Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31933682A= | CA1619369811 | C2 | c.329A= (p.Lys110=) c.146A= (p.Lys49=) c.515A= (p.Lys172=) c.10A= (p.Arg4=) c.110A= (p.Lys37=) n.235A= n.370A= c.119A= (p.Lys40=) c.109A= c.443-3637A= (n.443-3637A=) c.*228A= (n.*228A=) c.92A= (p.Lys31=) c.428A= (p.Lys143=) | |
6 | g.31933682A>C | CA363495895 | C2 | c.329A>C (p.Lys110Thr) c.146A>C (p.Lys49Thr) c.515A>C (p.Lys172Thr) c.10A>C (p.Arg4=) c.110A>C (p.Lys37Thr) n.235A>C n.370A>C c.119A>C (p.Lys40Thr) c.109A>C c.443-3637A>C (n.443-3637A>C) c.*228A>C (n.*228A>C) c.92A>C (p.Lys31Thr) c.428A>C (p.Lys143Thr) | |
6 | g.31933682A>G | CA363495897 | C2 | c.329A>G (p.Lys110Arg) c.146A>G (p.Lys49Arg) c.515A>G (p.Lys172Arg) c.10A>G (p.Arg4Gly) c.110A>G (p.Lys37Arg) n.235A>G n.370A>G c.119A>G (p.Lys40Arg) c.109A>G c.443-3637A>G (n.443-3637A>G) c.*228A>G (n.*228A>G) c.92A>G (p.Lys31Arg) c.428A>G (p.Lys143Arg) | dbSNP |
6 | g.31933682A>T | CA363495902 | C2 | c.329A>T (p.Lys110Met) c.146A>T (p.Lys49Met) c.515A>T (p.Lys172Met) c.10A>T (p.Arg4Trp) c.110A>T (p.Lys37Met) n.235A>T n.370A>T c.119A>T (p.Lys40Met) c.109A>T c.443-3637A>T (n.443-3637A>T) c.*228A>T (n.*228A>T) c.92A>T (p.Lys31Met) c.428A>T (p.Lys143Met) | |
6 | g.31933683G>A | CA363495904 | C2 | c.330G>A (p.Lys110=) c.147G>A (p.Lys49=) c.516G>A (p.Lys172=) c.11G>A (p.Arg4Lys) c.111G>A (p.Lys37=) n.236G>A n.371G>A c.120G>A (p.Lys40=) c.110G>A c.443-3636G>A (n.443-3636G>A) c.*229G>A (n.*229G>A) c.93G>A (p.Lys31=) c.429G>A (p.Lys143=) | |
6 | g.31933683G>C | CA363495908 | C2 | c.330G>C (p.Lys110Asn) c.147G>C (p.Lys49Asn) c.516G>C (p.Lys172Asn) c.11G>C (p.Arg4Thr) c.111G>C (p.Lys37Asn) n.236G>C n.371G>C c.120G>C (p.Lys40Asn) c.110G>C c.443-3636G>C (n.443-3636G>C) c.*229G>C (n.*229G>C) c.93G>C (p.Lys31Asn) c.429G>C (p.Lys143Asn) | |
6 | g.31933683G>T | CA363495912 | C2 | c.330G>T (p.Lys110Asn) c.147G>T (p.Lys49Asn) c.516G>T (p.Lys172Asn) c.11G>T (p.Arg4Met) c.111G>T (p.Lys37Asn) n.236G>T n.371G>T c.120G>T (p.Lys40Asn) c.110G>T c.443-3636G>T (n.443-3636G>T) c.*229G>T (n.*229G>T) c.93G>T (p.Lys31Asn) c.429G>T (p.Lys143Asn) | |
6 | g.31933684G>A | CA363495921 | C2 | c.331G>A (p.Val111Ile) c.148G>A (p.Val50Ile) c.517G>A (p.Val173Ile) c.12G>A (p.Arg4=) c.112G>A (p.Val38Ile) n.237G>A n.372G>A c.121G>A (p.Val41Ile) c.111G>A c.443-3635G>A (n.443-3635G>A) c.*230G>A (n.*230G>A) c.94G>A (p.Val32Ile) c.430G>A (p.Val144Ile) | ClinVar dbSNP gnomAD v4 |
6 | g.31933684G>C | CA363495915 | C2 | c.331G>C (p.Val111Leu) c.148G>C (p.Val50Leu) c.517G>C (p.Val173Leu) c.12G>C (p.Arg4Ser) c.112G>C (p.Val38Leu) n.237G>C n.372G>C c.121G>C (p.Val41Leu) c.111G>C c.443-3635G>C (n.443-3635G>C) c.*230G>C (n.*230G>C) c.94G>C (p.Val32Leu) c.430G>C (p.Val144Leu) | |
6 | g.31933684G>T | CA363495918 | C2 | c.331G>T (p.Val111Phe) c.148G>T (p.Val50Phe) c.517G>T (p.Val173Phe) c.12G>T (p.Arg4Ser) c.112G>T (p.Val38Phe) n.237G>T n.372G>T c.121G>T (p.Val41Phe) c.111G>T c.443-3635G>T (n.443-3635G>T) c.*230G>T (n.*230G>T) c.94G>T (p.Val32Phe) c.430G>T (p.Val144Phe) | |
6 | g.31933685T>A | CA363495922 | C2 | c.332T>A (p.Val111Asp) c.149T>A (p.Val50Asp) c.518T>A (p.Val173Asp) c.13T>A (p.Ser5Thr) c.113T>A (p.Val38Asp) n.238T>A n.373T>A c.122T>A (p.Val41Asp) c.112T>A c.443-3634T>A (n.443-3634T>A) c.*231T>A (n.*231T>A) c.95T>A (p.Val32Asp) c.431T>A (p.Val144Asp) | |
6 | g.31933685T>C | CA363495923 | C2 | c.332T>C (p.Val111Ala) c.149T>C (p.Val50Ala) c.518T>C (p.Val173Ala) c.13T>C (p.Ser5Pro) c.113T>C (p.Val38Ala) n.238T>C n.373T>C c.122T>C (p.Val41Ala) c.112T>C c.443-3634T>C (n.443-3634T>C) c.*231T>C (n.*231T>C) c.95T>C (p.Val32Ala) c.431T>C (p.Val144Ala) | |
6 | g.31933685T>G | CA363495924 | C2 | c.332T>G (p.Val111Gly) c.149T>G (p.Val50Gly) c.518T>G (p.Val173Gly) c.13T>G (p.Ser5Ala) c.113T>G (p.Val38Gly) n.238T>G n.373T>G c.122T>G (p.Val41Gly) c.112T>G c.443-3634T>G (n.443-3634T>G) c.*231T>G (n.*231T>G) c.95T>G (p.Val32Gly) c.431T>G (p.Val144Gly) | |
6 | g.31933686C>A | CA363495928 | C2 | c.333C>A (p.Val111=) c.150C>A (p.Val50=) c.519C>A (p.Val173=) c.14C>A (p.Ser5Tyr) c.114C>A (p.Val38=) n.239C>A n.374C>A c.123C>A (p.Val41=) c.113C>A c.443-3633C>A (n.443-3633C>A) c.*232C>A (n.*232C>A) c.96C>A (p.Val32=) c.432C>A (p.Val144=) | |
6 | g.31933686C>G | CA363495930 | C2 | c.333C>G (p.Val111=) c.150C>G (p.Val50=) c.519C>G (p.Val173=) c.14C>G (p.Ser5Cys) c.114C>G (p.Val38=) n.239C>G n.374C>G c.123C>G (p.Val41=) c.113C>G c.443-3633C>G (n.443-3633C>G) c.*232C>G (n.*232C>G) c.96C>G (p.Val32=) c.432C>G (p.Val144=) | gnomAD v4 |
6 | g.31933686C>T | CA363495933 | C2 | c.333C>T (p.Val111=) c.150C>T (p.Val50=) c.519C>T (p.Val173=) c.14C>T (p.Ser5Phe) c.114C>T (p.Val38=) n.239C>T n.374C>T c.123C>T (p.Val41=) c.113C>T c.443-3633C>T (n.443-3633C>T) c.*232C>T (n.*232C>T) c.96C>T (p.Val32=) c.432C>T (p.Val144=) | |
6 | g.31933687C>A | CA363495938 | C2 | c.334C>A (p.Arg112Ser) c.151C>A (p.Arg51Ser) c.520C>A (p.Arg174Ser) c.15C>A (p.Ser5=) c.115C>A (p.Arg39Ser) n.240C>A n.375C>A c.124C>A (p.Arg42Ser) c.114C>A c.443-3632C>A (n.443-3632C>A) c.*233C>A (n.*233C>A) c.97C>A (p.Arg33Ser) c.433C>A (p.Arg145Ser) | |
6 | g.31933687C= | CA1619369812 | C2 | c.334C= (p.Arg112=) c.151C= (p.Arg51=) c.520C= (p.Arg174=) c.15C= (p.Ser5=) c.115C= (p.Arg39=) n.240C= n.375C= c.124C= (p.Arg42=) c.114C= c.443-3632C= (n.443-3632C=) c.*233C= (n.*233C=) c.97C= (p.Arg33=) c.433C= (p.Arg145=) | |
6 | g.31933687C>G | CA363495941 | C2 | c.334C>G (p.Arg112Gly) c.151C>G (p.Arg51Gly) c.520C>G (p.Arg174Gly) c.15C>G (p.Ser5=) c.115C>G (p.Arg39Gly) n.240C>G n.375C>G c.124C>G (p.Arg42Gly) c.114C>G c.443-3632C>G (n.443-3632C>G) c.*233C>G (n.*233C>G) c.97C>G (p.Arg33Gly) c.433C>G (p.Arg145Gly) | gnomAD v4 |
6 | g.31933687C>T | CA3727417 | C2 | c.334C>T (p.Arg112Cys) c.151C>T (p.Arg51Cys) c.520C>T (p.Arg174Cys) c.15C>T (p.Ser5=) c.115C>T (p.Arg39Cys) n.240C>T n.375C>T c.124C>T (p.Arg42Cys) c.114C>T c.443-3632C>T (n.443-3632C>T) c.*233C>T (n.*233C>T) c.97C>T (p.Arg33Cys) c.433C>T (p.Arg145Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933688G>A | CA3727418 | C2 | c.335G>A (p.Arg112His) c.152G>A (p.Arg51His) c.521G>A (p.Arg174His) c.16G>A (p.Ala6Thr) c.116G>A (p.Arg39His) n.241G>A n.376G>A c.125G>A (p.Arg42His) c.115G>A c.443-3631G>A (n.443-3631G>A) c.*234G>A (n.*234G>A) c.98G>A (p.Arg33His) c.434G>A (p.Arg145His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933688G>C | CA363495951 | C2 | c.335G>C (p.Arg112Pro) c.152G>C (p.Arg51Pro) c.521G>C (p.Arg174Pro) c.16G>C (p.Ala6Pro) c.116G>C (p.Arg39Pro) n.241G>C n.376G>C c.125G>C (p.Arg42Pro) c.115G>C c.443-3631G>C (n.443-3631G>C) c.*234G>C (n.*234G>C) c.98G>C (p.Arg33Pro) c.434G>C (p.Arg145Pro) | |
6 | g.31933688G= | CA1619369813 | C2 | c.335G= (p.Arg112=) c.152G= (p.Arg51=) c.521G= (p.Arg174=) c.16G= (p.Ala6=) c.116G= (p.Arg39=) n.241G= n.376G= c.125G= (p.Arg42=) c.115G= c.443-3631G= (n.443-3631G=) c.*234G= (n.*234G=) c.98G= (p.Arg33=) c.434G= (p.Arg145=) | |
6 | g.31933688G>T | CA3727419 | C2 | c.335G>T (p.Arg112Leu) c.152G>T (p.Arg51Leu) c.521G>T (p.Arg174Leu) c.16G>T (p.Ala6Ser) c.116G>T (p.Arg39Leu) n.241G>T n.376G>T c.125G>T (p.Arg42Leu) c.115G>T c.443-3631G>T (n.443-3631G>T) c.*234G>T (n.*234G>T) c.98G>T (p.Arg33Leu) c.434G>T (p.Arg145Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933689C>A | CA363495963 | C2 | c.336C>A (p.Arg112=) c.153C>A (p.Arg51=) c.522C>A (p.Arg174=) c.17C>A (p.Ala6Asp) c.117C>A (p.Arg39=) n.242C>A n.377C>A c.126C>A (p.Arg42=) c.116C>A c.443-3630C>A (n.443-3630C>A) c.*235C>A (n.*235C>A) c.99C>A (p.Arg33=) c.435C>A (p.Arg145=) | |
6 | g.31933689C>G | CA363495966 | C2 | c.336C>G (p.Arg112=) c.153C>G (p.Arg51=) c.522C>G (p.Arg174=) c.17C>G (p.Ala6Gly) c.117C>G (p.Arg39=) n.242C>G n.377C>G c.126C>G (p.Arg42=) c.116C>G c.443-3630C>G (n.443-3630C>G) c.*235C>G (n.*235C>G) c.99C>G (p.Arg33=) c.435C>G (p.Arg145=) | |
6 | g.31933689C>T | CA363495958 | C2 | c.336C>T (p.Arg112=) c.153C>T (p.Arg51=) c.522C>T (p.Arg174=) c.17C>T (p.Ala6Val) c.117C>T (p.Arg39=) n.242C>T n.377C>T c.126C>T (p.Arg42=) c.116C>T c.443-3630C>T (n.443-3630C>T) c.*235C>T (n.*235C>T) c.99C>T (p.Arg33=) c.435C>T (p.Arg145=) | |
6 | g.31933690T>A | CA363495975 | C2 | c.337T>A (p.Tyr113Asn) c.154T>A (p.Tyr52Asn) c.523T>A (p.Tyr175Asn) c.18T>A (p.Ala6=) c.118T>A (p.Tyr40Asn) n.243T>A n.378T>A c.127T>A (p.Tyr43Asn) c.117T>A c.443-3629T>A (n.443-3629T>A) c.*236T>A (n.*236T>A) c.100T>A (p.Tyr34Asn) c.436T>A (p.Tyr146Asn) | |
6 | g.31933690T>C | CA363495970 | C2 | c.337T>C (p.Tyr113His) c.154T>C (p.Tyr52His) c.523T>C (p.Tyr175His) c.18T>C (p.Ala6=) c.118T>C (p.Tyr40His) n.243T>C n.378T>C c.127T>C (p.Tyr43His) c.117T>C c.443-3629T>C (n.443-3629T>C) c.*236T>C (n.*236T>C) c.100T>C (p.Tyr34His) c.436T>C (p.Tyr146His) | COSMIC |
6 | g.31933690T>G | CA363495972 | C2 | c.337T>G (p.Tyr113Asp) c.154T>G (p.Tyr52Asp) c.523T>G (p.Tyr175Asp) c.18T>G (p.Ala6=) c.118T>G (p.Tyr40Asp) n.243T>G n.378T>G c.127T>G (p.Tyr43Asp) c.117T>G c.443-3629T>G (n.443-3629T>G) c.*236T>G (n.*236T>G) c.100T>G (p.Tyr34Asp) c.436T>G (p.Tyr146Asp) | |
6 | g.31933691A= | CA1619369814 | C2 | c.338A= (p.Tyr113=) c.155A= (p.Tyr52=) c.524A= (p.Tyr175=) c.19A= (p.Ile7=) c.119A= (p.Tyr40=) n.244A= n.379A= c.128A= (p.Tyr43=) c.118A= c.443-3628A= (n.443-3628A=) c.*237A= (n.*237A=) c.101A= (p.Tyr34=) c.437A= (p.Tyr146=) | |
6 | g.31933691A>C | CA363495981 | C2 | c.338A>C (p.Tyr113Ser) c.155A>C (p.Tyr52Ser) c.524A>C (p.Tyr175Ser) c.19A>C (p.Ile7Leu) c.119A>C (p.Tyr40Ser) n.244A>C n.379A>C c.128A>C (p.Tyr43Ser) c.118A>C c.443-3628A>C (n.443-3628A>C) c.*237A>C (n.*237A>C) c.101A>C (p.Tyr34Ser) c.437A>C (p.Tyr146Ser) | gnomAD v4 |
6 | g.31933691A>G | CA3727420 | C2 | c.338A>G (p.Tyr113Cys) c.155A>G (p.Tyr52Cys) c.524A>G (p.Tyr175Cys) c.19A>G (p.Ile7Val) c.119A>G (p.Tyr40Cys) n.244A>G n.379A>G c.128A>G (p.Tyr43Cys) c.118A>G c.443-3628A>G (n.443-3628A>G) c.*237A>G (n.*237A>G) c.101A>G (p.Tyr34Cys) c.437A>G (p.Tyr146Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933691A>T | CA363495989 | C2 | c.338A>T (p.Tyr113Phe) c.155A>T (p.Tyr52Phe) c.524A>T (p.Tyr175Phe) c.19A>T (p.Ile7Phe) c.119A>T (p.Tyr40Phe) n.244A>T n.379A>T c.128A>T (p.Tyr43Phe) c.118A>T c.443-3628A>T (n.443-3628A>T) c.*237A>T (n.*237A>T) c.101A>T (p.Tyr34Phe) c.437A>T (p.Tyr146Phe) | |
6 | g.31933692T>A | CA363495994 | C2 | c.339T>A (p.Tyr113Ter) c.156T>A (p.Tyr52Ter) c.525T>A (p.Tyr175Ter) c.20T>A (p.Ile7Asn) c.120T>A (p.Tyr40Ter) n.245T>A n.380T>A c.129T>A (p.Tyr43Ter) c.119T>A c.443-3627T>A (n.443-3627T>A) c.*238T>A (n.*238T>A) c.102T>A (p.Tyr34Ter) c.438T>A (p.Tyr146Ter) | |
6 | g.31933692T>C | CA363495996 | C2 | c.339T>C (p.Tyr113=) c.156T>C (p.Tyr52=) c.525T>C (p.Tyr175=) c.20T>C (p.Ile7Thr) c.120T>C (p.Tyr40=) n.245T>C n.380T>C c.129T>C (p.Tyr43=) c.119T>C c.443-3627T>C (n.443-3627T>C) c.*238T>C (n.*238T>C) c.102T>C (p.Tyr34=) c.438T>C (p.Tyr146=) | |
6 | g.31933692T>G | CA363495997 | C2 | c.339T>G (p.Tyr113Ter) c.156T>G (p.Tyr52Ter) c.525T>G (p.Tyr175Ter) c.20T>G (p.Ile7Ser) c.120T>G (p.Tyr40Ter) n.245T>G n.380T>G c.129T>G (p.Tyr43Ter) c.119T>G c.443-3627T>G (n.443-3627T>G) c.*238T>G (n.*238T>G) c.102T>G (p.Tyr34Ter) c.438T>G (p.Tyr146Ter) | |
6 | g.31933693C>A | CA363495998 | C2 | c.340C>A (p.Arg114Ser) c.157C>A (p.Arg53Ser) c.526C>A (p.Arg176Ser) c.21C>A (p.Ile7=) c.121C>A (p.Arg41Ser) n.246C>A n.381C>A c.130C>A (p.Arg44Ser) c.120C>A c.443-3626C>A (n.443-3626C>A) c.*239C>A (n.*239C>A) c.103C>A (p.Arg35Ser) c.439C>A (p.Arg147Ser) | |
6 | g.31933693C= | CA1619369815 | C2 | c.340C= (p.Arg114=) c.157C= (p.Arg53=) c.526C= (p.Arg176=) c.21C= (p.Ile7=) c.121C= (p.Arg41=) n.246C= n.381C= c.130C= (p.Arg44=) c.120C= c.443-3626C= (n.443-3626C=) c.*239C= (n.*239C=) c.103C= (p.Arg35=) c.439C= (p.Arg147=) | |
6 | g.31933693C>G | CA363495999 | C2 | c.340C>G (p.Arg114Gly) c.157C>G (p.Arg53Gly) c.526C>G (p.Arg176Gly) c.21C>G (p.Ile7Met) c.121C>G (p.Arg41Gly) n.246C>G n.381C>G c.130C>G (p.Arg44Gly) c.120C>G c.443-3626C>G (n.443-3626C>G) c.*239C>G (n.*239C>G) c.103C>G (p.Arg35Gly) c.439C>G (p.Arg147Gly) | dbSNP gnomAD v2 |
6 | g.31933693C>T | CA3727421 | C2 | c.340C>T (p.Arg114Cys) c.157C>T (p.Arg53Cys) c.526C>T (p.Arg176Cys) c.21C>T (p.Ile7=) c.121C>T (p.Arg41Cys) n.246C>T n.381C>T c.130C>T (p.Arg44Cys) c.120C>T c.443-3626C>T (n.443-3626C>T) c.*239C>T (n.*239C>T) c.103C>T (p.Arg35Cys) c.439C>T (p.Arg147Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933694G>A | CA3727422 | C2 | c.341G>A (p.Arg114His) c.158G>A (p.Arg53His) c.527G>A (p.Arg176His) c.22G>A (p.Ala8Thr) c.122G>A (p.Arg41His) n.247G>A n.382G>A c.131G>A (p.Arg44His) c.121G>A c.443-3625G>A (n.443-3625G>A) c.*240G>A (n.*240G>A) c.104G>A (p.Arg35His) c.440G>A (p.Arg147His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.31933694G>C | CA363496004 | C2 | c.341G>C (p.Arg114Pro) c.158G>C (p.Arg53Pro) c.527G>C (p.Arg176Pro) c.22G>C (p.Ala8Pro) c.122G>C (p.Arg41Pro) n.247G>C n.382G>C c.131G>C (p.Arg44Pro) c.121G>C c.443-3625G>C (n.443-3625G>C) c.*240G>C (n.*240G>C) c.104G>C (p.Arg35Pro) c.440G>C (p.Arg147Pro) | |
6 | g.31933694G= | CA1619369816 | C2 | c.341G= (p.Arg114=) c.158G= (p.Arg53=) c.527G= (p.Arg176=) c.22G= (p.Ala8=) c.122G= (p.Arg41=) n.247G= n.382G= c.131G= (p.Arg44=) c.121G= c.443-3625G= (n.443-3625G=) c.*240G= (n.*240G=) c.104G= (p.Arg35=) c.440G= (p.Arg147=) | |
6 | g.31933694G>T | CA363496002 | C2 | c.341G>T (p.Arg114Leu) c.158G>T (p.Arg53Leu) c.527G>T (p.Arg176Leu) c.22G>T (p.Ala8Ser) c.122G>T (p.Arg41Leu) n.247G>T n.382G>T c.131G>T (p.Arg44Leu) c.121G>T c.443-3625G>T (n.443-3625G>T) c.*240G>T (n.*240G>T) c.104G>T (p.Arg35Leu) c.440G>T (p.Arg147Leu) | |
