NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
|
rs104894294
|
0.00002
|
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)
|
rs104894300
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)
|
rs560525099
|
0.00001
|
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)
|
rs121909255
|
0.00001
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
NM_005055.5(RAPSN):c.531+1G>T
|
rs1421354085
|
0.00001
|
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)
|
rs1595903667
|
0.00001
|
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)
|
rs559933584
|
0.00001
|
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)
|
rs374604570
|
0.00001
|
NM_005055.5(RAPSN):c.-199C>G
|
rs886037842
|
|
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)
|
rs765096923
|
|
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)
|
rs759488854
|
|
NM_005055.5(RAPSN):c.1142dup (p.Cys382fs)
|
|
|
NM_005055.5(RAPSN):c.1174C>T (p.Gln392Ter)
|
|
|
NM_005055.5(RAPSN):c.11dup (p.Asp4fs)
|
rs1565689206
|
|
NM_005055.5(RAPSN):c.1207del (p.Arg403fs)
|
|
|
NM_005055.5(RAPSN):c.157del (p.His53fs)
|
|
|
NM_005055.5(RAPSN):c.192+2T>G
|
|
|
NM_005055.5(RAPSN):c.193-5_201del
|
|
|
NM_005055.5(RAPSN):c.210del (p.Ile70fs)
|
rs760999895
|
|
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
|
|
|
NM_005055.5(RAPSN):c.300_319del (p.His100fs)
|
rs2153311290
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
|
NM_005055.5(RAPSN):c.39del (p.Leu14fs)
|
|
|
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)
|
rs2153311231
|
|
NM_005055.5(RAPSN):c.422del (p.Lys141fs)
|
|
|
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)
|
rs142635726
|
|
NM_005055.5(RAPSN):c.46dup (p.Leu16fs)
|
rs2153311780
|
|
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
|
|
|
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)
|
rs786200904
|
|
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)
|
rs1595899478
|
|
NM_005055.5(RAPSN):c.690+1G>A
|
|
|
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)
|
rs2076368388
|
|
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
|
|
|
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
|
|
|
NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)
|
|
|
NM_005055.5(RAPSN):c.86G>A (p.Trp29Ter)
|
|
|
NM_005055.5(RAPSN):c.913-1G>C
|
|
|
NM_005055.5(RAPSN):c.966+1_966+2delinsAG
|
rs2153308170
|
|
NM_005055.5(RAPSN):c.967-2A>G
|
|
|
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
|
|
|
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)
|
rs201947904
|
|