Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.70439117G>A | CA340839861 | CTH | c.1208G>A (p.Ser403Asn) c.1076G>A (p.Ser359Asn) c.1112G>A (p.Ser371Asn) n.483G>A c.881G>A (p.Ser294Asn) c.638G>A (p.Ser213Asn) | dbSNP gnomAD v4 |
1 | g.70439117G>C | CA340839862 | CTH | c.1208G>C (p.Ser403Thr) c.1076G>C (p.Ser359Thr) c.1112G>C (p.Ser371Thr) n.483G>C c.881G>C (p.Ser294Thr) c.638G>C (p.Ser213Thr) | gnomAD v4 |
1 | g.70439117G= | CA1139846959 | CTH | c.1208G= (p.Ser403=) c.1076G= (p.Ser359=) c.1112G= (p.Ser371=) n.483G= c.881G= (p.Ser294=) c.638G= (p.Ser213=) | |
1 | g.70439117G>T | CA115891 | CTH | c.1208G>T (p.Ser403Ile) c.1076G>T (p.Ser359Ile) c.1112G>T (p.Ser371Ile) n.483G>T c.881G>T (p.Ser294Ile) c.638G>T (p.Ser213Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.70439118T>A | CA24519569 | CTH | c.1209T>A (p.Ser403Arg) c.1077T>A (p.Ser359Arg) c.1113T>A (p.Ser371Arg) n.484T>A c.882T>A (p.Ser294Arg) c.639T>A (p.Ser213Arg) | dbSNP |
1 | g.70439118T>C | CA418367153 | CTH | c.1209T>C (p.Ser403=) c.1077T>C (p.Ser359=) c.1113T>C (p.Ser371=) n.484T>C c.882T>C (p.Ser294=) c.639T>C (p.Ser213=) | |
1 | g.70439118T>G | CA340839863 | CTH | c.1209T>G (p.Ser403Arg) c.1077T>G (p.Ser359Arg) c.1113T>G (p.Ser371Arg) n.484T>G c.882T>G (p.Ser294Arg) c.639T>G (p.Ser213Arg) | |
1 | g.70439118T= | CA1174413851 | CTH | c.1209T= (p.Ser403=) c.1077T= (p.Ser359=) c.1113T= (p.Ser371=) n.484T= c.882T= (p.Ser294=) c.639T= (p.Ser213=) | |
1 | g.70439119C>A | CA340839864 | CTH | c.1210C>A (p.His404Asn) c.1078C>A (p.His360Asn) c.1114C>A (p.His372Asn) n.485C>A c.883C>A (p.His295Asn) c.640C>A (p.His214Asn) | |
1 | g.70439119C>G | CA340839865 | CTH | c.1210C>G (p.His404Asp) c.1078C>G (p.His360Asp) c.1114C>G (p.His372Asp) n.485C>G c.883C>G (p.His295Asp) c.640C>G (p.His214Asp) | |
1 | g.70439119C>T | CA340839866 | CTH | c.1210C>T (p.His404Tyr) c.1078C>T (p.His360Tyr) c.1114C>T (p.His372Tyr) n.485C>T c.883C>T (p.His295Tyr) c.640C>T (p.His214Tyr) | gnomAD v4 |
1 | g.70439120A>C | CA340839867 | CTH | c.1211A>C (p.His404Pro) c.1079A>C (p.His360Pro) c.1115A>C (p.His372Pro) n.486A>C c.884A>C (p.His295Pro) c.641A>C (p.His214Pro) | |
1 | g.70439120A>G | CA340839868 | CTH | c.1211A>G (p.His404Arg) c.1079A>G (p.His360Arg) c.1115A>G (p.His372Arg) n.486A>G c.884A>G (p.His295Arg) c.641A>G (p.His214Arg) | |
1 | g.70439120A>T | CA340839869 | CTH | c.1211A>T (p.His404Leu) c.1079A>T (p.His360Leu) c.1115A>T (p.His372Leu) n.486A>T c.884A>T (p.His295Leu) c.641A>T (p.His214Leu) | |