6 | g.31933695C>A | CA363496010 | C2 | c.342C>A (p.Arg114=) c.159C>A (p.Arg53=) c.528C>A (p.Arg176=) c.23C>A (p.Ala8Asp) c.123C>A (p.Arg41=) n.248C>A n.383C>A c.132C>A (p.Arg44=) c.122C>A c.443-3624C>A (n.443-3624C>A) c.*241C>A (n.*241C>A) c.105C>A (p.Arg35=) c.441C>A (p.Arg147=) | |
6 | g.31933695C= | CA1619369817 | C2 | c.342C= (p.Arg114=) c.159C= (p.Arg53=) c.528C= (p.Arg176=) c.23C= (p.Ala8=) c.123C= (p.Arg41=) n.248C= n.383C= c.132C= (p.Arg44=) c.122C= c.443-3624C= (n.443-3624C=) c.*241C= (n.*241C=) c.105C= (p.Arg35=) c.441C= (p.Arg147=) | |
6 | g.31933695C>G | CA363496012 | C2 | c.342C>G (p.Arg114=) c.159C>G (p.Arg53=) c.528C>G (p.Arg176=) c.23C>G (p.Ala8Gly) c.123C>G (p.Arg41=) n.248C>G n.383C>G c.132C>G (p.Arg44=) c.122C>G c.443-3624C>G (n.443-3624C>G) c.*241C>G (n.*241C>G) c.105C>G (p.Arg35=) c.441C>G (p.Arg147=) | |
6 | g.31933695C>T | CA136929009 | C2 | c.342C>T (p.Arg114=) c.159C>T (p.Arg53=) c.528C>T (p.Arg176=) c.23C>T (p.Ala8Val) c.123C>T (p.Arg41=) n.248C>T n.383C>T c.132C>T (p.Arg44=) c.122C>T c.443-3624C>T (n.443-3624C>T) c.*241C>T (n.*241C>T) c.105C>T (p.Arg35=) c.441C>T (p.Arg147=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933696T>A | CA363496016 | C2 | c.343T>A (p.Cys115Ser) c.160T>A (p.Cys54Ser) c.529T>A (p.Cys177Ser) c.24T>A (p.Ala8=) c.124T>A (p.Cys42Ser) n.249T>A n.384T>A c.133T>A (p.Cys45Ser) c.123T>A c.443-3623T>A (n.443-3623T>A) c.*242T>A (n.*242T>A) c.106T>A (p.Cys36Ser) c.442T>A (p.Cys148Ser) | |
6 | g.31933696T>C | CA363496019 | C2 | c.343T>C (p.Cys115Arg) c.160T>C (p.Cys54Arg) c.529T>C (p.Cys177Arg) c.24T>C (p.Ala8=) c.124T>C (p.Cys42Arg) n.249T>C n.384T>C c.133T>C (p.Cys45Arg) c.123T>C c.443-3623T>C (n.443-3623T>C) c.*242T>C (n.*242T>C) c.106T>C (p.Cys36Arg) c.442T>C (p.Cys148Arg) | |
6 | g.31933696T>G | CA363496026 | C2 | c.343T>G (p.Cys115Gly) c.160T>G (p.Cys54Gly) c.529T>G (p.Cys177Gly) c.24T>G (p.Ala8=) c.124T>G (p.Cys42Gly) n.249T>G n.384T>G c.133T>G (p.Cys45Gly) c.123T>G c.443-3623T>G (n.443-3623T>G) c.*242T>G (n.*242T>G) c.106T>G (p.Cys36Gly) c.442T>G (p.Cys148Gly) | |
6 | g.31933697G>A | CA363496033 | C2 | c.344G>A (p.Cys115Tyr) c.161G>A (p.Cys54Tyr) c.530G>A (p.Cys177Tyr) c.25G>A (p.Ala9Thr) c.125G>A (p.Cys42Tyr) n.250G>A n.385G>A c.134G>A (p.Cys45Tyr) c.124G>A c.443-3622G>A (n.443-3622G>A) c.*243G>A (n.*243G>A) c.107G>A (p.Cys36Tyr) c.443G>A (p.Cys148Tyr) | dbSNP |
6 | g.31933697G>C | CA363496035 | C2 | c.344G>C (p.Cys115Ser) c.161G>C (p.Cys54Ser) c.530G>C (p.Cys177Ser) c.25G>C (p.Ala9Pro) c.125G>C (p.Cys42Ser) n.250G>C n.385G>C c.134G>C (p.Cys45Ser) c.124G>C c.443-3622G>C (n.443-3622G>C) c.*243G>C (n.*243G>C) c.107G>C (p.Cys36Ser) c.443G>C (p.Cys148Ser) | |
6 | g.31933697G= | CA1619369818 | C2 | c.344G= (p.Cys115=) c.161G= (p.Cys54=) c.530G= (p.Cys177=) c.25G= (p.Ala9=) c.125G= (p.Cys42=) n.250G= n.385G= c.134G= (p.Cys45=) c.124G= c.443-3622G= (n.443-3622G=) c.*243G= (n.*243G=) c.107G= (p.Cys36=) c.443G= (p.Cys148=) | |
6 | g.31933697G>T | CA363496037 | C2 | c.344G>T (p.Cys115Phe) c.161G>T (p.Cys54Phe) c.530G>T (p.Cys177Phe) c.25G>T (p.Ala9Ser) c.125G>T (p.Cys42Phe) n.250G>T n.385G>T c.134G>T (p.Cys45Phe) c.124G>T c.443-3622G>T (n.443-3622G>T) c.*243G>T (n.*243G>T) c.107G>T (p.Cys36Phe) c.443G>T (p.Cys148Phe) | COSMIC |
6 | g.31933698C>A | CA363496043 | C2 | c.345C>A (p.Cys115Ter) c.162C>A (p.Cys54Ter) c.531C>A (p.Cys177Ter) c.26C>A (p.Ala9Asp) c.126C>A (p.Cys42Ter) n.251C>A n.386C>A c.135C>A (p.Cys45Ter) c.125C>A c.443-3621C>A (n.443-3621C>A) c.*244C>A (n.*244C>A) c.108C>A (p.Cys36Ter) c.444C>A (p.Cys148Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933698C= | CA1619369819 | C2 | c.345C= (p.Cys115=) c.162C= (p.Cys54=) c.531C= (p.Cys177=) c.26C= (p.Ala9=) c.126C= (p.Cys42=) n.251C= n.386C= c.135C= (p.Cys45=) c.125C= c.443-3621C= (n.443-3621C=) c.*244C= (n.*244C=) c.108C= (p.Cys36=) c.444C= (p.Cys148=) | |
6 | g.31933698C>G | CA363496045 | C2 | c.345C>G (p.Cys115Trp) c.162C>G (p.Cys54Trp) c.531C>G (p.Cys177Trp) c.26C>G (p.Ala9Gly) c.126C>G (p.Cys42Trp) n.251C>G n.386C>G c.135C>G (p.Cys45Trp) c.125C>G c.443-3621C>G (n.443-3621C>G) c.*244C>G (n.*244C>G) c.108C>G (p.Cys36Trp) c.444C>G (p.Cys148Trp) | |
6 | g.31933698C>T | CA363496047 | C2 | c.345C>T (p.Cys115=) c.162C>T (p.Cys54=) c.531C>T (p.Cys177=) c.26C>T (p.Ala9Val) c.126C>T (p.Cys42=) n.251C>T n.386C>T c.135C>T (p.Cys45=) c.125C>T c.443-3621C>T (n.443-3621C>T) c.*244C>T (n.*244C>T) c.108C>T (p.Cys36=) c.444C>T (p.Cys148=) | |
6 | g.31933699T>A | CA363496056 | C2 | c.346T>A (p.Ser116Thr) c.163T>A (p.Ser55Thr) c.532T>A (p.Ser178Thr) c.27T>A (p.Ala9=) c.127T>A (p.Ser43Thr) n.252T>A n.387T>A c.136T>A (p.Ser46Thr) c.126T>A c.443-3620T>A (n.443-3620T>A) c.*245T>A (n.*245T>A) c.109T>A (p.Ser37Thr) c.445T>A (p.Ser149Thr) | |
6 | g.31933699T>C | CA363496057 | C2 | c.346T>C (p.Ser116Pro) c.163T>C (p.Ser55Pro) c.532T>C (p.Ser178Pro) c.27T>C (p.Ala9=) c.127T>C (p.Ser43Pro) n.252T>C n.387T>C c.136T>C (p.Ser46Pro) c.126T>C c.443-3620T>C (n.443-3620T>C) c.*245T>C (n.*245T>C) c.109T>C (p.Ser37Pro) c.445T>C (p.Ser149Pro) | |
6 | g.31933699T>G | CA363496052 | C2 | c.346T>G (p.Ser116Ala) c.163T>G (p.Ser55Ala) c.532T>G (p.Ser178Ala) c.27T>G (p.Ala9=) c.127T>G (p.Ser43Ala) n.252T>G n.387T>G c.136T>G (p.Ser46Ala) c.126T>G c.443-3620T>G (n.443-3620T>G) c.*245T>G (n.*245T>G) c.109T>G (p.Ser37Ala) c.445T>G (p.Ser149Ala) | |
6 | g.31933700C>A | CA363496064 | C2 | c.347C>A (p.Ser116Tyr) c.164C>A (p.Ser55Tyr) c.533C>A (p.Ser178Tyr) c.28C>A (p.Pro10Thr) c.128C>A (p.Ser43Tyr) n.253C>A n.388C>A c.137C>A (p.Ser46Tyr) c.127C>A c.443-3619C>A (n.443-3619C>A) c.*246C>A (n.*246C>A) c.110C>A (p.Ser37Tyr) c.446C>A (p.Ser149Tyr) | |
6 | g.31933700C>G | CA363496068 | C2 | c.347C>G (p.Ser116Cys) c.164C>G (p.Ser55Cys) c.533C>G (p.Ser178Cys) c.28C>G (p.Pro10Ala) c.128C>G (p.Ser43Cys) n.253C>G n.388C>G c.137C>G (p.Ser46Cys) c.127C>G c.443-3619C>G (n.443-3619C>G) c.*246C>G (n.*246C>G) c.110C>G (p.Ser37Cys) c.446C>G (p.Ser149Cys) | |
6 | g.31933700C>T | CA363496071 | C2 | c.347C>T (p.Ser116Phe) c.164C>T (p.Ser55Phe) c.533C>T (p.Ser178Phe) c.28C>T (p.Pro10Ser) c.128C>T (p.Ser43Phe) n.253C>T n.388C>T c.137C>T (p.Ser46Phe) c.127C>T c.443-3619C>T (n.443-3619C>T) c.*246C>T (n.*246C>T) c.110C>T (p.Ser37Phe) c.446C>T (p.Ser149Phe) | |
6 | g.31933701C>A | CA363496075 | C2 | c.348C>A (p.Ser116=) c.165C>A (p.Ser55=) c.534C>A (p.Ser178=) c.29C>A (p.Pro10His) c.129C>A (p.Ser43=) n.254C>A n.389C>A c.138C>A (p.Ser46=) c.128C>A c.443-3618C>A (n.443-3618C>A) c.*247C>A (n.*247C>A) c.111C>A (p.Ser37=) c.447C>A (p.Ser149=) | ClinVar |
6 | g.31933701C= | CA1619369820 | C2 | c.348C= (p.Ser116=) c.165C= (p.Ser55=) c.534C= (p.Ser178=) c.29C= (p.Pro10=) c.129C= (p.Ser43=) n.254C= n.389C= c.138C= (p.Ser46=) c.128C= c.443-3618C= (n.443-3618C=) c.*247C= (n.*247C=) c.111C= (p.Ser37=) c.447C= (p.Ser149=) | |
6 | g.31933701C>G | CA136929010 | C2 | c.348C>G (p.Ser116=) c.165C>G (p.Ser55=) c.534C>G (p.Ser178=) c.29C>G (p.Pro10Arg) c.129C>G (p.Ser43=) n.254C>G n.389C>G c.138C>G (p.Ser46=) c.128C>G c.443-3618C>G (n.443-3618C>G) c.*247C>G (n.*247C>G) c.111C>G (p.Ser37=) c.447C>G (p.Ser149=) | dbSNP gnomAD v4 |
6 | g.31933701C>T | CA363496079 | C2 | c.348C>T (p.Ser116=) c.165C>T (p.Ser55=) c.534C>T (p.Ser178=) c.29C>T (p.Pro10Leu) c.129C>T (p.Ser43=) n.254C>T n.389C>T c.138C>T (p.Ser46=) c.128C>T c.443-3618C>T (n.443-3618C>T) c.*247C>T (n.*247C>T) c.111C>T (p.Ser37=) c.447C>T (p.Ser149=) | gnomAD v4 COSMIC |
6 | g.31933702T>A | CA363496083 | C2 | c.349T>A (p.Ser117Thr) c.166T>A (p.Ser56Thr) c.535T>A (p.Ser179Thr) c.30T>A (p.Pro10=) c.130T>A (p.Ser44Thr) n.255T>A n.390T>A c.139T>A (p.Ser47Thr) c.129T>A c.443-3617T>A (n.443-3617T>A) c.*248T>A (n.*248T>A) c.112T>A (p.Ser38Thr) c.448T>A (p.Ser150Thr) | |
6 | g.31933702T>C | CA363496088 | C2 | c.349T>C (p.Ser117Pro) c.166T>C (p.Ser56Pro) c.535T>C (p.Ser179Pro) c.30T>C (p.Pro10=) c.130T>C (p.Ser44Pro) n.255T>C n.390T>C c.139T>C (p.Ser47Pro) c.129T>C c.443-3617T>C (n.443-3617T>C) c.*248T>C (n.*248T>C) c.112T>C (p.Ser38Pro) c.448T>C (p.Ser150Pro) | |
6 | g.31933702T>G | CA363496091 | C2 | c.349T>G (p.Ser117Ala) c.166T>G (p.Ser56Ala) c.535T>G (p.Ser179Ala) c.30T>G (p.Pro10=) c.130T>G (p.Ser44Ala) n.255T>G n.390T>G c.139T>G (p.Ser47Ala) c.129T>G c.443-3617T>G (n.443-3617T>G) c.*248T>G (n.*248T>G) c.112T>G (p.Ser38Ala) c.448T>G (p.Ser150Ala) | |
6 | g.31933703C>A | CA363496095 | C2 | c.350C>A (p.Ser117Ter) c.167C>A (p.Ser56Ter) c.536C>A (p.Ser179Ter) c.31C>A (p.Arg11=) c.131C>A (p.Ser44Ter) n.256C>A n.391C>A c.140C>A (p.Ser47Ter) c.130C>A c.443-3616C>A (n.443-3616C>A) c.*249C>A (n.*249C>A) c.113C>A (p.Ser38Ter) c.449C>A (p.Ser150Ter) | |
6 | g.31933703C= | CA1619369821 | C2 | c.350C= (p.Ser117=) c.167C= (p.Ser56=) c.536C= (p.Ser179=) c.31C= (p.Arg11=) c.131C= (p.Ser44=) n.256C= n.391C= c.140C= (p.Ser47=) c.130C= c.443-3616C= (n.443-3616C=) c.*249C= (n.*249C=) c.113C= (p.Ser38=) c.449C= (p.Ser150=) | |
6 | g.31933703C>G | CA363496101 | C2 | c.350C>G (p.Ser117Trp) c.167C>G (p.Ser56Trp) c.536C>G (p.Ser179Trp) c.31C>G (p.Arg11Gly) c.131C>G (p.Ser44Trp) n.256C>G n.391C>G c.140C>G (p.Ser47Trp) c.130C>G c.443-3616C>G (n.443-3616C>G) c.*249C>G (n.*249C>G) c.113C>G (p.Ser38Trp) c.449C>G (p.Ser150Trp) | |
6 | g.31933703C>T | CA3727423 | C2 | c.350C>T (p.Ser117Leu) c.167C>T (p.Ser56Leu) c.536C>T (p.Ser179Leu) c.31C>T (p.Arg11Ter) c.131C>T (p.Ser44Leu) n.256C>T n.391C>T c.140C>T (p.Ser47Leu) c.130C>T c.443-3616C>T (n.443-3616C>T) c.*249C>T (n.*249C>T) c.113C>T (p.Ser38Leu) c.449C>T (p.Ser150Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933704G>A | CA3727424 | C2 | c.351G>A (p.Ser117=) c.168G>A (p.Ser56=) c.537G>A (p.Ser179=) c.32G>A (p.Arg11Gln) c.132G>A (p.Ser44=) n.257G>A n.392G>A c.141G>A (p.Ser47=) c.131G>A c.443-3615G>A (n.443-3615G>A) c.*250G>A (n.*250G>A) c.114G>A (p.Ser38=) c.450G>A (p.Ser150=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.31933704G>C | CA363496113 | C2 | c.351G>C (p.Ser117=) c.168G>C (p.Ser56=) c.537G>C (p.Ser179=) c.32G>C (p.Arg11Pro) c.132G>C (p.Ser44=) n.257G>C n.392G>C c.141G>C (p.Ser47=) c.131G>C c.443-3615G>C (n.443-3615G>C) c.*250G>C (n.*250G>C) c.114G>C (p.Ser38=) c.450G>C (p.Ser150=) | |
6 | g.31933704G= | CA1619369822 | C2 | c.351G= (p.Ser117=) c.168G= (p.Ser56=) c.537G= (p.Ser179=) c.32G= (p.Arg11=) c.132G= (p.Ser44=) n.257G= n.392G= c.141G= (p.Ser47=) c.131G= c.443-3615G= (n.443-3615G=) c.*250G= (n.*250G=) c.114G= (p.Ser38=) c.450G= (p.Ser150=) | |
6 | g.31933704G>T | CA363496107 | C2 | c.351G>T (p.Ser117=) c.168G>T (p.Ser56=) c.537G>T (p.Ser179=) c.32G>T (p.Arg11Leu) c.132G>T (p.Ser44=) n.257G>T n.392G>T c.141G>T (p.Ser47=) c.131G>T c.443-3615G>T (n.443-3615G>T) c.*250G>T (n.*250G>T) c.114G>T (p.Ser38=) c.450G>T (p.Ser150=) | |
6 | g.31933704_31933705dup | CA2695206140 | C2 | c.351_352dup (p.Asn118ArgfsTer?) c.168_169dup (p.Asn57ArgfsTer?) c.537_538dup (p.Asn180ArgfsTer?) c.32_33dup (p.Ile12GlufsTer?) c.132_133dup (p.Asn45ArgfsTer?) n.257_258dup n.392_393dup c.141_142dup (p.Asn48ArgfsTer?) c.131_132dup c.443-3615_443-3614dup (n.443-3615_443-3614dup) c.*250_*251dup (n.*250_*251dup) c.114_115dup (p.Asn39ArgfsTer?) c.450_451dup (p.Asn151ArgfsTer?) | |
6 | g.31933705A>C | CA363496117 | C2 | c.352A>C (p.Asn118His) c.169A>C (p.Asn57His) c.538A>C (p.Asn180His) c.33A>C (p.Arg11=) c.133A>C (p.Asn45His) n.258A>C n.393A>C c.142A>C (p.Asn48His) c.132A>C c.443-3614A>C (n.443-3614A>C) c.*251A>C (n.*251A>C) c.115A>C (p.Asn39His) c.451A>C (p.Asn151His) | |
6 | g.31933705A>G | CA363496120 | C2 | c.352A>G (p.Asn118Asp) c.169A>G (p.Asn57Asp) c.538A>G (p.Asn180Asp) c.33A>G (p.Arg11=) c.133A>G (p.Asn45Asp) n.258A>G n.393A>G c.142A>G (p.Asn48Asp) c.132A>G c.443-3614A>G (n.443-3614A>G) c.*251A>G (n.*251A>G) c.115A>G (p.Asn39Asp) c.451A>G (p.Asn151Asp) | |
6 | g.31933705A>T | CA363496122 | C2 | c.352A>T (p.Asn118Tyr) c.169A>T (p.Asn57Tyr) c.538A>T (p.Asn180Tyr) c.33A>T (p.Arg11=) c.133A>T (p.Asn45Tyr) n.258A>T n.393A>T c.142A>T (p.Asn48Tyr) c.132A>T c.443-3614A>T (n.443-3614A>T) c.*251A>T (n.*251A>T) c.115A>T (p.Asn39Tyr) c.451A>T (p.Asn151Tyr) | gnomAD v4 |
6 | g.31933706A>C | CA363496127 | C2 | c.353A>C (p.Asn118Thr) c.170A>C (p.Asn57Thr) c.539A>C (p.Asn180Thr) c.34A>C (p.Ile12Leu) c.134A>C (p.Asn45Thr) n.259A>C n.394A>C c.143A>C (p.Asn48Thr) c.133A>C c.443-3613A>C (n.443-3613A>C) c.*252A>C (n.*252A>C) c.116A>C (p.Asn39Thr) c.452A>C (p.Asn151Thr) | |
6 | g.31933706A>G | CA363496130 | C2 | c.353A>G (p.Asn118Ser) c.170A>G (p.Asn57Ser) c.539A>G (p.Asn180Ser) c.34A>G (p.Ile12Val) c.134A>G (p.Asn45Ser) n.259A>G n.394A>G c.143A>G (p.Asn48Ser) c.133A>G c.443-3613A>G (n.443-3613A>G) c.*252A>G (n.*252A>G) c.116A>G (p.Asn39Ser) c.452A>G (p.Asn151Ser) | gnomAD v4 |
6 | g.31933706A>T | CA363496133 | C2 | c.353A>T (p.Asn118Ile) c.170A>T (p.Asn57Ile) c.539A>T (p.Asn180Ile) c.34A>T (p.Ile12Phe) c.134A>T (p.Asn45Ile) n.259A>T n.394A>T c.143A>T (p.Asn48Ile) c.133A>T c.443-3613A>T (n.443-3613A>T) c.*252A>T (n.*252A>T) c.116A>T (p.Asn39Ile) c.452A>T (p.Asn151Ile) | |
6 | g.31933707T>A | CA363496141 | C2 | c.354T>A (p.Asn118Lys) c.171T>A (p.Asn57Lys) c.540T>A (p.Asn180Lys) c.35T>A (p.Ile12Asn) c.135T>A (p.Asn45Lys) n.260T>A n.395T>A c.144T>A (p.Asn48Lys) c.134T>A c.443-3612T>A (n.443-3612T>A) c.*253T>A (n.*253T>A) c.117T>A (p.Asn39Lys) c.453T>A (p.Asn151Lys) | |
