(NBN):c.1125-1G>C
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter) rs1554559308
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1G>A
NM_002485.5(NBN):c.1397+1_1397+3delinsACA
NM_002485.5(NBN):c.1397+1_1397+9del rs2129716262
NM_002485.5(NBN):c.1397+2T>A rs730881850
NM_002485.5(NBN):c.1398-2A>G rs2129704501
NM_002485.5(NBN):c.144_145del (p.Leu48fs)
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs) rs1554558449
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1581_1597del (p.Asp527fs)
NM_002485.5(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.5(NBN):c.1622_1634del (p.Ala541fs)
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1689_1690del (p.Glu564fs)
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.171+1G>C rs931715719
NM_002485.5(NBN):c.171+1G>T rs931715719
NM_002485.5(NBN):c.172-1G>A rs1391598284
NM_002485.5(NBN):c.172-1G>T rs1391598284
NM_002485.5(NBN):c.172-2A>T rs2129916685
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1767del (p.Arg590fs)
NM_002485.5(NBN):c.178dup (p.Thr60fs) rs1057516392
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.1845+2T>C rs1586052622
NM_002485.5(NBN):c.1845+2T>G
NM_002485.5(NBN):c.1846-1G>A rs61753717
NM_002485.5(NBN):c.1846-1G>T rs61753717
NM_002485.5(NBN):c.1846-726_1895del
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1896del (p.Trp632fs)
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.1911_1914+1del rs1554556880
NM_002485.5(NBN):c.1914+1G>T
NM_002485.5(NBN):c.1914+2T>G rs2129659522
NM_002485.5(NBN):c.1914+2_1914+3del rs1586043528
NM_002485.5(NBN):c.1923del (p.Asp641fs)
NM_002485.5(NBN):c.1968_1969del (p.Leu656fs)
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs) rs1057516852
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs) rs1057516869
NM_002485.5(NBN):c.2051dup (p.Asn684fs) rs1586040200
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2070+1G>T rs1554556454
NM_002485.5(NBN):c.2070+2T>A rs786203223
NM_002485.5(NBN):c.2070+2T>G rs786203223
NM_002485.5(NBN):c.2071-1175_2184+2del
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2071-1G>T
NM_002485.5(NBN):c.2071-2A>C rs775397477
NM_002485.5(NBN):c.2071-2A>G rs775397477
NM_002485.5(NBN):c.2071-2A>T
NM_002485.5(NBN):c.2119_2141del (p.Asp707fs) rs1554555782
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.2127dup (p.Ala710fs)
NM_002485.5(NBN):c.2128_2132del (p.Ala710fs) rs2130755743
NM_002485.5(NBN):c.2132_2133del (p.His711fs) rs2130755717
NM_002485.5(NBN):c.2141_2142del (p.Arg714fs) rs2130755572
NM_002485.5(NBN):c.2144dup (p.Asn716fs) rs1810033982
NM_002485.5(NBN):c.2150_2157del (p.Thr717fs) rs2130755422
NM_002485.5(NBN):c.2154_2155insGGAA (p.Leu719fs) rs2130755457
NM_002485.5(NBN):c.2155_2156del (p.Leu719fs)
NM_002485.5(NBN):c.2160dup (p.Glu721fs)
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.5(NBN):c.2173del (p.Gln725fs) rs2130755261
NM_002485.5(NBN):c.2184+1G>A rs756363734
NM_002485.5(NBN):c.2184+2T>A rs75823099
NM_002485.5(NBN):c.2184+2T>G rs75823099
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2187dup (p.Gln730fs) rs2130739402
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter) rs1554554265
NM_002485.5(NBN):c.2226_2234+4del rs1563497529
NM_002485.5(NBN):c.2234+1G>A rs1586024147
NM_002485.5(NBN):c.2234+1G>T rs1586024147
NM_002485.5(NBN):c.2235-2A>G rs767094704
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.307G>T (p.Gly103Ter)
NM_002485.5(NBN):c.313A>T (p.Lys105Ter)
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.320+1G>A rs1364533250
NM_002485.5(NBN):c.321-1G>A
NM_002485.5(NBN):c.321-2A>G rs587777931
NM_002485.5(NBN):c.35_37+10del rs781710700
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs) rs1554567960
NM_002485.5(NBN):c.432del (p.Glu145fs) rs1554567902
NM_002485.5(NBN):c.47_51del (p.Tyr16fs)
NM_002485.5(NBN):c.480+2T>G
NM_002485.5(NBN):c.530_531del (p.Phe177fs)
NM_002485.5(NBN):c.531del (p.Phe177fs) rs1057516787
NM_002485.5(NBN):c.584+1G>A rs1811862598
NM_002485.5(NBN):c.584+1G>T
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.585-1G>A rs1394578008
NM_002485.5(NBN):c.585-1_585delinsC rs786203662
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.589del (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.590dup (p.Tyr197Ter) rs1554564309
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.702+1G>C rs1057517104
NM_002485.5(NBN):c.702+1G>T rs1057517104
NM_002485.5(NBN):c.702+1del rs1586088347
NM_002485.5(NBN):c.702+2T>A rs1811497703
NM_002485.5(NBN):c.702+2T>C rs1811497703
NM_002485.5(NBN):c.702+2del
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
NM_002485.5(NBN):c.803del (p.Thr268fs)
NM_002485.5(NBN):c.848del (p.Pro283fs) rs2129827996
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.896+1G>A rs778306619
NM_002485.5(NBN):c.896+1G>T rs778306619
NM_002485.5(NBN):c.896+2T>C rs754659423
NM_002485.5(NBN):c.897-1G>A rs1586076299
NM_002485.5(NBN):c.897-2A>G rs864622090
NM_002485.5(NBN):c.89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.5(NBN):c.962del (p.Asn321fs) rs1586075907
NM_002485.5(NBN):c.962dup (p.Asn321fs)
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.994+2T>C rs1586075690
NM_002485.5(NBN):c.995-1G>C rs1554560523
NM_002485.5(NBN):c.995-1G>T rs1554560523
NM_002485.5(NBN):c.995-23_998inv
NM_002485.5(NBN):c.995-2A>C rs876659521
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.995G>A (p.Gly332Glu) rs2129747182
NM_002617.4(PEX10):c.113-1G>C
NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)
NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
NM_002617.4(PEX10):c.142dup (p.Glu48fs)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)
NM_002617.4(PEX10):c.20del (p.Ser7fs) rs1553232926
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) rs531987102
NM_002617.4(PEX10):c.222_223del (p.Ser75fs)
NM_002617.4(PEX10):c.247_251del (p.Arg83fs)
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.335_338del (p.Pro112fs) rs2100429450
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs) rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)
NM_002617.4(PEX10):c.445_452del (p.Thr149fs)
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.522_523del (p.Gln175fs)
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.587del (p.Thr196fs)
NM_002617.4(PEX10):c.592del (p.Ile198fs)
NM_002617.4(PEX10):c.600+1del rs1553232077
NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)
NM_002617.4(PEX10):c.601-18dup
NM_002617.4(PEX10):c.601-24_601-23del rs1553231875
NM_002617.4(PEX10):c.601-26_601-25delinsCTC rs1553231888
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.601-61G>A
NM_002617.4(PEX10):c.618del (p.Gly208fs)
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer) rs768893724
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter) rs1295555837
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.773_776+17del
NM_002617.4(PEX10):c.776+1G>A
NM_002617.4(PEX10):c.776+1G>C rs869312935
NM_002617.4(PEX10):c.776+2T>A rs1335685844
NM_002617.4(PEX10):c.777-1G>A
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter) rs769251149
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.813_814del (p.Leu272fs)
NM_002617.4(PEX10):c.815del (p.Leu272fs) rs1553231783
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.844_848del (p.His282fs)
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.912+1G>A rs1553231739
NM_002617.4(PEX10):c.912+1G>C rs1553231739
NM_002617.4(PEX10):c.916del (p.Glu306fs) rs2100419143
NM_002618.4(PEX13):c.787+1G>A rs2104803776
NM_002618.4(PEX13):c.92+1G>A
NM_002618.4(PEX13):c.93-1G>A
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_002693.3(POLG):c.67_88del (p.Gly23fs) rs2055630470
NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu) rs1561590396
NM_002700.3(POU4F3):c.479del (p.Gly160fs)
NM_002700.3(POU4F3):c.494_497del (p.His165fs)
NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro) rs1760430376
NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp) rs1760431636
NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro)
NM_002700.3(POU4F3):c.879C>G (p.Phe293Leu)
NM_002700.3(POU4F3):c.952G>A (p.Val318Met) rs2126962041
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
NM_002855.5(NECTIN1):c.226C>T (p.Gln76Ter)
NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter) rs2135551778
NM_002857.4(PEX19):c.180+1G>T rs1320716582
NM_002857.4(PEX19):c.181-2A>G rs2101804905
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
NM_002857.4(PEX19):c.346+2T>C rs1657837348
NM_002857.4(PEX19):c.594+1G>C
NM_002857.4(PEX19):c.70+2T>G
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter) rs2045882525
NM_002906.4(RDX):c.-64-1215_12+348del
NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter) rs1308348441
NM_002906.4(RDX):c.295C>T (p.Gln99Ter)
NM_002906.4(RDX):c.513_514del (p.Arg171fs) rs2134364635
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs) rs1221107969
NM_003052.5(SLC34A1):c.1175-3C>A rs2127355139
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup) rs777543926
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.527_528del (p.Ser176fs)
NM_003052.5(SLC34A1):c.532+2T>C rs1762582225
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala) rs1554095500
NM_003104.6(SORD):c.361G>C (p.Ala121Pro)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003193.5(TBCE):c.355_356del (p.Ile119fs) rs1572391840
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer) rs727503559
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn) rs386833839
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg) rs386833841
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter) rs386833842
NM_003383.5(VLDLR):c.1962+1G>A rs2130801524
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)
NM_003383.5(VLDLR):c.2252-2A>C
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter) rs2130810631
NM_003383.5(VLDLR):c.262dup (p.Arg88fs) rs2130785730
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr) rs797046092
NM_003383.5(VLDLR):c.325+1G>A
NM_003383.5(VLDLR):c.325+1del
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)
NM_003384.2(VRK1):c.318_889+1945del
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs) rs2139845924
NM_003384.3(VRK1):c.156_160+3del rs1566696845
NM_003384.3(VRK1):c.160+1G>T rs2139749072
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu) rs2139779062
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.402_890-895del
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_003384.3(VRK1):c.812T>C (p.Val271Ala) rs2139804166
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.889+1G>A rs1482696609
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs) rs1553541329
NM_003494.4(DYSF):c.1A>G (p.Met1Val) rs1259378167
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) rs1459713589
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs) rs1553495983
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs) rs760638778
NM_003630.3(PEX3):c.144C>A (p.Tyr48Ter)
NM_003630.3(PEX3):c.331+1G>C
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg) rs1562654527
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro) rs1473197986
NM_003672.4(CDC14A):c.50-1G>T rs2100872719
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro) rs1339709390
NM_003673.4(TCAP):c.110+1G>A rs113187448
NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter) rs863224933
NM_003673.4(TCAP):c.32C>A (p.Ser11Ter) rs45495192
NM_003673.4(TCAP):c.34dup (p.Glu12fs) rs1555606959
NM_003701.4(TNFSF11):c.667C>T (p.Arg223Ter) rs267603829
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu) rs1185010700
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu) rs1554763770
NM_003801.4(GPAA1):c.367-1G>A
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn) rs2145289462
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr) rs2145309285
NM_003839.4(TNFRSF11A):c.443A>T (p.Asp148Val)
NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003896.4(ST3GAL5):c.207-2A>C rs2104059095
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) rs754643632
NM_003896.4(ST3GAL5):c.662+2T>C
NM_003896.4(ST3GAL5):c.663-1G>A
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp) rs1573589807
NM_003896.4(ST3GAL5):c.83-4119G>A
NM_003896.4(ST3GAL5):c.850-1G>A rs2103936382
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.130_131del (p.Trp44fs) rs1555341993
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) rs587783645
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser) rs1064797090
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.232G>A (p.Ala78Thr) rs1959060696
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.247_249del (p.Phe83del) rs2137308192
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.257del (p.Thr86fs) rs1555341949
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer) rs1555341926
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) rs150529554
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.409A>C (p.Thr137Pro) rs2137307658
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)
NM_004004.6(GJB2):c.49_50del (p.Ser17fs) rs1555342007
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) rs760489970
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.668_671del (p.Lys223fs) rs1555341783
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004056.6(CA8):c.100+1G>A rs1563390893
NM_004056.6(CA8):c.475A>T (p.Lys159Ter) rs79267946
NM_004056.6(CA8):c.730dup (p.Gln244fs) rs1807291595
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val) rs1557458426
NM_004086.3(COCH):c.1053C>A (p.Cys351Ter) rs1895773215
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter) rs1562505728
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter) rs1305000119
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter) rs1794473050
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp) rs778980446
NM_004153.4(ORC1):c.688dup (p.Thr230fs)
NM_004153.4(ORC1):c.[2483C>T;2484del]
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004260.4(RECQL4):c.1390+1G>T rs1085307090
NM_004260.4(RECQL4):c.1885_1888del (p.Arg629fs) rs386833846
NM_004260.4(RECQL4):c.1887_1890del (p.Glu630fs) rs386833847
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004260.4(RECQL4):c.3214A>T (p.Arg1072Ter) rs386833853
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.4(RECQL4):c.3561C>G (p.Tyr1187Ter)
NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs) rs386833854
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) rs1586824938
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_004393.6(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_004393.6(DAG1):c.721_722del (p.Phe241fs)
NM_004393.6(DAG1):c.751del (p.Val251fs) rs1575410881
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004447.6(EPS8):c.1435-2A>T rs1945336251
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter) rs372938477
NM_004525.3(LRP2):c.11868del (p.Trp3956fs)
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His) rs2105348670
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.13568del (p.Asn4523fs) rs1685554004
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter) rs2105329431
NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter) rs1236195196
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) rs1358532875
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe) rs2105467271
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys) rs770528099
NM_004539.4(NARS1):c.179A>C (p.Lys60Thr) rs1908005677
NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)
NM_004539.4(NARS1):c.676G>C (p.Val226Leu) rs778244918
NM_004539.4(NARS1):c.713G>A (p.Arg238Gln) rs2122431077
NM_004539.4(NARS1):c.965G>T (p.Arg322Leu) rs2122429938
NM_004539.4(NARS1):c.986G>A (p.Arg329Gln) rs976688001
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) rs2118683688
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) rs2118683614
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) rs2118626297
NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs) rs1587655016
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter) rs1448877786
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) rs1489361512
NM_004560.4(ROR2):c.1856G>A (p.Arg619His)
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) rs2118616453
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) rs980417569
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) rs767802430
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) rs1434209233
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) rs1587690611
NM_004560.4(ROR2):c.494+4_494+7del rs2118839436
NM_004560.4(ROR2):c.623-11G>A rs1350375399
NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) rs56302651
NM_004560.4(ROR2):c.854A>G (p.Lys285Arg)
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) rs2118699409
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
NM_004565.3(PEX14):c.298+1G>C
NM_004565.3(PEX14):c.299-5_306del
NM_004565.3(PEX14):c.36+1G>T rs1641167602
NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile) rs1225963332
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter) rs1648636515
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg) rs2148319465
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser) rs876657841
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser) rs137853969
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) rs1578860322
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
NM_004813.4(PEX16):c.112+2T>G rs1590798080
NM_004813.4(PEX16):c.149-2A>G
NM_004813.4(PEX16):c.226-2A>C
NM_004813.4(PEX16):c.359+1G>A
NM_004813.4(PEX16):c.460+5G>A rs2134695257
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)
NM_004813.4(PEX16):c.694+1G>A rs2134692847
NM_004813.4(PEX16):c.887+2T>G rs2134691627
NM_004813.4(PEX16):c.888-1G>C
NM_004813.4(PEX16):c.888-2A>C rs2086772786
NM_004813.4(PEX16):c.995_997del (p.Phe332del) rs797045062
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) rs1775982467
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_004830.4(MED23):c.479T>C (p.Leu160Pro) rs786205583
NM_004836.7(EIF2AK3):c.1002+1G>C
NM_004836.7(EIF2AK3):c.1002+2T>C
NM_004836.7(EIF2AK3):c.1306+1G>A
NM_004836.7(EIF2AK3):c.1306+1G>C
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs) rs1674719462
NM_004836.7(EIF2AK3):c.1578dup (p.Ala527fs)
NM_004836.7(EIF2AK3):c.1764-2A>G rs1674549393
NM_004836.7(EIF2AK3):c.1886+2T>C
NM_004836.7(EIF2AK3):c.2125del (p.Ile709fs)
NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter)
NM_004836.7(EIF2AK3):c.2588del (p.Thr862_Leu863insTer)
NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter)
NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys)
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs) rs2104387177
NM_004836.7(EIF2AK3):c.3088-1G>C
NM_004836.7(EIF2AK3):c.439del
NM_004836.7(EIF2AK3):c.598_599del (p.Leu200fs)
NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys) rs1327996297
NM_004836.7(EIF2AK3):c.672G>A (p.Trp224Ter)
NM_004937.3(CTNS):c.-19-1G>A rs1555558034
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln) rs1057517330
NM_004937.3(CTNS):c.120dup (p.Asn41fs)
NM_004937.3(CTNS):c.140+1G>C
NM_004937.3(CTNS):c.140+1_140+20del
NM_004937.3(CTNS):c.140+2T>C rs2075872773
NM_004937.3(CTNS):c.141-1G>A rs2075906916
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del) rs786204550
NM_004937.3(CTNS):c.20del (p.Thr7fs) rs1555558078
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5G>A
NM_004937.3(CTNS):c.225+5_225+6delinsCC rs786204541
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.226-1G>A
NM_004937.3(CTNS):c.226-1G>C
NM_004937.3(CTNS):c.236del (p.Pro79fs)
NM_004937.3(CTNS):c.251del (p.Asn84fs) rs1057516296
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter) rs376042415
NM_004937.3(CTNS):c.320_323del (p.Asn107fs) rs1555562830
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.329+2T>C rs955833453
NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter) rs2076100759
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly) rs1555563010
NM_004937.3(CTNS):c.462-1G>A
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys) rs2150922764
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.562-1G>C
NM_004937.3(CTNS):c.562-2A>G
NM_004937.3(CTNS):c.562-2_562-1del rs1555563521
NM_004937.3(CTNS):c.587dup (p.Asn196fs) rs1597654857
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer) rs1555563568
NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)
NM_004937.3(CTNS):c.61+1G>A rs1555558116
NM_004937.3(CTNS):c.61+1G>T rs1555558116
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter) rs2150889009
NM_004937.3(CTNS):c.62-2A>G rs1555560637
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)
NM_004937.3(CTNS):c.681+1del rs1555563658
NM_004937.3(CTNS):c.681+2T>C rs1057516723
NM_004937.3(CTNS):c.682-1G>A rs1057516771
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter) rs1463026342
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe) rs2150925336
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) rs2150925451
NM_004937.3(CTNS):c.852+1G>A rs2150925483
NM_004937.3(CTNS):c.853-1G>A rs1555564588
NM_004937.3(CTNS):c.853-2A>G rs1475322504
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter) rs1555564600
NM_004937.3(CTNS):c.877dup (p.Ser293fs)
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)
NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)
NM_004937.3(CTNS):c.971-1G>C rs2142982540
NM_004937.3(CTNS):c.971-1dup rs1555564823
NM_004937.3(CTNS):c.971-2dup
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)
NM_004999.4(MYO6):c.2416+2T>C
NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln) rs2149367858
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) rs1060499799
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs) rs1309599304
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005199.5(CHRNG):c.351-2A>G
NM_005199.5(CHRNG):c.351-9T>C rs764382582
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) rs2106221597
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr) rs2106221995
NM_005219.5(DIAPH1):c.1280+2T>G rs2154596416
NM_005219.5(DIAPH1):c.144+2T>G
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs) rs2154596304
NM_005219.5(DIAPH1):c.2676+2T>G
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg) rs1596339533
NM_005219.5(DIAPH1):c.402+2T>C rs2154596613
NM_005219.5(DIAPH1):c.621-2A>G rs2099896905
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.388+1164_792+795del
