Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.244863508_244864169del | CA2580063520 | HNRNPU | c.143_634+170del n.328_819+170del n.374_922+113del c.143_691+113del n.367_858+170del n.327_818+170del | ClinVar |
1 | g.244863867_244863884del | CA2580063537 | HNRNPU | c.107_124del c.429_446del (p.Asp143_Glu148del) n.614_631del c.213_230del (p.Asp71_Glu76del) n.660_677del c.129_146del (p.Asp43_Glu48del) n.653_670del n.613_630del | ClinVar |
1 | g.244863871C>A | CA345497107 | HNRNPU | c.115G>T c.437G>T (p.Gly146Val) n.622G>T c.221G>T (p.Gly74Val) n.668G>T c.137G>T (p.Gly46Val) n.661G>T n.621G>T | |
1 | g.244863871C= | CA1231007485 | HNRNPU | c.115G= c.437G= (p.Gly146=) n.622G= c.221G= (p.Gly74=) n.668G= c.137G= (p.Gly46=) n.661G= n.621G= | |
1 | g.244863871C>G | CA345497109 | HNRNPU | c.115G>C c.437G>C (p.Gly146Ala) n.622G>C c.221G>C (p.Gly74Ala) n.668G>C c.137G>C (p.Gly46Ala) n.661G>C n.621G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863871C>T | CA345497111 | HNRNPU | c.115G>A c.437G>A (p.Gly146Glu) n.622G>A c.221G>A (p.Gly74Glu) n.668G>A c.137G>A (p.Gly46Glu) n.661G>A n.621G>A | ClinVar |
1 | g.244863872C>A | CA345497113 | HNRNPU | c.114G>T c.436G>T (p.Gly146Trp) n.621G>T c.220G>T (p.Gly74Trp) n.667G>T c.136G>T (p.Gly46Trp) n.660G>T n.620G>T | |
1 | g.244863872C= | CA1231007486 | HNRNPU | c.114G= c.436G= (p.Gly146=) n.621G= c.220G= (p.Gly74=) n.667G= c.136G= (p.Gly46=) n.660G= n.620G= | |
1 | g.244863872C>G | CA40505154 | HNRNPU | c.114G>C c.436G>C (p.Gly146Arg) n.621G>C c.220G>C (p.Gly74Arg) n.667G>C c.136G>C (p.Gly46Arg) n.660G>C n.620G>C | ClinVar dbSNP |
1 | g.244863872C>T | CA345497115 | HNRNPU | c.114G>A c.436G>A (p.Gly146Arg) n.621G>A c.220G>A (p.Gly74Arg) n.667G>A c.136G>A (p.Gly46Arg) n.660G>A n.620G>A | |
1 | g.244863873G>A | CA424403078 | HNRNPU | c.113C>T c.435C>T (p.Leu145=) n.620C>T c.219C>T (p.Leu73=) n.666C>T c.135C>T (p.Leu45=) n.659C>T n.619C>T | ClinVar dbSNP |
1 | g.244863873G>C | CA424403081 | HNRNPU | c.113C>G c.435C>G (p.Leu145=) n.620C>G c.219C>G (p.Leu73=) n.666C>G c.135C>G (p.Leu45=) n.659C>G n.619C>G | dbSNP |
1 | g.244863873G= | CA1231007487 | HNRNPU | c.113C= c.435C= (p.Leu145=) n.620C= c.219C= (p.Leu73=) n.666C= c.135C= (p.Leu45=) n.659C= n.619C= | |
1 | g.244863873G>T | CA424403084 | HNRNPU | c.113C>A c.435C>A (p.Leu145=) n.620C>A c.219C>A (p.Leu73=) n.666C>A c.135C>A (p.Leu45=) n.659C>A n.619C>A | ClinVar |
1 | g.244863874A>C | CA345497119 | HNRNPU | c.112T>G c.434T>G (p.Leu145Arg) n.619T>G c.218T>G (p.Leu73Arg) n.665T>G c.134T>G (p.Leu45Arg) n.658T>G n.618T>G | |
1 | g.244863874A>G | CA345497121 | HNRNPU | c.112T>C c.434T>C (p.Leu145Pro) n.619T>C c.218T>C (p.Leu73Pro) n.665T>C c.134T>C (p.Leu45Pro) n.658T>C n.618T>C | |
1 | g.244863874A>T | CA345497118 | HNRNPU | c.112T>A c.434T>A (p.Leu145His) n.619T>A c.218T>A (p.Leu73His) n.665T>A c.134T>A (p.Leu45His) n.658T>A n.618T>A | |
1 | g.244863875G>A | CA1486801 | HNRNPU | c.111C>T c.433C>T (p.Leu145Phe) n.618C>T c.217C>T (p.Leu73Phe) n.664C>T c.133C>T (p.Leu45Phe) n.657C>T n.617C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863875G>C | CA345497122 | HNRNPU | c.111C>G c.433C>G (p.Leu145Val) n.618C>G c.217C>G (p.Leu73Val) n.664C>G c.133C>G (p.Leu45Val) n.657C>G n.617C>G | gnomAD v4 |
1 | g.244863875G= | CA1149036569 | HNRNPU | c.111C= c.433C= (p.Leu145=) n.618C= c.217C= (p.Leu73=) n.664C= c.133C= (p.Leu45=) n.657C= n.617C= | |
1 | g.244863875G>T | CA345497124 | HNRNPU | c.111C>A c.433C>A (p.Leu145Ile) n.618C>A c.217C>A (p.Leu73Ile) n.664C>A c.133C>A (p.Leu45Ile) n.657C>A n.617C>A | |
1 | g.244863876C>A | CA345497126 | HNRNPU | c.110G>T c.432G>T (p.Glu144Asp) n.617G>T c.216G>T (p.Glu72Asp) n.663G>T c.132G>T (p.Glu44Asp) n.656G>T n.616G>T | |
1 | g.244863876C>G | CA345497127 | HNRNPU | c.110G>C c.432G>C (p.Glu144Asp) n.617G>C c.216G>C (p.Glu72Asp) n.663G>C c.132G>C (p.Glu44Asp) n.656G>C n.616G>C | |
1 | g.244863876C>T | CA424403100 | HNRNPU | c.110G>A c.432G>A (p.Glu144=) n.617G>A c.216G>A (p.Glu72=) n.663G>A c.132G>A (p.Glu44=) n.656G>A n.616G>A | ClinVar |
1 | g.244863876_244863879delinsCTCA | CA1231007488 | HNRNPU | c.107_110delinsTGAG c.429_432delinsTGAG (p.Asp143=) n.614_617delinsTGAG c.213_216delinsTGAG (p.Asp71=) n.660_663delinsTGAG c.129_132delinsTGAG (p.Asp43=) n.653_656delinsTGAG n.613_616delinsTGAG | |
1 | g.244863877T>A | CA345497130 | HNRNPU | c.109A>T c.431A>T (p.Glu144Val) n.616A>T c.215A>T (p.Glu72Val) n.662A>T c.131A>T (p.Glu44Val) n.655A>T n.615A>T | |
1 | g.244863877T>C | CA345497129 | HNRNPU | c.109A>G c.431A>G (p.Glu144Gly) n.616A>G c.215A>G (p.Glu72Gly) n.662A>G c.131A>G (p.Glu44Gly) n.655A>G n.615A>G | |
1 | g.244863877T>G | CA345497128 | HNRNPU | c.109A>C c.431A>C (p.Glu144Ala) n.616A>C c.215A>C (p.Glu72Ala) n.662A>C c.131A>C (p.Glu44Ala) n.655A>C n.615A>C | |
1 | g.244863879_244863881del | CA40505161 | HNRNPU | c.107_109del c.429_431del (p.Asp143del) n.614_616del c.213_215del (p.Asp71del) n.660_662del c.129_131del (p.Asp43del) n.653_655del n.613_615del | dbSNP |
1 | g.244863878C>A | CA345497131 | HNRNPU | c.108G>T c.430G>T (p.Glu144Ter) n.615G>T c.214G>T (p.Glu72Ter) n.661G>T c.130G>T (p.Glu44Ter) n.654G>T n.614G>T | |
1 | g.244863878C>G | CA345497132 | HNRNPU | c.108G>C c.430G>C (p.Glu144Gln) n.615G>C c.214G>C (p.Glu72Gln) n.661G>C c.130G>C (p.Glu44Gln) n.654G>C n.614G>C | |
1 | g.244863878C>T | CA345497133 | HNRNPU | c.108G>A c.430G>A (p.Glu144Lys) n.615G>A c.214G>A (p.Glu72Lys) n.661G>A c.130G>A (p.Glu44Lys) n.654G>A n.614G>A | COSMIC COSMIC |
1 | g.244863879A= | CA1146418130 | HNRNPU | c.107T= c.429T= (p.Asp143=) n.614T= c.213T= (p.Asp71=) n.660T= c.129T= (p.Asp43=) n.653T= n.613T= | |
1 | g.244863879A>C | CA345497134 | HNRNPU | c.107T>G c.429T>G (p.Asp143Glu) n.614T>G c.213T>G (p.Asp71Glu) n.660T>G c.129T>G (p.Asp43Glu) n.653T>G n.613T>G | |
1 | g.244863879A>G | CA1486802 | HNRNPU | c.107T>C c.429T>C (p.Asp143=) n.614T>C c.213T>C (p.Asp71=) n.660T>C c.129T>C (p.Asp43=) n.653T>C n.613T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863879A>T | CA345497135 | HNRNPU | c.107T>A c.429T>A (p.Asp143Glu) n.614T>A c.213T>A (p.Asp71Glu) n.660T>A c.129T>A (p.Asp43Glu) n.653T>A n.613T>A | |
1 | g.244863880T>A | CA345497136 | HNRNPU | c.106A>T c.428A>T (p.Asp143Val) n.613A>T c.212A>T (p.Asp71Val) n.659A>T c.128A>T (p.Asp43Val) n.652A>T n.612A>T | |
1 | g.244863880T>C | CA345497138 | HNRNPU | c.106A>G c.428A>G (p.Asp143Gly) n.613A>G c.212A>G (p.Asp71Gly) n.659A>G c.128A>G (p.Asp43Gly) n.652A>G n.612A>G | gnomAD v4 |
1 | g.244863880T>G | CA345497137 | HNRNPU | c.106A>C c.428A>C (p.Asp143Ala) n.613A>C c.212A>C (p.Asp71Ala) n.659A>C c.128A>C (p.Asp43Ala) n.652A>C n.612A>C | |
1 | g.244863881C>A | CA345497139 | HNRNPU | c.105G>T c.427G>T (p.Asp143Tyr) n.612G>T c.211G>T (p.Asp71Tyr) n.658G>T c.127G>T (p.Asp43Tyr) n.651G>T n.611G>T | |
1 | g.244863881C>G | CA345497140 | HNRNPU | c.105G>C c.427G>C (p.Asp143His) n.612G>C c.211G>C (p.Asp71His) n.658G>C c.127G>C (p.Asp43His) n.651G>C n.611G>C | |
1 | g.244863881C>T | CA345497141 | HNRNPU | c.105G>A c.427G>A (p.Asp143Asn) n.612G>A c.211G>A (p.Asp71Asn) n.658G>A c.127G>A (p.Asp43Asn) n.651G>A n.611G>A | |
1 | g.244863882T>A | CA345497142 | HNRNPU | c.104A>T c.426A>T (p.Glu142Asp) n.611A>T c.210A>T (p.Glu70Asp) n.657A>T c.126A>T (p.Glu42Asp) n.650A>T n.610A>T | |
1 | g.244863882T>C | CA424403141 | HNRNPU | c.104A>G c.426A>G (p.Glu142=) n.611A>G c.210A>G (p.Glu70=) n.657A>G c.126A>G (p.Glu42=) n.650A>G n.610A>G | |
1 | g.244863882T>G | CA345497143 | HNRNPU | c.104A>C c.426A>C (p.Glu142Asp) n.611A>C c.210A>C (p.Glu70Asp) n.657A>C c.126A>C (p.Glu42Asp) n.650A>C n.610A>C | dbSNP gnomAD v4 |
1 | g.244863882T= | CA1231007489 | HNRNPU | c.104A= c.426A= (p.Glu142=) n.611A= c.210A= (p.Glu70=) n.657A= c.126A= (p.Glu42=) n.650A= n.610A= | |
