| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114684278C>A | CA202973 | AMPD1 | c.456G>T (p.Gln152His) c.468G>T (p.Gln156His) c.471G>T (p.Gln157His) n.133G>T c.555G>T (p.Gln185His) n.342G>T c.567G>T (p.Gln189His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114684278C= | CA1141689258 | AMPD1 | c.456G= (p.Gln152=) c.468G= (p.Gln156=) c.471G= (p.Gln157=) n.133G= c.555G= (p.Gln185=) n.342G= c.567G= (p.Gln189=) | |
| 1 | g.114684278C>G | CA341752593 | AMPD1 | c.456G>C (p.Gln152His) c.468G>C (p.Gln156His) c.471G>C (p.Gln157His) n.133G>C c.555G>C (p.Gln185His) n.342G>C c.567G>C (p.Gln189His) | |
| 1 | g.114684278C>T | CA419883507 | AMPD1 | c.456G>A (p.Gln152=) c.468G>A (p.Gln156=) c.471G>A (p.Gln157=) n.133G>A c.555G>A (p.Gln185=) n.342G>A c.567G>A (p.Gln189=) | |
| 1 | g.114684279T>A | CA341752595 | AMPD1 | c.455A>T (p.Gln152Leu) c.467A>T (p.Gln156Leu) c.470A>T (p.Gln157Leu) n.132A>T c.554A>T (p.Gln185Leu) n.341A>T c.566A>T (p.Gln189Leu) | |
| 1 | g.114684279T>C | CA341752596 | AMPD1 | c.455A>G (p.Gln152Arg) c.467A>G (p.Gln156Arg) c.470A>G (p.Gln157Arg) n.132A>G c.554A>G (p.Gln185Arg) n.341A>G c.566A>G (p.Gln189Arg) | |
| 1 | g.114684279T>G | CA341752598 | AMPD1 | c.455A>C (p.Gln152Pro) c.467A>C (p.Gln156Pro) c.470A>C (p.Gln157Pro) n.132A>C c.554A>C (p.Gln185Pro) n.341A>C c.566A>C (p.Gln189Pro) | |
| 1 | g.114684280G>A | CA341752600 | AMPD1 | c.454C>T (p.Gln152Ter) c.466C>T (p.Gln156Ter) c.469C>T (p.Gln157Ter) n.131C>T c.553C>T (p.Gln185Ter) n.340C>T c.565C>T (p.Gln189Ter) | |
| 1 | g.114684280G>C | CA341752601 | AMPD1 | c.454C>G (p.Gln152Glu) c.466C>G (p.Gln156Glu) c.469C>G (p.Gln157Glu) n.131C>G c.553C>G (p.Gln185Glu) n.340C>G c.565C>G (p.Gln189Glu) | |
| 1 | g.114684280G= | CA1190281843 | AMPD1 | c.454C= (p.Gln152=) c.466C= (p.Gln156=) c.469C= (p.Gln157=) n.131C= c.553C= (p.Gln185=) n.340C= c.565C= (p.Gln189=) | |
| 1 | g.114684280G>T | CA1020422 | AMPD1 | c.454C>A (p.Gln152Lys) c.466C>A (p.Gln156Lys) c.469C>A (p.Gln157Lys) n.131C>A c.553C>A (p.Gln185Lys) n.340C>A c.565C>A (p.Gln189Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114684281A= | CA1148301110 | AMPD1 | c.453T= (p.Phe151=) c.465T= (p.Phe155=) c.468T= (p.Phe156=) n.130T= c.552T= (p.Phe184=) n.339T= c.564T= (p.Phe188=) | |
| 1 | g.114684281A>C | CA341752603 | AMPD1 | c.453T>G (p.Phe151Leu) c.465T>G (p.Phe155Leu) c.468T>G (p.Phe156Leu) n.130T>G c.552T>G (p.Phe184Leu) n.339T>G c.564T>G (p.Phe188Leu) | |
| 1 | g.114684281A>G | CA419883508 | AMPD1 | c.453T>C (p.Phe151=) c.465T>C (p.Phe155=) c.468T>C (p.Phe156=) n.130T>C c.552T>C (p.Phe184=) n.339T>C c.564T>C (p.Phe188=) | |
| 1 | g.114684281A>T | CA1020423 | AMPD1 | c.453T>A (p.Phe151Leu) c.465T>A (p.Phe155Leu) c.468T>A (p.Phe156Leu) n.130T>A c.552T>A (p.Phe184Leu) n.339T>A c.564T>A (p.Phe188Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114684282A= | CA1149055904 | AMPD1 | c.452T= (p.Phe151=) c.464T= (p.Phe155=) c.467T= (p.Phe156=) n.129T= c.551T= (p.Phe184=) n.338T= c.563T= (p.Phe188=) | |
| 1 | g.114684282A>C | CA341752605 | AMPD1 | c.452T>G (p.Phe151Cys) c.464T>G (p.Phe155Cys) c.467T>G (p.Phe156Cys) n.129T>G c.551T>G (p.Phe184Cys) n.338T>G c.563T>G (p.Phe188Cys) | COSMIC COSMIC |