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005422.4(TECTA):c.102del (p.Asn34fs) rs2135050168
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.4(TECTA):c.1774G>A (p.Val592Met) rs1565522273
NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter)
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr) rs1947056659
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro) rs1947057220
NM_005422.4(TECTA):c.569C>T (p.Thr190Met)
NM_005422.4(TECTA):c.6162+5G>A rs1565541888
NM_005422.4(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_005522.5(HOXA1):c.669C>A (p.Tyr223Ter) rs769512832
NM_005529.7(HSPG2):c.1030T>C (p.Cys344Arg)
NM_005529.7(HSPG2):c.11208-7G>A rs1336552092
NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp) rs543805444
NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter) rs1215934207
NM_005529.7(HSPG2):c.1219del (p.Gln407fs)
NM_005529.7(HSPG2):c.12900-2A>G
NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)
NM_005529.7(HSPG2):c.1654+5G>A rs1572356343
NM_005529.7(HSPG2):c.4740+5G>A rs886039909
NM_005529.7(HSPG2):c.4955+1G>C rs139944523
NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)
NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg) rs2098038156
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg) rs1294413650
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter) rs1308325707
NM_005645.4(TAF13):c.204+1G>T rs2102105455
NM_005687.5(FARSB):c.848+1G>A rs777071414
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005797.4(MPZL2):c.226-1G>A rs1949708829
NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)
NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs) rs2134734280
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005807.6(PRG4):c.23_26dup (p.Leu11fs)
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs) rs768053349
NM_005807.6(PRG4):c.3735_3736insAG (p.Ala1246fs) rs1657235121
NM_005807.6(PRG4):c.4029G>A (p.Trp1343Ter)
NM_005807.6(PRG4):c.962T>A (p.Leu321Ter) rs2102020754
NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.469C>T (p.Gln157Ter) rs776620952
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del) rs1555475375
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly) rs760424025
NM_005861.4(STUB1):c.779A>C (p.His260Pro) rs2151506687
NM_005866.4(SIGMAR1):c.152-2A>T rs2132329744
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys) rs757260058
NM_005876.5(SPEG):c.2183del (p.Leu728fs) rs1575065895
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
NM_005876.5(SPEG):c.7795G>T (p.Glu2599Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter) rs369521689
NM_005881.4(BCKDK):c.979C>T (p.Arg327Trp)
NM_005982.4(SIX1):c.316G>T (p.Val106Leu) rs2140241235
NM_005982.4(SIX1):c.329G>T (p.Arg110Leu) rs1064794308
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) rs1060499595
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs)
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro) rs1131691778
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006012.4(CLPP):c.173T>G (p.Leu58Arg) rs980193170
NM_006012.4(CLPP):c.233G>C (p.Arg78Pro) rs1599193093
NM_006012.4(CLPP):c.299T>C (p.Ile100Thr) rs2145048931
NM_006012.4(CLPP):c.439T>A (p.Cys147Ser) rs2091852209
NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)
NM_006016.6(CD164):c.574C>T (p.Arg192Ter) rs876661402
NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)
NM_006019.4(TCIRG1):c.1020+1G>T
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs)
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
NM_006019.4(TCIRG1):c.1128del (p.Asp376fs)
NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.117+5G>A rs2134430922
NM_006019.4(TCIRG1):c.1211del (p.Phe404fs)
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1306-1G>A rs1554997884
NM_006019.4(TCIRG1):c.1306-2A>T rs1855570841
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg) rs2134455141
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs) rs1554997997
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) rs1554998061
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs) rs2134455711
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
NM_006019.4(TCIRG1):c.1554+1G>A
NM_006019.4(TCIRG1):c.1554+1G>T rs1439348400
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter) rs1057517365
NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)
NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs)
NM_006019.4(TCIRG1):c.1673+2T>C
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.16del (p.Arg6fs)
NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)
NM_006019.4(TCIRG1):c.1812del (p.Ser605fs)
NM_006019.4(TCIRG1):c.1884del (p.Gln629fs)
NM_006019.4(TCIRG1):c.1887+1G>A
NM_006019.4(TCIRG1):c.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1888-1G>T rs2134462513
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)
NM_006019.4(TCIRG1):c.1978del (p.Arg660fs) rs2134462969
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) rs1554995009
NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs)
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)
NM_006019.4(TCIRG1):c.2321del (p.Val774fs)
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)
NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer)
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)
NM_006019.4(TCIRG1):c.2414+1G>T
NM_006019.4(TCIRG1):c.2415-1G>C rs1590819770
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.2450dup (p.Tyr818fs) rs1590819834
NM_006019.4(TCIRG1):c.245del (p.Pro82fs)
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.304del (p.Glu102fs)
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter) rs903939170
NM_006019.4(TCIRG1):c.390del (p.Val131fs)
NM_006019.4(TCIRG1):c.418-1G>C
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)
NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs)
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter) rs1554995330
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs) rs1554995350
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter) rs1385741705
NM_006019.4(TCIRG1):c.503+1G>A rs1554995381
NM_006019.4(TCIRG1):c.503+5G>A
NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs)
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter) rs2134437954
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) rs1554995522
NM_006019.4(TCIRG1):c.630+1G>T rs1554995582
NM_006019.4(TCIRG1):c.674del (p.Gly225fs) rs1590804397
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs) rs1554995706
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
NM_006019.4(TCIRG1):c.713+1G>C rs774308815
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)
NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)
NM_006019.4(TCIRG1):c.766del (p.Ala256fs)
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)
NM_006019.4(TCIRG1):c.807+1G>A
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257
NM_006019.4(TCIRG1):c.808-2A>C
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs) rs1182235762
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs) rs1855343916
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs) rs1855347940
NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006118.4(HAX1):c.504+1G>A rs2149140065
NM_006118.4(HAX1):c.54-2A>T rs764765550
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.556+1G>C rs1684901295
NM_006118.4(HAX1):c.557-1G>A
NM_006118.4(HAX1):c.557-1G>C rs1684904805
NM_006118.4(HAX1):c.664-1G>T rs2149140690
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)
NM_006383.4(CIB2):c.199-1G>A
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) rs370965183
NM_006397.3(RNASEH2A):c.127+1G>C
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.199+1G>C
NM_006397.3(RNASEH2A):c.200-1G>T
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu) rs2145824951
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.323+1G>A rs1388246689
NM_006397.3(RNASEH2A):c.549+1G>A
NM_006397.3(RNASEH2A):c.549+1G>T
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.638-2A>G rs2145830162
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs) rs1403542725
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter) rs2086712538
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
NM_006432.5(NPC2):c.190+1G>C
NM_006432.5(NPC2):c.191-1G>A
NM_006432.5(NPC2):c.191-1_193del rs1555345873
NM_006432.5(NPC2):c.1A>G (p.Met1Val) rs1555346369
NM_006432.5(NPC2):c.218del (p.Val73fs)
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) rs1376058648
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter) rs2086687936
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp) rs2086687936
NM_006432.5(NPC2):c.2T>C (p.Met1Thr) rs1555346368
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter) rs2086687862
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter) rs2086687425
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter) rs2086687086
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
NM_006432.5(NPC2):c.363+1G>A
NM_006432.5(NPC2):c.364-2A>G rs777654308
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)
NM_006432.5(NPC2):c.91del (p.Asp31fs)
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
NM_006618.5(KDM5B):c.2945+1G>A rs2102232815
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs) rs1572705473
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
NM_006642.3:c.1069_1356del
NM_006642.5(SDCCAG8):c.1068+1G>A
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1356+1G>C rs2147782314
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1617-1G>A
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_006642.5(SDCCAG8):c.1853+2T>A
NM_006642.5(SDCCAG8):c.1853+2T>C
NM_006642.5(SDCCAG8):c.221-1G>A rs2068036602
NM_006642.5(SDCCAG8):c.420+1G>C
NM_006642.5(SDCCAG8):c.547-1G>A rs2070433656
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
NM_006721.4(ADK):c.813dup (p.Asn272fs) rs1589286482
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.310del (p.Arg104fs) rs879253868
NM_006736.6(DNAJB2):c.353-1G>C
NM_006736.6(DNAJB2):c.445+1G>A
NM_006736.6(DNAJB2):c.446-1G>A rs2125082935
NM_006736.6(DNAJB2):c.446-2A>G rs758322672
NM_006736.6(DNAJB2):c.65+1G>A
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys) rs1018405924
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
NM_006765.4(TUSC3):c.568-2A>G rs2129179995
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly) rs764254189
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006846.4(SPINK5):c.1280del (p.Ser427fs) rs1753640069
NM_006846.4(SPINK5):c.1430+1G>T rs1309309448
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.1480-2A>G rs773865874
NM_006846.4(SPINK5):c.2015+1G>T
NM_006846.4(SPINK5):c.209+1G>A rs1752708600
NM_006846.4(SPINK5):c.210-2A>C
NM_006846.4(SPINK5):c.2113-2A>G
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
NM_006846.4(SPINK5):c.2441+3_2441+6del rs1221030255
NM_006846.4(SPINK5):c.2739+1G>T
NM_006846.4(SPINK5):c.2965-1G>A
NM_006846.4(SPINK5):c.3095+2T>C
NM_006846.4(SPINK5):c.602+1G>T
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006892.4(DNMT3B):c.1996+2T>A
NM_006892.4(DNMT3B):c.2009G>A (p.Arg670Gln)
NM_006892.4(DNMT3B):c.2146-1G>C
NM_006892.4(DNMT3B):c.2296G>C (p.Ala766Pro)
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly) rs2146098171
NM_006892.4(DNMT3B):c.433-2A>G
NM_006892.4(DNMT3B):c.654+1G>C
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs) rs2041157497
NM_006907.4(PYCR1):c.386_387insCGCA (p.Glu130fs)
NM_006907.4(PYCR1):c.540+1G>T rs752297179
NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr) rs2143872369
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007248.3(TREX1):c.1033_1050del rs1575295176
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_012205.3(HAAO):c.243+1G>A rs1232096291
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_012208.4(HARS2):c.1273C>T (p.Arg425Trp)
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln) rs1562047621
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala) rs748402163
NM_012208.4(HARS2):c.399+1G>A rs2149852789
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln) rs778499309
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.722A>G (p.Tyr241Cys)
NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter) rs2104943498
NM_012233.3(RAB3GAP1):c.2290-17_2290del
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs) rs2104879312
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)
NM_012414.4(RAB3GAP2):c.1040+1G>T
NM_012414.4(RAB3GAP2):c.1201del (p.Ala400_Val401insTer)
NM_012414.4(RAB3GAP2):c.1715-1G>A
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) rs761761205
NM_012448.4(STAT5B):c.1681-2A>G
NM_012448.4(STAT5B):c.1906+1G>A rs750399917
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg) rs770968991
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) rs755804651
NM_013322.3(SNX10):c.302del (p.Phe101fs)
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter) rs2125629897
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
NM_013382.7(POMT2):c.1254-2A>G
NM_013382.7(POMT2):c.1329_1332+5del rs1566648219
NM_013382.7(POMT2):c.1484+1G>A
NM_013382.7(POMT2):c.1654-2A>T
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro) rs370529777
NM_013382.7(POMT2):c.1891+1G>C
NM_013382.7(POMT2):c.1891+2T>C rs1594884932
NM_013382.7(POMT2):c.1892-1G>C
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.2032+1G>A rs2140161850
NM_013382.7(POMT2):c.2159del (p.Phe720fs) rs1890013661
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.7(POMT2):c.333+1G>T
NM_013382.7(POMT2):c.548-2A>G
NM_013382.7(POMT2):c.656+1G>A
NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_014009.4(FOXP3):c.648-2A>G rs2147947553
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
NM_014168.4(METTL5):c.541+1G>C rs1467526653
NM_014264.5(PLK4):c.1177_1181del (p.Thr393fs)
NM_014264.5(PLK4):c.2562+1G>C rs1473460404
NM_014321.4(ORC6):c.360-1G>T
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter) rs1208703297
NM_014363.5(SACS):c.[11624G>A];[7276C>T]
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs) rs1555250395
NM_014363.6(SACS):c.10050del (p.His3351fs) rs1555250383
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter) rs1555250359
NM_014363.6(SACS):c.10090del (p.Ala3364fs) rs1057517383
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs) rs2137577962
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer) rs1555250191
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
NM_014363.6(SACS):c.10536del (p.Ile3513fs) rs1555250183
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) rs1057517002
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.10854del (p.Glu3619fs) rs1057516773
NM_014363.6(SACS):c.1085del (p.Lys362fs) rs1057517242
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) rs1057516578
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs) rs1555250022
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) rs1555250016
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) rs756597098
NM_014363.6(SACS):c.1105_1106del (p.Thr369fs)
NM_014363.6(SACS):c.11081dup (p.Cys3694fs) rs1057516856
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter) rs1883571494
NM_014363.6(SACS):c.11100dup (p.Trp3701fs) rs1883571351
NM_014363.6(SACS):c.11109del (p.Cys3704fs) rs2137569412
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs) rs1555249977
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter) rs1555249966
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) rs1057516398
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) rs753205260
NM_014363.6(SACS):c.11261del (p.Asn3754fs)
NM_014363.6(SACS):c.1126_1127del (p.Asn376fs)
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11282del (p.Leu3761fs) rs2137567996
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.1137dup (p.Glu380fs) rs1057516987
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
NM_014363.6(SACS):c.11428dup (p.Glu3810fs) rs1555249894
NM_014363.6(SACS):c.11506_11521del (p.His3836fs) rs1555249878
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter) rs1555249881
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) rs1555249826
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
NM_014363.6(SACS):c.11713del (p.Ala3906fs) rs1555249797
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter) rs745740932
NM_014363.6(SACS):c.11731del (p.Ser3911fs) rs1057517232
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter) rs1555249789
NM_014363.6(SACS):c.1178T>A (p.Leu393Ter)
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter) rs1555249766
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) rs1555249745
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del) rs2137561854
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) rs1555249695
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
NM_014363.6(SACS):c.12150del (p.Phe4050fs) rs1555249662
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter) rs1555249633
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs) rs1555249607
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs) rs1555249599
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
NM_014363.6(SACS):c.12540del (p.Glu4180fs) rs1057516347
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
NM_014363.6(SACS):c.12766del (p.Asp4256fs) rs1555249479
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
NM_014363.6(SACS):c.12779del (p.Ser4260fs) rs1555249460
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs) rs1555249338
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs) rs1555249326
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs) rs1883405453
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) rs1555249276
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter) rs753277514
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro) rs745961541
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.1437G>A (p.Trp479Ter)
NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)
NM_014363.6(SACS):c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs)
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter) rs2137720760
NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer) rs1057516543
NM_014363.6(SACS):c.171+1G>A
NM_014363.6(SACS):c.1716_1717del (p.Glu573fs)
NM_014363.6(SACS):c.172-2A>G
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu) rs2137718533
NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs)
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
NM_014363.6(SACS):c.1929T>A (p.Cys643Ter)
NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs)
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
NM_014363.6(SACS):c.1968_1969del (p.Asp657fs)
NM_014363.6(SACS):c.2076del (p.Ser693fs) rs1057516224
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2185+1G>T
NM_014363.6(SACS):c.2186-2A>G rs1057516554
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) rs1555252953
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
NM_014363.6(SACS):c.2329dup (p.Ser777fs) rs1555252944
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) rs1057517437
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
NM_014363.6(SACS):c.23G>A (p.Trp8Ter) rs1871684539
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter) rs1555252929
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs) rs1555252928
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs) rs1555252926
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter) rs1555252876
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) rs142037771
NM_014363.6(SACS):c.257del (p.Gly86fs)
NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)
NM_014363.6(SACS):c.2620del (p.Ser874fs)
NM_014363.6(SACS):c.2627_2631del (p.Val876fs) rs1555252844
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs) rs1057516829
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2829dup (p.Leu944fs) rs1869162207
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter) rs1555252786
NM_014363.6(SACS):c.2870del (p.Pro957fs) rs1057516624
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs) rs1057517034
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter) rs1450257625
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.2T>C (p.Met1Thr) rs1417057515
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer) rs2137637877
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) rs1057516551
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.343A>T (p.Lys115Ter)
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) rs1555252634
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) rs1555252623
NM_014363.6(SACS):c.3556dup (p.Met1186fs) rs1555252611
NM_014363.6(SACS):c.3557del (p.Met1186fs)
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_014363.6(SACS):c.3633del (p.Ala1212fs) rs1555252587
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) rs959856535
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs) rs1555252545
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter) rs756963289
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) rs1555252531
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs) rs1555252518
NM_014363.6(SACS):c.4039del (p.Leu1347fs) rs1057516222
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4168del (p.Ile1391fs) rs1555252465
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter) rs1555252458
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233dup (p.Leu1412fs) rs1555252448
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter) rs1057516930
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter) rs768209419
NM_014363.6(SACS):c.4385dup (p.Arg1463fs) rs1555252388
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs) rs1057516294
NM_014363.6(SACS):c.4495dup (p.Met1499fs) rs1555252359
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) rs780197970
NM_014363.6(SACS):c.4684del (p.Ser1562fs) rs1275667662
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) rs1057516820
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_014363.6(SACS):c.4730dup (p.Met1578fs)
NM_014363.6(SACS):c.475T>G (p.Tyr159Asp) rs1305721973
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
NM_014363.6(SACS):c.4760del (p.His1587fs) rs1057516285
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.4934G>C (p.Arg1645Pro)
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
NM_014363.6(SACS):c.497del (p.Pro166fs)
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) rs1459899547
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs) rs1868917066