1 | g.244863883T>A | CA345497144 | HNRNPU | c.103A>T c.425A>T (p.Glu142Val) n.610A>T c.209A>T (p.Glu70Val) n.656A>T c.125A>T (p.Glu42Val) n.649A>T n.609A>T | |
1 | g.244863883T>C | CA345497145 | HNRNPU | c.103A>G c.425A>G (p.Glu142Gly) n.610A>G c.209A>G (p.Glu70Gly) n.656A>G c.125A>G (p.Glu42Gly) n.649A>G n.609A>G | |
1 | g.244863883T>G | CA345497146 | HNRNPU | c.103A>C c.425A>C (p.Glu142Ala) n.610A>C c.209A>C (p.Glu70Ala) n.656A>C c.125A>C (p.Glu42Ala) n.649A>C n.609A>C | |
1 | g.244863884C>A | CA345497147 | HNRNPU | c.102G>T c.424G>T (p.Glu142Ter) n.609G>T c.208G>T (p.Glu70Ter) n.655G>T c.124G>T (p.Glu42Ter) n.648G>T n.608G>T | dbSNP |
1 | g.244863884C= | CA1231007490 | HNRNPU | c.102G= c.424G= (p.Glu142=) n.609G= c.208G= (p.Glu70=) n.655G= c.124G= (p.Glu42=) n.648G= n.608G= | |
1 | g.244863884C>G | CA345497148 | HNRNPU | c.102G>C c.424G>C (p.Glu142Gln) n.609G>C c.208G>C (p.Glu70Gln) n.655G>C c.124G>C (p.Glu42Gln) n.648G>C n.608G>C | |
1 | g.244863884C>T | CA345497149 | HNRNPU | c.102G>A c.424G>A (p.Glu142Lys) n.609G>A c.208G>A (p.Glu70Lys) n.655G>A c.124G>A (p.Glu42Lys) n.648G>A n.608G>A | |
1 | g.244863885C>A | CA1486803 | HNRNPU | c.101G>T c.423G>T (p.Gly141=) n.608G>T c.207G>T (p.Gly69=) n.654G>T c.123G>T (p.Gly41=) n.647G>T n.607G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863885C= | CA1231007491 | HNRNPU | c.101G= c.423G= (p.Gly141=) n.608G= c.207G= (p.Gly69=) n.654G= c.123G= (p.Gly41=) n.647G= n.607G= | |
1 | g.244863885C>G | CA424403154 | HNRNPU | c.101G>C c.423G>C (p.Gly141=) n.608G>C c.207G>C (p.Gly69=) n.654G>C c.123G>C (p.Gly41=) n.647G>C n.607G>C | dbSNP |
1 | g.244863885C>T | CA424403157 | HNRNPU | c.101G>A c.423G>A (p.Gly141=) n.608G>A c.207G>A (p.Gly69=) n.654G>A c.123G>A (p.Gly41=) n.647G>A n.607G>A | dbSNP gnomAD v4 |
1 | g.244863886C>A | CA345497152 | HNRNPU | c.100G>T c.422G>T (p.Gly141Val) n.607G>T c.206G>T (p.Gly69Val) n.653G>T c.122G>T (p.Gly41Val) n.646G>T n.606G>T | |
1 | g.244863886C>G | CA345497151 | HNRNPU | c.100G>C c.422G>C (p.Gly141Ala) n.607G>C c.206G>C (p.Gly69Ala) n.653G>C c.122G>C (p.Gly41Ala) n.646G>C n.606G>C | |
1 | g.244863886C>T | CA345497150 | HNRNPU | c.100G>A c.422G>A (p.Gly141Glu) n.607G>A c.206G>A (p.Gly69Glu) n.653G>A c.122G>A (p.Gly41Glu) n.646G>A n.606G>A | gnomAD v4 |
1 | g.244863886_244863887delinsTT | CA645532141 | HNRNPU | c.99_100delinsAA c.421_422delinsAA (p.Gly141Lys) n.606_607delinsAA c.205_206delinsAA (p.Gly69Lys) n.652_653delinsAA c.121_122delinsAA (p.Gly41Lys) n.645_646delinsAA n.605_606delinsAA | COSMIC COSMIC |
1 | g.244863887C>A | CA345497153 | HNRNPU | c.99G>T c.421G>T (p.Gly141Trp) n.606G>T c.205G>T (p.Gly69Trp) n.652G>T c.121G>T (p.Gly41Trp) n.645G>T n.605G>T | |
1 | g.244863887C>G | CA345497155 | HNRNPU | c.99G>C c.421G>C (p.Gly141Arg) n.606G>C c.205G>C (p.Gly69Arg) n.652G>C c.121G>C (p.Gly41Arg) n.645G>C n.605G>C | |
1 | g.244863887C>T | CA345497154 | HNRNPU | c.99G>A c.421G>A (p.Gly141Arg) n.606G>A c.205G>A (p.Gly69Arg) n.652G>A c.121G>A (p.Gly41Arg) n.645G>A n.605G>A | ClinVar |
1 | g.244863888T>A | CA345497156 | HNRNPU | c.98A>T c.420A>T (p.Glu140Asp) n.605A>T c.204A>T (p.Glu68Asp) n.651A>T c.120A>T (p.Glu40Asp) n.644A>T n.604A>T | |
1 | g.244863888T>C | CA424403168 | HNRNPU | c.98A>G c.420A>G (p.Glu140=) n.605A>G c.204A>G (p.Glu68=) n.651A>G c.120A>G (p.Glu40=) n.644A>G n.604A>G | |
1 | g.244863888T>G | CA345497157 | HNRNPU | c.98A>C c.420A>C (p.Glu140Asp) n.605A>C c.204A>C (p.Glu68Asp) n.651A>C c.120A>C (p.Glu40Asp) n.644A>C n.604A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863888T= | CA1231007492 | HNRNPU | c.98A= c.420A= (p.Glu140=) n.605A= c.204A= (p.Glu68=) n.651A= c.120A= (p.Glu40=) n.644A= n.604A= | |
1 | g.244863889T>A | CA345497158 | HNRNPU | c.97A>T c.419A>T (p.Glu140Val) n.604A>T c.203A>T (p.Glu68Val) n.650A>T c.119A>T (p.Glu40Val) n.643A>T n.603A>T | |
1 | g.244863889T>C | CA345497159 | HNRNPU | c.97A>G c.419A>G (p.Glu140Gly) n.604A>G c.203A>G (p.Glu68Gly) n.650A>G c.119A>G (p.Glu40Gly) n.643A>G n.603A>G | |
1 | g.244863889T>G | CA345497160 | HNRNPU | c.97A>C c.419A>C (p.Glu140Ala) n.604A>C c.203A>C (p.Glu68Ala) n.650A>C c.119A>C (p.Glu40Ala) n.643A>C n.603A>C | |
1 | g.244863890C>A | CA345497161 | HNRNPU | c.96G>T c.418G>T (p.Glu140Ter) n.603G>T c.202G>T (p.Glu68Ter) n.649G>T c.118G>T (p.Glu40Ter) n.642G>T n.602G>T | |
1 | g.244863890C= | CA1231007493 | HNRNPU | c.96G= c.418G= (p.Glu140=) n.603G= c.202G= (p.Glu68=) n.649G= c.118G= (p.Glu40=) n.642G= n.602G= | |
1 | g.244863890C>G | CA345497162 | HNRNPU | c.96G>C c.418G>C (p.Glu140Gln) n.603G>C c.202G>C (p.Glu68Gln) n.649G>C c.118G>C (p.Glu40Gln) n.642G>C n.602G>C | |
1 | g.244863890C>T | CA345497163 | HNRNPU | c.96G>A c.418G>A (p.Glu140Lys) n.603G>A c.202G>A (p.Glu68Lys) n.649G>A c.118G>A (p.Glu40Lys) n.642G>A n.602G>A | ClinVar dbSNP gnomAD v4 |
1 | g.244863891C>A | CA345497164 | HNRNPU | c.95G>T c.417G>T (p.Gln139His) n.602G>T c.201G>T (p.Gln67His) n.648G>T c.117G>T (p.Gln39His) n.641G>T n.601G>T | |
1 | g.244863891C>G | CA345497165 | HNRNPU | c.95G>C c.417G>C (p.Gln139His) n.602G>C c.201G>C (p.Gln67His) n.648G>C c.117G>C (p.Gln39His) n.641G>C n.601G>C | |
1 | g.244863891C>T | CA424403173 | HNRNPU | c.95G>A c.417G>A (p.Gln139=) n.602G>A c.201G>A (p.Gln67=) n.648G>A c.117G>A (p.Gln39=) n.641G>A n.601G>A | ClinVar |
1 | g.244863892T>A | CA1486804 | HNRNPU | c.94A>T c.416A>T (p.Gln139Leu) n.601A>T c.200A>T (p.Gln67Leu) n.647A>T c.116A>T (p.Gln39Leu) n.640A>T n.600A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863892T>C | CA345497166 | HNRNPU | c.94A>G c.416A>G (p.Gln139Arg) n.601A>G c.200A>G (p.Gln67Arg) n.647A>G c.116A>G (p.Gln39Arg) n.640A>G n.600A>G | |
1 | g.244863892T>G | CA345497167 | HNRNPU | c.94A>C c.416A>C (p.Gln139Pro) n.601A>C c.200A>C (p.Gln67Pro) n.647A>C c.116A>C (p.Gln39Pro) n.640A>C n.600A>C | |
1 | g.244863892T= | CA1149116145 | HNRNPU | c.94A= c.416A= (p.Gln139=) n.601A= c.200A= (p.Gln67=) n.647A= c.116A= (p.Gln39=) n.640A= n.600A= | |
1 | g.244863893G>A | CA345497170 | HNRNPU | c.93C>T c.415C>T (p.Gln139Ter) n.600C>T c.199C>T (p.Gln67Ter) n.646C>T c.115C>T (p.Gln39Ter) n.639C>T n.599C>T | ClinVar dbSNP |
1 | g.244863893G>C | CA345497168 | HNRNPU | c.93C>G c.415C>G (p.Gln139Glu) n.600C>G c.199C>G (p.Gln67Glu) n.646C>G c.115C>G (p.Gln39Glu) n.639C>G n.599C>G | |
1 | g.244863893G= | CA1231007494 | HNRNPU | c.93C= c.415C= (p.Gln139=) n.600C= c.199C= (p.Gln67=) n.646C= c.115C= (p.Gln39=) n.639C= n.599C= | |
1 | g.244863893G>T | CA345497169 | HNRNPU | c.93C>A c.415C>A (p.Gln139Lys) n.600C>A c.199C>A (p.Gln67Lys) n.646C>A c.115C>A (p.Gln39Lys) n.639C>A n.599C>A | |
1 | g.244863894G>A | CA424403181 | HNRNPU | c.92C>T c.414C>T (p.Phe138=) n.599C>T c.198C>T (p.Phe66=) n.645C>T c.114C>T (p.Phe38=) n.638C>T n.598C>T | |
1 | g.244863894G>C | CA345497171 | HNRNPU | c.92C>G c.414C>G (p.Phe138Leu) n.599C>G c.198C>G (p.Phe66Leu) n.645C>G c.114C>G (p.Phe38Leu) n.638C>G n.598C>G | |
1 | g.244863894G>T | CA345497172 | HNRNPU | c.92C>A c.414C>A (p.Phe138Leu) n.599C>A c.198C>A (p.Phe66Leu) n.645C>A c.114C>A (p.Phe38Leu) n.638C>A n.598C>A | |
1 | g.244863895A>C | CA345497173 | HNRNPU | c.91T>G c.413T>G (p.Phe138Cys) n.598T>G c.197T>G (p.Phe66Cys) n.644T>G c.113T>G (p.Phe38Cys) n.637T>G n.597T>G | |
1 | g.244863895A>G | CA345497174 | HNRNPU | c.91T>C c.413T>C (p.Phe138Ser) n.598T>C c.197T>C (p.Phe66Ser) n.644T>C c.113T>C (p.Phe38Ser) n.637T>C n.597T>C | gnomAD v4 |
1 | g.244863895A>T | CA345497175 | HNRNPU | c.91T>A c.413T>A (p.Phe138Tyr) n.598T>A c.197T>A (p.Phe66Tyr) n.644T>A c.113T>A (p.Phe38Tyr) n.637T>A n.597T>A | |
1 | g.244863896A>C | CA345497176 | HNRNPU | c.90T>G c.412T>G (p.Phe138Val) n.597T>G c.196T>G (p.Phe66Val) n.643T>G c.112T>G (p.Phe38Val) n.636T>G n.596T>G | |
1 | g.244863896A>G | CA345497177 | HNRNPU | c.90T>C c.412T>C (p.Phe138Leu) n.597T>C c.196T>C (p.Phe66Leu) n.643T>C c.112T>C (p.Phe38Leu) n.636T>C n.596T>C | |
