NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)
|
rs138307707
|
0.00078
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met)
|
rs767795351
|
0.00011
|
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)
|
rs762334954
|
0.00009
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)
|
rs569364202
|
0.00006
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp)
|
rs781335672
|
0.00002
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)
|
rs369291837
|
0.00002
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr)
|
rs758680191
|
0.00002
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val)
|
rs755433765
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met)
|
rs377393431
|
0.00001
|
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)
|
rs564631426
|
0.00001
|
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)
|
rs781261962
|
0.00001
|
NM_000372.5(TYR):c.1110G>A (p.Met370Ile)
|
rs1207709557
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
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.958A>G (p.Asn320Asp)
|
rs779927660
|
0.00001
|
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser)
|
rs367567630
|
0.00001
|
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)
|
rs80358263
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)
|
rs398124401
|
0.00001
|
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln)
|
rs779998311
|
0.00001
|
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly)
|
rs1341032857
|
0.00001
|
Multiple alleles
|
|
|
NC_000005.10:g.(42700003_42711206)_(42719424_?)del
|
|
|
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
|
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
|
|
|
NM_000070.3:g.(42408325_42409302)_(42412214_?)del
|
|
|
NM_000163.5(GHR):c.618+792A>G
|
rs1011727375
|
|
NM_000260.4(MYO7A):c.496del (p.Glu166fs)
|
rs111033448
|
|
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
|
|
|
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
|
|
|
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val)
|
rs756239485
|
|
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
|
|
|
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)
|
rs62637007
|
|
NM_000329.3(RPE65):c.644-5T>A
|
rs2100819923
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu)
|
rs1564854760
|
|
NM_000426.4(LAMA2):c.2877_2878dup (p.Ser960fs)
|
|
|
NM_000426.4(LAMA2):c.4959+1del
|
rs1583591577
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)
|
rs1422720020
|
|
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His)
|
rs2134017443
|
|
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
|
|
|
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
|
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
|
|
|
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
|
|
|
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)
|
rs1057519019
|
|
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter)
|
rs1568406407
|
|
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
|
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001080414.4(CCDC88C):c.161+5G>A
|
rs1887078001
|
|
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter)
|
rs1886637325
|
|
NM_001130987.2(DYSF):c.1493+2dup
|
rs753885022
|
|
NM_001130987.2(DYSF):c.2217-1G>T
|
rs886044379
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)
|
rs770905160
|
|
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)
|
rs1131692158
|
|
NM_001130987.2(DYSF):c.730del (p.Leu244fs)
|
rs1553521119
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
|
|
|
NM_001278064.2(GRM1):c.26dup (p.Ala11fs)
|
rs758809498
|
|
NM_001283009.2(RTEL1):c.2932_2944del (p.Tyr978fs)
|
rs2090805858
|
|
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg)
|
rs1555465003
|
|
NM_001378454.1(ALMS1):c.11326C>T (p.His3776Tyr)
|
rs2104107559
|
|
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr)
|
rs962629988
|
|
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
|
|
|
NM_001384140.1(PCDH15):c.4671+1393G>C
|
|
|
NM_002335.4(LRP5):c.2371A>G (p.Met791Val)
|
|
|
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
|
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004056.6(CA8):c.100+1G>A
|
rs1563390893
|
|
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
|
|
|
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
|
|
|
NM_006432.5(NPC2):c.82+2T>C
|
rs879253740
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly)
|
rs764254189
|
|
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys)
|
rs1561894798
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter)
|
rs997408852
|
|
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg)
|
rs146587418
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
|
|
|
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn)
|
rs1318444606
|
|
NM_022124.6(CDH23):c.9380+5G>C
|
|
|
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)
|
rs1399346230
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)
|
|
|
NM_024989.4(PGAP1):c.2286+5G>A
|
rs937847069
|
|
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)
|
rs773649192
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
|
|
|
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)
|
|
|
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly)
|
rs1469032409
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|