|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
|
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)
|
rs769261274
|
0.00004
|
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
|
NM_002225.5(IVD):c.539C>T (p.Ala180Val)
|
rs559732306
|
0.00001
|
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
0.00001
|
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
|
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)
|
|
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
|
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
|
NM_002225.5(IVD):c.1066del
|
|
|
|
NM_002225.5(IVD):c.1087dup (p.Tyr363fs)
|
|
|
|
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)
|
rs2141289961
|
|
|
NM_002225.5(IVD):c.1140del (p.Gly381fs)
|
|
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
|
NM_002225.5(IVD):c.1186G>C (p.Asp396His)
|
|
|
|
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)
|
rs755693286
|
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
|
NM_002225.5(IVD):c.144+1G>C
|
|
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
|
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
|
rs540375168
|
|
|
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
|
|
|
|
NM_002225.5(IVD):c.340G>C (p.Glu114Gln)
|
|
|
|
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
|
rs145725101
|
|
|
NM_002225.5(IVD):c.394del (p.Leu132fs)
|
|
|
|
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
|
|
|
|
NM_002225.5(IVD):c.457-2A>C
|
|
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
|
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)
|
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
|
|
|
NM_002225.5(IVD):c.526A>G (p.Met176Val)
|
|
|
|
NM_002225.5(IVD):c.581del (p.Phe194fs)
|
|
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
|
NM_002225.5(IVD):c.631A>G (p.Thr211Ala)
|
|
|
|
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
|
|
|
|
NM_002225.5(IVD):c.650del (p.Pro217fs)
|
rs1364046355
|
|
|
NM_002225.5(IVD):c.667dup (p.Thr223fs)
|
|
|
|
NM_002225.5(IVD):c.761_785-762del
|
|
|
|
NM_002225.5(IVD):c.810del (p.Asn270fs)
|
|
|
|
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)
|
|
|
|
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
|
|
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
|
NM_002225.5(IVD):c.878+2T>C
|
|
|
|
NM_002225.5(IVD):c.928del (p.Glu310fs)
|
|
|
|
NM_002225.5(IVD):c.960+1G>A
|
|
|
|
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475
|
|
|
NM_002225.5(IVD):c.986T>C (p.Met329Thr)
|
|
|