1 | g.244863896A>T | CA345497178 | HNRNPU | c.90T>A c.412T>A (p.Phe138Ile) n.597T>A c.196T>A (p.Phe66Ile) n.643T>A c.112T>A (p.Phe38Ile) n.636T>A n.596T>A | |
1 | g.244863897A>C | CA424403196 | HNRNPU | c.89T>G c.411T>G (p.Gly137=) n.596T>G c.195T>G (p.Gly65=) n.642T>G c.111T>G (p.Gly37=) n.635T>G n.595T>G | |
1 | g.244863897A>G | CA424403197 | HNRNPU | c.89T>C c.411T>C (p.Gly137=) n.596T>C c.195T>C (p.Gly65=) n.642T>C c.111T>C (p.Gly37=) n.635T>C n.595T>C | |
1 | g.244863897A>T | CA424403198 | HNRNPU | c.89T>A c.411T>A (p.Gly137=) n.596T>A c.195T>A (p.Gly65=) n.642T>A c.111T>A (p.Gly37=) n.635T>A n.595T>A | |
1 | g.244863898C>A | CA345497179 | HNRNPU | c.88G>T c.410G>T (p.Gly137Val) n.595G>T c.194G>T (p.Gly65Val) n.641G>T c.110G>T (p.Gly37Val) n.634G>T n.594G>T | |
1 | g.244863898C>G | CA345497180 | HNRNPU | c.88G>C c.410G>C (p.Gly137Ala) n.595G>C c.194G>C (p.Gly65Ala) n.641G>C c.110G>C (p.Gly37Ala) n.634G>C n.594G>C | |
1 | g.244863898C>T | CA345497181 | HNRNPU | c.88G>A c.410G>A (p.Gly137Asp) n.595G>A c.194G>A (p.Gly65Asp) n.641G>A c.110G>A (p.Gly37Asp) n.634G>A n.594G>A | gnomAD v4 |
1 | g.244863899C>A | CA345497183 | HNRNPU | c.87G>T c.409G>T (p.Gly137Cys) n.594G>T c.193G>T (p.Gly65Cys) n.640G>T c.109G>T (p.Gly37Cys) n.633G>T n.593G>T | |
1 | g.244863899C= | CA1231007495 | HNRNPU | c.87G= c.409G= (p.Gly137=) n.594G= c.193G= (p.Gly65=) n.640G= c.109G= (p.Gly37=) n.633G= n.593G= | |
1 | g.244863899C>G | CA1486805 | HNRNPU | c.87G>C c.409G>C (p.Gly137Arg) n.594G>C c.193G>C (p.Gly65Arg) n.640G>C c.109G>C (p.Gly37Arg) n.633G>C n.593G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863899C>T | CA345497182 | HNRNPU | c.87G>A c.409G>A (p.Gly137Ser) n.594G>A c.193G>A (p.Gly65Ser) n.640G>A c.109G>A (p.Gly37Ser) n.633G>A n.593G>A | |
1 | g.244863900C>A | CA345497184 | HNRNPU | c.86G>T c.408G>T (p.Gln136His) n.593G>T c.192G>T (p.Gln64His) n.639G>T c.108G>T (p.Gln36His) n.632G>T n.592G>T | |
1 | g.244863900C= | CA1231007496 | HNRNPU | c.86G= c.408G= (p.Gln136=) n.593G= c.192G= (p.Gln64=) n.639G= c.108G= (p.Gln36=) n.632G= n.592G= | |
1 | g.244863900C>G | CA345497185 | HNRNPU | c.86G>C c.408G>C (p.Gln136His) n.593G>C c.192G>C (p.Gln64His) n.639G>C c.108G>C (p.Gln36His) n.632G>C n.592G>C | gnomAD v4 |
1 | g.244863900C>T | CA40505179 | HNRNPU | c.86G>A c.408G>A (p.Gln136=) n.593G>A c.192G>A (p.Gln64=) n.639G>A c.108G>A (p.Gln36=) n.632G>A n.592G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863901T>A | CA345497186 | HNRNPU | c.85A>T c.407A>T (p.Gln136Leu) n.592A>T c.191A>T (p.Gln64Leu) n.638A>T c.107A>T (p.Gln36Leu) n.631A>T n.591A>T | |
1 | g.244863901T>C | CA345497187 | HNRNPU | c.85A>G c.407A>G (p.Gln136Arg) n.592A>G c.191A>G (p.Gln64Arg) n.638A>G c.107A>G (p.Gln36Arg) n.631A>G n.591A>G | |
1 | g.244863901T>G | CA345497188 | HNRNPU | c.85A>C c.407A>C (p.Gln136Pro) n.592A>C c.191A>C (p.Gln64Pro) n.638A>C c.107A>C (p.Gln36Pro) n.631A>C n.591A>C | |
1 | g.244863902G>A | CA345497191 | HNRNPU | c.84C>T c.406C>T (p.Gln136Ter) n.591C>T c.190C>T (p.Gln64Ter) n.637C>T c.106C>T (p.Gln36Ter) n.630C>T n.590C>T | |
1 | g.244863902G>C | CA345497190 | HNRNPU | c.84C>G c.406C>G (p.Gln136Glu) n.591C>G c.190C>G (p.Gln64Glu) n.637C>G c.106C>G (p.Gln36Glu) n.630C>G n.590C>G | |
1 | g.244863902G>T | CA345497189 | HNRNPU | c.84C>A c.406C>A (p.Gln136Lys) n.591C>A c.190C>A (p.Gln64Lys) n.637C>A c.106C>A (p.Gln36Lys) n.630C>A n.590C>A | |
1 | g.244863903A= | CA1231007497 | HNRNPU | c.83T= c.405T= (p.Asp135=) n.590T= c.189T= (p.Asp63=) n.636T= c.105T= (p.Asp35=) n.629T= n.589T= | |
1 | g.244863903A>C | CA345497192 | HNRNPU | c.83T>G c.405T>G (p.Asp135Glu) n.590T>G c.189T>G (p.Asp63Glu) n.636T>G c.105T>G (p.Asp35Glu) n.629T>G n.589T>G | |
1 | g.244863903A>G | CA1486806 | HNRNPU | c.83T>C c.405T>C (p.Asp135=) n.590T>C c.189T>C (p.Asp63=) n.636T>C c.105T>C (p.Asp35=) n.629T>C n.589T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863903A>T | CA345497193 | HNRNPU | c.83T>A c.405T>A (p.Asp135Glu) n.590T>A c.189T>A (p.Asp63Glu) n.636T>A c.105T>A (p.Asp35Glu) n.629T>A n.589T>A | |
1 | g.244863904T>A | CA345497194 | HNRNPU | c.82A>T c.404A>T (p.Asp135Val) n.589A>T c.188A>T (p.Asp63Val) n.635A>T c.104A>T (p.Asp35Val) n.628A>T n.588A>T | |
1 | g.244863904T>C | CA345497195 | HNRNPU | c.82A>G c.404A>G (p.Asp135Gly) n.589A>G c.188A>G (p.Asp63Gly) n.635A>G c.104A>G (p.Asp35Gly) n.628A>G n.588A>G | |
1 | g.244863904T>G | CA345497196 | HNRNPU | c.82A>C c.404A>C (p.Asp135Ala) n.589A>C c.188A>C (p.Asp63Ala) n.635A>C c.104A>C (p.Asp35Ala) n.628A>C n.588A>C | |
1 | g.244863905C>A | CA345497197 | HNRNPU | c.81G>T c.403G>T (p.Asp135Tyr) n.588G>T c.187G>T (p.Asp63Tyr) n.634G>T c.103G>T (p.Asp35Tyr) n.627G>T n.587G>T | |
1 | g.244863905C>G | CA345497199 | HNRNPU | c.81G>C c.403G>C (p.Asp135His) n.588G>C c.187G>C (p.Asp63His) n.634G>C c.103G>C (p.Asp35His) n.627G>C n.587G>C | |
1 | g.244863905C>T | CA345497198 | HNRNPU | c.81G>A c.403G>A (p.Asp135Asn) n.588G>A c.187G>A (p.Asp63Asn) n.634G>A c.103G>A (p.Asp35Asn) n.627G>A n.587G>A | |
1 | g.244863905_244863907delinsCGT | CA1231007498 | HNRNPU | c.79_81delinsACG c.401_403delinsACG (p.Asp134=) n.586_588delinsACG c.185_187delinsACG (p.Asp62=) n.632_634delinsACG c.101_103delinsACG (p.Asp34=) n.625_627delinsACG n.585_587delinsACG | |
1 | g.244863906G>A | CA424403224 | HNRNPU | c.80C>T c.402C>T (p.Asp134=) n.587C>T c.186C>T (p.Asp62=) n.633C>T c.102C>T (p.Asp34=) n.626C>T n.586C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863906G>C | CA345497200 | HNRNPU | c.80C>G c.402C>G (p.Asp134Glu) n.587C>G c.186C>G (p.Asp62Glu) n.633C>G c.102C>G (p.Asp34Glu) n.626C>G n.586C>G | |
1 | g.244863906G= | CA1231007499 | HNRNPU | c.80C= c.402C= (p.Asp134=) n.587C= c.186C= (p.Asp62=) n.633C= c.102C= (p.Asp34=) n.626C= n.586C= | |
1 | g.244863906G>T | CA345497201 | HNRNPU | c.80C>A c.402C>A (p.Asp134Glu) n.587C>A c.186C>A (p.Asp62Glu) n.633C>A c.102C>A (p.Asp34Glu) n.626C>A n.586C>A | |
1 | g.244863906_244863907del | CA658683174 | HNRNPU | c.79_80del c.401_402del (p.Asp134GlyfsTer10) n.586_587del c.185_186del (p.Asp62GlyfsTer10) n.632_633del c.101_102del (p.Asp34GlyfsTer10) n.625_626del n.585_586del | ClinVar dbSNP |
1 | g.244863907T>A | CA345497202 | HNRNPU | c.79A>T c.401A>T (p.Asp134Val) n.586A>T c.185A>T (p.Asp62Val) n.632A>T c.101A>T (p.Asp34Val) n.625A>T n.585A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863907T>C | CA345497203 | HNRNPU | c.79A>G c.401A>G (p.Asp134Gly) n.586A>G c.185A>G (p.Asp62Gly) n.632A>G c.101A>G (p.Asp34Gly) n.625A>G n.585A>G | |
1 | g.244863907T>G | CA345497204 | HNRNPU | c.79A>C c.401A>C (p.Asp134Ala) n.586A>C c.185A>C (p.Asp62Ala) n.632A>C c.101A>C (p.Asp34Ala) n.625A>C n.585A>C | |
1 | g.244863907T= | CA1231007500 | HNRNPU | c.79A= c.401A= (p.Asp134=) n.586A= c.185A= (p.Asp62=) n.632A= c.101A= (p.Asp34=) n.625A= n.585A= | |
1 | g.244863909_244863915del | CA658764575 | HNRNPU | c.73_79del c.395_401del (p.Asn132ThrfsTer?) n.580_586del c.179_185del (p.Asn60ThrfsTer?) n.626_632del c.95_101del (p.Asn32ThrfsTer?) n.619_625del n.579_585del | |
1 | g.244863908C>A | CA345497205 | HNRNPU | c.78G>T c.400G>T (p.Asp134Tyr) n.585G>T c.184G>T (p.Asp62Tyr) n.631G>T c.100G>T (p.Asp34Tyr) n.624G>T n.584G>T | |
1 | g.244863908C>G | CA345497206 | HNRNPU | c.78G>C c.400G>C (p.Asp134His) n.585G>C c.184G>C (p.Asp62His) n.631G>C c.100G>C (p.Asp34His) n.624G>C n.584G>C | |
1 | g.244863908C>T | CA345497207 | HNRNPU | c.78G>A c.400G>A (p.Asp134Asn) n.585G>A c.184G>A (p.Asp62Asn) n.631G>A c.100G>A (p.Asp34Asn) n.624G>A n.584G>A | |
1 | g.244863909G>A | CA424403232 | HNRNPU | c.77C>T c.399C>T (p.Gly133=) n.584C>T c.183C>T (p.Gly61=) n.630C>T c.99C>T (p.Gly33=) n.623C>T n.583C>T | gnomAD v4 |
1 | g.244863909G>C | CA424403240 | HNRNPU | c.77C>G c.399C>G (p.Gly133=) n.584C>G c.183C>G (p.Gly61=) n.630C>G c.99C>G (p.Gly33=) n.623C>G n.583C>G | |
