NM_025099.6(CTC1):c.680C>T (p.Ala227Val)
|
rs199473673
|
0.00011
|
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)
|
rs202138550
|
0.00005
|
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter)
|
rs1053748363
|
0.00004
|
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
|
rs761922947
|
0.00003
|
NM_025099.6(CTC1):c.1360del (p.Glu454fs)
|
rs748852501
|
0.00002
|
NM_025099.6(CTC1):c.2758+1G>T
|
rs200609323
|
0.00002
|
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)
|
rs764019241
|
0.00001
|
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter)
|
rs202213253
|
0.00001
|
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)
|
rs952398755
|
0.00001
|
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter)
|
rs1987206904
|
0.00001
|
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)
|
rs767991627
|
0.00001
|
NM_025099.6(CTC1):c.440del (p.Ile147fs)
|
rs1196342305
|
0.00001
|
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter)
|
rs1169567839
|
0.00001
|
NM_025099.6(CTC1):c.775G>A (p.Val259Met)
|
rs387907080
|
0.00001
|
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)
|
rs397514660
|
0.00001
|
NC_000017.10:g.(?_8131498)_(8151354_?)del
|
|
|
NC_000017.10:g.(?_8146283)_(8146486_?)del
|
|
|
NM_025099.6(CTC1):c.1042del (p.Ser348fs)
|
rs1290803035
|
|
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs)
|
rs773120259
|
|
NM_025099.6(CTC1):c.1147del (p.Ala384fs)
|
|
|
NM_025099.6(CTC1):c.1156C>T (p.Gln386Ter)
|
rs1203574273
|
|
NM_025099.6(CTC1):c.1190dup (p.Gly398fs)
|
|
|
NM_025099.6(CTC1):c.1213del (p.Asp405fs)
|
rs1444923772
|
|
NM_025099.6(CTC1):c.122del (p.Leu41fs)
|
|
|
NM_025099.6(CTC1):c.146_149del (p.Val49fs)
|
|
|
NM_025099.6(CTC1):c.1583del (p.Ile528fs)
|
|
|
NM_025099.6(CTC1):c.1617+5G>T
|
|
|
NM_025099.6(CTC1):c.1623_1624del (p.Arg542fs)
|
|
|
NM_025099.6(CTC1):c.1668_1671del (p.Glu557fs)
|
rs1237260493
|
|
NM_025099.6(CTC1):c.1746del (p.Ser583fs)
|
|
|
NM_025099.6(CTC1):c.1774_1784dup (p.Cys596fs)
|
|
|
NM_025099.6(CTC1):c.1785_1786del (p.Cys596fs)
|
|
|
NM_025099.6(CTC1):c.1788_1791del (p.Leu597fs)
|
|
|
NM_025099.6(CTC1):c.1814_1818del (p.Ala605fs)
|
|
|
NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter)
|
rs2151512520
|
|
NM_025099.6(CTC1):c.1934dup (p.Arg646fs)
|
|
|
NM_025099.6(CTC1):c.2071C>T (p.Gln691Ter)
|
|
|
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter)
|
rs1201426650
|
|
NM_025099.6(CTC1):c.2291_2292del (p.Tyr764fs)
|
rs2151509277
|
|
NM_025099.6(CTC1):c.2322del (p.Arg775fs)
|
|
|
NM_025099.6(CTC1):c.2472del (p.Ala825fs)
|
|
|
NM_025099.6(CTC1):c.248_251dup (p.His84fs)
|
rs745467709
|
|
NM_025099.6(CTC1):c.2561_2573del (p.Val854fs)
|
rs1987208048
|
|
NM_025099.6(CTC1):c.2605C>T (p.Gln869Ter)
|
|
|
NM_025099.6(CTC1):c.2770dup (p.Ala924fs)
|
|
|
NM_025099.6(CTC1):c.2831del (p.Pro944fs)
|
rs199473677
|
|
NM_025099.6(CTC1):c.2831dup (p.His945fs)
|
rs199473677
|
|
NM_025099.6(CTC1):c.2880dup (p.Leu961fs)
|
rs2151503544
|
|
NM_025099.6(CTC1):c.2888del (p.Pro963fs)
|
rs1987105095
|
|
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)
|
rs199473679
|
|
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)
|
rs62637613
|
|
NM_025099.6(CTC1):c.2978_2981dup (p.Leu995fs)
|
rs2151502269
|
|
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
|
|
|
NM_025099.6(CTC1):c.303_316del (p.Asn102fs)
|
rs2151531785
|
|
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter)
|
rs1567599296
|
|
NM_025099.6(CTC1):c.3099dup (p.Val1034fs)
|
rs1597374251
|
|
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)
|
rs372031509
|
|
NM_025099.6(CTC1):c.341del (p.Leu113_Leu114insTer)
|
|
|
NM_025099.6(CTC1):c.3437del (p.Cys1146fs)
|
|
|
NM_025099.6(CTC1):c.409_410del (p.Arg136_Asp137insTer)
|
|
|
NM_025099.6(CTC1):c.458G>A (p.Trp153Ter)
|
rs2151530716
|
|
NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)
|
|
|
NM_025099.6(CTC1):c.58C>T (p.Gln20Ter)
|
|
|
NM_025099.6(CTC1):c.591del (p.Val198fs)
|
rs1567613669
|
|
NM_025099.6(CTC1):c.694C>T (p.Arg232Ter)
|
|
|
NM_025099.6(CTC1):c.723_724del (p.Lys242fs)
|
|
|
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)
|
rs199473674
|
|
NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)
|
|
|
NM_025099.6(CTC1):c.812G>A (p.Trp271Ter)
|
rs2151524168
|
|
NM_025099.6(CTC1):c.880C>T (p.Gln294Ter)
|
rs2151523798
|
|
NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)
|
|
|
NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)
|
|
|