UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.129839207C>A | CA369448998 | UBE2H | c.427G>T (p.Glu143Ter) c.217G>T (p.Glu73Ter) c.367G>T (p.Gly123Cys) c.334G>T (p.Glu112Ter) n.535G>T c.328G>T (p.Glu110Ter) c.616G>T (p.Glu206Ter) | |
| 7 | g.129839207C>G | CA369449001 | UBE2H | c.427G>C (p.Glu143Gln) c.217G>C (p.Glu73Gln) c.367G>C (p.Gly123Arg) c.334G>C (p.Glu112Gln) n.535G>C c.328G>C (p.Glu110Gln) c.616G>C (p.Glu206Gln) | gnomAD v4 |
| 7 | g.129839207C>T | CA369449003 | UBE2H | c.427G>A (p.Glu143Lys) c.217G>A (p.Glu73Lys) c.367G>A (p.Gly123Ser) c.334G>A (p.Glu112Lys) n.535G>A c.328G>A (p.Glu110Lys) c.616G>A (p.Glu206Lys) | |
| 7 | g.129839208T>A | CA369449005 | UBE2H | c.426A>T (p.Lys142Asn) c.216A>T (p.Lys72Asn) c.366A>T (p.Lys122Asn) c.333A>T (p.Lys111Asn) n.534A>T c.327A>T (p.Lys109Asn) c.615A>T (p.Lys205Asn) | |
| 7 | g.129839208T>C | CA457730330 | UBE2H | c.426A>G (p.Lys142=) c.216A>G (p.Lys72=) c.366A>G (p.Lys122=) c.333A>G (p.Lys111=) n.534A>G c.327A>G (p.Lys109=) c.615A>G (p.Lys205=) | |
| 7 | g.129839208T>G | CA369449007 | UBE2H | c.426A>C (p.Lys142Asn) c.216A>C (p.Lys72Asn) c.366A>C (p.Lys122Asn) c.333A>C (p.Lys111Asn) n.534A>C c.327A>C (p.Lys109Asn) c.615A>C (p.Lys205Asn) | |
| 7 | g.129839209T>A | CA369449012 | UBE2H | c.425A>T (p.Lys142Ile) c.215A>T (p.Lys72Ile) c.365A>T (p.Lys122Ile) c.332A>T (p.Lys111Ile) n.533A>T c.326A>T (p.Lys109Ile) c.614A>T (p.Lys205Ile) | |
| 7 | g.129839209T>C | CA369449014 | UBE2H | c.425A>G (p.Lys142Arg) c.215A>G (p.Lys72Arg) c.365A>G (p.Lys122Arg) c.332A>G (p.Lys111Arg) n.533A>G c.326A>G (p.Lys109Arg) c.614A>G (p.Lys205Arg) | |
| 7 | g.129839209T>G | CA369449016 | UBE2H | c.425A>C (p.Lys142Thr) c.215A>C (p.Lys72Thr) c.365A>C (p.Lys122Thr) c.332A>C (p.Lys111Thr) n.533A>C c.326A>C (p.Lys109Thr) c.614A>C (p.Lys205Thr) | |
| 7 | g.129839210T>A | CA369449018 | UBE2H | c.424A>T (p.Lys142Ter) c.214A>T (p.Lys72Ter) c.364A>T (p.Lys122Ter) c.331A>T (p.Lys111Ter) n.532A>T c.325A>T (p.Lys109Ter) c.613A>T (p.Lys205Ter) | |
| 7 | g.129839210T>C | CA369449019 | UBE2H | c.424A>G (p.Lys142Glu) c.214A>G (p.Lys72Glu) c.364A>G (p.Lys122Glu) c.331A>G (p.Lys111Glu) n.532A>G c.325A>G (p.Lys109Glu) c.613A>G (p.Lys205Glu) | |
| 7 | g.129839210T>G | CA369449021 | UBE2H | c.424A>C (p.Lys142Gln) c.214A>C (p.Lys72Gln) c.364A>C (p.Lys122Gln) c.331A>C (p.Lys111Gln) n.532A>C c.325A>C (p.Lys109Gln) c.613A>C (p.Lys205Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.129839210T= | CA1743017335 | UBE2H | c.424A= (p.Lys142=) c.214A= (p.Lys72=) c.364A= (p.Lys122=) c.331A= (p.Lys111=) n.532A= c.325A= (p.Lys109=) c.613A= (p.Lys205=) | |
| 7 | g.129839211A>C | CA369449024 | UBE2H | c.423T>G (p.Ile141Met) c.213T>G (p.Ile71Met) c.363T>G (p.Ile121Met) c.330T>G (p.Ile110Met) n.531T>G c.324T>G (p.Ile108Met) c.612T>G (p.Ile204Met) | |
| 7 | g.129839211A>G | CA457730331 | UBE2H | c.423T>C (p.Ile141=) c.213T>C (p.Ile71=) c.363T>C (p.Ile121=) c.330T>C (p.Ile110=) n.531T>C c.324T>C (p.Ile108=) c.612T>C (p.Ile204=) | |
| 7 | g.129839211A>T | CA457730332 | UBE2H | c.423T>A (p.Ile141=) c.213T>A (p.Ile71=) c.363T>A (p.Ile121=) c.330T>A (p.Ile110=) n.531T>A c.324T>A (p.Ile108=) c.612T>A (p.Ile204=) | |
| 7 | g.129839212A>C | CA369449029 | UBE2H | c.422T>G (p.Ile141Ser) c.212T>G (p.Ile71Ser) c.362T>G (p.Ile121Ser) c.329T>G (p.Ile110Ser) n.530T>G c.323T>G (p.Ile108Ser) c.611T>G (p.Ile204Ser) | |
| 7 | g.129839212A>G | CA369449025 | UBE2H | c.422T>C (p.Ile141Thr) c.212T>C (p.Ile71Thr) c.362T>C (p.Ile121Thr) c.329T>C (p.Ile110Thr) n.530T>C c.323T>C (p.Ile108Thr) c.611T>C (p.Ile204Thr) | |
| 7 | g.129839212A>T | CA369449027 | UBE2H | c.422T>A (p.Ile141Asn) c.212T>A (p.Ile71Asn) c.362T>A (p.Ile121Asn) c.329T>A (p.Ile110Asn) n.530T>A c.323T>A (p.Ile108Asn) c.611T>A (p.Ile204Asn) | |
| 7 | g.129839213T>A | CA369449031 | UBE2H | c.421A>T (p.Ile141Phe) c.211A>T (p.Ile71Phe) c.361A>T (p.Ile121Phe) c.328A>T (p.Ile110Phe) n.529A>T c.322A>T (p.Ile108Phe) c.610A>T (p.Ile204Phe) | |
| 7 | g.129839213T>C | CA369449033 | UBE2H | c.421A>G (p.Ile141Val) c.211A>G (p.Ile71Val) c.361A>G (p.Ile121Val) c.328A>G (p.Ile110Val) n.529A>G c.322A>G (p.Ile108Val) c.610A>G (p.Ile204Val) | |
| 7 | g.129839213T>G | CA369449034 | UBE2H | c.421A>C (p.Ile141Leu) c.211A>C (p.Ile71Leu) c.361A>C (p.Ile121Leu) c.328A>C (p.Ile110Leu) n.529A>C c.322A>C (p.Ile108Leu) c.610A>C (p.Ile204Leu) | |
| 7 | g.129839214T>A | CA369449036 | UBE2H | c.420A>T (p.Lys140Asn) c.210A>T (p.Lys70Asn) c.360A>T (p.Lys120Asn) c.327A>T (p.Lys109Asn) n.528A>T c.321A>T (p.Lys107Asn) c.609A>T (p.Lys203Asn) | |
| 7 | g.129839214T>C | CA457730333 | UBE2H | c.420A>G (p.Lys140=) c.210A>G (p.Lys70=) c.360A>G (p.Lys120=) c.327A>G (p.Lys109=) n.528A>G c.321A>G (p.Lys107=) c.609A>G (p.Lys203=) | |
| 7 | g.129839214T>G | CA369449038 | UBE2H | c.420A>C (p.Lys140Asn) c.210A>C (p.Lys70Asn) c.360A>C (p.Lys120Asn) c.327A>C (p.Lys109Asn) n.528A>C c.321A>C (p.Lys107Asn) c.609A>C (p.Lys203Asn) | |
| 7 | g.129839215T>A | CA369449040 | UBE2H | c.419A>T (p.Lys140Ile) c.209A>T (p.Lys70Ile) c.359A>T (p.Lys120Ile) c.326A>T (p.Lys109Ile) n.527A>T c.320A>T (p.Lys107Ile) c.608A>T (p.Lys203Ile) | |
| 7 | g.129839215T>C | CA369449042 | UBE2H | c.419A>G (p.Lys140Arg) c.209A>G (p.Lys70Arg) c.359A>G (p.Lys120Arg) c.326A>G (p.Lys109Arg) n.527A>G c.320A>G (p.Lys107Arg) c.608A>G (p.Lys203Arg) | |
| 7 | g.129839215T>G | CA369449044 | UBE2H | c.419A>C (p.Lys140Thr) c.209A>C (p.Lys70Thr) c.359A>C (p.Lys120Thr) c.326A>C (p.Lys109Thr) n.527A>C c.320A>C (p.Lys107Thr) c.608A>C (p.Lys203Thr) | |
| 7 | g.129839216T>A | CA369449046 | UBE2H | c.418A>T (p.Lys140Ter) c.208A>T (p.Lys70Ter) c.358A>T (p.Lys120Ter) c.325A>T (p.Lys109Ter) n.526A>T c.319A>T (p.Lys107Ter) c.607A>T (p.Lys203Ter) | |
| 7 | g.129839216T>C | CA369449048 | UBE2H | c.418A>G (p.Lys140Glu) c.208A>G (p.Lys70Glu) c.358A>G (p.Lys120Glu) c.325A>G (p.Lys109Glu) n.526A>G c.319A>G (p.Lys107Glu) c.607A>G (p.Lys203Glu) | |
| 7 | g.129839216T>G | CA369449050 | UBE2H | c.418A>C (p.Lys140Gln) c.208A>C (p.Lys70Gln) c.358A>C (p.Lys120Gln) c.325A>C (p.Lys109Gln) n.526A>C c.319A>C (p.Lys107Gln) c.607A>C (p.Lys203Gln) | |
| 7 | g.129839217C>A | CA369449052 | UBE2H | c.417G>T (p.Gln139His) c.207G>T (p.Gln69His) c.357G>T (p.Gln119His) c.324G>T (p.Gln108His) n.525G>T c.318G>T (p.Gln106His) c.606G>T (p.Gln202His) | |
| 7 | g.129839217C>G | CA369449054 | UBE2H | c.417G>C (p.Gln139His) c.207G>C (p.Gln69His) c.357G>C (p.Gln119His) c.324G>C (p.Gln108His) n.525G>C c.318G>C (p.Gln106His) c.606G>C (p.Gln202His) | |
| 7 | g.129839217C>T | CA457730334 | UBE2H | c.417G>A (p.Gln139=) c.207G>A (p.Gln69=) c.357G>A (p.Gln119=) c.324G>A (p.Gln108=) n.525G>A c.318G>A (p.Gln106=) c.606G>A (p.Gln202=) | |
| 7 | g.129839218T>A | CA369449058 | UBE2H | c.416A>T (p.Gln139Leu) c.206A>T (p.Gln69Leu) c.356A>T (p.Gln119Leu) c.323A>T (p.Gln108Leu) n.524A>T c.317A>T (p.Gln106Leu) c.605A>T (p.Gln202Leu) | |
| 7 | g.129839218T>C | CA369449060 | UBE2H | c.416A>G (p.Gln139Arg) c.206A>G (p.Gln69Arg) c.356A>G (p.Gln119Arg) c.323A>G (p.Gln108Arg) n.524A>G c.317A>G (p.Gln106Arg) c.605A>G (p.Gln202Arg) | |
| 7 | g.129839218T>G | CA369449056 | UBE2H | c.416A>C (p.Gln139Pro) c.206A>C (p.Gln69Pro) c.356A>C (p.Gln119Pro) c.323A>C (p.Gln108Pro) n.524A>C c.317A>C (p.Gln106Pro) c.605A>C (p.Gln202Pro) | |
| 7 | g.129839219del | CA2684877505 | UBE2H | c.415del (p.Gln139ArgfsTer16) c.205del (p.Gln69ArgfsTer16) c.355del (p.Gln119ArgfsTer?) c.322del (p.Gln108ArgfsTer16) n.523del c.316del (p.Gln106ArgfsTer16) c.604del (p.Gln202ArgfsTer16) | gnomAD v4 |
| 7 | g.129839219G>A | CA369449064 | UBE2H | c.415C>T (p.Gln139Ter) c.205C>T (p.Gln69Ter) c.355C>T (p.Gln119Ter) c.322C>T (p.Gln108Ter) n.523C>T c.316C>T (p.Gln106Ter) c.604C>T (p.Gln202Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.129839219G>C | CA369449062 | UBE2H | c.415C>G (p.Gln139Glu) c.205C>G (p.Gln69Glu) c.355C>G (p.Gln119Glu) c.322C>G (p.Gln108Glu) n.523C>G c.316C>G (p.Gln106Glu) c.604C>G (p.Gln202Glu) | dbSNP |
| 7 | g.129839219G= | CA1743017340 | UBE2H | c.415C= (p.Gln139=) c.205C= (p.Gln69=) c.355C= (p.Gln119=) c.322C= (p.Gln108=) n.523C= c.316C= (p.Gln106=) c.604C= (p.Gln202=) | |
| 7 | g.129839219G>T | CA369449063 | UBE2H | c.415C>A (p.Gln139Lys) c.205C>A (p.Gln69Lys) c.355C>A (p.Gln119Lys) c.322C>A (p.Gln108Lys) n.523C>A c.316C>A (p.Gln106Lys) c.604C>A (p.Gln202Lys) | |
| 7 | g.129839220C>A | CA369449065 | UBE2H | c.414G>T (p.Lys138Asn) c.204G>T (p.Lys68Asn) c.354G>T (p.Lys118Asn) c.321G>T (p.Lys107Asn) n.522G>T c.315G>T (p.Lys105Asn) c.603G>T (p.Lys201Asn) | |