1 | g.244863909G>T | CA424403238 | HNRNPU | c.77C>A c.399C>A (p.Gly133=) n.584C>A c.183C>A (p.Gly61=) n.630C>A c.99C>A (p.Gly33=) n.623C>A n.583C>A | |
1 | g.244863910C>A | CA345497208 | HNRNPU | c.76G>T c.398G>T (p.Gly133Val) n.583G>T c.182G>T (p.Gly61Val) n.629G>T c.98G>T (p.Gly33Val) n.622G>T n.582G>T | |
1 | g.244863910C>G | CA345497209 | HNRNPU | c.76G>C c.398G>C (p.Gly133Ala) n.583G>C c.182G>C (p.Gly61Ala) n.629G>C c.98G>C (p.Gly33Ala) n.622G>C n.582G>C | |
1 | g.244863910C>T | CA345497210 | HNRNPU | c.76G>A c.398G>A (p.Gly133Asp) n.583G>A c.182G>A (p.Gly61Asp) n.629G>A c.98G>A (p.Gly33Asp) n.622G>A n.582G>A | |
1 | g.244863911C>A | CA345497213 | HNRNPU | c.75G>T c.397G>T (p.Gly133Cys) n.582G>T c.181G>T (p.Gly61Cys) n.628G>T c.97G>T (p.Gly33Cys) n.621G>T n.581G>T | |
1 | g.244863911C>G | CA345497212 | HNRNPU | c.75G>C c.397G>C (p.Gly133Arg) n.582G>C c.181G>C (p.Gly61Arg) n.628G>C c.97G>C (p.Gly33Arg) n.621G>C n.581G>C | |
1 | g.244863911C>T | CA345497211 | HNRNPU | c.75G>A c.397G>A (p.Gly133Ser) n.582G>A c.181G>A (p.Gly61Ser) n.628G>A c.97G>A (p.Gly33Ser) n.621G>A n.581G>A | |
1 | g.244863912G>A | CA424403247 | HNRNPU | c.74C>T c.396C>T (p.Asn132=) n.581C>T c.180C>T (p.Asn60=) n.627C>T c.96C>T (p.Asn32=) n.620C>T n.580C>T | |
1 | g.244863912G>C | CA345497214 | HNRNPU | c.74C>G c.396C>G (p.Asn132Lys) n.581C>G c.180C>G (p.Asn60Lys) n.627C>G c.96C>G (p.Asn32Lys) n.620C>G n.580C>G | |
1 | g.244863912G= | CA1231007501 | HNRNPU | c.74C= c.396C= (p.Asn132=) n.581C= c.180C= (p.Asn60=) n.627C= c.96C= (p.Asn32=) n.620C= n.580C= | |
1 | g.244863912G>T | CA345497215 | HNRNPU | c.74C>A c.396C>A (p.Asn132Lys) n.581C>A c.180C>A (p.Asn60Lys) n.627C>A c.96C>A (p.Asn32Lys) n.620C>A n.580C>A | dbSNP gnomAD v4 |
1 | g.244863913T>A | CA345497216 | HNRNPU | c.73A>T c.395A>T (p.Asn132Ile) n.580A>T c.179A>T (p.Asn60Ile) n.626A>T c.95A>T (p.Asn32Ile) n.619A>T n.579A>T | |
1 | g.244863913T>C | CA345497217 | HNRNPU | c.73A>G c.395A>G (p.Asn132Ser) n.580A>G c.179A>G (p.Asn60Ser) n.626A>G c.95A>G (p.Asn32Ser) n.619A>G n.579A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863913T>G | CA345497218 | HNRNPU | c.73A>C c.395A>C (p.Asn132Thr) n.580A>C c.179A>C (p.Asn60Thr) n.626A>C c.95A>C (p.Asn32Thr) n.619A>C n.579A>C | |
1 | g.244863913T= | CA1231007502 | HNRNPU | c.73A= c.395A= (p.Asn132=) n.580A= c.179A= (p.Asn60=) n.626A= c.95A= (p.Asn32=) n.619A= n.579A= | |
1 | g.244863914T>A | CA345497219 | HNRNPU | c.72A>T c.394A>T (p.Asn132Tyr) n.579A>T c.178A>T (p.Asn60Tyr) n.625A>T c.94A>T (p.Asn32Tyr) n.618A>T n.578A>T | |
1 | g.244863914T>C | CA345497220 | HNRNPU | c.72A>G c.394A>G (p.Asn132Asp) n.579A>G c.178A>G (p.Asn60Asp) n.625A>G c.94A>G (p.Asn32Asp) n.618A>G n.578A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863914T>G | CA345497221 | HNRNPU | c.72A>C c.394A>C (p.Asn132His) n.579A>C c.178A>C (p.Asn60His) n.625A>C c.94A>C (p.Asn32His) n.618A>C n.578A>C | |
1 | g.244863914T= | CA1231007503 | HNRNPU | c.72A= c.394A= (p.Asn132=) n.579A= c.178A= (p.Asn60=) n.625A= c.94A= (p.Asn32=) n.618A= n.578A= | |
1 | g.244863915C>A | CA345497222 | HNRNPU | c.71G>T c.393G>T (p.Glu131Asp) n.578G>T c.177G>T (p.Glu59Asp) n.624G>T c.93G>T (p.Glu31Asp) n.617G>T n.577G>T | |
1 | g.244863915C= | CA1231007504 | HNRNPU | c.71G= c.393G= (p.Glu131=) n.578G= c.177G= (p.Glu59=) n.624G= c.93G= (p.Glu31=) n.617G= n.577G= | |
1 | g.244863915C>G | CA345497223 | HNRNPU | c.71G>C c.393G>C (p.Glu131Asp) n.578G>C c.177G>C (p.Glu59Asp) n.624G>C c.93G>C (p.Glu31Asp) n.617G>C n.577G>C | COSMIC COSMIC |
1 | g.244863915C>T | CA424403261 | HNRNPU | c.71G>A c.393G>A (p.Glu131=) n.578G>A c.177G>A (p.Glu59=) n.624G>A c.93G>A (p.Glu31=) n.617G>A n.577G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863916T>A | CA345497224 | HNRNPU | c.70A>T c.392A>T (p.Glu131Val) n.577A>T c.176A>T (p.Glu59Val) n.623A>T c.92A>T (p.Glu31Val) n.616A>T n.576A>T | |
1 | g.244863916T>C | CA345497225 | HNRNPU | c.70A>G c.392A>G (p.Glu131Gly) n.577A>G c.176A>G (p.Glu59Gly) n.623A>G c.92A>G (p.Glu31Gly) n.616A>G n.576A>G | |
1 | g.244863916T>G | CA345497226 | HNRNPU | c.70A>C c.392A>C (p.Glu131Ala) n.577A>C c.176A>C (p.Glu59Ala) n.623A>C c.92A>C (p.Glu31Ala) n.616A>C n.576A>C | |
1 | g.244863917C>A | CA345497229 | HNRNPU | c.69G>T c.391G>T (p.Glu131Ter) n.576G>T c.175G>T (p.Glu59Ter) n.622G>T c.91G>T (p.Glu31Ter) n.615G>T n.575G>T | COSMIC |
1 | g.244863917C= | CA1231007505 | HNRNPU | c.69G= c.391G= (p.Glu131=) n.576G= c.175G= (p.Glu59=) n.622G= c.91G= (p.Glu31=) n.615G= n.575G= | |
1 | g.244863917C>G | CA345497228 | HNRNPU | c.69G>C c.391G>C (p.Glu131Gln) n.576G>C c.175G>C (p.Glu59Gln) n.622G>C c.91G>C (p.Glu31Gln) n.615G>C n.575G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863917C>T | CA345497227 | HNRNPU | c.69G>A c.391G>A (p.Glu131Lys) n.576G>A c.175G>A (p.Glu59Lys) n.622G>A c.91G>A (p.Glu31Lys) n.615G>A n.575G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863918G>A | CA1486807 | HNRNPU | c.68C>T c.390C>T (p.Asp130=) n.575C>T c.174C>T (p.Asp58=) n.621C>T c.90C>T (p.Asp30=) n.614C>T n.574C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863918G>C | CA345497230 | HNRNPU | c.68C>G c.390C>G (p.Asp130Glu) n.575C>G c.174C>G (p.Asp58Glu) n.621C>G c.90C>G (p.Asp30Glu) n.614C>G n.574C>G | |
1 | g.244863918G= | CA1143437944 | HNRNPU | c.68C= c.390C= (p.Asp130=) n.575C= c.174C= (p.Asp58=) n.621C= c.90C= (p.Asp30=) n.614C= n.574C= | |
1 | g.244863918G>T | CA345497231 | HNRNPU | c.68C>A c.390C>A (p.Asp130Glu) n.575C>A c.174C>A (p.Asp58Glu) n.621C>A c.90C>A (p.Asp30Glu) n.614C>A n.574C>A | |
1 | g.244863919T>A | CA345497232 | HNRNPU | c.67A>T c.389A>T (p.Asp130Val) n.574A>T c.173A>T (p.Asp58Val) n.620A>T c.89A>T (p.Asp30Val) n.613A>T n.573A>T | |
1 | g.244863919T>C | CA1486808 | HNRNPU | c.67A>G c.389A>G (p.Asp130Gly) n.574A>G c.173A>G (p.Asp58Gly) n.620A>G c.89A>G (p.Asp30Gly) n.613A>G n.573A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863919T>G | CA345497233 | HNRNPU | c.67A>C c.389A>C (p.Asp130Ala) n.574A>C c.173A>C (p.Asp58Ala) n.620A>C c.89A>C (p.Asp30Ala) n.613A>C n.573A>C | |
1 | g.244863919T= | CA1231007506 | HNRNPU | c.67A= c.389A= (p.Asp130=) n.574A= c.173A= (p.Asp58=) n.620A= c.89A= (p.Asp30=) n.613A= n.573A= | |
1 | g.244863920C>A | CA345497234 | HNRNPU | c.66G>T c.388G>T (p.Asp130Tyr) n.573G>T c.172G>T (p.Asp58Tyr) n.619G>T c.88G>T (p.Asp30Tyr) n.612G>T n.572G>T | |
1 | g.244863920C= | CA1231007507 | HNRNPU | c.66G= c.388G= (p.Asp130=) n.573G= c.172G= (p.Asp58=) n.619G= c.88G= (p.Asp30=) n.612G= n.572G= | |
1 | g.244863920C>G | CA345497235 | HNRNPU | c.66G>C c.388G>C (p.Asp130His) n.573G>C c.172G>C (p.Asp58His) n.619G>C c.88G>C (p.Asp30His) n.612G>C n.572G>C | |
1 | g.244863920C>T | CA345497236 | HNRNPU | c.66G>A c.388G>A (p.Asp130Asn) n.573G>A c.172G>A (p.Asp58Asn) n.619G>A c.88G>A (p.Asp30Asn) n.612G>A n.572G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863921T>A | CA345497237 | HNRNPU | c.65A>T c.387A>T (p.Glu129Asp) n.572A>T c.171A>T (p.Glu57Asp) n.618A>T c.87A>T (p.Glu29Asp) n.611A>T n.571A>T | |
1 | g.244863921T>C | CA424403284 | HNRNPU | c.65A>G c.387A>G (p.Glu129=) n.572A>G c.171A>G (p.Glu57=) n.618A>G c.87A>G (p.Glu29=) n.611A>G n.571A>G | |
1 | g.244863921T>G | CA345497238 | HNRNPU | c.65A>C c.387A>C (p.Glu129Asp) n.572A>C c.171A>C (p.Glu57Asp) n.618A>C c.87A>C (p.Glu29Asp) n.611A>C n.571A>C | |
1 | g.244863922T>A | CA345497239 | HNRNPU | c.64A>T c.386A>T (p.Glu129Val) n.571A>T c.170A>T (p.Glu57Val) n.617A>T c.86A>T (p.Glu29Val) n.610A>T n.570A>T | |
1 | g.244863922T>C | CA345497240 | HNRNPU | c.64A>G c.386A>G (p.Glu129Gly) n.571A>G c.170A>G (p.Glu57Gly) n.617A>G c.86A>G (p.Glu29Gly) n.610A>G n.570A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863922T>G | CA345497241 | HNRNPU | c.64A>C c.386A>C (p.Glu129Ala) n.571A>C c.170A>C (p.Glu57Ala) n.617A>C c.86A>C (p.Glu29Ala) n.610A>C n.570A>C | |