6 | g.31933707T>C | CA363496136 | C2 | c.354T>C (p.Asn118=) c.171T>C (p.Asn57=) c.540T>C (p.Asn180=) c.35T>C (p.Ile12Thr) c.135T>C (p.Asn45=) n.260T>C n.395T>C c.144T>C (p.Asn48=) c.134T>C c.443-3612T>C (n.443-3612T>C) c.*253T>C (n.*253T>C) c.117T>C (p.Asn39=) c.453T>C (p.Asn151=) | |
6 | g.31933707T>G | CA363496138 | C2 | c.354T>G (p.Asn118Lys) c.171T>G (p.Asn57Lys) c.540T>G (p.Asn180Lys) c.35T>G (p.Ile12Ser) c.135T>G (p.Asn45Lys) n.260T>G n.395T>G c.144T>G (p.Asn48Lys) c.134T>G c.443-3612T>G (n.443-3612T>G) c.*253T>G (n.*253T>G) c.117T>G (p.Asn39Lys) c.453T>G (p.Asn151Lys) | |
6 | g.31933708C>A | CA363496142 | C2 | c.355C>A (p.Leu119Ile) c.172C>A (p.Leu58Ile) c.541C>A (p.Leu181Ile) c.36C>A (p.Ile12=) c.136C>A (p.Leu46Ile) n.261C>A n.396C>A c.145C>A (p.Leu49Ile) c.135C>A c.443-3611C>A (n.443-3611C>A) c.*254C>A (n.*254C>A) c.118C>A (p.Leu40Ile) c.454C>A (p.Leu152Ile) | |
6 | g.31933708C>G | CA363496143 | C2 | c.355C>G (p.Leu119Val) c.172C>G (p.Leu58Val) c.541C>G (p.Leu181Val) c.36C>G (p.Ile12Met) c.136C>G (p.Leu46Val) n.261C>G n.396C>G c.145C>G (p.Leu49Val) c.135C>G c.443-3611C>G (n.443-3611C>G) c.*254C>G (n.*254C>G) c.118C>G (p.Leu40Val) c.454C>G (p.Leu152Val) | |
6 | g.31933708C>T | CA363496144 | C2 | c.355C>T (p.Leu119Phe) c.172C>T (p.Leu58Phe) c.541C>T (p.Leu181Phe) c.36C>T (p.Ile12=) c.136C>T (p.Leu46Phe) n.261C>T n.396C>T c.145C>T (p.Leu49Phe) c.135C>T c.443-3611C>T (n.443-3611C>T) c.*254C>T (n.*254C>T) c.118C>T (p.Leu40Phe) c.454C>T (p.Leu152Phe) | gnomAD v4 |
6 | g.31933709T>A | CA363496145 | C2 | c.356T>A (p.Leu119His) c.173T>A (p.Leu58His) c.542T>A (p.Leu181His) c.37T>A (p.Leu13Met) c.137T>A (p.Leu46His) n.262T>A n.397T>A c.146T>A (p.Leu49His) c.136T>A c.443-3610T>A (n.443-3610T>A) c.*255T>A (n.*255T>A) c.119T>A (p.Leu40His) c.455T>A (p.Leu152His) | |
6 | g.31933709T>C | CA363496148 | C2 | c.356T>C (p.Leu119Pro) c.173T>C (p.Leu58Pro) c.542T>C (p.Leu181Pro) c.37T>C (p.Leu13=) c.137T>C (p.Leu46Pro) n.262T>C n.397T>C c.146T>C (p.Leu49Pro) c.136T>C c.443-3610T>C (n.443-3610T>C) c.*255T>C (n.*255T>C) c.119T>C (p.Leu40Pro) c.455T>C (p.Leu152Pro) | |
6 | g.31933709T>G | CA363496150 | C2 | c.356T>G (p.Leu119Arg) c.173T>G (p.Leu58Arg) c.542T>G (p.Leu181Arg) c.37T>G (p.Leu13Val) c.137T>G (p.Leu46Arg) n.262T>G n.397T>G c.146T>G (p.Leu49Arg) c.136T>G c.443-3610T>G (n.443-3610T>G) c.*255T>G (n.*255T>G) c.119T>G (p.Leu40Arg) c.455T>G (p.Leu152Arg) | gnomAD v4 |
6 | g.31933710T>A | CA363496156 | C2 | c.357T>A (p.Leu119=) c.174T>A (p.Leu58=) c.543T>A (p.Leu181=) c.38T>A (p.Leu13Ter) c.138T>A (p.Leu46=) n.263T>A n.398T>A c.147T>A (p.Leu49=) c.137T>A c.443-3609T>A (n.443-3609T>A) c.*256T>A (n.*256T>A) c.120T>A (p.Leu40=) c.456T>A (p.Leu152=) | |
6 | g.31933710T>C | CA363496157 | C2 | c.357T>C (p.Leu119=) c.174T>C (p.Leu58=) c.543T>C (p.Leu181=) c.38T>C (p.Leu13Ser) c.138T>C (p.Leu46=) n.263T>C n.398T>C c.147T>C (p.Leu49=) c.137T>C c.443-3609T>C (n.443-3609T>C) c.*256T>C (n.*256T>C) c.120T>C (p.Leu40=) c.456T>C (p.Leu152=) | |
6 | g.31933710T>G | CA363496153 | C2 | c.357T>G (p.Leu119=) c.174T>G (p.Leu58=) c.543T>G (p.Leu181=) c.38T>G (p.Leu13Trp) c.138T>G (p.Leu46=) n.263T>G n.398T>G c.147T>G (p.Leu49=) c.137T>G c.443-3609T>G (n.443-3609T>G) c.*256T>G (n.*256T>G) c.120T>G (p.Leu40=) c.456T>G (p.Leu152=) | gnomAD v4 |
6 | g.31933712_31933713dup | CA2678069506 | C2 | c.359_360dup (p.Leu121CysfsTer?) c.176_177dup (p.Leu60CysfsTer?) c.545_546dup (p.Leu183CysfsTer?) c.40_41dup (p.Ser15AlafsTer29) c.140_141dup (p.Leu48CysfsTer?) n.265_266dup n.400_401dup c.149_150dup (p.Leu51CysfsTer?) c.139_140dup c.40_41dup (p.Ser15AlafsTer?) c.443-3607_443-3606dup (n.443-3607_443-3606dup) c.*258_*259dup (n.*258_*259dup) c.122_123dup (p.Leu42CysfsTer?) c.458_459dup (p.Leu154CysfsTer?) | gnomAD v4 |
6 | g.31933711G>A | CA363496163 | C2 | c.358G>A (p.Val120Met) c.175G>A (p.Val59Met) c.544G>A (p.Val182Met) c.39G>A (p.Leu13=) c.139G>A (p.Val47Met) n.264G>A n.399G>A c.148G>A (p.Val50Met) c.138G>A c.443-3608G>A (n.443-3608G>A) c.*257G>A (n.*257G>A) c.121G>A (p.Val41Met) c.457G>A (p.Val153Met) | gnomAD v4 |
6 | g.31933711G>C | CA363496161 | C2 | c.358G>C (p.Val120Leu) c.175G>C (p.Val59Leu) c.544G>C (p.Val182Leu) c.39G>C (p.Leu13Phe) c.139G>C (p.Val47Leu) n.264G>C n.399G>C c.148G>C (p.Val50Leu) c.138G>C c.443-3608G>C (n.443-3608G>C) c.*257G>C (n.*257G>C) c.121G>C (p.Val41Leu) c.457G>C (p.Val153Leu) | |
6 | g.31933711G>T | CA363496166 | C2 | c.358G>T (p.Val120Leu) c.175G>T (p.Val59Leu) c.544G>T (p.Val182Leu) c.39G>T (p.Leu13Phe) c.139G>T (p.Val47Leu) n.264G>T n.399G>T c.148G>T (p.Val50Leu) c.138G>T c.443-3608G>T (n.443-3608G>T) c.*257G>T (n.*257G>T) c.121G>T (p.Val41Leu) c.457G>T (p.Val153Leu) | |
6 | g.31933712T>A | CA363496169 | C2 | c.359T>A (p.Val120Glu) c.176T>A (p.Val59Glu) c.545T>A (p.Val182Glu) c.40T>A (p.Cys14Ser) c.140T>A (p.Val47Glu) n.265T>A n.400T>A c.149T>A (p.Val50Glu) c.139T>A c.443-3607T>A (n.443-3607T>A) c.*258T>A (n.*258T>A) c.122T>A (p.Val41Glu) c.458T>A (p.Val153Glu) | |
6 | g.31933712T>C | CA363496172 | C2 | c.359T>C (p.Val120Ala) c.176T>C (p.Val59Ala) c.545T>C (p.Val182Ala) c.40T>C (p.Cys14Arg) c.140T>C (p.Val47Ala) n.265T>C n.400T>C c.149T>C (p.Val50Ala) c.139T>C c.443-3607T>C (n.443-3607T>C) c.*258T>C (n.*258T>C) c.122T>C (p.Val41Ala) c.458T>C (p.Val153Ala) | |
6 | g.31933712T>G | CA363496170 | C2 | c.359T>G (p.Val120Gly) c.176T>G (p.Val59Gly) c.545T>G (p.Val182Gly) c.40T>G (p.Cys14Gly) c.140T>G (p.Val47Gly) n.265T>G n.400T>G c.149T>G (p.Val50Gly) c.139T>G c.443-3607T>G (n.443-3607T>G) c.*258T>G (n.*258T>G) c.122T>G (p.Val41Gly) c.458T>G (p.Val153Gly) | gnomAD v4 |
6 | g.31933713G>A | CA363496174 | C2 | c.360G>A (p.Val120=) c.177G>A (p.Val59=) c.546G>A (p.Val182=) c.41G>A (p.Cys14Tyr) c.141G>A (p.Val47=) n.266G>A n.401G>A c.150G>A (p.Val50=) c.140G>A c.443-3606G>A (n.443-3606G>A) c.*259G>A (n.*259G>A) c.123G>A (p.Val41=) c.459G>A (p.Val153=) | |
6 | g.31933713G>C | CA363496177 | C2 | c.360G>C (p.Val120=) c.177G>C (p.Val59=) c.546G>C (p.Val182=) c.41G>C (p.Cys14Ser) c.141G>C (p.Val47=) n.266G>C n.401G>C c.150G>C (p.Val50=) c.140G>C c.443-3606G>C (n.443-3606G>C) c.*259G>C (n.*259G>C) c.123G>C (p.Val41=) c.459G>C (p.Val153=) | |
6 | g.31933713G= | CA1619369823 | C2 | c.360G= (p.Val120=) c.177G= (p.Val59=) c.546G= (p.Val182=) c.41G= (p.Cys14=) c.141G= (p.Val47=) n.266G= n.401G= c.150G= (p.Val50=) c.140G= c.443-3606G= (n.443-3606G=) c.*259G= (n.*259G=) c.123G= (p.Val41=) c.459G= (p.Val153=) | |
6 | g.31933713G>T | CA363496179 | C2 | c.360G>T (p.Val120=) c.177G>T (p.Val59=) c.546G>T (p.Val182=) c.41G>T (p.Cys14Phe) c.141G>T (p.Val47=) n.266G>T n.401G>T c.150G>T (p.Val50=) c.140G>T c.443-3606G>T (n.443-3606G>T) c.*259G>T (n.*259G>T) c.123G>T (p.Val41=) c.459G>T (p.Val153=) | dbSNP gnomAD v2 |
6 | g.31933714C>A | CA363496182 | C2 | c.361C>A (p.Leu121Ile) c.178C>A (p.Leu60Ile) c.547C>A (p.Leu183Ile) c.42C>A (p.Cys14Ter) c.142C>A (p.Leu48Ile) n.267C>A n.402C>A c.151C>A (p.Leu51Ile) c.141C>A c.443-3605C>A (n.443-3605C>A) c.*260C>A (n.*260C>A) c.124C>A (p.Leu42Ile) c.460C>A (p.Leu154Ile) | |
6 | g.31933714C>G | CA363496184 | C2 | c.361C>G (p.Leu121Val) c.178C>G (p.Leu60Val) c.547C>G (p.Leu183Val) c.42C>G (p.Cys14Trp) c.142C>G (p.Leu48Val) n.267C>G n.402C>G c.151C>G (p.Leu51Val) c.141C>G c.443-3605C>G (n.443-3605C>G) c.*260C>G (n.*260C>G) c.124C>G (p.Leu42Val) c.460C>G (p.Leu154Val) | |
6 | g.31933714C>T | CA363496186 | C2 | c.361C>T (p.Leu121Phe) c.178C>T (p.Leu60Phe) c.547C>T (p.Leu183Phe) c.42C>T (p.Cys14=) c.142C>T (p.Leu48Phe) n.267C>T n.402C>T c.151C>T (p.Leu51Phe) c.141C>T c.443-3605C>T (n.443-3605C>T) c.*260C>T (n.*260C>T) c.124C>T (p.Leu42Phe) c.460C>T (p.Leu154Phe) | |
6 | g.31933715T>A | CA363496191 | C2 | c.362T>A (p.Leu121His) c.179T>A (p.Leu60His) c.548T>A (p.Leu183His) c.43T>A (p.Ser15Thr) c.143T>A (p.Leu48His) n.268T>A n.403T>A c.152T>A (p.Leu51His) c.142T>A c.443-3604T>A (n.443-3604T>A) c.*261T>A (n.*261T>A) c.125T>A (p.Leu42His) c.461T>A (p.Leu154His) | |
6 | g.31933715T>C | CA363496193 | C2 | c.362T>C (p.Leu121Pro) c.179T>C (p.Leu60Pro) c.548T>C (p.Leu183Pro) c.43T>C (p.Ser15Pro) c.143T>C (p.Leu48Pro) n.268T>C n.403T>C c.152T>C (p.Leu51Pro) c.142T>C c.443-3604T>C (n.443-3604T>C) c.*261T>C (n.*261T>C) c.125T>C (p.Leu42Pro) c.461T>C (p.Leu154Pro) | |
6 | g.31933715T>G | CA363496195 | C2 | c.362T>G (p.Leu121Arg) c.179T>G (p.Leu60Arg) c.548T>G (p.Leu183Arg) c.43T>G (p.Ser15Ala) c.143T>G (p.Leu48Arg) n.268T>G n.403T>G c.152T>G (p.Leu51Arg) c.142T>G c.443-3604T>G (n.443-3604T>G) c.*261T>G (n.*261T>G) c.125T>G (p.Leu42Arg) c.461T>G (p.Leu154Arg) | |
6 | g.31933716C>A | CA3727425 | C2 | c.363C>A (p.Leu121=) c.180C>A (p.Leu60=) c.549C>A (p.Leu183=) c.44C>A (p.Ser15Ter) c.144C>A (p.Leu48=) n.269C>A n.404C>A c.153C>A (p.Leu51=) c.143C>A c.443-3603C>A (n.443-3603C>A) c.*262C>A (n.*262C>A) c.126C>A (p.Leu42=) c.462C>A (p.Leu154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933716C= | CA1619369824 | C2 | c.363C= (p.Leu121=) c.180C= (p.Leu60=) c.549C= (p.Leu183=) c.44C= (p.Ser15=) c.144C= (p.Leu48=) n.269C= n.404C= c.153C= (p.Leu51=) c.143C= c.443-3603C= (n.443-3603C=) c.*262C= (n.*262C=) c.126C= (p.Leu42=) c.462C= (p.Leu154=) | |
6 | g.31933716C>G | CA363496200 | C2 | c.363C>G (p.Leu121=) c.180C>G (p.Leu60=) c.549C>G (p.Leu183=) c.44C>G (p.Ser15Ter) c.144C>G (p.Leu48=) n.269C>G n.404C>G c.153C>G (p.Leu51=) c.143C>G c.443-3603C>G (n.443-3603C>G) c.*262C>G (n.*262C>G) c.126C>G (p.Leu42=) c.462C>G (p.Leu154=) | |
6 | g.31933716C>T | CA363496203 | C2 | c.363C>T (p.Leu121=) c.180C>T (p.Leu60=) c.549C>T (p.Leu183=) c.44C>T (p.Ser15Leu) c.144C>T (p.Leu48=) n.269C>T n.404C>T c.153C>T (p.Leu51=) c.143C>T c.443-3603C>T (n.443-3603C>T) c.*262C>T (n.*262C>T) c.126C>T (p.Leu42=) c.462C>T (p.Leu154=) | |
6 | g.31933717A= | CA1619369825 | C2 | c.364A= (p.Thr122=) c.181A= (p.Thr61=) c.550A= (p.Thr184=) c.45A= (p.Ser15=) c.145A= (p.Thr49=) n.270A= n.405A= c.154A= (p.Thr52=) c.144A= c.443-3602A= (n.443-3602A=) c.*263A= (n.*263A=) c.127A= (p.Thr43=) c.463A= (p.Thr155=) | |
6 | g.31933717A>C | CA363496210 | C2 | c.364A>C (p.Thr122Pro) c.181A>C (p.Thr61Pro) c.550A>C (p.Thr184Pro) c.45A>C (p.Ser15=) c.145A>C (p.Thr49Pro) n.270A>C n.405A>C c.154A>C (p.Thr52Pro) c.144A>C c.443-3602A>C (n.443-3602A>C) c.*263A>C (n.*263A>C) c.127A>C (p.Thr43Pro) c.463A>C (p.Thr155Pro) | |
6 | g.31933717A>G | CA363496215 | C2 | c.364A>G (p.Thr122Ala) c.181A>G (p.Thr61Ala) c.550A>G (p.Thr184Ala) c.45A>G (p.Ser15=) c.145A>G (p.Thr49Ala) n.270A>G n.405A>G c.154A>G (p.Thr52Ala) c.144A>G c.443-3602A>G (n.443-3602A>G) c.*263A>G (n.*263A>G) c.127A>G (p.Thr43Ala) c.463A>G (p.Thr155Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933717A>T | CA363496213 | C2 | c.364A>T (p.Thr122Ser) c.181A>T (p.Thr61Ser) c.550A>T (p.Thr184Ser) c.45A>T (p.Ser15=) c.145A>T (p.Thr49Ser) n.270A>T n.405A>T c.154A>T (p.Thr52Ser) c.144A>T c.443-3602A>T (n.443-3602A>T) c.*263A>T (n.*263A>T) c.127A>T (p.Thr43Ser) c.463A>T (p.Thr155Ser) | |
6 | g.31933718C>A | CA363496219 | C2 | c.365C>A (p.Thr122Lys) c.182C>A (p.Thr61Lys) c.551C>A (p.Thr184Lys) c.46C>A (p.Arg16=) c.146C>A (p.Thr49Lys) n.271C>A n.406C>A c.155C>A (p.Thr52Lys) c.145C>A c.443-3601C>A (n.443-3601C>A) c.*264C>A (n.*264C>A) c.128C>A (p.Thr43Lys) c.464C>A (p.Thr155Lys) | |
6 | g.31933718C= | CA1619369826 | C2 | c.365C= (p.Thr122=) c.182C= (p.Thr61=) c.551C= (p.Thr184=) c.46C= (p.Arg16=) c.146C= (p.Thr49=) n.271C= n.406C= c.155C= (p.Thr52=) c.145C= c.443-3601C= (n.443-3601C=) c.*264C= (n.*264C=) c.128C= (p.Thr43=) c.464C= (p.Thr155=) | |
6 | g.31933718C>G | CA363496222 | C2 | c.365C>G (p.Thr122Arg) c.182C>G (p.Thr61Arg) c.551C>G (p.Thr184Arg) c.46C>G (p.Arg16Gly) c.146C>G (p.Thr49Arg) n.271C>G n.406C>G c.155C>G (p.Thr52Arg) c.145C>G c.443-3601C>G (n.443-3601C>G) c.*264C>G (n.*264C>G) c.128C>G (p.Thr43Arg) c.464C>G (p.Thr155Arg) | |
6 | g.31933718C>T | CA3727426 | C2 | c.365C>T (p.Thr122Met) c.182C>T (p.Thr61Met) c.551C>T (p.Thr184Met) c.46C>T (p.Arg16Trp) c.146C>T (p.Thr49Met) n.271C>T n.406C>T c.155C>T (p.Thr52Met) c.145C>T c.443-3601C>T (n.443-3601C>T) c.*264C>T (n.*264C>T) c.128C>T (p.Thr43Met) c.464C>T (p.Thr155Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.31933718_31933719del | CA2578572144 | C2 | c.365_366del (p.Thr122ArgfsTer27) c.182_183del (p.Thr61ArgfsTer27) c.551_552del (p.Thr184ArgfsTer27) c.46_47del (p.Arg16GlyfsTer?) c.146_147del (p.Thr49ArgfsTer27) n.271_272del n.406_407del c.155_156del (p.Thr52ArgfsTer27) c.145_146del c.46_47del (p.Arg16GlyfsTer26) c.443-3601_443-3600del (n.443-3601_443-3600del) c.*264_*265del (n.*264_*265del) c.128_129del (p.Thr43ArgfsTer27) c.464_465del (p.Thr155ArgfsTer27) | |
6 | g.31933718_31933722del | CA2678069508 | C2 | c.365_369del (p.Thr122IlefsTer26) c.182_186del (p.Thr61IlefsTer26) c.551_555del (p.Thr184IlefsTer26) c.46_50del (p.Arg16SerfsTer?) c.146_150del (p.Thr49IlefsTer26) n.271_275del n.406_410del c.155_159del (p.Thr52IlefsTer26) c.145_149del c.46_50del (p.Arg16SerfsTer25) c.443-3601_443-3597del (n.443-3601_443-3597del) c.*264_*268del (n.*264_*268del) c.128_132del (p.Thr43IlefsTer26) c.464_468del (p.Thr155IlefsTer26) | gnomAD v4 |
6 | g.31933719G>A | CA363496226 | C2 | c.366G>A (p.Thr122=) c.183G>A (p.Thr61=) c.552G>A (p.Thr184=) c.47G>A (p.Arg16Gln) c.147G>A (p.Thr49=) n.272G>A n.407G>A c.156G>A (p.Thr52=) c.146G>A c.443-3600G>A (n.443-3600G>A) c.*265G>A (n.*265G>A) c.129G>A (p.Thr43=) c.465G>A (p.Thr155=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.31933719G>C | CA363496229 | C2 | c.366G>C (p.Thr122=) c.183G>C (p.Thr61=) c.552G>C (p.Thr184=) c.47G>C (p.Arg16Pro) c.147G>C (p.Thr49=) n.272G>C n.407G>C c.156G>C (p.Thr52=) c.146G>C c.443-3600G>C (n.443-3600G>C) c.*265G>C (n.*265G>C) c.129G>C (p.Thr43=) c.465G>C (p.Thr155=) | gnomAD v4 |