| 7 | g.129839220C>G | CA369449066 | UBE2H | c.414G>C (p.Lys138Asn) c.204G>C (p.Lys68Asn) c.354G>C (p.Lys118Asn) c.321G>C (p.Lys107Asn) n.522G>C c.315G>C (p.Lys105Asn) c.603G>C (p.Lys201Asn) | |
| 7 | g.129839220C>T | CA457730335 | UBE2H | c.414G>A (p.Lys138=) c.204G>A (p.Lys68=) c.354G>A (p.Lys118=) c.321G>A (p.Lys107=) n.522G>A c.315G>A (p.Lys105=) c.603G>A (p.Lys201=) | |
| 7 | g.129839221T>A | CA369449067 | UBE2H | c.413A>T (p.Lys138Met) c.203A>T (p.Lys68Met) c.353A>T (p.Lys118Met) c.320A>T (p.Lys107Met) n.521A>T c.314A>T (p.Lys105Met) c.602A>T (p.Lys201Met) | |
| 7 | g.129839221T>C | CA369449068 | UBE2H | c.413A>G (p.Lys138Arg) c.203A>G (p.Lys68Arg) c.353A>G (p.Lys118Arg) c.320A>G (p.Lys107Arg) n.521A>G c.314A>G (p.Lys105Arg) c.602A>G (p.Lys201Arg) | |
| 7 | g.129839221T>G | CA369449069 | UBE2H | c.413A>C (p.Lys138Thr) c.203A>C (p.Lys68Thr) c.353A>C (p.Lys118Thr) c.320A>C (p.Lys107Thr) n.521A>C c.314A>C (p.Lys105Thr) c.602A>C (p.Lys201Thr) | |
| 7 | g.129839222T>A | CA369449070 | UBE2H | c.412A>T (p.Lys138Ter) c.202A>T (p.Lys68Ter) c.352A>T (p.Lys118Ter) c.319A>T (p.Lys107Ter) n.520A>T c.313A>T (p.Lys105Ter) c.601A>T (p.Lys201Ter) | |
| 7 | g.129839222T>C | CA369449071 | UBE2H | c.412A>G (p.Lys138Glu) c.202A>G (p.Lys68Glu) c.352A>G (p.Lys118Glu) c.319A>G (p.Lys107Glu) n.520A>G c.313A>G (p.Lys105Glu) c.601A>G (p.Lys201Glu) | |
| 7 | g.129839222T>G | CA369449072 | UBE2H | c.412A>C (p.Lys138Gln) c.202A>C (p.Lys68Gln) c.352A>C (p.Lys118Gln) c.319A>C (p.Lys107Gln) n.520A>C c.313A>C (p.Lys105Gln) c.601A>C (p.Lys201Gln) | |
| 7 | g.129839223G>A | CA457730337 | UBE2H | c.411C>T (p.Tyr137=) c.201C>T (p.Tyr67=) c.351C>T (p.Tyr117=) c.318C>T (p.Tyr106=) n.519C>T c.312C>T (p.Tyr104=) c.600C>T (p.Tyr200=) | gnomAD v4 |
| 7 | g.129839223G>C | CA369449073 | UBE2H | c.411C>G (p.Tyr137Ter) c.201C>G (p.Tyr67Ter) c.351C>G (p.Tyr117Ter) c.318C>G (p.Tyr106Ter) n.519C>G c.312C>G (p.Tyr104Ter) c.600C>G (p.Tyr200Ter) | |
| 7 | g.129839223G>T | CA369449074 | UBE2H | c.411C>A (p.Tyr137Ter) c.201C>A (p.Tyr67Ter) c.351C>A (p.Tyr117Ter) c.318C>A (p.Tyr106Ter) n.519C>A c.312C>A (p.Tyr104Ter) c.600C>A (p.Tyr200Ter) | |
| 7 | g.129839224T>A | CA4481480 | UBE2H | c.410A>T (p.Tyr137Phe) c.200A>T (p.Tyr67Phe) c.350A>T (p.Tyr117Phe) c.317A>T (p.Tyr106Phe) n.518A>T c.311A>T (p.Tyr104Phe) c.599A>T (p.Tyr200Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.129839224T>C | CA369449076 | UBE2H | c.410A>G (p.Tyr137Cys) c.200A>G (p.Tyr67Cys) c.350A>G (p.Tyr117Cys) c.317A>G (p.Tyr106Cys) n.518A>G c.311A>G (p.Tyr104Cys) c.599A>G (p.Tyr200Cys) | |
| 7 | g.129839224T>G | CA369449075 | UBE2H | c.410A>C (p.Tyr137Ser) c.200A>C (p.Tyr67Ser) c.350A>C (p.Tyr117Ser) c.317A>C (p.Tyr106Ser) n.518A>C c.311A>C (p.Tyr104Ser) c.599A>C (p.Tyr200Ser) | |
| 7 | g.129839224T= | CA1743017345 | UBE2H | c.410A= (p.Tyr137=) c.200A= (p.Tyr67=) c.350A= (p.Tyr117=) c.317A= (p.Tyr106=) n.518A= c.311A= (p.Tyr104=) c.599A= (p.Tyr200=) | |
| 7 | g.129839225A>C | CA369449077 | UBE2H | c.409T>G (p.Tyr137Asp) c.199T>G (p.Tyr67Asp) c.349T>G (p.Tyr117Asp) c.316T>G (p.Tyr106Asp) c.436T>G (n.436T>G) n.517T>G c.310T>G (p.Tyr104Asp) c.598T>G (p.Tyr200Asp) | |
| 7 | g.129839225A>G | CA369449078 | UBE2H | c.409T>C (p.Tyr137His) c.199T>C (p.Tyr67His) c.349T>C (p.Tyr117His) c.316T>C (p.Tyr106His) c.436T>C (n.436T>C) n.517T>C c.310T>C (p.Tyr104His) c.598T>C (p.Tyr200His) | |
| 7 | g.129839225A>T | CA369449079 | UBE2H | c.409T>A (p.Tyr137Asn) c.199T>A (p.Tyr67Asn) c.349T>A (p.Tyr117Asn) c.316T>A (p.Tyr106Asn) c.436T>A (n.436T>A) n.517T>A c.310T>A (p.Tyr104Asn) c.598T>A (p.Tyr200Asn) | |
| 7 | g.129839226T>A | CA369449080 | UBE2H | c.408A>T (p.Glu136Asp) c.198A>T (p.Glu66Asp) c.348A>T (p.Glu116Asp) c.315A>T (p.Glu105Asp) c.435A>T (n.435A>T) n.516A>T c.309A>T (p.Glu103Asp) c.597A>T (p.Glu199Asp) | |
| 7 | g.129839226T>C | CA457730338 | UBE2H | c.408A>G (p.Glu136=) c.198A>G (p.Glu66=) c.348A>G (p.Glu116=) c.315A>G (p.Glu105=) c.435A>G (n.435A>G) n.516A>G c.309A>G (p.Glu103=) c.597A>G (p.Glu199=) | gnomAD v3 gnomAD v4 |
| 7 | g.129839226T>G | CA369449081 | UBE2H | c.408A>C (p.Glu136Asp) c.198A>C (p.Glu66Asp) c.348A>C (p.Glu116Asp) c.315A>C (p.Glu105Asp) c.435A>C (n.435A>C) n.516A>C c.309A>C (p.Glu103Asp) c.597A>C (p.Glu199Asp) | |
| 7 | g.129839227T>A | CA369449084 | UBE2H | c.407A>T (p.Glu136Val) c.197A>T (p.Glu66Val) c.347A>T (p.Glu116Val) c.314A>T (p.Glu105Val) c.434A>T (n.434A>T) n.515A>T c.308A>T (p.Glu103Val) c.596A>T (p.Glu199Val) | |
| 7 | g.129839227T>C | CA369449082 | UBE2H | c.407A>G (p.Glu136Gly) c.197A>G (p.Glu66Gly) c.347A>G (p.Glu116Gly) c.314A>G (p.Glu105Gly) c.434A>G (n.434A>G) n.515A>G c.308A>G (p.Glu103Gly) c.596A>G (p.Glu199Gly) | |
| 7 | g.129839227T>G | CA369449083 | UBE2H | c.407A>C (p.Glu136Ala) c.197A>C (p.Glu66Ala) c.347A>C (p.Glu116Ala) c.314A>C (p.Glu105Ala) c.434A>C (n.434A>C) n.515A>C c.308A>C (p.Glu103Ala) c.596A>C (p.Glu199Ala) | |
| 7 | g.129839228C>A | CA369449085 | UBE2H | c.406G>T (p.Glu136Ter) c.196G>T (p.Glu66Ter) c.346G>T (p.Glu116Ter) c.313G>T (p.Glu105Ter) c.433G>T (n.433G>T) n.514G>T c.307G>T (p.Glu103Ter) c.595G>T (p.Glu199Ter) | |
| 7 | g.129839228C>G | CA369449086 | UBE2H | c.406G>C (p.Glu136Gln) c.196G>C (p.Glu66Gln) c.346G>C (p.Glu116Gln) c.313G>C (p.Glu105Gln) c.433G>C (n.433G>C) n.514G>C c.307G>C (p.Glu103Gln) c.595G>C (p.Glu199Gln) | |
| 7 | g.129839228C>T | CA369449087 | UBE2H | c.406G>A (p.Glu136Lys) c.196G>A (p.Glu66Lys) c.346G>A (p.Glu116Lys) c.313G>A (p.Glu105Lys) c.433G>A (n.433G>A) n.514G>A c.307G>A (p.Glu103Lys) c.595G>A (p.Glu199Lys) | |
| 7 | g.129839229T>A | CA369449088 | UBE2H | c.405A>T (p.Glu135Asp) c.195A>T (p.Glu65Asp) c.345A>T (p.Glu115Asp) c.312A>T (p.Glu104Asp) c.432A>T (n.432A>T) n.513A>T c.306A>T (p.Glu102Asp) c.594A>T (p.Glu198Asp) | |
| 7 | g.129839229T>C | CA457730339 | UBE2H | c.405A>G (p.Glu135=) c.195A>G (p.Glu65=) c.345A>G (p.Glu115=) c.312A>G (p.Glu104=) c.432A>G (n.432A>G) n.513A>G c.306A>G (p.Glu102=) c.594A>G (p.Glu198=) | |
| 7 | g.129839229T>G | CA369449089 | UBE2H | c.405A>C (p.Glu135Asp) c.195A>C (p.Glu65Asp) c.345A>C (p.Glu115Asp) c.312A>C (p.Glu104Asp) c.432A>C (n.432A>C) n.513A>C c.306A>C (p.Glu102Asp) c.594A>C (p.Glu198Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.129839230T>A | CA369449092 | UBE2H | c.404A>T (p.Glu135Val) c.194A>T (p.Glu65Val) c.344A>T (p.Glu115Val) c.311A>T (p.Glu104Val) c.431A>T (n.431A>T) n.512A>T c.305A>T (p.Glu102Val) c.593A>T (p.Glu198Val) | |
| 7 | g.129839230T>C | CA369449091 | UBE2H | c.404A>G (p.Glu135Gly) c.194A>G (p.Glu65Gly) c.344A>G (p.Glu115Gly) c.311A>G (p.Glu104Gly) c.431A>G (n.431A>G) n.512A>G c.305A>G (p.Glu102Gly) c.593A>G (p.Glu198Gly) | |
| 7 | g.129839230T>G | CA369449090 | UBE2H | c.404A>C (p.Glu135Ala) c.194A>C (p.Glu65Ala) c.344A>C (p.Glu115Ala) c.311A>C (p.Glu104Ala) c.431A>C (n.431A>C) n.512A>C c.305A>C (p.Glu102Ala) c.593A>C (p.Glu198Ala) | |
| 7 | g.129839231C>A | CA369449093 | UBE2H | c.403G>T (p.Glu135Ter) c.193G>T (p.Glu65Ter) c.343G>T (p.Glu115Ter) c.310G>T (p.Glu104Ter) c.430G>T (n.430G>T) n.511G>T c.304G>T (p.Glu102Ter) c.592G>T (p.Glu198Ter) | |
| 7 | g.129839231C>G | CA369449094 | UBE2H | c.403G>C (p.Glu135Gln) c.193G>C (p.Glu65Gln) c.343G>C (p.Glu115Gln) c.310G>C (p.Glu104Gln) c.430G>C (n.430G>C) n.511G>C c.304G>C (p.Glu102Gln) c.592G>C (p.Glu198Gln) | |
| 7 | g.129839231C>T | CA369449095 | UBE2H | c.403G>A (p.Glu135Lys) c.193G>A (p.Glu65Lys) c.343G>A (p.Glu115Lys) c.310G>A (p.Glu104Lys) c.430G>A (n.430G>A) n.511G>A c.304G>A (p.Glu102Lys) c.592G>A (p.Glu198Lys) | COSMIC |
| 7 | g.129839232T>A | CA457730340 | UBE2H | c.402A>T (p.Pro134=) c.192A>T (p.Pro64=) c.342A>T (p.Pro114=) c.309A>T (p.Pro103=) c.429A>T (n.429A>T) n.510A>T c.303A>T (p.Pro101=) c.591A>T (p.Pro197=) | |
| 7 | g.129839232T>C | CA166840080 | UBE2H | c.402A>G (p.Pro134=) c.192A>G (p.Pro64=) c.342A>G (p.Pro114=) c.309A>G (p.Pro103=) c.429A>G (n.429A>G) n.510A>G c.303A>G (p.Pro101=) c.591A>G (p.Pro197=) | dbSNP |
| 7 | g.129839232T>G | CA457730341 | UBE2H | c.402A>C (p.Pro134=) c.192A>C (p.Pro64=) c.342A>C (p.Pro114=) c.309A>C (p.Pro103=) c.429A>C (n.429A>C) n.510A>C c.303A>C (p.Pro101=) c.591A>C (p.Pro197=) | |
| 7 | g.129839232T= | CA1743017347 | UBE2H | c.402A= (p.Pro134=) c.192A= (p.Pro64=) c.342A= (p.Pro114=) c.309A= (p.Pro103=) c.429A= (n.429A=) n.510A= c.303A= (p.Pro101=) c.591A= (p.Pro197=) | |
| 7 | g.129839233G>A | CA369449096 | UBE2H | c.401C>T (p.Pro134Leu) c.191C>T (p.Pro64Leu) c.341C>T (p.Pro114Leu) c.308C>T (p.Pro103Leu) c.428C>T (n.428C>T) n.509C>T c.302C>T (p.Pro101Leu) c.590C>T (p.Pro197Leu) | |
