NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu)
|
rs28522910
|
0.69466
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000260.4(MYO7A):c.468C>T (p.Ile156=)
|
rs12420129
|
0.03116
|
NM_000271.5(NPC1):c.1947+17T>G
|
rs879174633
|
0.02464
|
NM_000083.3(CLCN1):c.2284+5C>T
|
rs74824159
|
0.01735
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_006208.3(ENPP1):c.313+11_313+15del
|
rs771304080
|
0.00163
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp)
|
rs145208009
|
0.00101
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00063
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_001184.4(ATR):c.4641+15C>T
|
rs200619976
|
0.00050
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe)
|
rs200732690
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)
|
rs145045986
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)
|
rs138379977
|
0.00026
|
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)
|
rs767503038
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)
|
rs376823382
|
0.00022
|
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg)
|
rs200720523
|
0.00022
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)
|
rs574482100
|
0.00020
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)
|
rs200410163
|
0.00015
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
|
rs199766569
|
0.00014
|
NM_201384.3(PLEC):c.11394G>A (p.Arg3798=)
|
rs368222729
|
0.00014
|
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu)
|
rs199651668
|
0.00014
|
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)
|
rs749550071
|
0.00013
|
NM_000360.4(TH):c.91-868C>T
|
rs148235227
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_001384140.1(PCDH15):c.4671+1355A>G
|
rs372184022
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_018075.5(ANO10):c.223T>A (p.Ser75Thr)
|
rs191413952
|
0.00011
|
NM_018699.4(PRDM5):c.1282+9C>T
|
rs79915407
|
0.00011
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)
|
rs753744791
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_003193.5(TBCE):c.100+1G>A
|
rs200356271
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)
|
rs782222671
|
0.00008
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00006
|
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
|
rs199633103
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000260.4(MYO7A):c.3750+20C>T
|
rs577104822
|
0.00005
|
NM_000360.4(TH):c.110G>A (p.Arg37His)
|
rs368122376
|
0.00005
|
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
|
rs398122967
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)
|
rs767366093
|
0.00004
|
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu)
|
rs144754091
|
0.00004
|
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
|
rs770896540
|
0.00004
|
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)
|
rs771538008
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr)
|
rs374401585
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
|
rs145667849
|
0.00003
|
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)
|
rs397514532
|
0.00003
|
NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter)
|
rs370101518
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)
|
rs752729755
|
0.00003
|
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)
|
rs561018129
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg)
|
rs766752510
|
0.00003
|
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)
|
rs749063844
|
0.00003
|
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn)
|
rs749491943
|
0.00003
|
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys)
|
rs527527845
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
0.00002
|
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp)
|
rs777486535
|
0.00002
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys)
|
rs761288523
|
0.00002
|
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)
|
rs781096189
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_020921.4(NIN):c.349G>A (p.Val117Met)
|
rs374373270
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_201384.3(PLEC):c.10934G>A (p.Arg3645His)
|
rs374762979
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)
|
rs1057518917
|
0.00001
|
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly)
|
rs555680428
|
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_000124.4(ERCC6):c.2840G>A (p.Arg947Gln)
|
rs1332662295
|
0.00001
|
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter)
|
rs2083734400
|
0.00001
|
NM_000254.3(MTR):c.2474-1G>C
|
rs757963570
|
0.00001
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299
|
0.00001
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00001
|
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met)
|
rs769205075
|
0.00001
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)
|
rs1438879558
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000372.5(TYR):c.74dup (p.Ser26fs)
|
rs1057518763
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
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_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile)
|
rs1425787315
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_001347702.2(SYNE1):c.1472A>G (p.Tyr491Cys)