1 | g.244863922T= | CA1231007508 | HNRNPU | c.64A= c.386A= (p.Glu129=) n.571A= c.170A= (p.Glu57=) n.617A= c.86A= (p.Glu29=) n.610A= n.570A= | |
1 | g.244863923C>A | CA345497243 | HNRNPU | c.63G>T c.385G>T (p.Glu129Ter) n.570G>T c.169G>T (p.Glu57Ter) n.616G>T c.85G>T (p.Glu29Ter) n.609G>T n.569G>T | |
1 | g.244863923C>G | CA345497244 | HNRNPU | c.63G>C c.385G>C (p.Glu129Gln) n.570G>C c.169G>C (p.Glu57Gln) n.616G>C c.85G>C (p.Glu29Gln) n.609G>C n.569G>C | |
1 | g.244863923C>T | CA345497242 | HNRNPU | c.63G>A c.385G>A (p.Glu129Lys) n.570G>A c.169G>A (p.Glu57Lys) n.616G>A c.85G>A (p.Glu29Lys) n.609G>A n.569G>A | |
1 | g.244863924C>A | CA424403291 | HNRNPU | c.62G>T c.384G>T (p.Ser128=) n.569G>T c.168G>T (p.Ser56=) n.615G>T c.84G>T (p.Ser28=) n.608G>T n.568G>T | |
1 | g.244863924C>G | CA424403293 | HNRNPU | c.62G>C c.384G>C (p.Ser128=) n.569G>C c.168G>C (p.Ser56=) n.615G>C c.84G>C (p.Ser28=) n.608G>C n.568G>C | |
1 | g.244863924C>T | CA424403294 | HNRNPU | c.62G>A c.384G>A (p.Ser128=) n.569G>A c.168G>A (p.Ser56=) n.615G>A c.84G>A (p.Ser28=) n.608G>A n.568G>A | ClinVar dbSNP |
1 | g.244863925G>A | CA345497245 | HNRNPU | c.61C>T c.383C>T (p.Ser128Leu) n.568C>T c.167C>T (p.Ser56Leu) n.614C>T c.83C>T (p.Ser28Leu) n.607C>T n.567C>T | |
1 | g.244863925G>C | CA345497246 | HNRNPU | c.61C>G c.383C>G (p.Ser128Trp) n.568C>G c.167C>G (p.Ser56Trp) n.614C>G c.83C>G (p.Ser28Trp) n.607C>G n.567C>G | |
1 | g.244863925G>T | CA345497247 | HNRNPU | c.61C>A c.383C>A (p.Ser128Ter) n.568C>A c.167C>A (p.Ser56Ter) n.614C>A c.83C>A (p.Ser28Ter) n.607C>A n.567C>A | |
1 | g.244863926A>C | CA345497248 | HNRNPU | c.60T>G c.382T>G (p.Ser128Ala) n.567T>G c.166T>G (p.Ser56Ala) n.613T>G c.82T>G (p.Ser28Ala) n.606T>G n.566T>G | |
1 | g.244863926A>G | CA345497249 | HNRNPU | c.60T>C c.382T>C (p.Ser128Pro) n.567T>C c.166T>C (p.Ser56Pro) n.613T>C c.82T>C (p.Ser28Pro) n.606T>C n.566T>C | |
1 | g.244863926A>T | CA345497250 | HNRNPU | c.60T>A c.382T>A (p.Ser128Thr) n.567T>A c.166T>A (p.Ser56Thr) n.613T>A c.82T>A (p.Ser28Thr) n.606T>A n.566T>A | |
1 | g.244863927G>A | CA40505188 | HNRNPU | c.59C>T c.381C>T (p.Ala127=) n.566C>T c.165C>T (p.Ala55=) n.612C>T c.81C>T (p.Ala27=) n.605C>T n.565C>T | dbSNP |
1 | g.244863927G>C | CA424403308 | HNRNPU | c.59C>G c.381C>G (p.Ala127=) n.566C>G c.165C>G (p.Ala55=) n.612C>G c.81C>G (p.Ala27=) n.605C>G n.565C>G | |
1 | g.244863927G= | CA1231007509 | HNRNPU | c.59C= c.381C= (p.Ala127=) n.566C= c.165C= (p.Ala55=) n.612C= c.81C= (p.Ala27=) n.605C= n.565C= | |
1 | g.244863927G>T | CA424403315 | HNRNPU | c.59C>A c.381C>A (p.Ala127=) n.566C>A c.165C>A (p.Ala55=) n.612C>A c.81C>A (p.Ala27=) n.605C>A n.565C>A | |
1 | g.244863928G>A | CA1486809 | HNRNPU | c.58C>T c.380C>T (p.Ala127Val) n.565C>T c.164C>T (p.Ala55Val) n.611C>T c.80C>T (p.Ala27Val) n.604C>T n.564C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863928G>C | CA345497251 | HNRNPU | c.58C>G c.380C>G (p.Ala127Gly) n.565C>G c.164C>G (p.Ala55Gly) n.611C>G c.80C>G (p.Ala27Gly) n.604C>G n.564C>G | |
1 | g.244863928G= | CA1231007510 | HNRNPU | c.58C= c.380C= (p.Ala127=) n.565C= c.164C= (p.Ala55=) n.611C= c.80C= (p.Ala27=) n.604C= n.564C= | |
1 | g.244863928G>T | CA345497252 | HNRNPU | c.58C>A c.380C>A (p.Ala127Asp) n.565C>A c.164C>A (p.Ala55Asp) n.611C>A c.80C>A (p.Ala27Asp) n.604C>A n.564C>A | |
1 | g.244863929C>A | CA345497253 | HNRNPU | c.57G>T c.379G>T (p.Ala127Ser) n.564G>T c.163G>T (p.Ala55Ser) n.610G>T c.79G>T (p.Ala27Ser) n.603G>T n.563G>T | |
1 | g.244863929C>G | CA345497254 | HNRNPU | c.57G>C c.379G>C (p.Ala127Pro) n.564G>C c.163G>C (p.Ala55Pro) n.610G>C c.79G>C (p.Ala27Pro) n.603G>C n.563G>C | |
1 | g.244863929C>T | CA345497255 | HNRNPU | c.57G>A c.379G>A (p.Ala127Thr) n.564G>A c.163G>A (p.Ala55Thr) n.610G>A c.79G>A (p.Ala27Thr) n.603G>A n.563G>A | |
1 | g.244863934_244863963dup | CA2651343513 | HNRNPU | c.28_57dup c.350_379dup (p.Ala126_Ala127insAspSerGlyProMetGluGluGluGluAla) n.535_564dup c.134_163dup (p.Ala54_Ala55insAspSerGlyProMetGluGluGluGluAla) n.581_610dup c.50_79dup (p.Ala26_Ala27insAspSerGlyProMetGluGluGluGluAla) n.574_603dup n.534_563dup | gnomAD v4 |
1 | g.244863930G>A | CA424403326 | HNRNPU | c.56C>T c.378C>T (p.Ala126=) n.563C>T c.162C>T (p.Ala54=) n.609C>T c.78C>T (p.Ala26=) n.602C>T n.562C>T | ClinVar |
1 | g.244863930G>C | CA424403328 | HNRNPU | c.56C>G c.378C>G (p.Ala126=) n.563C>G c.162C>G (p.Ala54=) n.609C>G c.78C>G (p.Ala26=) n.602C>G n.562C>G | |
1 | g.244863930G>T | CA424403330 | HNRNPU | c.56C>A c.378C>A (p.Ala126=) n.563C>A c.162C>A (p.Ala54=) n.609C>A c.78C>A (p.Ala26=) n.602C>A n.562C>A | |
1 | g.244863931G>A | CA345497258 | HNRNPU | c.55C>T c.377C>T (p.Ala126Val) n.562C>T c.161C>T (p.Ala54Val) n.608C>T c.77C>T (p.Ala26Val) n.601C>T n.561C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863931G>C | CA345497256 | HNRNPU | c.55C>G c.377C>G (p.Ala126Gly) n.562C>G c.161C>G (p.Ala54Gly) n.608C>G c.77C>G (p.Ala26Gly) n.601C>G n.561C>G | |
1 | g.244863931G= | CA1231007512 | HNRNPU | c.55C= c.377C= (p.Ala126=) n.562C= c.161C= (p.Ala54=) n.608C= c.77C= (p.Ala26=) n.601C= n.561C= | |
1 | g.244863931G>T | CA345497257 | HNRNPU | c.55C>A c.377C>A (p.Ala126Asp) n.562C>A c.161C>A (p.Ala54Asp) n.608C>A c.77C>A (p.Ala26Asp) n.601C>A n.561C>A | |
1 | g.244863931_244863933dup | CA2574464055 | HNRNPU | c.53_55dup c.375_377dup (p.Ala126_Ala127insAla) n.560_562dup c.159_161dup (p.Ala54_Ala55insAla) n.606_608dup c.75_77dup (p.Ala26_Ala27insAla) n.599_601dup n.559_561dup | |
1 | g.244863931_244863934delinsGCCT | CA1231007511 | HNRNPU | c.52_55delinsAGGC c.374_377delinsAGGC (p.Glu125=) n.559_562delinsAGGC c.158_161delinsAGGC (p.Glu53=) n.605_608delinsAGGC c.74_77delinsAGGC (p.Glu25=) n.598_601delinsAGGC n.558_561delinsAGGC | |
1 | g.244863932C>A | CA345497259 | HNRNPU | c.54G>T c.376G>T (p.Ala126Ser) n.561G>T c.160G>T (p.Ala54Ser) n.607G>T c.76G>T (p.Ala26Ser) n.600G>T n.560G>T | |
1 | g.244863932C>G | CA345497260 | HNRNPU | c.54G>C c.376G>C (p.Ala126Pro) n.561G>C c.160G>C (p.Ala54Pro) n.607G>C c.76G>C (p.Ala26Pro) n.600G>C n.560G>C | ClinVar |
1 | g.244863932C>T | CA345497261 | HNRNPU | c.54G>A c.376G>A (p.Ala126Thr) n.561G>A c.160G>A (p.Ala54Thr) n.607G>A c.76G>A (p.Ala26Thr) n.600G>A n.560G>A | |
1 | g.244863932_244863945delinsCCTCCTCCTCCTCC | CA1148437400 | HNRNPU | c.41_54delinsGGAGGAGGAGGAGG c.363_376delinsGGAGGAGGAGGAGG (p.Met121=) n.548_561delinsGGAGGAGGAGGAGG c.147_160delinsGGAGGAGGAGGAGG (p.Met49=) n.594_607delinsGGAGGAGGAGGAGG c.63_76delinsGGAGGAGGAGGAGG (p.Met21=) n.587_600delinsGGAGGAGGAGGAGG n.547_560delinsGGAGGAGGAGGAGG | |
1 | g.244863943_244863945dup | CA1486811 | HNRNPU | c.52_54dup c.374_376dup (p.Glu125_Ala126insGlu) n.559_561dup c.158_160dup (p.Glu53_Ala54insGlu) n.605_607dup c.74_76dup (p.Glu25_Ala26insGlu) n.598_600dup n.558_560dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863940_244863945dup | CA1014270480 | HNRNPU | c.49_54dup c.371_376dup (p.Glu125_Ala126insGluGlu) n.556_561dup c.155_160dup (p.Glu53_Ala54insGluGlu) n.602_607dup c.71_76dup (p.Glu25_Ala26insGluGlu) n.595_600dup n.555_560dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863943_244863945del | CA1486810 | HNRNPU | c.52_54del c.374_376del (p.Glu125del) n.559_561del c.158_160del (p.Glu53del) n.605_607del c.74_76del (p.Glu25del) n.598_600del n.558_560del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863933C>A | CA345497262 | HNRNPU | c.53G>T c.375G>T (p.Glu125Asp) n.560G>T c.159G>T (p.Glu53Asp) n.606G>T c.75G>T (p.Glu25Asp) n.599G>T n.559G>T | |
1 | g.244863933C= | CA1231007514 | HNRNPU | c.53G= c.375G= (p.Glu125=) n.560G= c.159G= (p.Glu53=) n.606G= c.75G= (p.Glu25=) n.599G= n.559G= | |
