NM_001037132.4(NRCAM):c.2557C>T (p.Arg853Cys)
|
rs150373689
|
0.00031
|
NM_001037132.4(NRCAM):c.1406A>G (p.Asn469Ser)
|
rs201033539
|
0.00030
|
NM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr)
|
rs139634064
|
0.00019
|
NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr)
|
rs763701580
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)
|
rs747569790
|
0.00003
|
NM_001037132.4(NRCAM):c.2647-2A>G
|
rs1298979445
|
0.00001
|
NM_001037132.4(NRCAM):c.590G>A (p.Gly197Asp)
|
rs772993703
|
0.00001
|
NM_000318.3(PEX2):c.550del (p.Cys184fs)
|
rs63545361
|
|
NM_000430.4(PAFAH1B1):c.368T>A (p.Met123Lys)
|
rs1334642659
|
|
NM_000548.5(TSC2):c.481+1G>A
|
rs45488500
|
|
NM_001037132.4(NRCAM):c.164A>G (p.Asp55Gly)
|
rs1413634373
|
|
NM_001037132.4(NRCAM):c.2297_2302delinsTC (p.Thr766fs)
|
rs2153369022
|
|
NM_001037132.4(NRCAM):c.2738G>A (p.Gly913Asp)
|
rs2062777274
|
|
NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter)
|
rs2153275538
|
|
NM_001037132.4(NRCAM):c.331G>T (p.Glu111Ter)
|
rs140770274
|
|
NM_001037132.4(NRCAM):c.400T>C (p.Ser134Pro)
|
rs2153741176
|
|
NM_001042475.3(CEP85L):c.232+2T>A
|
rs2115322443
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)
|
rs757984572
|
|
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)
|
rs886039407
|
|
NM_001374353.1(GLI2):c.2338del (p.Thr780fs)
|
rs2105085199
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)
|
rs587780588
|
|
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr)
|
rs864321627
|
|
NM_004859.4(CLTC):c.4739A>G (p.Asp1580Gly)
|
rs2143602393
|
|
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)
|
rs797046071
|
|
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser)
|
rs1942169629
|
|
NM_006587.4(CORIN):c.684dup (p.Met229fs)
|
rs756399499
|
|
NM_207037.2(TCF12):c.207del (p.Tyr70fs)
|
rs2141725707
|
|