| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.129839198T>A | CA2684877488 | UBE2H | c.427+9A>T (n.427+9A>T) c.217+9A>T (n.217+9A>T) c.334+9A>T (n.334+9A>T) n.535+9A>T c.328+9A>T (n.328+9A>T) c.616+9A>T (n.616+9A>T) | gnomAD v4 |
| 7 | g.129839198T>G | CA4481478 | UBE2H | c.427+9A>C (n.427+9A>C) c.217+9A>C (n.217+9A>C) c.334+9A>C (n.334+9A>C) n.535+9A>C c.328+9A>C (n.328+9A>C) c.616+9A>C (n.616+9A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.129839198T= | CA1743017328 | UBE2H | c.427+9A= (n.427+9A=) c.217+9A= (n.217+9A=) c.334+9A= (n.334+9A=) n.535+9A= c.328+9A= (n.328+9A=) c.616+9A= (n.616+9A=) | |
| 7 | g.129839199C>A | CA2684877489 | UBE2H | c.427+8G>T (n.427+8G>T) c.217+8G>T (n.217+8G>T) c.334+8G>T (n.334+8G>T) n.535+8G>T c.328+8G>T (n.328+8G>T) c.616+8G>T (n.616+8G>T) | gnomAD v4 |
| 7 | g.129839200C>A | CA457730329 | UBE2H | c.427+7G>T (n.427+7G>T) c.217+7G>T (n.217+7G>T) c.334+7G>T (n.334+7G>T) n.535+7G>T c.328+7G>T (n.328+7G>T) c.616+7G>T (n.616+7G>T) | COSMIC |
| 7 | g.129839200C= | CA1743017330 | UBE2H | c.427+7G= (n.427+7G=) c.217+7G= (n.217+7G=) c.334+7G= (n.334+7G=) n.535+7G= c.328+7G= (n.328+7G=) c.616+7G= (n.616+7G=) | |
| 7 | g.129839200C>T | CA4481479 | UBE2H | c.427+7G>A (n.427+7G>A) c.217+7G>A (n.217+7G>A) c.334+7G>A (n.334+7G>A) n.535+7G>A c.328+7G>A (n.328+7G>A) c.616+7G>A (n.616+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129839202C>G | CA2684877491 | UBE2H | c.427+5G>C (n.427+5G>C) c.217+5G>C (n.217+5G>C) c.334+5G>C (n.334+5G>C) n.535+5G>C c.328+5G>C (n.328+5G>C) c.616+5G>C (n.616+5G>C) | gnomAD v4 |
| 7 | g.129839203T>A | CA2684877495 | UBE2H | c.427+4A>T (n.427+4A>T) c.217+4A>T (n.217+4A>T) c.334+4A>T (n.334+4A>T) n.535+4A>T c.328+4A>T (n.328+4A>T) c.616+4A>T (n.616+4A>T) | gnomAD v4 |
| 7 | g.129839203T>C | CA2684877497 | UBE2H | c.427+4A>G (n.427+4A>G) c.217+4A>G (n.217+4A>G) c.334+4A>G (n.334+4A>G) n.535+4A>G c.328+4A>G (n.328+4A>G) c.616+4A>G (n.616+4A>G) | gnomAD v4 |
| 7 | g.129839204del | CA2684877494 | UBE2H | c.427+4del (n.427+4del) c.217+4del (n.217+4del) c.334+4del (n.334+4del) n.535+4del c.328+4del (n.328+4del) c.616+4del (n.616+4del) | gnomAD v4 |
| 7 | g.129839204T>C | CA2684877499 | UBE2H | c.427+3A>G (n.427+3A>G) c.217+3A>G (n.217+3A>G) c.370A>G c.334+3A>G (n.334+3A>G) n.535+3A>G c.328+3A>G (n.328+3A>G) c.616+3A>G (n.616+3A>G) | gnomAD v4 |
| 7 | g.129839205A>C | CA369448986 | UBE2H | c.427+2T>G (n.427+2T>G) c.217+2T>G (n.217+2T>G) c.369T>G (p.Gly123=) c.334+2T>G (n.334+2T>G) n.535+2T>G c.328+2T>G (n.328+2T>G) c.616+2T>G (n.616+2T>G) | |
| 7 | g.129839205A>G | CA369448988 | UBE2H | c.427+2T>C (n.427+2T>C) c.217+2T>C (n.217+2T>C) c.369T>C (p.Gly123=) c.334+2T>C (n.334+2T>C) n.535+2T>C c.328+2T>C (n.328+2T>C) c.616+2T>C (n.616+2T>C) | |
| 7 | g.129839205A>T | CA369448990 | UBE2H | c.427+2T>A (n.427+2T>A) c.217+2T>A (n.217+2T>A) c.369T>A (p.Gly123=) c.334+2T>A (n.334+2T>A) n.535+2T>A c.328+2T>A (n.328+2T>A) c.616+2T>A (n.616+2T>A) | |
| 7 | g.129839206C>A | CA369448994 | UBE2H | c.427+1G>T (n.427+1G>T) c.217+1G>T (n.217+1G>T) c.368G>T (p.Gly123Val) c.334+1G>T (n.334+1G>T) n.535+1G>T c.328+1G>T (n.328+1G>T) c.616+1G>T (n.616+1G>T) | |
| 7 | g.129839206C>G | CA369448996 | UBE2H | c.427+1G>C (n.427+1G>C) c.217+1G>C (n.217+1G>C) c.368G>C (p.Gly123Ala) c.334+1G>C (n.334+1G>C) n.535+1G>C c.328+1G>C (n.328+1G>C) c.616+1G>C (n.616+1G>C) | |
| 7 | g.129839206C>T | CA369448992 | UBE2H | c.427+1G>A (n.427+1G>A) c.217+1G>A (n.217+1G>A) c.368G>A (p.Gly123Asp) c.334+1G>A (n.334+1G>A) n.535+1G>A c.328+1G>A (n.328+1G>A) c.616+1G>A (n.616+1G>A) | |
| 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) |