| 7 | g.129839233G>C | CA369449097 | UBE2H | c.401C>G (p.Pro134Arg) c.191C>G (p.Pro64Arg) c.341C>G (p.Pro114Arg) c.308C>G (p.Pro103Arg) c.428C>G (n.428C>G) n.509C>G c.302C>G (p.Pro101Arg) c.590C>G (p.Pro197Arg) | |
| 7 | g.129839233G>T | CA369449098 | UBE2H | c.401C>A (p.Pro134Gln) c.191C>A (p.Pro64Gln) c.341C>A (p.Pro114Gln) c.308C>A (p.Pro103Gln) c.428C>A (n.428C>A) n.509C>A c.302C>A (p.Pro101Gln) c.590C>A (p.Pro197Gln) | |
| 7 | g.129839234G>A | CA369449099 | UBE2H | c.400C>T (p.Pro134Ser) c.190C>T (p.Pro64Ser) c.340C>T (p.Pro114Ser) c.307C>T (p.Pro103Ser) c.427C>T (n.427C>T) n.508C>T c.301C>T (p.Pro101Ser) c.589C>T (p.Pro197Ser) | |
| 7 | g.129839234G>C | CA369449100 | UBE2H | c.400C>G (p.Pro134Ala) c.190C>G (p.Pro64Ala) c.340C>G (p.Pro114Ala) c.307C>G (p.Pro103Ala) c.427C>G (n.427C>G) n.508C>G c.301C>G (p.Pro101Ala) c.589C>G (p.Pro197Ala) | |
| 7 | g.129839234G>T | CA369449101 | UBE2H | c.400C>A (p.Pro134Thr) c.190C>A (p.Pro64Thr) c.340C>A (p.Pro114Thr) c.307C>A (p.Pro103Thr) c.427C>A (n.427C>A) n.508C>A c.301C>A (p.Pro101Thr) c.589C>A (p.Pro197Thr) | |
| 7 | g.129839235T>A | CA457730342 | UBE2H | c.399A>T (p.Arg133=) c.189A>T (p.Arg63=) c.339A>T (p.Arg113=) c.306A>T (p.Arg102=) c.426A>T (n.426A>T) n.507A>T c.300A>T (p.Arg100=) c.588A>T (p.Arg196=) | |
| 7 | g.129839235T>C | CA457730344 | UBE2H | c.399A>G (p.Arg133=) c.189A>G (p.Arg63=) c.339A>G (p.Arg113=) c.306A>G (p.Arg102=) c.426A>G (n.426A>G) n.507A>G c.300A>G (p.Arg100=) c.588A>G (p.Arg196=) | dbSNP |
| 7 | g.129839235T>G | CA457730343 | UBE2H | c.399A>C (p.Arg133=) c.189A>C (p.Arg63=) c.339A>C (p.Arg113=) c.306A>C (p.Arg102=) c.426A>C (n.426A>C) n.507A>C c.300A>C (p.Arg100=) c.588A>C (p.Arg196=) | |
| 7 | g.129839235T= | CA1743017349 | UBE2H | c.399A= (p.Arg133=) c.189A= (p.Arg63=) c.339A= (p.Arg113=) c.306A= (p.Arg102=) c.426A= (n.426A=) n.507A= c.300A= (p.Arg100=) c.588A= (p.Arg196=) | |
| 7 | g.129839236C>A | CA369449102 | UBE2H | c.398G>T (p.Arg133Leu) c.188G>T (p.Arg63Leu) c.338G>T (p.Arg113Leu) c.305G>T (p.Arg102Leu) c.425G>T (n.425G>T) n.506G>T c.299G>T (p.Arg100Leu) c.587G>T (p.Arg196Leu) | |
| 7 | g.129839236C= | CA1743017351 | UBE2H | c.398G= (p.Arg133=) c.188G= (p.Arg63=) c.338G= (p.Arg113=) c.305G= (p.Arg102=) c.425G= (n.425G=) n.506G= c.299G= (p.Arg100=) c.587G= (p.Arg196=) | |
| 7 | g.129839236C>G | CA369449103 | UBE2H | c.398G>C (p.Arg133Pro) c.188G>C (p.Arg63Pro) c.338G>C (p.Arg113Pro) c.305G>C (p.Arg102Pro) c.425G>C (n.425G>C) n.506G>C c.299G>C (p.Arg100Pro) c.587G>C (p.Arg196Pro) | |
| 7 | g.129839236C>T | CA369449104 | UBE2H | c.398G>A (p.Arg133Gln) c.188G>A (p.Arg63Gln) c.338G>A (p.Arg113Gln) c.305G>A (p.Arg102Gln) c.425G>A (n.425G>A) n.506G>A c.299G>A (p.Arg100Gln) c.587G>A (p.Arg196Gln) | dbSNP gnomAD v4 |
| 7 | g.129839237G>A | CA369449106 | UBE2H | c.397C>T (p.Arg133Ter) c.187C>T (p.Arg63Ter) c.337C>T (p.Arg113Ter) c.304C>T (p.Arg102Ter) c.424C>T (n.424C>T) n.505C>T c.298C>T (p.Arg100Ter) c.586C>T (p.Arg196Ter) | |
| 7 | g.129839237G>C | CA369449105 | UBE2H | c.397C>G (p.Arg133Gly) c.187C>G (p.Arg63Gly) c.337C>G (p.Arg113Gly) c.304C>G (p.Arg102Gly) c.424C>G (n.424C>G) n.505C>G c.298C>G (p.Arg100Gly) c.586C>G (p.Arg196Gly) | |
| 7 | g.129839237G>T | CA457730345 | UBE2H | c.397C>A (p.Arg133=) c.187C>A (p.Arg63=) c.337C>A (p.Arg113=) c.304C>A (p.Arg102=) c.424C>A (n.424C>A) n.505C>A c.298C>A (p.Arg100=) c.586C>A (p.Arg196=) | |
| 7 | g.129839238G>A | CA457730346 | UBE2H | c.396C>T (p.His132=) c.186C>T (p.His62=) c.336C>T (p.His112=) c.303C>T (p.His101=) c.423C>T (n.423C>T) n.504C>T c.297C>T (p.His99=) c.585C>T (p.His195=) | gnomAD v4 |
| 7 | g.129839238G>C | CA369449107 | UBE2H | c.396C>G (p.His132Gln) c.186C>G (p.His62Gln) c.336C>G (p.His112Gln) c.303C>G (p.His101Gln) c.423C>G (n.423C>G) n.504C>G c.297C>G (p.His99Gln) c.585C>G (p.His195Gln) | |
| 7 | g.129839238G>T | CA369449108 | UBE2H | c.396C>A (p.His132Gln) c.186C>A (p.His62Gln) c.336C>A (p.His112Gln) c.303C>A (p.His101Gln) c.423C>A (n.423C>A) n.504C>A c.297C>A (p.His99Gln) c.585C>A (p.His195Gln) | COSMIC |
| 7 | g.129839239T>A | CA369449109 | UBE2H | c.395A>T (p.His132Leu) c.185A>T (p.His62Leu) c.335A>T (p.His112Leu) c.302A>T (p.His101Leu) c.422A>T (n.422A>T) n.503A>T c.296A>T (p.His99Leu) c.584A>T (p.His195Leu) | |
| 7 | g.129839239T>C | CA369449110 | UBE2H | c.395A>G (p.His132Arg) c.185A>G (p.His62Arg) c.335A>G (p.His112Arg) c.302A>G (p.His101Arg) c.422A>G (n.422A>G) n.503A>G c.296A>G (p.His99Arg) c.584A>G (p.His195Arg) | |
| 7 | g.129839239T>G | CA369449111 | UBE2H | c.395A>C (p.His132Pro) c.185A>C (p.His62Pro) c.335A>C (p.His112Pro) c.302A>C (p.His101Pro) c.422A>C (n.422A>C) n.503A>C c.296A>C (p.His99Pro) c.584A>C (p.His195Pro) | |
| 7 | g.129839240G>A | CA369449112 | UBE2H | c.394C>T (p.His132Tyr) c.184C>T (p.His62Tyr) c.334C>T (p.His112Tyr) c.301C>T (p.His101Tyr) c.421C>T (n.421C>T) n.502C>T c.295C>T (p.His99Tyr) c.583C>T (p.His195Tyr) | |
| 7 | g.129839240G>C | CA369449113 | UBE2H | c.394C>G (p.His132Asp) c.184C>G (p.His62Asp) c.334C>G (p.His112Asp) c.301C>G (p.His101Asp) c.421C>G (n.421C>G) n.502C>G c.295C>G (p.His99Asp) c.583C>G (p.His195Asp) | |
| 7 | g.129839240G>T | CA369449114 | UBE2H | c.394C>A (p.His132Asn) c.184C>A (p.His62Asn) c.334C>A (p.His112Asn) c.301C>A (p.His101Asn) c.421C>A (n.421C>A) n.502C>A c.295C>A (p.His99Asn) c.583C>A (p.His195Asn) | |
| 7 | g.129839241G>A | CA457730347 | UBE2H | c.393C>T (p.Leu131=) c.183C>T (p.Leu61=) c.333C>T (p.Leu111=) c.300C>T (p.Leu100=) c.420C>T (n.420C>T) n.501C>T c.294C>T (p.Leu98=) c.582C>T (p.Leu194=) | |
| 7 | g.129839241G>C | CA457730348 | UBE2H | c.393C>G (p.Leu131=) c.183C>G (p.Leu61=) c.333C>G (p.Leu111=) c.300C>G (p.Leu100=) c.420C>G (n.420C>G) n.501C>G c.294C>G (p.Leu98=) c.582C>G (p.Leu194=) | |
| 7 | g.129839241G>T | CA457730349 | UBE2H | c.393C>A (p.Leu131=) c.183C>A (p.Leu61=) c.333C>A (p.Leu111=) c.300C>A (p.Leu100=) c.420C>A (n.420C>A) n.501C>A c.294C>A (p.Leu98=) c.582C>A (p.Leu194=) | |
| 7 | g.129839242A>C | CA369449115 | UBE2H | c.392T>G (p.Leu131Arg) c.182T>G (p.Leu61Arg) c.332T>G (p.Leu111Arg) c.299T>G (p.Leu100Arg) c.419T>G (n.419T>G) n.500T>G c.293T>G (p.Leu98Arg) c.581T>G (p.Leu194Arg) | |
| 7 | g.129839242A>G | CA369449116 | UBE2H | c.392T>C (p.Leu131Pro) c.182T>C (p.Leu61Pro) c.332T>C (p.Leu111Pro) c.299T>C (p.Leu100Pro) c.419T>C (n.419T>C) n.500T>C c.293T>C (p.Leu98Pro) c.581T>C (p.Leu194Pro) | |
| 7 | g.129839242A>T | CA369449117 | UBE2H | c.392T>A (p.Leu131His) c.182T>A (p.Leu61His) c.332T>A (p.Leu111His) c.299T>A (p.Leu100His) c.419T>A (n.419T>A) n.500T>A c.293T>A (p.Leu98His) c.581T>A (p.Leu194His) | |
| 7 | g.129839243G>A | CA369449118 | UBE2H | c.391C>T (p.Leu131Phe) c.181C>T (p.Leu61Phe) c.331C>T (p.Leu111Phe) c.298C>T (p.Leu100Phe) c.418C>T (n.418C>T) n.499C>T c.292C>T (p.Leu98Phe) c.580C>T (p.Leu194Phe) | |
| 7 | g.129839243G>C | CA369449119 | UBE2H | c.391C>G (p.Leu131Val) c.181C>G (p.Leu61Val) c.331C>G (p.Leu111Val) c.298C>G (p.Leu100Val) c.418C>G (n.418C>G) n.499C>G c.292C>G (p.Leu98Val) c.580C>G (p.Leu194Val) | |
| 7 | g.129839243G>T | CA369449120 | UBE2H | c.391C>A (p.Leu131Ile) c.181C>A (p.Leu61Ile) c.331C>A (p.Leu111Ile) c.298C>A (p.Leu100Ile) c.418C>A (n.418C>A) n.499C>A c.292C>A (p.Leu98Ile) c.580C>A (p.Leu194Ile) | |
| 7 | g.129839244G>A | CA457730350 | UBE2H | c.390C>T (p.Tyr130=) c.180C>T (p.Tyr60=) c.330C>T (p.Tyr110=) c.297C>T (p.Tyr99=) c.417C>T (n.417C>T) n.498C>T c.291C>T (p.Tyr97=) c.579C>T (p.Tyr193=) | |
| 7 | g.129839244G>C | CA369449121 | UBE2H | c.390C>G (p.Tyr130Ter) c.180C>G (p.Tyr60Ter) c.330C>G (p.Tyr110Ter) c.297C>G (p.Tyr99Ter) c.417C>G (n.417C>G) n.498C>G c.291C>G (p.Tyr97Ter) c.579C>G (p.Tyr193Ter) | |
| 7 | g.129839244G>T | CA369449122 | UBE2H | c.390C>A (p.Tyr130Ter) c.180C>A (p.Tyr60Ter) c.330C>A (p.Tyr110Ter) c.297C>A (p.Tyr99Ter) c.417C>A (n.417C>A) n.498C>A c.291C>A (p.Tyr97Ter) c.579C>A (p.Tyr193Ter) | |
| 7 | g.129839245T>A | CA369449123 | UBE2H | c.389A>T (p.Tyr130Phe) c.179A>T (p.Tyr60Phe) c.329A>T (p.Tyr110Phe) c.296A>T (p.Tyr99Phe) c.416A>T (n.416A>T) n.497A>T c.290A>T (p.Tyr97Phe) c.578A>T (p.Tyr193Phe) | |
| 7 | g.129839245T>C | CA369449125 | UBE2H | c.389A>G (p.Tyr130Cys) c.179A>G (p.Tyr60Cys) c.329A>G (p.Tyr110Cys) c.296A>G (p.Tyr99Cys) c.416A>G (n.416A>G) n.497A>G c.290A>G (p.Tyr97Cys) c.578A>G (p.Tyr193Cys) | |
| 7 | g.129839245T>G | CA369449124 | UBE2H | c.389A>C (p.Tyr130Ser) c.179A>C (p.Tyr60Ser) c.329A>C (p.Tyr110Ser) c.296A>C (p.Tyr99Ser) c.416A>C (n.416A>C) n.497A>C c.290A>C (p.Tyr97Ser) c.578A>C (p.Tyr193Ser) | gnomAD v4 |
