NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_000096.4(CP):c.1049C>A (p.Ala350Asp)
|
rs386134127
|
0.00003
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000096.4(CP):c.1209-2A>G
|
rs386134137
|
0.00001
|
NM_000096.4(CP):c.2689_2690del (p.Leu897fs)
|
rs386134153
|
0.00001
|
NM_000096.4(CP):c.2701C>T (p.Arg901Ter)
|
rs386134156
|
0.00001
|
NM_000096.4(CP):c.395-1G>A
|
rs386134135
|
0.00001
|
NM_000096.4(CP):c.548T>C (p.Ile183Thr)
|
rs386134123
|
0.00001
|
NM_000096.4(CP):c.643C>T (p.Arg215Ter)
|
rs386134155
|
0.00001
|
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs)
|
rs386134138
|
|
NM_000096.4(CP):c.1123T>C (p.Tyr375His)
|
rs386134128
|
|
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer)
|
rs386134144
|
|
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs)
|
rs386134145
|
|
NM_000096.4(CP):c.146+1G>A
|
rs386134134
|
|
NM_000096.4(CP):c.1865-1G>A
|
rs386134139
|
|
NM_000096.4(CP):c.1874G>A (p.Gly625Glu)
|
rs386134129
|
|
NM_000096.4(CP):c.1918del (p.Asp640fs)
|
rs386134146
|
|
NM_000096.4(CP):c.2066del (p.Pro689fs)
|
rs386134147
|
|
NM_000096.4(CP):c.2068del (p.Asp690fs)
|
rs386134148
|
|
NM_000096.4(CP):c.2131C>A (p.Gln711Lys)
|
rs386134130
|
|
NM_000096.4(CP):c.2185del (p.Leu729fs)
|
rs587777922
|
|
NM_000096.4(CP):c.2389del (p.Glu797fs)
|
rs386134149
|
|
NM_000096.4(CP):c.2482del (p.Ala828fs)
|
rs386134150
|
|
NM_000096.4(CP):c.2511dup (p.Gly838fs)
|
rs386134151
|
|
NM_000096.4(CP):c.2554+1G>T
|
rs386134140
|
|
NM_000096.4(CP):c.2603del (p.Gly868fs)
|
rs386134152
|
|
NM_000096.4(CP):c.2630G>A (p.Trp877Ter)
|
rs121909579
|
|
NM_000096.4(CP):c.2675G>A (p.Gly892Glu)
|
rs386134131
|
|
NM_000096.4(CP):c.2879-1G>A
|
rs386134141
|
|
NM_000096.4(CP):c.2917dup (p.Thr973fs)
|
rs386134154
|
|
NM_000096.4(CP):c.2953A>G (p.Met985Val)
|
rs386134132
|
|
NM_000096.4(CP):c.3019-1G>A
|
rs386134142
|
|
NM_000096.4(CP):c.493C>G (p.Gln165Glu)
|
rs386134122
|
|
NM_000096.4(CP):c.587C>G (p.Pro196Arg)
|
rs386134124
|
|
NM_000096.4(CP):c.606dup (p.Asp203fs)
|
rs386134143
|
|
NM_000096.4(CP):c.607+1G>A
|
rs386134136
|
|
NM_000096.4(CP):c.650T>C (p.Phe217Ser)
|
rs386134125
|
|
NM_000096.4(CP):c.82A>T (p.Ile28Phe)
|
rs386134121
|
|
NM_000096.4(CP):c.848G>C (p.Trp283Ser)
|
rs386134126
|
|