6 | g.31933719G= | CA1619369827 | C2 | c.366G= (p.Thr122=) c.183G= (p.Thr61=) c.552G= (p.Thr184=) c.47G= (p.Arg16=) c.147G= (p.Thr49=) n.272G= n.407G= c.156G= (p.Thr52=) c.146G= c.443-3600G= (n.443-3600G=) c.*265G= (n.*265G=) c.129G= (p.Thr43=) c.465G= (p.Thr155=) | |
6 | g.31933719G>T | CA363496232 | C2 | c.366G>T (p.Thr122=) c.183G>T (p.Thr61=) c.552G>T (p.Thr184=) c.47G>T (p.Arg16Leu) c.147G>T (p.Thr49=) n.272G>T n.407G>T c.156G>T (p.Thr52=) c.146G>T c.443-3600G>T (n.443-3600G>T) c.*265G>T (n.*265G>T) c.129G>T (p.Thr43=) c.465G>T (p.Thr155=) | dbSNP |
6 | g.31933720G>A | CA363496236 | C2 | c.367G>A (p.Gly123Arg) c.184G>A (p.Gly62Arg) c.553G>A (p.Gly185Arg) c.48G>A (p.Arg16=) c.148G>A (p.Gly50Arg) n.273G>A n.408G>A c.157G>A (p.Gly53Arg) c.147G>A c.443-3599G>A (n.443-3599G>A) c.*266G>A (n.*266G>A) c.130G>A (p.Gly44Arg) c.466G>A (p.Gly156Arg) | |
6 | g.31933720G>C | CA363496238 | C2 | c.367G>C (p.Gly123Arg) c.184G>C (p.Gly62Arg) c.553G>C (p.Gly185Arg) c.48G>C (p.Arg16=) c.148G>C (p.Gly50Arg) n.273G>C n.408G>C c.157G>C (p.Gly53Arg) c.147G>C c.443-3599G>C (n.443-3599G>C) c.*266G>C (n.*266G>C) c.130G>C (p.Gly44Arg) c.466G>C (p.Gly156Arg) | |
6 | g.31933720G>T | CA363496240 | C2 | c.367G>T (p.Gly123Trp) c.184G>T (p.Gly62Trp) c.553G>T (p.Gly185Trp) c.48G>T (p.Arg16=) c.148G>T (p.Gly50Trp) n.273G>T n.408G>T c.157G>T (p.Gly53Trp) c.147G>T c.443-3599G>T (n.443-3599G>T) c.*266G>T (n.*266G>T) c.130G>T (p.Gly44Trp) c.466G>T (p.Gly156Trp) | |
6 | g.31933721G>A | CA363496248 | C2 | c.368G>A (p.Gly123Glu) c.185G>A (p.Gly62Glu) c.554G>A (p.Gly185Glu) c.49G>A (p.Gly17Ser) c.149G>A (p.Gly50Glu) n.274G>A n.409G>A c.158G>A (p.Gly53Glu) c.148G>A c.443-3598G>A (n.443-3598G>A) c.*267G>A (n.*267G>A) c.131G>A (p.Gly44Glu) c.467G>A (p.Gly156Glu) | COSMIC |
6 | g.31933721G>C | CA363496245 | C2 | c.368G>C (p.Gly123Ala) c.185G>C (p.Gly62Ala) c.554G>C (p.Gly185Ala) c.49G>C (p.Gly17Arg) c.149G>C (p.Gly50Ala) n.274G>C n.409G>C c.158G>C (p.Gly53Ala) c.148G>C c.443-3598G>C (n.443-3598G>C) c.*267G>C (n.*267G>C) c.131G>C (p.Gly44Ala) c.467G>C (p.Gly156Ala) | gnomAD v4 |
6 | g.31933721G>T | CA363496243 | C2 | c.368G>T (p.Gly123Val) c.185G>T (p.Gly62Val) c.554G>T (p.Gly185Val) c.49G>T (p.Gly17Cys) c.149G>T (p.Gly50Val) n.274G>T n.409G>T c.158G>T (p.Gly53Val) c.148G>T c.443-3598G>T (n.443-3598G>T) c.*267G>T (n.*267G>T) c.131G>T (p.Gly44Val) c.467G>T (p.Gly156Val) | |
6 | g.31933722G>A | CA363496255 | C2 | c.369G>A (p.Gly123=) c.186G>A (p.Gly62=) c.555G>A (p.Gly185=) c.50G>A (p.Gly17Asp) c.150G>A (p.Gly50=) n.275G>A n.410G>A c.159G>A (p.Gly53=) c.149G>A c.443-3597G>A (n.443-3597G>A) c.*268G>A (n.*268G>A) c.132G>A (p.Gly44=) c.468G>A (p.Gly156=) | |
6 | g.31933722G>C | CA363496259 | C2 | c.369G>C (p.Gly123=) c.186G>C (p.Gly62=) c.555G>C (p.Gly185=) c.50G>C (p.Gly17Ala) c.150G>C (p.Gly50=) n.275G>C n.410G>C c.159G>C (p.Gly53=) c.149G>C c.443-3597G>C (n.443-3597G>C) c.*268G>C (n.*268G>C) c.132G>C (p.Gly44=) c.468G>C (p.Gly156=) | |
6 | g.31933722G>T | CA363496262 | C2 | c.369G>T (p.Gly123=) c.186G>T (p.Gly62=) c.555G>T (p.Gly185=) c.50G>T (p.Gly17Val) c.150G>T (p.Gly50=) n.275G>T n.410G>T c.159G>T (p.Gly53=) c.149G>T c.443-3597G>T (n.443-3597G>T) c.*268G>T (n.*268G>T) c.132G>T (p.Gly44=) c.468G>T (p.Gly156=) | |
6 | g.31933723T>A | CA363496264 | C2 | c.370T>A (p.Ser124Thr) c.187T>A (p.Ser63Thr) c.556T>A (p.Ser186Thr) c.51T>A (p.Gly17=) c.151T>A (p.Ser51Thr) n.276T>A n.411T>A c.160T>A (p.Ser54Thr) c.150T>A c.443-3596T>A (n.443-3596T>A) c.*269T>A (n.*269T>A) c.133T>A (p.Ser45Thr) c.469T>A (p.Ser157Thr) | |
6 | g.31933723T>C | CA363496265 | C2 | c.370T>C (p.Ser124Pro) c.187T>C (p.Ser63Pro) c.556T>C (p.Ser186Pro) c.51T>C (p.Gly17=) c.151T>C (p.Ser51Pro) n.276T>C n.411T>C c.160T>C (p.Ser54Pro) c.150T>C c.443-3596T>C (n.443-3596T>C) c.*269T>C (n.*269T>C) c.133T>C (p.Ser45Pro) c.469T>C (p.Ser157Pro) | gnomAD v4 |
6 | g.31933723T>G | CA363496266 | C2 | c.370T>G (p.Ser124Ala) c.187T>G (p.Ser63Ala) c.556T>G (p.Ser186Ala) c.51T>G (p.Gly17=) c.151T>G (p.Ser51Ala) n.276T>G n.411T>G c.160T>G (p.Ser54Ala) c.150T>G c.443-3596T>G (n.443-3596T>G) c.*269T>G (n.*269T>G) c.133T>G (p.Ser45Ala) c.469T>G (p.Ser157Ala) | gnomAD v4 |
6 | g.31933724C>A | CA363496269 | C2 | c.371C>A (p.Ser124Tyr) c.188C>A (p.Ser63Tyr) c.557C>A (p.Ser186Tyr) c.52C>A (p.Leu18Ile) c.152C>A (p.Ser51Tyr) n.277C>A n.412C>A c.161C>A (p.Ser54Tyr) c.151C>A c.443-3595C>A (n.443-3595C>A) c.*270C>A (n.*270C>A) c.134C>A (p.Ser45Tyr) c.470C>A (p.Ser157Tyr) | |
6 | g.31933724C= | CA1619369828 | C2 | c.371C= (p.Ser124=) c.188C= (p.Ser63=) c.557C= (p.Ser186=) c.52C= (p.Leu18=) c.152C= (p.Ser51=) n.277C= n.412C= c.161C= (p.Ser54=) c.151C= c.443-3595C= (n.443-3595C=) c.*270C= (n.*270C=) c.134C= (p.Ser45=) c.470C= (p.Ser157=) | |
6 | g.31933724C>G | CA363496271 | C2 | c.371C>G (p.Ser124Cys) c.188C>G (p.Ser63Cys) c.557C>G (p.Ser186Cys) c.52C>G (p.Leu18Val) c.152C>G (p.Ser51Cys) n.277C>G n.412C>G c.161C>G (p.Ser54Cys) c.151C>G c.443-3595C>G (n.443-3595C>G) c.*270C>G (n.*270C>G) c.134C>G (p.Ser45Cys) c.470C>G (p.Ser157Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933724C>T | CA363496274 | C2 | c.371C>T (p.Ser124Phe) c.188C>T (p.Ser63Phe) c.557C>T (p.Ser186Phe) c.52C>T (p.Leu18Phe) c.152C>T (p.Ser51Phe) n.277C>T n.412C>T c.161C>T (p.Ser54Phe) c.151C>T c.443-3595C>T (n.443-3595C>T) c.*270C>T (n.*270C>T) c.134C>T (p.Ser45Phe) c.470C>T (p.Ser157Phe) | COSMIC |
6 | g.31933725T>A | CA363496280 | C2 | c.372T>A (p.Ser124=) c.189T>A (p.Ser63=) c.558T>A (p.Ser186=) c.53T>A (p.Leu18His) c.153T>A (p.Ser51=) n.278T>A n.413T>A c.162T>A (p.Ser54=) c.152T>A c.443-3594T>A (n.443-3594T>A) c.*271T>A (n.*271T>A) c.135T>A (p.Ser45=) c.471T>A (p.Ser157=) | |
6 | g.31933725T>C | CA363496283 | C2 | c.372T>C (p.Ser124=) c.189T>C (p.Ser63=) c.558T>C (p.Ser186=) c.53T>C (p.Leu18Pro) c.153T>C (p.Ser51=) n.278T>C n.413T>C c.162T>C (p.Ser54=) c.152T>C c.443-3594T>C (n.443-3594T>C) c.*271T>C (n.*271T>C) c.135T>C (p.Ser45=) c.471T>C (p.Ser157=) | |
6 | g.31933725T>G | CA363496285 | C2 | c.372T>G (p.Ser124=) c.189T>G (p.Ser63=) c.558T>G (p.Ser186=) c.53T>G (p.Leu18Arg) c.153T>G (p.Ser51=) n.278T>G n.413T>G c.162T>G (p.Ser54=) c.152T>G c.443-3594T>G (n.443-3594T>G) c.*271T>G (n.*271T>G) c.135T>G (p.Ser45=) c.471T>G (p.Ser157=) | |
6 | g.31933726T>A | CA363496292 | C2 | c.373T>A (p.Ser125Thr) c.190T>A (p.Ser64Thr) c.559T>A (p.Ser187Thr) c.54T>A (p.Leu18=) c.154T>A (p.Ser52Thr) n.279T>A n.414T>A c.163T>A (p.Ser55Thr) c.153T>A c.443-3593T>A (n.443-3593T>A) c.*272T>A (n.*272T>A) c.136T>A (p.Ser46Thr) c.472T>A (p.Ser158Thr) | |
6 | g.31933726T>C | CA363496287 | C2 | c.373T>C (p.Ser125Pro) c.190T>C (p.Ser64Pro) c.559T>C (p.Ser187Pro) c.54T>C (p.Leu18=) c.154T>C (p.Ser52Pro) n.279T>C n.414T>C c.163T>C (p.Ser55Pro) c.153T>C c.443-3593T>C (n.443-3593T>C) c.*272T>C (n.*272T>C) c.136T>C (p.Ser46Pro) c.472T>C (p.Ser158Pro) | |
6 | g.31933726T>G | CA363496290 | C2 | c.373T>G (p.Ser125Ala) c.190T>G (p.Ser64Ala) c.559T>G (p.Ser187Ala) c.54T>G (p.Leu18=) c.154T>G (p.Ser52Ala) n.279T>G n.414T>G c.163T>G (p.Ser55Ala) c.153T>G c.443-3593T>G (n.443-3593T>G) c.*272T>G (n.*272T>G) c.136T>G (p.Ser46Ala) c.472T>G (p.Ser158Ala) | |
6 | g.31933727C>A | CA363496296 | C2 | c.374C>A (p.Ser125Ter) c.191C>A (p.Ser64Ter) c.560C>A (p.Ser187Ter) c.55C>A (p.Arg19=) c.155C>A (p.Ser52Ter) n.280C>A n.415C>A c.164C>A (p.Ser55Ter) c.154C>A c.443-3592C>A (n.443-3592C>A) c.*273C>A (n.*273C>A) c.137C>A (p.Ser46Ter) c.473C>A (p.Ser158Ter) | |
6 | g.31933727C= | CA1619369829 | C2 | c.374C= (p.Ser125=) c.191C= (p.Ser64=) c.560C= (p.Ser187=) c.55C= (p.Arg19=) c.155C= (p.Ser52=) n.280C= n.415C= c.164C= (p.Ser55=) c.154C= c.443-3592C= (n.443-3592C=) c.*273C= (n.*273C=) c.137C= (p.Ser46=) c.473C= (p.Ser158=) | |
6 | g.31933727C>G | CA363496299 | C2 | c.374C>G (p.Ser125Trp) c.191C>G (p.Ser64Trp) c.560C>G (p.Ser187Trp) c.55C>G (p.Arg19Gly) c.155C>G (p.Ser52Trp) n.280C>G n.415C>G c.164C>G (p.Ser55Trp) c.154C>G c.443-3592C>G (n.443-3592C>G) c.*273C>G (n.*273C>G) c.137C>G (p.Ser46Trp) c.473C>G (p.Ser158Trp) | |
6 | g.31933727C>T | CA3727427 | C2 | c.374C>T (p.Ser125Leu) c.191C>T (p.Ser64Leu) c.560C>T (p.Ser187Leu) c.55C>T (p.Arg19Trp) c.155C>T (p.Ser52Leu) n.280C>T n.415C>T c.164C>T (p.Ser55Leu) c.154C>T c.443-3592C>T (n.443-3592C>T) c.*273C>T (n.*273C>T) c.137C>T (p.Ser46Leu) c.473C>T (p.Ser158Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.31933728G>A | CA363496307 | C2 | c.375G>A (p.Ser125=) c.192G>A (p.Ser64=) c.561G>A (p.Ser187=) c.56G>A (p.Arg19Gln) c.156G>A (p.Ser52=) n.281G>A n.416G>A c.165G>A (p.Ser55=) c.155G>A c.443-3591G>A (n.443-3591G>A) c.*274G>A (n.*274G>A) c.138G>A (p.Ser46=) c.474G>A (p.Ser158=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933728G>C | CA363496311 | C2 | c.375G>C (p.Ser125=) c.192G>C (p.Ser64=) c.561G>C (p.Ser187=) c.56G>C (p.Arg19Pro) c.156G>C (p.Ser52=) n.281G>C n.416G>C c.165G>C (p.Ser55=) c.155G>C c.443-3591G>C (n.443-3591G>C) c.*274G>C (n.*274G>C) c.138G>C (p.Ser46=) c.474G>C (p.Ser158=) | gnomAD v4 |
6 | g.31933728G= | CA1619369830 | C2 | c.375G= (p.Ser125=) c.192G= (p.Ser64=) c.561G= (p.Ser187=) c.56G= (p.Arg19=) c.156G= (p.Ser52=) n.281G= n.416G= c.165G= (p.Ser55=) c.155G= c.443-3591G= (n.443-3591G=) c.*274G= (n.*274G=) c.138G= (p.Ser46=) c.474G= (p.Ser158=) | |
6 | g.31933728G>T | CA363496315 | C2 | c.375G>T (p.Ser125=) c.192G>T (p.Ser64=) c.561G>T (p.Ser187=) c.56G>T (p.Arg19Leu) c.156G>T (p.Ser52=) n.281G>T n.416G>T c.165G>T (p.Ser55=) c.155G>T c.443-3591G>T (n.443-3591G>T) c.*274G>T (n.*274G>T) c.138G>T (p.Ser46=) c.474G>T (p.Ser158=) | |
6 | g.31933729G>A | CA363496319 | C2 | c.376G>A (p.Glu126Lys) c.193G>A (p.Glu65Lys) c.562G>A (p.Glu188Lys) c.57G>A (p.Arg19=) c.157G>A (p.Glu53Lys) n.282G>A n.417G>A c.166G>A (p.Glu56Lys) c.156G>A c.443-3590G>A (n.443-3590G>A) c.*275G>A (n.*275G>A) c.139G>A (p.Glu47Lys) c.475G>A (p.Glu159Lys) | |
6 | g.31933729G>C | CA363496322 | C2 | c.376G>C (p.Glu126Gln) c.193G>C (p.Glu65Gln) c.562G>C (p.Glu188Gln) c.57G>C (p.Arg19=) c.157G>C (p.Glu53Gln) n.282G>C n.417G>C c.166G>C (p.Glu56Gln) c.156G>C c.443-3590G>C (n.443-3590G>C) c.*275G>C (n.*275G>C) c.139G>C (p.Glu47Gln) c.475G>C (p.Glu159Gln) | |
6 | g.31933729G>T | CA363496324 | C2 | c.376G>T (p.Glu126Ter) c.193G>T (p.Glu65Ter) c.562G>T (p.Glu188Ter) c.57G>T (p.Arg19=) c.157G>T (p.Glu53Ter) n.282G>T n.417G>T c.166G>T (p.Glu56Ter) c.156G>T c.443-3590G>T (n.443-3590G>T) c.*275G>T (n.*275G>T) c.139G>T (p.Glu47Ter) c.475G>T (p.Glu159Ter) | |
6 | g.31933730A>C | CA363496326 | C2 | c.377A>C (p.Glu126Ala) c.194A>C (p.Glu65Ala) c.563A>C (p.Glu188Ala) c.58A>C (p.Ser20Arg) c.158A>C (p.Glu53Ala) n.283A>C n.418A>C c.167A>C (p.Glu56Ala) c.157A>C c.443-3589A>C (n.443-3589A>C) c.*276A>C (n.*276A>C) c.140A>C (p.Glu47Ala) c.476A>C (p.Glu159Ala) | |
6 | g.31933730A>G | CA363496329 | C2 | c.377A>G (p.Glu126Gly) c.194A>G (p.Glu65Gly) c.563A>G (p.Glu188Gly) c.58A>G (p.Ser20Gly) c.158A>G (p.Glu53Gly) n.283A>G n.418A>G c.167A>G (p.Glu56Gly) c.157A>G c.443-3589A>G (n.443-3589A>G) c.*276A>G (n.*276A>G) c.140A>G (p.Glu47Gly) c.476A>G (p.Glu159Gly) | |
6 | g.31933730A>T | CA363496331 | C2 | c.377A>T (p.Glu126Val) c.194A>T (p.Glu65Val) c.563A>T (p.Glu188Val) c.58A>T (p.Ser20Cys) c.158A>T (p.Glu53Val) n.283A>T n.418A>T c.167A>T (p.Glu56Val) c.157A>T c.443-3589A>T (n.443-3589A>T) c.*276A>T (n.*276A>T) c.140A>T (p.Glu47Val) c.476A>T (p.Glu159Val) | |
6 | g.31933731G>A | CA363496335 | C2 | c.378G>A (p.Glu126=) c.195G>A (p.Glu65=) c.564G>A (p.Glu188=) c.59G>A (p.Ser20Asn) c.159G>A (p.Glu53=) n.284G>A n.419G>A c.168G>A (p.Glu56=) c.158G>A c.443-3588G>A (n.443-3588G>A) c.*277G>A (n.*277G>A) c.141G>A (p.Glu47=) c.477G>A (p.Glu159=) | COSMIC |
6 | g.31933731G>C | CA363496339 | C2 | c.378G>C (p.Glu126Asp) c.195G>C (p.Glu65Asp) c.564G>C (p.Glu188Asp) c.59G>C (p.Ser20Thr) c.159G>C (p.Glu53Asp) n.284G>C n.419G>C c.168G>C (p.Glu56Asp) c.158G>C c.443-3588G>C (n.443-3588G>C) c.*277G>C (n.*277G>C) c.141G>C (p.Glu47Asp) c.477G>C (p.Glu159Asp) | |
6 | g.31933731G>T | CA363496334 | C2 | c.378G>T (p.Glu126Asp) c.195G>T (p.Glu65Asp) c.564G>T (p.Glu188Asp) c.59G>T (p.Ser20Ile) c.159G>T (p.Glu53Asp) n.284G>T n.419G>T c.168G>T (p.Glu56Asp) c.158G>T c.443-3588G>T (n.443-3588G>T) c.*277G>T (n.*277G>T) c.141G>T (p.Glu47Asp) c.477G>T (p.Glu159Asp) | |
6 | g.31933732C>A | CA363496343 | C2 | c.379C>A (p.Arg127=) c.196C>A (p.Arg66=) c.565C>A (p.Arg189=) c.60C>A (p.Ser20Arg) c.160C>A (p.Arg54=) n.285C>A n.420C>A c.169C>A (p.Arg57=) c.159C>A c.443-3587C>A (n.443-3587C>A) c.*278C>A (n.*278C>A) c.142C>A (p.Arg48=) c.478C>A (p.Arg160=) | |
6 | g.31933732C= | CA1619369831 | C2 | c.379C= (p.Arg127=) c.196C= (p.Arg66=) c.565C= (p.Arg189=) c.60C= (p.Ser20=) c.160C= (p.Arg54=) n.285C= n.420C= c.169C= (p.Arg57=) c.159C= c.443-3587C= (n.443-3587C=) c.*278C= (n.*278C=) c.142C= (p.Arg48=) c.478C= (p.Arg160=) | |
6 | g.31933732C>G | CA363496345 | C2 | c.379C>G (p.Arg127Gly) c.196C>G (p.Arg66Gly) c.565C>G (p.Arg189Gly) c.60C>G (p.Ser20Arg) c.160C>G (p.Arg54Gly) n.285C>G n.420C>G c.169C>G (p.Arg57Gly) c.159C>G c.443-3587C>G (n.443-3587C>G) c.*278C>G (n.*278C>G) c.142C>G (p.Arg48Gly) c.478C>G (p.Arg160Gly) | gnomAD v4 |
