| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.120632027_120635038del | CA2582342871 | HGD | c.1007-1709_1188+1121del c.286-1709_467+1121del c.782-1709_963+1121del c.584-1709_765+1121del | ClinVar |
| 3 | g.120633273T>A | CA354072913 | HGD | c.1062A>T (p.Gln354His) n.402A>T c.341A>T (n.341A>T) c.837A>T (p.Gln279His) c.639A>T (p.Gln213His) | |
| 3 | g.120633273T>C | CA435226123 | HGD | c.1062A>G (p.Gln354=) n.402A>G c.341A>G (n.341A>G) c.837A>G (p.Gln279=) c.639A>G (p.Gln213=) | |
| 3 | g.120633273T>G | CA354072914 | HGD | c.1062A>C (p.Gln354His) n.402A>C c.341A>C (n.341A>C) c.837A>C (p.Gln279His) c.639A>C (p.Gln213His) | |
| 3 | g.120633274T>A | CA354072915 | HGD | c.1061A>T (p.Gln354Leu) n.401A>T c.340A>T (n.340A>T) c.836A>T (p.Gln279Leu) c.638A>T (p.Gln213Leu) | |
| 3 | g.120633274T>C | CA354072916 | HGD | c.1061A>G (p.Gln354Arg) n.401A>G c.340A>G (n.340A>G) c.836A>G (p.Gln279Arg) c.638A>G (p.Gln213Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.120633274T>G | CA354072917 | HGD | c.1061A>C (p.Gln354Pro) n.401A>C c.340A>C (n.340A>C) c.836A>C (p.Gln279Pro) c.638A>C (p.Gln213Pro) | ClinVar gnomAD v4 |
| 3 | g.120633274T= | CA1397090751 | HGD | c.1061A= (p.Gln354=) n.401A= c.340A= (n.340A=) c.836A= (p.Gln279=) c.638A= (p.Gln213=) | |
| 3 | g.120633275G>A | CA2559976 | HGD | c.1060C>T (p.Gln354Ter) n.400C>T c.339C>T (n.339C>T) c.835C>T (p.Gln279Ter) c.637C>T (p.Gln213Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.120633275G>C | CA354072918 | HGD | c.1060C>G (p.Gln354Glu) n.400C>G c.339C>G (n.339C>G) c.835C>G (p.Gln279Glu) c.637C>G (p.Gln213Glu) | COSMIC |
| 3 | g.120633275G= | CA1397090752 | HGD | c.1060C= (p.Gln354=) n.400C= c.339C= (n.339C=) c.835C= (p.Gln279=) c.637C= (p.Gln213=) | |
| 3 | g.120633275G>T | CA354072919 | HGD | c.1060C>A (p.Gln354Lys) n.400C>A c.339C>A (n.339C>A) c.835C>A (p.Gln279Lys) c.637C>A (p.Gln213Lys) | |
| 3 | g.120633276C>A | CA354072920 | HGD | c.1059G>T (p.Lys353Asn) n.399G>T c.338G>T (n.338G>T) c.834G>T (p.Lys278Asn) c.636G>T (p.Lys212Asn) | |
| 3 | g.120633276C>G | CA354072921 | HGD | c.1059G>C (p.Lys353Asn) n.399G>C c.338G>C (n.338G>C) c.834G>C (p.Lys278Asn) c.636G>C (p.Lys212Asn) | |
| 3 | g.120633276C>T | CA435226141 | HGD | c.1059G>A (p.Lys353=) n.399G>A c.338G>A (n.338G>A) c.834G>A (p.Lys278=) c.636G>A (p.Lys212=) | COSMIC |
| 3 | g.120633277T>A | CA354072924 | HGD | c.1058A>T (p.Lys353Met) n.398A>T c.337A>T (n.337A>T) c.833A>T (p.Lys278Met) c.635A>T (p.Lys212Met) | |
