NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
|
rs766242199
|
0.00001
|
NM_001040716.2(PC):c.1023-1G>A
|
rs2135917561
|
|
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)
|
rs2135917452
|
|
NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs)
|
rs2135917229
|
|
NM_001040716.2(PC):c.1084del (p.Leu362fs)
|
rs2135917031
|
|
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter)
|
rs1310884700
|
|
NM_001040716.2(PC):c.1168dup (p.Asp390fs)
|
rs1946484568
|
|
NM_001040716.2(PC):c.1333del (p.Arg445fs)
|
|
|
NM_001040716.2(PC):c.1339del (p.Ala448fs)
|
|
|
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter)
|
rs2135903791
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
|
|
|
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
|
|
|
NM_001040716.2(PC):c.1465del (p.Gln489fs)
|
|
|
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
|
|
|
NM_001040716.2(PC):c.1702_1706del (p.Thr568fs)
|
rs2135814786
|
|
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
|
rs28940589
|
|
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter)
|
rs2135809396
|
|
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
|
|
|
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)
|
rs113994146
|
|
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs)
|
rs2135803326
|
|
NM_001040716.2(PC):c.2253del (p.Cys752fs)
|
|
|
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs)
|
rs2135800153
|
|
NM_001040716.2(PC):c.2473+2_2473+5del
|
|
|
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)
|
rs756355930
|
|
NM_001040716.2(PC):c.2581del (p.Val861fs)
|
rs2135795582
|
|
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
|
|
|
NM_001040716.2(PC):c.2746dup (p.Asp916fs)
|
|
|
NM_001040716.2(PC):c.2874dup (p.Phe959fs)
|
|
|
NM_001040716.2(PC):c.2948dup (p.Pro984fs)
|
|
|
NM_001040716.2(PC):c.2953del (p.Leu985fs)
|
rs2135790424
|
|
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
|
|
|
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
|
|
|
NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
|
|
|
NM_001040716.2(PC):c.3102dup (p.Thr1035fs)
|
rs2135789146
|
|
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
|
|
|
NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
|
|
|
NM_001040716.2(PC):c.3164del (p.Gly1055fs)
|
rs2135786710
|
|
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
|
|
|
NM_001040716.2(PC):c.3190del (p.Ala1064fs)
|
rs2135786512
|
|
NM_001040716.2(PC):c.321+1G>T
|
rs2135941937
|
|
NM_001040716.2(PC):c.3288+1G>A
|
|
|
NM_001040716.2(PC):c.3288+1G>T
|
rs2135785399
|
|
NM_001040716.2(PC):c.3288+2T>C
|
rs2135785388
|
|
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
|
|
|
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)
|
rs1555013840
|
|
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
|
|
|
NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
|
|
|
NM_001040716.2(PC):c.3387del (p.Lys1130fs)
|
rs2135783409
|
|
NM_001040716.2(PC):c.364del (p.Ser122fs)
|
|
|
NM_001040716.2(PC):c.366dup (p.Glu123Ter)
|
rs2135940752
|
|
NM_001040716.2(PC):c.372_375del (p.Ala125fs)
|
rs1565245427
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
|
|
|
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
|
|
|
NM_001040716.2(PC):c.908del (p.Gly303fs)
|
|
|
NM_001040716.2(PC):c.913G>T (p.Glu305Ter)
|
rs1487446205
|
|