1 | g.244863933C>G | CA1486813 | HNRNPU | c.53G>C c.375G>C (p.Glu125Asp) n.560G>C c.159G>C (p.Glu53Asp) n.606G>C c.75G>C (p.Glu25Asp) n.599G>C n.559G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863933C>T | CA1486812 | HNRNPU | c.53G>A c.375G>A (p.Glu125=) n.560G>A c.159G>A (p.Glu53=) n.606G>A c.75G>A (p.Glu25=) n.599G>A n.559G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863933_244863934delinsCT | CA1231007513 | HNRNPU | c.52_53delinsAG c.374_375delinsAG (p.Glu125=) n.559_560delinsAG c.158_159delinsAG (p.Glu53=) n.605_606delinsAG c.74_75delinsAG (p.Glu25=) n.598_599delinsAG n.558_559delinsAG | |
1 | g.244863933_244863934delinsGG | CA916082166 | HNRNPU | c.52_53delinsCC c.374_375delinsCC (p.Glu125Ala) n.559_560delinsCC c.158_159delinsCC (p.Glu53Ala) n.605_606delinsCC c.74_75delinsCC (p.Glu25Ala) n.598_599delinsCC n.558_559delinsCC | ClinVar dbSNP |
1 | g.244863934T>A | CA345497263 | HNRNPU | c.52A>T c.374A>T (p.Glu125Val) n.559A>T c.158A>T (p.Glu53Val) n.605A>T c.74A>T (p.Glu25Val) n.598A>T n.558A>T | |
1 | g.244863934T>C | CA345497264 | HNRNPU | c.52A>G c.374A>G (p.Glu125Gly) n.559A>G c.158A>G (p.Glu53Gly) n.605A>G c.74A>G (p.Glu25Gly) n.598A>G n.558A>G | |
1 | g.244863934T>G | CA1486814 | HNRNPU | c.52A>C c.374A>C (p.Glu125Ala) n.559A>C c.158A>C (p.Glu53Ala) n.605A>C c.74A>C (p.Glu25Ala) n.598A>C n.558A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863934T= | CA1143373646 | HNRNPU | c.52A= c.374A= (p.Glu125=) n.559A= c.158A= (p.Glu53=) n.605A= c.74A= (p.Glu25=) n.598A= n.558A= | |
1 | g.244863935C>A | CA345497265 | HNRNPU | c.51G>T c.373G>T (p.Glu125Ter) n.558G>T c.157G>T (p.Glu53Ter) n.604G>T c.73G>T (p.Glu25Ter) n.597G>T n.557G>T | |
1 | g.244863935C>G | CA345497267 | HNRNPU | c.51G>C c.373G>C (p.Glu125Gln) n.558G>C c.157G>C (p.Glu53Gln) n.604G>C c.73G>C (p.Glu25Gln) n.597G>C n.557G>C | |
1 | g.244863935C>T | CA345497266 | HNRNPU | c.51G>A c.373G>A (p.Glu125Lys) n.558G>A c.157G>A (p.Glu53Lys) n.604G>A c.73G>A (p.Glu25Lys) n.597G>A n.557G>A | |
1 | g.244863936C>A | CA345497268 | HNRNPU | c.50G>T c.372G>T (p.Glu124Asp) n.557G>T c.156G>T (p.Glu52Asp) n.603G>T c.72G>T (p.Glu24Asp) n.596G>T n.556G>T | |
1 | g.244863936C>G | CA345497269 | HNRNPU | c.50G>C c.372G>C (p.Glu124Asp) n.557G>C c.156G>C (p.Glu52Asp) n.603G>C c.72G>C (p.Glu24Asp) n.596G>C n.556G>C | |
1 | g.244863936C>T | CA424403350 | HNRNPU | c.50G>A c.372G>A (p.Glu124=) n.557G>A c.156G>A (p.Glu52=) n.603G>A c.72G>A (p.Glu24=) n.596G>A n.556G>A | |
1 | g.244863937T>A | CA345497270 | HNRNPU | c.49A>T c.371A>T (p.Glu124Val) n.556A>T c.155A>T (p.Glu52Val) n.602A>T c.71A>T (p.Glu24Val) n.595A>T n.555A>T | |
1 | g.244863937T>C | CA345497272 | HNRNPU | c.49A>G c.371A>G (p.Glu124Gly) n.556A>G c.155A>G (p.Glu52Gly) n.602A>G c.71A>G (p.Glu24Gly) n.595A>G n.555A>G | |
1 | g.244863937T>G | CA345497271 | HNRNPU | c.49A>C c.371A>C (p.Glu124Ala) n.556A>C c.155A>C (p.Glu52Ala) n.602A>C c.71A>C (p.Glu24Ala) n.595A>C n.555A>C | |
1 | g.244863938C>A | CA345497273 | HNRNPU | c.48G>T c.370G>T (p.Glu124Ter) n.555G>T c.154G>T (p.Glu52Ter) n.601G>T c.70G>T (p.Glu24Ter) n.594G>T n.554G>T | |
1 | g.244863938C= | CA1231007516 | HNRNPU | c.48G= c.370G= (p.Glu124=) n.555G= c.154G= (p.Glu52=) n.601G= c.70G= (p.Glu24=) n.594G= n.554G= | |
1 | g.244863938C>G | CA345497274 | HNRNPU | c.48G>C c.370G>C (p.Glu124Gln) n.555G>C c.154G>C (p.Glu52Gln) n.601G>C c.70G>C (p.Glu24Gln) n.594G>C n.554G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863938C>T | CA345497275 | HNRNPU | c.48G>A c.370G>A (p.Glu124Lys) n.555G>A c.154G>A (p.Glu52Lys) n.601G>A c.70G>A (p.Glu24Lys) n.594G>A n.554G>A | |
1 | g.244863938_244863980delinsCCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTT | CA1231007515 | HNRNPU | c.6_48delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG c.328_370delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn110=) n.513_555delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG c.112_154delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn38=) n.559_601delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG c.28_70delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn10=) n.552_594delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG n.512_554delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG | |
1 | g.244863939C>A | CA345497276 | HNRNPU | c.47G>T c.369G>T (p.Glu123Asp) n.554G>T c.153G>T (p.Glu51Asp) n.600G>T c.69G>T (p.Glu23Asp) n.593G>T n.553G>T | gnomAD v4 |
1 | g.244863939C= | CA1231007517 | HNRNPU | c.47G= c.369G= (p.Glu123=) n.554G= c.153G= (p.Glu51=) n.600G= c.69G= (p.Glu23=) n.593G= n.553G= | |
1 | g.244863939C>G | CA1486816 | HNRNPU | c.47G>C c.369G>C (p.Glu123Asp) n.554G>C c.153G>C (p.Glu51Asp) n.600G>C c.69G>C (p.Glu23Asp) n.593G>C n.553G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863939C>T | CA424403359 | HNRNPU | c.47G>A c.369G>A (p.Glu123=) n.554G>A c.153G>A (p.Glu51=) n.600G>A c.69G>A (p.Glu23=) n.593G>A n.553G>A | COSMIC COSMIC |
1 | g.244863945_244863986del | CA1486815 | HNRNPU | c.328_369del (p.Asn110_Glu123del) n.513_554del c.112_153del (p.Asn38_Glu51del) n.559_600del c.28_69del (p.Asn10_Glu23del) n.552_593del n.512_553del | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863940T>A | CA345497277 | HNRNPU | c.46A>T c.368A>T (p.Glu123Val) n.553A>T c.152A>T (p.Glu51Val) n.599A>T c.68A>T (p.Glu23Val) n.592A>T n.552A>T | |
1 | g.244863940T>C | CA345497278 | HNRNPU | c.46A>G c.368A>G (p.Glu123Gly) n.553A>G c.152A>G (p.Glu51Gly) n.599A>G c.68A>G (p.Glu23Gly) n.592A>G n.552A>G | dbSNP |
1 | g.244863940T>G | CA345497279 | HNRNPU | c.46A>C c.368A>C (p.Glu123Ala) n.553A>C c.152A>C (p.Glu51Ala) n.599A>C c.68A>C (p.Glu23Ala) n.592A>C n.552A>C | |
1 | g.244863941C>A | CA345497280 | HNRNPU | c.45G>T c.367G>T (p.Glu123Ter) n.552G>T c.151G>T (p.Glu51Ter) n.598G>T c.67G>T (p.Glu23Ter) n.591G>T n.551G>T | |
1 | g.244863941C>G | CA345497281 | HNRNPU | c.45G>C c.367G>C (p.Glu123Gln) n.552G>C c.151G>C (p.Glu51Gln) n.598G>C c.67G>C (p.Glu23Gln) n.591G>C n.551G>C | |
1 | g.244863941C>T | CA345497282 | HNRNPU | c.45G>A c.367G>A (p.Glu123Lys) n.552G>A c.151G>A (p.Glu51Lys) n.598G>A c.67G>A (p.Glu23Lys) n.591G>A n.551G>A | |
1 | g.244863942C>A | CA345497283 | HNRNPU | c.44G>T c.366G>T (p.Glu122Asp) n.551G>T c.150G>T (p.Glu50Asp) n.597G>T c.66G>T (p.Glu22Asp) n.590G>T n.550G>T | |
1 | g.244863942C>G | CA345497284 | HNRNPU | c.44G>C c.366G>C (p.Glu122Asp) n.551G>C c.150G>C (p.Glu50Asp) n.597G>C c.66G>C (p.Glu22Asp) n.590G>C n.550G>C | |
1 | g.244863942C>T | CA424403369 | HNRNPU | c.44G>A c.366G>A (p.Glu122=) n.551G>A c.150G>A (p.Glu50=) n.597G>A c.66G>A (p.Glu22=) n.590G>A n.550G>A | |
1 | g.244863943T>A | CA345497285 | HNRNPU | c.43A>T c.365A>T (p.Glu122Val) n.550A>T c.149A>T (p.Glu50Val) n.596A>T c.65A>T (p.Glu22Val) n.589A>T n.549A>T | |
1 | g.244863943T>C | CA345497286 | HNRNPU | c.43A>G c.365A>G (p.Glu122Gly) n.550A>G c.149A>G (p.Glu50Gly) n.596A>G c.65A>G (p.Glu22Gly) n.589A>G n.549A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863943T>G | CA345497287 | HNRNPU | c.43A>C c.365A>C (p.Glu122Ala) n.550A>C c.149A>C (p.Glu50Ala) n.596A>C c.65A>C (p.Glu22Ala) n.589A>C n.549A>C | |
1 | g.244863943T= | CA1231007518 | HNRNPU | c.43A= c.365A= (p.Glu122=) n.550A= c.149A= (p.Glu50=) n.596A= c.65A= (p.Glu22=) n.589A= n.549A= | |
1 | g.244863944C>A | CA345497288 | HNRNPU | c.42G>T c.364G>T (p.Glu122Ter) n.549G>T c.148G>T (p.Glu50Ter) n.595G>T c.64G>T (p.Glu22Ter) n.588G>T n.548G>T | |
1 | g.244863944C= | CA1231007519 | HNRNPU | c.42G= c.364G= (p.Glu122=) n.549G= c.148G= (p.Glu50=) n.595G= c.64G= (p.Glu22=) n.588G= n.548G= | |
1 | g.244863944C>G | CA345497289 | HNRNPU | c.42G>C c.364G>C (p.Glu122Gln) n.549G>C c.148G>C (p.Glu50Gln) n.595G>C c.64G>C (p.Glu22Gln) n.588G>C n.548G>C | dbSNP |
1 | g.244863944C>T | CA345497290 | HNRNPU | c.42G>A c.364G>A (p.Glu122Lys) n.549G>A c.148G>A (p.Glu50Lys) n.595G>A c.64G>A (p.Glu22Lys) n.588G>A n.548G>A | |
1 | g.244863945C>A | CA345497291 | HNRNPU | c.41G>T c.363G>T (p.Met121Ile) n.548G>T c.147G>T (p.Met49Ile) n.594G>T c.63G>T (p.Met21Ile) n.587G>T n.547G>T | |