| 3 | g.120633277T>C | CA354072923 | HGD | c.1058A>G (p.Lys353Arg) n.398A>G c.337A>G (n.337A>G) c.833A>G (p.Lys278Arg) c.635A>G (p.Lys212Arg) | |
| 3 | g.120633277T>G | CA354072922 | HGD | c.1058A>C (p.Lys353Thr) n.398A>C c.337A>C (n.337A>C) c.833A>C (p.Lys278Thr) c.635A>C (p.Lys212Thr) | |
| 3 | g.120633278T>A | CA354072925 | HGD | c.1057A>T (p.Lys353Ter) n.397A>T c.336A>T (n.336A>T) c.832A>T (p.Lys278Ter) c.634A>T (p.Lys212Ter) | |
| 3 | g.120633278T>C | CA354072926 | HGD | c.1057A>G (p.Lys353Glu) n.397A>G c.336A>G (n.336A>G) c.832A>G (p.Lys278Glu) c.634A>G (p.Lys212Glu) | |
| 3 | g.120633278T>G | CA354072927 | HGD | c.1057A>C (p.Lys353Gln) n.397A>C c.336A>C (n.336A>C) c.832A>C (p.Lys278Gln) c.634A>C (p.Lys212Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.120633278T= | CA1397090753 | HGD | c.1057A= (p.Lys353=) n.397A= c.336A= (n.336A=) c.832A= (p.Lys278=) c.634A= (p.Lys212=) | |
| 3 | g.120633279T>A | CA435226153 | HGD | c.1056A>T (p.Ala352=) n.396A>T c.335A>T (n.335A>T) c.831A>T (p.Ala277=) c.633A>T (p.Ala211=) | |
| 3 | g.120633279T>C | CA435226154 | HGD | c.1056A>G (p.Ala352=) n.396A>G c.335A>G (n.335A>G) c.831A>G (p.Ala277=) c.633A>G (p.Ala211=) | |
| 3 | g.120633279T>G | CA435226156 | HGD | c.1056A>C (p.Ala352=) n.396A>C c.335A>C (n.335A>C) c.831A>C (p.Ala277=) c.633A>C (p.Ala211=) | |
| 3 | g.120633280G>A | CA354072928 | HGD | c.1055C>T (p.Ala352Val) n.395C>T c.334C>T (n.334C>T) c.830C>T (p.Ala277Val) c.632C>T (p.Ala211Val) | |
| 3 | g.120633280G>C | CA354072929 | HGD | c.1055C>G (p.Ala352Gly) n.395C>G c.334C>G (n.334C>G) c.830C>G (p.Ala277Gly) c.632C>G (p.Ala211Gly) | |
| 3 | g.120633280G>T | CA354072930 | HGD | c.1055C>A (p.Ala352Glu) n.395C>A c.334C>A (n.334C>A) c.830C>A (p.Ala277Glu) c.632C>A (p.Ala211Glu) | |
| 3 | g.120633281C>A | CA354072931 | HGD | c.1054G>T (p.Ala352Ser) n.394G>T c.333G>T (n.333G>T) c.829G>T (p.Ala277Ser) c.631G>T (p.Ala211Ser) | |
| 3 | g.120633281C>G | CA354072932 | HGD | c.1054G>C (p.Ala352Pro) n.394G>C c.333G>C (n.333G>C) c.829G>C (p.Ala277Pro) c.631G>C (p.Ala211Pro) | |
| 3 | g.120633281C>T | CA354072933 | HGD | c.1054G>A (p.Ala352Thr) n.394G>A c.333G>A (n.333G>A) c.829G>A (p.Ala277Thr) c.631G>A (p.Ala211Thr) | |
| 3 | g.120633282C>A | CA354072934 | HGD | c.1053G>T (p.Glu351Asp) n.393G>T c.332G>T (n.332G>T) c.828G>T (p.Glu276Asp) c.630G>T (p.Glu210Asp) | |
| 3 | g.120633282C= | CA1397090754 | HGD | c.1053G= (p.Glu351=) n.393G= c.332G= (n.332G=) c.828G= (p.Glu276=) c.630G= (p.Glu210=) | |
