|
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu)
|
rs12407578
|
0.00280
|
|
NM_001083961.2(WDR62):c.1640C>T (p.Thr547Met)
|
rs756313871
|
0.00005
|
|
NM_001145809.2(MYH14):c.3973C>T (p.Arg1325Trp)
|
rs376705845
|
0.00004
|
|
NM_024009.3(GJB3):c.586G>A (p.Ala196Thr)
|
rs138304650
|
0.00002
|
|
NM_000288.4(PEX7):c.534G>C (p.Gln178His)
|
rs746010906
|
0.00001
|
|
NM_000372.5(TYR):c.1101C>A (p.His367Gln)
|
rs139091458
|
0.00001
|
|
NM_001379286.1(ZNF423):c.3223G>A (p.Ala1075Thr)
|
rs774865680
|
0.00001
|
|
NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser)
|
rs1760423963
|
0.00001
|
|
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp)
|
rs775767366
|
0.00001
|
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
|
NM_000254.3(MTR):c.2044-1G>T
|
|
|
|
NM_000426.4(LAMA2):c.7750-2A>G
|
rs778539477
|
|
|
NM_000554.6(CRX):c.29A>G (p.His10Arg)
|
rs754630141
|
|
|
NM_001042472.3(ABHD12):c.544G>A (p.Gly182Arg)
|
rs2145961090
|
|
|
NM_001048174.2(MUTYH):c.169C>G (p.His57Asp)
|
|
|
|
NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala)
|
|
|
|
NM_001384140.1(PCDH15):c.157+3_157+6del
|
rs1308495572
|
|
|
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val)
|
rs2031770749
|
|
|
NM_002473.6(MYH9):c.5286C>G (p.Ile1762Met)
|
rs1603482715
|
|
|
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu)
|
rs1185010700
|
|
|
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr)
|
rs1947056659
|
|
|
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
|
|
|
|
NM_014875.3(KIF14):c.14G>T (p.Ser5Ile)
|
rs1256629719
|
|
|
NM_017613.4(DONSON):c.48del (p.Glu17fs)
|
rs2145910302
|
|
|
NM_017613.4(DONSON):c.631C>G (p.Arg211Gly)
|
rs774052186
|
|
|
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)
|
rs1060499557
|
|
|
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)
|
rs1181378221
|
|
|
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
|
|
|
|
NM_032808.7(LINGO1):c.158G>A (p.Arg53His)
|
|
|
|
NM_170682.4(P2RX2):c.1037C>G (p.Ala346Gly)
|
|
|
|
NM_170707.4(LMNA):c.164A>G (p.Glu55Gly)
|
rs2102817930
|
|
|
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys)
|
rs757308523
|
|
|
NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter)
|
rs1396081975
|
|
|
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
|
rs773616244
|
|
|
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
|
rs764339075
|
|
|
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter)
|
rs2098101022
|
|
|
NM_194248.3(OTOF):c.5179del (p.Arg1727fs)
|
rs1664580718
|
|
|
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly)
|
rs2102788868
|
|
|
NM_206933.4(USH2A):c.2168-1G>T
|
|
|
|
NM_206933.4(USH2A):c.4115C>A (p.Pro1372His)
|
rs2034853248
|
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|