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.1183C>G (p.Arg395Gly)
|
rs398123681
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
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.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.784+1G>A
|
rs763471771
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NC_000015.10:g.(?_40412971)_(40418283_?)del
|
|
|
NC_000015.10:g.(?_40413063)_(40414126_?)del
|
|
|
NC_000015.10:g.(?_40416058)_(40418283_?)del
|
|
|
NC_000015.9:g.(?_40702817)_(40708571_?)del
|
|
|
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)
|
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
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.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
NM_002225.5(IVD):c.122G>A (p.Gly41Glu)
|
rs2141290050
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.145-2A>T
|
|
|
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.149G>T (p.Arg50Leu)
|
|
|
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)
|
rs1555403211
|
|
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
|
rs1890589984
|
|
NM_002225.5(IVD):c.254G>A (p.Gly85Glu)
|
rs2141304438
|
|
NM_002225.5(IVD):c.263del (p.Gly88fs)
|
|
|
NM_002225.5(IVD):c.272del (p.Gly91fs)
|
|
|
NM_002225.5(IVD):c.287-2A>C
|
rs781340220
|
|
NM_002225.5(IVD):c.287-2A>G
|
rs781340220
|
|
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
|
|
|
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
|
rs145725101
|
|
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
|
|
|
NM_002225.5(IVD):c.394del (p.Leu132fs)
|
|
|
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
|
|
|
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
|
|
|
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
|
|
|
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)
|
rs907414760
|
|
NM_002225.5(IVD):c.457-1G>A
|
|
|
NM_002225.5(IVD):c.457-2A>C
|
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-2A>T
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.457C>G (p.Leu153Val)
|
rs763665120
|
|
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.466G>A (p.Gly156Ser)
|
rs1555404010
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.491T>C (p.Met164Thr)
|
|
|
NM_002225.5(IVD):c.526A>G (p.Met176Val)
|
|
|
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
|
|
|
NM_002225.5(IVD):c.551-1G>A
|
rs1057517043
|
|
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.640_641del (p.Ala214fs)
|
|
|
NM_002225.5(IVD):c.685_687+15del
|
rs2141332016
|
|
NM_002225.5(IVD):c.687+1G>C
|
rs2141332035
|
|
NM_002225.5(IVD):c.687+2T>C
|
rs2141332040
|
|
NM_002225.5(IVD):c.693dup (p.Pro232fs)
|
|
|
NM_002225.5(IVD):c.711dup (p.Lys238Ter)
|
rs1555404426
|
|
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
|
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.761_785-762del
|
|
|
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784
|
|
NM_002225.5(IVD):c.785-2A>T
|
|
|
NM_002225.5(IVD):c.785-9del
|
|
|
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
|
|
|
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)
|
|
|
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
NM_002225.5(IVD):c.878+2T>C
|
|
|
NM_002225.5(IVD):c.883A>T (p.Met295Leu)
|
rs1595786853
|
|
NM_002225.5(IVD):c.928del (p.Glu310fs)
|
|
|
NM_002225.5(IVD):c.940C>T (p.Gln314Ter)
|
|
|
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
|
|
|
NM_002225.5(IVD):c.960+1G>A
|
|
|
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475
|
|
NM_002225.5(IVD):c.961-1G>T
|
rs1555405067
|
|
NM_002225.5(IVD):c.961-2A>G
|
rs1057517056
|
|
NM_002225.5(IVD):c.961-2A>T
|
rs1057517056
|
|
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
|
rs1891639284
|
|
NM_002225.5(IVD):c.974del (p.Lys325fs)
|
rs1555405070
|
|
NM_002225.5(IVD):c.977T>C (p.Met326Thr)
|
rs1891640609
|
|
NM_002225.5(IVD):c.986T>C (p.Met329Thr)
|
|
|
NM_002225.5(IVD):c.994del (p.Arg332fs)
|
rs1555405080
|
|