| 7 | g.129839246A>C | CA369449126 | UBE2H | c.388T>G (p.Tyr130Asp) c.178T>G (p.Tyr60Asp) c.328T>G (p.Tyr110Asp) c.295T>G (p.Tyr99Asp) c.415T>G (n.415T>G) n.496T>G c.289T>G (p.Tyr97Asp) c.577T>G (p.Tyr193Asp) | |
| 7 | g.129839246A>G | CA369449128 | UBE2H | c.388T>C (p.Tyr130His) c.178T>C (p.Tyr60His) c.328T>C (p.Tyr110His) c.295T>C (p.Tyr99His) c.415T>C (n.415T>C) n.496T>C c.289T>C (p.Tyr97His) c.577T>C (p.Tyr193His) | |
| 7 | g.129839246A>T | CA369449127 | UBE2H | c.388T>A (p.Tyr130Asn) c.178T>A (p.Tyr60Asn) c.328T>A (p.Tyr110Asn) c.295T>A (p.Tyr99Asn) c.415T>A (n.415T>A) n.496T>A c.289T>A (p.Tyr97Asn) c.577T>A (p.Tyr193Asn) | |
| 7 | g.129839247C>A | CA369449129 | UBE2H | c.387G>T (p.Met129Ile) c.177G>T (p.Met59Ile) c.327G>T (p.Met109Ile) c.294G>T (p.Met98Ile) c.414G>T (n.414G>T) n.495G>T c.288G>T (p.Met96Ile) c.576G>T (p.Met192Ile) | |
| 7 | g.129839247C>G | CA369449131 | UBE2H | c.387G>C (p.Met129Ile) c.177G>C (p.Met59Ile) c.327G>C (p.Met109Ile) c.294G>C (p.Met98Ile) c.414G>C (n.414G>C) n.495G>C c.288G>C (p.Met96Ile) c.576G>C (p.Met192Ile) | |
| 7 | g.129839247C>T | CA369449130 | UBE2H | c.387G>A (p.Met129Ile) c.177G>A (p.Met59Ile) c.327G>A (p.Met109Ile) c.294G>A (p.Met98Ile) c.414G>A (n.414G>A) n.495G>A c.288G>A (p.Met96Ile) c.576G>A (p.Met192Ile) | |
| 7 | g.129839248A>C | CA369449132 | UBE2H | c.386T>G (p.Met129Arg) c.176T>G (p.Met59Arg) c.326T>G (p.Met109Arg) c.293T>G (p.Met98Arg) c.413T>G (n.413T>G) n.494T>G c.287T>G (p.Met96Arg) c.575T>G (p.Met192Arg) | |
| 7 | g.129839248A>G | CA369449134 | UBE2H | c.386T>C (p.Met129Thr) c.176T>C (p.Met59Thr) c.326T>C (p.Met109Thr) c.293T>C (p.Met98Thr) c.413T>C (n.413T>C) n.494T>C c.287T>C (p.Met96Thr) c.575T>C (p.Met192Thr) | gnomAD v4 |
| 7 | g.129839248A>T | CA369449133 | UBE2H | c.386T>A (p.Met129Lys) c.176T>A (p.Met59Lys) c.326T>A (p.Met109Lys) c.293T>A (p.Met98Lys) c.413T>A (n.413T>A) n.494T>A c.287T>A (p.Met96Lys) c.575T>A (p.Met192Lys) | |
| 7 | g.129839249T>A | CA369449135 | UBE2H | c.385A>T (p.Met129Leu) c.175A>T (p.Met59Leu) c.325A>T (p.Met109Leu) c.292A>T (p.Met98Leu) c.412A>T (n.412A>T) n.493A>T c.286A>T (p.Met96Leu) c.574A>T (p.Met192Leu) | |
| 7 | g.129839249T>C | CA369449136 | UBE2H | c.385A>G (p.Met129Val) c.175A>G (p.Met59Val) c.325A>G (p.Met109Val) c.292A>G (p.Met98Val) c.412A>G (n.412A>G) n.493A>G c.286A>G (p.Met96Val) c.574A>G (p.Met192Val) | dbSNP gnomAD v4 |
| 7 | g.129839249T>G | CA369449137 | UBE2H | c.385A>C (p.Met129Leu) c.175A>C (p.Met59Leu) c.325A>C (p.Met109Leu) c.292A>C (p.Met98Leu) c.412A>C (n.412A>C) n.493A>C c.286A>C (p.Met96Leu) c.574A>C (p.Met192Leu) | |
| 7 | g.129839249T= | CA1743017354 | UBE2H | c.385A= (p.Met129=) c.175A= (p.Met59=) c.325A= (p.Met109=) c.292A= (p.Met98=) c.412A= (n.412A=) n.493A= c.286A= (p.Met96=) c.574A= (p.Met192=) | |
| 7 | g.129839250G>A | CA457730352 | UBE2H | c.384C>T (p.Ala128=) c.174C>T (p.Ala58=) c.324C>T (p.Ala108=) c.291C>T (p.Ala97=) c.411C>T (n.411C>T) n.492C>T c.285C>T (p.Ala95=) c.573C>T (p.Ala191=) | gnomAD v4 |
| 7 | g.129839250G>C | CA457730353 | UBE2H | c.384C>G (p.Ala128=) c.174C>G (p.Ala58=) c.324C>G (p.Ala108=) c.291C>G (p.Ala97=) c.411C>G (n.411C>G) n.492C>G c.285C>G (p.Ala95=) c.573C>G (p.Ala191=) | dbSNP gnomAD v4 |
| 7 | g.129839250G= | CA1743017357 | UBE2H | c.384C= (p.Ala128=) c.174C= (p.Ala58=) c.324C= (p.Ala108=) c.291C= (p.Ala97=) c.411C= (n.411C=) n.492C= c.285C= (p.Ala95=) c.573C= (p.Ala191=) | |
| 7 | g.129839250G>T | CA457730354 | UBE2H | c.384C>A (p.Ala128=) c.174C>A (p.Ala58=) c.324C>A (p.Ala108=) c.291C>A (p.Ala97=) c.411C>A (n.411C>A) n.492C>A c.285C>A (p.Ala95=) c.573C>A (p.Ala191=) | |
| 7 | g.129839251G>A | CA369449138 | UBE2H | c.383C>T (p.Ala128Val) c.173C>T (p.Ala58Val) c.323C>T (p.Ala108Val) c.290C>T (p.Ala97Val) c.410C>T (n.410C>T) n.491C>T c.284C>T (p.Ala95Val) c.572C>T (p.Ala191Val) | |
| 7 | g.129839251G>C | CA369449139 | UBE2H | c.383C>G (p.Ala128Gly) c.173C>G (p.Ala58Gly) c.323C>G (p.Ala108Gly) c.290C>G (p.Ala97Gly) c.410C>G (n.410C>G) n.491C>G c.284C>G (p.Ala95Gly) c.572C>G (p.Ala191Gly) | gnomAD v4 |
| 7 | g.129839251G>T | CA369449140 | UBE2H | c.383C>A (p.Ala128Asp) c.173C>A (p.Ala58Asp) c.323C>A (p.Ala108Asp) c.290C>A (p.Ala97Asp) c.410C>A (n.410C>A) n.491C>A c.284C>A (p.Ala95Asp) c.572C>A (p.Ala191Asp) | |
| 7 | g.129839252C>A | CA369449141 | UBE2H | c.382G>T (p.Ala128Ser) c.172G>T (p.Ala58Ser) c.322G>T (p.Ala108Ser) c.289G>T (p.Ala97Ser) c.409G>T (n.409G>T) n.490G>T c.283G>T (p.Ala95Ser) c.571G>T (p.Ala191Ser) | |
| 7 | g.129839252C>G | CA369449142 | UBE2H | c.382G>C (p.Ala128Pro) c.172G>C (p.Ala58Pro) c.322G>C (p.Ala108Pro) c.289G>C (p.Ala97Pro) c.409G>C (n.409G>C) n.490G>C c.283G>C (p.Ala95Pro) c.571G>C (p.Ala191Pro) | |
| 7 | g.129839252C>T | CA369449143 | UBE2H | c.382G>A (p.Ala128Thr) c.172G>A (p.Ala58Thr) c.322G>A (p.Ala108Thr) c.289G>A (p.Ala97Thr) c.409G>A (n.409G>A) n.490G>A c.283G>A (p.Ala95Thr) c.571G>A (p.Ala191Thr) | |
| 7 | g.129839253T>A | CA457730355 | UBE2H | c.381A>T (p.Ala127=) c.171A>T (p.Ala57=) c.321A>T (p.Ala107=) c.288A>T (p.Ala96=) c.408A>T (n.408A>T) n.489A>T c.282A>T (p.Ala94=) c.570A>T (p.Ala190=) | |
| 7 | g.129839253T>C | CA457730356 | UBE2H | c.381A>G (p.Ala127=) c.171A>G (p.Ala57=) c.321A>G (p.Ala107=) c.288A>G (p.Ala96=) c.408A>G (n.408A>G) n.489A>G c.282A>G (p.Ala94=) c.570A>G (p.Ala190=) | |
| 7 | g.129839253T>G | CA457730357 | UBE2H | c.381A>C (p.Ala127=) c.171A>C (p.Ala57=) c.321A>C (p.Ala107=) c.288A>C (p.Ala96=) c.408A>C (n.408A>C) n.489A>C c.282A>C (p.Ala94=) c.570A>C (p.Ala190=) | |
| 7 | g.129839254G>A | CA369449144 | UBE2H | c.380C>T (p.Ala127Val) c.170C>T (p.Ala57Val) c.320C>T (p.Ala107Val) c.287C>T (p.Ala96Val) c.407C>T (n.407C>T) n.488C>T c.281C>T (p.Ala94Val) c.569C>T (p.Ala190Val) | |
| 7 | g.129839254G>C | CA369449145 | UBE2H | c.380C>G (p.Ala127Gly) c.170C>G (p.Ala57Gly) c.320C>G (p.Ala107Gly) c.287C>G (p.Ala96Gly) c.407C>G (n.407C>G) n.488C>G c.281C>G (p.Ala94Gly) c.569C>G (p.Ala190Gly) | |
| 7 | g.129839254G>T | CA369449146 | UBE2H | c.380C>A (p.Ala127Glu) c.170C>A (p.Ala57Glu) c.320C>A (p.Ala107Glu) c.287C>A (p.Ala96Glu) c.407C>A (n.407C>A) n.488C>A c.281C>A (p.Ala94Glu) c.569C>A (p.Ala190Glu) | |
| 7 | g.129839255C>A | CA369449147 | UBE2H | c.379G>T (p.Ala127Ser) c.169G>T (p.Ala57Ser) c.319G>T (p.Ala107Ser) c.286G>T (p.Ala96Ser) c.406G>T (n.406G>T) n.487G>T c.280G>T (p.Ala94Ser) c.568G>T (p.Ala190Ser) | |
| 7 | g.129839255C>G | CA369449149 | UBE2H | c.379G>C (p.Ala127Pro) c.169G>C (p.Ala57Pro) c.319G>C (p.Ala107Pro) c.286G>C (p.Ala96Pro) c.406G>C (n.406G>C) n.487G>C c.280G>C (p.Ala94Pro) c.568G>C (p.Ala190Pro) | |
| 7 | g.129839255C>T | CA369449148 | UBE2H | c.379G>A (p.Ala127Thr) c.169G>A (p.Ala57Thr) c.319G>A (p.Ala107Thr) c.286G>A (p.Ala96Thr) c.406G>A (n.406G>A) n.487G>A c.280G>A (p.Ala94Thr) c.568G>A (p.Ala190Thr) | |
| 7 | g.129839256A= | CA1743017360 | UBE2H | c.378T= (p.Ala126=) c.168T= (p.Ala56=) c.318T= (p.Ala106=) c.285T= (p.Ala95=) c.405T= (n.405T=) n.486T= c.279T= (p.Ala93=) c.567T= (p.Ala189=) | |
| 7 | g.129839256A>C | CA457730358 | UBE2H | c.378T>G (p.Ala126=) c.168T>G (p.Ala56=) c.318T>G (p.Ala106=) c.285T>G (p.Ala95=) c.405T>G (n.405T>G) n.486T>G c.279T>G (p.Ala93=) c.567T>G (p.Ala189=) | |
| 7 | g.129839256A>G | CA457730359 | UBE2H | c.378T>C (p.Ala126=) c.168T>C (p.Ala56=) c.318T>C (p.Ala106=) c.285T>C (p.Ala95=) c.405T>C (n.405T>C) n.486T>C c.279T>C (p.Ala93=) c.567T>C (p.Ala189=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129839256A>T | CA457730360 | UBE2H | c.378T>A (p.Ala126=) c.168T>A (p.Ala56=) c.318T>A (p.Ala106=) c.285T>A (p.Ala95=) c.405T>A (n.405T>A) n.486T>A c.279T>A (p.Ala93=) c.567T>A (p.Ala189=) | |
| 7 | g.129839257G>A | CA369449150 | UBE2H | c.377C>T (p.Ala126Val) c.167C>T (p.Ala56Val) c.317C>T (p.Ala106Val) c.284C>T (p.Ala95Val) c.404C>T (n.404C>T) n.485C>T c.278C>T (p.Ala93Val) c.566C>T (p.Ala189Val) | |
| 7 | g.129839257G>C | CA369449151 | UBE2H | c.377C>G (p.Ala126Gly) c.167C>G (p.Ala56Gly) c.317C>G (p.Ala106Gly) c.284C>G (p.Ala95Gly) c.404C>G (n.404C>G) n.485C>G c.278C>G (p.Ala93Gly) c.566C>G (p.Ala189Gly) | |
| 7 | g.129839257G>T | CA369449152 | UBE2H | c.377C>A (p.Ala126Asp) c.167C>A (p.Ala56Asp) c.317C>A (p.Ala106Asp) c.284C>A (p.Ala95Asp) c.404C>A (n.404C>A) n.485C>A c.278C>A (p.Ala93Asp) c.566C>A (p.Ala189Asp) | |
| 7 | g.129839258C>A | CA369449153 | UBE2H | c.376G>T (p.Ala126Ser) c.166G>T (p.Ala56Ser) c.316G>T (p.Ala106Ser) c.283G>T (p.Ala95Ser) c.403G>T (n.403G>T) n.484G>T c.277G>T (p.Ala93Ser) c.565G>T (p.Ala189Ser) | |