1 | g.70439121C>A | CA340839870 | CTH | c.1212C>A (p.His404Gln) c.1080C>A (p.His360Gln) c.1116C>A (p.His372Gln) n.487C>A c.885C>A (p.His295Gln) c.642C>A (p.His214Gln) | |
1 | g.70439121C= | CA1174413852 | CTH | c.1212C= (p.His404=) c.1080C= (p.His360=) c.1116C= (p.His372=) n.487C= c.885C= (p.His295=) c.642C= (p.His214=) | |
1 | g.70439121C>G | CA340839871 | CTH | c.1212C>G (p.His404Gln) c.1080C>G (p.His360Gln) c.1116C>G (p.His372Gln) n.487C>G c.885C>G (p.His295Gln) c.642C>G (p.His214Gln) | |
1 | g.70439121C>T | CA418367154 | CTH | c.1212C>T (p.His404=) c.1080C>T (p.His360=) c.1116C>T (p.His372=) n.487C>T c.885C>T (p.His295=) c.642C>T (p.His214=) | dbSNP gnomAD v4 |
1 | g.70439122A>C | CA340839872 | CTH | c.1213A>C (p.Ser405Arg) c.1081A>C (p.Ser361Arg) c.1117A>C (p.Ser373Arg) n.488A>C c.886A>C (p.Ser296Arg) c.643A>C (p.Ser215Arg) | |
1 | g.70439122A>G | CA340839874 | CTH | c.1213A>G (p.Ser405Gly) c.1081A>G (p.Ser361Gly) c.1117A>G (p.Ser373Gly) n.488A>G c.886A>G (p.Ser296Gly) c.643A>G (p.Ser215Gly) | |
1 | g.70439122A>T | CA340839873 | CTH | c.1213A>T (p.Ser405Cys) c.1081A>T (p.Ser361Cys) c.1117A>T (p.Ser373Cys) n.488A>T c.886A>T (p.Ser296Cys) c.643A>T (p.Ser215Cys) | |
1 | g.70439123G>A | CA340839875 | CTH | c.1214G>A (p.Ser405Asn) c.1082G>A (p.Ser361Asn) c.1118G>A (p.Ser373Asn) n.489G>A c.887G>A (p.Ser296Asn) c.644G>A (p.Ser215Asn) | |
1 | g.70439123G>C | CA340839876 | CTH | c.1214G>C (p.Ser405Thr) c.1082G>C (p.Ser361Thr) c.1118G>C (p.Ser373Thr) n.489G>C c.887G>C (p.Ser296Thr) c.644G>C (p.Ser215Thr) | gnomAD v4 |
1 | g.70439123G>T | CA340839877 | CTH | c.1214G>T (p.Ser405Ile) c.1082G>T (p.Ser361Ile) c.1118G>T (p.Ser373Ile) n.489G>T c.887G>T (p.Ser296Ile) c.644G>T (p.Ser215Ile) | |
1 | g.70439124C>A | CA340839880 | CTH | c.1215C>A (p.Ser405Arg) c.1083C>A (p.Ser361Arg) c.1119C>A (p.Ser373Arg) n.490C>A c.888C>A (p.Ser296Arg) c.645C>A (p.Ser215Arg) | |
1 | g.70439124C>G | CA340839882 | CTH | c.1215C>G (p.Ser405Arg) c.1083C>G (p.Ser361Arg) c.1119C>G (p.Ser373Arg) n.490C>G c.888C>G (p.Ser296Arg) c.645C>G (p.Ser215Arg) | |
1 | g.70439124C>T | CA418367155 | CTH | c.1215C>T (p.Ser405=) c.1083C>T (p.Ser361=) c.1119C>T (p.Ser373=) n.490C>T c.888C>T (p.Ser296=) c.645C>T (p.Ser215=) | COSMIC |
1 | g.70439125T>A | CA340839884 | CTH | c.1216T>A (p.Ter406Lys) c.1084T>A (p.Ter362Lys) c.1120T>A (p.Ter374Lys) n.491T>A c.889T>A (p.Ter297Lys) c.646T>A (p.Ter216Lys) | |
1 | g.70439125T>C | CA340839886 | CTH | c.1216T>C (p.Ter406Gln) c.1084T>C (p.Ter362Gln) c.1120T>C (p.Ter374Gln) n.491T>C c.889T>C (p.Ter297Gln) c.646T>C (p.Ter216Gln) | gnomAD v4 |