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs) rs1057517305
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter) rs1555252184
NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)
NM_014363.6(SACS):c.520G>T (p.Glu174Ter) rs2137742889
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) rs1555252148
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter) rs1555252142
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014363.6(SACS):c.529A>T (p.Arg177Ter)
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) rs1555252113
NM_014363.6(SACS):c.542del (p.Lys181fs)
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter) rs1057517172
NM_014363.6(SACS):c.5492del (p.Lys1831fs) rs1868862742
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
NM_014363.6(SACS):c.554_555del (p.Leu185fs)
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) rs1188844823
NM_014363.6(SACS):c.563_564del (p.Gly188fs)
NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter) rs2137616679
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5719del (p.Arg1907fs) rs1555252055
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) rs1057517099
NM_014363.6(SACS):c.579del (p.Phe194fs)
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
NM_014363.6(SACS):c.5919del (p.Glu1974fs) rs1555251990
NM_014363.6(SACS):c.5972dup (p.Arg1992fs) rs2137613912
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs) rs1555251963
NM_014363.6(SACS):c.6001dup (p.Arg2001fs) rs1555251960
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.604+1_604+4del
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
NM_014363.6(SACS):c.605-1G>A rs1555254489
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) rs1555251944
NM_014363.6(SACS):c.6068del (p.Asn2023fs) rs1555251935
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter) rs1408290451
NM_014363.6(SACS):c.6163del (p.Gln2055fs) rs1555251905
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.622_640del (p.Ser208fs)
NM_014363.6(SACS):c.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) rs1555251840
NM_014363.6(SACS):c.6320del (p.Leu2107fs) rs1057516295
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs) rs1555251818
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter) rs201690040
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) rs1057516635
NM_014363.6(SACS):c.654del (p.Gln219fs)
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) rs1057516932
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs) rs2137606577
NM_014363.6(SACS):c.6804del (p.Phe2268fs) rs1057517301
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter) rs1555251615
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7080_7084del (p.His2362fs) rs1294102415
NM_014363.6(SACS):c.708del (p.Asp236fs)
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) rs1057517222
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter) rs1555251514
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter) rs2137602382
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter) rs747676277
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs) rs1555251428
NM_014363.6(SACS):c.742_743del (p.Ala248fs)
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs) rs1057517451
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) rs1057516438
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter) rs140034972
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs) rs2137599071
NM_014363.6(SACS):c.7634del (p.Met2545fs)
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter) rs1057517014
NM_014363.6(SACS):c.7868del (p.Gly2623fs) rs1555251301
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) rs1060499656
NM_014363.6(SACS):c.8009del (p.Leu2670fs) rs1555251254
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter) rs1555251241
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys) rs780332615
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8221del (p.Asn2742fs) rs1555251151
NM_014363.6(SACS):c.8305dup (p.Ile2769fs) rs1279988199
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) rs1240368715
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter) rs1555251015
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) rs1555251007
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8574_8577del (p.His2859fs) rs1555250991
NM_014363.6(SACS):c.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.8612dup (p.Leu2871fs) rs1057517212
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) rs1555250949
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs) rs1057517020
NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs)
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) rs797044608
NM_014363.6(SACS):c.884T>A (p.Leu295Ter)
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter) rs1057516853
NM_014363.6(SACS):c.8873del (p.Lys2958fs) rs765992922
NM_014363.6(SACS):c.8888del (p.Phe2963fs) rs1555250872
NM_014363.6(SACS):c.892_895delinsAC (p.Ser298fs)
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs) rs1555250684
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
NM_014363.6(SACS):c.9377dup (p.Leu3128fs) rs1057516875
NM_014363.6(SACS):c.9390_9391del (p.His3130fs) rs1057517349
NM_014363.6(SACS):c.9447del (p.Val3150fs) rs1555250653
NM_014363.6(SACS):c.9498del (p.Phe3166fs) rs1555250642
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) rs1555250557
NM_014363.6(SACS):c.964G>T (p.Glu322Ter) rs1593145590
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter) rs2137582138
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs) rs2137582027
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) rs1555250508
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) rs1057516464
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
NM_014363.6(SACS):c.9879del (p.Val3294fs) rs2137580025
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931
NM_014363.6(SACS):c.998_999del (p.Val333fs)
NM_014363.6(SACS):c.[7504C>T;8132C>T]
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
NM_014425.5(INVS):c.107-1G>A
NM_014425.5(INVS):c.1234+2T>G
NM_014425.5(INVS):c.1464+1G>A rs375753623
NM_014425.5(INVS):c.1464+1G>T rs375753623
NM_014425.5(INVS):c.2069-1G>T
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.273+1G>A
NM_014425.5(INVS):c.274-2A>G
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2949dup (p.Lys984fs) rs1588153872
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)
NM_014425.5(INVS):c.3104del (p.Gln1035fs) rs2118799345
NM_014425.5(INVS):c.448-2A>G
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_014425.5(INVS):c.778C>T (p.His260Tyr)
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010
NM_014425.5(INVS):c.906+1G>A
NM_014425.5(INVS):c.907-1G>A
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val) rs1169927428
NM_014687.4(RUBCN):c.1847+2T>G
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs) rs749829859
NM_014704.4(CEP104):c.1485+1G>A
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
NM_014704.4(CEP104):c.182del (p.Leu61fs)
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs) rs1189678912
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter) rs1561892336
NM_014780.5(CUL7):c.1563_1569+5del
NM_014780.5(CUL7):c.1838del (p.Pro613fs)
NM_014780.5(CUL7):c.206dup (p.Met69fs) rs1561898352
NM_014780.5(CUL7):c.2398-2A>G
NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs)
NM_014780.5(CUL7):c.2862+1G>A
NM_014780.5(CUL7):c.2862+2T>G rs2150321832
NM_014780.5(CUL7):c.2863-1G>C
NM_014780.5(CUL7):c.3061G>A (p.Glu1021Lys) rs2150320060
NM_014780.5(CUL7):c.3089del (p.Pro1030fs) rs1561881909
NM_014780.5(CUL7):c.3247del (p.Gln1083fs) rs1763636120
NM_014780.5(CUL7):c.3295del (p.Leu1099fs) rs2150317151
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
NM_014780.5(CUL7):c.3645+1G>A
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter) rs1561875767
NM_014780.5(CUL7):c.3722_3749dup (p.Val1252fs) rs766471384
NM_014780.5(CUL7):c.4115del (p.Glu1372fs) rs1561873941
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del) rs1340929933
NM_014797.3(ZBTB24):c.1120+1G>A
NM_014797.3(ZBTB24):c.1121-2A>G
NM_014797.3(ZBTB24):c.1204+1G>A
NM_014797.3(ZBTB24):c.1204+1G>C
NM_014797.3(ZBTB24):c.1289-2A>T
NM_014797.3(ZBTB24):c.437_952+408del
NM_014797.3(ZBTB24):c.747_754dup (p.Arg252fs)
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter) rs765514069
NM_014865.4(NCAPD2):c.2508del (p.Phe837fs) rs772347389
NM_014875.3(KIF14):c.14G>T (p.Ser5Ile) rs1256629719
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
NM_014875.3(KIF14):c.2813+2dup
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=) rs1553254322
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
NM_014956.5(CEP164):c.1233+1G>A
NM_014956.5(CEP164):c.1234-2A>T
NM_014956.5(CEP164):c.1318-13_1319del
NM_014956.5(CEP164):c.1409+2T>C
NM_014956.5(CEP164):c.1934+1G>A rs951827564
NM_014956.5(CEP164):c.194+2T>C
NM_014956.5(CEP164):c.2283+1G>C
NM_014956.5(CEP164):c.2283+2T>C rs1459158279
NM_014956.5(CEP164):c.2284-1G>A rs1391874809
NM_014956.5(CEP164):c.2361+1G>A
NM_014956.5(CEP164):c.2362-1G>T
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_014956.5(CEP164):c.2616+1G>A rs2136378484
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter) rs373403222
NM_014956.5(CEP164):c.2914-1G>C
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.3216+1del
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
NM_014956.5(CEP164):c.3502-2A>G
NM_014956.5(CEP164):c.3609+1G>T
NM_014956.5(CEP164):c.3748+2T>C
NM_014956.5(CEP164):c.3749-2A>G rs1482717760
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4096+1G>C
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014956.5(CEP164):c.552+1G>C rs2041038603
NM_014956.5(CEP164):c.553-1G>A rs2041099865
NM_014956.5(CEP164):c.687+1G>A
NM_014956.5(CEP164):c.688-2A>C rs370034077
NM_014956.5(CEP164):c.765+1G>A rs2041251614
NM_014956.5(CEP164):c.766-2A>G rs2135912935
NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter) rs1596088812
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5276del (p.Val1759fs)
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg) rs863224919
NM_015046.7(SETX):c.6208+2dup
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys) rs759299299
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6842+1G>T rs1038776365
NM_015046.7(SETX):c.6843-3_6843-1del rs1186690391
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter) rs1339011741
NM_015046.7(SETX):c.7100+2T>C
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs) rs1647148516
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs) rs1570504754
NM_015102.5(NPHP4):c.135_135+14del rs1557895715
NM_015102.5(NPHP4):c.135_135+8del rs2102455183
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.1503+1G>T
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) rs747699128
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.2007del (p.Phe670fs) rs1235304713
NM_015102.5(NPHP4):c.2327del (p.Pro776fs) rs1643882944
NM_015102.5(NPHP4):c.2611+1G>C rs374141736
NM_015102.5(NPHP4):c.2611+2_2611+3del rs2100733763
NM_015102.5(NPHP4):c.2686del (p.Arg896fs)
NM_015102.5(NPHP4):c.279+1G>A
NM_015102.5(NPHP4):c.280-1G>C rs1652115764
NM_015102.5(NPHP4):c.2817+1G>A
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) rs1168286961
NM_015102.5(NPHP4):c.3044+1G>T
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs) rs1557616007
NM_015102.5(NPHP4):c.3231+1G>A rs1642345798
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter) rs2100466824
NM_015102.5(NPHP4):c.3473-1G>T rs564232197
NM_015102.5(NPHP4):c.3490_3491delinsA (p.Leu1164fs) rs1641316046
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)
NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro) rs765043646
NM_015102.5(NPHP4):c.452+1G>A
NM_015102.5(NPHP4):c.452+1G>T rs1195128294
NM_015102.5(NPHP4):c.674-2A>G
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715
NM_015102.5(NPHP4):c.992+1G>T
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_015272.5(RPGRIP1L):c.46G>A (p.Asp16Asn)
NM_015272.5(RPGRIP1L):c.529+1688_609del
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015275.3(WASHC4):c.1038+1G>T rs1881282106
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
NM_015294.6(TRIM37):c.1019+2dup
NM_015294.6(TRIM37):c.1020-1G>C
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs) rs386833999
NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter)
NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter)
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) rs1599230814
NM_015294.6(TRIM37):c.123+1G>A
NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter) rs757148418
NM_015294.6(TRIM37):c.1289dup (p.Gln431fs)
NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter)
NM_015294.6(TRIM37):c.1320_1323del (p.Thr441fs)
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) rs386834000
NM_015294.6(TRIM37):c.13_14del (p.Ser5fs)
NM_015294.6(TRIM37):c.165-2A>G
NM_015294.6(TRIM37):c.1668-1G>C
NM_015294.6(TRIM37):c.1808T>A (p.Leu603Ter)
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) rs386834002
NM_015294.6(TRIM37):c.1948+2T>C rs2145613542
NM_015294.6(TRIM37):c.1987C>T (p.Gln663Ter)
NM_015294.6(TRIM37):c.2015dup (p.Leu672fs)
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) rs386834003
NM_015294.6(TRIM37):c.2237_2243del (p.Ala746fs)
NM_015294.6(TRIM37):c.2246dup (p.Tyr749Ter)
NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)
NM_015294.6(TRIM37):c.2380_2383del (p.Ser794fs)
NM_015294.6(TRIM37):c.265G>T (p.Glu89Ter)
NM_015294.6(TRIM37):c.2804del (p.Pro935fs)
NM_015294.6(TRIM37):c.370-1G>A
NM_015294.6(TRIM37):c.40C>T (p.Arg14Ter)
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) rs1568191596
NM_015294.6(TRIM37):c.609_610del (p.Leu204fs)
NM_015294.6(TRIM37):c.637C>T (p.Gln213Ter)
NM_015294.6(TRIM37):c.640G>T (p.Glu214Ter)
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.810-1G>A rs386834006
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) rs386834007
NM_015294.6(TRIM37):c.937del (p.Tyr313fs)
NM_015294.6(TRIM37):c.961C>T (p.Arg321Ter)
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val) rs386834009
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) rs1559155954
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His) rs1559155800
NM_015311.3(OBSL1):c.1277_1282+5del rs760929207
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
NM_015311.3(OBSL1):c.2635del (p.Cys879fs) rs1696644780
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
NM_015311.3(OBSL1):c.4085del (p.Leu1362fs) rs2106028466
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs)
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr)
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter) rs1559484149
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu) rs1575292827
NM_015340.4(LARS2):c.2072G>A (p.Trp691Ter)
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro) rs536853368
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015378.4(VPS13D):c.10270C>T (p.Gln3424Ter) rs2101615505
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter) rs752359125
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val) rs868354311
NM_015378.4(VPS13D):c.12530G>A (p.Gly4177Asp) rs1645392057
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu) rs779850187
NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)
NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter) rs202180923
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) rs1564113368
NM_015404.4(WHRN):c.375del (p.Ala126fs) rs751838091
NM_015474.4(SAMHD1):c.1271-1G>C
NM_015474.4(SAMHD1):c.1271-2A>C
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1410+1G>A
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.1608+1G>A rs373731440
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=) rs1990238054
NM_015474.4(SAMHD1):c.1609-2A>G rs1700306908
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.349-1G>A rs1251155562
NM_015474.4(SAMHD1):c.349-2A>T rs2146137671
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.696+2T>C
NM_015474.4(SAMHD1):c.697-1G>T rs2146119643
NM_015474.4(SAMHD1):c.697-2A>G
NM_015474.4(SAMHD1):c.852+1G>A
NM_015474.4(SAMHD1):c.852+1G>T rs780504624
NM_015474.4(SAMHD1):c.853-1G>C
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
NM_015474.4(SAMHD1):c.953+1G>A rs2146117027
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
NM_015602.4(TOR1AIP1):c.553+1G>A rs1180978840
NM_015602.4(TOR1AIP1):c.553+1_553+10del rs750028739
NM_015602.4(TOR1AIP1):c.554-4_554-1delinsAC rs1647993845
NM_015602.4(TOR1AIP1):c.739+1G>A rs900977276
NM_015602.4(TOR1AIP1):c.797-2A>T rs756798409
NM_015602.4(TOR1AIP1):c.838+2T>A
NM_015602.4(TOR1AIP1):c.906_907+5del rs1571735403
NM_015602.4(TOR1AIP1):c.907+1G>A
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter) rs11581962
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter) rs1668654133
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015665.5(AAAS):c.936_937delAG rs1592513048
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr) rs765757844
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)
NM_015665.6(AAAS):c.762del (p.Ser255fs) rs746057093
NM_015665.6(AAAS):c.781_782del (p.Ala262fs) rs2121089586
NM_015665.6(AAAS):c.810+1G>A
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter) rs774817639
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.128_129del (p.His43fs) rs1162948308
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.373-2A>G
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.479-2A>G
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
NM_015702.3(MMADHC):c.610-1G>A
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) rs2105042238
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
NM_015702.3(MMADHC):c.9+1G>A
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg) rs864309488
NM_015910.7(WDPCP):c.1436-1G>C rs959923850
NM_015910.7(WDPCP):c.161-1G>C
NM_015910.7(WDPCP):c.1813-2A>T rs2104772718
NM_015910.7(WDPCP):c.1915+2del
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_015910.7(WDPCP):c.253+1G>A
NM_015910.7(WDPCP):c.253+2T>C rs1700584499
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter) rs2105500878
NM_015910.7(WDPCP):c.633+2T>C rs765356177
NM_015910.7(WDPCP):c.75+1G>T rs1486299333
NM_015910.7(WDPCP):c.825+1G>A
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_016038.4(SBDS):c.167T>C (p.Val56Ala) rs1584437592
NM_016038.4(SBDS):c.305_308del (p.Thr102fs) rs745661722
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs) rs1411636529
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr) rs2129231218
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) rs757497272
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) rs2118977758
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016098.4(MPC1):c.109C>T (p.Pro37Ser) rs2114943862
NM_016098.4(MPC1):c.208G>A (p.Ala70Thr) rs867958037
NM_016098.4(MPC1):c.214A>G (p.Lys72Glu) rs1554264977
NM_016100.5(NAA20):c.160A>G (p.Met54Val) rs2146464332
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
NM_016219.5(MAN1B1):c.219+1G>A rs2130983856
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.917-2_921del
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs) rs2142428987
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs) rs1057519601
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del) rs2142430892
NM_016239.4(MYO15A):c.10351-15T>G
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del) rs2142436001
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs) rs2142243946
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) rs2142244867
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) rs1445431722
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) rs1567623176
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) rs767378045
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) rs1217492313
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) rs866595552
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs) rs1597747826
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)
NM_016239.4(MYO15A):c.3904del (p.Met1302fs) rs2142282007
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr) rs1057519603
NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter) rs2142283941
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) rs751973078
NM_016239.4(MYO15A):c.4482+2T>C rs2142307505
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) rs779077039
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) rs2142315607
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) rs1209665716
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) rs1567641234
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly) rs2142335605
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) rs764867438
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) rs752816535
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter)
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) rs1240409145
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) rs2142347739
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) rs2142355107
NM_016239.4(MYO15A):c.6510-1G>T rs2142360420
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) rs2142360575
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) rs2046512154
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
NM_016239.4(MYO15A):c.6764+1G>T rs2046521710
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys) rs2045862543
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs) rs1267868260
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs) rs2142370684
NM_016239.4(MYO15A):c.8088+1G>A rs773461233
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys) rs1288328459
NM_016239.4(MYO15A):c.8224+3A>G rs1057519605
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs) rs2142381103
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del) rs2142381306
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg) rs2142382400
NM_016239.4(MYO15A):c.8601+2T>G
NM_016239.4(MYO15A):c.8789-2A>G
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) rs2142388348
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser) rs2142388547
NM_016239.4(MYO15A):c.8910del (p.Val2971fs)
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) rs774312110
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter) rs1567658710
NM_016239.4(MYO15A):c.9084-1G>T rs1567658906
NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter)