| 7 | g.129839258C>G | CA369449154 | UBE2H | c.376G>C (p.Ala126Pro) c.166G>C (p.Ala56Pro) c.316G>C (p.Ala106Pro) c.283G>C (p.Ala95Pro) c.403G>C (n.403G>C) n.484G>C c.277G>C (p.Ala93Pro) c.565G>C (p.Ala189Pro) | |
| 7 | g.129839258C>T | CA369449155 | UBE2H | c.376G>A (p.Ala126Thr) c.166G>A (p.Ala56Thr) c.316G>A (p.Ala106Thr) c.283G>A (p.Ala95Thr) c.403G>A (n.403G>A) n.484G>A c.277G>A (p.Ala93Thr) c.565G>A (p.Ala189Thr) | |
| 7 | g.129839259G>A | CA4481481 | UBE2H | c.375C>T (p.Asp125=) c.165C>T (p.Asp55=) c.315C>T (p.Asp105=) c.282C>T (p.Asp94=) c.402C>T (n.402C>T) n.483C>T c.276C>T (p.Asp92=) c.564C>T (p.Asp188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129839259G>C | CA369449156 | UBE2H | c.375C>G (p.Asp125Glu) c.165C>G (p.Asp55Glu) c.315C>G (p.Asp105Glu) c.282C>G (p.Asp94Glu) c.402C>G (n.402C>G) n.483C>G c.276C>G (p.Asp92Glu) c.564C>G (p.Asp188Glu) | |
| 7 | g.129839259G= | CA1743017363 | UBE2H | c.375C= (p.Asp125=) c.165C= (p.Asp55=) c.315C= (p.Asp105=) c.282C= (p.Asp94=) c.402C= (n.402C=) n.483C= c.276C= (p.Asp92=) c.564C= (p.Asp188=) | |
| 7 | g.129839259G>T | CA166840081 | UBE2H | c.375C>A (p.Asp125Glu) c.165C>A (p.Asp55Glu) c.315C>A (p.Asp105Glu) c.282C>A (p.Asp94Glu) c.402C>A (n.402C>A) n.483C>A c.276C>A (p.Asp92Glu) c.564C>A (p.Asp188Glu) | dbSNP |
| 7 | g.129839260T>A | CA369449159 | UBE2H | c.374A>T (p.Asp125Val) c.164A>T (p.Asp55Val) c.314A>T (p.Asp105Val) c.281A>T (p.Asp94Val) c.401A>T (n.401A>T) n.482A>T c.275A>T (p.Asp92Val) c.563A>T (p.Asp188Val) | |
| 7 | g.129839260T>C | CA369449158 | UBE2H | c.374A>G (p.Asp125Gly) c.164A>G (p.Asp55Gly) c.314A>G (p.Asp105Gly) c.281A>G (p.Asp94Gly) c.401A>G (n.401A>G) n.482A>G c.275A>G (p.Asp92Gly) c.563A>G (p.Asp188Gly) | |
| 7 | g.129839260T>G | CA369449157 | UBE2H | c.374A>C (p.Asp125Ala) c.164A>C (p.Asp55Ala) c.314A>C (p.Asp105Ala) c.281A>C (p.Asp94Ala) c.401A>C (n.401A>C) n.482A>C c.275A>C (p.Asp92Ala) c.563A>C (p.Asp188Ala) | |
| 7 | g.129839261C>A | CA369449160 | UBE2H | c.373G>T (p.Asp125Tyr) c.163G>T (p.Asp55Tyr) c.313G>T (p.Asp105Tyr) c.280G>T (p.Asp94Tyr) c.400G>T (n.400G>T) n.481G>T c.274G>T (p.Asp92Tyr) c.562G>T (p.Asp188Tyr) | |
| 7 | g.129839261C>G | CA369449161 | UBE2H | c.373G>C (p.Asp125His) c.163G>C (p.Asp55His) c.313G>C (p.Asp105His) c.280G>C (p.Asp94His) c.400G>C (n.400G>C) n.481G>C c.274G>C (p.Asp92His) c.562G>C (p.Asp188His) | |
| 7 | g.129839261C>T | CA369449162 | UBE2H | c.373G>A (p.Asp125Asn) c.163G>A (p.Asp55Asn) c.313G>A (p.Asp105Asn) c.280G>A (p.Asp94Asn) c.400G>A (n.400G>A) n.481G>A c.274G>A (p.Asp92Asn) c.562G>A (p.Asp188Asn) | |
| 7 | g.129839262A>C | CA457730362 | UBE2H | c.372T>G (p.Gly124=) c.162T>G (p.Gly54=) c.312T>G (p.Gly104=) c.279T>G (p.Gly93=) c.399T>G (n.399T>G) n.480T>G c.273T>G (p.Gly91=) c.561T>G (p.Gly187=) | |
| 7 | g.129839262A>G | CA457730363 | UBE2H | c.372T>C (p.Gly124=) c.162T>C (p.Gly54=) c.312T>C (p.Gly104=) c.279T>C (p.Gly93=) c.399T>C (n.399T>C) n.480T>C c.273T>C (p.Gly91=) c.561T>C (p.Gly187=) | |
| 7 | g.129839262A>T | CA457730364 | UBE2H | c.372T>A (p.Gly124=) c.162T>A (p.Gly54=) c.312T>A (p.Gly104=) c.279T>A (p.Gly93=) c.399T>A (n.399T>A) n.480T>A c.273T>A (p.Gly91=) c.561T>A (p.Gly187=) | |
| 7 | g.129839263C>A | CA369449163 | UBE2H | c.371G>T (p.Gly124Val) c.161G>T (p.Gly54Val) c.311G>T (p.Gly104Val) c.278G>T (p.Gly93Val) c.398G>T (n.398G>T) n.479G>T c.272G>T (p.Gly91Val) c.560G>T (p.Gly187Val) | |
| 7 | g.129839263C>G | CA369449164 | UBE2H | c.371G>C (p.Gly124Ala) c.161G>C (p.Gly54Ala) c.311G>C (p.Gly104Ala) c.278G>C (p.Gly93Ala) c.398G>C (n.398G>C) n.479G>C c.272G>C (p.Gly91Ala) c.560G>C (p.Gly187Ala) | |
| 7 | g.129839263C>T | CA369449165 | UBE2H | c.371G>A (p.Gly124Asp) c.161G>A (p.Gly54Asp) c.311G>A (p.Gly104Asp) c.278G>A (p.Gly93Asp) c.398G>A (n.398G>A) n.479G>A c.272G>A (p.Gly91Asp) c.560G>A (p.Gly187Asp) | |
| 7 | g.129839264C>A | CA369449166 | UBE2H | c.370G>T (p.Gly124Cys) c.160G>T (p.Gly54Cys) c.310G>T (p.Gly104Cys) c.277G>T (p.Gly93Cys) c.397G>T (n.397G>T) n.478G>T c.271G>T (p.Gly91Cys) c.559G>T (p.Gly187Cys) | |
| 7 | g.129839264C>G | CA369449167 | UBE2H | c.370G>C (p.Gly124Arg) c.160G>C (p.Gly54Arg) c.310G>C (p.Gly104Arg) c.277G>C (p.Gly93Arg) c.397G>C (n.397G>C) n.478G>C c.271G>C (p.Gly91Arg) c.559G>C (p.Gly187Arg) | |
| 7 | g.129839264C>T | CA369449168 | UBE2H | c.370G>A (p.Gly124Ser) c.160G>A (p.Gly54Ser) c.310G>A (p.Gly104Ser) c.277G>A (p.Gly93Ser) c.397G>A (n.397G>A) n.478G>A c.271G>A (p.Gly91Ser) c.559G>A (p.Gly187Ser) | gnomAD v4 COSMIC |
| 7 | g.129839265A>C | CA369449169 | UBE2H | c.369T>G (p.Asn123Lys) c.159T>G (p.Asn53Lys) c.309T>G (p.Asn103Lys) c.276T>G (p.Asn92Lys) c.396T>G (n.396T>G) n.477T>G c.270T>G (p.Asn90Lys) c.558T>G (p.Asn186Lys) | |
| 7 | g.129839265A>G | CA457730367 | UBE2H | c.369T>C (p.Asn123=) c.159T>C (p.Asn53=) c.309T>C (p.Asn103=) c.276T>C (p.Asn92=) c.396T>C (n.396T>C) n.477T>C c.270T>C (p.Asn90=) c.558T>C (p.Asn186=) | |
| 7 | g.129839265A>T | CA369449170 | UBE2H | c.369T>A (p.Asn123Lys) c.159T>A (p.Asn53Lys) c.309T>A (p.Asn103Lys) c.276T>A (p.Asn92Lys) c.396T>A (n.396T>A) n.477T>A c.270T>A (p.Asn90Lys) c.558T>A (p.Asn186Lys) | |
| 7 | g.129839266T>A | CA369449172 | UBE2H | c.368A>T (p.Asn123Ile) c.158A>T (p.Asn53Ile) c.308A>T (p.Asn103Ile) c.275A>T (p.Asn92Ile) c.395A>T (n.395A>T) n.476A>T c.269A>T (p.Asn90Ile) c.557A>T (p.Asn186Ile) | |
| 7 | g.129839266T>C | CA4481482 | UBE2H | c.368A>G (p.Asn123Ser) c.158A>G (p.Asn53Ser) c.308A>G (p.Asn103Ser) c.275A>G (p.Asn92Ser) c.395A>G (n.395A>G) n.476A>G c.269A>G (p.Asn90Ser) c.557A>G (p.Asn186Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.129839266T>G | CA369449171 | UBE2H | c.368A>C (p.Asn123Thr) c.158A>C (p.Asn53Thr) c.308A>C (p.Asn103Thr) c.275A>C (p.Asn92Thr) c.395A>C (n.395A>C) n.476A>C c.269A>C (p.Asn90Thr) c.557A>C (p.Asn186Thr) | |
| 7 | g.129839266T= | CA1743017367 | UBE2H | c.368A= (p.Asn123=) c.158A= (p.Asn53=) c.308A= (p.Asn103=) c.275A= (p.Asn92=) c.395A= (n.395A=) n.476A= c.269A= (p.Asn90=) c.557A= (p.Asn186=) | |
| 7 | g.129839267T>A | CA369449173 | UBE2H | c.367A>T (p.Asn123Tyr) c.157A>T (p.Asn53Tyr) c.307A>T (p.Asn103Tyr) c.274A>T (p.Asn92Tyr) c.394A>T (n.394A>T) n.475A>T c.268A>T (p.Asn90Tyr) c.556A>T (p.Asn186Tyr) | |
| 7 | g.129839267T>C | CA369449174 | UBE2H | c.367A>G (p.Asn123Asp) c.157A>G (p.Asn53Asp) c.307A>G (p.Asn103Asp) c.274A>G (p.Asn92Asp) c.394A>G (n.394A>G) n.475A>G c.268A>G (p.Asn90Asp) c.556A>G (p.Asn186Asp) | |
| 7 | g.129839267T>G | CA369449175 | UBE2H | c.367A>C (p.Asn123His) c.157A>C (p.Asn53His) c.307A>C (p.Asn103His) c.274A>C (p.Asn92His) c.394A>C (n.394A>C) n.475A>C c.268A>C (p.Asn90His) c.556A>C (p.Asn186His) | |
| 7 | g.129839268G>A | CA457730368 | UBE2H | c.366C>T (p.Leu122=) c.156C>T (p.Leu52=) c.306C>T (p.Leu102=) c.273C>T (p.Leu91=) c.393C>T (n.393C>T) n.474C>T c.267C>T (p.Leu89=) c.555C>T (p.Leu185=) | |
| 7 | g.129839268G>C | CA457730369 | UBE2H | c.366C>G (p.Leu122=) c.156C>G (p.Leu52=) c.306C>G (p.Leu102=) c.273C>G (p.Leu91=) c.393C>G (n.393C>G) n.474C>G c.267C>G (p.Leu89=) c.555C>G (p.Leu185=) | |
| 7 | g.129839268G= | CA1743017369 | UBE2H | c.366C= (p.Leu122=) c.156C= (p.Leu52=) c.306C= (p.Leu102=) c.273C= (p.Leu91=) c.393C= (n.393C=) n.474C= c.267C= (p.Leu89=) c.555C= (p.Leu185=) | |
| 7 | g.129839268G>T | CA166840082 | UBE2H | c.366C>A (p.Leu122=) c.156C>A (p.Leu52=) c.306C>A (p.Leu102=) c.273C>A (p.Leu91=) c.393C>A (n.393C>A) n.474C>A c.267C>A (p.Leu89=) c.555C>A (p.Leu185=) | dbSNP |
| 7 | g.129839269A>C | CA369449176 | UBE2H | c.365T>G (p.Leu122Arg) c.155T>G (p.Leu52Arg) c.305T>G (p.Leu102Arg) c.272T>G (p.Leu91Arg) c.392T>G (n.392T>G) n.473T>G c.266T>G (p.Leu89Arg) c.554T>G (p.Leu185Arg) | |
| 7 | g.129839269A>G | CA369449177 | UBE2H | c.365T>C (p.Leu122Pro) c.155T>C (p.Leu52Pro) c.305T>C (p.Leu102Pro) c.272T>C (p.Leu91Pro) c.392T>C (n.392T>C) n.473T>C c.266T>C (p.Leu89Pro) c.554T>C (p.Leu185Pro) | |
| 7 | g.129839269A>T | CA369449178 | UBE2H | c.365T>A (p.Leu122His) c.155T>A (p.Leu52His) c.305T>A (p.Leu102His) c.272T>A (p.Leu91His) c.392T>A (n.392T>A) n.473T>A c.266T>A (p.Leu89His) c.554T>A (p.Leu185His) | |
| 7 | g.129839270G>A | CA369449179 | UBE2H | c.364C>T (p.Leu122Phe) c.154C>T (p.Leu52Phe) c.304C>T (p.Leu102Phe) c.271C>T (p.Leu91Phe) c.391C>T (n.391C>T) n.472C>T c.265C>T (p.Leu89Phe) c.553C>T (p.Leu185Phe) | |
| 7 | g.129839270G>C | CA369449180 | UBE2H | c.364C>G (p.Leu122Val) c.154C>G (p.Leu52Val) c.304C>G (p.Leu102Val) c.271C>G (p.Leu91Val) c.391C>G (n.391C>G) n.472C>G c.265C>G (p.Leu89Val) c.553C>G (p.Leu185Val) | |
| 7 | g.129839270G>T | CA369449181 | UBE2H | c.364C>A (p.Leu122Ile) c.154C>A (p.Leu52Ile) c.304C>A (p.Leu102Ile) c.271C>A (p.Leu91Ile) c.391C>A (n.391C>A) n.472C>A c.265C>A (p.Leu89Ile) c.553C>A (p.Leu185Ile) | |
