NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
NC_000023.10:g.(?_153640181)_(153641904_?)del
|
|
|
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)
|
rs397515738
|
|
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)
|
rs397515740
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)
|
rs727504431
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000320.3(QDPR):c.472C>T (p.His158Tyr)
|
rs750201480
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser)
|
rs781627051
|
|
NM_001142800.2(EYS):c.8678del (p.Asn2893fs)
|
rs1554163929
|
|
NM_001370658.1(BTD):c.-17+1G>A
|
rs1057516440
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_003322.6(TULP1):c.855dup (p.Val286fs)
|
rs1554125752
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
NM_014362.4(HIBCH):c.852del (p.Leu284fs)
|
rs1131692017
|
|