Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.120640300_120643612del | CA2582342875 | HGD | c.774+711_879+1293del c.202+990_307+1293del c.181-1915_285+1293del c.194+711_299+1293del c.550-1915_654+1293del c.351+711_456+1293del | ClinVar |
3 | g.120641588C>A | CA354073846 | HGD | c.879+1G>T (n.879+1G>T) n.219+1G>T c.307+1G>T c.285+1G>T (n.285+1G>T) c.299+1G>T c.654+1G>T (n.654+1G>T) c.456+1G>T (n.456+1G>T) | |
3 | g.120641588C= | CA1397094503 | HGD | c.879+1G= (n.879+1G=) n.219+1G= c.307+1G= c.285+1G= (n.285+1G=) c.299+1G= c.654+1G= (n.654+1G=) c.456+1G= (n.456+1G=) | |
3 | g.120641588C>G | CA354073847 | HGD | c.879+1G>C (n.879+1G>C) n.219+1G>C c.307+1G>C c.285+1G>C (n.285+1G>C) c.299+1G>C c.654+1G>C (n.654+1G>C) c.456+1G>C (n.456+1G>C) | |
3 | g.120641588C>T | CA354073848 | HGD | c.879+1G>A (n.879+1G>A) n.219+1G>A c.307+1G>A c.285+1G>A (n.285+1G>A) c.299+1G>A c.654+1G>A (n.654+1G>A) c.456+1G>A (n.456+1G>A) | ClinVar dbSNP gnomAD v4 |
3 | g.120641589T>A | CA435227558 | HGD | c.879A>T (p.Ala293=) n.219A>T c.307A>T c.285A>T (p.Ala95=) c.299A>T c.654A>T (p.Ala218=) c.456A>T (p.Ala152=) | |
3 | g.120641589T>C | CA435227557 | HGD | c.879A>G (p.Ala293=) n.219A>G c.307A>G c.285A>G (p.Ala95=) c.299A>G c.654A>G (p.Ala218=) c.456A>G (p.Ala152=) | gnomAD v4 |
3 | g.120641589T>G | CA435227556 | HGD | c.879A>C (p.Ala293=) n.219A>C c.307A>C c.285A>C (p.Ala95=) c.299A>C c.654A>C (p.Ala218=) c.456A>C (p.Ala152=) | |
3 | g.120641590G>A | CA354073850 | HGD | c.878C>T (p.Ala293Val) n.218C>T c.306C>T c.284C>T (p.Ala95Val) c.298C>T c.653C>T (p.Ala218Val) c.455C>T (p.Ala152Val) | gnomAD v4 |
3 | g.120641590G>C | CA354073849 | HGD | c.878C>G (p.Ala293Gly) n.218C>G c.306C>G c.284C>G (p.Ala95Gly) c.298C>G c.653C>G (p.Ala218Gly) c.455C>G (p.Ala152Gly) | |
3 | g.120641590G= | CA1397094504 | HGD | c.878C= (p.Ala293=) n.218C= c.306C= c.284C= (p.Ala95=) c.298C= c.653C= (p.Ala218=) c.455C= (p.Ala152=) | |
3 | g.120641590G>T | CA81783899 | HGD | c.878C>A (p.Ala293Glu) n.218C>A c.306C>A c.284C>A (p.Ala95Glu) c.298C>A c.653C>A (p.Ala218Glu) c.455C>A (p.Ala152Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120641591C>A | CA354073853 | HGD | c.877G>T (p.Ala293Ser) n.217G>T c.305G>T c.283G>T (p.Ala95Ser) c.297G>T c.652G>T (p.Ala218Ser) c.454G>T (p.Ala152Ser) | gnomAD v4 |
3 | g.120641591C>G | CA354073851 | HGD | c.877G>C (p.Ala293Pro) n.217G>C c.305G>C c.283G>C (p.Ala95Pro) c.297G>C c.652G>C (p.Ala218Pro) c.454G>C (p.Ala152Pro) | |
3 | g.120641591C>T | CA354073852 | HGD | c.877G>A (p.Ala293Thr) n.217G>A c.305G>A c.283G>A (p.Ala95Thr) c.297G>A c.652G>A (p.Ala218Thr) c.454G>A (p.Ala152Thr) | |
3 | g.120641592A= | CA1397094505 | HGD | c.876T= (p.His292=) n.216T= c.304T= c.282T= (p.His94=) c.296T= c.651T= (p.His217=) c.453T= (p.His151=) | |
