NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)
|
rs189174414
|
0.00020
|
NM_001876.4(CPT1A):c.1163+1G>A
|
rs148059333
|
0.00005
|
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)
|
rs753776604
|
0.00002
|
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)
|
rs80356783
|
0.00001
|
NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp)
|
rs80356777
|
0.00001
|
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)
|
rs80356784
|
0.00001
|
NM_001876.4(CPT1A):c.167C>T (p.Pro56Leu)
|
rs1249954316
|
0.00001
|
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)
|
rs773153659
|
0.00001
|
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)
|
rs80356780
|
0.00001
|
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn)
|
rs766819782
|
0.00001
|
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)
|
rs1211665230
|
0.00001
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
NC_000011.9:g.(?_68540723)_(68549437_?)dup
|
|
|
NC_000011.9:g.(?_68548098)_(68552488_?)dup
|
|
|
NC_000011.9:g.(?_68560773)_(68564411_?)dup
|
|
|
NM_001876.4(CPT1A):c.1011C>A (p.Tyr337Ter)
|
|
|
NM_001876.4(CPT1A):c.1018G>T (p.Gly340Ter)
|
|
|
NM_001876.4(CPT1A):c.101C>T (p.Ser34Phe)
|
rs1856355607
|
|
NM_001876.4(CPT1A):c.1037G>A (p.Trp346Ter)
|
|
|
NM_001876.4(CPT1A):c.1113_1120del (p.Glu372fs)
|
|
|
NM_001876.4(CPT1A):c.1163+2T>C
|
rs1555229059
|
|
NM_001876.4(CPT1A):c.116G>A (p.Trp39Ter)
|
|
|
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)
|
rs1478167106
|
|
NM_001876.4(CPT1A):c.1406_1407del (p.Leu469fs)
|
|
|
NM_001876.4(CPT1A):c.1458+1G>A
|
rs1555228470
|
|
NM_001876.4(CPT1A):c.1459-1G>A
|
rs1057517046
|
|
NM_001876.4(CPT1A):c.1489_1490dup (p.Tyr498fs)
|
|
|
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)
|
rs80356791
|
|
NM_001876.4(CPT1A):c.1573G>T (p.Glu525Ter)
|
|
|
NM_001876.4(CPT1A):c.1575+1G>A
|
rs1282293820
|
|
NM_001876.4(CPT1A):c.1575+1G>T
|
|
|
NM_001876.4(CPT1A):c.1576-2A>G
|
rs1555227607
|
|
NM_001876.4(CPT1A):c.16C>T (p.Gln6Ter)
|
|
|
NM_001876.4(CPT1A):c.1707del (p.Phe569fs)
|
|
|
NM_001876.4(CPT1A):c.1711C>T (p.Gln571Ter)
|
rs1057516586
|
|
NM_001876.4(CPT1A):c.1740+1G>A
|
|
|
NM_001876.4(CPT1A):c.1740+1G>T
|
|
|
NM_001876.4(CPT1A):c.1741-1G>A
|
|
|
NM_001876.4(CPT1A):c.1783C>T (p.Arg595Trp)
|
|
|
NM_001876.4(CPT1A):c.1829_1830del (p.Thr610fs)
|
|
|
NM_001876.4(CPT1A):c.1835C>G (p.Ser612Ter)
|
|
|
NM_001876.4(CPT1A):c.1858del (p.Val620fs)
|
|
|
NM_001876.4(CPT1A):c.186G>A (p.Trp62Ter)
|
rs1057516434
|
|
NM_001876.4(CPT1A):c.1876-1G>A
|
rs80356798
|
|
NM_001876.4(CPT1A):c.1876-1G>C
|
rs80356798
|
|
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)
|
|
|
NM_001876.4(CPT1A):c.1883del (p.Gln628fs)
|
|
|
NM_001876.4(CPT1A):c.1914_1915del (p.Lys639fs)
|
|
|
NM_001876.4(CPT1A):c.1993_1995delinsT (p.Lys665fs)
|
|
|
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter)
|
rs1057516800
|
|
NM_001876.4(CPT1A):c.2015del (p.Pro672fs)
|
|
|
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer)
|
rs1163935346
|
|
NM_001876.4(CPT1A):c.2028+1G>A
|
rs2153994981
|
|
NM_001876.4(CPT1A):c.2028+2T>G
|
rs1555226417
|
|
NM_001876.4(CPT1A):c.2029-1G>C
|
|
|
NM_001876.4(CPT1A):c.2047A>T (p.Arg683Ter)
|
|
|
NM_001876.4(CPT1A):c.2061C>G (p.Ser687Arg)
|
rs1269472669
|
|
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter)
|
rs765161206
|
|
NM_001876.4(CPT1A):c.2128G>C (p.Gly710Arg)
|
|
|
NM_001876.4(CPT1A):c.2136del (p.Phe712fs)
|
|
|
NM_001876.4(CPT1A):c.2142+2T>C
|
|
|
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)
|
rs398123654
|
|
NM_001876.4(CPT1A):c.2259_2261dup (p.Leu754dup)
|
rs1594313040
|
|
NM_001876.4(CPT1A):c.242T>A (p.Leu81Ter)
|
|
|
NM_001876.4(CPT1A):c.281+1G>T
|
|
|
NM_001876.4(CPT1A):c.282-1G>A
|
rs1057517188
|
|
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)
|
rs80356774
|
|
NM_001876.4(CPT1A):c.331_334del (p.Gly111fs)
|
|
|
NM_001876.4(CPT1A):c.357_358insTTATC (p.Val120fs)
|
|
|
NM_001876.4(CPT1A):c.416_417insTCTTGGTG (p.Glu139fs)
|
|
|
NM_001876.4(CPT1A):c.449G>A (p.Trp150Ter)
|
|
|
NM_001876.4(CPT1A):c.453+2T>A
|
|
|
NM_001876.4(CPT1A):c.483del (p.Lys161fs)
|
|
|
NM_001876.4(CPT1A):c.483dup (p.Pro162fs)
|
|
|
NM_001876.4(CPT1A):c.619C>T (p.Gln207Ter)
|
|
|
NM_001876.4(CPT1A):c.693+1G>A
|
rs1055176086
|
|
NM_001876.4(CPT1A):c.693+1G>C
|
rs1055176086
|
|
NM_001876.4(CPT1A):c.693+1G>T
|
rs1055176086
|
|
NM_001876.4(CPT1A):c.694-2A>G
|
rs1555230518
|
|
NM_001876.4(CPT1A):c.702del (p.Trp235fs)
|
|
|
NM_001876.4(CPT1A):c.771+1G>A
|
|
|
NM_001876.4(CPT1A):c.771+1G>C
|
rs1555230494
|
|
NM_001876.4(CPT1A):c.772-1G>A
|
rs1555230326
|
|
NM_001876.4(CPT1A):c.772-2A>G
|
rs1057517245
|
|
NM_001876.4(CPT1A):c.783T>A (p.Tyr261Ter)
|
|
|
NM_001876.4(CPT1A):c.919C>T (p.Gln307Ter)
|
rs1057516396
|
|
NM_001876.4(CPT1A):c.941C>T (p.Thr314Ile)
|
rs80356776
|
|
NM_001876.4(CPT1A):c.967+1G>A
|
rs112498048
|
|
NM_001876.4(CPT1A):c.967+2T>C
|
rs1224226554
|
|