| 7 | g.129839271A>C | CA457730370 | UBE2H | c.363T>G (p.Pro121=) c.153T>G (p.Pro51=) c.303T>G (p.Pro101=) c.270T>G (p.Pro90=) c.390T>G (n.390T>G) n.471T>G c.264T>G (p.Pro88=) c.552T>G (p.Pro184=) | |
| 7 | g.129839271A>G | CA457730371 | UBE2H | c.363T>C (p.Pro121=) c.153T>C (p.Pro51=) c.303T>C (p.Pro101=) c.270T>C (p.Pro90=) c.390T>C (n.390T>C) n.471T>C c.264T>C (p.Pro88=) c.552T>C (p.Pro184=) | |
| 7 | g.129839271A>T | CA457730372 | UBE2H | c.363T>A (p.Pro121=) c.153T>A (p.Pro51=) c.303T>A (p.Pro101=) c.270T>A (p.Pro90=) c.390T>A (n.390T>A) n.471T>A c.264T>A (p.Pro88=) c.552T>A (p.Pro184=) | |
| 7 | g.129839272G>A | CA369449182 | UBE2H | c.362C>T (p.Pro121Leu) c.152C>T (p.Pro51Leu) c.302C>T (p.Pro101Leu) c.269C>T (p.Pro90Leu) c.389C>T (n.389C>T) n.470C>T c.263C>T (p.Pro88Leu) c.551C>T (p.Pro184Leu) | |
| 7 | g.129839272G>C | CA369449183 | UBE2H | c.362C>G (p.Pro121Arg) c.152C>G (p.Pro51Arg) c.302C>G (p.Pro101Arg) c.269C>G (p.Pro90Arg) c.389C>G (n.389C>G) n.470C>G c.263C>G (p.Pro88Arg) c.551C>G (p.Pro184Arg) | |
| 7 | g.129839272G>T | CA369449184 | UBE2H | c.362C>A (p.Pro121His) c.152C>A (p.Pro51His) c.302C>A (p.Pro101His) c.269C>A (p.Pro90His) c.389C>A (n.389C>A) n.470C>A c.263C>A (p.Pro88His) c.551C>A (p.Pro184His) | |
| 7 | g.129839273G>A | CA369449186 | UBE2H | c.361C>T (p.Pro121Ser) c.151C>T (p.Pro51Ser) c.301C>T (p.Pro101Ser) c.268C>T (p.Pro90Ser) c.388C>T (n.388C>T) n.469C>T c.262C>T (p.Pro88Ser) c.550C>T (p.Pro184Ser) | |
| 7 | g.129839273G>C | CA369449187 | UBE2H | c.361C>G (p.Pro121Ala) c.151C>G (p.Pro51Ala) c.301C>G (p.Pro101Ala) c.268C>G (p.Pro90Ala) c.388C>G (n.388C>G) n.469C>G c.262C>G (p.Pro88Ala) c.550C>G (p.Pro184Ala) | |
| 7 | g.129839273G>T | CA369449185 | UBE2H | c.361C>A (p.Pro121Thr) c.151C>A (p.Pro51Thr) c.301C>A (p.Pro101Thr) c.268C>A (p.Pro90Thr) c.388C>A (n.388C>A) n.469C>A c.262C>A (p.Pro88Thr) c.550C>A (p.Pro184Thr) | |
| 7 | g.129839274A>C | CA369449189 | UBE2H | c.360T>G (p.Asp120Glu) c.150T>G (p.Asp50Glu) c.300T>G (p.Asp100Glu) c.267T>G (p.Asp89Glu) c.387T>G (n.387T>G) n.468T>G c.261T>G (p.Asp87Glu) c.549T>G (p.Asp183Glu) | |
| 7 | g.129839274A>G | CA457730373 | UBE2H | c.360T>C (p.Asp120=) c.150T>C (p.Asp50=) c.300T>C (p.Asp100=) c.267T>C (p.Asp89=) c.387T>C (n.387T>C) n.468T>C c.261T>C (p.Asp87=) c.549T>C (p.Asp183=) | |
| 7 | g.129839274A>T | CA369449188 | UBE2H | c.360T>A (p.Asp120Glu) c.150T>A (p.Asp50Glu) c.300T>A (p.Asp100Glu) c.267T>A (p.Asp89Glu) c.387T>A (n.387T>A) n.468T>A c.261T>A (p.Asp87Glu) c.549T>A (p.Asp183Glu) | |
| 7 | g.129839275T>A | CA369449190 | UBE2H | c.359A>T (p.Asp120Val) c.149A>T (p.Asp50Val) c.299A>T (p.Asp100Val) c.266A>T (p.Asp89Val) c.386A>T (n.386A>T) n.467A>T c.260A>T (p.Asp87Val) c.548A>T (p.Asp183Val) | |
| 7 | g.129839275T>C | CA369449191 | UBE2H | c.359A>G (p.Asp120Gly) c.149A>G (p.Asp50Gly) c.299A>G (p.Asp100Gly) c.266A>G (p.Asp89Gly) c.386A>G (n.386A>G) n.467A>G c.260A>G (p.Asp87Gly) c.548A>G (p.Asp183Gly) | |
| 7 | g.129839275T>G | CA369449192 | UBE2H | c.359A>C (p.Asp120Ala) c.149A>C (p.Asp50Ala) c.299A>C (p.Asp100Ala) c.266A>C (p.Asp89Ala) c.386A>C (n.386A>C) n.467A>C c.260A>C (p.Asp87Ala) c.548A>C (p.Asp183Ala) | |
| 7 | g.129839276C>A | CA369449193 | UBE2H | c.358G>T (p.Asp120Tyr) c.148G>T (p.Asp50Tyr) c.299-1G>T (n.299-1G>T) c.265G>T (p.Asp89Tyr) c.385G>T (n.385G>T) n.466G>T c.259G>T (p.Asp87Tyr) c.547G>T (p.Asp183Tyr) | |
| 7 | g.129839276C>G | CA369449194 | UBE2H | c.358G>C (p.Asp120His) c.148G>C (p.Asp50His) c.299-1G>C (n.299-1G>C) c.265G>C (p.Asp89His) c.385G>C (n.385G>C) n.466G>C c.259G>C (p.Asp87His) c.547G>C (p.Asp183His) | |
| 7 | g.129839276C>T | CA369449195 | UBE2H | c.358G>A (p.Asp120Asn) c.148G>A (p.Asp50Asn) c.299-1G>A (n.299-1G>A) c.265G>A (p.Asp89Asn) c.385G>A (n.385G>A) n.466G>A c.259G>A (p.Asp87Asn) c.547G>A (p.Asp183Asn) | dbSNP |
| 7 | g.129839277T>A | CA369449196 | UBE2H | c.357A>T (p.Ile119=) c.147A>T (p.Ile49=) c.299-2A>T (n.299-2A>T) c.264A>T (p.Ile88=) c.384A>T (n.384A>T) n.465A>T c.258A>T (p.Ile86=) c.546A>T (p.Ile182=) | |
| 7 | g.129839277T>C | CA369449197 | UBE2H | c.357A>G (p.Ile119Met) c.147A>G (p.Ile49Met) c.299-2A>G (n.299-2A>G) c.264A>G (p.Ile88Met) c.384A>G (n.384A>G) n.465A>G c.258A>G (p.Ile86Met) c.546A>G (p.Ile182Met) | |
| 7 | g.129839277T>G | CA369449198 | UBE2H | c.357A>C (p.Ile119=) c.147A>C (p.Ile49=) c.299-2A>C (n.299-2A>C) c.264A>C (p.Ile88=) c.384A>C (n.384A>C) n.465A>C c.258A>C (p.Ile86=) c.546A>C (p.Ile182=) | |
| 7 | g.129839278A>C | CA369449199 | UBE2H | c.356T>G (p.Ile119Arg) c.146T>G (p.Ile49Arg) c.299-3T>G (n.299-3T>G) c.263T>G (p.Ile88Arg) c.383T>G (n.383T>G) n.464T>G c.257T>G (p.Ile86Arg) c.545T>G (p.Ile182Arg) | |
| 7 | g.129839278A>G | CA369449200 | UBE2H | c.356T>C (p.Ile119Thr) c.146T>C (p.Ile49Thr) c.299-3T>C (n.299-3T>C) c.263T>C (p.Ile88Thr) c.383T>C (n.383T>C) n.464T>C c.257T>C (p.Ile86Thr) c.545T>C (p.Ile182Thr) | |
| 7 | g.129839278A>T | CA369449201 | UBE2H | c.356T>A (p.Ile119Lys) c.146T>A (p.Ile49Lys) c.299-3T>A (n.299-3T>A) c.263T>A (p.Ile88Lys) c.383T>A (n.383T>A) n.464T>A c.257T>A (p.Ile86Lys) c.545T>A (p.Ile182Lys) | |
| 7 | g.129839279T>A | CA369449204 | UBE2H | c.355A>T (p.Ile119Leu) c.145A>T (p.Ile49Leu) c.299-4A>T (n.299-4A>T) c.262A>T (p.Ile88Leu) c.382A>T (n.382A>T) n.463A>T c.256A>T (p.Ile86Leu) c.544A>T (p.Ile182Leu) | |
| 7 | g.129839279T>C | CA369449202 | UBE2H | c.355A>G (p.Ile119Val) c.145A>G (p.Ile49Val) c.299-4A>G (n.299-4A>G) c.262A>G (p.Ile88Val) c.382A>G (n.382A>G) n.463A>G c.256A>G (p.Ile86Val) c.544A>G (p.Ile182Val) | gnomAD v4 |
| 7 | g.129839279T>G | CA369449203 | UBE2H | c.355A>C (p.Ile119Leu) c.145A>C (p.Ile49Leu) c.299-4A>C (n.299-4A>C) c.262A>C (p.Ile88Leu) c.382A>C (n.382A>C) n.463A>C c.256A>C (p.Ile86Leu) c.544A>C (p.Ile182Leu) | |
| 7 | g.129839280G>A | CA457730374 | UBE2H | c.354C>T (p.Pro118=) c.144C>T (p.Pro48=) c.299-5C>T (n.299-5C>T) c.261C>T (p.Pro87=) c.381C>T (n.381C>T) n.462C>T c.255C>T (p.Pro85=) c.543C>T (p.Pro181=) | |
| 7 | g.129839280G>C | CA457730375 | UBE2H | c.354C>G (p.Pro118=) c.144C>G (p.Pro48=) c.299-5C>G (n.299-5C>G) c.261C>G (p.Pro87=) c.381C>G (n.381C>G) n.462C>G c.255C>G (p.Pro85=) c.543C>G (p.Pro181=) | |
| 7 | g.129839280G>T | CA457730376 | UBE2H | c.354C>A (p.Pro118=) c.144C>A (p.Pro48=) c.299-5C>A (n.299-5C>A) c.261C>A (p.Pro87=) c.381C>A (n.381C>A) n.462C>A c.255C>A (p.Pro85=) c.543C>A (p.Pro181=) | |
| 7 | g.129839281G>A | CA369449205 | UBE2H | c.353C>T (p.Pro118Leu) c.143C>T (p.Pro48Leu) c.299-6C>T (n.299-6C>T) c.260C>T (p.Pro87Leu) c.380C>T (n.380C>T) n.461C>T c.254C>T (p.Pro85Leu) c.542C>T (p.Pro181Leu) | |
| 7 | g.129839281G>C | CA369449206 | UBE2H | c.353C>G (p.Pro118Arg) c.143C>G (p.Pro48Arg) c.299-6C>G (n.299-6C>G) c.260C>G (p.Pro87Arg) c.380C>G (n.380C>G) n.461C>G c.254C>G (p.Pro85Arg) c.542C>G (p.Pro181Arg) | |
| 7 | g.129839281G>T | CA369449207 | UBE2H | c.353C>A (p.Pro118His) c.143C>A (p.Pro48His) c.299-6C>A (n.299-6C>A) c.260C>A (p.Pro87His) c.380C>A (n.380C>A) n.461C>A c.254C>A (p.Pro85His) c.542C>A (p.Pro181His) | |
| 7 | g.129839282G>A | CA369449208 | UBE2H | c.352C>T (p.Pro118Ser) c.142C>T (p.Pro48Ser) c.299-7C>T (n.299-7C>T) c.259C>T (p.Pro87Ser) c.379C>T (n.379C>T) n.460C>T c.253C>T (p.Pro85Ser) c.541C>T (p.Pro181Ser) | |
| 7 | g.129839282G>C | CA369449209 | UBE2H | c.352C>G (p.Pro118Ala) c.142C>G (p.Pro48Ala) c.299-7C>G (n.299-7C>G) c.259C>G (p.Pro87Ala) c.379C>G (n.379C>G) n.460C>G c.253C>G (p.Pro85Ala) c.541C>G (p.Pro181Ala) | |
| 7 | g.129839282G>T | CA369449210 | UBE2H | c.352C>A (p.Pro118Thr) c.142C>A (p.Pro48Thr) c.299-7C>A (n.299-7C>A) c.259C>A (p.Pro87Thr) c.379C>A (n.379C>A) n.460C>A c.253C>A (p.Pro85Thr) c.541C>A (p.Pro181Thr) | |
| 7 | g.129839283G>A | CA457730377 | UBE2H | c.351C>T (p.Asn117=) c.141C>T (p.Asn47=) c.299-8C>T (n.299-8C>T) c.258C>T (p.Asn86=) c.378C>T (n.378C>T) n.459C>T c.252C>T (p.Asn84=) c.540C>T (p.Asn180=) | COSMIC |
| 7 | g.129839283G>C | CA369449211 | UBE2H | c.351C>G (p.Asn117Lys) c.141C>G (p.Asn47Lys) c.299-8C>G (n.299-8C>G) c.258C>G (p.Asn86Lys) c.378C>G (n.378C>G) n.459C>G c.252C>G (p.Asn84Lys) c.540C>G (p.Asn180Lys) | |
| 7 | g.129839283G>T | CA369449212 | UBE2H | c.351C>A (p.Asn117Lys) c.141C>A (p.Asn47Lys) c.299-8C>A (n.299-8C>A) c.258C>A (p.Asn86Lys) c.378C>A (n.378C>A) n.459C>A c.252C>A (p.Asn84Lys) c.540C>A (p.Asn180Lys) | |
| 7 | g.129839284T>A | CA369449213 | UBE2H | c.350A>T (p.Asn117Ile) c.140A>T (p.Asn47Ile) c.299-9A>T (n.299-9A>T) c.257A>T (p.Asn86Ile) c.377A>T (n.377A>T) n.458A>T c.251A>T (p.Asn84Ile) c.539A>T (p.Asn180Ile) | |
