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.550+1G>A
|
rs377147994
|
0.00007
|
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.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.1108C>T (p.Gln370Ter)
|
rs368705240
|
0.00001
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
NM_002225.5(IVD):c.1138+1G>A
|
rs1193235415
|
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.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002225.5(IVD):c.1206del (p.Ile402fs)
|
rs1595797766
|
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.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.(?_40416068)_(40418273_?)del
|
|
|
NC_000015.9:g.(?_40698000)_(40700209_?)del
|
|
|
NC_000015.9:g.(?_40698010)_(40698182_?)del
|
|
|
NC_000015.9:g.(?_40698010)_(40710472_?)del
|
|
|
NC_000015.9:g.(?_40699827)_(40710472_?)del
|
|
|
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
|
rs776608445
|
|
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.1071_1072del (p.Ala358fs)
|
rs1891674455
|
|
NM_002225.5(IVD):c.1083del (p.Leu362fs)
|
|
|
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)
|
rs2141289961
|
|
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.1204_1210del (p.Ile402fs)
|
|
|
NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer)
|
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
NM_002225.5(IVD):c.125T>C (p.Leu42Pro)
|
rs121434284
|
|
NM_002225.5(IVD):c.127dup (p.Ser43fs)
|
|
|
NM_002225.5(IVD):c.144+1G>C
|
|
|
NM_002225.5(IVD):c.145_234del (p.Leu49_Arg78del)
|
|
|
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.150del (p.Gln51fs)
|
rs2141301396
|
|
NM_002225.5(IVD):c.163A>T (p.Lys55Ter)
|
|
|
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
|
rs199865931
|
|
NM_002225.5(IVD):c.225del (p.Asn76fs)
|
rs2141302044
|
|
NM_002225.5(IVD):c.235-1G>A
|
|
|
NM_002225.5(IVD):c.242G>A (p.Trp81Ter)
|
rs767782379
|
|
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
|
rs540375168
|
|
NM_002225.5(IVD):c.259del (p.Leu87fs)
|
|
|
NM_002225.5(IVD):c.275_285del (p.Ile92fs)
|
|
|
NM_002225.5(IVD):c.285del (p.Val96fs)
|
|
|
NM_002225.5(IVD):c.287-2A>G
|
rs781340220
|
|
NM_002225.5(IVD):c.340del (p.Glu114fs)
|
|
|
NM_002225.5(IVD):c.456+22_510delinsGTTG
|
rs1555403942
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
|
|
NM_002225.5(IVD):c.541G>T (p.Glu181Ter)
|
rs2141329244
|
|
NM_002225.5(IVD):c.585G>A (p.Trp195Ter)
|
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
|
rs1890343709
|
|
NM_002225.5(IVD):c.650del (p.Pro217fs)
|
rs1364046355
|
|
NM_002225.5(IVD):c.667dup (p.Thr223fs)
|
|
|
NM_002225.5(IVD):c.669dup (p.Ala224fs)
|
|
|
NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter)
|
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784
|
|
NM_002225.5(IVD):c.838_841del (p.Leu280fs)
|
rs2141351682
|
|
NM_002225.5(IVD):c.870del (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475
|
|
NM_002225.5(IVD):c.985_986del (p.Met329fs)
|
|
|
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
rs745464766
|
|