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs) rs2046752611
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)
NM_016239.4(MYO15A):c.[5192T>C;823G>C]
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter) rs1575094649
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs) rs1760494153
NM_016356.5(DCDC2):c.426-2A>G rs2113838226
NM_016356.5(DCDC2):c.549dup (p.Val184fs) rs1581640646
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016366.3(CABP2):c.482del (p.Phe161fs) rs368437370
NM_016366.3(CABP2):c.490-8C>A rs776117741
NM_016366.3(CABP2):c.60C>A (p.Leu20=)
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_016373.4(WWOX):c.511G>T (p.Glu171Ter) rs751181600
NM_016373.4(WWOX):c.605+1_605+2delinsAA rs2151934194
NM_016373.4(WWOX):c.605+2T>C
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.791+1G>T rs1164465811
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
NM_016529.6(ATP8A2):c.1474-2del rs2138177530
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016529.6(ATP8A2):c.1868-2A>G rs2039720333
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) rs2035763126
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
NM_016529.6(ATP8A2):c.3469+1G>C rs763272441
NM_016529.6(ATP8A2):c.518del (p.Gly173fs) rs2038343394
NM_016614.3(TDP2):c.635_636+2del rs2127617300
NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter) rs1043716893
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
NM_016938.5(EFEMP2):c.109_111+3del rs1859976995
NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs) rs1555042727
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)
NM_016938.5(EFEMP2):c.368-2A>G
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) rs761656636
NM_016938.5(EFEMP2):c.608-1G>C rs888015688
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_016938.5(EFEMP2):c.848-1_850del
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_017414.4(USP18):c.891+1G>T
NM_017433.5(MYO3A):c.2636-1G>T rs1564602202
NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter) rs2131991331
NM_017433.5(MYO3A):c.3383del (p.Asn1128fs)
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_017613.4(DONSON):c.48del (p.Glu17fs) rs2145910302
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs) rs1971392241
NM_017721.5(CC2D1A):c.2711-2A>G
NM_017721.5(CC2D1A):c.61-2A>G
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1110+1G>T
NM_017739.4(POMGNT1):c.1111-1G>A
NM_017739.4(POMGNT1):c.1111-8_1119del
NM_017739.4(POMGNT1):c.1152+1G>A rs1474858292
NM_017739.4(POMGNT1):c.1153-1G>C rs1657900739
NM_017739.4(POMGNT1):c.1153-4_1153-1del
NM_017739.4(POMGNT1):c.120+1G>A
NM_017739.4(POMGNT1):c.120+2T>A rs1658353874
NM_017739.4(POMGNT1):c.121-67_265del rs1658278935
NM_017739.4(POMGNT1):c.121-67_265delinsTAG
NM_017739.4(POMGNT1):c.1212-1G>A rs1553163254
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)
NM_017739.4(POMGNT1):c.1413+1G>T rs587777821
NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)
NM_017739.4(POMGNT1):c.1539+1del rs1553163077
NM_017739.4(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.4(POMGNT1):c.1605-1G>T rs770219373
NM_017739.4(POMGNT1):c.1605-2A>T rs2148172518
NM_017739.4(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.4(POMGNT1):c.1650-97_1728del rs2148166991
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1785+1G>A rs2148166435
NM_017739.4(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser) rs886044567
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu) rs267606962
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.235+2T>C rs2148218654
NM_017739.4(POMGNT1):c.235+2T>G rs2148218654
NM_017739.4(POMGNT1):c.236-1G>C
NM_017739.4(POMGNT1):c.421-29_452del rs2148212111
NM_017739.4(POMGNT1):c.653-2A>C rs1553163721
NM_017739.4(POMGNT1):c.751+2T>G
NM_017739.4(POMGNT1):c.752-2A>G rs1236287516
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)
NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs) rs762288077
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp) rs1403893283
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs) rs1579377990
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_017755.6(NSUN2):c.839dup (p.Asn280fs) rs1579370234
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1165+2T>C
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1447_1490+22del
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)
NM_017777.4(MKS1):c.171del (p.Phe57fs)
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter) rs903778224
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
NM_017777.4(MKS1):c.766del (p.Glu256fs)
NM_017777.4(MKS1):c.766dup (p.Glu256fs)
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017777.4(MKS1):c.805dup (p.Ser269fs) rs1320893771
NM_017777.4(MKS1):c.81_82del
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
NM_017777.4(MKS1):c.[1115_1117del;1476T>G]
NM_017807.4(OSGEP):c.118T>C (p.Phe40Leu)
NM_017807.4(OSGEP):c.365G>T (p.Gly122Val) rs1166790792
NM_017807.4(OSGEP):c.560G>T (p.Gly187Val) rs1417690595
NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr) rs2139289899
NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys) rs1881216647
NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu) rs144732839
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017825.3(ADPRS):c.166C>T (p.Gln56Ter)
NM_017825.3(ADPRS):c.169_170del (p.Leu58fs) rs1570008399
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) rs1557733311
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) rs368433666
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro) rs1570012058
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu) rs200626873
NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter) rs2124055267
NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn) rs1570013257
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs) rs1575247302
NM_017875.4(SLC25A38):c.793-1G>C
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg) rs1575415900
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
NM_018131.5(CEP55):c.190C>T (p.Arg64Ter) rs146596670
NM_018136.5(ASPM):c.1485dup (p.Thr496fs)
NM_018136.5(ASPM):c.1498del (p.Arg500fs)
NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs)
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe) rs2125107877
NM_018136.5(ASPM):c.2783del (p.Ala928fs)
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.326dup (p.Asn109fs)
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs) rs1240081512
NM_018136.5(ASPM):c.3742-1G>C
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.3879_3880del (p.Lys1294fs)
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4515del (p.Lys1505fs)
NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter) rs776034810
NM_018136.5(ASPM):c.4938dup (p.Gln1647fs)
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) rs2125096196
NM_018136.5(ASPM):c.532del (p.Thr178fs)
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter) rs797045314
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.6115_6118del (p.Lys2038_Arg2039insTer) rs2125095313
NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter)
NM_018136.5(ASPM):c.6811_6812del (p.Arg2271fs)
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter) rs745997770
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.804del (p.Val269fs)
NM_018136.5(ASPM):c.8365del (p.Ser2789fs) rs1353421249
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8794del (p.Ile2932fs) rs1160186494
NM_018136.5(ASPM):c.9109del (p.Gln3037fs) rs2125089566
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu) rs201362977
NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val)
NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)
NM_018161.5(NADSYN1):c.1765-7T>A
NM_018161.5(NADSYN1):c.271del (p.Met91fs) rs1376159616
NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669
NM_018230.3(NUP133):c.2992dup (p.Gln998fs) rs1660478193
NM_018249.6(CDK5RAP2):c.1092+1G>A
NM_018249.6(CDK5RAP2):c.3610C>T (p.Gln1204Ter)
NM_018249.6(CDK5RAP2):c.3723-2A>C
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) rs754282058
NM_018249.6(CDK5RAP2):c.4414+1G>A
NM_018249.6(CDK5RAP2):c.5152del (p.Leu1718fs) rs2033156861
NM_018249.6(CDK5RAP2):c.5579T>A (p.Leu1860Ter)
NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer)
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018294.6(CWF19L1):c.1045-2A>C
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter) rs1554902760
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) rs1589611043
NM_018294.6(CWF19L1):c.187+1G>T rs1330992740
NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)
NM_018294.6(CWF19L1):c.942del (p.Pro315fs) rs749679347
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg) rs2134598287
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
NM_018418.5(SPATA7):c.[388C>T];[657del]
NM_018451.5(CENPJ):c.1426C>T (p.Gln476Ter)
NM_018451.5(CENPJ):c.265_266del (p.Gln89fs) rs2138660627
NM_018451.5(CENPJ):c.2863G>T (p.Glu955Ter) rs1053431940
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup) rs776528706
NM_018451.5(CENPJ):c.505_506del (p.Gln169fs)
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454
NM_018669.6(WDR4):c.454-2A>C rs779449710
NM_018669.6(WDR4):c.509_510delinsTT (p.Arg170Leu)
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter) rs755802156
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs) rs1734381962
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly) rs1725107158
NM_018699.4(PRDM5):c.1858del (p.His620fs) rs1734373037
NM_018699.4(PRDM5):c.475+2T>C
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.98-2A>G
NM_018965.4(TREM2):c.269del (p.Gly90fs) rs386834140
NM_018965.4(TREM2):c.40+4_40+6del rs386834142
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter) rs386834143
NM_018972.4(GDAP1):c.117+1G>A rs1808804404
NM_018972.4(GDAP1):c.118-1G>A
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser) rs773136934
NM_018972.4(GDAP1):c.246_256del (p.Gly83fs)
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) rs1174933176
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) rs1586803187
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser) rs2131512957
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser) rs1809302381
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.485-2del
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) rs1586804849
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.760dup (p.Thr254fs)
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_019892.6(INPP5E):c.1224del (p.Ile409fs) rs2131608743
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter) rs2131605715
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter) rs1426355851
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) rs757511770
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
NM_020247.5(COQ8A):c.1007del (p.Phe336fs) rs1085307053
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) rs767406263
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro) rs1433323183
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
NM_020247.5(COQ8A):c.32del (p.Val11fs)
NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro) rs1659738028
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
NM_020347.4(LZTFL1):c.457-1G>T rs2125680264
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs) rs1943353362
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
NM_020458.4(TTC7A):c.1287+1del rs2104457522
NM_020458.4(TTC7A):c.1510+2T>C
NM_020458.4(TTC7A):c.1641+1G>A
NM_020458.4(TTC7A):c.1919+1G>C rs751311194
NM_020458.4(TTC7A):c.2368_2369insCGCC (p.Ser790fs) rs2103674254
NM_020458.4(TTC7A):c.2384dup (p.Ser796fs) rs1684975294
NM_020458.4(TTC7A):c.517+1G>C rs2104019844
NM_020458.4(TTC7A):c.518-914_588del rs1673619175
NM_020458.4(TTC7A):c.764+1G>T rs756396993
NM_020458.4(TTC7A):c.764+5G>A rs1180479579
NM_020631.6(PLEKHG5):c.1132-1G>T rs2148585199
NM_020631.6(PLEKHG5):c.1393-2A>C
NM_020631.6(PLEKHG5):c.1438A>C (p.Met480Leu) rs1441260635
NM_020631.6(PLEKHG5):c.1542+1G>C
NM_020631.6(PLEKHG5):c.1543-2A>G
NM_020631.6(PLEKHG5):c.1680+1G>T
NM_020631.6(PLEKHG5):c.1801-2A>G
NM_020631.6(PLEKHG5):c.1933+1del
NM_020631.6(PLEKHG5):c.1934-2A>C
NM_020631.6(PLEKHG5):c.2249+1G>A
NM_020631.6(PLEKHG5):c.2250-2A>C
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2503_2510del (p.Pro835fs)
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.2011-2A>T
NM_020632.3(ATP6V0A4):c.2139+1G>T
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) rs934266733
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020661.4(AICDA):c.169G>A (p.Val57Met) rs786205474
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) rs1227905250
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.417G>T (p.Met139Ile) rs1591744217
NM_020661.4(AICDA):c.427+1G>A
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu) rs2136433359
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.8+1G>C
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+2T>G
NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)
NM_020964.3(EPG5):c.1389+2T>G
NM_020964.3(EPG5):c.1497+1G>T rs886043244
NM_020964.3(EPG5):c.2695_2718+32del
NM_020964.3(EPG5):c.2719-1G>C
NM_020964.3(EPG5):c.2839-1G>T
NM_020964.3(EPG5):c.3098+2T>C rs1599578081
NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter) rs2145713137
NM_020964.3(EPG5):c.3693+2_3693+5del rs2050008898
NM_020964.3(EPG5):c.3817-2A>G
NM_020964.3(EPG5):c.4184_4205+5del
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs) rs1599536432
NM_020964.3(EPG5):c.4475-1G>A
NM_020964.3(EPG5):c.4475-2A>C
NM_020964.3(EPG5):c.4665del (p.Glu1555fs) rs1057519318
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
NM_020964.3(EPG5):c.4809+1G>A
NM_020964.3(EPG5):c.4952+1G>A rs2049301523
NM_020964.3(EPG5):c.5110-2A>G
NM_020964.3(EPG5):c.5304+1G>A
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5943-2A>G
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6049+2T>C
NM_020964.3(EPG5):c.6049+5G>A rs2048968935
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6225+2T>C
NM_020964.3(EPG5):c.63+1G>T
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918
NM_020982.4(CLDN9):c.500dup (p.Trp168fs) rs1567404609
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg) rs1296095311
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter) rs754701941
NM_021628.3(ALOXE3):c.1685-2A>G
NM_021628.3(ALOXE3):c.352+1G>T
NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs) rs1443792358
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) rs781016340
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) rs1366090807
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_021942.6(TRAPPC11):c.1113+2T>G rs2111348918
NM_021942.6(TRAPPC11):c.1207+1G>C rs1735767573
NM_021942.6(TRAPPC11):c.1366+1G>A
NM_021942.6(TRAPPC11):c.1568-1G>A rs1180079162
NM_021942.6(TRAPPC11):c.204+1G>C rs1734714805
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs) rs2111068286
NM_021942.6(TRAPPC11):c.2694+1G>T rs1186858080
NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)
NM_021942.6(TRAPPC11):c.2852-1G>T
NM_021942.6(TRAPPC11):c.3379_3380insT (p.Asp1127fs)
NM_021942.6(TRAPPC11):c.374+1G>A
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu) rs868721699
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs) rs759415592
NM_021942.6(TRAPPC11):c.735-2A>G rs1554007706
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter) rs1483190866
NM_021942.6(TRAPPC11):c.965+1G>A
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_021971.4(GMPPB):c.129+1G>T rs2108213393
NM_021971.4(GMPPB):c.130-2A>C
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)
NM_021971.4(GMPPB):c.684dup (p.Met229fs) rs2080427976
NM_021971.4(GMPPB):c.769-2A>G rs2080423660
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu) rs766298888
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)
NM_022089.4(ATP13A2):c.1353_1353+1del
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter) rs2100785804
NM_022089.4(ATP13A2):c.1846-2A>G rs2100783138
NM_022089.4(ATP13A2):c.2006-1G>C
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs) rs2076942520
NM_022089.4(ATP13A2):c.2413-1G>C
NM_022089.4(ATP13A2):c.2763-4_2763-1del
NM_022089.4(ATP13A2):c.3083+2T>C rs771581490
NM_022089.4(ATP13A2):c.3151_3152del (p.Phe1051fs) rs2076751251
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.557+1G>T
NM_022089.4(ATP13A2):c.558-1G>T rs2077392348
NM_022095.4(ZNF335):c.2515_2518dup (p.Thr840fs) rs797046124
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs) rs753460205
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) rs768092083
NM_022098.4(XPNPEP3):c.1055+2T>G rs769010051
NM_022098.4(XPNPEP3):c.1194_1200del (p.Asp398fs)
NM_022098.4(XPNPEP3):c.658C>T (p.Gln220Ter)
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
NM_022124.6(CDH23):c.1986+3A>T rs2132682822
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly) rs2132740263
NM_022124.6(CDH23):c.2956del (p.Leu986fs) rs2132745856
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys) rs2132751512
NM_022124.6(CDH23):c.3220+1G>A rs1487026359
NM_022124.6(CDH23):c.3431-1G>A rs2132804878
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met) rs377358096
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.478del (p.Asp160fs) rs2132358279
NM_022124.6(CDH23):c.5067+1G>A
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg) rs552998089
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.5369-1G>A rs1564791773
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.5924-1G>A rs1841212177
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs) rs1564795354
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs) rs2132953243
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs) rs2132953252
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe) rs765026901
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) rs2132954257
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)
NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala) rs2132965891
NM_022124.6(CDH23):c.7225-1G>A rs1064795722
NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)
NM_022124.6(CDH23):c.7978del (p.Asp2660fs) rs2132983724
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter) rs1564803868
NM_022124.6(CDH23):c.8064+1G>A rs1474524543
NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr) rs2132985083
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser) rs397517356
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) rs1564805114
NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) rs767343063
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9278+2T>A
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu) rs587777446
NM_022168.4(IFIH1):c.454-1G>A
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro) rs923064561
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg) rs1696610650
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met) rs1696608635
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg) rs1181378221
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) rs1553444917
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser) rs1696805635
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022464.5(SIL1):c.353+1G>T
NM_022464.5(SIL1):c.643_645+21del
NM_022464.5(SIL1):c.645+2T>C
NM_022482.5(GZF1):c.1216_1219dup (p.His407fs) rs1227208547
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022834.5(VWA1):c.1169_1217del (p.Leu390fs)
NM_022834.5(VWA1):c.558C>T (p.Ala186=)
NM_023077.3(COA7):c.97del (p.Asp33fs)
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) rs746341112
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter) rs2076017638
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs) rs2076013475
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter) rs2076508722
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys) rs868498080
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs) rs2146989146
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter) rs587780334
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro) rs753811189
NM_024301.5(FKRP):c.1119del (p.Asn374fs) rs1555739041
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val) rs28937903
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1475del (p.Thr492fs) rs1555739333
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.170_186dup (p.Val63fs) rs1555738149
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
NM_024301.5(FKRP):c.206_208del (p.Ser69del) rs2054893955
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter) rs1555738201
NM_024301.5(FKRP):c.230_234dup (p.Val79fs) rs1555738204
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs) rs1555738245
NM_024301.5(FKRP):c.345_349del (p.Arg116fs) rs1555738311
NM_024301.5(FKRP):c.464del (p.Leu155fs) rs1555738456
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro) rs727502842
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr) rs554813030
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter) rs1555738502
NM_024301.5(FKRP):c.558dup (p.Ala187fs) rs1191737604
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs) rs1555738568
NM_024301.5(FKRP):c.656del (p.Gly219fs) rs1555738651
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.686del (p.Arg229fs) rs1555738686
NM_024301.5(FKRP):c.688_722del (p.Gly230fs) rs1555738675
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter) rs752731569
NM_024301.5(FKRP):c.796del (p.Ala266fs) rs1555738764
NM_024301.5(FKRP):c.859_869del (p.Phe287fs) rs1555738823
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter) rs1483781400
NM_024301.5(FKRP):c.963_964del (p.Leu322fs) rs1555738883
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser) rs766147142
NM_024417.5(FDXR):c.1A>G (p.Met1Val) rs1323016653
NM_024417.5(FDXR):c.368del (p.Gln123fs) rs2144662023
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) rs752675360
NM_024417.5(FDXR):c.619A>T (p.Ile207Phe) rs1598518754
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_024570.4(RNASEH2B):c.245-2A>C
NM_024570.4(RNASEH2B):c.245-2A>G
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024570.4(RNASEH2B):c.322-2A>T
NM_024570.4(RNASEH2B):c.322-3C>G
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.436+1G>A rs80087649
NM_024570.4(RNASEH2B):c.510+1del rs1593470515
NM_024570.4(RNASEH2B):c.511-1G>A
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.617-2A>G
NM_024570.4(RNASEH2B):c.64+2_64+6del
NM_024570.4(RNASEH2B):c.65-1G>A
NM_024570.4(RNASEH2B):c.698+1G>C
NM_024570.4(RNASEH2B):c.742-1_742delinsAC