3 | g.120641592A>C | CA354073854 | HGD | c.876T>G (p.His292Gln) n.216T>G c.304T>G c.282T>G (p.His94Gln) c.296T>G c.651T>G (p.His217Gln) c.453T>G (p.His151Gln) | dbSNP |
3 | g.120641592A>G | CA435227562 | HGD | c.876T>C (p.His292=) n.216T>C c.304T>C c.282T>C (p.His94=) c.296T>C c.651T>C (p.His217=) c.453T>C (p.His151=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120641592A>T | CA354073855 | HGD | c.876T>A (p.His292Gln) n.216T>A c.304T>A c.282T>A (p.His94Gln) c.296T>A c.651T>A (p.His217Gln) c.453T>A (p.His151Gln) | |
3 | g.120641593T>A | CA354073856 | HGD | c.875A>T (p.His292Leu) n.215A>T c.303A>T c.281A>T (p.His94Leu) c.295A>T c.650A>T (p.His217Leu) c.452A>T (p.His151Leu) | |
3 | g.120641593T>C | CA354073857 | HGD | c.875A>G (p.His292Arg) n.215A>G c.303A>G c.281A>G (p.His94Arg) c.295A>G c.650A>G (p.His217Arg) c.452A>G (p.His151Arg) | ClinVar gnomAD v4 |
3 | g.120641593T>G | CA354073858 | HGD | c.875A>C (p.His292Pro) n.215A>C c.303A>C c.281A>C (p.His94Pro) c.295A>C c.650A>C (p.His217Pro) c.452A>C (p.His151Pro) | |
3 | g.120641594G>A | CA354073859 | HGD | c.874C>T (p.His292Tyr) n.214C>T c.302C>T c.280C>T (p.His94Tyr) c.294C>T c.649C>T (p.His217Tyr) c.451C>T (p.His151Tyr) | |
3 | g.120641594G>C | CA354073860 | HGD | c.874C>G (p.His292Asp) n.214C>G c.302C>G c.280C>G (p.His94Asp) c.294C>G c.649C>G (p.His217Asp) c.451C>G (p.His151Asp) | |
3 | g.120641594G>T | CA354073861 | HGD | c.874C>A (p.His292Asn) n.214C>A c.302C>A c.280C>A (p.His94Asn) c.294C>A c.649C>A (p.His217Asn) c.451C>A (p.His151Asn) | |
3 | g.120641595del | CA2667171257 | HGD | c.874del (p.His292MetfsTer10) n.214del c.302del c.280del (p.His94MetfsTer7) c.294del c.649del (p.His217MetfsTer10) c.874del (p.His292MetfsTer24) c.451del (p.His151MetfsTer10) | gnomAD v4 |
3 | g.120641595G>A | CA435227567 | HGD | c.873C>T (p.Asp291=) n.213C>T c.301C>T c.279C>T (p.Asp93=) c.293C>T c.648C>T (p.Asp216=) c.450C>T (p.Asp150=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120641595G>C | CA354073862 | HGD | c.873C>G (p.Asp291Glu) n.213C>G c.301C>G c.279C>G (p.Asp93Glu) c.293C>G c.648C>G (p.Asp216Glu) c.450C>G (p.Asp150Glu) | |
3 | g.120641595G= | CA1397094506 | HGD | c.873C= (p.Asp291=) n.213C= c.301C= c.279C= (p.Asp93=) c.293C= c.648C= (p.Asp216=) c.450C= (p.Asp150=) | |
3 | g.120641595G>T | CA2560044 | HGD | c.873C>A (p.Asp291Glu) n.213C>A c.301C>A c.279C>A (p.Asp93Glu) c.293C>A c.648C>A (p.Asp216Glu) c.450C>A (p.Asp150Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120641596T>A | CA354073864 | HGD | c.872A>T (p.Asp291Val) n.212A>T c.300A>T c.278A>T (p.Asp93Val) c.292A>T c.647A>T (p.Asp216Val) c.449A>T (p.Asp150Val) | |
3 | g.120641596T>C | CA354073865 | HGD | c.872A>G (p.Asp291Gly) n.212A>G c.300A>G c.278A>G (p.Asp93Gly) c.292A>G c.647A>G (p.Asp216Gly) c.449A>G (p.Asp150Gly) | |
3 | g.120641596T>G | CA354073863 | HGD | c.872A>C (p.Asp291Ala) n.212A>C c.300A>C c.278A>C (p.Asp93Ala) c.292A>C c.647A>C (p.Asp216Ala) c.449A>C (p.Asp150Ala) | |