| 7 | g.129839284T>C | CA369449214 | UBE2H | c.350A>G (p.Asn117Ser) c.140A>G (p.Asn47Ser) c.299-9A>G (n.299-9A>G) c.257A>G (p.Asn86Ser) c.377A>G (n.377A>G) n.458A>G c.251A>G (p.Asn84Ser) c.539A>G (p.Asn180Ser) | COSMIC |
| 7 | g.129839284T>G | CA369449215 | UBE2H | c.350A>C (p.Asn117Thr) c.140A>C (p.Asn47Thr) c.299-9A>C (n.299-9A>C) c.257A>C (p.Asn86Thr) c.377A>C (n.377A>C) n.458A>C c.251A>C (p.Asn84Thr) c.539A>C (p.Asn180Thr) | |
| 7 | g.129839285T>A | CA369449218 | UBE2H | c.349A>T (p.Asn117Tyr) c.139A>T (p.Asn47Tyr) c.299-10A>T (n.299-10A>T) c.256A>T (p.Asn86Tyr) c.376A>T (n.376A>T) n.457A>T c.250A>T (p.Asn84Tyr) c.538A>T (p.Asn180Tyr) | |
| 7 | g.129839285T>C | CA369449217 | UBE2H | c.349A>G (p.Asn117Asp) c.139A>G (p.Asn47Asp) c.299-10A>G (n.299-10A>G) c.256A>G (p.Asn86Asp) c.376A>G (n.376A>G) n.457A>G c.250A>G (p.Asn84Asp) c.538A>G (p.Asn180Asp) | |
| 7 | g.129839285T>G | CA369449216 | UBE2H | c.349A>C (p.Asn117His) c.139A>C (p.Asn47His) c.299-10A>C (n.299-10A>C) c.256A>C (p.Asn86His) c.376A>C (n.376A>C) n.457A>C c.250A>C (p.Asn84His) c.538A>C (p.Asn180His) | |
| 7 | g.129839286A= | CA1743017372 | UBE2H | c.348T= (p.Pro116=) c.138T= (p.Pro46=) c.299-11T= (n.299-11T=) c.255T= (p.Pro85=) c.375T= (n.375T=) n.456T= c.249T= (p.Pro83=) c.537T= (p.Pro179=) | |
| 7 | g.129839286A>C | CA4481483 | UBE2H | c.348T>G (p.Pro116=) c.138T>G (p.Pro46=) c.299-11T>G (n.299-11T>G) c.255T>G (p.Pro85=) c.375T>G (n.375T>G) n.456T>G c.249T>G (p.Pro83=) c.537T>G (p.Pro179=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129839286A>G | CA457730378 | UBE2H | c.348T>C (p.Pro116=) c.138T>C (p.Pro46=) c.299-11T>C (n.299-11T>C) c.255T>C (p.Pro85=) c.375T>C (n.375T>C) n.456T>C c.249T>C (p.Pro83=) c.537T>C (p.Pro179=) | |
| 7 | g.129839286A>T | CA457730379 | UBE2H | c.348T>A (p.Pro116=) c.138T>A (p.Pro46=) c.299-11T>A (n.299-11T>A) c.255T>A (p.Pro85=) c.375T>A (n.375T>A) n.456T>A c.249T>A (p.Pro83=) c.537T>A (p.Pro179=) | |
| 7 | g.129839287G>A | CA369449219 | UBE2H | c.347C>T (p.Pro116Leu) c.137C>T (p.Pro46Leu) c.299-12C>T (n.299-12C>T) c.254C>T (p.Pro85Leu) c.374C>T (n.374C>T) n.455C>T c.248C>T (p.Pro83Leu) c.536C>T (p.Pro179Leu) | |
| 7 | g.129839287G>C | CA369449220 | UBE2H | c.347C>G (p.Pro116Arg) c.137C>G (p.Pro46Arg) c.299-12C>G (n.299-12C>G) c.254C>G (p.Pro85Arg) c.374C>G (n.374C>G) n.455C>G c.248C>G (p.Pro83Arg) c.536C>G (p.Pro179Arg) | |
| 7 | g.129839287G>T | CA369449221 | UBE2H | c.347C>A (p.Pro116His) c.137C>A (p.Pro46His) c.299-12C>A (n.299-12C>A) c.254C>A (p.Pro85His) c.374C>A (n.374C>A) n.455C>A c.248C>A (p.Pro83His) c.536C>A (p.Pro179His) | |
| 7 | g.129839287_129839288insCCGGCGCTCCTCTGCGCCGCGC | CA1107135202 | UBE2H | c.346_347insGCGCGGCGCAGAGGAGCGCCGG (p.Pro116ArgfsTer9) c.136_137insGCGCGGCGCAGAGGAGCGCCGG (p.Pro46ArgfsTer9) c.299-13_299-12insGCGCGGCGCAGAGGAGCGCCGG (n.299-13_299-12insGCGCGGCGCAGAGGAGCGCCGG) c.253_254insGCGCGGCGCAGAGGAGCGCCGG (p.Pro85ArgfsTer9) c.373_374insGCGCGGCGCAGAGGAGCGCCGG (n.373_374insGCGCGGCGCAGAGGAGCGCCGG) n.454_455insGCGCGGCGCAGAGGAGCGCCGG c.247_248insGCGCGGCGCAGAGGAGCGCCGG (p.Pro83ArgfsTer9) c.535_536insGCGCGGCGCAGAGGAGCGCCGG (p.Pro179ArgfsTer9) | gnomAD v3 gnomAD v4 |
| 7 | g.129839288G>A | CA369449222 | UBE2H | c.346C>T (p.Pro116Ser) c.136C>T (p.Pro46Ser) c.299-13C>T (n.299-13C>T) c.253C>T (p.Pro85Ser) c.373C>T (n.373C>T) n.454C>T c.247C>T (p.Pro83Ser) c.535C>T (p.Pro179Ser) | |
| 7 | g.129839288G>C | CA369449223 | UBE2H | c.346C>G (p.Pro116Ala) c.136C>G (p.Pro46Ala) c.299-13C>G (n.299-13C>G) c.253C>G (p.Pro85Ala) c.373C>G (n.373C>G) n.454C>G c.247C>G (p.Pro83Ala) c.535C>G (p.Pro179Ala) | |
| 7 | g.129839288G>T | CA369449224 | UBE2H | c.346C>A (p.Pro116Thr) c.136C>A (p.Pro46Thr) c.299-13C>A (n.299-13C>A) c.253C>A (p.Pro85Thr) c.373C>A (n.373C>A) n.454C>A c.247C>A (p.Pro83Thr) c.535C>A (p.Pro179Thr) | |
| 7 | g.129839289A= | CA1743017377 | UBE2H | c.345T= (p.Tyr115=) c.135T= (p.Tyr45=) c.299-14T= (n.299-14T=) c.252T= (p.Tyr84=) c.372T= (n.372T=) n.453T= c.246T= (p.Tyr82=) c.534T= (p.Tyr178=) | |
| 7 | g.129839289A>C | CA369449225 | UBE2H | c.345T>G (p.Tyr115Ter) c.135T>G (p.Tyr45Ter) c.299-14T>G (n.299-14T>G) c.252T>G (p.Tyr84Ter) c.372T>G (n.372T>G) n.453T>G c.246T>G (p.Tyr82Ter) c.534T>G (p.Tyr178Ter) | |
| 7 | g.129839289A>G | CA457730380 | UBE2H | c.345T>C (p.Tyr115=) c.135T>C (p.Tyr45=) c.299-14T>C (n.299-14T>C) c.252T>C (p.Tyr84=) c.372T>C (n.372T>C) n.453T>C c.246T>C (p.Tyr82=) c.534T>C (p.Tyr178=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.129839289A>T | CA369449226 | UBE2H | c.345T>A (p.Tyr115Ter) c.135T>A (p.Tyr45Ter) c.299-14T>A (n.299-14T>A) c.252T>A (p.Tyr84Ter) c.372T>A (n.372T>A) n.453T>A c.246T>A (p.Tyr82Ter) c.534T>A (p.Tyr178Ter) | |
| 7 | g.129839290T>A | CA369449227 | UBE2H | c.344A>T (p.Tyr115Phe) c.134A>T (p.Tyr45Phe) c.299-15A>T (n.299-15A>T) c.251A>T (p.Tyr84Phe) c.371A>T (n.371A>T) n.452A>T c.245A>T (p.Tyr82Phe) c.533A>T (p.Tyr178Phe) | COSMIC |
| 7 | g.129839290T>C | CA369449228 | UBE2H | c.344A>G (p.Tyr115Cys) c.134A>G (p.Tyr45Cys) c.299-15A>G (n.299-15A>G) c.251A>G (p.Tyr84Cys) c.371A>G (n.371A>G) n.452A>G c.245A>G (p.Tyr82Cys) c.533A>G (p.Tyr178Cys) | gnomAD v4 |
| 7 | g.129839290T>G | CA369449229 | UBE2H | c.344A>C (p.Tyr115Ser) c.134A>C (p.Tyr45Ser) c.299-15A>C (n.299-15A>C) c.251A>C (p.Tyr84Ser) c.371A>C (n.371A>C) n.452A>C c.245A>C (p.Tyr82Ser) c.533A>C (p.Tyr178Ser) | |
| 7 | g.129839291A>C | CA369449231 | UBE2H | c.343T>G (p.Tyr115Asp) c.133T>G (p.Tyr45Asp) c.299-16T>G (n.299-16T>G) c.250T>G (p.Tyr84Asp) c.370T>G (n.370T>G) n.451T>G c.244T>G (p.Tyr82Asp) c.532T>G (p.Tyr178Asp) | |
| 7 | g.129839291A>G | CA369449232 | UBE2H | c.343T>C (p.Tyr115His) c.133T>C (p.Tyr45His) c.299-16T>C (n.299-16T>C) c.250T>C (p.Tyr84His) c.370T>C (n.370T>C) n.451T>C c.244T>C (p.Tyr82His) c.532T>C (p.Tyr178His) | |
| 7 | g.129839291A>T | CA369449230 | UBE2H | c.343T>A (p.Tyr115Asn) c.133T>A (p.Tyr45Asn) c.299-16T>A (n.299-16T>A) c.250T>A (p.Tyr84Asn) c.370T>A (n.370T>A) n.451T>A c.244T>A (p.Tyr82Asn) c.532T>A (p.Tyr178Asn) | |
| 7 | g.129839292G>A | CA457730381 | UBE2H | c.342C>T (p.Ala114=) c.132C>T (p.Ala44=) c.299-17C>T (n.299-17C>T) c.249C>T (p.Ala83=) c.369C>T (n.369C>T) n.450C>T c.243C>T (p.Ala81=) c.531C>T (p.Ala177=) | gnomAD v4 |
| 7 | g.129839292G>C | CA457730382 | UBE2H | c.342C>G (p.Ala114=) c.132C>G (p.Ala44=) c.299-17C>G (n.299-17C>G) c.249C>G (p.Ala83=) c.369C>G (n.369C>G) n.450C>G c.243C>G (p.Ala81=) c.531C>G (p.Ala177=) | |
| 7 | g.129839292G>T | CA457730383 | UBE2H | c.342C>A (p.Ala114=) c.132C>A (p.Ala44=) c.299-17C>A (n.299-17C>A) c.249C>A (p.Ala83=) c.369C>A (n.369C>A) n.450C>A c.243C>A (p.Ala81=) c.531C>A (p.Ala177=) | |
| 7 | g.129839293G>A | CA369449233 | UBE2H | c.341C>T (p.Ala114Val) c.131C>T (p.Ala44Val) c.299-18C>T (n.299-18C>T) c.248C>T (p.Ala83Val) c.368C>T (n.368C>T) n.449C>T c.242C>T (p.Ala81Val) c.530C>T (p.Ala177Val) | |
| 7 | g.129839293G>C | CA369449234 | UBE2H | c.341C>G (p.Ala114Gly) c.131C>G (p.Ala44Gly) c.299-18C>G (n.299-18C>G) c.248C>G (p.Ala83Gly) c.368C>G (n.368C>G) n.449C>G c.242C>G (p.Ala81Gly) c.530C>G (p.Ala177Gly) | |
| 7 | g.129839293G>T | CA369449235 | UBE2H | c.341C>A (p.Ala114Asp) c.131C>A (p.Ala44Asp) c.299-18C>A (n.299-18C>A) c.248C>A (p.Ala83Asp) c.368C>A (n.368C>A) n.449C>A c.242C>A (p.Ala81Asp) c.530C>A (p.Ala177Asp) | |
| 7 | g.129839294C>A | CA369449236 | UBE2H | c.340G>T (p.Ala114Ser) c.130G>T (p.Ala44Ser) c.299-19G>T (n.299-19G>T) c.247G>T (p.Ala83Ser) c.367G>T (n.367G>T) n.448G>T c.241G>T (p.Ala81Ser) c.529G>T (p.Ala177Ser) | |
| 7 | g.129839294C>G | CA369449237 | UBE2H | c.340G>C (p.Ala114Pro) c.130G>C (p.Ala44Pro) c.299-19G>C (n.299-19G>C) c.247G>C (p.Ala83Pro) c.367G>C (n.367G>C) n.448G>C c.241G>C (p.Ala81Pro) c.529G>C (p.Ala177Pro) | |
| 7 | g.129839294C>T | CA369449238 | UBE2H | c.340G>A (p.Ala114Thr) c.130G>A (p.Ala44Thr) c.299-19G>A (n.299-19G>A) c.247G>A (p.Ala83Thr) c.367G>A (n.367G>A) n.448G>A c.241G>A (p.Ala81Thr) c.529G>A (p.Ala177Thr) | gnomAD v4 |
| 7 | g.129839295C>A | CA369449239 | UBE2H | c.339G>T (p.Leu113Phe) c.129G>T (p.Leu43Phe) c.299-20G>T (n.299-20G>T) c.246G>T (p.Leu82Phe) c.366G>T (n.366G>T) n.447G>T c.240G>T (p.Leu80Phe) c.528G>T (p.Leu176Phe) | |
| 7 | g.129839295C>G | CA369449240 | UBE2H | c.339G>C (p.Leu113Phe) c.129G>C (p.Leu43Phe) c.299-20G>C (n.299-20G>C) c.246G>C (p.Leu82Phe) c.366G>C (n.366G>C) n.447G>C c.240G>C (p.Leu80Phe) c.528G>C (p.Leu176Phe) | |