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter) rs1578209906
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile) rs745702205
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) rs1554496609
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
NM_024596.5(MCPH1):c.2002del (p.Asp668fs) rs1809112398
NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer) rs2129559817
NM_024596.5(MCPH1):c.2136+1G>T
NM_024596.5(MCPH1):c.2214+1G>A
NM_024596.5(MCPH1):c.23-1G>C rs1269068071
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter) rs2129580766
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) rs587783741
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)
NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys) rs774692658
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter) rs1856358703
NM_024649.5(BBS1):c.1009del (p.Glu337fs)
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1076G>C (p.Arg359Pro)
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) rs1565286202
NM_024649.5(BBS1):c.1110+1G>C rs2134797993
NM_024649.5(BBS1):c.1110+2T>C
NM_024649.5(BBS1):c.1110+2T>G rs1565286223
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter) rs1021331909
NM_024649.5(BBS1):c.1180+1G>T
NM_024649.5(BBS1):c.1181-1G>C
NM_024649.5(BBS1):c.1181_1191del
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter) rs1421044140
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1253del (p.Pro418fs)
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.130del (p.Ala44fs) rs2134765690
NM_024649.5(BBS1):c.1339+1G>A
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs) rs1555049933
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer) rs1057516901
NM_024649.5(BBS1):c.1474-1G>A rs2134836650
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)
NM_024649.5(BBS1):c.1564del (p.Leu522fs) rs2134837160
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1585dup (p.Ser529fs) rs1555050268
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.159+1G>A
NM_024649.5(BBS1):c.159+2T>A rs1057516507
NM_024649.5(BBS1):c.159+2del rs1348187150
NM_024649.5(BBS1):c.160-1G>A
NM_024649.5(BBS1):c.1608+1G>A rs1856758582
NM_024649.5(BBS1):c.1609-2A>T rs1555050394
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) rs1856790811
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.182del (p.Pro61fs) rs1057517007
NM_024649.5(BBS1):c.1A>C (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter) rs1856007963
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) rs1856011738
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
NM_024649.5(BBS1):c.47+2T>C rs1182864166
NM_024649.5(BBS1):c.47+2T>G
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.480-2A>C rs1856035426
NM_024649.5(BBS1):c.519-2A>G rs1057516502
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
NM_024649.5(BBS1):c.591+1G>A
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter) rs35520756
NM_024649.5(BBS1):c.70_73del (p.Leu24fs)
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter) rs1855932058
NM_024649.5(BBS1):c.723+1G>A
NM_024649.5(BBS1):c.723+2T>C
NM_024649.5(BBS1):c.723+2T>G
NM_024649.5(BBS1):c.734_735del (p.Pro245fs)
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_024649.5(BBS1):c.786del (p.Ala264fs) rs1057516330
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.830+1G>T
NM_024649.5(BBS1):c.830+2T>A
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
NM_024649.5(BBS1):c.855dup (p.Ile286fs)
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.951+2T>G
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter) rs1856354695
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter) rs952741388
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter) rs1555202656
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs) rs1057516998
NM_024685.4(BBS10):c.1024del (p.Ile342fs) rs765561672
NM_024685.4(BBS10):c.1056del (p.Pro353fs) rs1057516623
NM_024685.4(BBS10):c.1064del (p.Gln355fs) rs1555202654
NM_024685.4(BBS10):c.1076del (p.Gln359fs)
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs) rs1555202642
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs) rs1555202636
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs) rs1057517206
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter) rs1310735399
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs) rs1389599028
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_024685.4(BBS10):c.1338del (p.Phe446fs) rs1389599028
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1408del (p.Gln470fs) rs1555202614
NM_024685.4(BBS10):c.1447dup (p.Thr483fs) rs759185809
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) rs786204705
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs) rs1555202607
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.1533del (p.Thr512fs) rs773864735
NM_024685.4(BBS10):c.1538dup (p.Thr514fs) rs1555202599
NM_024685.4(BBS10):c.1542del (p.Asp515fs) rs1057517031
NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)
NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1606del (p.Tyr536fs)
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs) rs1057516669
NM_024685.4(BBS10):c.1676del (p.Tyr559fs)
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter) rs1555202583
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
NM_024685.4(BBS10):c.171_174dup (p.His59fs)
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter) rs2136091512
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter) rs1555202572
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1952del (p.Lys651fs) rs1555202562
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
NM_024685.4(BBS10):c.2024dup (p.Thr676fs)
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2052del (p.Lys684fs) rs1951753726
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter) rs1555202546
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs) rs1951753208
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs) rs1555202538
NM_024685.4(BBS10):c.214_215del (p.Val72fs) rs1057516861
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs) rs1057516861
NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)
NM_024685.4(BBS10):c.235del (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.251_257dup (p.Phe86fs) rs1555202737
NM_024685.4(BBS10):c.253del (p.Thr85fs)
NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)
NM_024685.4(BBS10):c.27_37del (p.Ser10fs) rs1278460471
NM_024685.4(BBS10):c.299_305del (p.Ile100fs) rs1057516701
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.320del (p.Pro107fs) rs1555202731
NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter) rs1951771573
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter) rs1057516240
NM_024685.4(BBS10):c.365dup (p.Asn122fs) rs774095109
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter) rs1057516753
NM_024685.4(BBS10):c.414del (p.Gln139fs) rs1555202717
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.461del (p.Leu154fs)
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)
NM_024685.4(BBS10):c.488_489del (p.Arg163fs)
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.534_535del (p.Phe178fs) rs1555202698
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter) rs574032499
NM_024685.4(BBS10):c.568_571del (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter) rs1057517184
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.641T>A (p.Val214Glu)
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.784_785del (p.Glu262fs) rs1555202681
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter) rs775090151
NM_024685.4(BBS10):c.804_805del (p.Ser269fs) rs1472533012
NM_024685.4(BBS10):c.807dup (p.Thr270fs)
NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter) rs1555202801
NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs) rs1057516836
NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)
NM_024685.4(BBS10):c.899A>C (p.His300Pro)
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter) rs1592492255
NM_024685.4(BBS10):c.959_962del (p.Ser320fs) rs758522600
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter) rs1555202662
NM_024685.4(BBS10):c.968C>T (p.Ala323Val)
NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1516+1G>A
NM_024753.5(TTC21B):c.1516+2T>G rs748598334
NM_024753.5(TTC21B):c.152-1G>A rs371396651
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.1900-1G>T
NM_024753.5(TTC21B):c.1900-2A>G
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter) rs1559056633
NM_024753.5(TTC21B):c.2138+1G>T
NM_024753.5(TTC21B):c.2461+1G>A
NM_024753.5(TTC21B):c.2868+1G>T rs1685487857
NM_024753.5(TTC21B):c.2869-2A>G rs1553508246
NM_024753.5(TTC21B):c.3263+1G>A rs1574070787
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024753.5(TTC21B):c.3684+1G>A
NM_024753.5(TTC21B):c.711-2A>C rs1686972152
NM_024753.5(TTC21B):c.895-1G>A rs773008707
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_024753.5(TTC21B):c.992G>A (p.Gly331Glu)
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
NM_024989.4(PGAP1):c.1351-2A>G
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024989.4(PGAP1):c.2287-1G>A
NM_024989.4(PGAP1):c.2338-2A>C rs1559328283
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_025009.5(CEP135):c.1980_1984del (p.His661fs)
NM_025009.5(CEP135):c.3102del (p.Glu1034fs) rs1560425301
NM_025009.5(CEP135):c.3129_3132del (p.Lys1043fs)
NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)
NM_025009.5(CEP135):c.3215+2T>C
NM_025074.7(FRAS1):c.10540+3A>G
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC rs1721982733
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs) rs1727403682
NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter)
NM_025074.7(FRAS1):c.1931del (p.Gly644fs) rs794727195
NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter) rs936338537
NM_025074.7(FRAS1):c.2869+1G>A rs1731436153
NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe) rs1325190118
NM_025074.7(FRAS1):c.3152-2A>G
NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter) rs2110325478
NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter)
NM_025074.7(FRAS1):c.3975+1G>C
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter)
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.5218-1G>T
NM_025074.7(FRAS1):c.5857-5A>G rs1718842724
NM_025074.7(FRAS1):c.604-1G>C
NM_025074.7(FRAS1):c.6342del (p.Met2115fs) rs2109834757
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025074.7(FRAS1):c.7258-2A>G
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer) rs1263546070
NM_025074.7(FRAS1):c.9575del (p.Pro3192fs)
NM_025114.4(CEP290):c.102+2T>A
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1065+1G>A
NM_025114.4(CEP290):c.1065+1G>C rs2138021203
NM_025114.4(CEP290):c.1169dup (p.Asn390fs)
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
NM_025114.4(CEP290):c.1225del (p.Ile409fs) rs1287628446
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1310del (p.Lys437fs) rs2137917381
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter) rs1437841365
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1516del (p.Arg506fs)
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
NM_025114.4(CEP290):c.1668del (p.Arg557fs) rs2039204524
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1824+1G>A
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
NM_025114.4(CEP290):c.1909+1G>T
NM_025114.4(CEP290):c.1910-1G>A
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2041_2052+23del rs2137779120
NM_025114.4(CEP290):c.2052+1G>A
NM_025114.4(CEP290):c.2052+4A>T
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter) rs1440259390
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2217+1G>T
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2217+2T>G
NM_025114.4(CEP290):c.2218-2A>G
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer) rs2137710225
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
NM_025114.4(CEP290):c.2355dup (p.His786fs)
NM_025114.4(CEP290):c.2367+2T>C rs2137707354
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
NM_025114.4(CEP290):c.2433del (p.Lys811fs) rs2137663442
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.250+1G>A
NM_025114.4(CEP290):c.251-1G>C rs2138259162
NM_025114.4(CEP290):c.251-2A>G rs951979448
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
NM_025114.4(CEP290):c.2586+1G>A
NM_025114.4(CEP290):c.2586_2586+4del
NM_025114.4(CEP290):c.2587-1G>T
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2632dup (p.Ile878fs)
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
NM_025114.4(CEP290):c.2817+1G>T
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs) rs2040497202
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2991+1G>A
NM_025114.4(CEP290):c.2992-1G>A
NM_025114.4(CEP290):c.2992-2A>C
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3103+1G>A
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter) rs2036977924
NM_025114.4(CEP290):c.3573+1G>A
NM_025114.4(CEP290):c.3574-1G>A
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs) rs2137276301
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
NM_025114.4(CEP290):c.3783del (p.Lys1261fs) rs2036833257
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4030-2A>G rs2036722229
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)
NM_025114.4(CEP290):c.4194+1G>C
NM_025114.4(CEP290):c.4194+2T>A rs2137247685
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
NM_025114.4(CEP290):c.441+1G>A
NM_025114.4(CEP290):c.441+1G>C
NM_025114.4(CEP290):c.442-1G>A
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4704+1G>A
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.476del (p.Asn159fs)
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4812+1G>A rs2137167420
NM_025114.4(CEP290):c.4812+1G>T
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs) rs2036306894
NM_025114.4(CEP290):c.5012+1G>A
NM_025114.4(CEP290):c.5012+2T>G
NM_025114.4(CEP290):c.5013-1G>A
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs) rs766259648
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs) rs995093343
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
NM_025114.4(CEP290):c.516+1G>A
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
NM_025114.4(CEP290):c.5227-2A>G
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5242del (p.Leu1748fs)
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter) rs2039993548
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5587-14_5588del
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5709+1G>A rs759850328
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs) rs2136964385
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5822del (p.Lys1941fs)
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5855+1G>A
NM_025114.4(CEP290):c.5855+2T>G
NM_025114.4(CEP290):c.5856-1_5856delinsTT rs2136958216
NM_025114.4(CEP290):c.5856-2A>C
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter) rs2035358840
NM_025114.4(CEP290):c.5972del (p.Lys1991fs) rs1468269366
NM_025114.4(CEP290):c.6011+2T>G
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
NM_025114.4(CEP290):c.626del (p.Ser209fs)
NM_025114.4(CEP290):c.6270+1G>T
NM_025114.4(CEP290):c.6270+2T>C
NM_025114.4(CEP290):c.6271-6_6274del rs2034579427
NM_025114.4(CEP290):c.6276_6280dup (p.Arg2094fs)
NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.635dup (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter) rs1555197766
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6487dup (p.Met2163fs) rs2136748724
NM_025114.4(CEP290):c.6490del (p.Ala2164fs)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6624del (p.Arg2208fs) rs2136725569
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter) rs2034232539
NM_025114.4(CEP290):c.6818+2T>C
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6831del (p.Lys2278fs)
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) rs2033937635
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) rs1177923180
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.6961-3_6965del
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
NM_025114.4(CEP290):c.7130-1G>A
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+1G>A
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233del (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7248del (p.Phe2416fs)
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs) rs1482471100
NM_025114.4(CEP290):c.7311del (p.Asn2438fs)
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.832_852+19del rs2138082472
NM_025114.4(CEP290):c.833del (p.Asn278fs)
NM_025114.4(CEP290):c.853-2A>G
NM_025114.4(CEP290):c.853-2A>T
NM_025114.4(CEP290):c.942+1G>A rs2039897317
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_025114.4(CEP290):c.943-1G>A rs2138025029
NM_025114.4(CEP290):c.943-1G>C rs2138025029
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]
NM_025132.4(WDR19):c.1015C>T (p.Gln339Ter)
NM_025132.4(WDR19):c.1357-2A>T rs1221444922
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) rs1729264976
NM_025132.4(WDR19):c.1479+2T>C rs756329385
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr) rs1730093487
NM_025132.4(WDR19):c.1778-1G>A rs1730515128
NM_025132.4(WDR19):c.1778-2A>C rs1730514795
NM_025132.4(WDR19):c.1983-2A>C
NM_025132.4(WDR19):c.2363+3_2363+6del
NM_025132.4(WDR19):c.2364-2A>G
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2646-2A>G rs890152763
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) rs766616967
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)
NM_025132.4(WDR19):c.3184-2A>G rs1020915921
NM_025132.4(WDR19):c.3304_3358+36del
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3483+1G>A
NM_025132.4(WDR19):c.3483+1G>C rs2109497413
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.716+1G>C
NM_025132.4(WDR19):c.716+2del rs1727827349
NM_025132.4(WDR19):c.717-1G>C rs2109300967
NM_025132.4(WDR19):c.891-1_891delinsAT rs2109322692
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_025216.3(WNT10A):c.-17_13del (p.Met1_His5del) rs746813123
NM_025216.3(WNT10A):c.1066G>A (p.Gly356Ser)
NM_025216.3(WNT10A):c.1079G>C (p.Arg360Pro) rs893127185
NM_025216.3(WNT10A):c.113+1G>A
NM_025216.3(WNT10A):c.274G>A (p.Ala92Thr)
NM_025216.3(WNT10A):c.318C>G (p.Asn106Lys) rs1283426045
NM_025216.3(WNT10A):c.322T>C (p.Ser108Pro) rs1249944381
NM_025216.3(WNT10A):c.3G>A (p.Met1Ile)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.521T>C (p.Leu174Pro)
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter) rs1060499588
NM_025216.3(WNT10A):c.662G>T (p.Gly221Val)
NM_025216.3(WNT10A):c.694del (p.Arg232fs) rs1575233692
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) rs773036759
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His) rs773649192
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
NM_030928.4(CDT1):c.802C>T (p.Gln268Ter) rs776483689
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
NM_031471.6(FERMT3):c.1671-4_1671del
NM_031471.6(FERMT3):c.684-1G>A
NM_031471.6(FERMT3):c.786+1G>T
NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys)
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter) rs1485674839
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer) rs754472294
NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del) rs1569771486
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) rs1192804794
NM_031885.5(BBS2):c.1081-1G>A rs1555522000
NM_031885.5(BBS2):c.1081-1G>T rs1555522000
NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter)
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.118-1G>T
NM_031885.5(BBS2):c.118-2A>C
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1225+2T>C
NM_031885.5(BBS2):c.1225+2dup
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs)
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs)
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs)
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs)
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs)
NM_031885.5(BBS2):c.1355del (p.Pro452fs)
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1397+2T>C
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter) rs1791390525
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)
NM_031885.5(BBS2):c.1461del (p.Ser488fs)
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs)
NM_031885.5(BBS2):c.1527+1G>A rs2144138948
NM_031885.5(BBS2):c.1527+2T>G
NM_031885.5(BBS2):c.1528-1G>C rs2144135065
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
NM_031885.5(BBS2):c.1544del (p.Gly515fs) rs2144134987
NM_031885.5(BBS2):c.157del (p.Ser53fs)
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs)
NM_031885.5(BBS2):c.1700del (p.Ile567fs)
NM_031885.5(BBS2):c.1725del (p.Phe575fs) rs2144132609
NM_031885.5(BBS2):c.1725dup (p.Ala576fs)
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter) rs1964154734
NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs)
NM_031885.5(BBS2):c.1797+1G>A rs1555521489
NM_031885.5(BBS2):c.1797G>A (p.Lys599=) rs1177431007
NM_031885.5(BBS2):c.1798-2A>G rs2144130282
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1911-1G>C
NM_031885.5(BBS2):c.1911-986_1914del
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.5(BBS2):c.2059+1del
NM_031885.5(BBS2):c.2060-1G>T rs1555520142
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) rs199940492
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722
NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)
NM_031885.5(BBS2):c.284_285del (p.Gly95fs)
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter) rs1964676925
NM_031885.5(BBS2):c.302T>A (p.Leu101Ter) rs1964676419
NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs)
NM_031885.5(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.343G>T (p.Glu115Ter) rs1964674209
NM_031885.5(BBS2):c.345+1G>A
NM_031885.5(BBS2):c.346-1G>C
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)
NM_031885.5(BBS2):c.365del (p.Ala122fs) rs1964569500
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
NM_031885.5(BBS2):c.421_423del (p.Asn141del)
NM_031885.5(BBS2):c.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.471+1G>A rs1555523584
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.491_501del (p.Asn164fs)
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.534+2T>C
NM_031885.5(BBS2):c.535-1G>A
NM_031885.5(BBS2):c.535-2A>G rs1555523398
NM_031885.5(BBS2):c.559dup (p.Asp187fs)
NM_031885.5(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.5(BBS2):c.583G>T (p.Glu195Ter) rs1964531867
NM_031885.5(BBS2):c.619_620del (p.Thr207fs)