|
rs1384400002
|
0.00001
|
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)
|
rs887755283
|
0.00001
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser)
|
rs777886341
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002230.4(JUP):c.1805G>A (p.Arg602His)
|
rs909955430
|
0.00001
|
NM_002230.4(JUP):c.406G>A (p.Asp136Asn)
|
rs782392706
|
0.00001
|
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys)
|
rs746613906
|
0.00001
|
NM_003673.4(TCAP):c.389G>A (p.Arg130His)
|
rs147503632
|
0.00001
|
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn)
|
rs771588131
|
0.00001
|
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln)
|
rs373679838
|
0.00001
|
NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys)
|
rs778979756
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
|
rs1455568421
|
0.00001
|
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp)
|
rs1202116887
|
0.00001
|
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys)
|
rs757903145
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)
|
rs367572249
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_014906.5(PPM1E):c.*1892T>A
|
rs1567903706
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)
|
rs763075073
|
0.00001
|
NM_016529.6(ATP8A2):c.1058-2A>G
|
rs1304832284
|
0.00001
|
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His)
|
rs1194702277
|
0.00001
|
NM_018249.6(CDK5RAP2):c.1627-18G>T
|
rs762782636
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter)
|
rs374351172
|
0.00001
|
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)
|
rs797045450
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_020921.4(NIN):c.6079-1686G>A
|
rs1310109020
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025132.4(WDR19):c.291-12_291-11del
|
rs1324399102
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr)
|
rs2041656946
|
0.00001
|
NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln)
|
rs746107537
|
0.00001
|
NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met)
|
rs189960711
|
0.00001
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)
|
rs760233343
|
0.00001
|
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
|
rs755612537
|
0.00001
|
NM_206933.4(USH2A):c.6805+195T>G
|
rs1193295201
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
NC_000004.12:g.39348425AAGGG[(400_2000)]
|
|
|
NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
|
rs2077528154
|
|
NM_000019.4(ACAT1):c.826+2T>G
|
rs2077590197
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000023.4(SGCA):c.781G>T (p.Val261Leu)
|
rs754703769
|
|
NM_000083.3(CLCN1):c.2284+12C>G
|
rs1472307602
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000083.3(CLCN1):c.979+1G>T
|
rs1563078827
|
|
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)
|
rs61749896
|
|
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)
|
rs1057518910
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln)
|
rs1589713974
|
|
NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly)
|
rs1458081920
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000254.3(MTR):c.610-1G>T
|
rs1661544157
|
|
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)
|
rs782311929
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455
|
|
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile)
|
rs1957644487
|
|
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)
|
rs1223784415
|
|
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)
|
rs2059213874
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
NM_000277.3(PAH):c.912+2T>C
|
rs281865449
|
|
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr)
|
rs2072790056
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)
|
rs1770436260
|
|
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)
|
rs267608247
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
NM_000352.6(ABCC8):c.3399+6G>A
|
rs1954472209
|
|
NM_000360.4(TH):c.818A>C (p.Glu273Ala)
|
rs1846110049
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000553.6(WRN):c.724+1G>T
|
rs1339616347
|
|
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)
|
rs374292194
|
|
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)
|
rs80359845
|
|
NM_001083961.2(WDR62):c.2728C>A (p.Leu910Met)
|
rs1279068945
|
|
NM_001111.5(ADAR):c.1A>G (p.Met1Val)
|
rs1698314927
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg)
|
rs1697938546
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)
|
rs1977160529
|
|
NM_001184.4(ATR):c.7399G>A (p.Val2467Ile)
|
rs144887641
|
|
NM_001184.4(ATR):c.7408A>G (p.Ile2470Val)
|
rs2070968355
|
|
NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter)
|
rs1897359016
|
|
NM_001199107.2(TBC1D24):c.1205A>C (p.Glu402Ala)
|
rs2065771759
|
|
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu)
|
rs2065782431
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu)
|
rs1244319253
|
|
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)
|
rs1555518955
|
|
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)
|
rs1671880064
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs)
|
rs2094144598
|
|
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala)
