NM_000587.4(C7):c.1341G>A (p.Glu447=)
|
rs150696042
|
0.00183
|
NM_000587.4(C7):c.1258A>C (p.Lys420Gln)
|
rs3792646
|
0.00103
|
NM_000587.4(C7):c.405del (p.Asn136fs)
|
rs139491301
|
0.00088
|
NM_000587.4(C7):c.1852C>T (p.Arg618Trp)
|
rs202140226
|
0.00073
|
NM_000587.4(C7):c.659G>A (p.Arg220Gln)
|
rs369349760
|
0.00017
|
NM_000587.4(C7):c.605A>G (p.Asn202Ser)
|
rs199587630
|
0.00016
|
NM_000587.4(C7):c.1451C>T (p.Ala484Val)
|
rs369097905
|
0.00014
|
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)
|
rs121964921
|
0.00006
|
NM_000587.4(C7):c.1244A>G (p.Gln415Arg)
|
rs370190257
|
0.00004
|
NM_000587.4(C7):c.63-1G>A
|
rs1022194067
|
0.00004
|
NM_000587.4(C7):c.1411A>T (p.Thr471Ser)
|
rs371379073
|
0.00003
|
NM_000587.4(C7):c.281-1G>T
|
rs531103546
|
0.00001
|
C7, 11-BP DEL, NT631
|
|
|
C7, EX7-8DEL
|
|
|
NM_000587.4(C7):c.*96TCT[1]
|
|
|
NM_000587.4(C7):c.1314del (p.Lys438fs)
|
rs774370086
|
|
NM_000587.4(C7):c.1458T>A (p.Cys486Ter)
|
rs121964922
|
|
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)
|
rs121964920
|
|
NM_000587.4(C7):c.1924_1925del (p.His643fs)
|
rs764871530
|
|
NM_000587.4(C7):c.2125C>A (p.Gln709Lys)
|
|
|
NM_000587.4(C7):c.2140_2141del (p.Val714fs)
|
rs1467298230
|
|
NM_000587.4(C7):c.2184T>A (p.Cys728Ter)
|
rs387906509
|
|
NM_000587.4(C7):c.2350+1del
|
rs779723422
|
|
NM_000587.4(C7):c.317del (p.Asp106fs)
|
rs1579848888
|
|
NM_000587.4(C7):c.614G>A (p.Trp205Ter)
|
|
|
NM_000587.4(C7):c.633_643del (p.Ser212fs)
|
rs770367814
|
|