NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)
|
rs201230446
|
0.00054
|
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)
|
rs201947120
|
0.00016
|
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg)
|
rs267606766
|
0.00006
|
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp)
|
rs267606767
|
0.00004
|
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys)
|
rs267606769
|
0.00003
|
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)
|
rs267606768
|
0.00001
|
NM_022458.4(LMBR1):c.423+4915C>T
|
rs587779752
|
0.00001
|
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu)
|
rs267606765
|
|
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala)
|
rs267606767
|
|
NM_001361.5(DHODH):c.611del (p.Leu204fs)
|
rs1215488320
|
|
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs)
|
rs879253725
|
|
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg)
|
rs387906879
|
|
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter)
|
rs879253726
|
|
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter)
|
rs879253727
|
|
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)
|
rs387906878
|
|
NM_004247.4(EFTUD2):c.2823+1del
|
rs879253728
|
|
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg)
|
rs397515431
|
|
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)
|
rs387906877
|
|
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter)
|
rs397515324
|
|
NM_005850.5(SF3B4):c.1147del (p.His383fs)
|
rs387907186
|
|
NM_005850.5(SF3B4):c.1147dup (p.His383fs)
|
rs387907186
|
|
NM_005850.5(SF3B4):c.1A>G (p.Met1Val)
|
rs387907185
|
|
NM_005850.5(SF3B4):c.913+1G>A
|
rs797045125
|
|
NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln)
|
rs794729674
|
|
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs)
|
rs875989814
|
|
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del)
|
rs1064794956
|
|
NM_015425.6(POLR1A):c.4685G>T (p.Cys1562Phe)
|
rs1064795108
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_022458.4(LMBR1):c.423+4618C>G
|
rs606231146
|
|
NM_022458.4(LMBR1):c.423+4808T>C
|
rs606231152
|
|
NM_022458.4(LMBR1):c.423+4810G>A
|
rs606231230
|
|
NM_022458.4(LMBR1):c.423+4818A>T
|
rs606231148
|
|
NM_022458.4(LMBR1):c.423+4842T>C
|
rs606231149
|
|
NM_022458.4(LMBR1):c.423+4847T>G
|
rs606231231
|
|
NM_022458.4(LMBR1):c.423+4909C>T
|
rs606231153
|
|
NM_022458.4(LMBR1):c.423+5134C>G
|
rs606231151
|
|
NM_022458.4(LMBR1):c.423+5252A>G
|
rs606231150
|
|
NM_147127.5(EVC2):c.3793del (p.Leu1265fs)
|
rs587776568
|
|
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)
|
rs1577093161
|
|
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)
|
rs1577093161
|
|
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter)
|
rs1560121645
|
|
ZRS, 295T-C
|
|
|
ZRS, 297G-A
|
|
|
ZRS, 328C-G
|
|
|
ZRS, 329T-C
|
|
|
ZRS, 334T-G
|
|
|
ZRS, 396C-T
|
|
|
ZRS, 621C-G
|
|
|
ZRS, 739A-G
|
|
|