NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)
|
rs121908923
|
0.00005
|
NM_000080.4(CHRNE):c.971del (p.Ile324fs)
|
rs879255562
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000080.4(CHRNE):c.803-2A>G
|
rs1320610655
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)
|
rs751097758
|
0.00002
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)
|
rs139574075
|
0.00002
|
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)
|
rs80338784
|
0.00001
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
NM_002334.4(LRP4):c.316+1G>A
|
rs780336679
|
0.00001
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
NM_005677.4(COLQ):c.1195+1G>A
|
rs755782087
|
0.00001
|
NM_005677.4(COLQ):c.219+1G>C
|
rs149020371
|
0.00001
|
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter)
|
rs369251527
|
0.00001
|
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter)
|
rs2151098928
|
|
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs)
|
rs2151094729
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
NM_000080.4(CHRNE):c.1327del
|
rs763258280
|
|
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)
|
rs773526895
|
|
NM_000080.4(CHRNE):c.501-10_504dup
|
rs768552387
|
|
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
|
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)
|
rs121908552
|
|
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)
|
rs80338788
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)
|
rs527236150
|
|
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)
|
rs80338962
|
|
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)
|
rs786205885
|
|
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)
|
rs759488854
|
|
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)
|
rs1555142142
|
|
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)
|
rs749287203
|
|
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)
|
rs201947904
|
|
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter)
|
rs104893734
|
|
NM_014231.5(VAMP1):c.340+2T>G
|
rs878854975
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
NM_173660.5(DOK7):c.54+25_55-38del
|
rs769850502
|
|
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
|
rs118203995
|
|