1 | g.244863945C>G | CA345497292 | HNRNPU | c.41G>C c.363G>C (p.Met121Ile) n.548G>C c.147G>C (p.Met49Ile) n.594G>C c.63G>C (p.Met21Ile) n.587G>C n.547G>C | |
1 | g.244863945C>T | CA345497293 | HNRNPU | c.41G>A c.363G>A (p.Met121Ile) n.548G>A c.147G>A (p.Met49Ile) n.594G>A c.63G>A (p.Met21Ile) n.587G>A n.547G>A | |
1 | g.244863946A>C | CA345497294 | HNRNPU | c.40T>G c.362T>G (p.Met121Arg) n.547T>G c.146T>G (p.Met49Arg) n.593T>G c.62T>G (p.Met21Arg) n.586T>G n.546T>G | gnomAD v4 |
1 | g.244863946A>G | CA345497295 | HNRNPU | c.40T>C c.362T>C (p.Met121Thr) n.547T>C c.146T>C (p.Met49Thr) n.593T>C c.62T>C (p.Met21Thr) n.586T>C n.546T>C | gnomAD v4 |
1 | g.244863946A>T | CA345497296 | HNRNPU | c.40T>A c.362T>A (p.Met121Lys) n.547T>A c.146T>A (p.Met49Lys) n.593T>A c.62T>A (p.Met21Lys) n.586T>A n.546T>A | |
1 | g.244863947T>A | CA345497297 | HNRNPU | c.39A>T c.361A>T (p.Met121Leu) n.546A>T c.145A>T (p.Met49Leu) n.592A>T c.61A>T (p.Met21Leu) n.585A>T n.545A>T | dbSNP gnomAD v4 |
1 | g.244863947T>C | CA345497299 | HNRNPU | c.39A>G c.361A>G (p.Met121Val) n.546A>G c.145A>G (p.Met49Val) n.592A>G c.61A>G (p.Met21Val) n.585A>G n.545A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863947T>G | CA345497298 | HNRNPU | c.39A>C c.361A>C (p.Met121Leu) n.546A>C c.145A>C (p.Met49Leu) n.592A>C c.61A>C (p.Met21Leu) n.585A>C n.545A>C | |
1 | g.244863947T= | CA1231007520 | HNRNPU | c.39A= c.361A= (p.Met121=) n.546A= c.145A= (p.Met49=) n.592A= c.61A= (p.Met21=) n.585A= n.545A= | |
1 | g.244863948C>A | CA424403389 | HNRNPU | c.38G>T c.360G>T (p.Pro120=) n.545G>T c.144G>T (p.Pro48=) n.591G>T c.60G>T (p.Pro20=) n.584G>T n.544G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863948C= | CA1231007521 | HNRNPU | c.38G= c.360G= (p.Pro120=) n.545G= c.144G= (p.Pro48=) n.591G= c.60G= (p.Pro20=) n.584G= n.544G= | |
1 | g.244863948C>G | CA424403391 | HNRNPU | c.38G>C c.360G>C (p.Pro120=) n.545G>C c.144G>C (p.Pro48=) n.591G>C c.60G>C (p.Pro20=) n.584G>C n.544G>C | |
1 | g.244863948C>T | CA424403393 | HNRNPU | c.38G>A c.360G>A (p.Pro120=) n.545G>A c.144G>A (p.Pro48=) n.591G>A c.60G>A (p.Pro20=) n.584G>A n.544G>A | ClinVar |
1 | g.244863949G>A | CA345497300 | HNRNPU | c.37C>T c.359C>T (p.Pro120Leu) n.544C>T c.143C>T (p.Pro48Leu) n.590C>T c.59C>T (p.Pro20Leu) n.583C>T n.543C>T | gnomAD v4 |
1 | g.244863949G>C | CA345497301 | HNRNPU | c.37C>G c.359C>G (p.Pro120Arg) n.544C>G c.143C>G (p.Pro48Arg) n.590C>G c.59C>G (p.Pro20Arg) n.583C>G n.543C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.244863949G= | CA1231007522 | HNRNPU | c.37C= c.359C= (p.Pro120=) n.544C= c.143C= (p.Pro48=) n.590C= c.59C= (p.Pro20=) n.583C= n.543C= | |
1 | g.244863949G>T | CA345497302 | HNRNPU | c.37C>A c.359C>A (p.Pro120Gln) n.544C>A c.143C>A (p.Pro48Gln) n.590C>A c.59C>A (p.Pro20Gln) n.583C>A n.543C>A | |
1 | g.244863950G>A | CA345497303 | HNRNPU | c.36C>T c.358C>T (p.Pro120Ser) n.543C>T c.142C>T (p.Pro48Ser) n.589C>T c.58C>T (p.Pro20Ser) n.582C>T n.542C>T | |
1 | g.244863950G>C | CA345497304 | HNRNPU | c.36C>G c.358C>G (p.Pro120Ala) n.543C>G c.142C>G (p.Pro48Ala) n.589C>G c.58C>G (p.Pro20Ala) n.582C>G n.542C>G | |
1 | g.244863950G>T | CA345497305 | HNRNPU | c.36C>A c.358C>A (p.Pro120Thr) n.543C>A c.142C>A (p.Pro48Thr) n.589C>A c.58C>A (p.Pro20Thr) n.582C>A n.542C>A | gnomAD v4 |
1 | g.244863951G>A | CA424403405 | HNRNPU | c.35C>T c.357C>T (p.Gly119=) n.542C>T c.141C>T (p.Gly47=) n.588C>T c.57C>T (p.Gly19=) n.581C>T n.541C>T | |
1 | g.244863951G>C | CA424403404 | HNRNPU | c.35C>G c.357C>G (p.Gly119=) n.542C>G c.141C>G (p.Gly47=) n.588C>G c.57C>G (p.Gly19=) n.581C>G n.541C>G | |
1 | g.244863951G>T | CA424403403 | HNRNPU | c.35C>A c.357C>A (p.Gly119=) n.542C>A c.141C>A (p.Gly47=) n.588C>A c.57C>A (p.Gly19=) n.581C>A n.541C>A | |
1 | g.244863952C>A | CA345497306 | HNRNPU | c.34G>T c.356G>T (p.Gly119Val) n.541G>T c.140G>T (p.Gly47Val) n.587G>T c.56G>T (p.Gly19Val) n.580G>T n.540G>T | |
1 | g.244863952C>G | CA345497307 | HNRNPU | c.34G>C c.356G>C (p.Gly119Ala) n.541G>C c.140G>C (p.Gly47Ala) n.587G>C c.56G>C (p.Gly19Ala) n.580G>C n.540G>C | |
1 | g.244863952C>T | CA345497308 | HNRNPU | c.34G>A c.356G>A (p.Gly119Asp) n.541G>A c.140G>A (p.Gly47Asp) n.587G>A c.56G>A (p.Gly19Asp) n.580G>A n.540G>A | |
1 | g.244863953C>A | CA345497309 | HNRNPU | c.33G>T c.355G>T (p.Gly119Cys) n.540G>T c.139G>T (p.Gly47Cys) n.586G>T c.55G>T (p.Gly19Cys) n.579G>T n.539G>T | COSMIC COSMIC |
1 | g.244863953C>G | CA345497310 | HNRNPU | c.33G>C c.355G>C (p.Gly119Arg) n.540G>C c.139G>C (p.Gly47Arg) n.586G>C c.55G>C (p.Gly19Arg) n.579G>C n.539G>C | gnomAD v4 COSMIC COSMIC |
1 | g.244863953C>T | CA345497311 | HNRNPU | c.33G>A c.355G>A (p.Gly119Ser) n.540G>A c.139G>A (p.Gly47Ser) n.586G>A c.55G>A (p.Gly19Ser) n.579G>A n.539G>A | ClinVar |
1 | g.244863954C>A | CA1486817 | HNRNPU | c.32G>T c.354G>T (p.Ser118=) n.539G>T c.138G>T (p.Ser46=) n.585G>T c.54G>T (p.Ser18=) n.578G>T n.538G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863954C= | CA1231007523 | HNRNPU | c.32G= c.354G= (p.Ser118=) n.539G= c.138G= (p.Ser46=) n.585G= c.54G= (p.Ser18=) n.578G= n.538G= | |
1 | g.244863954C>G | CA424403419 | HNRNPU | c.32G>C c.354G>C (p.Ser118=) n.539G>C c.138G>C (p.Ser46=) n.585G>C c.54G>C (p.Ser18=) n.578G>C n.538G>C | gnomAD v4 |
1 | g.244863954C>T | CA424403422 | HNRNPU | c.32G>A c.354G>A (p.Ser118=) n.539G>A c.138G>A (p.Ser46=) n.585G>A c.54G>A (p.Ser18=) n.578G>A n.538G>A | |
1 | g.244863955G>A | CA345497312 | HNRNPU | c.31C>T c.353C>T (p.Ser118Leu) n.538C>T c.137C>T (p.Ser46Leu) n.584C>T c.53C>T (p.Ser18Leu) n.577C>T n.537C>T | |
1 | g.244863955G>C | CA345497313 | HNRNPU | c.31C>G c.353C>G (p.Ser118Trp) n.538C>G c.137C>G (p.Ser46Trp) n.584C>G c.53C>G (p.Ser18Trp) n.577C>G n.537C>G | COSMIC COSMIC |
1 | g.244863955G= | CA1231007524 | HNRNPU | c.31C= c.353C= (p.Ser118=) n.538C= c.137C= (p.Ser46=) n.584C= c.53C= (p.Ser18=) n.577C= n.537C= | |
1 | g.244863955G>T | CA16603678 | HNRNPU | c.31C>A c.353C>A (p.Ser118Ter) n.538C>A c.137C>A (p.Ser46Ter) n.584C>A c.53C>A (p.Ser18Ter) n.577C>A n.537C>A | ClinVar dbSNP |
1 | g.244863956_244863973del | CA2573132983 | HNRNPU | c.14_31del c.336_353del (p.Ala113_Ser118del) n.521_538del c.120_137del (p.Ala41_Ser46del) n.567_584del c.36_53del (p.Ala13_Ser18del) n.560_577del n.520_537del | ClinVar dbSNP |
1 | g.244863956A= | CA1146316102 | HNRNPU | c.30T= c.352T= (p.Ser118=) n.537T= c.136T= (p.Ser46=) n.583T= c.52T= (p.Ser18=) n.576T= n.536T= | |
1 | g.244863956A>C | CA345497314 | HNRNPU | c.30T>G c.352T>G (p.Ser118Ala) n.537T>G c.136T>G (p.Ser46Ala) n.583T>G c.52T>G (p.Ser18Ala) n.576T>G n.536T>G | |
1 | g.244863956A>G | CA1486818 | HNRNPU | c.30T>C c.352T>C (p.Ser118Pro) n.537T>C c.136T>C (p.Ser46Pro) n.583T>C c.52T>C (p.Ser18Pro) n.576T>C n.536T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863956A>T | CA345497315 | HNRNPU | c.30T>A c.352T>A (p.Ser118Thr) n.537T>A c.136T>A (p.Ser46Thr) n.583T>A c.52T>A (p.Ser18Thr) n.576T>A n.536T>A | |
1 | g.244863957G>A | CA424403432 | HNRNPU | c.29C>T c.351C>T (p.Asp117=) n.536C>T c.135C>T (p.Asp45=) n.582C>T c.51C>T (p.Asp17=) n.575C>T n.535C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863957G>C | CA345497316 | HNRNPU | c.29C>G c.351C>G (p.Asp117Glu) n.536C>G c.135C>G (p.Asp45Glu) n.582C>G c.51C>G (p.Asp17Glu) n.575C>G n.535C>G | gnomAD v4 |
1 | g.244863957G= | CA1231007525 | HNRNPU | c.29C= c.351C= (p.Asp117=) n.536C= c.135C= (p.Asp45=) n.582C= c.51C= (p.Asp17=) n.575C= n.535C= | |
1 | g.244863957G>T | CA345497317 | HNRNPU | c.29C>A c.351C>A (p.Asp117Glu) n.536C>A c.135C>A (p.Asp45Glu) n.582C>A c.51C>A (p.Asp17Glu) n.575C>A n.535C>A | |
1 | g.244863958_244863973del | CA2580063540 | HNRNPU | c.14_29del c.336_351del (p.Ala113ArgfsTer?) n.521_536del c.120_135del (p.Ala41ArgfsTer?) n.567_582del c.36_51del (p.Ala13ArgfsTer?) n.560_575del n.520_535del | ClinVar |