| 3 | g.120633282C>G | CA354072935 | HGD | c.1053G>C (p.Glu351Asp) n.393G>C c.332G>C (n.332G>C) c.828G>C (p.Glu276Asp) c.630G>C (p.Glu210Asp) | |
| 3 | g.120633282C>T | CA435226165 | HGD | c.1053G>A (p.Glu351=) n.393G>A c.332G>A (n.332G>A) c.828G>A (p.Glu276=) c.630G>A (p.Glu210=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.120633283T>A | CA354072937 | HGD | c.1052A>T (p.Glu351Val) n.392A>T c.331A>T (n.331A>T) c.827A>T (p.Glu276Val) c.629A>T (p.Glu210Val) | |
| 3 | g.120633283T>C | CA354072938 | HGD | c.1052A>G (p.Glu351Gly) n.392A>G c.331A>G (n.331A>G) c.827A>G (p.Glu276Gly) c.629A>G (p.Glu210Gly) | |
| 3 | g.120633283T>G | CA354072936 | HGD | c.1052A>C (p.Glu351Ala) n.392A>C c.331A>C (n.331A>C) c.827A>C (p.Glu276Ala) c.629A>C (p.Glu210Ala) | |
| 3 | g.120633284C>A | CA354072939 | HGD | c.1051G>T (p.Glu351Ter) n.391G>T c.330G>T (n.330G>T) c.826G>T (p.Glu276Ter) c.628G>T (p.Glu210Ter) | |
| 3 | g.120633284C>G | CA354072940 | HGD | c.1051G>C (p.Glu351Gln) n.391G>C c.330G>C (n.330G>C) c.826G>C (p.Glu276Gln) c.628G>C (p.Glu210Gln) | |
| 3 | g.120633284C>T | CA354072941 | HGD | c.1051G>A (p.Glu351Lys) n.391G>A c.330G>A (n.330G>A) c.826G>A (p.Glu276Lys) c.628G>A (p.Glu210Lys) | |
| 3 | g.120633285A>C | CA354072942 | HGD | c.1050T>G (p.Tyr350Ter) n.390T>G c.329T>G (n.329T>G) c.825T>G (p.Tyr275Ter) c.627T>G (p.Tyr209Ter) | gnomAD v4 |
| 3 | g.120633285A>G | CA435226174 | HGD | c.1050T>C (p.Tyr350=) n.390T>C c.329T>C (n.329T>C) c.825T>C (p.Tyr275=) c.627T>C (p.Tyr209=) | |
| 3 | g.120633285A>T | CA354072943 | HGD | c.1050T>A (p.Tyr350Ter) n.390T>A c.329T>A (n.329T>A) c.825T>A (p.Tyr275Ter) c.627T>A (p.Tyr209Ter) | |
| 3 | g.120633286T>A | CA354072946 | HGD | c.1049A>T (p.Tyr350Phe) n.389A>T c.328A>T (n.328A>T) c.824A>T (p.Tyr275Phe) c.626A>T (p.Tyr209Phe) | |
| 3 | g.120633286T>C | CA354072944 | HGD | c.1049A>G (p.Tyr350Cys) n.389A>G c.328A>G (n.328A>G) c.824A>G (p.Tyr275Cys) c.626A>G (p.Tyr209Cys) | ClinVar |
| 3 | g.120633286T>G | CA354072945 | HGD | c.1049A>C (p.Tyr350Ser) n.389A>C c.328A>C (n.328A>C) c.824A>C (p.Tyr275Ser) c.626A>C (p.Tyr209Ser) | dbSNP gnomAD v2 |
| 3 | g.120633286T= | CA1397090755 | HGD | c.1049A= (p.Tyr350=) n.389A= c.328A= (n.328A=) c.824A= (p.Tyr275=) c.626A= (p.Tyr209=) | |
| 3 | g.120633287A= | CA1397090756 | HGD | c.1048T= (p.Tyr350=) n.388T= c.327T= (n.327T=) c.823T= (p.Tyr275=) c.625T= (p.Tyr209=) | |
| 3 | g.120633287A>C | CA354072947 | HGD | c.1048T>G (p.Tyr350Asp) n.388T>G c.327T>G (n.327T>G) c.823T>G (p.Tyr275Asp) c.625T>G (p.Tyr209Asp) | gnomAD v4 |