NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)
|
rs762334954
|
0.00009
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667
|
0.00004
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)
|
rs267607016
|
0.00001
|
NM_020632.3(ATP6V0A4):c.16C>T (p.Arg6Ter)
|
rs769417807
|
0.00001
|
NM_144596.4(TTC8):c.265+1G>A
|
rs139234943
|
0.00001
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)
|
rs754392413
|
|
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)
|
rs1180888940
|
|
NM_001127671.2(LIFR):c.2497+1G>A
|
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001267550.2(TTN):c.10115-1G>A
|
rs2088245783
|
|
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer)
|
rs1575175498
|
|
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg)
|
rs2154299294
|
|
NM_001267550.2(TTN):c.46455del (p.Pro15486fs)
|
rs2154210615
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)
|
rs797044907
|
|
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro)
|
rs2154008646
|
|
NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys)
|
rs1234992727
|
|
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu)
|
rs1376293618
|
|
NM_014168.4(METTL5):c.406+5G>A
|
rs2105721464
|
|
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
|
|
|
NM_015311.3(OBSL1):c.2164del (p.Asp722fs)
|
rs1696816233
|
|
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val)
|
rs772644485
|
|
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu)
|
rs750000898
|
|
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del)
|
rs2103862688
|
|
NM_016194.4(GNB5):c.239-2A>C
|
rs1379641378
|
|
NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr)
|
rs2139289899
|
|
NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu)
|
rs144732839
|
|
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)
|
rs587777445
|
|
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)
|
rs557166582
|
|
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)
|
rs554813030
|
|
NM_025074.7(FRAS1):c.5166del (p.Val1723fs)
|
rs2110390266
|
|
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)
|
rs2137303851
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)
|
rs886041062
|
|
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)
|
rs2102817952
|
|
NM_170707.4(LMNA):c.784G>A (p.Glu262Lys)
|
rs397517909
|
|
NM_198999.3(SLC26A5):c.949del (p.Val317fs)
|
rs770663172
|
|