6 | g.31933732C>T | CA3727428 | C2 | c.379C>T (p.Arg127Trp) c.196C>T (p.Arg66Trp) c.565C>T (p.Arg189Trp) c.60C>T (p.Ser20=) c.160C>T (p.Arg54Trp) n.285C>T n.420C>T c.169C>T (p.Arg57Trp) c.159C>T c.443-3587C>T (n.443-3587C>T) c.*278C>T (n.*278C>T) c.142C>T (p.Arg48Trp) c.478C>T (p.Arg160Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.31933733G>A | CA363496354 | C2 | c.380G>A (p.Arg127Gln) c.197G>A (p.Arg66Gln) c.566G>A (p.Arg189Gln) c.61G>A (p.Gly21Arg) c.161G>A (p.Arg54Gln) n.286G>A n.421G>A c.170G>A (p.Arg57Gln) c.160G>A c.443-3586G>A (n.443-3586G>A) c.*279G>A (n.*279G>A) c.143G>A (p.Arg48Gln) c.479G>A (p.Arg160Gln) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933733G>C | CA3727429 | C2 | c.380G>C (p.Arg127Pro) c.197G>C (p.Arg66Pro) c.566G>C (p.Arg189Pro) c.61G>C (p.Gly21Arg) c.161G>C (p.Arg54Pro) n.286G>C n.421G>C c.170G>C (p.Arg57Pro) c.160G>C c.443-3586G>C (n.443-3586G>C) c.*279G>C (n.*279G>C) c.143G>C (p.Arg48Pro) c.479G>C (p.Arg160Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933733G= | CA1619369832 | C2 | c.380G= (p.Arg127=) c.197G= (p.Arg66=) c.566G= (p.Arg189=) c.61G= (p.Gly21=) c.161G= (p.Arg54=) n.286G= n.421G= c.170G= (p.Arg57=) c.160G= c.443-3586G= (n.443-3586G=) c.*279G= (n.*279G=) c.143G= (p.Arg48=) c.479G= (p.Arg160=) | |
6 | g.31933733G>T | CA363496359 | C2 | c.380G>T (p.Arg127Leu) c.197G>T (p.Arg66Leu) c.566G>T (p.Arg189Leu) c.61G>T (p.Gly21Trp) c.161G>T (p.Arg54Leu) n.286G>T n.421G>T c.170G>T (p.Arg57Leu) c.160G>T c.443-3586G>T (n.443-3586G>T) c.*279G>T (n.*279G>T) c.143G>T (p.Arg48Leu) c.479G>T (p.Arg160Leu) | |
6 | g.31933734G>A | CA363496367 | C2 | c.381G>A (p.Arg127=) c.198G>A (p.Arg66=) c.567G>A (p.Arg189=) c.62G>A (p.Gly21Glu) c.162G>A (p.Arg54=) n.287G>A n.422G>A c.171G>A (p.Arg57=) c.161G>A c.443-3585G>A (n.443-3585G>A) c.*280G>A (n.*280G>A) c.144G>A (p.Arg48=) c.480G>A (p.Arg160=) | ClinVar dbSNP |
6 | g.31933734G>C | CA363496364 | C2 | c.381G>C (p.Arg127=) c.198G>C (p.Arg66=) c.567G>C (p.Arg189=) c.62G>C (p.Gly21Ala) c.162G>C (p.Arg54=) n.287G>C n.422G>C c.171G>C (p.Arg57=) c.161G>C c.443-3585G>C (n.443-3585G>C) c.*280G>C (n.*280G>C) c.144G>C (p.Arg48=) c.480G>C (p.Arg160=) | |
6 | g.31933734G= | CA1619369833 | C2 | c.381G= (p.Arg127=) c.198G= (p.Arg66=) c.567G= (p.Arg189=) c.62G= (p.Gly21=) c.162G= (p.Arg54=) n.287G= n.422G= c.171G= (p.Arg57=) c.161G= c.443-3585G= (n.443-3585G=) c.*280G= (n.*280G=) c.144G= (p.Arg48=) c.480G= (p.Arg160=) | |
6 | g.31933734G>T | CA363496365 | C2 | c.381G>T (p.Arg127=) c.198G>T (p.Arg66=) c.567G>T (p.Arg189=) c.62G>T (p.Gly21Val) c.162G>T (p.Arg54=) n.287G>T n.422G>T c.171G>T (p.Arg57=) c.161G>T c.443-3585G>T (n.443-3585G>T) c.*280G>T (n.*280G>T) c.144G>T (p.Arg48=) c.480G>T (p.Arg160=) | |
6 | g.31933735G>A | CA363496370 | C2 | c.382G>A (p.Glu128Lys) c.199G>A (p.Glu67Lys) c.568G>A (p.Glu190Lys) c.63G>A (p.Gly21=) c.163G>A (p.Glu55Lys) n.288G>A n.423G>A c.172G>A (p.Glu58Lys) c.162G>A c.443-3584G>A (n.443-3584G>A) c.*281G>A (n.*281G>A) c.145G>A (p.Glu49Lys) c.481G>A (p.Glu161Lys) | |
6 | g.31933735G>C | CA363496371 | C2 | c.382G>C (p.Glu128Gln) c.199G>C (p.Glu67Gln) c.568G>C (p.Glu190Gln) c.63G>C (p.Gly21=) c.163G>C (p.Glu55Gln) n.288G>C n.423G>C c.172G>C (p.Glu58Gln) c.162G>C c.443-3584G>C (n.443-3584G>C) c.*281G>C (n.*281G>C) c.145G>C (p.Glu49Gln) c.481G>C (p.Glu161Gln) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933735G= | CA1619369834 | C2 | c.382G= (p.Glu128=) c.199G= (p.Glu67=) c.568G= (p.Glu190=) c.63G= (p.Gly21=) c.163G= (p.Glu55=) n.288G= n.423G= c.172G= (p.Glu58=) c.162G= c.443-3584G= (n.443-3584G=) c.*281G= (n.*281G=) c.145G= (p.Glu49=) c.481G= (p.Glu161=) | |
6 | g.31933735G>T | CA363496378 | C2 | c.382G>T (p.Glu128Ter) c.199G>T (p.Glu67Ter) c.568G>T (p.Glu190Ter) c.63G>T (p.Gly21=) c.163G>T (p.Glu55Ter) n.288G>T n.423G>T c.172G>T (p.Glu58Ter) c.162G>T c.443-3584G>T (n.443-3584G>T) c.*281G>T (n.*281G>T) c.145G>T (p.Glu49Ter) c.481G>T (p.Glu161Ter) | |
6 | g.31933736A>C | CA363496388 | C2 | c.383A>C (p.Glu128Ala) c.200A>C (p.Glu67Ala) c.569A>C (p.Glu190Ala) c.64A>C (p.Ser22Arg) c.164A>C (p.Glu55Ala) n.289A>C n.424A>C c.173A>C (p.Glu58Ala) c.163A>C c.443-3583A>C (n.443-3583A>C) c.*282A>C (n.*282A>C) c.146A>C (p.Glu49Ala) c.482A>C (p.Glu161Ala) | |
6 | g.31933736A>G | CA363496391 | C2 | c.383A>G (p.Glu128Gly) c.200A>G (p.Glu67Gly) c.569A>G (p.Glu190Gly) c.64A>G (p.Ser22Gly) c.164A>G (p.Glu55Gly) n.289A>G n.424A>G c.173A>G (p.Glu58Gly) c.163A>G c.443-3583A>G (n.443-3583A>G) c.*282A>G (n.*282A>G) c.146A>G (p.Glu49Gly) c.482A>G (p.Glu161Gly) | |
6 | g.31933736A>T | CA363496392 | C2 | c.383A>T (p.Glu128Val) c.200A>T (p.Glu67Val) c.569A>T (p.Glu190Val) c.64A>T (p.Ser22Cys) c.164A>T (p.Glu55Val) n.289A>T n.424A>T c.173A>T (p.Glu58Val) c.163A>T c.443-3583A>T (n.443-3583A>T) c.*282A>T (n.*282A>T) c.146A>T (p.Glu49Val) c.482A>T (p.Glu161Val) | |
6 | g.31933737G>A | CA363496393 | C2 | c.384G>A (p.Glu128=) c.201G>A (p.Glu67=) c.570G>A (p.Glu190=) c.65G>A (p.Ser22Asn) c.165G>A (p.Glu55=) n.290G>A n.425G>A c.174G>A (p.Glu58=) c.164G>A c.443-3582G>A (n.443-3582G>A) c.*283G>A (n.*283G>A) c.147G>A (p.Glu49=) c.483G>A (p.Glu161=) | |
6 | g.31933737G>C | CA363496396 | C2 | c.384G>C (p.Glu128Asp) c.201G>C (p.Glu67Asp) c.570G>C (p.Glu190Asp) c.65G>C (p.Ser22Thr) c.165G>C (p.Glu55Asp) n.290G>C n.425G>C c.174G>C (p.Glu58Asp) c.164G>C c.443-3582G>C (n.443-3582G>C) c.*283G>C (n.*283G>C) c.147G>C (p.Glu49Asp) c.483G>C (p.Glu161Asp) | |
6 | g.31933737G>T | CA363496394 | C2 | c.384G>T (p.Glu128Asp) c.201G>T (p.Glu67Asp) c.570G>T (p.Glu190Asp) c.65G>T (p.Ser22Ile) c.165G>T (p.Glu55Asp) n.290G>T n.425G>T c.174G>T (p.Glu58Asp) c.164G>T c.443-3582G>T (n.443-3582G>T) c.*283G>T (n.*283G>T) c.147G>T (p.Glu49Asp) c.483G>T (p.Glu161Asp) | |
6 | g.31933738T>A | CA363496398 | C2 | c.385T>A (p.Cys129Ser) c.202T>A (p.Cys68Ser) c.571T>A (p.Cys191Ser) c.66T>A (p.Ser22Arg) c.166T>A (p.Cys56Ser) n.291T>A n.426T>A c.175T>A (p.Cys59Ser) c.165T>A c.443-3581T>A (n.443-3581T>A) c.*284T>A (n.*284T>A) c.148T>A (p.Cys50Ser) c.484T>A (p.Cys162Ser) | |
6 | g.31933738T>C | CA363496399 | C2 | c.385T>C (p.Cys129Arg) c.202T>C (p.Cys68Arg) c.571T>C (p.Cys191Arg) c.66T>C (p.Ser22=) c.166T>C (p.Cys56Arg) n.291T>C n.426T>C c.175T>C (p.Cys59Arg) c.165T>C c.443-3581T>C (n.443-3581T>C) c.*284T>C (n.*284T>C) c.148T>C (p.Cys50Arg) c.484T>C (p.Cys162Arg) | gnomAD v4 |
6 | g.31933738T>G | CA363496402 | C2 | c.385T>G (p.Cys129Gly) c.202T>G (p.Cys68Gly) c.571T>G (p.Cys191Gly) c.66T>G (p.Ser22Arg) c.166T>G (p.Cys56Gly) n.291T>G n.426T>G c.175T>G (p.Cys59Gly) c.165T>G c.443-3581T>G (n.443-3581T>G) c.*284T>G (n.*284T>G) c.148T>G (p.Cys50Gly) c.484T>G (p.Cys162Gly) | |
6 | g.31933739G>A | CA363496403 | C2 | c.386G>A (p.Cys129Tyr) c.203G>A (p.Cys68Tyr) c.572G>A (p.Cys191Tyr) c.67G>A (p.Ala23Thr) c.167G>A (p.Cys56Tyr) n.292G>A n.427G>A c.176G>A (p.Cys59Tyr) c.166G>A c.443-3580G>A (n.443-3580G>A) c.*285G>A (n.*285G>A) c.149G>A (p.Cys50Tyr) c.485G>A (p.Cys162Tyr) | |
6 | g.31933739G>C | CA363496406 | C2 | c.386G>C (p.Cys129Ser) c.203G>C (p.Cys68Ser) c.572G>C (p.Cys191Ser) c.67G>C (p.Ala23Pro) c.167G>C (p.Cys56Ser) n.292G>C n.427G>C c.176G>C (p.Cys59Ser) c.166G>C c.443-3580G>C (n.443-3580G>C) c.*285G>C (n.*285G>C) c.149G>C (p.Cys50Ser) c.485G>C (p.Cys162Ser) | |
6 | g.31933739G>T | CA363496408 | C2 | c.386G>T (p.Cys129Phe) c.203G>T (p.Cys68Phe) c.572G>T (p.Cys191Phe) c.67G>T (p.Ala23Ser) c.167G>T (p.Cys56Phe) n.292G>T n.427G>T c.176G>T (p.Cys59Phe) c.166G>T c.443-3580G>T (n.443-3580G>T) c.*285G>T (n.*285G>T) c.149G>T (p.Cys50Phe) c.485G>T (p.Cys162Phe) | |
6 | g.31933740C>A | CA3727430 | C2 | c.387C>A (p.Cys129Ter) c.204C>A (p.Cys68Ter) c.573C>A (p.Cys191Ter) c.68C>A (p.Ala23Asp) c.168C>A (p.Cys56Ter) n.293C>A n.428C>A c.177C>A (p.Cys59Ter) c.167C>A c.443-3579C>A (n.443-3579C>A) c.*286C>A (n.*286C>A) c.150C>A (p.Cys50Ter) c.486C>A (p.Cys162Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933740C= | CA1619369835 | C2 | c.387C= (p.Cys129=) c.204C= (p.Cys68=) c.573C= (p.Cys191=) c.68C= (p.Ala23=) c.168C= (p.Cys56=) n.293C= n.428C= c.177C= (p.Cys59=) c.167C= c.443-3579C= (n.443-3579C=) c.*286C= (n.*286C=) c.150C= (p.Cys50=) c.486C= (p.Cys162=) | |
6 | g.31933740C>G | CA136929048 | C2 | c.387C>G (p.Cys129Trp) c.204C>G (p.Cys68Trp) c.573C>G (p.Cys191Trp) c.68C>G (p.Ala23Gly) c.168C>G (p.Cys56Trp) n.293C>G n.428C>G c.177C>G (p.Cys59Trp) c.167C>G c.443-3579C>G (n.443-3579C>G) c.*286C>G (n.*286C>G) c.150C>G (p.Cys50Trp) c.486C>G (p.Cys162Trp) | dbSNP |
6 | g.31933740C>T | CA363496413 | C2 | c.387C>T (p.Cys129=) c.204C>T (p.Cys68=) c.573C>T (p.Cys191=) c.68C>T (p.Ala23Val) c.168C>T (p.Cys56=) n.293C>T n.428C>T c.177C>T (p.Cys59=) c.167C>T c.443-3579C>T (n.443-3579C>T) c.*286C>T (n.*286C>T) c.150C>T (p.Cys50=) c.486C>T (p.Cys162=) | |
6 | g.31933741C>A | CA363496417 | C2 | c.388C>A (p.Gln130Lys) c.205C>A (p.Gln69Lys) c.574C>A (p.Gln192Lys) c.69C>A (p.Ala23=) c.169C>A (p.Gln57Lys) n.294C>A n.429C>A c.178C>A (p.Gln60Lys) c.168C>A c.443-3578C>A (n.443-3578C>A) c.*287C>A (n.*287C>A) c.151C>A (p.Gln51Lys) c.487C>A (p.Gln163Lys) | |
6 | g.31933741C= | CA1619369836 | C2 | c.388C= (p.Gln130=) c.205C= (p.Gln69=) c.574C= (p.Gln192=) c.69C= (p.Ala23=) c.169C= (p.Gln57=) n.294C= n.429C= c.178C= (p.Gln60=) c.168C= c.443-3578C= (n.443-3578C=) c.*287C= (n.*287C=) c.151C= (p.Gln51=) c.487C= (p.Gln163=) | |
6 | g.31933741C>G | CA363496420 | C2 | c.388C>G (p.Gln130Glu) c.205C>G (p.Gln69Glu) c.574C>G (p.Gln192Glu) c.69C>G (p.Ala23=) c.169C>G (p.Gln57Glu) n.294C>G n.429C>G c.178C>G (p.Gln60Glu) c.168C>G c.443-3578C>G (n.443-3578C>G) c.*287C>G (n.*287C>G) c.151C>G (p.Gln51Glu) c.487C>G (p.Gln163Glu) | |
6 | g.31933741C>T | CA363496426 | C2 | c.388C>T (p.Gln130Ter) c.205C>T (p.Gln69Ter) c.574C>T (p.Gln192Ter) c.69C>T (p.Ala23=) c.169C>T (p.Gln57Ter) n.294C>T n.429C>T c.178C>T (p.Gln60Ter) c.168C>T c.443-3578C>T (n.443-3578C>T) c.*287C>T (n.*287C>T) c.151C>T (p.Gln51Ter) c.487C>T (p.Gln163Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933742A>C | CA363496429 | C2 | c.389A>C (p.Gln130Pro) c.206A>C (p.Gln69Pro) c.575A>C (p.Gln192Pro) c.70A>C (p.Arg24=) c.170A>C (p.Gln57Pro) n.295A>C n.430A>C c.179A>C (p.Gln60Pro) c.169A>C c.443-3577A>C (n.443-3577A>C) c.*288A>C (n.*288A>C) c.152A>C (p.Gln51Pro) c.488A>C (p.Gln163Pro) | |
6 | g.31933742A>G | CA363496436 | C2 | c.389A>G (p.Gln130Arg) c.206A>G (p.Gln69Arg) c.575A>G (p.Gln192Arg) c.70A>G (p.Arg24Gly) c.170A>G (p.Gln57Arg) n.295A>G n.430A>G c.179A>G (p.Gln60Arg) c.169A>G c.443-3577A>G (n.443-3577A>G) c.*288A>G (n.*288A>G) c.152A>G (p.Gln51Arg) c.488A>G (p.Gln163Arg) | gnomAD v4 |
6 | g.31933742A>T | CA363496432 | C2 | c.389A>T (p.Gln130Leu) c.206A>T (p.Gln69Leu) c.575A>T (p.Gln192Leu) c.70A>T (p.Arg24Trp) c.170A>T (p.Gln57Leu) n.295A>T n.430A>T c.179A>T (p.Gln60Leu) c.169A>T c.443-3577A>T (n.443-3577A>T) c.*288A>T (n.*288A>T) c.152A>T (p.Gln51Leu) c.488A>T (p.Gln163Leu) | |
6 | g.31933743G>A | CA363496438 | C2 | c.390G>A (p.Gln130=) c.207G>A (p.Gln69=) c.576G>A (p.Gln192=) c.71G>A (p.Arg24Lys) c.171G>A (p.Gln57=) n.296G>A n.431G>A c.180G>A (p.Gln60=) c.170G>A c.443-3576G>A (n.443-3576G>A) c.*289G>A (n.*289G>A) c.153G>A (p.Gln51=) c.489G>A (p.Gln163=) | |
6 | g.31933743G>C | CA363496441 | C2 | c.390G>C (p.Gln130His) c.207G>C (p.Gln69His) c.576G>C (p.Gln192His) c.71G>C (p.Arg24Thr) c.171G>C (p.Gln57His) n.296G>C n.431G>C c.180G>C (p.Gln60His) c.170G>C c.443-3576G>C (n.443-3576G>C) c.*289G>C (n.*289G>C) c.153G>C (p.Gln51His) c.489G>C (p.Gln163His) | |
6 | g.31933743G>T | CA363496444 | C2 | c.390G>T (p.Gln130His) c.207G>T (p.Gln69His) c.576G>T (p.Gln192His) c.71G>T (p.Arg24Met) c.171G>T (p.Gln57His) n.296G>T n.431G>T c.180G>T (p.Gln60His) c.170G>T c.443-3576G>T (n.443-3576G>T) c.*289G>T (n.*289G>T) c.153G>T (p.Gln51His) c.489G>T (p.Gln163His) | |
6 | g.31933744G>A | CA136929051 | C2 | c.391G>A (p.Gly131Ser) c.208G>A (p.Gly70Ser) c.577G>A (p.Gly193Ser) c.72G>A (p.Arg24=) c.172G>A (p.Gly58Ser) n.297G>A n.432G>A c.181G>A (p.Gly61Ser) c.171G>A c.443-3575G>A (n.443-3575G>A) c.*290G>A (n.*290G>A) c.154G>A (p.Gly52Ser) c.490G>A (p.Gly164Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933744G>C | CA363496452 | C2 | c.391G>C (p.Gly131Arg) c.208G>C (p.Gly70Arg) c.577G>C (p.Gly193Arg) c.72G>C (p.Arg24Ser) c.172G>C (p.Gly58Arg) n.297G>C n.432G>C c.181G>C (p.Gly61Arg) c.171G>C c.443-3575G>C (n.443-3575G>C) c.*290G>C (n.*290G>C) c.154G>C (p.Gly52Arg) c.490G>C (p.Gly164Arg) | |
6 | g.31933744G= | CA1619369837 | C2 | c.391G= (p.Gly131=) c.208G= (p.Gly70=) c.577G= (p.Gly193=) c.72G= (p.Arg24=) c.172G= (p.Gly58=) n.297G= n.432G= c.181G= (p.Gly61=) c.171G= c.443-3575G= (n.443-3575G=) c.*290G= (n.*290G=) c.154G= (p.Gly52=) c.490G= (p.Gly164=) | |
6 | g.31933744G>T | CA363496454 | C2 | c.391G>T (p.Gly131Cys) c.208G>T (p.Gly70Cys) c.577G>T (p.Gly193Cys) c.72G>T (p.Arg24Ser) c.172G>T (p.Gly58Cys) n.297G>T n.432G>T c.181G>T (p.Gly61Cys) c.171G>T c.443-3575G>T (n.443-3575G>T) c.*290G>T (n.*290G>T) c.154G>T (p.Gly52Cys) c.490G>T (p.Gly164Cys) | |
6 | g.31933745G>A | CA363496456 | C2 | c.392G>A (p.Gly131Asp) c.209G>A (p.Gly70Asp) c.578G>A (p.Gly193Asp) c.73G>A (p.Ala25Thr) c.173G>A (p.Gly58Asp) n.298G>A n.433G>A c.182G>A (p.Gly61Asp) c.172G>A c.443-3574G>A (n.443-3574G>A) c.*291G>A (n.*291G>A) c.155G>A (p.Gly52Asp) c.491G>A (p.Gly164Asp) | gnomAD v4 |
6 | g.31933745G>C | CA363496461 | C2 | c.392G>C (p.Gly131Ala) c.209G>C (p.Gly70Ala) c.578G>C (p.Gly193Ala) c.73G>C (p.Ala25Pro) c.173G>C (p.Gly58Ala) n.298G>C n.433G>C c.182G>C (p.Gly61Ala) c.172G>C c.443-3574G>C (n.443-3574G>C) c.*291G>C (n.*291G>C) c.155G>C (p.Gly52Ala) c.491G>C (p.Gly164Ala) | |
