NM_000330.4(RS1):c.330T>C (p.Cys110=)
|
rs1801161
|
0.06874
|
NM_000330.4(RS1):c.522+5G>A
|
rs200074383
|
0.00004
|
NM_000330.4(RS1):c.325G>C (p.Gly109Arg)
|
rs104894934
|
0.00002
|
NM_000330.4(RS1):c.194del (p.Tyr65fs)
|
rs62645893
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000330.4(RS1):c.221G>T (p.Gly74Val)
|
rs104894933
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.416del (p.Gln139fs)
|
rs61752155
|
0.00001
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
NM_000330.4(RS1):c.554C>T (p.Thr185Met)
|
rs61753173
|
0.00001
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
NM_000330.4(RS1):c.655T>G (p.Cys219Gly)
|
rs281865369
|
0.00001
|
NM_000330.4(RS1):c.185-1G>C
|
rs281865344
|
|
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys)
|
rs62645892
|
|
NM_000330.4(RS1):c.208G>C (p.Gly70Arg)
|
rs62645894
|
|
NM_000330.4(RS1):c.209G>A (p.Gly70Asp)
|
rs62645895
|
|
NM_000330.4(RS1):c.214G>C (p.Glu72Gln)
|
rs104894928
|
|
NM_000330.4(RS1):c.216G>C (p.Glu72Asp)
|
rs104894932
|
|
NM_000330.4(RS1):c.217T>C (p.Ser73Pro)
|
rs62645899
|
|
NM_000330.4(RS1):c.219del (p.Glu75fs)
|
rs62645900
|
|
NM_000330.4(RS1):c.223G>T (p.Glu75Ter)
|
rs62641252
|
|
NM_000330.4(RS1):c.242T>A (p.Ile81Asn)
|
rs61750457
|
|
NM_000330.4(RS1):c.253_255del (p.Asn85del)
|
rs61750458
|
|
NM_000330.4(RS1):c.262C>T (p.Gln88Ter)
|
rs61750459
|
|
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)
|
rs61752060
|
|
NM_000330.4(RS1):c.267T>A (p.Tyr89Ter)
|
rs61752061
|
|
NM_000330.4(RS1):c.276G>C (p.Trp92Cys)
|
rs61752062
|
|
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)
|
rs61752063
|
|
NM_000330.4(RS1):c.288G>A (p.Trp96Ter)
|
rs61752064
|
|
NM_000330.4(RS1):c.293C>A (p.Ala98Glu)
|
rs61752065
|
|
NM_000330.4(RS1):c.301G>C (p.Ala101Pro)
|
rs61752066
|
|
NM_000330.4(RS1):c.301del (p.Ala101fs)
|
rs63465862
|
|
NM_000330.4(RS1):c.308T>G (p.Leu103Arg)
|
rs61752069
|
|
NM_000330.4(RS1):c.312C>G (p.Asn104Lys)
|
rs61752070
|
|
NM_000330.4(RS1):c.318dup (p.Gly107fs)
|
rs61752071
|
|
NM_000330.4(RS1):c.323T>G (p.Phe108Cys)
|
rs61752072
|
|
NM_000330.4(RS1):c.325G>T (p.Gly109Trp)
|
rs104894934
|
|
NM_000330.4(RS1):c.326+1G>A
|
rs281865346
|
|
NM_000330.4(RS1):c.326G>A (p.Gly109Glu)
|
rs281865345
|
|
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)
|
rs61752075
|
|
NM_000330.4(RS1):c.330T>A (p.Cys110Ter)
|
rs1801161
|
|
NM_000330.4(RS1):c.336G>C (p.Trp112Cys)
|
rs61752144
|
|
NM_000330.4(RS1):c.336G>T (p.Trp112Cys)
|
rs61752144
|
|
NM_000330.4(RS1):c.337C>T (p.Leu113Phe)
|
rs61752145
|
|
NM_000330.4(RS1):c.349_350insT (p.Gln117fs)
|
rs61752146
|
|
NM_000330.4(RS1):c.366G>C (p.Trp122Cys)
|
rs61752147
|
|
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer)
|
rs61752148
|
|
NM_000330.4(RS1):c.380T>C (p.Leu127Pro)
|
rs61752149
|
|
NM_000330.4(RS1):c.392_393del (p.Lys131fs)
|
rs281865347
|
|
NM_000330.4(RS1):c.397A>T (p.Ile133Phe)
|
rs61752151
|
|
NM_000330.4(RS1):c.404G>T (p.Gly135Val)
|
rs61752152
|
|
NM_000330.4(RS1):c.407T>C (p.Ile136Thr)
|
rs61752153
|
|
NM_000330.4(RS1):c.412A>G (p.Thr138Ala)
|
rs61752154
|
|
