NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg)
|
rs765794816
|
0.00002
|
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg)
|
rs866841518
|
0.00002
|
NM_005476.7(GNE):c.127G>A (p.Val43Ile)
|
rs1223454836
|
0.00001
|
NM_005476.7(GNE):c.1354A>G (p.Met452Val)
|
rs746051210
|
0.00001
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)
|
rs148523065
|
0.00001
|
NM_005476.7(GNE):c.466T>C (p.Tyr156His)
|
rs794727505
|
0.00001
|
NM_001128227.2(GNE):c.-60_-59delAA
|
rs751222162
|
|
NM_001128227.2(GNE):c.-97T>G
|
rs757093701
|
|
NM_001128227.3(GNE):c.3G>A (p.Met1Ile)
|
rs1554668704
|
|
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys)
|
rs1403279875
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs)
|
rs1554664095
|
|
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn)
|
rs1554660095
|
|
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)
|
rs1554660090
|
|
NM_005476.7(GNE):c.1099G>A (p.Val367Ile)
|
rs1554659769
|
|
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg)
|
rs1313840587
|
|
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys)
|
rs1447770049
|
|
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu)
|
rs1414079876
|
|
NM_005476.7(GNE):c.1567C>A (p.Leu523Met)
|
rs1554658905
|
|
NM_005476.7(GNE):c.1567C>G (p.Leu523Val)
|
rs1554658905
|
|
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)
|
rs986773986
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.2088GGT[1] (p.Val698del)
|
rs1554657956
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.2T>C (p.Met1Thr)
|
rs1554664086
|
|
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del)
|
rs1554661574
|
|
NM_005476.7(GNE):c.6GAA[1] (p.Lys3del)
|
rs1554664082
|
|
NM_005476.7(GNE):c.748C>A (p.Leu250Met)
|
rs886042585
|
|
NM_005476.7(GNE):c.769+3dup
|
rs756817842
|
|
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)
|
rs755743750
|
|
NM_005476.7(GNE):c.992T>G (p.Val331Gly)
|
rs1554660119
|
|