6 | g.31933745G>T | CA363496463 | C2 | c.392G>T (p.Gly131Val) c.209G>T (p.Gly70Val) c.578G>T (p.Gly193Val) c.73G>T (p.Ala25Ser) c.173G>T (p.Gly58Val) n.298G>T n.433G>T c.182G>T (p.Gly61Val) c.172G>T c.443-3574G>T (n.443-3574G>T) c.*291G>T (n.*291G>T) c.155G>T (p.Gly52Val) c.491G>T (p.Gly164Val) | |
6 | g.31933746C>A | CA3727431 | C2 | c.393C>A (p.Gly131=) c.210C>A (p.Gly70=) c.579C>A (p.Gly193=) c.74C>A (p.Ala25Glu) c.174C>A (p.Gly58=) n.299C>A n.434C>A c.183C>A (p.Gly61=) c.173C>A c.443-3573C>A (n.443-3573C>A) c.*292C>A (n.*292C>A) c.156C>A (p.Gly52=) c.492C>A (p.Gly164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933746C= | CA1619369838 | C2 | c.393C= (p.Gly131=) c.210C= (p.Gly70=) c.579C= (p.Gly193=) c.74C= (p.Ala25=) c.174C= (p.Gly58=) n.299C= n.434C= c.183C= (p.Gly61=) c.173C= c.443-3573C= (n.443-3573C=) c.*292C= (n.*292C=) c.156C= (p.Gly52=) c.492C= (p.Gly164=) | |
6 | g.31933746C>G | CA363496467 | C2 | c.393C>G (p.Gly131=) c.210C>G (p.Gly70=) c.579C>G (p.Gly193=) c.74C>G (p.Ala25Gly) c.174C>G (p.Gly58=) n.299C>G n.434C>G c.183C>G (p.Gly61=) c.173C>G c.443-3573C>G (n.443-3573C>G) c.*292C>G (n.*292C>G) c.156C>G (p.Gly52=) c.492C>G (p.Gly164=) | |
6 | g.31933746C>T | CA3727432 | C2 | c.393C>T (p.Gly131=) c.210C>T (p.Gly70=) c.579C>T (p.Gly193=) c.74C>T (p.Ala25Val) c.174C>T (p.Gly58=) n.299C>T n.434C>T c.183C>T (p.Gly61=) c.173C>T c.443-3573C>T (n.443-3573C>T) c.*292C>T (n.*292C>T) c.156C>T (p.Gly52=) c.492C>T (p.Gly164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933747A>C | CA363496476 | C2 | c.394A>C (p.Asn132His) c.211A>C (p.Asn71His) c.580A>C (p.Asn194His) c.75A>C (p.Ala25=) c.175A>C (p.Asn59His) n.300A>C n.435A>C c.184A>C (p.Asn62His) c.174A>C c.443-3572A>C (n.443-3572A>C) c.*293A>C (n.*293A>C) c.157A>C (p.Asn53His) c.493A>C (p.Asn165His) | |
6 | g.31933747A>G | CA363496475 | C2 | c.394A>G (p.Asn132Asp) c.211A>G (p.Asn71Asp) c.580A>G (p.Asn194Asp) c.75A>G (p.Ala25=) c.175A>G (p.Asn59Asp) n.300A>G n.435A>G c.184A>G (p.Asn62Asp) c.174A>G c.443-3572A>G (n.443-3572A>G) c.*293A>G (n.*293A>G) c.157A>G (p.Asn53Asp) c.493A>G (p.Asn165Asp) | ClinVar |
6 | g.31933747A>T | CA363496472 | C2 | c.394A>T (p.Asn132Tyr) c.211A>T (p.Asn71Tyr) c.580A>T (p.Asn194Tyr) c.75A>T (p.Ala25=) c.175A>T (p.Asn59Tyr) n.300A>T n.435A>T c.184A>T (p.Asn62Tyr) c.174A>T c.443-3572A>T (n.443-3572A>T) c.*293A>T (n.*293A>T) c.157A>T (p.Asn53Tyr) c.493A>T (p.Asn165Tyr) | |
6 | g.31933748A= | CA1619369839 | C2 | c.395A= (p.Asn132=) c.212A= (p.Asn71=) c.581A= (p.Asn194=) c.76A= (p.Thr26=) c.176A= (p.Asn59=) n.301A= n.436A= c.185A= (p.Asn62=) c.175A= c.443-3571A= (n.443-3571A=) c.*294A= (n.*294A=) c.158A= (p.Asn53=) c.494A= (p.Asn165=) | |
6 | g.31933748A>C | CA363496477 | C2 | c.395A>C (p.Asn132Thr) c.212A>C (p.Asn71Thr) c.581A>C (p.Asn194Thr) c.76A>C (p.Thr26Pro) c.176A>C (p.Asn59Thr) n.301A>C n.436A>C c.185A>C (p.Asn62Thr) c.175A>C c.443-3571A>C (n.443-3571A>C) c.*294A>C (n.*294A>C) c.158A>C (p.Asn53Thr) c.494A>C (p.Asn165Thr) | |
6 | g.31933748A>G | CA363496479 | C2 | c.395A>G (p.Asn132Ser) c.212A>G (p.Asn71Ser) c.581A>G (p.Asn194Ser) c.76A>G (p.Thr26Ala) c.176A>G (p.Asn59Ser) n.301A>G n.436A>G c.185A>G (p.Asn62Ser) c.175A>G c.443-3571A>G (n.443-3571A>G) c.*294A>G (n.*294A>G) c.158A>G (p.Asn53Ser) c.494A>G (p.Asn165Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933748A>T | CA363496484 | C2 | c.395A>T (p.Asn132Ile) c.212A>T (p.Asn71Ile) c.581A>T (p.Asn194Ile) c.76A>T (p.Thr26Ser) c.176A>T (p.Asn59Ile) n.301A>T n.436A>T c.185A>T (p.Asn62Ile) c.175A>T c.443-3571A>T (n.443-3571A>T) c.*294A>T (n.*294A>T) c.158A>T (p.Asn53Ile) c.494A>T (p.Asn165Ile) | |
6 | g.31933749C>A | CA363496488 | C2 | c.396C>A (p.Asn132Lys) c.213C>A (p.Asn71Lys) c.582C>A (p.Asn194Lys) c.77C>A (p.Thr26Lys) c.177C>A (p.Asn59Lys) n.302C>A n.437C>A c.186C>A (p.Asn62Lys) c.176C>A c.443-3570C>A (n.443-3570C>A) c.*295C>A (n.*295C>A) c.159C>A (p.Asn53Lys) c.495C>A (p.Asn165Lys) | |
6 | g.31933749C= | CA1619369840 | C2 | c.396C= (p.Asn132=) c.213C= (p.Asn71=) c.582C= (p.Asn194=) c.77C= (p.Thr26=) c.177C= (p.Asn59=) n.302C= n.437C= c.186C= (p.Asn62=) c.176C= c.443-3570C= (n.443-3570C=) c.*295C= (n.*295C=) c.159C= (p.Asn53=) c.495C= (p.Asn165=) | |
6 | g.31933749C>G | CA363496499 | C2 | c.396C>G (p.Asn132Lys) c.213C>G (p.Asn71Lys) c.582C>G (p.Asn194Lys) c.77C>G (p.Thr26Arg) c.177C>G (p.Asn59Lys) n.302C>G n.437C>G c.186C>G (p.Asn62Lys) c.176C>G c.443-3570C>G (n.443-3570C>G) c.*295C>G (n.*295C>G) c.159C>G (p.Asn53Lys) c.495C>G (p.Asn165Lys) | |
6 | g.31933749C>T | CA3727434 | C2 | c.396C>T (p.Asn132=) c.213C>T (p.Asn71=) c.582C>T (p.Asn194=) c.77C>T (p.Thr26Met) c.177C>T (p.Asn59=) n.302C>T n.437C>T c.186C>T (p.Asn62=) c.176C>T c.443-3570C>T (n.443-3570C>T) c.*295C>T (n.*295C>T) c.159C>T (p.Asn53=) c.495C>T (p.Asn165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.31933749_31933750delinsCG | CA1619369841 | C2 | c.396_397delinsCG (p.Asn132=) c.213_214delinsCG (p.Asn71=) c.582_583delinsCG (p.Asn194=) c.77_78delinsCG (p.Thr26=) c.177_178delinsCG (p.Asn59=) n.302_303delinsCG n.437_438delinsCG c.186_187delinsCG (p.Asn62=) c.176_177delinsCG c.443-3570_443-3569delinsCG (n.443-3570_443-3569delinsCG) c.*295_*296delinsCG (n.*295_*296delinsCG) c.159_160delinsCG (p.Asn53=) c.495_496delinsCG (p.Asn165=) | |
6 | g.31933750G>A | CA363496509 | C2 | c.397G>A (p.Gly133Arg) c.214G>A (p.Gly72Arg) c.583G>A (p.Gly195Arg) c.78G>A (p.Thr26=) c.178G>A (p.Gly60Arg) n.303G>A n.438G>A c.187G>A (p.Gly63Arg) c.177G>A c.443-3569G>A (n.443-3569G>A) c.*296G>A (n.*296G>A) c.160G>A (p.Gly54Arg) c.496G>A (p.Gly166Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933750G>C | CA363496510 | C2 | c.397G>C (p.Gly133Arg) c.214G>C (p.Gly72Arg) c.583G>C (p.Gly195Arg) c.78G>C (p.Thr26=) c.178G>C (p.Gly60Arg) n.303G>C n.438G>C c.187G>C (p.Gly63Arg) c.177G>C c.443-3569G>C (n.443-3569G>C) c.*296G>C (n.*296G>C) c.160G>C (p.Gly54Arg) c.496G>C (p.Gly166Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933750G= | CA1619369842 | C2 | c.397G= (p.Gly133=) c.214G= (p.Gly72=) c.583G= (p.Gly195=) c.78G= (p.Thr26=) c.178G= (p.Gly60=) n.303G= n.438G= c.187G= (p.Gly63=) c.177G= c.443-3569G= (n.443-3569G=) c.*296G= (n.*296G=) c.160G= (p.Gly54=) c.496G= (p.Gly166=) | |
6 | g.31933750G>T | CA363496512 | C2 | c.397G>T (p.Gly133Trp) c.214G>T (p.Gly72Trp) c.583G>T (p.Gly195Trp) c.78G>T (p.Thr26=) c.178G>T (p.Gly60Trp) n.303G>T n.438G>T c.187G>T (p.Gly63Trp) c.177G>T c.443-3569G>T (n.443-3569G>T) c.*296G>T (n.*296G>T) c.160G>T (p.Gly54Trp) c.496G>T (p.Gly166Trp) | |
6 | g.31933753del | CA3727433 | C2 | c.400del (p.Val134SerfsTer?) c.217del (p.Val73SerfsTer?) c.586del (p.Val196SerfsTer?) c.81del (p.Ser28LeufsTer15) c.181del (p.Val61SerfsTer?) n.306del n.441del c.190del (p.Val64SerfsTer?) c.180del c.81del (p.Ser28LeufsTer18) c.443-3566del (n.443-3566del) c.*299del (n.*299del) c.163del (p.Val55SerfsTer?) c.499del (p.Val167SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933751G>A | CA3727435 | C2 | c.398G>A (p.Gly133Glu) c.215G>A (p.Gly72Glu) c.584G>A (p.Gly195Glu) c.79G>A (p.Gly27Arg) c.179G>A (p.Gly60Glu) n.304G>A n.439G>A c.188G>A (p.Gly63Glu) c.178G>A c.443-3568G>A (n.443-3568G>A) c.*297G>A (n.*297G>A) c.161G>A (p.Gly54Glu) c.497G>A (p.Gly166Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933751G>C | CA363496529 | C2 | c.398G>C (p.Gly133Ala) c.215G>C (p.Gly72Ala) c.584G>C (p.Gly195Ala) c.79G>C (p.Gly27Arg) c.179G>C (p.Gly60Ala) n.304G>C n.439G>C c.188G>C (p.Gly63Ala) c.178G>C c.443-3568G>C (n.443-3568G>C) c.*297G>C (n.*297G>C) c.161G>C (p.Gly54Ala) c.497G>C (p.Gly166Ala) | |
6 | g.31933751G= | CA1619369843 | C2 | c.398G= (p.Gly133=) c.215G= (p.Gly72=) c.584G= (p.Gly195=) c.79G= (p.Gly27=) c.179G= (p.Gly60=) n.304G= n.439G= c.188G= (p.Gly63=) c.178G= c.443-3568G= (n.443-3568G=) c.*297G= (n.*297G=) c.161G= (p.Gly54=) c.497G= (p.Gly166=) | |
6 | g.31933751G>T | CA363496530 | C2 | c.398G>T (p.Gly133Val) c.215G>T (p.Gly72Val) c.584G>T (p.Gly195Val) c.79G>T (p.Gly27Trp) c.179G>T (p.Gly60Val) n.304G>T n.439G>T c.188G>T (p.Gly63Val) c.178G>T c.443-3568G>T (n.443-3568G>T) c.*297G>T (n.*297G>T) c.161G>T (p.Gly54Val) c.497G>T (p.Gly166Val) | |
6 | g.31933752G>A | CA363496534 | C2 | c.399G>A (p.Gly133=) c.216G>A (p.Gly72=) c.585G>A (p.Gly195=) c.80G>A (p.Gly27Glu) c.180G>A (p.Gly60=) n.305G>A n.440G>A c.189G>A (p.Gly63=) c.179G>A c.443-3567G>A (n.443-3567G>A) c.*298G>A (n.*298G>A) c.162G>A (p.Gly54=) c.498G>A (p.Gly166=) | |
6 | g.31933752G>C | CA363496535 | C2 | c.399G>C (p.Gly133=) c.216G>C (p.Gly72=) c.585G>C (p.Gly195=) c.80G>C (p.Gly27Ala) c.180G>C (p.Gly60=) n.305G>C n.440G>C c.189G>C (p.Gly63=) c.179G>C c.443-3567G>C (n.443-3567G>C) c.*298G>C (n.*298G>C) c.162G>C (p.Gly54=) c.498G>C (p.Gly166=) | |
6 | g.31933752G>T | CA363496533 | C2 | c.399G>T (p.Gly133=) c.216G>T (p.Gly72=) c.585G>T (p.Gly195=) c.80G>T (p.Gly27Val) c.180G>T (p.Gly60=) n.305G>T n.440G>T c.189G>T (p.Gly63=) c.179G>T c.443-3567G>T (n.443-3567G>T) c.*298G>T (n.*298G>T) c.162G>T (p.Gly54=) c.498G>T (p.Gly166=) | |
6 | g.31933753G>A | CA3727436 | C2 | c.400G>A (p.Val134Ile) c.217G>A (p.Val73Ile) c.586G>A (p.Val196Ile) c.81G>A (p.Gly27=) c.181G>A (p.Val61Ile) n.306G>A n.441G>A c.190G>A (p.Val64Ile) c.180G>A c.443-3566G>A (n.443-3566G>A) c.*299G>A (n.*299G>A) c.163G>A (p.Val55Ile) c.499G>A (p.Val167Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933753G>C | CA363496537 | C2 | c.400G>C (p.Val134Leu) c.217G>C (p.Val73Leu) c.586G>C (p.Val196Leu) c.81G>C (p.Gly27=) c.181G>C (p.Val61Leu) n.306G>C n.441G>C c.190G>C (p.Val64Leu) c.180G>C c.443-3566G>C (n.443-3566G>C) c.*299G>C (n.*299G>C) c.163G>C (p.Val55Leu) c.499G>C (p.Val167Leu) | |
6 | g.31933753G= | CA1619369844 | C2 | c.400G= (p.Val134=) c.217G= (p.Val73=) c.586G= (p.Val196=) c.81G= (p.Gly27=) c.181G= (p.Val61=) n.306G= n.441G= c.190G= (p.Val64=) c.180G= c.443-3566G= (n.443-3566G=) c.*299G= (n.*299G=) c.163G= (p.Val55=) c.499G= (p.Val167=) | |
6 | g.31933753G>T | CA363496539 | C2 | c.400G>T (p.Val134Phe) c.217G>T (p.Val73Phe) c.586G>T (p.Val196Phe) c.81G>T (p.Gly27=) c.181G>T (p.Val61Phe) n.306G>T n.441G>T c.190G>T (p.Val64Phe) c.180G>T c.443-3566G>T (n.443-3566G>T) c.*299G>T (n.*299G>T) c.163G>T (p.Val55Phe) c.499G>T (p.Val167Phe) | |
6 | g.31933754T>A | CA363496541 | C2 | c.401T>A (p.Val134Asp) c.218T>A (p.Val73Asp) c.587T>A (p.Val196Asp) c.82T>A (p.Ser28Thr) c.182T>A (p.Val61Asp) n.307T>A n.442T>A c.191T>A (p.Val64Asp) c.181T>A c.443-3565T>A (n.443-3565T>A) c.*300T>A (n.*300T>A) c.164T>A (p.Val55Asp) c.500T>A (p.Val167Asp) | dbSNP gnomAD v4 |
6 | g.31933754T>C | CA363496543 | C2 | c.401T>C (p.Val134Ala) c.218T>C (p.Val73Ala) c.587T>C (p.Val196Ala) c.82T>C (p.Ser28Pro) c.182T>C (p.Val61Ala) n.307T>C n.442T>C c.191T>C (p.Val64Ala) c.181T>C c.443-3565T>C (n.443-3565T>C) c.*300T>C (n.*300T>C) c.164T>C (p.Val55Ala) c.500T>C (p.Val167Ala) | |
6 | g.31933754T>G | CA363496546 | C2 | c.401T>G (p.Val134Gly) c.218T>G (p.Val73Gly) c.587T>G (p.Val196Gly) c.82T>G (p.Ser28Ala) c.182T>G (p.Val61Gly) n.307T>G n.442T>G c.191T>G (p.Val64Gly) c.181T>G c.443-3565T>G (n.443-3565T>G) c.*300T>G (n.*300T>G) c.164T>G (p.Val55Gly) c.500T>G (p.Val167Gly) | |
6 | g.31933754T= | CA1619369845 | C2 | c.401T= (p.Val134=) c.218T= (p.Val73=) c.587T= (p.Val196=) c.82T= (p.Ser28=) c.182T= (p.Val61=) n.307T= n.442T= c.191T= (p.Val64=) c.181T= c.443-3565T= (n.443-3565T=) c.*300T= (n.*300T=) c.164T= (p.Val55=) c.500T= (p.Val167=) | |
6 | g.31933755C>A | CA363496577 | C2 | c.402C>A (p.Val134=) c.219C>A (p.Val73=) c.588C>A (p.Val196=) c.83C>A (p.Ser28Tyr) c.183C>A (p.Val61=) n.308C>A n.443C>A c.192C>A (p.Val64=) c.182C>A c.443-3564C>A (n.443-3564C>A) c.*301C>A (n.*301C>A) c.165C>A (p.Val55=) c.501C>A (p.Val167=) | |
6 | g.31933755C= | CA1619369846 | C2 | c.402C= (p.Val134=) c.219C= (p.Val73=) c.588C= (p.Val196=) c.83C= (p.Ser28=) c.183C= (p.Val61=) n.308C= n.443C= c.192C= (p.Val64=) c.182C= c.443-3564C= (n.443-3564C=) c.*301C= (n.*301C=) c.165C= (p.Val55=) c.501C= (p.Val167=) | |
6 | g.31933755C>G | CA363496565 | C2 | c.402C>G (p.Val134=) c.219C>G (p.Val73=) c.588C>G (p.Val196=) c.83C>G (p.Ser28Cys) c.183C>G (p.Val61=) n.308C>G n.443C>G c.192C>G (p.Val64=) c.182C>G c.443-3564C>G (n.443-3564C>G) c.*301C>G (n.*301C>G) c.165C>G (p.Val55=) c.501C>G (p.Val167=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933755C>T | CA363496569 | C2 | c.402C>T (p.Val134=) c.219C>T (p.Val73=) c.588C>T (p.Val196=) c.83C>T (p.Ser28Phe) c.183C>T (p.Val61=) n.308C>T n.443C>T c.192C>T (p.Val64=) c.182C>T c.443-3564C>T (n.443-3564C>T) c.*301C>T (n.*301C>T) c.165C>T (p.Val55=) c.501C>T (p.Val167=) | COSMIC |
6 | g.31933756T>A | CA363496580 | C2 | c.403T>A (p.Trp135Arg) c.220T>A (p.Trp74Arg) c.589T>A (p.Trp197Arg) c.84T>A (p.Ser28=) c.184T>A (p.Trp62Arg) n.309T>A n.444T>A c.193T>A (p.Trp65Arg) c.183T>A c.443-3563T>A (n.443-3563T>A) c.*302T>A (n.*302T>A) c.166T>A (p.Trp56Arg) c.502T>A (p.Trp168Arg) | |
6 | g.31933756T>C | CA363496582 | C2 | c.403T>C (p.Trp135Arg) c.220T>C (p.Trp74Arg) c.589T>C (p.Trp197Arg) c.84T>C (p.Ser28=) c.184T>C (p.Trp62Arg) n.309T>C n.444T>C c.193T>C (p.Trp65Arg) c.183T>C c.443-3563T>C (n.443-3563T>C) c.*302T>C (n.*302T>C) c.166T>C (p.Trp56Arg) c.502T>C (p.Trp168Arg) | |
6 | g.31933756T>G | CA363496584 | C2 | c.403T>G (p.Trp135Gly) c.220T>G (p.Trp74Gly) c.589T>G (p.Trp197Gly) c.84T>G (p.Ser28=) c.184T>G (p.Trp62Gly) n.309T>G n.444T>G c.193T>G (p.Trp65Gly) c.183T>G c.443-3563T>G (n.443-3563T>G) c.*302T>G (n.*302T>G) c.166T>G (p.Trp56Gly) c.502T>G (p.Trp168Gly) | |