|
rs775845546
|
|
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu)
|
rs1192977984
|
|
NM_001690.4(ATP6V1A):c.1227-6A>G
|
rs1709148623
|
|
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu)
|
rs1709239976
|
|
NM_001813.3(CENPE):c.2132-1G>C
|
rs1754377539
|
|
NM_002160.4(TNC):c.6496-18del
|
rs1419724369
|
|
NM_002160.4(TNC):c.890A>G (p.Asn297Ser)
|
rs1554717312
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002230.4(JUP):c.1807G>A (p.Val603Met)
|
rs200327969
|
|
NM_002230.4(JUP):c.73_88del (p.Gly25fs)
|
rs1916687478
|
|
NM_002485.5(NBN):c.248T>A (p.Met83Lys)
|
rs940160589
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002617.4(PEX10):c.50A>G (p.Lys17Arg)
|
rs1643273662
|
|
NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala)
|
rs1294003725
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004056.6(CA8):c.730dup (p.Gln244fs)
|
rs1807291595
|
|
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)
|
rs141979823
|
|
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
|
rs2086667654
|
|
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu)
|
rs1777294344
|
|
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)
|
rs1055176338
|
|
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)
|
rs1574643342
|
|
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn)
|
rs767712795
|
|
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys)
|
rs1409823509
|
|
NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg)
|
rs201375747
|
|
NM_006846.4(SPINK5):c.1431-12G>A
|
rs368134354
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly)
|
rs1868466055
|
|
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter)
|
rs765514069
|
|
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)
|
rs373403222
|
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
|
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala)
|
rs1843502057
|
|
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
|
rs780905861
|
|
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
|
rs770291169
|
|
NM_015311.3(OBSL1):c.2635del (p.Cys879fs)
|
rs1696644780
|
|
NM_015340.4(LARS2):c.1077del (p.Ile360fs)
|
rs398123037
|
|
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
|
rs2035763126
|
|
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp)
|
rs774357851
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_018249.6(CDK5RAP2):c.881C>T (p.Ala294Val)
|
rs757203397
|
|
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn)
|
rs759022476
|
|
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)
|
rs1943353362
|
|
NM_020458.4(TTC7A):c.764+5G>A
|
rs1180479579
|
|
NM_020921.4(NIN):c.5302G>T (p.Val1768Phe)
|
rs151233126
|
|
NM_021971.4(GMPPB):c.684dup (p.Met229fs)
|
rs2080427976
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024596.5(MCPH1):c.2002del (p.Asp668fs)
|
rs1809112398
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln)
|
rs1718978389
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln)
|
rs1466311097
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)
|
rs2033943524
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs)
|
rs1973248576
|
|
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs)
|
rs774464372
|
|
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)
|
rs2065449579
|
|
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser)
|
rs1194313858
|
|
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
|
rs770082088
|
|
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly)
|
rs2076305966
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1626A>G (p.Glu542=)
|
rs1734453026
|
|
NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu)
|
rs1734780550
|
|
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)
|
rs1287548904
|
|
NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly)
|
rs1432160044
|
|
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile)
|
rs1271495869
|
|
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter)
|
rs1811318008
|
|
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs)
|
rs1771488619
|
|
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg)
|
rs1785450007
|
|
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val)
|
rs1699480267
|
|
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe)
|
rs1699444080
|
|
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp)
|
rs1850407138
|
|
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
|
rs1784370895
|
|
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs)
|
rs2096651533
|
|
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter)
|
rs866163858
|
|
NM_182961.4(SYNE1):c.17203-5C>A
|
rs886044642
|
|
NM_182961.4(SYNE1):c.20863-5T>G
|
rs2082753195
|
|
NM_182961.4(SYNE1):c.888+2T>A
|
rs754518742
|
|
NM_182961.4(SYNE1):c.9827A>G (p.Asp3276Gly)
|
rs188684213
|
|
NM_201384.3(PLEC):c.435+3A>T
|
rs1829221550
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
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.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
|
rs1657920193
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
|
rs776323626
|
|
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|