3 | g.120641597C>A | CA354073866 | HGD | c.871G>T (p.Asp291Tyr) n.211G>T c.299G>T c.277G>T (p.Asp93Tyr) c.291G>T c.646G>T (p.Asp216Tyr) c.448G>T (p.Asp150Tyr) | |
3 | g.120641597C>G | CA354073867 | HGD | c.871G>C (p.Asp291His) n.211G>C c.299G>C c.277G>C (p.Asp93His) c.291G>C c.646G>C (p.Asp216His) c.448G>C (p.Asp150His) | |
3 | g.120641597C>T | CA354073868 | HGD | c.871G>A (p.Asp291Asn) n.211G>A c.299G>A c.277G>A (p.Asp93Asn) c.291G>A c.646G>A (p.Asp216Asn) c.448G>A (p.Asp150Asn) | |
3 | g.120641598A>C | CA354073869 | HGD | c.870T>G (p.Phe290Leu) n.210T>G c.298T>G c.276T>G (p.Phe92Leu) c.290T>G c.645T>G (p.Phe215Leu) c.447T>G (p.Phe149Leu) | |
3 | g.120641598A>G | CA435227569 | HGD | c.870T>C (p.Phe290=) n.210T>C c.298T>C c.276T>C (p.Phe92=) c.290T>C c.645T>C (p.Phe215=) c.447T>C (p.Phe149=) | |
3 | g.120641598A>T | CA354073870 | HGD | c.870T>A (p.Phe290Leu) n.210T>A c.298T>A c.276T>A (p.Phe92Leu) c.290T>A c.645T>A (p.Phe215Leu) c.447T>A (p.Phe149Leu) | |
3 | g.120641599A>C | CA354073873 | HGD | c.869T>G (p.Phe290Cys) n.209T>G c.297T>G c.275T>G (p.Phe92Cys) c.289T>G c.644T>G (p.Phe215Cys) c.446T>G (p.Phe149Cys) | |
3 | g.120641599A>G | CA354073871 | HGD | c.869T>C (p.Phe290Ser) n.209T>C c.297T>C c.275T>C (p.Phe92Ser) c.289T>C c.644T>C (p.Phe215Ser) c.446T>C (p.Phe149Ser) | |
3 | g.120641599A>T | CA354073872 | HGD | c.869T>A (p.Phe290Tyr) n.209T>A c.297T>A c.275T>A (p.Phe92Tyr) c.289T>A c.644T>A (p.Phe215Tyr) c.446T>A (p.Phe149Tyr) | |
3 | g.120641600A>C | CA354073874 | HGD | c.868T>G (p.Phe290Val) n.208T>G c.296T>G c.274T>G (p.Phe92Val) c.288T>G c.643T>G (p.Phe215Val) c.445T>G (p.Phe149Val) | |
3 | g.120641600A>G | CA354073875 | HGD | c.868T>C (p.Phe290Leu) n.208T>C c.296T>C c.274T>C (p.Phe92Leu) c.288T>C c.643T>C (p.Phe215Leu) c.445T>C (p.Phe149Leu) | |
3 | g.120641600A>T | CA354073876 | HGD | c.868T>A (p.Phe290Ile) n.208T>A c.296T>A c.274T>A (p.Phe92Ile) c.288T>A c.643T>A (p.Phe215Ile) c.445T>A (p.Phe149Ile) | |
3 | g.120641601G>A | CA435227570 | HGD | c.867C>T (p.Ala289=) n.207C>T c.295C>T c.273C>T (p.Ala91=) c.287C>T c.642C>T (p.Ala214=) c.444C>T (p.Ala148=) | |
3 | g.120641601G>C | CA435227571 | HGD | c.867C>G (p.Ala289=) n.207C>G c.295C>G c.273C>G (p.Ala91=) c.287C>G c.642C>G (p.Ala214=) c.444C>G (p.Ala148=) | |
3 | g.120641601G>T | CA435227572 | HGD | c.867C>A (p.Ala289=) n.207C>A c.295C>A c.273C>A (p.Ala91=) c.287C>A c.642C>A (p.Ala214=) c.444C>A (p.Ala148=) | |
3 | g.120641602G>A | CA354073877 | HGD | c.866C>T (p.Ala289Val) n.206C>T c.294C>T c.272C>T (p.Ala91Val) c.286C>T c.641C>T (p.Ala214Val) c.443C>T (p.Ala148Val) | COSMIC |
3 | g.120641602G>C | CA354073878 | HGD | c.866C>G (p.Ala289Gly) n.206C>G c.294C>G c.272C>G (p.Ala91Gly) c.286C>G c.641C>G (p.Ala214Gly) c.443C>G (p.Ala148Gly) |