| 1 | g.114684282A>G | CA29060012 | AMPD1 | c.452T>C (p.Phe151Ser) c.464T>C (p.Phe155Ser) c.467T>C (p.Phe156Ser) n.129T>C c.551T>C (p.Phe184Ser) n.338T>C c.563T>C (p.Phe188Ser) | dbSNP |
| 1 | g.114684282A>T | CA341752608 | AMPD1 | c.452T>A (p.Phe151Tyr) c.464T>A (p.Phe155Tyr) c.467T>A (p.Phe156Tyr) n.129T>A c.551T>A (p.Phe184Tyr) n.338T>A c.563T>A (p.Phe188Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.114684283A>C | CA341752610 | AMPD1 | c.451T>G (p.Phe151Val) c.463T>G (p.Phe155Val) c.466T>G (p.Phe156Val) n.128T>G c.550T>G (p.Phe184Val) n.337T>G c.562T>G (p.Phe188Val) | |
| 1 | g.114684283A>G | CA341752613 | AMPD1 | c.451T>C (p.Phe151Leu) c.463T>C (p.Phe155Leu) c.466T>C (p.Phe156Leu) n.128T>C c.550T>C (p.Phe184Leu) n.337T>C c.562T>C (p.Phe188Leu) | |
| 1 | g.114684283A>T | CA341752612 | AMPD1 | c.451T>A (p.Phe151Ile) c.463T>A (p.Phe155Ile) c.466T>A (p.Phe156Ile) n.128T>A c.550T>A (p.Phe184Ile) n.337T>A c.562T>A (p.Phe188Ile) | |
| 1 | g.114684284C>A | CA419883509 | AMPD1 | c.450G>T (p.Ser150=) c.462G>T (p.Ser154=) c.465G>T (p.Ser155=) n.127G>T c.549G>T (p.Ser183=) n.336G>T c.561G>T (p.Ser187=) | |
| 1 | g.114684284C= | CA1190281853 | AMPD1 | c.450G= (p.Ser150=) c.462G= (p.Ser154=) c.465G= (p.Ser155=) n.127G= c.549G= (p.Ser183=) n.336G= c.561G= (p.Ser187=) | |
| 1 | g.114684284C>G | CA419883510 | AMPD1 | c.450G>C (p.Ser150=) c.462G>C (p.Ser154=) c.465G>C (p.Ser155=) n.127G>C c.549G>C (p.Ser183=) n.336G>C c.561G>C (p.Ser187=) | |
| 1 | g.114684284C>T | CA1020424 | AMPD1 | c.450G>A (p.Ser150=) c.462G>A (p.Ser154=) c.465G>A (p.Ser155=) n.127G>A c.549G>A (p.Ser183=) n.336G>A c.561G>A (p.Ser187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114684285G>A | CA341752617 | AMPD1 | c.449C>T (p.Ser150Leu) c.461C>T (p.Ser154Leu) c.464C>T (p.Ser155Leu) n.126C>T c.548C>T (p.Ser183Leu) n.335C>T c.560C>T (p.Ser187Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.114684285G>C | CA341752618 | AMPD1 | c.449C>G (p.Ser150Trp) c.461C>G (p.Ser154Trp) c.464C>G (p.Ser155Trp) n.126C>G c.548C>G (p.Ser183Trp) n.335C>G c.560C>G (p.Ser187Trp) | |
| 1 | g.114684285G= | CA1190281857 | AMPD1 | c.449C= (p.Ser150=) c.461C= (p.Ser154=) c.464C= (p.Ser155=) n.126C= c.548C= (p.Ser183=) n.335C= c.560C= (p.Ser187=) | |
| 1 | g.114684285G>T | CA341752619 | AMPD1 | c.449C>A (p.Ser150Ter) c.461C>A (p.Ser154Ter) c.464C>A (p.Ser155Ter) n.126C>A c.548C>A (p.Ser183Ter) n.335C>A c.560C>A (p.Ser187Ter) | gnomAD v4 |
| 1 | g.114684286A= | CA1190281860 | AMPD1 | c.448T= (p.Ser150=) c.460T= (p.Ser154=) c.463T= (p.Ser155=) n.125T= c.547T= (p.Ser183=) n.334T= c.559T= (p.Ser187=) | |
| 1 | g.114684286A>C | CA341752622 | AMPD1 | c.448T>G (p.Ser150Ala) c.460T>G (p.Ser154Ala) c.463T>G (p.Ser155Ala) n.125T>G c.547T>G (p.Ser183Ala) n.334T>G c.559T>G (p.Ser187Ala) | |
| 1 | g.114684286A>G | CA1020425 | AMPD1 | c.448T>C (p.Ser150Pro) c.460T>C (p.Ser154Pro) c.463T>C (p.Ser155Pro) n.125T>C c.547T>C (p.Ser183Pro) n.334T>C c.559T>C (p.Ser187Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114684286A>T | CA341752623 | AMPD1 | c.448T>A (p.Ser150Thr) c.460T>A (p.Ser154Thr) c.463T>A (p.Ser155Thr) n.125T>A c.547T>A (p.Ser183Thr) n.334T>A c.559T>A (p.Ser187Thr) | |