| 7 | g.129839295C>T | CA457730384 | UBE2H | c.339G>A (p.Leu113=) c.129G>A (p.Leu43=) c.299-20G>A (n.299-20G>A) c.246G>A (p.Leu82=) c.366G>A (n.366G>A) n.447G>A c.240G>A (p.Leu80=) c.528G>A (p.Leu176=) | |
| 7 | g.129839296A>C | CA369449241 | UBE2H | c.338T>G (p.Leu113Trp) c.128T>G (p.Leu43Trp) c.299-21T>G (n.299-21T>G) c.245T>G (p.Leu82Trp) c.365T>G (n.365T>G) n.446T>G c.239T>G (p.Leu80Trp) c.527T>G (p.Leu176Trp) | |
| 7 | g.129839296A>G | CA369449242 | UBE2H | c.338T>C (p.Leu113Ser) c.128T>C (p.Leu43Ser) c.299-21T>C (n.299-21T>C) c.245T>C (p.Leu82Ser) c.365T>C (n.365T>C) n.446T>C c.239T>C (p.Leu80Ser) c.527T>C (p.Leu176Ser) | |
| 7 | g.129839296A>T | CA369449243 | UBE2H | c.338T>A (p.Leu113Ter) c.128T>A (p.Leu43Ter) c.299-21T>A (n.299-21T>A) c.245T>A (p.Leu82Ter) c.365T>A (n.365T>A) n.446T>A c.239T>A (p.Leu80Ter) c.527T>A (p.Leu176Ter) | |
| 7 | g.129839297A= | CA1743017381 | UBE2H | c.337T= (p.Leu113=) c.127T= (p.Leu43=) c.299-22T= (n.299-22T=) c.244T= (p.Leu82=) c.364T= (n.364T=) n.445T= c.238T= (p.Leu80=) c.526T= (p.Leu176=) | |
| 7 | g.129839297A>C | CA369449244 | UBE2H | c.337T>G (p.Leu113Val) c.127T>G (p.Leu43Val) c.299-22T>G (n.299-22T>G) c.244T>G (p.Leu82Val) c.364T>G (n.364T>G) n.445T>G c.238T>G (p.Leu80Val) c.526T>G (p.Leu176Val) | |
| 7 | g.129839297A>G | CA457730385 | UBE2H | c.337T>C (p.Leu113=) c.127T>C (p.Leu43=) c.299-22T>C (n.299-22T>C) c.244T>C (p.Leu82=) c.364T>C (n.364T>C) n.445T>C c.238T>C (p.Leu80=) c.526T>C (p.Leu176=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.129839297A>T | CA369449245 | UBE2H | c.337T>A (p.Leu113Met) c.127T>A (p.Leu43Met) c.299-22T>A (n.299-22T>A) c.244T>A (p.Leu82Met) c.364T>A (n.364T>A) n.445T>A c.238T>A (p.Leu80Met) c.526T>A (p.Leu176Met) | |
| 7 | g.129839298T>A | CA369449247 | UBE2H | c.336A>T (p.Leu112Phe) c.126A>T (p.Leu42Phe) c.299-23A>T (n.299-23A>T) c.243A>T (p.Leu81Phe) c.363A>T (n.363A>T) n.444A>T c.237A>T (p.Leu79Phe) c.525A>T (p.Leu175Phe) | gnomAD v4 |
| 7 | g.129839298T>C | CA4481484 | UBE2H | c.336A>G (p.Leu112=) c.126A>G (p.Leu42=) c.299-23A>G (n.299-23A>G) c.243A>G (p.Leu81=) c.363A>G (n.363A>G) n.444A>G c.237A>G (p.Leu79=) c.525A>G (p.Leu175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129839298T>G | CA369449246 | UBE2H | c.336A>C (p.Leu112Phe) c.126A>C (p.Leu42Phe) c.299-23A>C (n.299-23A>C) c.243A>C (p.Leu81Phe) c.363A>C (n.363A>C) n.444A>C c.237A>C (p.Leu79Phe) c.525A>C (p.Leu175Phe) | |
| 7 | g.129839298T= | CA1743017384 | UBE2H | c.336A= (p.Leu112=) c.126A= (p.Leu42=) c.299-23A= (n.299-23A=) c.243A= (p.Leu81=) c.363A= (n.363A=) n.444A= c.237A= (p.Leu79=) c.525A= (p.Leu175=) | |
| 7 | g.129839299A>C | CA369449248 | UBE2H | c.335T>G (p.Leu112Ter) c.125T>G (p.Leu42Ter) c.299-24T>G (n.299-24T>G) c.242T>G (p.Leu81Ter) c.362T>G (n.362T>G) n.443T>G c.236T>G (p.Leu79Ter) c.524T>G (p.Leu175Ter) | |
| 7 | g.129839299A>G | CA369449250 | UBE2H | c.335T>C (p.Leu112Ser) c.125T>C (p.Leu42Ser) c.299-24T>C (n.299-24T>C) c.242T>C (p.Leu81Ser) c.362T>C (n.362T>C) n.443T>C c.236T>C (p.Leu79Ser) c.524T>C (p.Leu175Ser) | |
| 7 | g.129839299A>T | CA369449249 | UBE2H | c.335T>A (p.Leu112Ter) c.125T>A (p.Leu42Ter) c.299-24T>A (n.299-24T>A) c.242T>A (p.Leu81Ter) c.362T>A (n.362T>A) n.443T>A c.236T>A (p.Leu79Ter) c.524T>A (p.Leu175Ter) | |
| 7 | g.129839300A>C | CA369449251 | UBE2H | c.334T>G (p.Leu112Val) c.124T>G (p.Leu42Val) c.299-25T>G (n.299-25T>G) c.241T>G (p.Leu81Val) c.361T>G (n.361T>G) n.442T>G c.235T>G (p.Leu79Val) c.523T>G (p.Leu175Val) | |
| 7 | g.129839300A>G | CA457730386 | UBE2H | c.334T>C (p.Leu112=) c.124T>C (p.Leu42=) c.299-25T>C (n.299-25T>C) c.241T>C (p.Leu81=) c.361T>C (n.361T>C) n.442T>C c.235T>C (p.Leu79=) c.523T>C (p.Leu175=) | |
| 7 | g.129839300A>T | CA369449252 | UBE2H | c.334T>A (p.Leu112Ile) c.124T>A (p.Leu42Ile) c.299-25T>A (n.299-25T>A) c.241T>A (p.Leu81Ile) c.361T>A (n.361T>A) n.442T>A c.235T>A (p.Leu79Ile) c.523T>A (p.Leu175Ile) | |
| 7 | g.129839301C>A | CA369449253 | UBE2H | c.333G>T (p.Gln111His) c.123G>T (p.Gln41His) c.299-26G>T (n.299-26G>T) c.240G>T (p.Gln80His) c.360G>T (n.360G>T) n.441G>T c.234G>T (p.Gln78His) c.522G>T (p.Gln174His) | |
| 7 | g.129839301C>G | CA369449254 | UBE2H | c.333G>C (p.Gln111His) c.123G>C (p.Gln41His) c.299-26G>C (n.299-26G>C) c.240G>C (p.Gln80His) c.360G>C (n.360G>C) n.441G>C c.234G>C (p.Gln78His) c.522G>C (p.Gln174His) | |
| 7 | g.129839301C>T | CA457730387 | UBE2H | c.333G>A (p.Gln111=) c.123G>A (p.Gln41=) c.299-26G>A (n.299-26G>A) c.240G>A (p.Gln80=) c.360G>A (n.360G>A) n.441G>A c.234G>A (p.Gln78=) c.522G>A (p.Gln174=) | gnomAD v4 |
| 7 | g.129839302T>A | CA369449255 | UBE2H | c.332A>T (p.Gln111Leu) c.122A>T (p.Gln41Leu) c.299-27A>T (n.299-27A>T) c.239A>T (p.Gln80Leu) c.359A>T (n.359A>T) n.440A>T c.233A>T (p.Gln78Leu) c.521A>T (p.Gln174Leu) | |
| 7 | g.129839302T>C | CA369449256 | UBE2H | c.332A>G (p.Gln111Arg) c.122A>G (p.Gln41Arg) c.299-27A>G (n.299-27A>G) c.239A>G (p.Gln80Arg) c.359A>G (n.359A>G) n.440A>G c.233A>G (p.Gln78Arg) c.521A>G (p.Gln174Arg) | |
| 7 | g.129839302T>G | CA369449257 | UBE2H | c.332A>C (p.Gln111Pro) c.122A>C (p.Gln41Pro) c.299-27A>C (n.299-27A>C) c.239A>C (p.Gln80Pro) c.359A>C (n.359A>C) n.440A>C c.233A>C (p.Gln78Pro) c.521A>C (p.Gln174Pro) | |
| 7 | g.129839303G>A | CA369449258 | UBE2H | c.331C>T (p.Gln111Ter) c.121C>T (p.Gln41Ter) c.299-28C>T (n.299-28C>T) c.238C>T (p.Gln80Ter) c.358C>T (n.358C>T) n.439C>T c.232C>T (p.Gln78Ter) c.520C>T (p.Gln174Ter) | |
| 7 | g.129839303G>C | CA369449259 | UBE2H | c.331C>G (p.Gln111Glu) c.121C>G (p.Gln41Glu) c.299-28C>G (n.299-28C>G) c.238C>G (p.Gln80Glu) c.358C>G (n.358C>G) n.439C>G c.232C>G (p.Gln78Glu) c.520C>G (p.Gln174Glu) | |
| 7 | g.129839303G>T | CA369449260 | UBE2H | c.331C>A (p.Gln111Lys) c.121C>A (p.Gln41Lys) c.299-28C>A (n.299-28C>A) c.238C>A (p.Gln80Lys) c.358C>A (n.358C>A) n.439C>A c.232C>A (p.Gln78Lys) c.520C>A (p.Gln174Lys) | |
| 7 | g.129839304A= | CA1743017387 | UBE2H | c.330T= (p.Pro110=) c.120T= (p.Pro40=) c.299-29T= (n.299-29T=) c.237T= (p.Pro79=) c.357T= (n.357T=) n.438T= c.231T= (p.Pro77=) c.519T= (p.Pro173=) | |
| 7 | g.129839304A>C | CA457730388 | UBE2H | c.330T>G (p.Pro110=) c.120T>G (p.Pro40=) c.299-29T>G (n.299-29T>G) c.237T>G (p.Pro79=) c.357T>G (n.357T>G) n.438T>G c.231T>G (p.Pro77=) c.519T>G (p.Pro173=) | |
| 7 | g.129839304A>G | CA166840083 | UBE2H | c.330T>C (p.Pro110=) c.120T>C (p.Pro40=) c.299-29T>C (n.299-29T>C) c.237T>C (p.Pro79=) c.357T>C (n.357T>C) n.438T>C c.231T>C (p.Pro77=) c.519T>C (p.Pro173=) | dbSNP |
| 7 | g.129839304A>T | CA457730389 | UBE2H | c.330T>A (p.Pro110=) c.120T>A (p.Pro40=) c.299-29T>A (n.299-29T>A) c.237T>A (p.Pro79=) c.357T>A (n.357T>A) n.438T>A c.231T>A (p.Pro77=) c.519T>A (p.Pro173=) | |
| 7 | g.129839305G>A | CA369449261 | UBE2H | c.329C>T (p.Pro110Leu) c.119C>T (p.Pro40Leu) c.299-30C>T (n.299-30C>T) c.236C>T (p.Pro79Leu) c.356C>T (n.356C>T) n.437C>T c.230C>T (p.Pro77Leu) c.518C>T (p.Pro173Leu) | |
| 7 | g.129839305G>C | CA369449262 | UBE2H | c.329C>G (p.Pro110Arg) c.119C>G (p.Pro40Arg) c.299-30C>G (n.299-30C>G) c.236C>G (p.Pro79Arg) c.356C>G (n.356C>G) n.437C>G c.230C>G (p.Pro77Arg) c.518C>G (p.Pro173Arg) | |
| 7 | g.129839305G>T | CA369449263 | UBE2H | c.329C>A (p.Pro110His) c.119C>A (p.Pro40His) c.299-30C>A (n.299-30C>A) c.236C>A (p.Pro79His) c.356C>A (n.356C>A) n.437C>A c.230C>A (p.Pro77His) c.518C>A (p.Pro173His) | |
| 7 | g.129839306G>A | CA369449266 | UBE2H | c.328C>T (p.Pro110Ser) c.118C>T (p.Pro40Ser) c.299-31C>T (n.299-31C>T) c.235C>T (p.Pro79Ser) c.355C>T (n.355C>T) n.436C>T c.229C>T (p.Pro77Ser) c.517C>T (p.Pro173Ser) | |
| 7 | g.129839306G>C | CA369449265 | UBE2H | c.328C>G (p.Pro110Ala) c.118C>G (p.Pro40Ala) c.299-31C>G (n.299-31C>G) c.235C>G (p.Pro79Ala) c.355C>G (n.355C>G) n.436C>G c.229C>G (p.Pro77Ala) c.517C>G (p.Pro173Ala) | |
| 7 | g.129839306G>T | CA369449264 | UBE2H | c.328C>A (p.Pro110Thr) c.118C>A (p.Pro40Thr) c.299-31C>A (n.299-31C>A) c.235C>A (p.Pro79Thr) c.355C>A (n.355C>A) n.436C>A c.229C>A (p.Pro77Thr) c.517C>A (p.Pro173Thr) | |
| 7 | g.129839307C>A | CA457730390 | UBE2H | c.327G>T (p.Leu109=) c.117G>T (p.Leu39=) c.299-32G>T (n.299-32G>T) c.234G>T (p.Leu78=) c.354G>T (n.354G>T) n.435G>T c.228G>T (p.Leu76=) c.516G>T (p.Leu172=) | |
| 7 | g.129839307C>G | CA457730391 | UBE2H | c.327G>C (p.Leu109=) c.117G>C (p.Leu39=) c.299-32G>C (n.299-32G>C) c.234G>C (p.Leu78=) c.354G>C (n.354G>C) n.435G>C c.228G>C (p.Leu76=) c.516G>C (p.Leu172=) | |
| 7 | g.129839307C>T | CA457730392 | UBE2H | c.327G>A (p.Leu109=) c.117G>A (p.Leu39=) c.299-32G>A (n.299-32G>A) c.234G>A (p.Leu78=) c.354G>A (n.354G>A) n.435G>A c.228G>A (p.Leu76=) c.516G>A (p.Leu172=) | gnomAD v4 |