NM_000330.4(RS1):c.418G>A (p.Gly140Arg)
|
rs61752156
|
|
NM_000330.4(RS1):c.419G>A (p.Gly140Glu)
|
rs61752157
|
|
NM_000330.4(RS1):c.421C>G (p.Arg141Gly)
|
rs61752158
|
|
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)
|
rs61752158
|
|
NM_000330.4(RS1):c.422G>A (p.Arg141His)
|
rs61752159
|
|
NM_000330.4(RS1):c.426T>C (p.Cys142=)
|
rs1800001
|
|
NM_000330.4(RS1):c.426T>G (p.Cys142Trp)
|
rs1800001
|
|
NM_000330.4(RS1):c.426_427del (p.Cys142_Asp143delinsTer)
|
rs61753160
|
|
NM_000330.4(RS1):c.428A>T (p.Asp143Val)
|
rs61753161
|
|
NM_000330.4(RS1):c.436G>A (p.Glu146Lys)
|
rs61753162
|
|
NM_000330.4(RS1):c.438G>C (p.Glu146Asp)
|
rs61753163
|
|
NM_000330.4(RS1):c.460C>T (p.Gln154Ter)
|
rs61753164
|
|
NM_000330.4(RS1):c.464A>G (p.Tyr155Cys)
|
rs61753165
|
|
NM_000330.4(RS1):c.472G>A (p.Asp158Asn)
|
rs1800002
|
|
NM_000330.4(RS1):c.489G>A (p.Trp163Ter)
|
rs61753166
|
|
NM_000330.4(RS1):c.489G>T (p.Trp163Cys)
|
rs61753166
|
|
NM_000330.4(RS1):c.499A>T (p.Lys167Ter)
|
rs61753167
|
|
NM_000330.4(RS1):c.501G>C (p.Lys167Asn)
|
rs61753168
|
|
NM_000330.4(RS1):c.522+1G>A
|
rs281865348
|
|
NM_000330.4(RS1):c.522+1G>T
|
rs281865348
|
|
NM_000330.4(RS1):c.523-2A>G
|
rs281865349
|
|
NM_000330.4(RS1):c.533G>A (p.Gly178Asp)
|
rs61753169
|
|
NM_000330.4(RS1):c.535A>G (p.Asn179Asp)
|
rs61753170
|
|
NM_000330.4(RS1):c.548_549dup (p.Ser184fs)
|
rs61753172
|
|
NM_000330.4(RS1):c.574C>A (p.Pro192Thr)
|
rs61753174
|
|
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)
|
rs61753174
|
|
NM_000330.4(RS1):c.575C>G (p.Pro192Arg)
|
rs61753175
|
|
NM_000330.4(RS1):c.576_577insT (p.Pro193fs)
|
rs281865350
|
|
NM_000330.4(RS1):c.577C>T (p.Pro193Ser)
|
rs281865351
|
|
NM_000330.4(RS1):c.578C>T (p.Pro193Leu)
|
rs281865352
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)
|
rs281865354
|
|
NM_000330.4(RS1):c.590G>C (p.Arg197Pro)
|
rs281865355
|
|
NM_000330.4(RS1):c.596T>C (p.Ile199Thr)
|
rs281865356
|
|
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)
|
rs281865357
|
|
NM_000330.4(RS1):c.599G>A (p.Arg200His)
|
rs281865358
|
|
NM_000330.4(RS1):c.606C>T (p.Ile202=)
|
rs1800003
|
|
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
|
rs104894930
|
|
NM_000330.4(RS1):c.618G>A (p.Trp206Ter)
|
rs281865359
|
|
NM_000330.4(RS1):c.621C>G (p.His207Gln)
|
rs281865360
|
|
NM_000330.4(RS1):c.625C>G (p.Arg209Gly)
|
rs281865361
|
|
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)
|
rs281865361
|
|
NM_000330.4(RS1):c.626G>A (p.Arg209His)
|
rs281865362
|
|
NM_000330.4(RS1):c.631G>A (p.Ala211Thr)
|
rs281865363
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000330.4(RS1):c.638G>A (p.Arg213Gln)
|
rs281865364
|
|
NM_000330.4(RS1):c.639del (p.Met214fs)
|
rs281865366
|
|
NM_000330.4(RS1):c.643G>A (p.Glu215Lys)
|
rs281865367
|
|
NM_000330.4(RS1):c.643G>C (p.Glu215Gln)
|
rs281865367
|
|
NM_000330.4(RS1):c.647T>C (p.Leu216Pro)
|
rs281865368
|
|
NM_000330.4(RS1):c.655T>C (p.Cys219Arg)
|
rs281865369
|
|
NM_000330.4(RS1):c.655del (p.Cys219fs)
|
rs281865370
|
|
NM_000330.4(RS1):c.658_*7del (p.Val220fs)
|
rs281865371
|
|
NM_000330.4(RS1):c.666G>C (p.Lys222Asn)
|
rs1800004
|
|