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.721A>T (p.Lys241Ter) rs1964413369
NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.784dup (p.Thr262fs)
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)
NM_031885.5(BBS2):c.804+1G>T rs2144162056
NM_031885.5(BBS2):c.804+1_804+14del rs1202682571
NM_031885.5(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.5(BBS2):c.940+1G>A
NM_031885.5(BBS2):c.941-1G>A
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.941-2A>G
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter) rs559473497
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs) rs1973248576
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs) rs1973237748
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs) rs774464372
NM_032040.5(CCDC8):c.860del (p.Gln287fs) rs778999067
NM_032040.5(CCDC8):c.976del (p.Asp326fs)
NM_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.10974+1G>A rs1754560628
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs) rs2150063224
NM_032119.4(ADGRV1):c.1239-8C>G rs869312178
NM_032119.4(ADGRV1):c.12403+1G>T rs527236132
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) rs1758488956
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) rs1057519383
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter) rs1561740143
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) rs1554117973
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) rs527236131
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) rs1561790371
NM_032119.4(ADGRV1):c.16196+1G>T rs1326895760
NM_032119.4(ADGRV1):c.16197-1G>T rs1561805689
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) rs1764301206
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs) rs1766797963
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) rs1580567084
NM_032119.4(ADGRV1):c.2898+2T>C
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter) rs2149468550
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_032119.4(ADGRV1):c.4752+2T>G rs774386059
NM_032119.4(ADGRV1):c.5665-231C>T
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs) rs1554081619
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter) rs1053590019
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs) rs2149642220
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) rs1554090072
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs) rs2149715612
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) rs1580845586
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met) rs772757667
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser) rs77834781
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys) rs1064793942
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs) rs768820873
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) rs863223396
NM_032856.5(WDR73):c.41+1G>C
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer) rs2141837067
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) rs866551482
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) rs1596048227
NM_032957.4(RTEL1):c.[1346T>C];[3028C>T]
NM_033028.5(BBS4):c.101del (p.Lys34fs)
NM_033028.5(BBS4):c.1036+1G>A rs2151048301
NM_033028.5(BBS4):c.1037-1G>A
NM_033028.5(BBS4):c.1037-2A>G
NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
NM_033028.5(BBS4):c.1106+1G>A
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1106+2T>C
NM_033028.5(BBS4):c.1106del (p.Lys369fs)
NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)
NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)
NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)
NM_033028.5(BBS4):c.1234_1248+5del
NM_033028.5(BBS4):c.1248+1G>A
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033028.5(BBS4):c.1248+2dup
NM_033028.5(BBS4):c.1249-3_1259del
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
NM_033028.5(BBS4):c.1398del (p.Ala467fs)
NM_033028.5(BBS4):c.1450+2T>C
NM_033028.5(BBS4):c.150del (p.Cys51fs)
NM_033028.5(BBS4):c.210_213del (p.Ile70fs) rs775928735
NM_033028.5(BBS4):c.220+1G>A
NM_033028.5(BBS4):c.24+1G>A rs759520211
NM_033028.5(BBS4):c.24+1G>T rs759520211
NM_033028.5(BBS4):c.24+2T>G
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs) rs2065449579
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)
NM_033028.5(BBS4):c.332+1G>T
NM_033028.5(BBS4):c.333-1G>C rs2065474809
NM_033028.5(BBS4):c.333-2A>C
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_033028.5(BBS4):c.511dup (p.Tyr171fs)
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)
NM_033028.5(BBS4):c.608_609del (p.Glu203fs)
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.642+1G>A
NM_033028.5(BBS4):c.642+1G>T
NM_033028.5(BBS4):c.642+2T>G
NM_033028.5(BBS4):c.711+1G>A rs2151044091
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe) rs200113494
NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) rs749017489
NM_033028.5(BBS4):c.864+1G>A
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033028.5(BBS4):c.865-3_865-2del
NM_033028.5(BBS4):c.87del (p.Pro30fs)
NM_033028.5(BBS4):c.929del (p.Leu310fs) rs889012564
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs) rs35296328
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly) rs540498342
NM_033402.5(LRRCC1):c.105-1G>C rs886039794
NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln) rs1568972559
NM_033550.4(TP53RK):c.309dup (p.Val104fs) rs2122963096
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) rs757478752
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del) rs2107255387
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) rs2108328020
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg) rs2074912574
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.349+1G>A rs1559869525
NM_052989.3(IFT122):c.416+2T>G rs2108101855
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp) rs2077955754
NM_079420.3(MYL1):c.488T>G (p.Met163Arg) rs1259220084
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs) rs1583335192
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.3852+1G>T
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter) rs1404134749
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter) rs1287548904
NM_130837.3(OPA1):c.2885_2983+8del
NM_130837.3(OPA1):c.2937_2938del (p.Lys979fs)
NM_133261.3(GIPC3):c.3_594del (p.Met1fs)
NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln) rs1466835034
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_133378.4(TTN):c.[98049dupA];[99250C>T]
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138387.4(G6PC3):c.325+2T>G
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) rs2144147052
NM_138387.4(G6PC3):c.416+1G>A
NM_138387.4(G6PC3):c.417-1G>A
NM_138387.4(G6PC3):c.536-2A>G
NM_138425.3(C12orf57):c.-277A>G rs781842057
NM_138425.3(C12orf57):c.-279C>G rs180837208
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter) rs773851192
NM_138691.3(TMC1):c.1224+2T>C rs1564555240
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His) rs1828278868
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys) rs761261855
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs) rs1828785763
NM_138691.3(TMC1):c.1763+1G>T rs2118284330
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg) rs1290684098
NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly) rs1828864557
NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys) rs1828965654
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.3(TMC1):c.64+2T>A
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter) rs1564554255
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp) rs1384539153
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs)
NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs)
NM_138694.4(PKHD1):c.10157-1G>T rs2150418842
NM_138694.4(PKHD1):c.10157-2A>G rs2150418852
NM_138694.4(PKHD1):c.10168G>T (p.Glu3390Ter)
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg)
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) rs1772559884
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs) rs760260903
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer) rs1554183763
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) rs1057517249
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter)
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs)
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter)
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) rs1554183588
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs) rs1057516835
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs) rs1057517326
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs)
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs) rs1554183480
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs) rs1554183446
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
NM_138694.4(PKHD1):c.10688T>A (p.Leu3563Ter)
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) rs1057516345
NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs)
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter) rs2150413999
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer) rs1554183320
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs) rs1057516652
NM_138694.4(PKHD1):c.10845_10846dup (p.Ala3616fs)
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer) rs1554183204
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs) rs1772389754
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) rs1554219429
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) rs1057517047
NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter)
NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter)
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11092C>T (p.Gln3698Ter)
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) rs1554183012
NM_138694.4(PKHD1):c.11174+2T>C rs2150410774
NM_138694.4(PKHD1):c.11174_11175-4798del
NM_138694.4(PKHD1):c.11175-2A>G
NM_138694.4(PKHD1):c.1118+1G>T rs1808826795
NM_138694.4(PKHD1):c.1119-2A>G
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs) rs1554176517
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs) rs1554176343
NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter) rs1020902474
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu)
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11311-2A>G rs1554174903
NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs)
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs) rs1554174796
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter)
NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter)
NM_138694.4(PKHD1):c.11395A>T (p.Lys3799Ter)
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) rs1554169567
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
NM_138694.4(PKHD1):c.11507-1G>A rs2150304734
NM_138694.4(PKHD1):c.11507-2A>T
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)
NM_138694.4(PKHD1):c.11666-2A>G
NM_138694.4(PKHD1):c.11666-593_11752del rs2150277532
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11770_11771dup (p.Val3925fs)
NM_138694.4(PKHD1):c.11770del (p.Thr3924fs)
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+1G>T rs1488844530
NM_138694.4(PKHD1):c.11785+1_11785+35del rs761547193
NM_138694.4(PKHD1):c.1189C>T (p.Gln397Ter)
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) rs1057517178
NM_138694.4(PKHD1):c.1216del (p.Glu406fs)
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
NM_138694.4(PKHD1):c.131-2A>T
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) rs1582013246
NM_138694.4(PKHD1):c.1396G>A (p.Gly466Arg)
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1409del (p.Gly470fs) rs1057516975
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.1474C>T (p.Gln492Ter)
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.1497del (p.Arg499fs)
NM_138694.4(PKHD1):c.1513-1G>A
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter) rs1582002018
NM_138694.4(PKHD1):c.156dup (p.Asn53fs) rs773991918
NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs)
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.1602+2T>C
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr)
NM_138694.4(PKHD1):c.1617del (p.Ile539fs)
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter)
NM_138694.4(PKHD1):c.1626del (p.Leu542fs)
NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs)
NM_138694.4(PKHD1):c.1693+1G>T rs2128209217
NM_138694.4(PKHD1):c.1693+2T>C
NM_138694.4(PKHD1):c.1694-1G>C rs398124477
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter) rs1581992845
NM_138694.4(PKHD1):c.1700_1704dup (p.Ser569fs)
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
NM_138694.4(PKHD1):c.179_182delinsGACGT (p.Ile60fs)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)
NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs)
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter)
NM_138694.4(PKHD1):c.1910del (p.Asn637fs)
NM_138694.4(PKHD1):c.1954_1957dup (p.Pro653fs)
NM_138694.4(PKHD1):c.1964+2T>C
NM_138694.4(PKHD1):c.1965-1G>T
NM_138694.4(PKHD1):c.1965-2A>T rs2128203974
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.2017del (p.Asp673fs) rs1581974348
NM_138694.4(PKHD1):c.2140+1G>C rs1554213853
NM_138694.4(PKHD1):c.2140+1G>T rs1554213853
NM_138694.4(PKHD1):c.2141-1G>A rs2128197058
NM_138694.4(PKHD1):c.2141-2A>C rs1554212403
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser) rs1806602099
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) rs1806601043
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs) rs2128196889
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2188delinsTA (p.Glu730Ter) rs2128196788
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs) rs1554211308
NM_138694.4(PKHD1):c.2408-2A>G rs1554210085
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2474_2475insTGGC (p.Ser826fs)
NM_138694.4(PKHD1):c.2503_2504del (p.Thr835fs)
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro) rs1203260419
NM_138694.4(PKHD1):c.2532C>G (p.Tyr844Ter)
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg)
NM_138694.4(PKHD1):c.257del (p.Leu86fs)
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) rs1057516709
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2592+1G>T
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)
NM_138694.4(PKHD1):c.2648_2649del (p.Val882_Tyr883insTer)
NM_138694.4(PKHD1):c.2664del (p.Gly890fs) rs2128186439
NM_138694.4(PKHD1):c.2681del (p.Gly894fs)
NM_138694.4(PKHD1):c.2715+1G>A
NM_138694.4(PKHD1):c.2715+1G>C rs1554209188
NM_138694.4(PKHD1):c.2715+1G>T
NM_138694.4(PKHD1):c.2715+2_2715+14del rs1057516562
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro) rs1805300035
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2799_2809del (p.His934fs)
NM_138694.4(PKHD1):c.281+1G>A rs1582154630
NM_138694.4(PKHD1):c.281+1G>T
NM_138694.4(PKHD1):c.281+2T>G
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.282-1G>T
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2850del (p.Thr951fs)
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter) rs773136605
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu)
NM_138694.4(PKHD1):c.2887C>T (p.Gln963Ter)
NM_138694.4(PKHD1):c.2916_2917insTGCCGTCTTCTGC (p.Val973fs)
NM_138694.4(PKHD1):c.2941_2943delinsCT (p.Val981fs)
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter)
NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter)
NM_138694.4(PKHD1):c.3062del (p.Leu1021fs)
NM_138694.4(PKHD1):c.3079del (p.Ser1027fs)
NM_138694.4(PKHD1):c.3082A>T (p.Arg1028Ter)
NM_138694.4(PKHD1):c.3097+2T>C rs1554207834
NM_138694.4(PKHD1):c.3098-1G>A rs2128169165
NM_138694.4(PKHD1):c.3098-2A>T
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs) rs1803834984
NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs)
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) rs1554204054
NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter)
NM_138694.4(PKHD1):c.3228+1G>C rs868673401
NM_138694.4(PKHD1):c.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3229-1G>A
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro) rs1803322601
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer)
NM_138694.4(PKHD1):c.3364+1G>T
NM_138694.4(PKHD1):c.3365-3C>T rs2128153381
NM_138694.4(PKHD1):c.3369_3370del (p.Glu1124fs)
NM_138694.4(PKHD1):c.3404_3413del (p.Asn1135fs)
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3421del (p.Val1141fs)
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs) rs1554200778
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3497del (p.Pro1166fs)
NM_138694.4(PKHD1):c.349del (p.Ser117fs)
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu) rs1581827172
NM_138694.4(PKHD1):c.3548_3557del (p.Ile1183fs)
NM_138694.4(PKHD1):c.3560+1G>T
NM_138694.4(PKHD1):c.3561-1G>A rs1802457333
NM_138694.4(PKHD1):c.3561-2A>G rs1057516982
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs)
NM_138694.4(PKHD1):c.3743G>A (p.Trp1248Ter)
NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs)
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs) rs1802132538
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs) rs1554199349
NM_138694.4(PKHD1):c.3830_3843dup (p.Pro1282fs)
NM_138694.4(PKHD1):c.3864dup (p.Lys1289fs)
NM_138694.4(PKHD1):c.3886_3887del (p.Glu1296fs)
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3932_3933del (p.Thr1311fs)
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer) rs1554199226
NM_138694.4(PKHD1):c.3946_3947del (p.Ser1316fs)
NM_138694.4(PKHD1):c.4002_4003del (p.Asn1335fs)
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs)
NM_138694.4(PKHD1):c.4017_4018del (p.Glu1339fs)
NM_138694.4(PKHD1):c.407dup (p.Pro137fs)
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs) rs1057516594
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter) rs1226122841
NM_138694.4(PKHD1):c.4155del (p.Phe1385fs)
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr) rs2128144732
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del) rs1802029655
NM_138694.4(PKHD1):c.421del (p.Gln141fs)
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro)
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4274T>G (p.Leu1425Arg)
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe) rs753307105
NM_138694.4(PKHD1):c.4293T>A (p.Cys1431Ter)
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp)
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter) rs1811318008
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs) rs1802018167
NM_138694.4(PKHD1):c.4347_4348del (p.Asp1450fs)
NM_138694.4(PKHD1):c.4361del (p.Gly1454fs)
NM_138694.4(PKHD1):c.4414_4418del (p.Cys1472fs)
NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter)
NM_138694.4(PKHD1):c.448+2T>C rs1057517270
NM_138694.4(PKHD1):c.449-1G>A
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs)
NM_138694.4(PKHD1):c.453del (p.Lys151fs)
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs) rs1057516382
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr) rs1810936262
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs)
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs)
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs)
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs)
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter)
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer) rs1554224707
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs)
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer) rs1057516626
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs) rs2128142414
NM_138694.4(PKHD1):c.4838G>T (p.Cys1613Phe)
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) rs1057516885
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) rs2128142132
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.5060T>G (p.Ile1687Arg)
NM_138694.4(PKHD1):c.5065del (p.Met1689fs) rs1554198072
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs)
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs)
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs)
NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs)
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs)
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter)
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs)
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His) rs2128141336
NM_138694.4(PKHD1):c.5236+1G>A rs398124487
NM_138694.4(PKHD1):c.5236+1G>C
NM_138694.4(PKHD1):c.5236+2T>C
NM_138694.4(PKHD1):c.5237-2A>C rs1554197152
NM_138694.4(PKHD1):c.5249del (p.Gly1750fs)
NM_138694.4(PKHD1):c.527+1del rs1057516697
NM_138694.4(PKHD1):c.53-2A>G rs1554228601
NM_138694.4(PKHD1):c.53-3C>A
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs)
NM_138694.4(PKHD1):c.5380+1G>C
NM_138694.4(PKHD1):c.5380+2T>G rs1801591463
NM_138694.4(PKHD1):c.5381-7_5385del rs2128130561
NM_138694.4(PKHD1):c.538_542delinsC (p.Leu180fs)
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)
NM_138694.4(PKHD1):c.5441dup (p.His1814fs) rs908880474
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter) rs1057516692
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer) rs1554194504
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) rs1562140771
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5600+1G>A rs1581763359
NM_138694.4(PKHD1):c.5609T>A (p.Leu1870Ter)
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter) rs1810710453
NM_138694.4(PKHD1):c.5611G>T (p.Glu1871Ter)
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
NM_138694.4(PKHD1):c.5663_5666del (p.Thr1888fs)
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs) rs1554191298
NM_138694.4(PKHD1):c.5699_5706del (p.Pro1900fs)
NM_138694.4(PKHD1):c.5738del (p.Gly1913fs)
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+2T>G
NM_138694.4(PKHD1):c.5752-1G>C
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs) rs1791763088
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
NM_138694.4(PKHD1):c.5792del (p.Thr1931fs)
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
NM_138694.4(PKHD1):c.5808_5809del (p.Glu1937fs)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) rs1554162725
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs)
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) rs1554144359
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.6007_6008insGTGTGATCTG (p.Lys2003delinsSerValIleTer)
NM_138694.4(PKHD1):c.602+1G>A rs1554223950
NM_138694.4(PKHD1):c.602+2T>A rs2128231798
NM_138694.4(PKHD1):c.602+5G>A
NM_138694.4(PKHD1):c.603-1G>A rs1554223403
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter)
