NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)
|
rs755097302
|
0.00004
|
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)
|
rs150242262
|
0.00004
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)
|
rs149170427
|
0.00002
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter)
|
rs1200574734
|
0.00001
|
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs)
|
rs1327245073
|
0.00001
|
NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter)
|
rs1285358729
|
0.00001
|
NM_001384732.1(CPLANE1):c.3673-1G>C
|
rs886041688
|
0.00001
|
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)
|
rs869312898
|
0.00001
|
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)
|
rs1398880084
|
0.00001
|
NM_001384732.1(CPLANE1):c.4482-1G>T
|
rs774492992
|
0.00001
|
NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter)
|
rs1482303814
|
0.00001
|
NM_015631.6(TCTN3):c.1203+1G>C
|
rs1221992171
|
0.00001
|
NM_015631.6(TCTN3):c.627+1G>A
|
rs1566074908
|
0.00001
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val)
|
rs2150361119
|
|
NM_001384732.1(CPLANE1):c.2854_2855insCT (p.Asn952fs)
|
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs)
|
rs2150128669
|
|
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs)
|
rs1561584225
|
|
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu)
|
rs141153181
|
|
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
|
|
|
NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly)
|
rs759649053
|
|
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs)
|
rs777045246
|
|
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer)
|
rs962476553
|
|
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
|
|
|
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter)
|
rs2150954061
|
|
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs)
|
rs747815682
|
|
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs)
|
rs1779035528
|
|
NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=)
|
rs753791198
|
|
NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp)
|
rs1799919744
|
|
NM_001384732.1(CPLANE1):c.834+1G>A
|
rs1581014582
|
|
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs)
|
rs1579740974
|
|
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del)
|
rs1797611349
|
|
NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T]
|
|
|
NM_002601.4(PDE6D):c.257del (p.Cys86fs)
|
rs2048717087
|
|
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)
|
rs1559307932
|
|
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
|
|
|
NM_003611.3(OFD1):c.2387+1G>A
|
rs2047914412
|
|
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter)
|
rs2147060430
|
|
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del)
|
rs1131691889
|
|
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)
|
rs1555904005
|
|
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs)
|
rs2139731384
|
|
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
|
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
NM_015631.6(TCTN3):c.737-1G>C
|
|
|
NM_015631.6(TCTN3):c.853-2A>G
|
|
|
NM_015631.6(TCTN3):c.969+2T>G
|
|
|
NM_015631.6(TCTN3):c.970-2A>G
|
rs777263669
|
|
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
|
|
|