1 | g.70439125T>G | CA340839888 | CTH | c.1216T>G (p.Ter406Glu) c.1084T>G (p.Ter362Glu) c.1120T>G (p.Ter374Glu) n.491T>G c.889T>G (p.Ter297Glu) c.646T>G (p.Ter216Glu) | |
1 | g.70439126A>C | CA340839890 | CTH | c.1217A>C (p.Ter406Ser) c.1085A>C (p.Ter362Ser) c.1121A>C (p.Ter374Ser) n.492A>C c.890A>C (p.Ter297Ser) c.647A>C (p.Ter216Ser) | |
1 | g.70439126A>G | CA340839892 | CTH | c.1217A>G (p.Ter406Trp) c.1085A>G (p.Ter362Trp) c.1121A>G (p.Ter374Trp) n.492A>G c.890A>G (p.Ter297Trp) c.647A>G (p.Ter216Trp) | |
1 | g.70439126A>T | CA340839894 | CTH | c.1217A>T (p.Ter406Leu) c.1085A>T (p.Ter362Leu) c.1121A>T (p.Ter374Leu) n.492A>T c.890A>T (p.Ter297Leu) c.647A>T (p.Ter216Leu) | |
1 | g.70439127G>A | CA418367158 | CTH | c.1218G>A (p.Ter406=) c.1086G>A (p.Ter362=) c.1122G>A (p.Ter374=) n.493G>A c.891G>A (p.Ter297=) c.648G>A (p.Ter216=) | gnomAD v4 |
1 | g.70439127G>C | CA340839895 | CTH | c.1218G>C (p.Ter406Tyr) c.1086G>C (p.Ter362Tyr) c.1122G>C (p.Ter374Tyr) n.493G>C c.891G>C (p.Ter297Tyr) c.648G>C (p.Ter216Tyr) | |
1 | g.70439127G>T | CA340839897 | CTH | c.1218G>T (p.Ter406Tyr) c.1086G>T (p.Ter362Tyr) c.1122G>T (p.Ter374Tyr) n.493G>T c.891G>T (p.Ter297Tyr) c.648G>T (p.Ter216Tyr) | |
1 | g.70439128T>G | CA2646204273 | CTH | c.*1T>G (n.*1T>G) n.494T>G | gnomAD v4 |
1 | g.70439129A>G | CA2646204274 | CTH | c.*2A>G (n.*2A>G) n.495A>G | gnomAD v4 |
1 | g.70439130T>C | CA906428 | CTH | c.*3T>C (n.*3T>C) n.496T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.70439130T= | CA1143811686 | CTH | c.*3T= (n.*3T=) n.496T= | |
1 | g.70439131T>A | CA523426611 | CTH | c.*4T>A (n.*4T>A) n.497T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.70439131T>C | CA1174413853 | CTH | c.*4T>C (n.*4T>C) n.497T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.70439131T= | CA1174413854 | CTH | c.*4T= (n.*4T=) n.497T= | |
1 | g.70439132C>A | CA2646204275 | CTH | c.*5C>A (n.*5C>A) n.498C>A | gnomAD v4 |
1 | g.70439132C= | CA1174413855 | CTH | c.*5C= (n.*5C=) n.498C= | |
1 | g.70439132C>G | CA2646204276 | CTH | c.*5C>G (n.*5C>G) n.498C>G | gnomAD v4 |
1 | g.70439132C>T | CA523426612 | CTH | c.*5C>T (n.*5C>T) n.498C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.70439133C>A | CA2646204277 | CTH | c.*6C>A (n.*6C>A) n.499C>A | gnomAD v4 |
1 | g.70439135G>C | CA2646204278 | CTH | c.*8G>C (n.*8G>C) n.501G>C | gnomAD v4 |
1 | g.70439135G>T | CA2512631249 | CTH | c.*8G>T (n.*8G>T) n.501G>T |