6 | g.31933757G>A | CA363496586 | C2 | c.404G>A (p.Trp135Ter) c.221G>A (p.Trp74Ter) c.590G>A (p.Trp197Ter) c.85G>A (p.Gly29Arg) c.185G>A (p.Trp62Ter) n.310G>A n.445G>A c.194G>A (p.Trp65Ter) c.184G>A c.443-3562G>A (n.443-3562G>A) c.*303G>A (n.*303G>A) c.167G>A (p.Trp56Ter) c.503G>A (p.Trp168Ter) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933757G>C | CA363496587 | C2 | c.404G>C (p.Trp135Ser) c.221G>C (p.Trp74Ser) c.590G>C (p.Trp197Ser) c.85G>C (p.Gly29Arg) c.185G>C (p.Trp62Ser) n.310G>C n.445G>C c.194G>C (p.Trp65Ser) c.184G>C c.443-3562G>C (n.443-3562G>C) c.*303G>C (n.*303G>C) c.167G>C (p.Trp56Ser) c.503G>C (p.Trp168Ser) | |
6 | g.31933757G= | CA1619369847 | C2 | c.404G= (p.Trp135=) c.221G= (p.Trp74=) c.590G= (p.Trp197=) c.85G= (p.Gly29=) c.185G= (p.Trp62=) n.310G= n.445G= c.194G= (p.Trp65=) c.184G= c.443-3562G= (n.443-3562G=) c.*303G= (n.*303G=) c.167G= (p.Trp56=) c.503G= (p.Trp168=) | |
6 | g.31933757G>T | CA363496590 | C2 | c.404G>T (p.Trp135Leu) c.221G>T (p.Trp74Leu) c.590G>T (p.Trp197Leu) c.85G>T (p.Gly29Ter) c.185G>T (p.Trp62Leu) n.310G>T n.445G>T c.194G>T (p.Trp65Leu) c.184G>T c.443-3562G>T (n.443-3562G>T) c.*303G>T (n.*303G>T) c.167G>T (p.Trp56Leu) c.503G>T (p.Trp168Leu) | |
6 | g.31933758G>A | CA363496594 | C2 | c.405G>A (p.Trp135Ter) c.222G>A (p.Trp74Ter) c.591G>A (p.Trp197Ter) c.86G>A (p.Gly29Glu) c.186G>A (p.Trp62Ter) n.311G>A n.446G>A c.195G>A (p.Trp65Ter) c.185G>A c.443-3561G>A (n.443-3561G>A) c.*304G>A (n.*304G>A) c.168G>A (p.Trp56Ter) c.504G>A (p.Trp168Ter) | dbSNP |
6 | g.31933758G>C | CA363496607 | C2 | c.405G>C (p.Trp135Cys) c.222G>C (p.Trp74Cys) c.591G>C (p.Trp197Cys) c.86G>C (p.Gly29Ala) c.186G>C (p.Trp62Cys) n.311G>C n.446G>C c.195G>C (p.Trp65Cys) c.185G>C c.443-3561G>C (n.443-3561G>C) c.*304G>C (n.*304G>C) c.168G>C (p.Trp56Cys) c.504G>C (p.Trp168Cys) | |
6 | g.31933758G= | CA1619369848 | C2 | c.405G= (p.Trp135=) c.222G= (p.Trp74=) c.591G= (p.Trp197=) c.86G= (p.Gly29=) c.186G= (p.Trp62=) n.311G= n.446G= c.195G= (p.Trp65=) c.185G= c.443-3561G= (n.443-3561G=) c.*304G= (n.*304G=) c.168G= (p.Trp56=) c.504G= (p.Trp168=) | |
6 | g.31933758G>T | CA363496603 | C2 | c.405G>T (p.Trp135Cys) c.222G>T (p.Trp74Cys) c.591G>T (p.Trp197Cys) c.86G>T (p.Gly29Val) c.186G>T (p.Trp62Cys) n.311G>T n.446G>T c.195G>T (p.Trp65Cys) c.185G>T c.443-3561G>T (n.443-3561G>T) c.*304G>T (n.*304G>T) c.168G>T (p.Trp56Cys) c.504G>T (p.Trp168Cys) | |
6 | g.31933759A= | CA1619369849 | C2 | c.406A= (p.Ser136=) c.223A= (p.Ser75=) c.592A= (p.Ser198=) c.87A= (p.Gly29=) c.187A= (p.Ser63=) n.312A= n.447A= c.196A= (p.Ser66=) c.186A= c.443-3560A= (n.443-3560A=) c.*305A= (n.*305A=) c.169A= (p.Ser57=) c.505A= (p.Ser169=) | |
6 | g.31933759A>C | CA3727437 | C2 | c.406A>C (p.Ser136Arg) c.223A>C (p.Ser75Arg) c.592A>C (p.Ser198Arg) c.87A>C (p.Gly29=) c.187A>C (p.Ser63Arg) n.312A>C n.447A>C c.196A>C (p.Ser66Arg) c.186A>C c.443-3560A>C (n.443-3560A>C) c.*305A>C (n.*305A>C) c.169A>C (p.Ser57Arg) c.505A>C (p.Ser169Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933759A>G | CA363496611 | C2 | c.406A>G (p.Ser136Gly) c.223A>G (p.Ser75Gly) c.592A>G (p.Ser198Gly) c.87A>G (p.Gly29=) c.187A>G (p.Ser63Gly) n.312A>G n.447A>G c.196A>G (p.Ser66Gly) c.186A>G c.443-3560A>G (n.443-3560A>G) c.*305A>G (n.*305A>G) c.169A>G (p.Ser57Gly) c.505A>G (p.Ser169Gly) | |
6 | g.31933759A>T | CA363496613 | C2 | c.406A>T (p.Ser136Cys) c.223A>T (p.Ser75Cys) c.592A>T (p.Ser198Cys) c.87A>T (p.Gly29=) c.187A>T (p.Ser63Cys) n.312A>T n.447A>T c.196A>T (p.Ser66Cys) c.186A>T c.443-3560A>T (n.443-3560A>T) c.*305A>T (n.*305A>T) c.169A>T (p.Ser57Cys) c.505A>T (p.Ser169Cys) | |
6 | g.31933760G>A | CA363496619 | C2 | c.407G>A (p.Ser136Asn) c.224G>A (p.Ser75Asn) c.593G>A (p.Ser198Asn) c.88G>A (p.Val30Met) c.188G>A (p.Ser63Asn) n.313G>A n.448G>A c.197G>A (p.Ser66Asn) c.187G>A c.443-3559G>A (n.443-3559G>A) c.*306G>A (n.*306G>A) c.170G>A (p.Ser57Asn) c.506G>A (p.Ser169Asn) | |
6 | g.31933760G>C | CA363496621 | C2 | c.407G>C (p.Ser136Thr) c.224G>C (p.Ser75Thr) c.593G>C (p.Ser198Thr) c.88G>C (p.Val30Leu) c.188G>C (p.Ser63Thr) n.313G>C n.448G>C c.197G>C (p.Ser66Thr) c.187G>C c.443-3559G>C (n.443-3559G>C) c.*306G>C (n.*306G>C) c.170G>C (p.Ser57Thr) c.506G>C (p.Ser169Thr) | |
6 | g.31933760G>T | CA363496625 | C2 | c.407G>T (p.Ser136Ile) c.224G>T (p.Ser75Ile) c.593G>T (p.Ser198Ile) c.88G>T (p.Val30Leu) c.188G>T (p.Ser63Ile) n.313G>T n.448G>T c.197G>T (p.Ser66Ile) c.187G>T c.443-3559G>T (n.443-3559G>T) c.*306G>T (n.*306G>T) c.170G>T (p.Ser57Ile) c.506G>T (p.Ser169Ile) | |
6 | g.31933761T>A | CA363496630 | C2 | c.408T>A (p.Ser136Arg) c.225T>A (p.Ser75Arg) c.594T>A (p.Ser198Arg) c.89T>A (p.Val30Glu) c.189T>A (p.Ser63Arg) n.314T>A n.449T>A c.198T>A (p.Ser66Arg) c.188T>A c.443-3558T>A (n.443-3558T>A) c.*307T>A (n.*307T>A) c.171T>A (p.Ser57Arg) c.507T>A (p.Ser169Arg) | |
6 | g.31933761T>C | CA363496634 | C2 | c.408T>C (p.Ser136=) c.225T>C (p.Ser75=) c.594T>C (p.Ser198=) c.89T>C (p.Val30Ala) c.189T>C (p.Ser63=) n.314T>C n.449T>C c.198T>C (p.Ser66=) c.188T>C c.443-3558T>C (n.443-3558T>C) c.*307T>C (n.*307T>C) c.171T>C (p.Ser57=) c.507T>C (p.Ser169=) | |
6 | g.31933761T>G | CA3727438 | C2 | c.408T>G (p.Ser136Arg) c.225T>G (p.Ser75Arg) c.594T>G (p.Ser198Arg) c.89T>G (p.Val30Gly) c.189T>G (p.Ser63Arg) n.314T>G n.449T>G c.198T>G (p.Ser66Arg) c.188T>G c.443-3558T>G (n.443-3558T>G) c.*307T>G (n.*307T>G) c.171T>G (p.Ser57Arg) c.507T>G (p.Ser169Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933761T= | CA1619369850 | C2 | c.408T= (p.Ser136=) c.225T= (p.Ser75=) c.594T= (p.Ser198=) c.89T= (p.Val30=) c.189T= (p.Ser63=) n.314T= n.449T= c.198T= (p.Ser66=) c.188T= c.443-3558T= (n.443-3558T=) c.*307T= (n.*307T=) c.171T= (p.Ser57=) c.507T= (p.Ser169=) | |
6 | g.31933762G>A | CA363496639 | C2 | c.409G>A (p.Gly137Arg) c.226G>A (p.Gly76Arg) c.595G>A (p.Gly199Arg) c.90G>A (p.Val30=) c.190G>A (p.Gly64Arg) n.315G>A n.450G>A c.199G>A (p.Gly67Arg) c.189G>A c.443-3557G>A (n.443-3557G>A) c.*308G>A (n.*308G>A) c.172G>A (p.Gly58Arg) c.508G>A (p.Gly170Arg) | dbSNP |
6 | g.31933762G>C | CA363496646 | C2 | c.409G>C (p.Gly137Arg) c.226G>C (p.Gly76Arg) c.595G>C (p.Gly199Arg) c.90G>C (p.Val30=) c.190G>C (p.Gly64Arg) n.315G>C n.450G>C c.199G>C (p.Gly67Arg) c.189G>C c.443-3557G>C (n.443-3557G>C) c.*308G>C (n.*308G>C) c.172G>C (p.Gly58Arg) c.508G>C (p.Gly170Arg) | |
6 | g.31933762G>T | CA363496648 | C2 | c.409G>T (p.Gly137Ter) c.226G>T (p.Gly76Ter) c.595G>T (p.Gly199Ter) c.90G>T (p.Val30=) c.190G>T (p.Gly64Ter) n.315G>T n.450G>T c.199G>T (p.Gly67Ter) c.189G>T c.443-3557G>T (n.443-3557G>T) c.*308G>T (n.*308G>T) c.172G>T (p.Gly58Ter) c.508G>T (p.Gly170Ter) | |
6 | g.31933763G>A | CA363496659 | C2 | c.410G>A (p.Gly137Glu) c.227G>A (p.Gly76Glu) c.596G>A (p.Gly199Glu) c.91G>A (p.Glu31Lys) c.191G>A (p.Gly64Glu) n.316G>A n.451G>A c.200G>A (p.Gly67Glu) c.190G>A c.443-3556G>A (n.443-3556G>A) c.*309G>A (n.*309G>A) c.173G>A (p.Gly58Glu) c.509G>A (p.Gly170Glu) | dbSNP |
6 | g.31933763G>C | CA363496653 | C2 | c.410G>C (p.Gly137Ala) c.227G>C (p.Gly76Ala) c.596G>C (p.Gly199Ala) c.91G>C (p.Glu31Gln) c.191G>C (p.Gly64Ala) n.316G>C n.451G>C c.200G>C (p.Gly67Ala) c.190G>C c.443-3556G>C (n.443-3556G>C) c.*309G>C (n.*309G>C) c.173G>C (p.Gly58Ala) c.509G>C (p.Gly170Ala) | |
6 | g.31933763G>T | CA363496655 | C2 | c.410G>T (p.Gly137Val) c.227G>T (p.Gly76Val) c.596G>T (p.Gly199Val) c.91G>T (p.Glu31Ter) c.191G>T (p.Gly64Val) n.316G>T n.451G>T c.200G>T (p.Gly67Val) c.190G>T c.443-3556G>T (n.443-3556G>T) c.*309G>T (n.*309G>T) c.173G>T (p.Gly58Val) c.509G>T (p.Gly170Val) | |
6 | g.31933764A>C | CA363496663 | C2 | c.411A>C (p.Gly137=) c.228A>C (p.Gly76=) c.597A>C (p.Gly199=) c.92A>C (p.Glu31Ala) c.192A>C (p.Gly64=) n.317A>C n.452A>C c.201A>C (p.Gly67=) c.191A>C c.443-3555A>C (n.443-3555A>C) c.*310A>C (n.*310A>C) c.174A>C (p.Gly58=) c.510A>C (p.Gly170=) | |
6 | g.31933764A>G | CA363496672 | C2 | c.411A>G (p.Gly137=) c.228A>G (p.Gly76=) c.597A>G (p.Gly199=) c.92A>G (p.Glu31Gly) c.192A>G (p.Gly64=) n.317A>G n.452A>G c.201A>G (p.Gly67=) c.191A>G c.443-3555A>G (n.443-3555A>G) c.*310A>G (n.*310A>G) c.174A>G (p.Gly58=) c.510A>G (p.Gly170=) | |
6 | g.31933764A>T | CA363496674 | C2 | c.411A>T (p.Gly137=) c.228A>T (p.Gly76=) c.597A>T (p.Gly199=) c.92A>T (p.Glu31Val) c.192A>T (p.Gly64=) n.317A>T n.452A>T c.201A>T (p.Gly67=) c.191A>T c.443-3555A>T (n.443-3555A>T) c.*310A>T (n.*310A>T) c.174A>T (p.Gly58=) c.510A>T (p.Gly170=) | |
6 | g.31933765A>C | CA363496679 | C2 | c.412A>C (p.Thr138Pro) c.229A>C (p.Thr77Pro) c.598A>C (p.Thr200Pro) c.93A>C (p.Glu31Asp) c.193A>C (p.Thr65Pro) n.318A>C n.453A>C c.202A>C (p.Thr68Pro) c.192A>C c.443-3554A>C (n.443-3554A>C) c.*311A>C (n.*311A>C) c.175A>C (p.Thr59Pro) c.511A>C (p.Thr171Pro) | |
6 | g.31933765A>G | CA363496691 | C2 | c.412A>G (p.Thr138Ala) c.229A>G (p.Thr77Ala) c.598A>G (p.Thr200Ala) c.93A>G (p.Glu31=) c.193A>G (p.Thr65Ala) n.318A>G n.453A>G c.202A>G (p.Thr68Ala) c.192A>G c.443-3554A>G (n.443-3554A>G) c.*311A>G (n.*311A>G) c.175A>G (p.Thr59Ala) c.511A>G (p.Thr171Ala) | |
6 | g.31933765A>T | CA363496693 | C2 | c.412A>T (p.Thr138Ser) c.229A>T (p.Thr77Ser) c.598A>T (p.Thr200Ser) c.93A>T (p.Glu31Asp) c.193A>T (p.Thr65Ser) n.318A>T n.453A>T c.202A>T (p.Thr68Ser) c.192A>T c.443-3554A>T (n.443-3554A>T) c.*311A>T (n.*311A>T) c.175A>T (p.Thr59Ser) c.511A>T (p.Thr171Ser) | |
6 | g.31933766C>A | CA363496701 | C2 | c.413C>A (p.Thr138Lys) c.230C>A (p.Thr77Lys) c.599C>A (p.Thr200Lys) c.94C>A (p.Arg32=) c.194C>A (p.Thr65Lys) n.319C>A n.454C>A c.203C>A (p.Thr68Lys) c.193C>A c.443-3553C>A (n.443-3553C>A) c.*312C>A (n.*312C>A) c.176C>A (p.Thr59Lys) c.512C>A (p.Thr171Lys) | |
6 | g.31933766C= | CA1619369851 | C2 | c.413C= (p.Thr138=) c.230C= (p.Thr77=) c.599C= (p.Thr200=) c.94C= (p.Arg32=) c.194C= (p.Thr65=) n.319C= n.454C= c.203C= (p.Thr68=) c.193C= c.443-3553C= (n.443-3553C=) c.*312C= (n.*312C=) c.176C= (p.Thr59=) c.512C= (p.Thr171=) | |
6 | g.31933766C>G | CA363496698 | C2 | c.413C>G (p.Thr138Arg) c.230C>G (p.Thr77Arg) c.599C>G (p.Thr200Arg) c.94C>G (p.Arg32Gly) c.194C>G (p.Thr65Arg) n.319C>G n.454C>G c.203C>G (p.Thr68Arg) c.193C>G c.443-3553C>G (n.443-3553C>G) c.*312C>G (n.*312C>G) c.176C>G (p.Thr59Arg) c.512C>G (p.Thr171Arg) | |
6 | g.31933766C>T | CA3727439 | C2 | c.413C>T (p.Thr138Met) c.230C>T (p.Thr77Met) c.599C>T (p.Thr200Met) c.94C>T (p.Arg32Trp) c.194C>T (p.Thr65Met) n.319C>T n.454C>T c.203C>T (p.Thr68Met) c.193C>T c.443-3553C>T (n.443-3553C>T) c.*312C>T (n.*312C>T) c.176C>T (p.Thr59Met) c.512C>T (p.Thr171Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.31933767G>A | CA363496708 | C2 | c.414G>A (p.Thr138=) c.231G>A (p.Thr77=) c.600G>A (p.Thr200=) c.95G>A (p.Arg32Gln) c.195G>A (p.Thr65=) n.320G>A n.455G>A c.204G>A (p.Thr68=) c.194G>A c.443-3552G>A (n.443-3552G>A) c.*313G>A (n.*313G>A) c.177G>A (p.Thr59=) c.513G>A (p.Thr171=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933767G>C | CA363496710 | C2 | c.414G>C (p.Thr138=) c.231G>C (p.Thr77=) c.600G>C (p.Thr200=) c.95G>C (p.Arg32Pro) c.195G>C (p.Thr65=) n.320G>C n.455G>C c.204G>C (p.Thr68=) c.194G>C c.443-3552G>C (n.443-3552G>C) c.*313G>C (n.*313G>C) c.177G>C (p.Thr59=) c.513G>C (p.Thr171=) | |
6 | g.31933767G= | CA1619369852 | C2 | c.414G= (p.Thr138=) c.231G= (p.Thr77=) c.600G= (p.Thr200=) c.95G= (p.Arg32=) c.195G= (p.Thr65=) n.320G= n.455G= c.204G= (p.Thr68=) c.194G= c.443-3552G= (n.443-3552G=) c.*313G= (n.*313G=) c.177G= (p.Thr59=) c.513G= (p.Thr171=) | |
6 | g.31933767G>T | CA363496714 | C2 | c.414G>T (p.Thr138=) c.231G>T (p.Thr77=) c.600G>T (p.Thr200=) c.95G>T (p.Arg32Leu) c.195G>T (p.Thr65=) n.320G>T n.455G>T c.204G>T (p.Thr68=) c.194G>T c.443-3552G>T (n.443-3552G>T) c.*313G>T (n.*313G>T) c.177G>T (p.Thr59=) c.513G>T (p.Thr171=) | |
6 | g.31933768G>A | CA363496719 | C2 | c.415G>A (p.Glu139Lys) c.232G>A (p.Glu78Lys) c.601G>A (p.Glu201Lys) c.96G>A (p.Arg32=) c.196G>A (p.Glu66Lys) n.321G>A n.456G>A c.205G>A (p.Glu69Lys) c.195G>A c.443-3551G>A (n.443-3551G>A) c.*314G>A (n.*314G>A) c.178G>A (p.Glu60Lys) c.514G>A (p.Glu172Lys) | COSMIC |
6 | g.31933768G>C | CA363496727 | C2 | c.415G>C (p.Glu139Gln) c.232G>C (p.Glu78Gln) c.601G>C (p.Glu201Gln) c.96G>C (p.Arg32=) c.196G>C (p.Glu66Gln) n.321G>C n.456G>C c.205G>C (p.Glu69Gln) c.195G>C c.443-3551G>C (n.443-3551G>C) c.*314G>C (n.*314G>C) c.178G>C (p.Glu60Gln) c.514G>C (p.Glu172Gln) | |
6 | g.31933768G>T | CA363496729 | C2 | c.415G>T (p.Glu139Ter) c.232G>T (p.Glu78Ter) c.601G>T (p.Glu201Ter) c.96G>T (p.Arg32=) c.196G>T (p.Glu66Ter) n.321G>T n.456G>T c.205G>T (p.Glu69Ter) c.195G>T c.443-3551G>T (n.443-3551G>T) c.*314G>T (n.*314G>T) c.178G>T (p.Glu60Ter) c.514G>T (p.Glu172Ter) | |
6 | g.31933769A>C | CA363496733 | C2 | c.416A>C (p.Glu139Ala) c.233A>C (p.Glu78Ala) c.602A>C (p.Glu201Ala) c.97A>C (p.Ser33Arg) c.197A>C (p.Glu66Ala) n.322A>C n.457A>C c.206A>C (p.Glu69Ala) c.196A>C c.443-3550A>C (n.443-3550A>C) c.*315A>C (n.*315A>C) c.179A>C (p.Glu60Ala) c.515A>C (p.Glu172Ala) | gnomAD v4 |
6 | g.31933769A>G | CA363496739 | C2 | c.416A>G (p.Glu139Gly) c.233A>G (p.Glu78Gly) c.602A>G (p.Glu201Gly) c.97A>G (p.Ser33Gly) c.197A>G (p.Glu66Gly) n.322A>G n.457A>G c.206A>G (p.Glu69Gly) c.196A>G c.443-3550A>G (n.443-3550A>G) c.*315A>G (n.*315A>G) c.179A>G (p.Glu60Gly) c.515A>G (p.Glu172Gly) | |
6 | g.31933769A>T | CA363496737 | C2 | c.416A>T (p.Glu139Val) c.233A>T (p.Glu78Val) c.602A>T (p.Glu201Val) c.97A>T (p.Ser33Cys) c.197A>T (p.Glu66Val) n.322A>T n.457A>T c.206A>T (p.Glu69Val) c.196A>T c.443-3550A>T (n.443-3550A>T) c.*315A>T (n.*315A>T) c.179A>T (p.Glu60Val) c.515A>T (p.Glu172Val) | |