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
NM_138694.4(PKHD1):c.6121+1G>T rs2127767937
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA rs1057517378
NM_138694.4(PKHD1):c.6125C>A (p.Ser2042Ter)
NM_138694.4(PKHD1):c.6125del (p.Ser2042fs)
NM_138694.4(PKHD1):c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050fs)
NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)
NM_138694.4(PKHD1):c.6273_6285delinsGAG (p.Glu2092fs)
NM_138694.4(PKHD1):c.6284_6285insAGATG (p.Val2096fs)
NM_138694.4(PKHD1):c.6285del (p.Val2096fs)
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs) rs1554134080
NM_138694.4(PKHD1):c.6312_6313del (p.Tyr2105fs)
NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs)
NM_138694.4(PKHD1):c.6332+1G>A
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs) rs1783005266
NM_138694.4(PKHD1):c.6395_6396del (p.Val2132fs)
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs) rs2127663896
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) rs557437764
NM_138694.4(PKHD1):c.6490+1G>A rs1554133736
NM_138694.4(PKHD1):c.6491-1G>A rs1554132790
NM_138694.4(PKHD1):c.6491-2A>G rs2127653183
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter) rs1057516706
NM_138694.4(PKHD1):c.6603del (p.Lys2202fs)
NM_138694.4(PKHD1):c.6617_6620delinsATAAAGACAGT (p.Phe2206fs)
NM_138694.4(PKHD1):c.6619_6620del (p.Gln2207fs)
NM_138694.4(PKHD1):c.661del (p.Tyr221fs)
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6667_6668delinsTGA (p.Val2223Ter)
NM_138694.4(PKHD1):c.6683-2A>C rs2127637373
NM_138694.4(PKHD1):c.6683-2A>G
NM_138694.4(PKHD1):c.6702C>A (p.Cys2234Ter)
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly)
NM_138694.4(PKHD1):c.6776del (p.Phe2259fs)
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr)
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6865+1G>A
NM_138694.4(PKHD1):c.6865+2T>C
NM_138694.4(PKHD1):c.6866-16_6866del rs1554299291
NM_138694.4(PKHD1):c.6866-1G>C rs1781631365
NM_138694.4(PKHD1):c.6866-1G>T
NM_138694.4(PKHD1):c.6866-2A>T
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6870G>A (p.Trp2290Ter)
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile) rs1781623229
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter) rs1057516441
NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro) rs2127622153
NM_138694.4(PKHD1):c.6996+2del rs2127621751
NM_138694.4(PKHD1):c.6996+4A>T
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter)
NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs)
NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs)
NM_138694.4(PKHD1):c.707+2T>C rs1554222939
NM_138694.4(PKHD1):c.708-1G>A rs1554222508
NM_138694.4(PKHD1):c.708-2A>C rs753492974
NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs)
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
NM_138694.4(PKHD1):c.7108del (p.Arg2370fs)
NM_138694.4(PKHD1):c.7109+2T>A
NM_138694.4(PKHD1):c.7109+3A>C rs1583202788
NM_138694.4(PKHD1):c.7128C>G (p.Tyr2376Ter)
NM_138694.4(PKHD1):c.7159_7160del (p.Thr2387fs)
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs) rs2127551949
NM_138694.4(PKHD1):c.7215+1G>T
NM_138694.4(PKHD1):c.7218delinsGTGTATAAGAGACAG (p.Ile2406fs)
NM_138694.4(PKHD1):c.7251_7252delinsT (p.Val2419fs)
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs) rs1057516596
NM_138694.4(PKHD1):c.7300del (p.Ala2434fs)
NM_138694.4(PKHD1):c.7310C>A (p.Ser2437Ter)
NM_138694.4(PKHD1):c.7311delinsTT (p.Val2438fs)
NM_138694.4(PKHD1):c.7325T>A (p.Leu2442Ter)
NM_138694.4(PKHD1):c.7328T>A (p.Leu2443Ter)
NM_138694.4(PKHD1):c.7348A>T (p.Lys2450Ter)
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7350+2T>A
NM_138694.4(PKHD1):c.7378A>T (p.Lys2460Ter)
NM_138694.4(PKHD1):c.7393_7404delinsGACA (p.Trp2465fs)
NM_138694.4(PKHD1):c.7394G>A (p.Trp2465Ter) rs2151778258
NM_138694.4(PKHD1):c.7466C>G (p.Ser2489Ter)
NM_138694.4(PKHD1):c.7486+1G>T rs1554282419
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser)
NM_138694.4(PKHD1):c.7487-1G>C
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7512_7522del (p.Gln2504fs)
NM_138694.4(PKHD1):c.7531_7532del (p.Ser2511fs)
NM_138694.4(PKHD1):c.7591_7592del (p.Leu2531fs)
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro) rs1775360219
NM_138694.4(PKHD1):c.7608_7609insGACCCATCCA (p.Ser2537fs)
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) rs1775351921
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys) rs886042259
NM_138694.4(PKHD1):c.7661C>A (p.Ser2554Ter) rs1775347142
NM_138694.4(PKHD1):c.7680_7681del (p.His2561fs)
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter) rs1057516751
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg) rs768265052
NM_138694.4(PKHD1):c.7721dup (p.Met2574fs)
NM_138694.4(PKHD1):c.7733+1G>C
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter)
NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter)
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.779-1G>A
NM_138694.4(PKHD1):c.779-2A>G rs2128224166
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs) rs1057516690
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer) rs1057516607
NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs)
NM_138694.4(PKHD1):c.790G>A (p.Val264Met) rs1809647915
NM_138694.4(PKHD1):c.7912-1G>A rs1160209891
NM_138694.4(PKHD1):c.7912-2A>G rs1554271235
NM_138694.4(PKHD1):c.7929del (p.Asp2643fs)
NM_138694.4(PKHD1):c.792_793del (p.Phe265fs)
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn)
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro) rs778592523
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs) rs1771488619
NM_138694.4(PKHD1):c.8028del (p.Pro2677fs)
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter) rs1057516490
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly)
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser)
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu) rs768660365
NM_138694.4(PKHD1):c.8089_8090del (p.Arg2697fs)
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_138694.4(PKHD1):c.8102_8107+8del rs2151627285
NM_138694.4(PKHD1):c.8107+1G>C rs1554270880
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs) rs1057516775
NM_138694.4(PKHD1):c.8162dup (p.Thr2722fs)
NM_138694.4(PKHD1):c.8173+2T>G rs2151549200
NM_138694.4(PKHD1):c.8174-2A>G
NM_138694.4(PKHD1):c.8174-2A>T rs1582925274
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter) rs2151512212
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8241del (p.Gly2748fs)
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8303-2A>G rs1554243821
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala) rs1793719203
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu) rs2151261317
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu) rs1809634616
NM_138694.4(PKHD1):c.8440+1G>A rs1793689014
NM_138694.4(PKHD1):c.8441-1G>A
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile)
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro) rs1790936941
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) rs2128223990
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs) rs746625317
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8555-1G>A
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8578del (p.Tyr2860fs)
NM_138694.4(PKHD1):c.8589T>A (p.Tyr2863Ter)
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8604del (p.Ser2867_Trp2868insTer)
NM_138694.4(PKHD1):c.8641A>T (p.Arg2881Ter)
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs) rs1582479341
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr)
NM_138694.4(PKHD1):c.8797+1G>A rs2151020151
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs) rs1057517244
NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs)
NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer)
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu) rs1582469538
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8926A>T (p.Lys2976Ter)
NM_138694.4(PKHD1):c.8932del (p.Ser2978fs)
NM_138694.4(PKHD1):c.8948C>A (p.Ser2983Ter)
NM_138694.4(PKHD1):c.8950+1G>A
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs) rs1057517387
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His)
NM_138694.4(PKHD1):c.8987dup (p.Gly2997fs)
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9003C>A (p.Tyr3001Ter)
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9005C>A (p.Ser3002Ter)
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer) rs1554218926
NM_138694.4(PKHD1):c.9166C>T (p.Gln3056Ter)
NM_138694.4(PKHD1):c.9169del (p.Ala3057fs)
NM_138694.4(PKHD1):c.9171del (p.Tyr3058fs)
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr)
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter) rs1250269841
NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del) rs2150985143
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile)
NM_138694.4(PKHD1):c.9345del (p.Glu3115fs)
NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter)
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn) rs2150983772
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs) rs1057516413
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr)
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs) rs1554218519
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)
NM_138694.4(PKHD1):c.9540_9543delinsTTT (p.Leu3180fs)
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)
NM_138694.4(PKHD1):c.9600del (p.Arg3201fs)
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs)
NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs)
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser)
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs) rs751754608
NM_138694.4(PKHD1):c.977-2A>G
NM_138694.4(PKHD1):c.9829+1G>A rs1273202231
NM_138694.4(PKHD1):c.9829+1dup
NM_138694.4(PKHD1):c.9830-18_9842del
NM_138694.4(PKHD1):c.9830-1G>A
NM_138694.4(PKHD1):c.9830-2A>C rs890681861
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9834del (p.Thr3279fs)
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter) rs1057517357
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs) rs1785246943
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs)
NM_138694.4(PKHD1):c.9974del (p.Phe3325fs)
NM_138694.4(PKHD1):c.9998+1G>A
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563
NM_138694.4(PKHD1):c.9999-1G>A rs2150963039
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter) rs375189195
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr) rs1952754017
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_144508.5(KNL1):c.197_197+4del
NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer) rs2141721054
NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs) rs1555420891
NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr) rs758157294
NM_144508.5(KNL1):c.694del (p.Asp232fs) rs797045430
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.1387del (p.His463fs) rs2141044380
NM_144596.4(TTC8):c.265+1_265+2del rs1595939517
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_144596.4(TTC8):c.579+5G>A rs2140977987
NM_144596.4(TTC8):c.69del (p.Cys23fs) rs2094690718
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr) rs1595959305
NM_144596.4(TTC8):c.710+1G>A rs2140999630
NM_144596.4(TTC8):c.799-1G>T
NM_144596.4(TTC8):c.799-2A>G rs771218088
NM_144596.4(TTC8):c.910-1G>A rs2141033061
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs) rs2141700836
NM_144672.4(OTOA):c.1633_1634del (p.Leu545fs)
NM_144672.4(OTOA):c.1881-2A>G rs2141716542
NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter) rs1898923522
NM_144672.4(OTOA):c.2295del (p.Thr766fs) rs774366025
NM_144672.4(OTOA):c.2301+1G>T rs1567396832
NM_144672.4(OTOA):c.2352del (p.Thr785fs)
NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp)
NM_144672.4(OTOA):c.562_569dup (p.Phe191fs)
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_144672.4(OTOA):c.875A>G (p.Lys292Arg)
NM_144772.3(NAXE):c.611T>C (p.Leu204Pro) rs2102491191
NM_144772.3(NAXE):c.668G>A (p.Trp223Ter) rs1205686109
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter) rs546662496
NM_145178.4(ATOH7):c.154C>G (p.Arg52Gly)
NM_145200.5(CABP4):c.626G>T (p.Arg209Leu) rs552701854
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) rs879255629
NM_147127.5(EVC2):c.1005+1G>A
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.1146-2A>T
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs) rs1553840713
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)
NM_147127.5(EVC2):c.1313del (p.Leu438fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1463del (p.Gly488fs)
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+2T>C
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1511del (p.Gly504fs)
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1997dup (p.Leu667fs)
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs)
NM_147127.5(EVC2):c.2053del (p.Glu685fs)
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.257_260del (p.Val86fs)
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3411del (p.Thr1138fs)
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter) rs2151736638
NM_147127.5(EVC2):c.437_438del (p.Ile146fs)
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.466del (p.Arg156fs)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)
NM_147127.5(EVC2):c.711_717del (p.Asp238fs)
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.775_781del (p.Leu259fs)
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147127.5(EVC2):c.961del (p.Val321fs)
NM_147196.3(TMIE):c.122_125dup (p.Pro43fs) rs876661301
NM_147196.3(TMIE):c.92A>G (p.Glu31Gly) rs1057517839
NM_148919.4(PSMB8):c.69_147+42del
NM_152384.3(BBS5):c.142+1G>T rs2105291750
NM_152384.3(BBS5):c.142+1del
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
NM_152384.3(BBS5):c.259-1G>A
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.59+5G>T
NM_152384.3(BBS5):c.60-2A>C
NM_152384.3(BBS5):c.681+1G>T
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
NM_152384.3(BBS5):c.898del (p.Val300fs) rs2105303591
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152443.3(RDH12):c.188-1G>A rs2140142183
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.667G>T (p.Val223Phe) rs370015375
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter) rs2038317129
NM_152522.7(ARL6IP6):c.373C>T (p.Leu125Phe)
NM_152617.4(RNF168):c.559-1_560del
NM_152617.4(RNF168):c.659_662del (p.Arg220fs) rs755314562
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs) rs1800908907
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs) rs2150736865
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) rs1553941391
NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter) rs747159816
NM_152618.3(BBS12):c.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1289dup (p.Arg431fs)
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)
NM_152618.3(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)
NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)
NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355
NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1795del (p.Leu599fs) rs1553941540
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) rs1444062882
NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter) rs2150737953
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter) rs746020725
NM_152618.3(BBS12):c.250G>A (p.Gly84Arg) rs1578489760
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs) rs1173504533
NM_152618.3(BBS12):c.2T>C (p.Met1Thr) rs1553941150
NM_152618.3(BBS12):c.416_419del (p.Asp139fs) rs1553941255
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)
NM_152618.3(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_152618.3(BBS12):c.568dup (p.Ser190fs) rs1553941279
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.694dup (p.Ile232fs) rs2150736431
NM_152618.3(BBS12):c.719_720del (p.Thr240fs)
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.780_781del (p.His260fs) rs865920726
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter) rs974173261
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)
NM_152618.3(BBS12):c.911_912del (p.Cys304fs) rs2150736648
NM_152618.3(BBS12):c.948_952del (p.Phe316fs)
NM_153002.3(GPR156):c.1863dup (p.His622fs)
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1525-2A>G
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.1628+2T>A rs1277862520
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs) rs2108007892
NM_153240.5(NPHP3):c.1888-7_1893del rs1553773296
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.2172-2A>C
NM_153240.5(NPHP3):c.2172-2A>G rs547310372
NM_153240.5(NPHP3):c.3201+2T>G
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter) rs1576660495
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs) rs1939111919
NM_153240.5(NPHP3):c.3696_3696+3del
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val) rs775281384
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.52del (p.Asp18fs) rs2108008280
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
NM_153676.4(USH1C):c.104+2T>C
NM_153676.4(USH1C):c.104+5G>C rs2133927984
NM_153676.4(USH1C):c.105-2A>G
NM_153676.4(USH1C):c.1086-1G>T
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter) rs1591999307
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2185-1G>A
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) rs1591961566
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2381-7_2381del
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter) rs371257969
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
NM_153676.4(USH1C):c.249-1G>A
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter)
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)
NM_153676.4(USH1C):c.2546+1G>A
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.37-1G>C
NM_153676.4(USH1C):c.387+1G>A
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153676.4(USH1C):c.541del (p.Thr181fs)
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
NM_153676.4(USH1C):c.579+1G>A
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.70del (p.Asp24fs)
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
NM_153676.4(USH1C):c.877-2A>G
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs) rs761465345
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter) rs763904943
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.64+1_3138+1del
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln) rs886039810
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr) rs1813039419
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
NM_153717.3(EVC):c.1098+1G>A
NM_153717.3(EVC):c.1099-1G>A
NM_153717.3(EVC):c.1099-2A>C
NM_153717.3(EVC):c.1113del (p.Thr372fs) rs2152076090
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)
NM_153717.3(EVC):c.1409del (p.Gln470fs)
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.1572del (p.Phe525fs)
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1765del (p.Gln589fs)
NM_153717.3(EVC):c.1776+2T>C
NM_153717.3(EVC):c.1803del (p.Ser602fs)
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
NM_153717.3(EVC):c.1886+1G>C rs753679094
NM_153717.3(EVC):c.1886+2T>G rs1713228964
NM_153717.3(EVC):c.1887-2A>T
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
NM_153717.3(EVC):c.2097+1G>A
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2097+2del rs2152340942
NM_153717.3(EVC):c.2098-1G>C rs773019082
NM_153717.3(EVC):c.2098-2A>G rs1714398710
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C
NM_153717.3(EVC):c.2450-1G>A rs1715585498
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2677_2688+7del rs2152387946
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+2T>G
NM_153717.3(EVC):c.26_36del (p.Lys9fs)
NM_153717.3(EVC):c.26del (p.Lys9fs)
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.29_30insA (p.Ser10fs)
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
NM_153717.3(EVC):c.300+1G>T
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
NM_153717.3(EVC):c.37del (p.Arg13fs)
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_153717.3(EVC):c.385-1G>A
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
NM_153717.3(EVC):c.56_174+42del
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+2T>A
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
NM_153717.3(EVC):c.650_651del (p.His217fs)
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.703-1G>C rs1485152854
NM_153717.3(EVC):c.708del (p.Phe236fs)
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801+2T>C
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.802-2A>G
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.910del (p.Arg304fs)
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.939+1G>C rs1553873138
NM_153717.3(EVC):c.940-150T>G rs576076928
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_153816.6(SNX14):c.1725del (p.Phe575fs) rs1311909367
NM_153816.6(SNX14):c.2746-2A>G
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
NM_153816.6(SNX14):c.462-589A>G
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.164A>G (p.Glu55Gly) rs2102817930
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) rs2102817952
NM_170707.4(LMNA):c.331G>A (p.Glu111Lys)
NM_170707.4(LMNA):c.784G>A (p.Glu262Lys) rs397517909
NM_170707.4(LMNA):c.822del (p.Arg275fs) rs2102883169
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe) rs1396840386
NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)
NM_170784.3(MKKS):c.1362_1369dup (p.Val457fs) rs2122220042
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)
NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)
NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.432del (p.Phe144fs)
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)
NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)
NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.845dup (p.Leu283fs) rs1555801973
NM_170784.3(MKKS):c.871G>T (p.Val291Phe)
NM_170784.3(MKKS):c.886del (p.Val296fs)
NM_170784.3(MKKS):c.940_941del (p.Asp314fs) rs2064897670
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
NM_170784.3(MKKS):c.966del (p.Glu322fs)
NM_173477.5(USH1G):c.1004dup (p.Leu336fs) rs1359109336
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173477.5(USH1G):c.1382+2_1382+3del
NM_173477.5(USH1G):c.164+5G>A rs1337840598
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) rs928656346
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter) rs1226851798
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) rs544952984
NM_173477.5(USH1G):c.812del (p.Pro271fs) rs1567939793
NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter) rs747165958
NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn)
NM_173551.5(ANKS6):c.2420dup (p.Thr808fs) rs2131933650
NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro) rs1834431706
NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala) rs1834431047
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) rs1715589813
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.372del (p.Phe124fs) rs1553772595
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_174878.3(CLRN1):c.433+2dup rs1057516687
NM_174878.3(CLRN1):c.434G>T (p.Gly145Val) rs765085056
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) rs201625237
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp) rs775098953
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg) rs2107927490
NM_174916.3(UBR1):c.1539+2T>G rs2033511910
NM_174916.3(UBR1):c.1912-6T>G rs1131691523
NM_174916.3(UBR1):c.4745del (p.Asn1582fs)
NM_174916.3(UBR1):c.529-13G>A rs1265375100
NM_176824.3(BBS7):c.102+1G>T
NM_176824.3(BBS7):c.103-268_112del
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs) rs577434138
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
NM_176824.3(BBS7):c.1305+1G>A
NM_176824.3(BBS7):c.1305+2T>A
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1489del (p.Thr497fs)
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
NM_176824.3(BBS7):c.1512-1G>A rs2149054421
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.166-2A>G
NM_176824.3(BBS7):c.1677-2A>G
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)
NM_176824.3(BBS7):c.1685del (p.Glu562fs)
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1786+2T>C
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
NM_176824.3(BBS7):c.328del (p.Ser110fs)
NM_176824.3(BBS7):c.341+2T>C
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
NM_176824.3(BBS7):c.517dup (p.Arg173fs)
NM_176824.3(BBS7):c.526C>T (p.Gln176Ter) rs2149084783
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.649dup (p.Ala217fs) rs886044668
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420
NM_176824.3(BBS7):c.718+1G>C
NM_176824.3(BBS7):c.719-2A>G
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
NM_176824.3(BBS7):c.72del (p.Pro25fs)
NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
NM_176824.3(BBS7):c.849+1G>A
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)
NM_177398.4(LMX1A):c.331del (p.Gln111fs) rs2102637875
NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.234del (p.Leu79fs) rs765650727
NM_177400.3(NKX6-2):c.287_288dup (p.Ala97fs)
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp) rs2134706153
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_177965.4(CFAP418):c.177del (p.Glu60fs) rs1811931460
NM_177965.4(CFAP418):c.240del (p.Ser81fs) rs1587357327
NM_178170.3(NEK8):c.1359_1360del (p.His454fs) rs1282492342
NM_178170.3(NEK8):c.1418-2A>C
NM_178170.3(NEK8):c.889+2del rs1555564214
NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr) rs780340378
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg) rs752728823
NM_178172.6(GPIHBP1):c.397del (p.Ser133fs)
NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter) rs1284611659
NM_178172.6(GPIHBP1):c.433C>T (p.Arg145Ter) rs759883512
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075
NM_181741.4(ORC4):c.956A>G (p.His319Arg) rs2105259429
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) rs1060499810
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) rs779841884
NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs) rs2106648140
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.10608+1G>C rs1590998146
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
NM_182961.4(SYNE1):c.11894_11895del (p.His3965fs)
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs) rs2096651533
NM_182961.4(SYNE1):c.12079-2A>T rs2154019221
NM_182961.4(SYNE1):c.12351+2T>C rs2154000325
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs) rs2096322248
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs) rs1064794555
NM_182961.4(SYNE1):c.15837_15917+69del rs2153937126
NM_182961.4(SYNE1):c.16237-2A>G rs2153903647
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter) rs758379604
NM_182961.4(SYNE1):c.16896+1G>T
NM_182961.4(SYNE1):c.18157C>T (p.Arg6053Ter)
NM_182961.4(SYNE1):c.18208-1G>A rs2153725036
NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)
NM_182961.4(SYNE1):c.19260+1G>C
NM_182961.4(SYNE1):c.19260+1G>T
NM_182961.4(SYNE1):c.19260+2T>C rs1588855714
NM_182961.4(SYNE1):c.1933-2A>G rs1554753528
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter) rs2090447154
NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs) rs2083582255
NM_182961.4(SYNE1):c.22590-1G>A rs2153409815
NM_182961.4(SYNE1):c.22824+2T>A
NM_182961.4(SYNE1):c.23790+1G>A rs2153025020
NM_182961.4(SYNE1):c.2394+1G>A
NM_182961.4(SYNE1):c.2568+1G>A rs2154261629
NM_182961.4(SYNE1):c.3396-10_3396delinsC rs863224929
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter) rs2098603169
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.4310+1G>A
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys)
NM_182961.4(SYNE1):c.67+2T>A rs762743107
NM_182961.4(SYNE1):c.888+2T>A rs754518742
NM_182961.4(SYNE1):c.888+2T>C
NM_183065.4(TMEM107):c.*609G>A rs200531412
NM_183065.4(TMEM107):c.*696A>G rs779456932
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_194248.2(OTOF):c.[3928_3930dupAAG];[5098G>C]
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) rs1558490542
NM_194248.3(OTOF):c.1804-2A>G rs2148056311
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.1912+5G>C rs2148056188
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2214+5G>C
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup) rs2148050495
NM_194248.3(OTOF):c.2656del (p.Val886fs)
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs) rs773708510
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) rs1558480402
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs) rs1558472243
NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)
NM_194248.3(OTOF):c.5104-1G>T rs2148023761
NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly) rs2148023717
NM_194248.3(OTOF):c.5169_5170del (p.Ile1724fs)
NM_194248.3(OTOF):c.5179del (p.Arg1727fs) rs1664580718
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp) rs2148020419
NM_194248.3(OTOF):c.5534-2A>G rs1664440809
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp) rs2148018483
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.669del (p.Ala224fs) rs2148078546
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)
NM_194248.3(OTOF):c.897+1G>T rs483353049
NM_194292.3(SASS6):c.1057-6_1057-2del
NM_194292.3(SASS6):c.170del (p.Leu57fs) rs763290832
NM_194292.3(SASS6):c.497C>A (p.Ser166Ter)
NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)
NM_198428.2:c.2115+21712_2521+234del
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
NM_198428.3(BBS9):c.1275+1G>A
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1329+1738C>T
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1432+2T>G
NM_198428.3(BBS9):c.1433-2A>G
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.1553-1G>A
NM_198428.3(BBS9):c.1694-2A>G
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
NM_198428.3(BBS9):c.1963-1G>T
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.2116-2A>T
NM_198428.3(BBS9):c.2299-2A>C
NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
NM_198428.3(BBS9):c.2521+1G>T
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_198428.3(BBS9):c.360del (p.Gln120fs)
NM_198428.3(BBS9):c.434del (p.Gly145fs)
NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
NM_198428.3(BBS9):c.702+1G>T
NM_198428.3(BBS9):c.703-1G>C
NM_198428.3(BBS9):c.703-2A>G
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)
NM_198999.3(SLC26A5):c.2146del (p.Arg716fs)
NM_199280.4(TOGARAM2):c.1543C>T (p.Gln515Ter)
NM_199292.2(TH):c.-70G>A rs1372180906
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser) rs1571525145
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) rs1085307972
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe) rs1571848855
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.71-2A>G rs1383691293
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) rs2132991341
NM_201378.4(PLEC):c.70+2T>C rs2132991287
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) rs1060499581
NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) rs1554675388
NM_201384.3(PLEC):c.1738-2A>C
NM_201384.3(PLEC):c.1973_1977+2del
NM_201384.3(PLEC):c.2178+2T>G
NM_201384.3(PLEC):c.2457+1G>A
NM_201384.3(PLEC):c.3261-1G>A rs111730406
NM_201384.3(PLEC):c.7318C>T (p.Gln2440Ter) rs2131266696
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) rs1554686620
NM_201384.3(PLEC):c.826-1G>A
NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) rs1554683108
NM_203486.3(DLL3):c.1272dup (p.Asp425fs)
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)
NM_203486.3(DLL3):c.366_378del (p.Ile123fs) rs2079604821
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) rs1447189148
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter) rs1403618793
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)
NM_206933.4(USH2A):c.10179del (p.Met3393fs) rs1553262411
NM_206933.4(USH2A):c.10183-1375_10387+1389del
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs) rs1553261898
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
NM_206933.4(USH2A):c.10585+1G>A rs2102763351
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs) rs1553261387
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs) rs1553261118
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11231+1G>A rs111033382
NM_206933.4(USH2A):c.11231+1G>T rs111033382
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs) rs1553259060
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.4(USH2A):c.11389+1del rs1414935620
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.4(USH2A):c.11549del rs1660304704
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)
NM_206933.4(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.4(USH2A):c.11703del (p.Phe3901fs) rs1553257497
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
NM_206933.4(USH2A):c.11712-2A>C rs753505333
NM_206933.4(USH2A):c.11712-2A>G rs753505333
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs) rs1553256587
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs) rs1553256576
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12294+1G>C rs111033526
NM_206933.4(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs) rs1553252469
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter) rs1163061829
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs) rs1553252409
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs) rs1553252389
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer) rs1553252363
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs) rs1657920193
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly) rs553956503
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) rs1571947757
NM_206933.4(USH2A):c.13811+2T>C rs766515318
NM_206933.4(USH2A):c.13812-1G>A rs199782530
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
NM_206933.4(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs) rs2102661317
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
NM_206933.4(USH2A):c.14344-1G>A rs919142559
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
NM_206933.4(USH2A):c.14679del (p.Ala4894fs) rs1553250077
NM_206933.4(USH2A):c.14747del (p.Gly4916fs) rs2102642087
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.14791+2T>A rs1553250050
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs) rs2102636006
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs) rs781625683
NM_206933.4(USH2A):c.14969-1G>A rs1553249311
NM_206933.4(USH2A):c.14969-2A>G rs2102634730
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.4(USH2A):c.15052+1G>A rs1553249290
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) rs1571701072
NM_206933.4(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) rs1656163649
NM_206933.4(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.1659del (p.Leu553fs)
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro) rs777701725
NM_206933.4(USH2A):c.1888del (p.Ala630fs) rs2102606427
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser) rs1487450999
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly) rs2102788868
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu) rs45555435
NM_206933.4(USH2A):c.2168-1G>T
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter) rs1438734382
NM_206933.4(USH2A):c.2809+1G>C rs759433119
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
NM_206933.4(USH2A):c.2994-2A>G rs1553316430
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe) rs2102496508
NM_206933.4(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
NM_206933.4(USH2A):c.3158-1G>T
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3317-1G>A rs1553313909
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs) rs1553313844
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter) rs762167370
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter) rs767797828
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs) rs1553313793
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
NM_206933.4(USH2A):c.3812-3_3837dup rs780071028
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3891del (p.Gln1298fs) rs1553313551
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
NM_206933.4(USH2A):c.4081+2T>C rs1553313505
NM_206933.4(USH2A):c.4082-2A>G rs1553313340
NM_206933.4(USH2A):c.4087del (p.Val1363fs) rs2102460761
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
NM_206933.4(USH2A):c.4251+1del rs2102460236
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter) rs746900872
NM_206933.4(USH2A):c.486-2A>C
NM_206933.4(USH2A):c.4886-1G>A rs1553300340
NM_206933.4(USH2A):c.4988-2A>G rs143521854
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
NM_206933.4(USH2A):c.5167+1G>T rs794727408
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro) rs2102559645
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs) rs1553299046
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter) rs763831329
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs) rs1553297684
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
NM_206933.4(USH2A):c.6050-2A>G rs772124060
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) rs1209837469
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6163+1G>A rs2030617696
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6326-10882_6326-10769del rs2102492616
NM_206933.4(USH2A):c.6326-2A>G rs1553287118
NM_206933.4(USH2A):c.6326-3_6332del rs1553287116
NM_206933.4(USH2A):c.6354del (p.Leu2119fs) rs2102483305
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.647T>G (p.Val216Gly) rs1571801514
NM_206933.4(USH2A):c.6485+1G>A rs1553287070
NM_206933.4(USH2A):c.651+1G>A rs1553257761
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs) rs1553285970
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs) rs1553285944
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.4(USH2A):c.6805+1G>T rs1553285919
NM_206933.4(USH2A):c.6810del (p.Ile2271fs) rs1553282707
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs) rs1553282698
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.6957+1G>C rs2102458321
NM_206933.4(USH2A):c.698del (p.Asp233fs)
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs) rs1667314337
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs) rs1553281890
NM_206933.4(USH2A):c.7120+1475A>G
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs) rs1553277866
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs) rs2102499717
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.4(USH2A):c.7531del (p.Val2511fs) rs1553274435
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.4(USH2A):c.7595-1G>A rs1553273421
NM_206933.4(USH2A):c.7595-1G>T rs1553273421
NM_206933.4(USH2A):c.7595-2A>G rs1064795047
NM_206933.4(USH2A):c.7620del (p.Leu2541fs) rs1553273412
NM_206933.4(USH2A):c.7862del (p.Pro2621fs) rs2102460381
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
NM_206933.4(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.4(USH2A):c.8266del (p.Ser2756fs) rs1558141330
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) rs2037760521
NM_206933.4(USH2A):c.8391del (p.Gly2799fs) rs1553272176
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) rs2037760415
NM_206933.4(USH2A):c.848+2T>C rs2102658759
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) rs2102451648
NM_206933.4(USH2A):c.849-2A>G rs2102656326
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs) rs1553272035
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
NM_206933.4(USH2A):c.8682-1G>A rs1553271001
NM_206933.4(USH2A):c.8682-2A>C rs1553271002
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg) rs1571762632
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter) rs1553270960
NM_206933.4(USH2A):c.8845+1G>A rs1553270954
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.8846-2A>G rs1553268594
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.9055+1G>A rs1553268562
NM_206933.4(USH2A):c.9055+1del rs1553268563
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.9191del (p.Thr3064fs) rs1553268435
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs) rs1553268434
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter) rs1662880811
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter) rs1553265829
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer) rs2102796345
NM_206933.4(USH2A):c.956del (p.Cys319fs)
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
NM_206933.4(USH2A):c.9739+1G>C rs2102792994
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp) rs780036975
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr) rs1869732816
NM_207361.6(FREM2):c.2833del (p.His945fs) rs759257554
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter) rs376122266
NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)
NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly) rs1869886793
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044
NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs) rs2137911471
NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)
NM_207361.6(FREM2):c.7546dup (p.Val2516fs)
NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter)
NM_207361.6(FREM2):c.8376del (p.Val2793fs)
NM_213599.2(ANO5):c.[155A>G];[191dupA]
NM_213599.3(ANO5):c.1025G>A (p.Cys342Tyr)
NM_213599.3(ANO5):c.1180+1G>C
NM_213599.3(ANO5):c.1181-1G>A
NM_213599.3(ANO5):c.1261C>T (p.Gln421Ter) rs1554930314
NM_213599.3(ANO5):c.1333-2A>G rs2133730668
NM_213599.3(ANO5):c.1333-2A>T rs2133730668
NM_213599.3(ANO5):c.1451G>A (p.Arg484His)
NM_213599.3(ANO5):c.1499C>T (p.Ser500Phe)
NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)
NM_213599.3(ANO5):c.1630+2T>G rs1590300702
NM_213599.3(ANO5):c.1631-12_1631-2del rs886043327
NM_213599.3(ANO5):c.1639C>G (p.Arg547Gly) rs747719953
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.3(ANO5):c.1707C>G (p.Tyr569Ter)
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter) rs188150039
NM_213599.3(ANO5):c.180+2T>C rs1564918396
NM_213599.3(ANO5):c.1801-1G>C rs2133750487
NM_213599.3(ANO5):c.1898+1del
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
NM_213599.3(ANO5):c.2414+1G>C rs2133795361
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.3(ANO5):c.294+1G>A
NM_213599.3(ANO5):c.295-1G>A rs780109230
NM_213599.3(ANO5):c.295-2A>G
NM_213599.3(ANO5):c.352del (p.Glu118fs) rs878854367
NM_213599.3(ANO5):c.364-1G>A rs1852871649
NM_213599.3(ANO5):c.395A>T (p.Lys132Met) rs1852872996
NM_213599.3(ANO5):c.396G>C (p.Lys132Asn) rs375867377
NM_213599.3(ANO5):c.40+2T>C
NM_213599.3(ANO5):c.649-2A>G rs773736505
NM_213599.3(ANO5):c.878+1G>A
NM_213599.3(ANO5):c.88-1G>A
NM_213599.3(ANO5):c.952G>C (p.Ala318Pro) rs2133702263
NM_213599.3(ANO5):c.[1520del];[155A>G]
NP_005700.2(USH1C):p.Arg357Trp
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC rs1554651486
NR_003051.3(RMRP):n.-11_-2dup10 rs1587919129
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-13_-4dup10 rs1554651424
NR_003051.3(RMRP):n.-13_-6dup rs1563907946
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-15_-8dup rs1230629953
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
NR_003051.3(RMRP):n.-18_-1dup rs1554651396
NR_003051.3(RMRP):n.-18_-2dup17 rs1587919165
NR_003051.3(RMRP):n.-18_-7dup12 rs1554651466
NR_003051.3(RMRP):n.-18_-8dup11 rs1230629953
NR_003051.3(RMRP):n.-18_-9dup10 rs1554651481
NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC rs1823648167
NR_003051.3(RMRP):n.-19_-5dup rs1823637565
NR_003051.3(RMRP):n.-19_1dup20 rs1554651382
NR_003051.3(RMRP):n.-1_1ins16 rs1554651395
NR_003051.3(RMRP):n.-1_1ins21 rs1218494857
NR_003051.3(RMRP):n.-1_1ins22 rs1554651397
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-12dup rs1554651503
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC rs1554651469
NR_003051.3(RMRP):n.-20_-3dup rs1554651418
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-12dup10 rs1554651503
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
NR_003051.3(RMRP):n.-21_-6dup16 rs1554651451
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-23_-14dup10 rs1554651524
NR_003051.3(RMRP):n.-23_-7dup17 rs920074067
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-15dup10 rs1554651532
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-24_-3dup22 rs1554651411
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-25_-12dup rs1554651499
NR_003051.3(RMRP):n.-25_-13dup rs1554651508
NR_003051.3(RMRP):n.-25_-14dup12 rs1554651526
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
NR_003051.3(RMRP):n.-7_-6ins16 rs1554651461
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA rs1823639598
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.-7_2dup9 rs1554651365
NR_003051.3(RMRP):n.-8_-7ins15 rs1230629953
NR_003051.3(RMRP):n.-8_-7ins20 rs1554651471
NR_003051.3(RMRP):n.-9_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.1_2ins13 rs1554651368
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.3_4ins10 rs759665242
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.184G>T rs1554651153
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.97_98dup rs1340624774
Single allele

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