1 | g.244863958T>A | CA345497318 | HNRNPU | c.28A>T c.350A>T (p.Asp117Val) n.535A>T c.134A>T (p.Asp45Val) n.581A>T c.50A>T (p.Asp17Val) n.574A>T n.534A>T | |
1 | g.244863958T>C | CA1486819 | HNRNPU | c.28A>G c.350A>G (p.Asp117Gly) n.535A>G c.134A>G (p.Asp45Gly) n.581A>G c.50A>G (p.Asp17Gly) n.574A>G n.534A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863958T>G | CA345497319 | HNRNPU | c.28A>C c.350A>C (p.Asp117Ala) n.535A>C c.134A>C (p.Asp45Ala) n.581A>C c.50A>C (p.Asp17Ala) n.574A>C n.534A>C | dbSNP gnomAD v2 |
1 | g.244863958T= | CA1231007526 | HNRNPU | c.28A= c.350A= (p.Asp117=) n.535A= c.134A= (p.Asp45=) n.581A= c.50A= (p.Asp17=) n.574A= n.534A= | |
1 | g.244863959C>A | CA345497320 | HNRNPU | c.27G>T c.349G>T (p.Asp117Tyr) n.534G>T c.133G>T (p.Asp45Tyr) n.580G>T c.49G>T (p.Asp17Tyr) n.573G>T n.533G>T | gnomAD v4 |
1 | g.244863959C= | CA1231007527 | HNRNPU | c.27G= c.349G= (p.Asp117=) n.534G= c.133G= (p.Asp45=) n.580G= c.49G= (p.Asp17=) n.573G= n.533G= | |
1 | g.244863959C>G | CA1486820 | HNRNPU | c.27G>C c.349G>C (p.Asp117His) n.534G>C c.133G>C (p.Asp45His) n.580G>C c.49G>C (p.Asp17His) n.573G>C n.533G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863959C>T | CA345497321 | HNRNPU | c.27G>A c.349G>A (p.Asp117Asn) n.534G>A c.133G>A (p.Asp45Asn) n.580G>A c.49G>A (p.Asp17Asn) n.573G>A n.533G>A | gnomAD v4 |
1 | g.244863960G>A | CA424403438 | HNRNPU | c.26C>T c.348C>T (p.Ala116=) n.533C>T c.132C>T (p.Ala44=) n.579C>T c.48C>T (p.Ala16=) n.572C>T n.532C>T | gnomAD v4 |
1 | g.244863960G>C | CA424403439 | HNRNPU | c.26C>G c.348C>G (p.Ala116=) n.533C>G c.132C>G (p.Ala44=) n.579C>G c.48C>G (p.Ala16=) n.572C>G n.532C>G | |
1 | g.244863960G>T | CA424403440 | HNRNPU | c.26C>A c.348C>A (p.Ala116=) n.533C>A c.132C>A (p.Ala44=) n.579C>A c.48C>A (p.Ala16=) n.572C>A n.532C>A | |
1 | g.244863961G>A | CA345497324 | HNRNPU | c.25C>T c.347C>T (p.Ala116Val) n.532C>T c.131C>T (p.Ala44Val) n.578C>T c.47C>T (p.Ala16Val) n.571C>T n.531C>T | ClinVar dbSNP |
1 | g.244863961G>C | CA345497323 | HNRNPU | c.25C>G c.347C>G (p.Ala116Gly) n.532C>G c.131C>G (p.Ala44Gly) n.578C>G c.47C>G (p.Ala16Gly) n.571C>G n.531C>G | gnomAD v4 |
1 | g.244863961G= | CA1231007528 | HNRNPU | c.25C= c.347C= (p.Ala116=) n.532C= c.131C= (p.Ala44=) n.578C= c.47C= (p.Ala16=) n.571C= n.531C= | |
1 | g.244863961G>T | CA345497322 | HNRNPU | c.25C>A c.347C>A (p.Ala116Asp) n.532C>A c.131C>A (p.Ala44Asp) n.578C>A c.47C>A (p.Ala16Asp) n.571C>A n.531C>A | |
1 | g.244863962C>A | CA345497327 | HNRNPU | c.24G>T c.346G>T (p.Ala116Ser) n.531G>T c.130G>T (p.Ala44Ser) n.577G>T c.46G>T (p.Ala16Ser) n.570G>T n.530G>T | |
1 | g.244863962C>G | CA345497325 | HNRNPU | c.24G>C c.346G>C (p.Ala116Pro) n.531G>C c.130G>C (p.Ala44Pro) n.577G>C c.46G>C (p.Ala16Pro) n.570G>C n.530G>C | dbSNP COSMIC COSMIC |
1 | g.244863962C>T | CA345497326 | HNRNPU | c.24G>A c.346G>A (p.Ala116Thr) n.531G>A c.130G>A (p.Ala44Thr) n.577G>A c.46G>A (p.Ala16Thr) n.570G>A n.530G>A | |
1 | g.244863963C>A | CA424403444 | HNRNPU | c.23G>T c.345G>T (p.Ala115=) n.530G>T c.129G>T (p.Ala43=) n.576G>T c.45G>T (p.Ala15=) n.569G>T n.529G>T | |
1 | g.244863963C>G | CA424403445 | HNRNPU | c.23G>C c.345G>C (p.Ala115=) n.530G>C c.129G>C (p.Ala43=) n.576G>C c.45G>C (p.Ala15=) n.569G>C n.529G>C | |
1 | g.244863963C>T | CA424403448 | HNRNPU | c.23G>A c.345G>A (p.Ala115=) n.530G>A c.129G>A (p.Ala43=) n.576G>A c.45G>A (p.Ala15=) n.569G>A n.529G>A | |
1 | g.244863964G>A | CA345497328 | HNRNPU | c.22C>T c.344C>T (p.Ala115Val) n.529C>T c.128C>T (p.Ala43Val) n.575C>T c.44C>T (p.Ala15Val) n.568C>T n.528C>T | dbSNP |
1 | g.244863964G>C | CA345497329 | HNRNPU | c.22C>G c.344C>G (p.Ala115Gly) n.529C>G c.128C>G (p.Ala43Gly) n.575C>G c.44C>G (p.Ala15Gly) n.568C>G n.528C>G | |
1 | g.244863964G= | CA1231007529 | HNRNPU | c.22C= c.344C= (p.Ala115=) n.529C= c.128C= (p.Ala43=) n.575C= c.44C= (p.Ala15=) n.568C= n.528C= | |
1 | g.244863964G>T | CA345497330 | HNRNPU | c.22C>A c.344C>A (p.Ala115Glu) n.529C>A c.128C>A (p.Ala43Glu) n.575C>A c.44C>A (p.Ala15Glu) n.568C>A n.528C>A | |
1 | g.244863965C>A | CA345497333 | HNRNPU | c.21G>T c.343G>T (p.Ala115Ser) n.528G>T c.127G>T (p.Ala43Ser) n.574G>T c.43G>T (p.Ala15Ser) n.567G>T n.527G>T | |
1 | g.244863965C>G | CA345497332 | HNRNPU | c.21G>C c.343G>C (p.Ala115Pro) n.528G>C c.127G>C (p.Ala43Pro) n.574G>C c.43G>C (p.Ala15Pro) n.567G>C n.527G>C | |
1 | g.244863965C>T | CA345497331 | HNRNPU | c.21G>A c.343G>A (p.Ala115Thr) n.528G>A c.127G>A (p.Ala43Thr) n.574G>A c.43G>A (p.Ala15Thr) n.567G>A n.527G>A | |
1 | g.244863969del | CA2748454221 | HNRNPU | c.21del c.343del (p.Ala115ArgfsTer?) n.528del c.127del (p.Ala43ArgfsTer?) n.574del c.43del (p.Ala15ArgfsTer?) n.567del n.527del | |
1 | g.244863966C>A | CA424403453 | HNRNPU | c.20G>T c.342G>T (p.Gly114=) n.527G>T c.126G>T (p.Gly42=) n.573G>T c.42G>T (p.Gly14=) n.566G>T n.526G>T | |
1 | g.244863966C>G | CA424403454 | HNRNPU | c.20G>C c.342G>C (p.Gly114=) n.527G>C c.126G>C (p.Gly42=) n.573G>C c.42G>C (p.Gly14=) n.566G>C n.526G>C | |
1 | g.244863966C>T | CA424403455 | HNRNPU | c.20G>A c.342G>A (p.Gly114=) n.527G>A c.126G>A (p.Gly42=) n.573G>A c.42G>A (p.Gly14=) n.566G>A n.526G>A | |
1 | g.244863967C>A | CA345497334 | HNRNPU | c.19G>T c.341G>T (p.Gly114Val) n.526G>T c.125G>T (p.Gly42Val) n.572G>T c.41G>T (p.Gly14Val) n.565G>T n.525G>T | |
1 | g.244863967C>G | CA345497335 | HNRNPU | c.19G>C c.341G>C (p.Gly114Ala) n.526G>C c.125G>C (p.Gly42Ala) n.572G>C c.41G>C (p.Gly14Ala) n.565G>C n.525G>C | |
1 | g.244863967C>T | CA345497336 | HNRNPU | c.19G>A c.341G>A (p.Gly114Glu) n.526G>A c.125G>A (p.Gly42Glu) n.572G>A c.41G>A (p.Gly14Glu) n.565G>A n.525G>A | |
1 | g.244863968C>A | CA345497337 | HNRNPU | c.18G>T c.340G>T (p.Gly114Trp) n.525G>T c.124G>T (p.Gly42Trp) n.571G>T c.40G>T (p.Gly14Trp) n.564G>T n.524G>T | |
1 | g.244863968C>G | CA345497338 | HNRNPU | c.18G>C c.340G>C (p.Gly114Arg) n.525G>C c.124G>C (p.Gly42Arg) n.571G>C c.40G>C (p.Gly14Arg) n.564G>C n.524G>C | |
1 | g.244863968C>T | CA345497339 | HNRNPU | c.18G>A c.340G>A (p.Gly114Arg) n.525G>A c.124G>A (p.Gly42Arg) n.571G>A c.40G>A (p.Gly14Arg) n.564G>A n.524G>A | gnomAD v4 |
1 | g.244863969C>A | CA424403460 | HNRNPU | c.17G>T c.339G>T (p.Ala113=) n.524G>T c.123G>T (p.Ala41=) n.570G>T c.39G>T (p.Ala13=) n.563G>T n.523G>T | |
1 | g.244863969C= | CA1231007530 | HNRNPU | c.17G= c.339G= (p.Ala113=) n.524G= c.123G= (p.Ala41=) n.570G= c.39G= (p.Ala13=) n.563G= n.523G= | |
1 | g.244863969C>G | CA424403461 | HNRNPU | c.17G>C c.339G>C (p.Ala113=) n.524G>C c.123G>C (p.Ala41=) n.570G>C c.39G>C (p.Ala13=) n.563G>C n.523G>C | gnomAD v4 |
1 | g.244863969C>T | CA424403462 | HNRNPU | c.17G>A c.339G>A (p.Ala113=) n.524G>A c.123G>A (p.Ala41=) n.570G>A c.39G>A (p.Ala13=) n.563G>A n.523G>A | dbSNP |
1 | g.244863970G>A | CA345497342 | HNRNPU | c.16C>T c.338C>T (p.Ala113Val) n.523C>T c.122C>T (p.Ala41Val) n.569C>T c.38C>T (p.Ala13Val) n.562C>T n.522C>T | |
1 | g.244863970G>C | CA345497340 | HNRNPU | c.16C>G c.338C>G (p.Ala113Gly) n.523C>G c.122C>G (p.Ala41Gly) n.569C>G c.38C>G (p.Ala13Gly) n.562C>G n.522C>G | |
1 | g.244863970G>T | CA345497341 | HNRNPU | c.16C>A c.338C>A (p.Ala113Glu) n.523C>A c.122C>A (p.Ala41Glu) n.569C>A c.38C>A (p.Ala13Glu) n.562C>A n.522C>A | |
1 | g.244863971C>A | CA345497343 | HNRNPU | c.15G>T c.337G>T (p.Ala113Ser) n.522G>T c.121G>T (p.Ala41Ser) n.568G>T c.37G>T (p.Ala13Ser) n.561G>T n.521G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863971C= | CA1231007531 | HNRNPU | c.15G= c.337G= (p.Ala113=) n.522G= c.121G= (p.Ala41=) n.568G= c.37G= (p.Ala13=) n.561G= n.521G= | |
1 | g.244863971C>G | CA345497344 | HNRNPU | c.15G>C c.337G>C (p.Ala113Pro) n.522G>C c.121G>C (p.Ala41Pro) n.568G>C c.37G>C (p.Ala13Pro) n.561G>C n.521G>C | |
1 | g.244863971C>T | CA345497345 | HNRNPU | c.15G>A c.337G>A (p.Ala113Thr) n.522G>A c.121G>A (p.Ala41Thr) n.568G>A c.37G>A (p.Ala13Thr) n.561G>A n.521G>A | dbSNP gnomAD v2 gnomAD v4 |