6 | g.31933770G>A | CA363496742 | C2 | c.417G>A (p.Glu139=) c.234G>A (p.Glu78=) c.603G>A (p.Glu201=) c.98G>A (p.Ser33Asn) c.198G>A (p.Glu66=) n.323G>A n.458G>A c.207G>A (p.Glu69=) c.197G>A c.443-3549G>A (n.443-3549G>A) c.*316G>A (n.*316G>A) c.180G>A (p.Glu60=) c.516G>A (p.Glu172=) | |
6 | g.31933770G>C | CA363496744 | C2 | c.417G>C (p.Glu139Asp) c.234G>C (p.Glu78Asp) c.603G>C (p.Glu201Asp) c.98G>C (p.Ser33Thr) c.198G>C (p.Glu66Asp) n.323G>C n.458G>C c.207G>C (p.Glu69Asp) c.197G>C c.443-3549G>C (n.443-3549G>C) c.*316G>C (n.*316G>C) c.180G>C (p.Glu60Asp) c.516G>C (p.Glu172Asp) | |
6 | g.31933770G= | CA1619369853 | C2 | c.417G= (p.Glu139=) c.234G= (p.Glu78=) c.603G= (p.Glu201=) c.98G= (p.Ser33=) c.198G= (p.Glu66=) n.323G= n.458G= c.207G= (p.Glu69=) c.197G= c.443-3549G= (n.443-3549G=) c.*316G= (n.*316G=) c.180G= (p.Glu60=) c.516G= (p.Glu172=) | |
6 | g.31933770G>T | CA136929085 | C2 | c.417G>T (p.Glu139Asp) c.234G>T (p.Glu78Asp) c.603G>T (p.Glu201Asp) c.98G>T (p.Ser33Ile) c.198G>T (p.Glu66Asp) n.323G>T n.458G>T c.207G>T (p.Glu69Asp) c.197G>T c.443-3549G>T (n.443-3549G>T) c.*316G>T (n.*316G>T) c.180G>T (p.Glu60Asp) c.516G>T (p.Glu172Asp) | dbSNP gnomAD v2 |
6 | g.31933773_31933783del | CA2678069537 | C2 | c.420_430del (p.Ile141ThrfsTer5) c.237_247del (p.Ile80ThrfsTer5) c.606_616del (p.Ile203ThrfsTer5) c.101_111del (p.Pro34GlnfsTer?) c.201_211del (p.Ile68ThrfsTer5) n.326_336del n.461_471del c.210_220del (p.Ile71ThrfsTer5) c.200_210del c.101_111del (p.Pro34HisfsTer5) c.443-3546_443-3536del (n.443-3546_443-3536del) c.*319_*329del (n.*319_*329del) c.183_193del (p.Ile62ThrfsTer5) c.519_529del (p.Ile174ThrfsTer5) | gnomAD v4 |
6 | g.31933771C>A | CA363496747 | C2 | c.418C>A (p.Pro140Thr) c.235C>A (p.Pro79Thr) c.604C>A (p.Pro202Thr) c.99C>A (p.Ser33Arg) c.199C>A (p.Pro67Thr) n.324C>A n.459C>A c.208C>A (p.Pro70Thr) c.198C>A c.443-3548C>A (n.443-3548C>A) c.*317C>A (n.*317C>A) c.181C>A (p.Pro61Thr) c.517C>A (p.Pro173Thr) | |
6 | g.31933771C>G | CA363496748 | C2 | c.418C>G (p.Pro140Ala) c.235C>G (p.Pro79Ala) c.604C>G (p.Pro202Ala) c.99C>G (p.Ser33Arg) c.199C>G (p.Pro67Ala) n.324C>G n.459C>G c.208C>G (p.Pro70Ala) c.198C>G c.443-3548C>G (n.443-3548C>G) c.*317C>G (n.*317C>G) c.181C>G (p.Pro61Ala) c.517C>G (p.Pro173Ala) | |
6 | g.31933771C>T | CA363496750 | C2 | c.418C>T (p.Pro140Ser) c.235C>T (p.Pro79Ser) c.604C>T (p.Pro202Ser) c.99C>T (p.Ser33=) c.199C>T (p.Pro67Ser) n.324C>T n.459C>T c.208C>T (p.Pro70Ser) c.198C>T c.443-3548C>T (n.443-3548C>T) c.*317C>T (n.*317C>T) c.181C>T (p.Pro61Ser) c.517C>T (p.Pro173Ser) | |
6 | g.31933772C>A | CA363496752 | C2 | c.419C>A (p.Pro140His) c.236C>A (p.Pro79His) c.605C>A (p.Pro202His) c.100C>A (p.Pro34Thr) c.200C>A (p.Pro67His) n.325C>A n.460C>A c.209C>A (p.Pro70His) c.199C>A c.443-3547C>A (n.443-3547C>A) c.*318C>A (n.*318C>A) c.182C>A (p.Pro61His) c.518C>A (p.Pro173His) | |
6 | g.31933772C>G | CA363496755 | C2 | c.419C>G (p.Pro140Arg) c.236C>G (p.Pro79Arg) c.605C>G (p.Pro202Arg) c.100C>G (p.Pro34Ala) c.200C>G (p.Pro67Arg) n.325C>G n.460C>G c.209C>G (p.Pro70Arg) c.199C>G c.443-3547C>G (n.443-3547C>G) c.*318C>G (n.*318C>G) c.182C>G (p.Pro61Arg) c.518C>G (p.Pro173Arg) | |
6 | g.31933772C>T | CA363496759 | C2 | c.419C>T (p.Pro140Leu) c.236C>T (p.Pro79Leu) c.605C>T (p.Pro202Leu) c.100C>T (p.Pro34Ser) c.200C>T (p.Pro67Leu) n.325C>T n.460C>T c.209C>T (p.Pro70Leu) c.199C>T c.443-3547C>T (n.443-3547C>T) c.*318C>T (n.*318C>T) c.182C>T (p.Pro61Leu) c.518C>T (p.Pro173Leu) | |
6 | g.31933773C>A | CA363496762 | C2 | c.420C>A (p.Pro140=) c.237C>A (p.Pro79=) c.606C>A (p.Pro202=) c.101C>A (p.Pro34Gln) c.201C>A (p.Pro67=) n.326C>A n.461C>A c.210C>A (p.Pro70=) c.200C>A c.443-3546C>A (n.443-3546C>A) c.*319C>A (n.*319C>A) c.183C>A (p.Pro61=) c.519C>A (p.Pro173=) | |
6 | g.31933773C>G | CA363496765 | C2 | c.420C>G (p.Pro140=) c.237C>G (p.Pro79=) c.606C>G (p.Pro202=) c.101C>G (p.Pro34Arg) c.201C>G (p.Pro67=) n.326C>G n.461C>G c.210C>G (p.Pro70=) c.200C>G c.443-3546C>G (n.443-3546C>G) c.*319C>G (n.*319C>G) c.183C>G (p.Pro61=) c.519C>G (p.Pro173=) | |
6 | g.31933773C>T | CA363496769 | C2 | c.420C>T (p.Pro140=) c.237C>T (p.Pro79=) c.606C>T (p.Pro202=) c.101C>T (p.Pro34Leu) c.201C>T (p.Pro67=) n.326C>T n.461C>T c.210C>T (p.Pro70=) c.200C>T c.443-3546C>T (n.443-3546C>T) c.*319C>T (n.*319C>T) c.183C>T (p.Pro61=) c.519C>T (p.Pro173=) | |
6 | g.31933774A>C | CA363496773 | C2 | c.421A>C (p.Ile141Leu) c.238A>C (p.Ile80Leu) c.607A>C (p.Ile203Leu) c.102A>C (p.Pro34=) c.202A>C (p.Ile68Leu) n.327A>C n.462A>C c.211A>C (p.Ile71Leu) c.201A>C c.443-3545A>C (n.443-3545A>C) c.*320A>C (n.*320A>C) c.184A>C (p.Ile62Leu) c.520A>C (p.Ile174Leu) | |
6 | g.31933774A>G | CA363496780 | C2 | c.421A>G (p.Ile141Val) c.238A>G (p.Ile80Val) c.607A>G (p.Ile203Val) c.102A>G (p.Pro34=) c.202A>G (p.Ile68Val) n.327A>G n.462A>G c.211A>G (p.Ile71Val) c.201A>G c.443-3545A>G (n.443-3545A>G) c.*320A>G (n.*320A>G) c.184A>G (p.Ile62Val) c.520A>G (p.Ile174Val) | |
6 | g.31933774A>T | CA363496777 | C2 | c.421A>T (p.Ile141Phe) c.238A>T (p.Ile80Phe) c.607A>T (p.Ile203Phe) c.102A>T (p.Pro34=) c.202A>T (p.Ile68Phe) n.327A>T n.462A>T c.211A>T (p.Ile71Phe) c.201A>T c.443-3545A>T (n.443-3545A>T) c.*320A>T (n.*320A>T) c.184A>T (p.Ile62Phe) c.520A>T (p.Ile174Phe) | |
6 | g.31933775T>A | CA363496784 | C2 | c.422T>A (p.Ile141Asn) c.239T>A (p.Ile80Asn) c.608T>A (p.Ile203Asn) c.103T>A (p.Ser35Thr) c.203T>A (p.Ile68Asn) n.328T>A n.463T>A c.212T>A (p.Ile71Asn) c.202T>A c.443-3544T>A (n.443-3544T>A) c.*321T>A (n.*321T>A) c.185T>A (p.Ile62Asn) c.521T>A (p.Ile174Asn) | |
6 | g.31933775T>C | CA363496787 | C2 | c.422T>C (p.Ile141Thr) c.239T>C (p.Ile80Thr) c.608T>C (p.Ile203Thr) c.103T>C (p.Ser35Pro) c.203T>C (p.Ile68Thr) n.328T>C n.463T>C c.212T>C (p.Ile71Thr) c.202T>C c.443-3544T>C (n.443-3544T>C) c.*321T>C (n.*321T>C) c.185T>C (p.Ile62Thr) c.521T>C (p.Ile174Thr) | |
6 | g.31933775T>G | CA363496790 | C2 | c.422T>G (p.Ile141Ser) c.239T>G (p.Ile80Ser) c.608T>G (p.Ile203Ser) c.103T>G (p.Ser35Ala) c.203T>G (p.Ile68Ser) n.328T>G n.463T>G c.212T>G (p.Ile71Ser) c.202T>G c.443-3544T>G (n.443-3544T>G) c.*321T>G (n.*321T>G) c.185T>G (p.Ile62Ser) c.521T>G (p.Ile174Ser) | |
6 | g.31933776C>A | CA363496793 | C2 | c.423C>A (p.Ile141=) c.240C>A (p.Ile80=) c.609C>A (p.Ile203=) c.104C>A (p.Ser35Tyr) c.204C>A (p.Ile68=) n.329C>A n.464C>A c.213C>A (p.Ile71=) c.203C>A c.443-3543C>A (n.443-3543C>A) c.*322C>A (n.*322C>A) c.186C>A (p.Ile62=) c.522C>A (p.Ile174=) | gnomAD v4 |
6 | g.31933776C= | CA1619369854 | C2 | c.423C= (p.Ile141=) c.240C= (p.Ile80=) c.609C= (p.Ile203=) c.104C= (p.Ser35=) c.204C= (p.Ile68=) n.329C= n.464C= c.213C= (p.Ile71=) c.203C= c.443-3543C= (n.443-3543C=) c.*322C= (n.*322C=) c.186C= (p.Ile62=) c.522C= (p.Ile174=) | |
6 | g.31933776C>G | CA363496795 | C2 | c.423C>G (p.Ile141Met) c.240C>G (p.Ile80Met) c.609C>G (p.Ile203Met) c.104C>G (p.Ser35Cys) c.204C>G (p.Ile68Met) n.329C>G n.464C>G c.213C>G (p.Ile71Met) c.203C>G c.443-3543C>G (n.443-3543C>G) c.*322C>G (n.*322C>G) c.186C>G (p.Ile62Met) c.522C>G (p.Ile174Met) | |
6 | g.31933776C>T | CA3727440 | C2 | c.423C>T (p.Ile141=) c.240C>T (p.Ile80=) c.609C>T (p.Ile203=) c.104C>T (p.Ser35Phe) c.204C>T (p.Ile68=) n.329C>T n.464C>T c.213C>T (p.Ile71=) c.203C>T c.443-3543C>T (n.443-3543C>T) c.*322C>T (n.*322C>T) c.186C>T (p.Ile62=) c.522C>T (p.Ile174=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933777T>A | CA363496809 | C2 | c.424T>A (p.Cys142Ser) c.241T>A (p.Cys81Ser) c.610T>A (p.Cys204Ser) c.105T>A (p.Ser35=) c.205T>A (p.Cys69Ser) n.330T>A n.465T>A c.214T>A (p.Cys72Ser) c.204T>A c.443-3542T>A (n.443-3542T>A) c.*323T>A (n.*323T>A) c.187T>A (p.Cys63Ser) c.523T>A (p.Cys175Ser) | |
6 | g.31933777T>C | CA363496806 | C2 | c.424T>C (p.Cys142Arg) c.241T>C (p.Cys81Arg) c.610T>C (p.Cys204Arg) c.105T>C (p.Ser35=) c.205T>C (p.Cys69Arg) n.330T>C n.465T>C c.214T>C (p.Cys72Arg) c.204T>C c.443-3542T>C (n.443-3542T>C) c.*323T>C (n.*323T>C) c.187T>C (p.Cys63Arg) c.523T>C (p.Cys175Arg) | |
6 | g.31933777T>G | CA363496802 | C2 | c.424T>G (p.Cys142Gly) c.241T>G (p.Cys81Gly) c.610T>G (p.Cys204Gly) c.105T>G (p.Ser35=) c.205T>G (p.Cys69Gly) n.330T>G n.465T>G c.214T>G (p.Cys72Gly) c.204T>G c.443-3542T>G (n.443-3542T>G) c.*323T>G (n.*323T>G) c.187T>G (p.Cys63Gly) c.523T>G (p.Cys175Gly) | |
6 | g.31933778G>A | CA363496813 | C2 | c.425G>A (p.Cys142Tyr) c.242G>A (p.Cys81Tyr) c.611G>A (p.Cys204Tyr) c.106G>A (p.Ala36Thr) c.206G>A (p.Cys69Tyr) n.331G>A n.466G>A c.215G>A (p.Cys72Tyr) c.205G>A c.443-3541G>A (n.443-3541G>A) c.*324G>A (n.*324G>A) c.188G>A (p.Cys63Tyr) c.524G>A (p.Cys175Tyr) | |
6 | g.31933778G>C | CA363496819 | C2 | c.425G>C (p.Cys142Ser) c.242G>C (p.Cys81Ser) c.611G>C (p.Cys204Ser) c.106G>C (p.Ala36Pro) c.206G>C (p.Cys69Ser) n.331G>C n.466G>C c.215G>C (p.Cys72Ser) c.205G>C c.443-3541G>C (n.443-3541G>C) c.*324G>C (n.*324G>C) c.188G>C (p.Cys63Ser) c.524G>C (p.Cys175Ser) | |
6 | g.31933778G>T | CA363496820 | C2 | c.425G>T (p.Cys142Phe) c.242G>T (p.Cys81Phe) c.611G>T (p.Cys204Phe) c.106G>T (p.Ala36Ser) c.206G>T (p.Cys69Phe) n.331G>T n.466G>T c.215G>T (p.Cys72Phe) c.205G>T c.443-3541G>T (n.443-3541G>T) c.*324G>T (n.*324G>T) c.188G>T (p.Cys63Phe) c.524G>T (p.Cys175Phe) | |
6 | g.31933779C>A | CA363496825 | C2 | c.426C>A (p.Cys142Ter) c.243C>A (p.Cys81Ter) c.612C>A (p.Cys204Ter) c.107C>A (p.Ala36Asp) c.207C>A (p.Cys69Ter) n.332C>A n.467C>A c.216C>A (p.Cys72Ter) c.206C>A c.443-3540C>A (n.443-3540C>A) c.*325C>A (n.*325C>A) c.189C>A (p.Cys63Ter) c.525C>A (p.Cys175Ter) | |
6 | g.31933779C>G | CA363496828 | C2 | c.426C>G (p.Cys142Trp) c.243C>G (p.Cys81Trp) c.612C>G (p.Cys204Trp) c.107C>G (p.Ala36Gly) c.207C>G (p.Cys69Trp) n.332C>G n.467C>G c.216C>G (p.Cys72Trp) c.206C>G c.443-3540C>G (n.443-3540C>G) c.*325C>G (n.*325C>G) c.189C>G (p.Cys63Trp) c.525C>G (p.Cys175Trp) | |
6 | g.31933779C>T | CA363496830 | C2 | c.426C>T (p.Cys142=) c.243C>T (p.Cys81=) c.612C>T (p.Cys204=) c.107C>T (p.Ala36Val) c.207C>T (p.Cys69=) n.332C>T n.467C>T c.216C>T (p.Cys72=) c.206C>T c.443-3540C>T (n.443-3540C>T) c.*325C>T (n.*325C>T) c.189C>T (p.Cys63=) c.525C>T (p.Cys175=) | |
6 | g.31933780C>A | CA363496837 | C2 | c.427C>A (p.Arg143Ser) c.244C>A (p.Arg82Ser) c.613C>A (p.Arg205Ser) c.108C>A (p.Ala36=) c.208C>A (p.Arg70Ser) n.333C>A n.468C>A c.217C>A (p.Arg73Ser) c.207C>A c.443-3539C>A (n.443-3539C>A) c.*326C>A (n.*326C>A) c.190C>A (p.Arg64Ser) c.526C>A (p.Arg176Ser) | |
6 | g.31933780C= | CA1619369855 | C2 | c.427C= (p.Arg143=) c.244C= (p.Arg82=) c.613C= (p.Arg205=) c.108C= (p.Ala36=) c.208C= (p.Arg70=) n.333C= n.468C= c.217C= (p.Arg73=) c.207C= c.443-3539C= (n.443-3539C=) c.*326C= (n.*326C=) c.190C= (p.Arg64=) c.526C= (p.Arg176=) | |
6 | g.31933780C>G | CA363496842 | C2 | c.427C>G (p.Arg143Gly) c.244C>G (p.Arg82Gly) c.613C>G (p.Arg205Gly) c.108C>G (p.Ala36=) c.208C>G (p.Arg70Gly) n.333C>G n.468C>G c.217C>G (p.Arg73Gly) c.207C>G c.443-3539C>G (n.443-3539C>G) c.*326C>G (n.*326C>G) c.190C>G (p.Arg64Gly) c.526C>G (p.Arg176Gly) | |
6 | g.31933780C>T | CA3727441 | C2 | c.427C>T (p.Arg143Cys) c.244C>T (p.Arg82Cys) c.613C>T (p.Arg205Cys) c.108C>T (p.Ala36=) c.208C>T (p.Arg70Cys) n.333C>T n.468C>T c.217C>T (p.Arg73Cys) c.207C>T c.443-3539C>T (n.443-3539C>T) c.*326C>T (n.*326C>T) c.190C>T (p.Arg64Cys) c.526C>T (p.Arg176Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.31933781G>A | CA3727442 | C2 | c.428G>A (p.Arg143His) c.245G>A (p.Arg82His) c.614G>A (p.Arg205His) c.109G>A (p.Ala37Thr) c.209G>A (p.Arg70His) n.334G>A n.469G>A c.218G>A (p.Arg73His) c.208G>A c.443-3538G>A (n.443-3538G>A) c.*327G>A (n.*327G>A) c.191G>A (p.Arg64His) c.527G>A (p.Arg176His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933781G>C | CA363496855 | C2 | c.428G>C (p.Arg143Pro) c.245G>C (p.Arg82Pro) c.614G>C (p.Arg205Pro) c.109G>C (p.Ala37Pro) c.209G>C (p.Arg70Pro) n.334G>C n.469G>C c.218G>C (p.Arg73Pro) c.208G>C c.443-3538G>C (n.443-3538G>C) c.*327G>C (n.*327G>C) c.191G>C (p.Arg64Pro) c.527G>C (p.Arg176Pro) | gnomAD v4 |
6 | g.31933781G= | CA1619369856 | C2 | c.428G= (p.Arg143=) c.245G= (p.Arg82=) c.614G= (p.Arg205=) c.109G= (p.Ala37=) c.209G= (p.Arg70=) n.334G= n.469G= c.218G= (p.Arg73=) c.208G= c.443-3538G= (n.443-3538G=) c.*327G= (n.*327G=) c.191G= (p.Arg64=) c.527G= (p.Arg176=) | |
6 | g.31933781G>T | CA363496857 | C2 | c.428G>T (p.Arg143Leu) c.245G>T (p.Arg82Leu) c.614G>T (p.Arg205Leu) c.109G>T (p.Ala37Ser) c.209G>T (p.Arg70Leu) n.334G>T n.469G>T c.218G>T (p.Arg73Leu) c.208G>T c.443-3538G>T (n.443-3538G>T) c.*327G>T (n.*327G>T) c.191G>T (p.Arg64Leu) c.527G>T (p.Arg176Leu) | |
6 | g.31933782C>A | CA363496860 | C2 | c.429C>A (p.Arg143=) c.246C>A (p.Arg82=) c.615C>A (p.Arg205=) c.110C>A (p.Ala37Asp) c.210C>A (p.Arg70=) n.335C>A n.470C>A c.219C>A (p.Arg73=) c.209C>A c.443-3537C>A (n.443-3537C>A) c.*328C>A (n.*328C>A) c.192C>A (p.Arg64=) c.528C>A (p.Arg176=) | |
6 | g.31933782C>G | CA363496863 | C2 | c.429C>G (p.Arg143=) c.246C>G (p.Arg82=) c.615C>G (p.Arg205=) c.110C>G (p.Ala37Gly) c.210C>G (p.Arg70=) n.335C>G n.470C>G c.219C>G (p.Arg73=) c.209C>G c.443-3537C>G (n.443-3537C>G) c.*328C>G (n.*328C>G) c.192C>G (p.Arg64=) c.528C>G (p.Arg176=) | |
6 | g.31933782C>T | CA363496864 | C2 | c.429C>T (p.Arg143=) c.246C>T (p.Arg82=) c.615C>T (p.Arg205=) c.110C>T (p.Ala37Val) c.210C>T (p.Arg70=) n.335C>T n.470C>T c.219C>T (p.Arg73=) c.209C>T c.443-3537C>T (n.443-3537C>T) c.*328C>T (n.*328C>T) c.192C>T (p.Arg64=) c.528C>T (p.Arg176=) | gnomAD v4 |