| 1 | g.114684287C>A | CA341752625 | AMPD1 | c.447G>T (p.Lys149Asn) c.459G>T (p.Lys153Asn) c.462G>T (p.Lys154Asn) n.124G>T c.546G>T (p.Lys182Asn) n.333G>T c.558G>T (p.Lys186Asn) | |
| 1 | g.114684287C>G | CA341752626 | AMPD1 | c.447G>C (p.Lys149Asn) c.459G>C (p.Lys153Asn) c.462G>C (p.Lys154Asn) n.124G>C c.546G>C (p.Lys182Asn) n.333G>C c.558G>C (p.Lys186Asn) | COSMIC COSMIC |
| 1 | g.114684287C>T | CA419883511 | AMPD1 | c.447G>A (p.Lys149=) c.459G>A (p.Lys153=) c.462G>A (p.Lys154=) n.124G>A c.546G>A (p.Lys182=) n.333G>A c.558G>A (p.Lys186=) | |
| 1 | g.114684288T>A | CA341752628 | AMPD1 | c.446A>T (p.Lys149Met) c.458A>T (p.Lys153Met) c.461A>T (p.Lys154Met) n.123A>T c.545A>T (p.Lys182Met) n.332A>T c.557A>T (p.Lys186Met) | gnomAD v4 |
| 1 | g.114684288T>C | CA341752629 | AMPD1 | c.446A>G (p.Lys149Arg) c.458A>G (p.Lys153Arg) c.461A>G (p.Lys154Arg) n.123A>G c.545A>G (p.Lys182Arg) n.332A>G c.557A>G (p.Lys186Arg) | |
| 1 | g.114684288T>G | CA341752631 | AMPD1 | c.446A>C (p.Lys149Thr) c.458A>C (p.Lys153Thr) c.461A>C (p.Lys154Thr) n.123A>C c.545A>C (p.Lys182Thr) n.332A>C c.557A>C (p.Lys186Thr) | |
| 1 | g.114684289T>A | CA341752636 | AMPD1 | c.445A>T (p.Lys149Ter) c.457A>T (p.Lys153Ter) c.460A>T (p.Lys154Ter) n.122A>T c.544A>T (p.Lys182Ter) n.331A>T c.556A>T (p.Lys186Ter) | |
| 1 | g.114684289T>C | CA341752633 | AMPD1 | c.445A>G (p.Lys149Glu) c.457A>G (p.Lys153Glu) c.460A>G (p.Lys154Glu) n.122A>G c.544A>G (p.Lys182Glu) n.331A>G c.556A>G (p.Lys186Glu) | |
| 1 | g.114684289T>G | CA341752635 | AMPD1 | c.445A>C (p.Lys149Gln) c.457A>C (p.Lys153Gln) c.460A>C (p.Lys154Gln) n.122A>C c.544A>C (p.Lys182Gln) n.331A>C c.556A>C (p.Lys186Gln) | |
| 1 | g.114684290C>A | CA341752637 | AMPD1 | c.444G>T (p.Gln148His) c.456G>T (p.Gln152His) c.459G>T (p.Gln153His) n.121G>T c.543G>T (p.Gln181His) n.330G>T c.555G>T (p.Gln185His) | |
| 1 | g.114684290C= | CA1190281863 | AMPD1 | c.444G= (p.Gln148=) c.456G= (p.Gln152=) c.459G= (p.Gln153=) n.121G= c.543G= (p.Gln181=) n.330G= c.555G= (p.Gln185=) | |
| 1 | g.114684290C>G | CA341752638 | AMPD1 | c.444G>C (p.Gln148His) c.456G>C (p.Gln152His) c.459G>C (p.Gln153His) n.121G>C c.543G>C (p.Gln181His) n.330G>C c.555G>C (p.Gln185His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.114684290C>T | CA419883512 | AMPD1 | c.444G>A (p.Gln148=) c.456G>A (p.Gln152=) c.459G>A (p.Gln153=) n.121G>A c.543G>A (p.Gln181=) n.330G>A c.555G>A (p.Gln185=) | |
| 1 | g.114684291T>A | CA341752639 | AMPD1 | c.443A>T (p.Gln148Leu) c.455A>T (p.Gln152Leu) c.458A>T (p.Gln153Leu) n.120A>T c.542A>T (p.Gln181Leu) n.329A>T c.554A>T (p.Gln185Leu) | |
| 1 | g.114684291T>C | CA341752640 | AMPD1 | c.443A>G (p.Gln148Arg) c.455A>G (p.Gln152Arg) c.458A>G (p.Gln153Arg) n.120A>G c.542A>G (p.Gln181Arg) n.329A>G c.554A>G (p.Gln185Arg) | |
| 1 | g.114684291T>G | CA341752641 | AMPD1 | c.443A>C (p.Gln148Pro) c.455A>C (p.Gln152Pro) c.458A>C (p.Gln153Pro) n.120A>C c.542A>C (p.Gln181Pro) n.329A>C c.554A>C (p.Gln185Pro) |