NM_016335.6(PRODH):c.554G>A (p.Trp185Ter)
|
rs11913840
|
0.05253
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)
|
rs192912733
|
0.00034
|
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg)
|
rs201553871
|
0.00008
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_001379270.1(CNGA1):c.253del (p.Leu85fs)
|
rs749012133
|
0.00004
|
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)
|
rs121909124
|
0.00004
|
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)
|
rs187962930
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001902.6(CTH):c.793C>T (p.Arg265Ter)
|
rs773107808
|
0.00003
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile)
|
rs752738349
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_014270.5(SLC7A9):c.88-2A>G
|
rs1085307095
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter)
|
rs747656257
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_001379270.1(CNGA1):c.179del (p.Gly60fs)
|
rs527236058
|
|
NM_005271.5(GLUD1):c.446-7CCA[4]
|
rs753723749
|
|
NM_006269.2(RP1):c.4196del (p.Cys1399fs)
|
rs762951570
|
|
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)
|
rs80338719
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_054012.4(ASS1):c.689G>C (p.Gly230Ala)
|
rs1085307056
|
|
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)
|
rs1085307058
|
|